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_1400 | This variant lies on Chromosome 1 and affects the gene SLC6A17 (solute carrier family 6 member 17). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | GTAAGGGCCTAGATAGGGGTATGAGATGAGGTATGATTTTGGCCCCAAGTTTGGGGTTGTGCAGGGTAAGAGGATTCAGCTCTAAGAAAGGATTGGGTCTCACAGCCTAGGCCTAGGGCAGTTGTACACTTACTGTAAACTCTTGGCCTCATCCCTCATGTTAGGGCAAATACGTGTTCCCAGGAGTTCTAGAACTAGGTCTCTCTGACTCACTCAGCATCGACCATGACCACATTGTCCTTGTCCTTGGCAAGACCCACCTCCACTAACCCACTTGGTCTGACCCTCCCTGATGCCTGGACCTGGTTTGGCAGTGGGGC... | GTAAGGGCCTAGATAGGGGTATGAGATGAGGTATGATTTTGGCCCCAAGTTTGGGGTTGTGCAGGGTAAGAGGATTCAGCTCTAAGAAAGGATTGGGTCTCACAGCCTAGGCCTAGGGCAGTTGTACACTTACTGTAAACTCTTGGCCTCATCCCTCATGTTAGGGCAAATACGTGTTCCCAGGAGTTCTAGAACTAGGTCTCTCTGACTCACTCAGCATCGACCATGACCACATTGTCCTTGTCCTTGGCAAGACCCACCTCCACTAACCCACTTGGTCTGACCCTCCCTGATGCCTGGACCTGGTTTGGCAGTGGGGC... |
Task1_train_1401 | The following genetic variant occurs in KCNA2 (potassium voltage-gated channel subfamily A member 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Developmental and epileptic encephalopathy, 32 | CAGGACAGCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT... | CAGGACAGCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT... |
Task1_train_1402 | Here’s a variant in KCNA2 (potassium voltage-gated channel subfamily A member 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy, 32 | GCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATA... | GCTGGAACTGTGAGGGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATA... |
Task1_train_1403 | A change on Chromosome 1 affects gene KCNA2 (potassium voltage-gated channel subfamily A member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATG... | GGCCACAGGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATG... |
Task1_train_1404 | Located on Chromosome 1, this mutation impacts KCNA2 (potassium voltage-gated channel subfamily A member 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not provided | GGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATGTATATAT... | GGGCCCTTGTGCACTCAGTAAGACAAGCTTCAGCCATGGGAACTGAAGCTGCAGCACATGGAGGGCAGAAAGACAATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATGTATATAT... |
Task1_train_1405 | Chromosome 1 houses a mutation in gene KCNA2 (potassium voltage-gated channel subfamily A member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 32 | ATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAAT... | ATTCTAACGTCTAGGAATCCATGGATACCGGAGTGTCTGAGGCAATGGCAGCAAACCCAGGCCCAGTGGGGTTACCAATGAGACAAATTAACCCATTAGGCCTCTTAGACAGCCAACCCACCAAGCAGTGGATTTGCTCCTGAACCTGAACTCCAGAAAATGAATATATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATACATATACACACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAAT... |
Task1_train_1406 | Here is a genetic alteration in KCNA2 (potassium voltage-gated channel subfamily A member 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Developmental and epileptic encephalopathy, 32 | TATACACACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTT... | TATACACACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTT... |
Task1_train_1407 | A variant affecting Chromosome 1, within the gene KCNA2 (potassium voltage-gated channel subfamily A member 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | CACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAG... | CACATATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAG... |
Task1_train_1408 | Gene KCNA2 (potassium voltage-gated channel subfamily A member 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Developmental and epileptic encephalopathy, 32 | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... |
Task1_train_1409 | Gene KCNA2 (potassium voltage-gated channel subfamily A member 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Neurodevelopmental disorder | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... |
Task1_train_1410 | This alteration occurs within gene KCNA2 (potassium voltage-gated channel subfamily A member 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... | TATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCT... |
Task1_train_1411 | Given this variant in gene KCNA2 (potassium voltage-gated channel subfamily A member 2) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Developmental and epileptic encephalopathy, 32 | ATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTG... | ATGTATGTATATATATACACCCTAGTGCACATAGTCAAACACATGCATAAATTGCCCTTTGTCAAAAATATTGCATAAGCTTGTACAATGTTCAAATGCAATTTCTTTTCTATCACTAGCTAGGTAGAGGAACGCGTGAAAGAGAGATACTCGATATATATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTG... |
Task1_train_1412 | Chromosome 1 houses a mutation in gene KCNA2 (potassium voltage-gated channel subfamily A member 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy, 32 | ATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTGCGTTCCTGTTTAGAAGAACAGGGATAGGTAGGCTGGGGGGCCAGAAGTTTTAGTTCCATTCCAAATAGTCTATTTTTTTTCCCCTGATGGAGGGATTTTTGCCTTCTGATGGGAAAAAAACCCCTAGTTCAAGACCATTCCAAGCCTATTAATACTCTA... | ATTTATATACACTGGATCCACAGACCTGCCTGTCATCAGGACCAGATGCCCTGGTCCACTGTACAGTCATGCCCGCGACTAGGTTAATTCCTAAGGTGCAGTCATGTGAGGTGTTCAGATGCTGCCTTCCCCGCTTACTCTTCTGGCTTTGCAGAGGTCTGCGTTCCTGTTTAGAAGAACAGGGATAGGTAGGCTGGGGGGCCAGAAGTTTTAGTTCCATTCCAAATAGTCTATTTTTTTTCCCCTGATGGAGGGATTTTTGCCTTCTGATGGGAAAAAAACCCCTAGTTCAAGACCATTCCAAGCCTATTAATACTCTA... |
Task1_train_1413 | A variant has been detected on Chromosome 1 in DRAM2 (DNA damage regulated autophagy modulator 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Retinal dystrophy | TACTTCTTTAAACACAGAAACAATTCACCTGAAAAGTTACATCACTTGTTTATGATACCAAATCACAAACAGTTAATTTTCAAAAAGGCGGGAGAGTTGCCTATGGAAAGTTCTCTTAGTCTACCTTCCTGGACTAAGAGAAGGAAGTCTGACTGAATAAATCTAATATTGTGCCTTCTTACCTGAAAATCACGAATGTAAGTCAGGAAAAAACCAAAGAAGGAAAATGACATAGACCATTCTGCTGCAGTAGTGATCATGTGAAGCACATAACCCTGAGTGATGGGAAAAAAAGAATAGTTTTGTGAAATTTCATTTAA... | TACTTCTTTAAACACAGAAACAATTCACCTGAAAAGTTACATCACTTGTTTATGATACCAAATCACAAACAGTTAATTTTCAAAAAGGCGGGAGAGTTGCCTATGGAAAGTTCTCTTAGTCTACCTTCCTGGACTAAGAGAAGGAAGTCTGACTGAATAAATCTAATATTGTGCCTTCTTACCTGAAAATCACGAATGTAAGTCAGGAAAAAACCAAAGAAGGAAAATGACATAGACCATTCTGCTGCAGTAGTGATCATGTGAAGCACATAACCCTGAGTGATGGGAAAAAAAGAATAGTTTTGTGAAATTTCATTTAA... |
Task1_train_1414 | Assess the clinical impact of this variant on gene DRAM2 (DNA damage regulated autophagy modulator 2), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Retinal dystrophy | CAGGTGAAATCATCTAGATTAAAACACTAGTAGTTGCTTAATCATATTTAATAATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTA... | CAGGTGAAATCATCTAGATTAAAACACTAGTAGTTGCTTAATCATATTTAATAATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTA... |
Task1_train_1415 | A variant was discovered on Chromosome 1, affecting DRAM2 (DNA damage regulated autophagy modulator 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinal dystrophy | AATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTATGTAATGAAACCTTCATTATAGTACTGTTTGTAACAGCCAAAAAAAAGGGAA... | AATAACGTTTTAATAATTATGTTTCCTTCATCTCCCTGCCCTATGTAATTTATTTAACTTTTATAGAGAAGTTTAAGTCTCAATAGCTCAGAAACCATTCATATAATTATGATTTCCTCATATCCTTTTTGTGAATGCATAAACTGATGCAACAATTCTAAAGATACATTTGGAAATGTCAAATGAAAAATGTAGATGCCCTATTACCTATCTAGCAATCTCACTTCTAGAAATCTACCTCATATCAACATCAGTATGTAAAGTTGTATGTAATGAAACCTTCATTATAGTACTGTTTGTAACAGCCAAAAAAAAGGGAA... |
Task1_train_1416 | This genomic variant is located on Chromosome 1, within the KCND3 (potassium voltage-gated channel subfamily D member 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; not provided | TGACTCCATCCTGGGCAACATAGTGAGACCCCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCA... | TGACTCCATCCTGGGCAACATAGTGAGACCCCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCA... |
Task1_train_1417 | The gene KCND3 (potassium voltage-gated channel subfamily D member 3) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Spinocerebellar ataxia type 19/22 | TGAGACCCCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCAAATTTGCTGCCTGACTTGAACAG... | TGAGACCCCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCAAATTTGCTGCCTGACTTGAACAG... |
Task1_train_1418 | The following genetic variant occurs in KCND3 (potassium voltage-gated channel subfamily D member 3) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spinocerebellar ataxia type 19/22 | CCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCAAATTTGCTGCCTGACTTGAACAGGGAAAGA... | CCATCTCTAAAATAATAATAATAATAAATCAATTCCCAGGTGAAGTAAAGGTAGCTGTAGGAGCCACTGAGAACACAGCTGGAATGGGCTGTCACTGGTGTGTGCACAGCCGTGGGCTAGTGTGTGAGCTGAGGATTCCTGTGAACCTCACCTGCTCTGCCAGAAGCCTGTGTCAGCTCTAGCCCCTTGGGGGCAGGGCCACTAGAGGATCCCTGGCCCTTCAGGGTCTCTGGTTCCTGAATGTGGGAAGGAGATCCCAGTTTCTGTATAACAAATTTAGGCCCTATTCAAATTTGCTGCCTGACTTGAACAGGGAAAGA... |
Task1_train_1419 | A genetic alteration is present in KCND3 (potassium voltage-gated channel subfamily D member 3) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | AAATTAGTTCTGCTCCTTATCAGCTACGTGACTATGGAAGTTTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAG... | AAATTAGTTCTGCTCCTTATCAGCTACGTGACTATGGAAGTTTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAG... |
Task1_train_1420 | Gene KCND3 (potassium voltage-gated channel subfamily D member 3), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spinocerebellar ataxia type 19/22 | CAGCTACGTGACTATGGAAGTTTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGAC... | CAGCTACGTGACTATGGAAGTTTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGAC... |
Task1_train_1421 | The following genetic variant occurs in KCND3 (potassium voltage-gated channel subfamily D member 3) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Spinocerebellar ataxia type 19/22 | TTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGACTAGAAGTGGAAGTGAGGTGTC... | TTATATAGTCTCTCTGAGCCTCAGCTTCTGCATCTTTATAGGGTACAGAATTTTTTCCAACCTTGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGACTAGAAGTGGAAGTGAGGTGTC... |
Task1_train_1422 | Chromosome 1 houses a mutation in gene KCND3 (potassium voltage-gated channel subfamily D member 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Spinocerebellar ataxia type 19/22 | TGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGACTAGAAGTGGAAGTGAGGTGTCTGGCCATGGGTGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGAT... | TGCAGGGCTGTTGTAAAAACTTAAAGAGATAATATATGCAAAGTTCTTAGTACACTGCTGACATATAGTAGACAATCATATGCTGTTATACTACTAATAAAAAGTAATGAGTAGGTGGCTATCACCATGCCTGTTTTCCTCCACATGGCTATCCTGAAGGATCTCTCTGATGTCATGAGTCCCATCAAGGGGCATCTGAGGGCACTGGGCAGTCAGAGCCACATCAGGAGCTTGACTAGAAGTGGAAGTGAGGTGTCTGGCCATGGGTGAGGTCCCCTTCAGGAAGGTGAAGGGATGGCTAGGGTCAGCCTAAAAGGGAT... |
Task1_train_1423 | With a mutation on Chromosome 1 in gene SLC16A1 (solute carrier family 16 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Monocarboxylate transporter 1 deficiency, autosomal dominant | AGAGAGCAGGAGGCCAGTGGTAGAAATGAGGCTGGAAGGACAGCTGGGGCCAGCCCATGCAGTGCCTTGCAAGCCACATTAGGGAATTTGCTTTTCACCCTGAAAGTAATGGGAAGCAACTGGAGAGTTTTAAGAAATCTTGAAGAGTTCTGAACTGGAGACTTCAAGGAGACTGAAGAACAGCTAGAACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAAC... | AGAGAGCAGGAGGCCAGTGGTAGAAATGAGGCTGGAAGGACAGCTGGGGCCAGCCCATGCAGTGCCTTGCAAGCCACATTAGGGAATTTGCTTTTCACCCTGAAAGTAATGGGAAGCAACTGGAGAGTTTTAAGAAATCTTGAAGAGTTCTGAACTGGAGACTTCAAGGAGACTGAAGAACAGCTAGAACTGATACAGGTAGACCAGTTAGGAGGTTACAGTTAGGAGCAGCCCAAACAGGAGACAGGAGCTTTGGATAAGGGTAGTAGTTGTGATGGAGAAAAATGGGCAGATGAGAACAAGATTTAGAGCATAAAAAC... |
Task1_train_1424 | Assess the clinical impact of this variant on gene DCLRE1B (DNA cross-link repair 1B), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Fanconi anemia complementation group C | GATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGC... | GATTTCCAGCGCCGCGTCCGACTGACCGCAGACCCCTCCCTCTCCAGTTCCAGCCTTAATTCCCCCTCCACGCCGTTCTCATCGCGGATAGGCCCAATCTTGCTTTCTGCGGAAGTCCCGCCCCCTTGTCAAGAGACCAAACAGAAGACCGCTGCCGGTCTCCCCGCGAGCGAGCGCTAAGCGTAGTCCCGACTCCGACCTTAGGATGCCCTTCCCCCAACCTCTCACTCTCCAGGCGCAGCTGCGCGGCTCCCTCTGGTGGAGCTGCGGCGGGCAATCGGAAATCGGCTACTTTGGCCTGTCTCCTCCCTGCAGCGCGC... |
Task1_train_1425 | Mutation context: Chromosome 1, Gene DCLRE1B (DNA cross-link repair 1B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Dyskeratosis congenita, autosomal recessive 8 | TGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCAC... | TGTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCAC... |
Task1_train_1426 | Chromosome 1 houses a mutation in gene DCLRE1B (DNA cross-link repair 1B). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Dyskeratosis congenita, autosomal recessive 8 | GTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACG... | GTTTCCCAAACTTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGTCTCGGCCTCCTGAGTAGCTGAGATTACAGGCGCACGCCACCACGCCCAGCTAATTTTTTGTATTTTTTGTGGAGACGGGGTTTCACCATGTTGGCCAGGCTGTTCTCTAACTCCTGACCTTAAGTGATCCGCCCGCCTCAGCCTCCCCAAGTGCTGGGATTACAAGCGTGAGCCACCACG... |
Task1_train_1427 | A genetic alteration is present in NRAS (NRAS proto-oncogene, GTPase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Non-small cell lung carcinoma | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1428 | A variant was discovered on Chromosome 1, affecting NRAS (NRAS proto-oncogene, GTPase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Noonan syndrome 6 | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1429 | This is a variant in NRAS (NRAS proto-oncogene, GTPase), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Large congenital melanocytic nevus | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1430 | With a mutation on Chromosome 1 in gene NRAS (NRAS proto-oncogene, GTPase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Vascular malformation | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1431 | Given a variant located on Chromosome 1 and affecting NRAS (NRAS proto-oncogene, GTPase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neoplasm | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1432 | The variant affects gene NRAS (NRAS proto-oncogene, GTPase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... | CTGTACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTT... |
Task1_train_1433 | Assess the clinical impact of this variant on gene NRAS (NRAS proto-oncogene, GTPase), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; RASopathy | TACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTA... | TACTGTTCAACATGGTACCTACTAGTGGCTATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTA... |
Task1_train_1434 | Given this context: Chromosome 1, gene NRAS (NRAS proto-oncogene, GTPase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; RASopathy | ATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATAC... | ATTGAGCATTTGGTAGTCAAGGAACTAATTTTTAAATTTTATTTAATCTTAATTAACTGTAAATAACCACATACTGCACAGTACTGTTTTAGTCTCTACCCCTGGATTACCCACAAAGTCATGTATCTGAACTACATTCCACTGGCTATTTGCAAAACTGTGCTTGATGGTAATAGCCTACATTAAGGGATAAGACAGCCTAAAGTACCTGGACCATGTCACTGTCAGGTTACTACTGATTTTTACATTAAACAAGCCTCTTTGAGGATCCATGGGAAAATTTCCTTCTAGTCCGAGCAACTTAACGGCTTTCAGCATAC... |
Task1_train_1435 | This gene mutation involves NRAS (NRAS proto-oncogene, GTPase) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Epidermal nevus | AGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGA... | AGGGAAGTTCAATTTTTATTAAAAACCACAGGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGA... |
Task1_train_1436 | Here is a variant affecting NRAS (NRAS proto-oncogene, GTPase) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; RASopathy | GGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTA... | GGGAATGCAATGCTATTGCCAAGGTTAAATAAGCATCTAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTA... |
Task1_train_1437 | This is a variant in NRAS (NRAS proto-oncogene, GTPase), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Neoplasm | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... |
Task1_train_1438 | Here is a variant affecting NRAS (NRAS proto-oncogene, GTPase) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Increased nuchal translucency | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... |
Task1_train_1439 | This variant affects gene NRAS (NRAS proto-oncogene, GTPase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Noonan syndrome 6 | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... |
Task1_train_1440 | A mutation in NRAS (NRAS proto-oncogene, GTPase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; RASopathy | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... |
Task1_train_1441 | Here is a genetic alteration in NRAS (NRAS proto-oncogene, GTPase) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Neoplasm | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... | TAACTATTCAAGCCCATTTCTGCCTATCTGGTTTGTCCCTCAAATTGCTAATATATAATCACAAACAAAAAGTATCCAATATCACCCTACATAAAAGAAAACCCACCAAATTCTATATGCCTGCAGAAAAGAAATATGGTCACTGTGTTCCTGGAAAAGATTAAGAAAACACAGTAACTCAAATGACAACTCTACTGCAGCCAGGAGGCTACAGATTAAGTACCCAGTGTATTTCACTAAGCTATGAACTGGACTGTTTTATTTGTGCTGTTTATTTTACTTAAAGAAATCTAAACATACCTCCACCAATTATAACCTGG... |
Task1_train_1442 | This alteration in TSHB (thyroid stimulating hormone subunit beta) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Isolated thyroid-stimulating hormone deficiency | GATTTATGGAAGAATTCTGTTTCTTAATTTTTAGACCAATATTTTCATCACCAGGTCACCACATTGATTTTATACAGAATTATAGAGCTAAAAGTTAAAATATGTGAAGTTAGTTGTTTCCTATAGAAAAAACTCAGTAGCTGGCTGTCTAAACAAGCAAGAACTATAATGGCCATGATGGGTAAGCATTTTACATAATTTACCAGTTAGTAATTTTAAGATCCTACAGAGGATCATCAAGTTCTGTATCTCTAAAATACTGGAAGCAACTCTGTACCATAGAGGGAGCTCACATTTGAGAAGCGCTTGAGAAAGCCAGA... | GATTTATGGAAGAATTCTGTTTCTTAATTTTTAGACCAATATTTTCATCACCAGGTCACCACATTGATTTTATACAGAATTATAGAGCTAAAAGTTAAAATATGTGAAGTTAGTTGTTTCCTATAGAAAAAACTCAGTAGCTGGCTGTCTAAACAAGCAAGAACTATAATGGCCATGATGGGTAAGCATTTTACATAATTTACCAGTTAGTAATTTTAAGATCCTACAGAGGATCATCAAGTTCTGTATCTCTAAAATACTGGAAGCAACTCTGTACCATAGAGGGAGCTCACATTTGAGAAGCGCTTGAGAAAGCCAGA... |
Task1_train_1443 | A variant was discovered on Chromosome 1, affecting NGF, NGF-AS1 (nerve growth factor| NGF antisense RNA 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not specified | AGTGCCGCGGGCAGCACTCCAGGACCCTCTTTGTTGGTGTAGCTGCTCACAAGCCAACCTTCCTGATGGGGAGCTTCCTGAAGGCCTCCCTCTCCACTCCTCTCCCCACATCCCAGGCCCAAAGTCCAGTCCTAAGAGAAAAAAAGCCACCCAGAAACTTTGTAGGGGCACCTAGGACGGCTGAGACCACTGGCATTGGACCCCAGTAAAAGTCACAGACACAGATCACTGGGAGGGCTCCTCCCTGAGGCCTTTATCTCACTTAGAATCTCAGCACAGAATGTTCTAGCTGGTGTTTCTTGAGCATAAACCTTTATTCC... | AGTGCCGCGGGCAGCACTCCAGGACCCTCTTTGTTGGTGTAGCTGCTCACAAGCCAACCTTCCTGATGGGGAGCTTCCTGAAGGCCTCCCTCTCCACTCCTCTCCCCACATCCCAGGCCCAAAGTCCAGTCCTAAGAGAAAAAAAGCCACCCAGAAACTTTGTAGGGGCACCTAGGACGGCTGAGACCACTGGCATTGGACCCCAGTAAAAGTCACAGACACAGATCACTGGGAGGGCTCCTCCCTGAGGCCTTTATCTCACTTAGAATCTCAGCACAGAATGTTCTAGCTGGTGTTTCTTGAGCATAAACCTTTATTCC... |
Task1_train_1444 | This sequence change occurs on Chromosome 1, altering CASQ2 (calsequestrin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 2 | ATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCA... | ATAAGCATTAAATAAAAGATGACACAGCATAAATTATGGAAACATGTGTCTGCAGCTGTAAGAGAGAAAATTATAGAGGTGGTCTAATGTTGCTTTCCAAATTACTTGTGGCTGTTTTATAGTTTATAGAGCCATTTCCCTCCACCTCTTTTTAATGTCCCAGTTTTAAAAATACCTTATCTTGTGCTACATGAGATAGCTGGGAAAGCCATGATGGGTCATAAGTTGCCAAGTAAGAAGAAGGCTTCTTCATTCAACCAGGCTTGGACTCCATGTGGACAAATCTCTGACTGGGGCAAAAATAAAGGAGCAAGGGGCCA... |
Task1_train_1445 | This is a variant in CASQ2 (calsequestrin 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 2 | CCATTTGTCACTATCCACATATACAAGTGAAGTCTCTTGTCCAAGGTGACCATCAAGAATTTGAAGAGATCATCATTTAAAATCTTGATAAGGAATTTCATGTTGCTATTTTAAGCATAAAACCTAATATCAAAAAGCTATATCCTGGGTTGGGCACAGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACTAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAC... | CCATTTGTCACTATCCACATATACAAGTGAAGTCTCTTGTCCAAGGTGACCATCAAGAATTTGAAGAGATCATCATTTAAAATCTTGATAAGGAATTTCATGTTGCTATTTTAAGCATAAAACCTAATATCAAAAAGCTATATCCTGGGTTGGGCACAGTGGCTCATGCCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAACACTAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAATCCCAGCTAC... |
Task1_train_1446 | This is a variant in ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | TTTCATTTCAGCACAGTGAAATTATAATCTGGACACGAGTTCCTAATTATTGCTTTAGTAGCTGGTAATGCACTTAGGAAAGTTAGAAATGAGTAAAGGAGAACCACAAAATAATAGTAATAGCACCATATGTCATGCATTTTAAGAAAATTGCTAATGTCTACTTTTTGGCCTTAAGTTGTAGTTGTGGGAGGCTGCTTCAGGGGGAGGTGTCTGGAACAAGGGGCTCTTCTGCTCCGCTAAGCTTTGGAGCACCAAGTTCAGGCTTTGTGTAGATAAGCTCAAGGATTTTTCAACAGGGGTGGGGGAGTGGAACAATC... | TTTCATTTCAGCACAGTGAAATTATAATCTGGACACGAGTTCCTAATTATTGCTTTAGTAGCTGGTAATGCACTTAGGAAAGTTAGAAATGAGTAAAGGAGAACCACAAAATAATAGTAATAGCACCATATGTCATGCATTTTAAGAAAATTGCTAATGTCTACTTTTTGGCCTTAAGTTGTAGTTGTGGGAGGCTGCTTCAGGGGGAGGTGTCTGGAACAAGGGGCTCTTCTGCTCCGCTAAGCTTTGGAGCACCAAGTTCAGGCTTTGTGTAGATAAGCTCAAGGATTTTTCAACAGGGGTGGGGGAGTGGAACAATC... |
Task1_train_1447 | This variant affects gene ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Aldosterone-producing adrenal cortex adenoma | TTATGTAGAGGATTTTGATATTAAATGTGTAACAAATGTTATAAAAGTAAATAGTCTAGGGATGTCTTATTTCCAGATAATCACTGAAATGTCTGGGAATAACTTGAATAGCAAGCCAATATGTAGCATTTTTTCAGTAAGGCATCAAGAGACATGGGTACTGTGGTATTCTGATATATATTGGTTTTTGTCCACAGTTCCTGGTTCATAACTCCCATAGCCCTTATTACAGTCGTTTGTTATAATGTTGGGTGTGTTAGACCTCAGTGGCAGGCTTCAAGAAACAGGATCTCTCTCCTGCCCTCCTTTTCACCTGTCGC... | TTATGTAGAGGATTTTGATATTAAATGTGTAACAAATGTTATAAAAGTAAATAGTCTAGGGATGTCTTATTTCCAGATAATCACTGAAATGTCTGGGAATAACTTGAATAGCAAGCCAATATGTAGCATTTTTTCAGTAAGGCATCAAGAGACATGGGTACTGTGGTATTCTGATATATATTGGTTTTTGTCCACAGTTCCTGGTTCATAACTCCCATAGCCCTTATTACAGTCGTTTGTTATAATGTTGGGTGTGTTAGACCTCAGTGGCAGGCTTCAAGAAACAGGATCTCTCTCCTGCCCTCCTTTTCACCTGTCGC... |
Task1_train_1448 | Here is a genetic alteration in ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 2 | TCTCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAA... | TCTCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAA... |
Task1_train_1449 | A mutation in ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 2 | TCTCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAA... | TCTCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAA... |
Task1_train_1450 | This variant affects the gene ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 2 | TCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAAAA... | TCCGTCTTTGTCTCCCACTTCTTCTCAATTACCACTCATTACTTAATGGTTATGAACTCATTACTTAATGGTTATGAACAGCTGTTGCCTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAAAA... |
Task1_train_1451 | Here is a variant affecting ATP1A1 (ATPase Na+/K+ transporting subunit alpha 1) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Aldosterone-producing adrenal cortex adenoma | CTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAAAAACAATCTTTGTTTTATAAAGCAGGAGAAACTGATGCATCTAGAACCTTTCCAAACGTCCAGTTAGTGATCAAGTGTTGGTGTGCCTGA... | CTTCAAGGCTCATCCATTCTTCCTTCGTTTCCATTTCCTCTCTCTACCACCCACGTTGTAGATGCTCTTACAAGTGGGATGCCCACCTGCATGTGCTGCTGTGAGCAGGCAGCTCTGCTCAGGCCCCGGCCGCCACCCACTGGATGGCAGAGCACAGCGATTCATGTTGGCACATCCACCTGTCCAGAAATGCTTGGTGGCCATTCTTCAAAATCCACAAGTTGGTTGAAAAACAATCTTTGTTTTATAAAGCAGGAGAAACTGATGCATCTAGAACCTTTCCAAACGTCCAGTTAGTGATCAAGTGTTGGTGTGCCTGA... |
Task1_train_1452 | This sequence variant lies in ATP1A1-AS1, ATP1A1 (ATP1A1 antisense RNA 1| ATPase Na+/K+ transporting subunit alpha 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Charcot-Marie-tooth disease, axonal, type 2DD | AAAACACTGTTGAGCCCTTTTGAATACTTGTGGTTTGGGGTGGGTGTGGGCATGTGGGGAGGTGGCTGGAGGTATGTGTACACAAGTGTTCCCCAATCCCTGTGTTCTGAAATTTCGTATGTTCTTTTTTAATGTGAACAAATGTCAGGAATTTATGAATATATCATAGTGCTCATTTTTTTTTTTTTCTGTAGCATTCAAAGTATGTTACAGGTGTAAGATACTTCAGAGTTCAGAAAGAAGGGATCTTGGGTCTTTTATAGCAAATACTAAATAGTAAGTGAAGCTTTGTTTTCCACCATGGACTGCCACACATCCAA... | AAAACACTGTTGAGCCCTTTTGAATACTTGTGGTTTGGGGTGGGTGTGGGCATGTGGGGAGGTGGCTGGAGGTATGTGTACACAAGTGTTCCCCAATCCCTGTGTTCTGAAATTTCGTATGTTCTTTTTTAATGTGAACAAATGTCAGGAATTTATGAATATATCATAGTGCTCATTTTTTTTTTTTTCTGTAGCATTCAAAGTATGTTACAGGTGTAAGATACTTCAGAGTTCAGAAAGAAGGGATCTTGGGTCTTTTATAGCAAATACTAAATAGTAAGTGAAGCTTTGTTTTCCACCATGGACTGCCACACATCCAA... |
Task1_train_1453 | A mutation on Chromosome 1 affecting ATP1A1-AS1, ATP1A1 (ATP1A1 antisense RNA 1| ATPase Na+/K+ transporting subunit alpha 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Charcot-Marie-tooth disease, axonal, type 2DD | ATACTTGTGGTTTGGGGTGGGTGTGGGCATGTGGGGAGGTGGCTGGAGGTATGTGTACACAAGTGTTCCCCAATCCCTGTGTTCTGAAATTTCGTATGTTCTTTTTTAATGTGAACAAATGTCAGGAATTTATGAATATATCATAGTGCTCATTTTTTTTTTTTTCTGTAGCATTCAAAGTATGTTACAGGTGTAAGATACTTCAGAGTTCAGAAAGAAGGGATCTTGGGTCTTTTATAGCAAATACTAAATAGTAAGTGAAGCTTTGTTTTCCACCATGGACTGCCACACATCCAACCATCCAATGTTTATGTCTCAAC... | ATACTTGTGGTTTGGGGTGGGTGTGGGCATGTGGGGAGGTGGCTGGAGGTATGTGTACACAAGTGTTCCCCAATCCCTGTGTTCTGAAATTTCGTATGTTCTTTTTTAATGTGAACAAATGTCAGGAATTTATGAATATATCATAGTGCTCATTTTTTTTTTTTTCTGTAGCATTCAAAGTATGTTACAGGTGTAAGATACTTCAGAGTTCAGAAAGAAGGGATCTTGGGTCTTTTATAGCAAATACTAAATAGTAAGTGAAGCTTTGTTTTCCACCATGGACTGCCACACATCCAACCATCCAATGTTTATGTCTCAAC... |
Task1_train_1454 | A change on Chromosome 1 affects gene ATP1A1-AS1, ATP1A1 (ATP1A1 antisense RNA 1| ATPase Na+/K+ transporting subunit alpha 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 2 | AGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTC... | AGATCTTATTCAGATACTGCCCATTAGCATCCATTTCTGTATACTTCTTGGATATGTTCAGTTTCCAGTGTGCTTGTCTCATAAGCTAACAGTAAAAAATCTTGGTTTTCATAGGTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTAACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTACCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATGGTGAGTGTCACAACAGTCACAGATCGATAGTAGTGAGGTGTGAGCTGTGTC... |
Task1_train_1455 | This genomic variant is located on Chromosome 1, within the ATP1A1, ATP1A1-AS1 (ATPase Na+/K+ transporting subunit alpha 1| ATP1A1 antisense RNA 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Hypomagnesemia, seizures, and intellectual disability 2 | GCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGA... | GCTCCCAGCATCCATGAGGCTGGCGTTGGGAAAAGAAATTCTCAGGACCAGTATCCAGTGTGTGTCCCAATCCCGGCTTCACAGAATCAGTATTACCACTCTTCAAGGCAGCAGTTAACATTTGTTTATCAGATGGGAATCTTTATTTTTGTATACTTCACCTAAAAGATTTTTAAATGGGAGGGCAAGAATTTTATAACAAAAGGTTCACAATATTAGCTTCCTTATTTTTAGTAACTAAATTCCTTCTCCCCACCCCTTCCCAGGTTCCTGCCATCTCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGA... |
Task1_train_1456 | This sequence change occurs on Chromosome 1, altering SPAG17 (sperm associated antigen 17). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Spermatogenic failure 55 | TGGAGGCAACCGTAACCGTGCTACTCAACTATAAGCTATACTACAGGACTACAGTAACCAAAATGGCATGGTACTTGTACCAAAACAGCAAAACAGACACATAGACCAATGGAACAGAATAGAGAGCCCAGAAATAAAGCCACACACCTACAGTCATCTGATCTTAAACAAATCAACAAAAACAAGCAATGATGAAAGGACTCCCTATTCAATAAATGGTACTGAGATAAATGGCTGGCCATATGCAGAAGATTGAAACTGCACCCCTTCCTTACACCATATAGAATAATTATCTAAAGATGAATTAAAGAATAAAATGT... | TGGAGGCAACCGTAACCGTGCTACTCAACTATAAGCTATACTACAGGACTACAGTAACCAAAATGGCATGGTACTTGTACCAAAACAGCAAAACAGACACATAGACCAATGGAACAGAATAGAGAGCCCAGAAATAAAGCCACACACCTACAGTCATCTGATCTTAAACAAATCAACAAAAACAAGCAATGATGAAAGGACTCCCTATTCAATAAATGGTACTGAGATAAATGGCTGGCCATATGCAGAAGATTGAAACTGCACCCCTTCCTTACACCATATAGAATAATTATCTAAAGATGAATTAAAGAATAAAATGT... |
Task1_train_1457 | This genomic variant is located on Chromosome 1, within the WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | AGGGGTAAGGGTTTTACTCTCAGATTTGCTTCTCTTATGGAGTGATATCGTACAAGCTAATTGGATTCTCTCAGCCTCACTTTCCTCATGTGTAAAATGACAATAATTCTCCTAATTCATAGGGGGTTGGTGAGACTAAACTGAAATGAATGCAAGAAAGCACTTATTAAGAATATAATTCAGGGACTTGGGCTCTTGTACAATAAATAAATCAGGTCAAAATAATGCAACCTCCTTAGAAGATCATATCCCATATCTCTGAATTAAAAAACAAATTATTGCTGGAACAGTTGGTGTTATCTCTTGGAAAACAAGTTAAG... | AGGGGTAAGGGTTTTACTCTCAGATTTGCTTCTCTTATGGAGTGATATCGTACAAGCTAATTGGATTCTCTCAGCCTCACTTTCCTCATGTGTAAAATGACAATAATTCTCCTAATTCATAGGGGGTTGGTGAGACTAAACTGAAATGAATGCAAGAAAGCACTTATTAAGAATATAATTCAGGGACTTGGGCTCTTGTACAATAAATAAATCAGGTCAAAATAATGCAACCTCCTTAGAAGATCATATCCCATATCTCTGAATTAAAAAACAAATTATTGCTGGAACAGTTGGTGTTATCTCTTGGAAAACAAGTTAAG... |
Task1_train_1458 | This gene mutation involves WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | TGTAAAATGACAATAATTCTCCTAATTCATAGGGGGTTGGTGAGACTAAACTGAAATGAATGCAAGAAAGCACTTATTAAGAATATAATTCAGGGACTTGGGCTCTTGTACAATAAATAAATCAGGTCAAAATAATGCAACCTCCTTAGAAGATCATATCCCATATCTCTGAATTAAAAAACAAATTATTGCTGGAACAGTTGGTGTTATCTCTTGGAAAACAAGTTAAGCAGCTTAAATATATTAAATCAGGCACCGTCTCAGTGACAAACAAACTATAAGAATGGACTTGTTTTTATGAGCTCTGAATACAAATTGGC... | TGTAAAATGACAATAATTCTCCTAATTCATAGGGGGTTGGTGAGACTAAACTGAAATGAATGCAAGAAAGCACTTATTAAGAATATAATTCAGGGACTTGGGCTCTTGTACAATAAATAAATCAGGTCAAAATAATGCAACCTCCTTAGAAGATCATATCCCATATCTCTGAATTAAAAAACAAATTATTGCTGGAACAGTTGGTGTTATCTCTTGGAAAACAAGTTAAGCAGCTTAAATATATTAAATCAGGCACCGTCTCAGTGACAAACAAACTATAAGAATGGACTTGTTTTTATGAGCTCTGAATACAAATTGGC... |
Task1_train_1459 | A variant was discovered on Chromosome 1, affecting WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | AAAGTCATGTGTAAGCAAAGCCTTCCTGACCAACTATAAGGAATGAAGTTGAGGTAAATTGACTTTATGGTCCTTTTAAAGATCAGATTCTATTATTTTATCAAATTATCTACAAGCTGGCAACAAAGTTGATAACTGCATTTATTTTTTAAACATACAGTTGGCCCTCTGAATTTGTGTGTTCTGCATCCATGGACTCAACCAAACAGCAGATTGAAAATATTAGGAAAAAACAACTAATAAAAATAACACCGCCACTATATATACACTATGGAATACTACACAGTCATAACAAGGAATGAAATCATGTCTTTTGCAGC... | AAAGTCATGTGTAAGCAAAGCCTTCCTGACCAACTATAAGGAATGAAGTTGAGGTAAATTGACTTTATGGTCCTTTTAAAGATCAGATTCTATTATTTTATCAAATTATCTACAAGCTGGCAACAAAGTTGATAACTGCATTTATTTTTTAAACATACAGTTGGCCCTCTGAATTTGTGTGTTCTGCATCCATGGACTCAACCAAACAGCAGATTGAAAATATTAGGAAAAAACAACTAATAAAAATAACACCGCCACTATATATACACTATGGAATACTACACAGTCATAACAAGGAATGAAATCATGTCTTTTGCAGC... |
Task1_train_1460 | A mutation in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; 3 beta-Hydroxysteroid dehydrogenase deficiency | GGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGGCCTTCTTGGAGTTGCCTGACAGTGGGAAGGGGCTGGGAGTAGACAAAACAAGGCAGAGGCATCAGAAGAGCAAATGGTCCCACCTGTATCCCAGGAAGGAATTTCTCCAGCCTTGAATTTTTCATTCTGAATTTCGCTCTCACTGTTCTTTGGCCTTTGTGGGCATTTTCAGTTAAACTGGCTTATTCTTACTCTTTC... | GGAGAAGCAGATGAAGGGAGTAGAAAAGGTAGAGGTGGAAATACAACCAGAGAAAATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGGCCTTCTTGGAGTTGCCTGACAGTGGGAAGGGGCTGGGAGTAGACAAAACAAGGCAGAGGCATCAGAAGAGCAAATGGTCCCACCTGTATCCCAGGAAGGAATTTCTCCAGCCTTGAATTTTTCATTCTGAATTTCGCTCTCACTGTTCTTTGGCCTTTGTGGGCATTTTCAGTTAAACTGGCTTATTCTTACTCTTTC... |
Task1_train_1461 | This sequence change occurs on Chromosome 1, altering HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | ATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGGCCTTCTTGGAGTTGCCTGACAGTGGGAAGGGGCTGGGAGTAGACAAAACAAGGCAGAGGCATCAGAAGAGCAAATGGTCCCACCTGTATCCCAGGAAGGAATTTCTCCAGCCTTGAATTTTTCATTCTGAATTTCGCTCTCACTGTTCTTTGGCCTTTGTGGGCATTTTCAGTTAAACTGGCTTATTCTTACTCTTTCTCAGAAAAGTTGATTCTAAACAGCTATTCCTGCACCTGGGGTACAGGGTACAAAA... | ATTCCACTCTCGGGCTGACACCCACCTCCTCCCCAGCAGCCTCTTCCCTGCCTCCACCATTCCAGGGCCTTCTTGGAGTTGCCTGACAGTGGGAAGGGGCTGGGAGTAGACAAAACAAGGCAGAGGCATCAGAAGAGCAAATGGTCCCACCTGTATCCCAGGAAGGAATTTCTCCAGCCTTGAATTTTTCATTCTGAATTTCGCTCTCACTGTTCTTTGGCCTTTGTGGGCATTTTCAGTTAAACTGGCTTATTCTTACTCTTTCTCAGAAAAGTTGATTCTAAACAGCTATTCCTGCACCTGGGGTACAGGGTACAAAA... |
Task1_train_1462 | Located on Chromosome 1, this mutation impacts HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; 3 beta-Hydroxysteroid dehydrogenase deficiency | ACTCACTCCTGTGTGACTCCAAAGGCTGTGGAAGCTCTTTCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCC... | ACTCACTCCTGTGTGACTCCAAAGGCTGTGGAAGCTCTTTCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCC... |
Task1_train_1463 | This genomic variant is located on Chromosome 1, within the HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Congenital adrenal hyperplasia | ACTCACTCCTGTGTGACTCCAAAGGCTGTGGAAGCTCTTTCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCC... | ACTCACTCCTGTGTGACTCCAAAGGCTGTGGAAGCTCTTTCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCC... |
Task1_train_1464 | The variant affects gene HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; not provided | TCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTC... | TCTACTGTGGCCCCAATCAAAAGTCAACTAAACTCCAACTTCAAATTCACGATATCCAGCTACTCCTTGGCTCCCCGGGCCAGAATCAGACCTTCCAGGTGCCACCATAGTCATCATTTTGAACCTTGTGTGTAGGCTGATGAGAACATTCAGAGTCTTCCTGCCCACCTCAAAGAAGTCCTCTCAAGAGAACTAGCAAAGCTGGTTCACAGAGGTCTGTCAGGACAGAATTATCCAGCACATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTC... |
Task1_train_1465 | Here is a genetic alteration in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; 3 beta-Hydroxysteroid dehydrogenase deficiency | CATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAAC... | CATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAAC... |
Task1_train_1466 | Here is a variant affecting HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Congenital adrenal hyperplasia | CATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAAC... | CATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAAC... |
Task1_train_1467 | This gene mutation involves HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Congenital adrenal hyperplasia | ATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACC... | ATGCCTTCCCATAATATTTTCTTAACAAAAAGAGTTTCCCAGTGTCCAGAATACAATCTCTTCAGCTCACCACAGGGTCTACTATTACAGAGCCATTTCCTGCCAGGTGCCCAAAGTGCACCCTCATTTGATCCACATTTTTTAAAGGAATCTTGCCATGCAGTCTCACCCTCTGATTCCCAGAGCCCAGTCTCTTCAAAACACAGCTCCCCACTGCTGGCCTGACCCTCCACATTCAGACTACCCAAACTCCTTTTATAAAGCAACTAATTGCTTTTGAGTCTCCAGCACTGTCTAAAAAAACAAACAAAAAAAAAACC... |
Task1_train_1468 | This is a variant in HSD3B2 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; 3 beta-Hydroxysteroid dehydrogenase deficiency | TATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTT... | TATAGTTCAAGGAGTGTGCTAAGAGTGAATAGTTTTTTGTTTTAATTTTGACTTTCCACAGCTCCCAAAAACAAGGGATAAGAAATGACAAGGGGAGTGTTAGAGGCGTCTGTTTCTTAAAACCATTATCACTCCCGGGCTTAGAAAATACTTCACAATGATGGCCATTTCATGAGGCTGTCTCTCCAGAAACTCAAATTGCACAGAGACTTTAAAAGTGGCTAAGAATACAAAATAAGTAAATAAAAATGATCCTTTGCCTAGGAAATTCCTTCCTTCTTCAAGGGAAGACACTCCAGATACCTCCATGAGCTTTGCTT... |
Task1_train_1469 | A variant found in Chromosome 1 affects PHGDH (phosphoglycerate dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; PHGDH deficiency | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1470 | Here is a mutation in PHGDH (phosphoglycerate dehydrogenase) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; PHGDH deficiency | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1471 | A mutation on Chromosome 1 affecting PHGDH (phosphoglycerate dehydrogenase) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Neu-Laxova syndrome 1 | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1472 | Given a variant located on Chromosome 1 and affecting PHGDH (phosphoglycerate dehydrogenase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Neu-Laxova syndrome 1 | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1473 | This variant lies on Chromosome 1 and affects the gene PHGDH (phosphoglycerate dehydrogenase). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; PHGDH deficiency | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1474 | The variant affects gene PHGDH (phosphoglycerate dehydrogenase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; PHGDH deficiency | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... | GACTTATGTAACAATTATCACACACCCTCCTTTTCACTTGGAAATGGACTCTTAATCTGTTAATTATTTTCTTAACGGTTTAGAAGTGTCTTTTATTGTGTGGCTTGGATCTGTTTAAAAAGTAGGTGGGTCATAAATAATAAATAAAGAAAACAGGTGATCAGGCTTAGGAGGCCCTCTGGGTTGTGCGTTCAGACAGTATCCAAGAAGTTTGACTTGGTGTGAAAGGGTGGGATTACATGTTAATGATAGCAGGGTTTAGATTCTACACTGAAAGGAAGCAGTTAGTGAGCCCTGGGAGGAGTTGAAGGAAAGCAGTT... |
Task1_train_1475 | A variant affecting Chromosome 1, within the gene PHGDH (phosphoglycerate dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neu-Laxova syndrome 1 | TCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCT... | TCAAGAATTTCTAAGATGTTTCTAAACTGAGTCTGGCCCAGATCCATAACAGGGACTCCTGCCCCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCT... |
Task1_train_1476 | This variant impacts the gene PHGDH (phosphoglycerate dehydrogenase) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not specified | CCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAG... | CCAGAGCATCTGAGGAGGAAGAGATGAGAGCAAAGAGGCTGCCGTCCAGCAGGAGAGAGGCTCTGGGAAAGAGCTGGCTCAAGGAAAGGGAAGACCTCTGGAAGCCAGGGATGAGCGTGGGGATCCTGGTGCTGCCCCAGCAGGAAGATGCTTCGCTTTCTTCCAGGCTTGCTGAATGACAACACCTTTGCCCAGTGCAAGAAGGGGGTGCGTGTGGTGAACTGTGCCCGTGGAGGGATCGTGGACGAAGGCGCCCTGCTCCGGGCCCTGCAGTCTGGCCAGTGTGCCGGGGCTGCACTGGACGTGTTTACGGAAGTAAG... |
Task1_train_1477 | Here’s a variant in PHGDH (phosphoglycerate dehydrogenase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Neu-Laxova syndrome 1 | GGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAG... | GGAGGCCCTAATTAAGCAACAGGATGCTGGATTCTGGTTTTTGGCCCTGTCTCTTCCCTGCTGTGTGACTCTCCCTTCTGAGGCTTGGATTCTTCACTTGTAAAGTGAGAGTTAGGGGCAGATGAGCCAGGAGCGGTGAGGACACTTTGTGCTCTGTAACTTACTAAGGTGGTACCTTGGGCCGTCTGACAGCCCTCGAGAGAGAGTTTGCTCAGCCGTGGAGTGGGAATGAGAACAGTGCCCTCTGACCACCCCTCGGGCTGCTGAGTGGGCTGTGGCCACCTTTGCAGTGGATCCAGTACTGTGCGGATGTGGTTGAG... |
Task1_train_1478 | A variant found in Chromosome 1 affects HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | AAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGC... | AAATAAAACACACACACACACACACACACACACACACACACACATATATGTATATATATATTATATTCTGCACTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGC... |
Task1_train_1479 | This variant affects the gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | CTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAAT... | CTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAAT... |
Task1_train_1480 | Gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | CTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAAT... | CTTCAAATAGAACAACAGCCTATCATCCCGATCTTCTCCCTGTCTACCTCATGCAACTAGAAATGGGTTCCAGGCACCCTACATAAAGAGGGACTTCTGGTAGACCCCAGGGACAGGCCTTTGTGTAGGAAACCTTGCCAAAAGGAAAGCAGCTAATATCCAAGATATATAAGGCAGAGAAAACACAAGATAATTTTTGGTGTACATAGAGCTTCTCCCCTCTCATGAGGACAGGGTAAATTCAGTGCATTCTGAAGGTGTCTCCAGATGGAGATCAGACCACTGGACTCACCCTTCAGGCTCCCATGTTGATTGGTAAT... |
Task1_train_1481 | This mutation is located in gene HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | AAAGAATCAGATAGACCTTACATATGTTGATACAGAATTACCTCTAAGACCTAAGAGATGAGGAATATTTTGTACAATGTTTAAAATGGAATAGATATGTGTATACTTGCAGGTACTTAGAAAAAATATTGGAAGAATACATATAAACCATCAGTGTTAAATTTTGGGAAGTGGTAACAGGTCAAATGAGGAGTCTTTCTTTGCTTTATATACTTTTGTGTATGTGTATGTTTTTTTCCAAATATAAATTTTAATTATTTTCATTTAAAAAAAAAAACACAAGAAAACATGGGGACTCCCAGCCAATCTGAGCCAGAAAT... | AAAGAATCAGATAGACCTTACATATGTTGATACAGAATTACCTCTAAGACCTAAGAGATGAGGAATATTTTGTACAATGTTTAAAATGGAATAGATATGTGTATACTTGCAGGTACTTAGAAAAAATATTGGAAGAATACATATAAACCATCAGTGTTAAATTTTGGGAAGTGGTAACAGGTCAAATGAGGAGTCTTTCTTTGCTTTATATACTTTTGTGTATGTGTATGTTTTTTTCCAAATATAAATTTTAATTATTTTCATTTAAAAAAAAAAACACAAGAAAACATGGGGACTCCCAGCCAATCTGAGCCAGAAAT... |
Task1_train_1482 | The gene NOTCH2 (notch receptor 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Alagille syndrome due to a NOTCH2 point mutation | CAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAG... | CAAAATTTGTTGAAGAAAAGTATTCTTCTCCCCTTCTCTCTCCAGGAATGATATATGCAGGAGAACACAATACAGTATGTCCATTTTCCAAAGAAACAACATACTTGAAAGGTTTGTGCTGAGAACCATACCAAAGTAAACCTTGTGAGACTCCAAGGGATACCGGGAAGACAGGAGGGGAAAGGAGACCAAAGTTGCTTTCATGGGCCAGAATGATCAAAAGCACAAAGGTCTTGCCCTATAACATGCTGGTAGGGCTACAATCACGGAGAGGTGCAAAACCAAAAGCACCAAATGAAGACAAAAGAATGTCCAAGGAG... |
Task1_train_1483 | Here’s a variant in NOTCH2 (notch receptor 2) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Alagille syndrome due to a NOTCH2 point mutation | TGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCT... | TGTCAGGGAAGAGAAAGAGTTACACCAAGCTATCTATAGCCAGCCTACTGCAAGCTGAGTACTGAGAGGGCAGAGAACTCCATCCTGACACATGCCTGGACAAGCCCAATATCCTCATCAAGCTCTCGAAACCCAGTGTCTGCCCAAACTGCTTCCATCTTTGTCTATACATATAACAAGAGAAGCTGTAAGGAGAAACGGGAATGGGCTTATAACTGAGGCACTGCTATGAGCCTCCTCAAGCTCAGAGCCCACAAACTGTACCTTGTTGTCCTGCATGTCTCGGTTGGCCCCATTTTTCAACAACAAAAGAGTTGCCT... |
Task1_train_1484 | A variant on Chromosome 1 in gene NOTCH2 (notch receptor 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Alagille syndrome due to a NOTCH2 point mutation | TCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTT... | TCACATTTGCCACCTTTTCCTCTGATAGTATCATTTCTGTAAAGAATAATGGGAAAGTACAAGTCTTTTTAAGCTGGGGGCTCTTCTCTAAACACGTTTTTCTGTTCAAGTTTAAGTGCTGTTATTTTAATTGGACATTTAAAAATATCTAATATTAATAGAACAATTAATACATGCATAAGATACTAACTATCCTCTGCTTTGGGATATTATTTTTCTATCCCACTACAATCTAACCCATTTTATCAGCCTGTTTAGTCTCAACACACTGTACATGAAGCAATGTGAAATCCTTCCCTTTCTGAGCTGATAATTTCTTT... |
Task1_train_1485 | Given a variant located on Chromosome 1 and affecting NOTCH2 (notch receptor 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Alagille syndrome due to a NOTCH2 point mutation | TCAGACACGGAGTACTGGAACAGTCATCAATATCAATCTGGCAAACTGGCCCAGTGAAACCTCAAAAAGGGACAGTGGTAACATGAGTCAAAGGATTATCTTGTGTCTCCCTTTACCATGAGAATGATGTTAGGTTACTAGCAGGGCTTATACCAATGGGTCAATAAGCCTATGCTTTATTATTCTCCCCAACAGGTAACTGGAATAACCAGGTGACACTCAGGGAATCAGAGGCACTTGTGGTGTGTCTCTACCATTGCTTCTTCACAGACAGACTTCACTTCTAAATGAAGGATGTAGGAAGTGAAATTTATAGGTGG... | TCAGACACGGAGTACTGGAACAGTCATCAATATCAATCTGGCAAACTGGCCCAGTGAAACCTCAAAAAGGGACAGTGGTAACATGAGTCAAAGGATTATCTTGTGTCTCCCTTTACCATGAGAATGATGTTAGGTTACTAGCAGGGCTTATACCAATGGGTCAATAAGCCTATGCTTTATTATTCTCCCCAACAGGTAACTGGAATAACCAGGTGACACTCAGGGAATCAGAGGCACTTGTGGTGTGTCTCTACCATTGCTTCTTCACAGACAGACTTCACTTCTAAATGAAGGATGTAGGAAGTGAAATTTATAGGTGG... |
Task1_train_1486 | Gene NOTCH2 (notch receptor 2) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Keratoacanthoma | AGAATATGACCCATGGGAAAAAAATAAAATCCCGAATAGCCTACAACTAAGGCTTCTGTGAGGTATGAGCATTCTGAAATATATACACAGACGAAGAGGTCATGGGCCATTCAAGAATAGACTTGGACTTTTGGCCACAAAGGACTTGTAAGATATAGTAGCTAAAACAAATTCTCTATTTCTGTACACACACACTCCTATCACCAAGCACTTACTCTAATGATTTCCTCATGCACAGCCCACACACATTCTCTCCCTGCTCTCTTCCCTGTGGTCAGTTGGCTTTGTGCTTTAAGAGAAAACAGGGCCAGGTCGTGGGC... | AGAATATGACCCATGGGAAAAAAATAAAATCCCGAATAGCCTACAACTAAGGCTTCTGTGAGGTATGAGCATTCTGAAATATATACACAGACGAAGAGGTCATGGGCCATTCAAGAATAGACTTGGACTTTTGGCCACAAAGGACTTGTAAGATATAGTAGCTAAAACAAATTCTCTATTTCTGTACACACACACTCCTATCACCAAGCACTTACTCTAATGATTTCCTCATGCACAGCCCACACACATTCTCTCCCTGCTCTCTTCCCTGTGGTCAGTTGGCTTTGTGCTTTAAGAGAAAACAGGGCCAGGTCGTGGGC... |
Task1_train_1487 | This gene mutation involves NOTCH2 (notch receptor 2) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Keratoacanthoma | CGAATAGCCTACAACTAAGGCTTCTGTGAGGTATGAGCATTCTGAAATATATACACAGACGAAGAGGTCATGGGCCATTCAAGAATAGACTTGGACTTTTGGCCACAAAGGACTTGTAAGATATAGTAGCTAAAACAAATTCTCTATTTCTGTACACACACACTCCTATCACCAAGCACTTACTCTAATGATTTCCTCATGCACAGCCCACACACATTCTCTCCCTGCTCTCTTCCCTGTGGTCAGTTGGCTTTGTGCTTTAAGAGAAAACAGGGCCAGGTCGTGGGCACTTACCAGGAGGACACAGGCACTGGAAACGA... | CGAATAGCCTACAACTAAGGCTTCTGTGAGGTATGAGCATTCTGAAATATATACACAGACGAAGAGGTCATGGGCCATTCAAGAATAGACTTGGACTTTTGGCCACAAAGGACTTGTAAGATATAGTAGCTAAAACAAATTCTCTATTTCTGTACACACACACTCCTATCACCAAGCACTTACTCTAATGATTTCCTCATGCACAGCCCACACACATTCTCTCCCTGCTCTCTTCCCTGTGGTCAGTTGGCTTTGTGCTTTAAGAGAAAACAGGGCCAGGTCGTGGGCACTTACCAGGAGGACACAGGCACTGGAAACGA... |
Task1_train_1488 | Given this context: Chromosome 1, gene PEX11B (peroxisomal biogenesis factor 11 beta) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Peroxisome biogenesis disorder 14B | CATCTCTCCCCATTTGATATTCTCCGATAGTTTAAGATCTAAGTGATTGGAAGCCAAGTGACTGATCAAGACTTATATACTCTGGAAAGATCCTAAGATATCTTTCCCTCATATAAGACAAGCTATGCAATATAGAGGCTACAAAAAAAAATCTTAAAGGAGAACAGGATATCAAACCTGAATGAACGCTGGGCCCACTTCTCCTGATCCACACGGGGAGCCAGTCCAGACTTTCCAGCCCACAGGACATTGTCACAGGCGAAGTACAAGGCTCGATTGAGGTGACTAACAGTGATGCAGAATCTCAGGACAACATCTGA... | CATCTCTCCCCATTTGATATTCTCCGATAGTTTAAGATCTAAGTGATTGGAAGCCAAGTGACTGATCAAGACTTATATACTCTGGAAAGATCCTAAGATATCTTTCCCTCATATAAGACAAGCTATGCAATATAGAGGCTACAAAAAAAAATCTTAAAGGAGAACAGGATATCAAACCTGAATGAACGCTGGGCCCACTTCTCCTGATCCACACGGGGAGCCAGTCCAGACTTTCCAGCCCACAGGACATTGTCACAGGCGAAGTACAAGGCTCGATTGAGGTGACTAACAGTGATGCAGAATCTCAGGACAACATCTGA... |
Task1_train_1489 | This variant lies on Chromosome 1 and affects the gene HJV (hemojuvelin BMP co-receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Juvenile hemochromatosis | TGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTA... | TGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTA... |
Task1_train_1490 | Here is a variant affecting HJV (hemojuvelin BMP co-receptor) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hemochromatosis type 2A | TGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTA... | TGGAGTGCAGTGGCGTGGTCTCAGCTCACTGCAACCTCTGCCTCCTGGCCCGGGTTCAAGCAATTCTCGATTCTCATGCCTCTGCCTCCTGAGTAGCTTGGATTACAGGATTACAGGCATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTA... |
Task1_train_1491 | This alteration occurs within gene HJV (hemojuvelin BMP co-receptor) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemochromatosis type 2A | CATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGC... | CATGGACTATCATGCCTGGCAAATTTCTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACATTGGCCTACCAAAGTGCTGGATTACAGGTGTCAGCCACCGCGCCCAGCCTCAGAGTAGCTTTTGTGGTGACATTGACCACCACAACTCCCCTTTTAGAATCTTTACCAGCTCCACAACCAGAATCTTTAATGGCTCTCTGCTTCCTTGACAATATAGTATAGTGATTAAAAATTAAGTTTCGGGATCCAAACGGCATAGGTTCAGTTTCTGGC... |
Task1_train_1492 | Located on Chromosome 1, this mutation impacts HJV (hemojuvelin BMP co-receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; HJV-related disorder | TTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAA... | TTTGTAGCTTTAATAACAGATTAGTTAGGGGGTAGGGATGATACTTCTGTCCTACCTGTGCCATTCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAA... |
Task1_train_1493 | Assess the clinical impact of this variant on gene HJV (hemojuvelin BMP co-receptor), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGA... | TCTTCAAAAGCAGAGACTCCCTTCACCTAAGAGCTAGACAATGCCTGCTTCATTTTTGAATCAAGAAAGCAGAACATACCTTACACACACATATTCATCAAATAGACTTCTTTCCCTAATTATGTCTTCCTCCTTTGAGTTTCTTATGGCTAATGATCATGTCTTCTGCTTTCAGCTCTTGCCTCTTAAAAATCTCAACCCTTAAATCTTTACTGATCATTAAAACCTTCATGACCTCTAAACTTATAAGGGTGAAATCTGCAGTAAATGGATTAGAACAATTTGTTTACTATAAATGAGGCTGGAAAAATTGGTGAAGA... |
Task1_train_1494 | Gene GJA5, LOC122128420 (gap junction protein alpha 5| Sharpr-MPRA regulatory region 3144), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Atrial fibrillation, familial, 11 | CAGAGATGGGCAGGTGAGTCAGAGGTTGAACCTCCTTCTGAGCCTTTACCCTCCTCTGTCCCAACCTCTTGTGGCTATCTGTTTAGGTTAATAACTGCCAGGCAGCCGGAGAGGAGAGCAGGAAGACACAAGTTTCTCTGTGGTTTCCTTTCCTTATTTCAGGACTCCCCAAGCCTTTACCCATCCCATCAGCACCCACACACACACACACGTGCATTTTAATAATGTAATAATCCCTCTATAAGTCTCAGTTTCCAATTCCAAGCATCGTTTACCTTCATCCAAAACAACAGCAACCCATTATGGATCCAGTGAATACA... | CAGAGATGGGCAGGTGAGTCAGAGGTTGAACCTCCTTCTGAGCCTTTACCCTCCTCTGTCCCAACCTCTTGTGGCTATCTGTTTAGGTTAATAACTGCCAGGCAGCCGGAGAGGAGAGCAGGAAGACACAAGTTTCTCTGTGGTTTCCTTTCCTTATTTCAGGACTCCCCAAGCCTTTACCCATCCCATCAGCACCCACACACACACACACGTGCATTTTAATAATGTAATAATCCCTCTATAAGTCTCAGTTTCCAATTCCAAGCATCGTTTACCTTCATCCAAAACAACAGCAACCCATTATGGATCCAGTGAATACA... |
Task1_train_1495 | This alteration in GJA5, LOC122128420 (gap junction protein alpha 5| Sharpr-MPRA regulatory region 3144) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Atrial fibrillation, familial, 11 | GTTGAACCTCCTTCTGAGCCTTTACCCTCCTCTGTCCCAACCTCTTGTGGCTATCTGTTTAGGTTAATAACTGCCAGGCAGCCGGAGAGGAGAGCAGGAAGACACAAGTTTCTCTGTGGTTTCCTTTCCTTATTTCAGGACTCCCCAAGCCTTTACCCATCCCATCAGCACCCACACACACACACACGTGCATTTTAATAATGTAATAATCCCTCTATAAGTCTCAGTTTCCAATTCCAAGCATCGTTTACCTTCATCCAAAACAACAGCAACCCATTATGGATCCAGTGAATACAGAGACCAGGCCAATCCCTGGGGAA... | GTTGAACCTCCTTCTGAGCCTTTACCCTCCTCTGTCCCAACCTCTTGTGGCTATCTGTTTAGGTTAATAACTGCCAGGCAGCCGGAGAGGAGAGCAGGAAGACACAAGTTTCTCTGTGGTTTCCTTTCCTTATTTCAGGACTCCCCAAGCCTTTACCCATCCCATCAGCACCCACACACACACACACGTGCATTTTAATAATGTAATAATCCCTCTATAAGTCTCAGTTTCCAATTCCAAGCATCGTTTACCTTCATCCAAAACAACAGCAACCCATTATGGATCCAGTGAATACAGAGACCAGGCCAATCCCTGGGGAA... |
Task1_train_1496 | Located on Chromosome 1, this mutation impacts GJA5 (gap junction protein alpha 5). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Atrial fibrillation, somatic | ATAAAGGCCCTGCCAAGAGAGCTGGAGATTCCCCTACTATTTCCTTGCCCCTGCTAAAGCCTCCAGGAGAGAGAGATCTGGGGGCCTCCATAGCTGTCATCACACCTCCTCTTGGCACTAAGTTGGCAGTCAGCAAAGGAAGTAAATAGGAGGGGAAAATAGTTTTCCAGTGTTTTCTCTCCATTTTTATTTTCATCTTCACAGCAGAATTTTTTTTTCCACAAGGGGAATCTGAGAAGTACAATGCTTTCTTTGTTTTAACAAGGCCTGGGGAAATTCCACTGGCCTCAGTGGCTGATGATCTGGTCAGGGTTCGAGAG... | ATAAAGGCCCTGCCAAGAGAGCTGGAGATTCCCCTACTATTTCCTTGCCCCTGCTAAAGCCTCCAGGAGAGAGAGATCTGGGGGCCTCCATAGCTGTCATCACACCTCCTCTTGGCACTAAGTTGGCAGTCAGCAAAGGAAGTAAATAGGAGGGGAAAATAGTTTTCCAGTGTTTTCTCTCCATTTTTATTTTCATCTTCACAGCAGAATTTTTTTTTCCACAAGGGGAATCTGAGAAGTACAATGCTTTCTTTGTTTTAACAAGGCCTGGGGAAATTCCACTGGCCTCAGTGGCTGATGATCTGGTCAGGGTTCGAGAG... |
Task1_train_1497 | This sequence change occurs on Chromosome 1, altering GJA5 (gap junction protein alpha 5). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Atrial fibrillation, familial, 11 | CTGCCAAGAGAGCTGGAGATTCCCCTACTATTTCCTTGCCCCTGCTAAAGCCTCCAGGAGAGAGAGATCTGGGGGCCTCCATAGCTGTCATCACACCTCCTCTTGGCACTAAGTTGGCAGTCAGCAAAGGAAGTAAATAGGAGGGGAAAATAGTTTTCCAGTGTTTTCTCTCCATTTTTATTTTCATCTTCACAGCAGAATTTTTTTTTCCACAAGGGGAATCTGAGAAGTACAATGCTTTCTTTGTTTTAACAAGGCCTGGGGAAATTCCACTGGCCTCAGTGGCTGATGATCTGGTCAGGGTTCGAGAGAGGACAACA... | CTGCCAAGAGAGCTGGAGATTCCCCTACTATTTCCTTGCCCCTGCTAAAGCCTCCAGGAGAGAGAGATCTGGGGGCCTCCATAGCTGTCATCACACCTCCTCTTGGCACTAAGTTGGCAGTCAGCAAAGGAAGTAAATAGGAGGGGAAAATAGTTTTCCAGTGTTTTCTCTCCATTTTTATTTTCATCTTCACAGCAGAATTTTTTTTTCCACAAGGGGAATCTGAGAAGTACAATGCTTTCTTTGTTTTAACAAGGCCTGGGGAAATTCCACTGGCCTCAGTGGCTGATGATCTGGTCAGGGTTCGAGAGAGGACAACA... |
Task1_train_1498 | A variant found in Chromosome 1 affects GJA8 (gap junction protein alpha 8). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Cataract 1 multiple types | TCTCCCACAAGAAGCGAACAGCTATTGTGCCTGCCCTGACAGCACAGGCTGGACATTGCAGATGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGC... | TCTCCCACAAGAAGCGAACAGCTATTGTGCCTGCCCTGACAGCACAGGCTGGACATTGCAGATGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGC... |
Task1_train_1499 | A variant was discovered in gene GJA8 (gap junction protein alpha 8), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Cataract 1 multiple types | CACAAGAAGCGAACAGCTATTGTGCCTGCCCTGACAGCACAGGCTGGACATTGCAGATGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAA... | CACAAGAAGCGAACAGCTATTGTGCCTGCCCTGACAGCACAGGCTGGACATTGCAGATGCCTGCAATTAGTATCCTGCCACCAGGTTCTGTCTGGCCAGACTCCAAATCACAGGTTGGAAATAGGCTTTTGTGTTTAACAAATATCACTGTGATTAAAAAACAATAGGCATATCCCTTTAGCCCCATAGGTTCCTAGGCCTATAGCATGGGGCATGGCTAGAAGAAGCCCAGAGCAAGATCCTCTAACATGGGCTCTTGCCCTGGTCTGAGGGCAGTGATGAGTAAACTTATAACTCTAGAGATGTTCAAGCTGCAGGAA... |
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