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_21900 | A mutation in POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Mitochondrial DNA depletion syndrome | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCC... | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCC... |
Task1_train_21901 | This alteration in POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Progressive sclerosing poliodystrophy | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCC... | ATCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCC... |
Task1_train_21902 | A variant on Chromosome 15 in gene POLGARF, POLG (POLG alternative reading frame| DNA polymerase gamma, catalytic subunit) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | TCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCT... | TCTAGTTAGAGAAGGTGCACAGTAAACCAGGACCGTGCACATGACACACAAGCACAACTCCATGGCCCTCCCCTTCAGGGCCTCTGTCAAATCCAGAGTCCAGGGCCCAGATGGACACCACTGAACAGAAGGGCTCCATTCTTTCAGCCTAGAAAAGCTAAGGTCCCCAACCTGAGATAGAACCAGCGCCACCTGATTACAGTGGGCCCGGGTACCAGGAACACACTGACCCCCAGAGATTCCCACATGGGCTCCCCCTCACCTCTCCAAGAAGAGCGGTAGCTGCTGCTGGAAAACCTCATGGGTGGCCCACACGTCCT... |
Task1_train_21903 | Assess the clinical impact of this variant on gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Progressive sclerosing poliodystrophy | ATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCC... | ATTAAAAAGAAACAAGCCAAATTTAAGATGAGTAGGGATCCATGCCATTAATACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCC... |
Task1_train_21904 | This variant affects the gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Progressive sclerosing poliodystrophy | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21905 | Chromosome 15 houses a mutation in gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Progressive sclerosing poliodystrophy | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21906 | Gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21907 | Located on Chromosome 15, this mutation impacts POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Mitochondrial DNA depletion syndrome 4b | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21908 | Located on Chromosome 15, this mutation impacts POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21909 | This alteration occurs within gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... | TACTAGTTTTACTGTGAATCTTAGAAAAATGCTGATGGCCAGAGAGACGTCCCTCTAGCCTGATGGCCGAAGCCCTTACCAACACCCTTTGGGAAGAAGCTGCCCTGTGGGAGGCTCATAGCTGACTACCGCTTCTCCTCCCATTGTAAATTGTGGGCTGGTCAGGTACCTAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCAT... |
Task1_train_21910 | This variant lies on Chromosome 15 and affects the gene POLG, POLGARF (DNA polymerase gamma, catalytic subunit| POLG alternative reading frame). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | TAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAA... | TAATGTTACTCAGCTAAGGGGCAGGGGCATGCCCAGGTTCAAAGTGGACCGCTATTAGGGCACCATGTGGCACCCACCCCCACCCACCAGTCAGACTCCCAGGAGGAAGGTCCCAGCATGAGCCCAGGCCTTAACAGTGACTTCTGCCATCAGGTCAACTAAGCAATGCCCCGAGTACCACTGGCAAGAATGGAATGAGAATGAGGGCAGAGCAGGGAAGGACAGGGAGGGAAAGGAGAGGTAAAAAGAGAGAAAGAAGGAGAAAGAGAAAAGAAAAGGGGACTTGAGGTAATTTGGCCTAAAATGACCGACAGATCAAA... |
Task1_train_21911 | Gene KIF7 (kinesin family member 7), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Multiple epiphyseal dysplasia, Al-Gazali type | GGCTCGGAGTCTCCCTCCAAGGCAGGGTCTGCCCCGAGGGCTTACAGGGGGTTTTTCCGGACATCAATCATCCCCGGGCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGA... | GGCTCGGAGTCTCCCTCCAAGGCAGGGTCTGCCCCGAGGGCTTACAGGGGGTTTTTCCGGACATCAATCATCCCCGGGCTGGCTCGTCGCAGTTCCCGCCGGGGCTTGGACAAAGGCCCAAAGTTCCAGGGCAGGCCTGCCTCACCCACAGGAAGCACCCGCCCCACCAGGGGCTCAGCCGCCTCCCGCTGCCTCAGTTCCTCGGGGGACCCCTGCTCCTCACCACACAGGCTCGAGCGTTTCCAGGTCAAGGGTAACGGAGCGTGGACCAAGTCCCGCGTCTCCTCCCGGGTGCGGGGGGCCCCCTCAGTGAGGGGGGA... |
Task1_train_21912 | The gene LOC130057891, MESP2 (ATAC-STARR-seq lymphoblastoid silent region 6806| mesoderm posterior bHLH transcription factor 2) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Spondylocostal dysostosis 2, autosomal recessive | TTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGC... | TTCTTTCCCACAAGACTGAAATCTCATTAGAGCAGAGACCATGACTAGCTCATTCACCCTGTGTGCTCGACATTTACTGGTTGCTAAATATGAATTCGGCCAGGCGCAGTGGCTGACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACTGGAGGTCAGGAGTTTAAGACCAGCCTGGCTAACATGGCAAAAACCAGTCTCTACTAAAAATACAACAATTAGCCAGACGTGATGGTGCATACCTGTAGTCCCACCTACTTGAGAGGCTGAGGCAGAAGAATCACTTGAACCCAGGAGGCAGAGGTTGC... |
Task1_train_21913 | A variant was discovered on Chromosome 15, affecting IDH2 (isocitrate dehydrogenase (NADP(+)) 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; D-2-hydroxyglutaric aciduria 2 | TTTTACTGCAATCTGATTTGTCTTTTAGGACACCCTAGGGCTTGGGGGTTTGCAGGCTTCCCCAACATTCTCTTCCATCCATTAGGTTCACTATGCAAAATGCATTCGCTGTAGTTTAAAGAACCTCCAGTCCCGCTTGATCCCATTTTCCTACTGGAACCAAAGAGTCATGAGGCTCCATCATGGACTGGAGCAACCTTAGGGCTGTCAACCTAGCCCTGGAATTCCTGTGCCCTCCTTTCTCTCTAAGAGCAGCCTCAGTCATACACCAGTCCAAACCTAATTTGTGATCCTCTCTCACTCAGATGCCAGGGAGCTCC... | TTTTACTGCAATCTGATTTGTCTTTTAGGACACCCTAGGGCTTGGGGGTTTGCAGGCTTCCCCAACATTCTCTTCCATCCATTAGGTTCACTATGCAAAATGCATTCGCTGTAGTTTAAAGAACCTCCAGTCCCGCTTGATCCCATTTTCCTACTGGAACCAAAGAGTCATGAGGCTCCATCATGGACTGGAGCAACCTTAGGGCTGTCAACCTAGCCCTGGAATTCCTGTGCCCTCCTTTCTCTCTAAGAGCAGCCTCAGTCATACACCAGTCCAAACCTAATTTGTGATCCTCTCTCACTCAGATGCCAGGGAGCTCC... |
Task1_train_21914 | Chromosome 15 houses a mutation in gene BLM (BLM RecQ like helicase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Bloom syndrome | AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACT... | AGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCCAGTGATCTGTCCGCCTCAGCCTCCCAAAGTTCTGGGATTACAGGCGTGAGCCACTATGCCCAGCCGAGACCACTTTTAAATTAACTCTGGCAGAAGTACAGTGCATAGGAAATGGCACTTACCAAGCACTGTGCCCAACACTGCATATATCACCTCATTACCTTATTTGTTCAAAACAACTAACT... |
Task1_train_21915 | Here is a variant affecting UNC45A (unc-45 myosin chaperone A) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Osteootohepatoenteric syndrome | TGGAGTGAGCTGTGGAAAGGCCCCTCCTGCTTGTCTCTAGCACCCCCACCTCTCTCTTCAGCTCTGGTCCACCACCCTCACTTGTGCCAGACCACCCGGGATGTCCATGGCCGTCACTACCCTGGTTTCTTTTGCCCTCGTCTGTCTGATTCTCCAGAGGAAGCCTACTGCTGCCACCTGCAGGCTGCAGGGGGCTCCTGCTGCACCCGGGCTGAATTTGAGGCCCTGTACCAAGTCAATCTGTCCGCTCTTCCGCCCCCGCCCATCCTCAGGTGAGATCTCCAACCCCAGAGCCACTGGAACATCGACAGGGTGTTCCA... | TGGAGTGAGCTGTGGAAAGGCCCCTCCTGCTTGTCTCTAGCACCCCCACCTCTCTCTTCAGCTCTGGTCCACCACCCTCACTTGTGCCAGACCACCCGGGATGTCCATGGCCGTCACTACCCTGGTTTCTTTTGCCCTCGTCTGTCTGATTCTCCAGAGGAAGCCTACTGCTGCCACCTGCAGGCTGCAGGGGGCTCCTGCTGCACCCGGGCTGAATTTGAGGCCCTGTACCAAGTCAATCTGTCCGCTCTTCCGCCCCCGCCCATCCTCAGGTGAGATCTCCAACCCCAGAGCCACTGGAACATCGACAGGGTGTTCCA... |
Task1_train_21916 | A mutation in UNC45A (unc-45 myosin chaperone A), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Osteootohepatoenteric syndrome | GAGAAGTTGAAGGGTCAAACTGGGCTGGGCTGCTGTGGAGCCCACTGATGTCTTCTTGTTGTTGCCAGATCCTGCCCGGGAGCTGAAGGTCCTCATCAGTAACCTCTTAGATCTGCTGACAGAGGTGGGGGTCTCTGGCCAAGGCCGAGACAATGCCCTGACCCTCCTGATTAAAGCGGTGCCCCGGAAGTCTCTCAAGGACCCCAACAACAGCCTCACCCTCTGGGTCATCGACCAAGGTAGGTGATATAGTTCACAAAAACTTGCTTCAGCAGCTGAAGTTTGTTTATTCTTAGGAGTAATAAGAAAAGTTGTGAGTG... | GAGAAGTTGAAGGGTCAAACTGGGCTGGGCTGCTGTGGAGCCCACTGATGTCTTCTTGTTGTTGCCAGATCCTGCCCGGGAGCTGAAGGTCCTCATCAGTAACCTCTTAGATCTGCTGACAGAGGTGGGGGTCTCTGGCCAAGGCCGAGACAATGCCCTGACCCTCCTGATTAAAGCGGTGCCCCGGAAGTCTCTCAAGGACCCCAACAACAGCCTCACCCTCTGGGTCATCGACCAAGGTAGGTGATATAGTTCACAAAAACTTGCTTCAGCAGCTGAAGTTTGTTTATTCTTAGGAGTAATAAGAAAAGTTGTGAGTG... |
Task1_train_21917 | A genetic alteration is present in RCCD1-AS1, UNC45A, RCCD1-AS1, UNC45A (RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A| RCCD1 and UNC45A antisense RNA 1| unc-45 myosin chaperone A) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Osteootohepatoenteric syndrome | CTGGCAATTTGGGAGGATGAGGCAGGAGGATCACTGGAGCCCAGAAGTTCAGGCCAGCCTGAGCAGTGTAGCAATACCTCGTCCCTATTTAAAAAAGAAATTAAAGAGAATATCAGGAAGAATAGCTAATGCATGCTGGGCTTAATACCTGGGTGATGGGATGATCTGTGCGGTAAACCACAACGGCACATGGTTACCTGTGTAACAAACCTGCACGTCCTGCACATGTACCCCTGAACTTAACAGTTGGAAAAAAAATTTGCAAGGTGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGGA... | CTGGCAATTTGGGAGGATGAGGCAGGAGGATCACTGGAGCCCAGAAGTTCAGGCCAGCCTGAGCAGTGTAGCAATACCTCGTCCCTATTTAAAAAAGAAATTAAAGAGAATATCAGGAAGAATAGCTAATGCATGCTGGGCTTAATACCTGGGTGATGGGATGATCTGTGCGGTAAACCACAACGGCACATGGTTACCTGTGTAACAAACCTGCACGTCCTGCACATGTACCCCTGAACTTAACAGTTGGAAAAAAAATTTGCAAGGTGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGGA... |
Task1_train_21918 | A change on Chromosome 15 affects gene VPS33B (VPS33B late endosome and lysosome associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Arthrogryposis, renal dysfunction, and cholestasis 1 | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTA... | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTA... |
Task1_train_21919 | A genomic change on Chromosome 15 affects VPS33B (VPS33B late endosome and lysosome associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Cholestasis, progressive familial intrahepatic, 12 | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTA... | TGTGGAATGACCAGGTAGGAAATACTTGTGTGGCGCTAAGGAGTGAGATGAAGGCTTGAGATCTGGAAGTGGATGACAACAAAGGACAGAGAGAGGGGAGATGTCAGCAAATGGGATGAGCAGAGAGGAGTAATCAAAGAACAACCTAAGAGACTGTGGGAGGACAAAGAAAGGGTATTATGGAAGCTGAATAAGACAATTTCAAGGAAAGCATAGTCATCAGTGAGATCAAGTTGGAAGAGGCCTGAAAAGAGGCCACTAATATAGGTGGTTGTAATTCCTTCTTTTTTTTTTTTTTTTTGAGACAAGGTCACAGCTTA... |
Task1_train_21920 | A mutation found in VPS33B (VPS33B late endosome and lysosome associated) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Arthrogryposis, renal dysfunction, and cholestasis 1 | TTTTTAATACTTGAAAGAAATTAACAGTGTTAGTAGTGTTTATAACTTATGGTAGGGCTATAAGTAGTTTTCTTTTCCTTTTTACTTTCCTTAATCTTCTTACATTTTCTATAATGTGCAAGTGTTATTTTATAATCACCATAAAAAAGTTATGTGTAAAGAAGTATCCATGGAACTCAGCAACTGGTTCAGTTAAGTATCAGGGTGAAGGAGAGGCAAAGATGATTCTGATATTTCAAGCTGAATAGCAGTGCACATTAACAAAAATTAAGTCAGAAGTTAGTTAGGAGAGGACGTTATTGCCTGGAAATCCACTTTGG... | TTTTTAATACTTGAAAGAAATTAACAGTGTTAGTAGTGTTTATAACTTATGGTAGGGCTATAAGTAGTTTTCTTTTCCTTTTTACTTTCCTTAATCTTCTTACATTTTCTATAATGTGCAAGTGTTATTTTATAATCACCATAAAAAAGTTATGTGTAAAGAAGTATCCATGGAACTCAGCAACTGGTTCAGTTAAGTATCAGGGTGAAGGAGAGGCAAAGATGATTCTGATATTTCAAGCTGAATAGCAGTGCACATTAACAAAAATTAAGTCAGAAGTTAGTTAGGAGAGGACGTTATTGCCTGGAAATCCACTTTGG... |
Task1_train_21921 | This alteration in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | GATACCTGTTAGGTGATCAGGAAGTTACATGGTTTTTCTCATCTTTCCCCACTTCCCAGTATTGAGAACCTCCCCTCGACCCCTGCTCTCCCATTTTTTCTCATTGCTTCCTCATGGTAACTGAAAGGCCTCCGTATTGTAATGTGCTGTGGATCGCATGGTGTTATTTGCAGCAGTCCCAGTTTGCAGTGTACTGCCCTGTGCACCTCTAGAAGATGCAGTGATGGTAAATATAGAACTTCCCCTTACCCTTTCAGGTTTTGTGCCACGTGTCTTATCTCCTGGCTTCTGAACTCAGGGACTTTTCTGTTAATGTTACT... | GATACCTGTTAGGTGATCAGGAAGTTACATGGTTTTTCTCATCTTTCCCCACTTCCCAGTATTGAGAACCTCCCCTCGACCCCTGCTCTCCCATTTTTTCTCATTGCTTCCTCATGGTAACTGAAAGGCCTCCGTATTGTAATGTGCTGTGGATCGCATGGTGTTATTTGCAGCAGTCCCAGTTTGCAGTGTACTGCCCTGTGCACCTCTAGAAGATGCAGTGATGGTAAATATAGAACTTCCCCTTACCCTTTCAGGTTTTGTGCCACGTGTCTTATCTCCTGGCTTCTGAACTCAGGGACTTTTCTGTTAATGTTACT... |
Task1_train_21922 | Given this context: Chromosome 15, gene CHD2 (chromodomain helicase DNA binding protein 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Developmental and epileptic encephalopathy 94 | ATATTTTCATACAAATTCAAATTTATTTTTGGTAAATACTTTCATTAAAATTGTGTAACTTAAACACTGGCTGATTTCATTGGCCTAATTTTGAGTTTCTAAGAATATAGTTTTAGCTTTGTTAAATCATTAGTTAACCGTTAAAGACGAAAAAAGAGAAATTTATAGGTTTACAAAATAGCGTAAAGCACTACATTCCAAAAATGATTGCAAACAAAGAAAATGAACTCTAAAAAATTGTAGTCAGAGAAGTTTTCCTTGCTATCTCCAGTTCTCCTTTTCTTTGTTCTTTTTACCCCCACTTGGGGGCGATCACCTGC... | ATATTTTCATACAAATTCAAATTTATTTTTGGTAAATACTTTCATTAAAATTGTGTAACTTAAACACTGGCTGATTTCATTGGCCTAATTTTGAGTTTCTAAGAATATAGTTTTAGCTTTGTTAAATCATTAGTTAACCGTTAAAGACGAAAAAAGAGAAATTTATAGGTTTACAAAATAGCGTAAAGCACTACATTCCAAAAATGATTGCAAACAAAGAAAATGAACTCTAAAAAATTGTAGTCAGAGAAGTTTTCCTTGCTATCTCCAGTTCTCCTTTTCTTTGTTCTTTTTACCCCCACTTGGGGGCGATCACCTGC... |
Task1_train_21923 | The variant affects gene CHD2 (chromodomain helicase DNA binding protein 2), which is on Chromosome 15. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Developmental and epileptic encephalopathy 94 | AAAAAAAAAAAAGATTCCAGGAGGGTCTTAATTTTTACTTGCATGCCTTTAGGCTACCATATGAAAGTGGTCATGAGGAGACGATTCTTTTTTTGAAGGTGGGTGGGGAGGATTAGAGAAAGTCAAACGGGGCAAGATAAAAAAAGGATGTCAGATGGCATCTTATTGCATGTGTATGGTGAAAGTAGAGAGGAAGTAAGTGTGAGCTCAATTCCAGGAGCCCAAATCCTAGAAGGAGAGGGCAGTATCAGACATTCCCCCCAAAAGTTGACCCTGGCTGTGAGGCTGGGAACATAGCAGAACACTGCTACTTAAAACCT... | AAAAAAAAAAAAGATTCCAGGAGGGTCTTAATTTTTACTTGCATGCCTTTAGGCTACCATATGAAAGTGGTCATGAGGAGACGATTCTTTTTTTGAAGGTGGGTGGGGAGGATTAGAGAAAGTCAAACGGGGCAAGATAAAAAAAGGATGTCAGATGGCATCTTATTGCATGTGTATGGTGAAAGTAGAGAGGAAGTAAGTGTGAGCTCAATTCCAGGAGCCCAAATCCTAGAAGGAGAGGGCAGTATCAGACATTCCCCCCAAAAGTTGACCCTGGCTGTGAGGCTGGGAACATAGCAGAACACTGCTACTTAAAACCT... |
Task1_train_21924 | A variant on Chromosome 15 in gene CHD2 (chromodomain helicase DNA binding protein 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Developmental and epileptic encephalopathy 94 | CTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACT... | CTTTTTGCATAGCTCTCAGTTGATTCCCACTCACTATGATGGCTATATAGAACACAAGTTCTCTACCATTTCTGCAGTATTTTAAAAATTCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACT... |
Task1_train_21925 | Here’s a variant in CHD2 (chromodomain helicase DNA binding protein 2) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Developmental and epileptic encephalopathy 94 | TCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTT... | TCCTTTAAAAAACTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTT... |
Task1_train_21926 | Here is a mutation in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 94 | CTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCT... | CTAAATATTTATTGTGGGACAAAATATTATATGCTTACTTAGAATATTGGGAAGATGGTAAAGAATACAAAGAAAAAAACAATTGTACCCCTCATTCTAGACACAACTTGCTGTTCACGTCTTTGGGGTGTATTTCCATTCCTACTAGATGGAACCATTTATATGTTTACCTAATTCGGATCATGTTGCATACAGTTTTGTTCCCTTCAAAATTATACTTTGAGGCTAGGCGCGCATAGTGGCTCACACCTGTAATCTTAGCACTTTGGGAGGCCAAGATGGGGGAGGATCACTTGAGACCAGGAGTTTGAGACCAGCCT... |
Task1_train_21927 | Consider a variant on Chromosome 15 in gene CHD2 (chromodomain helicase DNA binding protein 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | TTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATATCA... | TTTCATTTATTTTCAGTACTTAGGGACTGCTTTTCTCATTTAGATTCGATTTAATTTTTTTAATTATGTAAAAACATTTACATGGTTCAAAGTCACAACTATAAAACAAGGTACATTTGGAGCATCTTGTTTTCGTTTTTTGTTCCCCAGCTGCCTTCTCTTCCTCCTTAATAGGTCACTGTTTCTATTAGTTGTAAGTTTATCTTTGATTGTTTCTTTTAAAATTTAAGTGTGTGTGCGTGTGTATTTTCCTTCTTACACAGAAGAGAACATACTCTTTTGCACCTGCTTATTTTCATGACTGAGATAAATTCATATCA... |
Task1_train_21928 | Here is a mutation in CHD2 (chromodomain helicase DNA binding protein 2) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Developmental and epileptic encephalopathy 94 | CACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTA... | CACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTA... |
Task1_train_21929 | Chromosome 15 houses a mutation in gene CHD2 (chromodomain helicase DNA binding protein 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Developmental and epileptic encephalopathy 94 | ACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTAT... | ACATGTGTTAGATGTGAACTTAAGCTCATGTGTTTTCAGTAATAGTGTTGTGAAGATCAAGTTCATTTTTAAAACACTTGAGAGTTTTTTGACCTTCGCTAGTGGGATGGGTAGGAAAACAAAAAGAGAAACCTTCAGCACTAATATTATACCCTCAGAATCTACTTTTGTTCATTTGGAAACAAAGTAGTATAAAACAAGCAGGAAGATTAAAATACAACTATAAACATCAGTGAATTAAAAAAGAATTCCAAATCTTAAAAGACTGAATGTTCAGAGGTTATTTTACAGACATTAGTTGAGAAAAAAATTTGTCTTAT... |
Task1_train_21930 | This variant lies on Chromosome 15 and affects the gene CHD2 (chromodomain helicase DNA binding protein 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Self-limited epilepsy with centrotemporal spikes | CTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACTAATGCGTCAGCTCCATGAAGACAGAGATTTTATGTCTCTCATCTACTGCTGTGTTCTCAGCAC... | CTTCTTTTCTGGACCATCTATTTGGTGTCCTTCCAGCTTTTGTATGGAAGGGGTCCTGCTACTCACTTGTGAGAGGTGCTCAGAAGTTGCCTCTCCTTTGGAATAGGGGGATGGGTGCAGAAGTGACATGGAGGAGGCTGCAGAGGCAGTGCTCCTTGTGTGGGTGTGCCCATTTGCAGATCTGCTGACTTGCCACATGGGCTGTACCCAAGTTGGACATTGAGTTCAATCTGTGAGCATTAAATACCACCTCCACTAATGCGTCAGCTCCATGAAGACAGAGATTTTATGTCTCTCATCTACTGCTGTGTTCTCAGCAC... |
Task1_train_21931 | Mutation context: Chromosome 15, Gene NR2F2 (nuclear receptor subfamily 2 group F member 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Congenital heart defects, multiple types, 4 | CCGCCGCCCGGCGCCCCGCACACGCCACAGACGCCCGGCCAAGGGGGCCCAGCCAGCACGCCAGCCCAGACGGCGGCCGGTGGCCAGGGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCAACACATCGAGTGCGTGGTGTGCGGAGACAAGTCGAGCGGCAAGCACTACGGCCAGTTCACGTGCGAGGGCTGCAAGAGCTTCTTCAAGCGCAGCGTGCGGAGGAACCTGAGCTACACGTGCCGCGCCAACCGGAACTGTCCCATCGACCAGCACCATCGCAACCAGTGCCAGTACTGCCGCCTCAAAAA... | CCGCCGCCCGGCGCCCCGCACACGCCACAGACGCCCGGCCAAGGGGGCCCAGCCAGCACGCCAGCCCAGACGGCGGCCGGTGGCCAGGGCGGCCCTGGCGGCCCGGGTAGCGACAAGCAGCAGCAGCAGCAACACATCGAGTGCGTGGTGTGCGGAGACAAGTCGAGCGGCAAGCACTACGGCCAGTTCACGTGCGAGGGCTGCAAGAGCTTCTTCAAGCGCAGCGTGCGGAGGAACCTGAGCTACACGTGCCGCGCCAACCGGAACTGTCCCATCGACCAGCACCATCGCAACCAGTGCCAGTACTGCCGCCTCAAAAA... |
Task1_train_21932 | Here is a variant affecting NR2F2 (nuclear receptor subfamily 2 group F member 2) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | GAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCT... | GAGGCAAAATGATTTTTGAAGGTGTCTGGCTTTCCATTTTGGGCCACACCTGAGCTTTTTGGCTGCCTCCAGGCTGAGTTCAGCATAGCCCAGGTGGATGGAAATCACCAACCCCCTTTCACATTCTTGTACTAAGTTGTCAGCTGATCCTTTTGTCATGGCTGAGAGGGGAAAGGGGTTCCCGATTAAGAATAACAAACATCTGGACGTTAGCAGGGCTTGGAACCTAGTCACCCACTACAATTTTTTAAGCTTGTTAACAGGAAACGAGGAGAGATGTGTAGTTTATGTGGCAAACATAAAGGAGGTCCACAATCTCT... |
Task1_train_21933 | This is a variant in IGF1R (insulin like growth factor 1 receptor), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | CCACAAAGTGCAAGATCAAGGCGCTGGCAGATTTGGTGTCTGGTGAGGGCCCACTCCCTGGCTCATAGATGGCTGTCTTTTCATTGTGTCCTTGCATGGTGGCAGGGATGCGGGAGCACTCTCCGGGGCCTCTCATAGAAGGGCCTGGATTCCATTCATGAGGGCTTCACTCCCATGACCCAATCACCTCCCAAAGGCCATGCCTCCTAATTCCATCCCCTTAGGGGTTAGGATTTTGACATGTGAGTTTTGGTAGGGGACACAGGCATTCACTCTATAGCACTGATAAACATTCTTTGATAATAGCCATTATTTTAGTG... | CCACAAAGTGCAAGATCAAGGCGCTGGCAGATTTGGTGTCTGGTGAGGGCCCACTCCCTGGCTCATAGATGGCTGTCTTTTCATTGTGTCCTTGCATGGTGGCAGGGATGCGGGAGCACTCTCCGGGGCCTCTCATAGAAGGGCCTGGATTCCATTCATGAGGGCTTCACTCCCATGACCCAATCACCTCCCAAAGGCCATGCCTCCTAATTCCATCCCCTTAGGGGTTAGGATTTTGACATGTGAGTTTTGGTAGGGGACACAGGCATTCACTCTATAGCACTGATAAACATTCTTTGATAATAGCCATTATTTTAGTG... |
Task1_train_21934 | A mutation found in MEF2A (myocyte enhancer factor 2A) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Coronary artery disease/myocardial infarction | GTACAGACTACAAGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATG... | GTACAGACTACAAGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATG... |
Task1_train_21935 | Consider a variant on Chromosome 15 in gene MEF2A (myocyte enhancer factor 2A). Determine its clinical classification and disease relevance. | Pathogenic; Coronary artery disease/myocardial infarction | AGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAG... | AGCATGGTTTAATCAGGGATTTTACATCATTTGTTTGCTGTTCTCCTTTTTGTATCAGCTTTTTCCTCATTCTGGCCTTCTTCTGAGTCTCAAAATGACTTAATAAAATGCTGGCCGGACACGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTGGTAATACCACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAG... |
Task1_train_21936 | A genomic change on Chromosome 15 affects CERS3 (ceramide synthase 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Lamellar ichthyosis | CAGGTGCAAAAGTTGTGCCATGTCTGGGTTCAATTAGAACTTGATTGTGAAAACAAACCCTAAAACACACTATTCAAGTAAGCCATGGGCTGTGCACCCTGGGAGAACATCACAAATAGGCCCCTGCCACCACTTAATATTTTGTCTACCACCAGCTGATGGGAGGTACCAGCCTTGCTCATCGAACCTCACATCAGATCATGACTTGTGGATCAAGAATGATTCTCAATCATTAGCAATATGAAGCTGTTCTTAAAGTTTGCCCATGAGGGAACCTCTAAGATTGGACAGTTCATTTTTCTTCTTCTTCTTTTTTTTTT... | CAGGTGCAAAAGTTGTGCCATGTCTGGGTTCAATTAGAACTTGATTGTGAAAACAAACCCTAAAACACACTATTCAAGTAAGCCATGGGCTGTGCACCCTGGGAGAACATCACAAATAGGCCCCTGCCACCACTTAATATTTTGTCTACCACCAGCTGATGGGAGGTACCAGCCTTGCTCATCGAACCTCACATCAGATCATGACTTGTGGATCAAGAATGATTCTCAATCATTAGCAATATGAAGCTGTTCTTAAAGTTTGCCCATGAGGGAACCTCTAAGATTGGACAGTTCATTTTTCTTCTTCTTCTTTTTTTTTT... |
Task1_train_21937 | A variant was discovered on Chromosome 15, affecting CERS3 (ceramide synthase 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 9 | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATC... | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATC... |
Task1_train_21938 | The gene CERS3 (ceramide synthase 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATC... | GCTTGCTTTCTGTATTCCCAAGAGACATTTGTGTACTCTCTTCTGCCATCAGGAGTCTTTCGCTGTGAAAGTCTAAGAATTACTGAAACAGTCAGAAAATAAAAAACCAACAACCCTAAACCTGAGCTCATGGGTTCGAGTCCCAGATCCATCCCCTTACATGTTAACTGTGTGACCTTGGCCAGGTCATTTACCTCTCATTTCCACACCTGCAGACTGAGACCACACCATTTGTGATTTTATGTAGCTCTTAAACTATAAACTCCTATTCAAATATAAGGTATAAGTGATATTTTATTTATGATATAAGTGGTTCAATC... |
Task1_train_21939 | This variant affects gene ALDH1A3 (aldehyde dehydrogenase 1 family member A3) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | CAGAATGGCATCAATTACCGATGATCCTCTGCAGAGAATCATTCTCCCTTGATAGATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAG... | CAGAATGGCATCAATTACCGATGATCCTCTGCAGAGAATCATTCTCCCTTGATAGATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAG... |
Task1_train_21940 | A mutation on Chromosome 15 affecting ALDH1A3 (aldehyde dehydrogenase 1 family member A3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Isolated microphthalmia 8 | GATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCAC... | GATGTTTCTCCTACTATGAGGATGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCAC... |
Task1_train_21941 | A change on Chromosome 15 affects gene ALDH1A3 (aldehyde dehydrogenase 1 family member A3). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Isolated anophthalmia-microphthalmia syndrome | TGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCT... | TGACCTCAGCTATCCTCATCATATGGCTAAAGGAAAGGTTTTCTTTTTTCTTTTTTTTTTTTTTTTATCAATTATTTGGACCTGGAGGCATTAAAGAATCTTTCCAGAAAGCATTTCCCGCTGGTGTGTTTCACGAAATGAAGCTTTCTGGCAGAAGACACTTTAGAAAAAAATAGACACTTTGAAGGAAAAAAAATAGTTGCTACCCGGGTGATGCGGGGATAGTTAACAATGTAACCACCAGATTTCTTTTCTCCTAGAAATTTACATGAGCATGGAAAGCGGTAACCTTTATCACTCTATTTGCAAGTGCAAGGTCT... |
Task1_train_21942 | This gene mutation involves ALDH1A3, ALDH1A3-AS1 (aldehyde dehydrogenase 1 family member A3| ALDH1A3 antisense RNA 1) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Isolated anophthalmia-microphthalmia syndrome | CTCCAAAGCCCCTGTGCTCTGTCGCAGTGGAACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACCATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATCAAAGAGGTGAGACATCCAAAAAGAAAATATCACATGTTCTTGGTAACATTCCCACTCCTAGGAACCAGGCCACCGTCACGAGATGGGACAGTGGCAGACTGCTGGCAATCGAGTGGGAAGGGAATGACTTCCAGTGTTTTGTTTGGCGACTGCACGTTCTTTCTCCTGCT... | CTCCAAAGCCCCTGTGCTCTGTCGCAGTGGAACTTCCCCCTGCTGATGCTGGTGTGGAAGCTGGCACCCGCCCTCTGCTGTGGGAACACCATGGTCCTGAAGCCTGCGGAGCAGACACCTCTCACCGCCCTTTATCTCGGCTCTCTGATCAAAGAGGTGAGACATCCAAAAAGAAAATATCACATGTTCTTGGTAACATTCCCACTCCTAGGAACCAGGCCACCGTCACGAGATGGGACAGTGGCAGACTGCTGGCAATCGAGTGGGAAGGGAATGACTTCCAGTGTTTTGTTTGGCGACTGCACGTTCTTTCTCCTGCT... |
Task1_train_21943 | A variant found in Chromosome 15 affects ALDH1A3, ALDH1A3-AS1 (aldehyde dehydrogenase 1 family member A3| ALDH1A3 antisense RNA 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Isolated microphthalmia 8 | TTCATTTTCTGCCTAACACATAGTAGGGGCTCTACATGATTATCTGTAATTGTTATAATTACAAGGAGGTGATGGTTTTCCTATTTGATAGTTGATGAAGTTGAGGCTCAGGGAAGGCAAAGAACTTACCTAAGCAACATAGTTCTAAGCCAGTGGTTCTCCAACTTGAGTATGCATCAGAATCACTTGGAGGACTTGTTAAAATACAGATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC... | TTCATTTTCTGCCTAACACATAGTAGGGGCTCTACATGATTATCTGTAATTGTTATAATTACAAGGAGGTGATGGTTTTCCTATTTGATAGTTGATGAAGTTGAGGCTCAGGGAAGGCAAAGAACTTACCTAAGCAACATAGTTCTAAGCCAGTGGTTCTCCAACTTGAGTATGCATCAGAATCACTTGGAGGACTTGTTAAAATACAGATGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC... |
Task1_train_21944 | The gene CHSY1 (chondroitin sulfate synthase 1) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Temtamy preaxial brachydactyly syndrome | TGCAAATAAAACAGACTAAACACACTCCCGATACACATAAATAATACTAACTAACAGGTACTCAAGAAATGGCAGAGCTCTGAACAACAGATATTAAATAAATTAAAGGTATTTCAGATACAAAGGATAAAACAAAACAGTAATGAAAGAATGAAAACCATCTCCACCCACATAACACAGACAGGATGAAAGGAACAAAACCAAATACATTTTTCCCCAACGTTTTGATTAGGGTGTATGTGTGTATGTTTCAGTCTGTGTACATCAGATTTATTGTAATAATTCATCTTTGTCATTCTAAACATTAATATTTTACCCTT... | TGCAAATAAAACAGACTAAACACACTCCCGATACACATAAATAATACTAACTAACAGGTACTCAAGAAATGGCAGAGCTCTGAACAACAGATATTAAATAAATTAAAGGTATTTCAGATACAAAGGATAAAACAAAACAGTAATGAAAGAATGAAAACCATCTCCACCCACATAACACAGACAGGATGAAAGGAACAAAACCAAATACATTTTTCCCCAACGTTTTGATTAGGGTGTATGTGTGTATGTTTCAGTCTGTGTACATCAGATTTATTGTAATAATTCATCTTTGTCATTCTAAACATTAATATTTTACCCTT... |
Task1_train_21945 | Here is a mutation in POLR3K (RNA polymerase III subunit K) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Leukodystrophy, hypomyelinating, 21 | GCCTCCTGAGTAGCTAGGACTACAGGCACGCGCCACTGAGCCTGGCTAATTTGTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCCTGTTGCCTGGGCTAGAGTGCAATAGCACGATCTCAGCTCACTACAACCTCCGCCTCACAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGCACCACCACGCTCAGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATGTCTTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAATGCTGG... | GCCTCCTGAGTAGCTAGGACTACAGGCACGCGCCACTGAGCCTGGCTAATTTGTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCCTGTTGCCTGGGCTAGAGTGCAATAGCACGATCTCAGCTCACTACAACCTCCGCCTCACAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCAGGCACCACCACGCTCAGCTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATGTCTTGACCTCGTGATCCGCCCACATTGGCCTCCCAAAATGCTGG... |
Task1_train_21946 | A genetic alteration is present in HBA-LCR, NPRL3 (alpha-globin locus control region| NPR3 like, GATOR1 complex subunit) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epilepsy, familial focal, with variable foci 3 | CAGGGAAGTGAAGGGGACATCAAAAGGAGACCAAAGCTTTGTCCAAGGAGACTCTGAGAGCAAGGGTGAGAGGCACACTGTCCACACAAACTCCTGCCAGACAACCTCAGAAGAGGGCATCAAAGCTTTGTCCAAGGAGACTCTGACAGCAAGGATGAGAGGCACAGTGTCCAGCACAAACTCCTGCCAGACAGCCTCAGGAAAGCCAGGCCCAGCTCCTTTCAAAAGCTCAACACAGGACCAGTGAACAGCCACAGGCATTTACCATGTGGTCGGTGCTCATCAGGACACGGAGGGTCACTGCCTCCCTCACTCTGCAG... | CAGGGAAGTGAAGGGGACATCAAAAGGAGACCAAAGCTTTGTCCAAGGAGACTCTGAGAGCAAGGGTGAGAGGCACACTGTCCACACAAACTCCTGCCAGACAACCTCAGAAGAGGGCATCAAAGCTTTGTCCAAGGAGACTCTGACAGCAAGGATGAGAGGCACAGTGTCCAGCACAAACTCCTGCCAGACAGCCTCAGGAAAGCCAGGCCCAGCTCCTTTCAAAAGCTCAACACAGGACCAGTGAACAGCCACAGGCATTTACCATGTGGTCGGTGCTCATCAGGACACGGAGGGTCACTGCCTCCCTCACTCTGCAG... |
Task1_train_21947 | Here is a genetic alteration in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Heinz body anemia | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... |
Task1_train_21948 | This genomic variant is located on Chromosome 16, within the HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Erythrocytosis, familial, 7 | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... |
Task1_train_21949 | Here is a genetic alteration in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hemoglobin H disease | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... |
Task1_train_21950 | This alteration occurs within gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; alpha Thalassemia | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... | TTTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAA... |
Task1_train_21951 | This variant affects the gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | TTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAAT... | TTTTTGTGTTACTTAAAGTAGGAGAGTGTCTCTCTTTCCTGTCTCCTCACACCCACCCCCAGAAGAGACCAAAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAAT... |
Task1_train_21952 | This variant affects gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTC... | AAATGAAGGGTTTGGAACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTC... |
Task1_train_21953 | With a mutation on Chromosome 16 in gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; alpha Thalassemia | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC... | ACTCAGCCCATGGGCCCCATCCCATGCTGAGGGAACACAGCTACATCTACAACTACTGCCACAGGCTCTCTTTTTGGACAAAAATACCATCATACTGTAGATACCTGTGTACAACTTCCTATTCTCAGTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGC... |
Task1_train_21954 | A variant was discovered in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; HBA2-related disorder | GTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTC... | GTGAAGTGTCTCCCCTGCATCCCTTTCAGCCAGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTC... |
Task1_train_21955 | This alteration occurs within gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Thalassemia | AGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCAT... | AGTTCATTCAGCTCTGCGCCATTCCACAGTCTCACTGATTATTACTATGTTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCAT... |
Task1_train_21956 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; alpha Thalassemia | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCC... | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCC... |
Task1_train_21957 | A sequence alteration has been identified in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Non-immune hydrops fetalis | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCC... | TTTCCATCATGATCCCCCCAAAAAATCATGACTTTATTTTTTTATTTTTATTATTATTATTTTTTTTTTTTTTTTTGTGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCC... |
Task1_train_21958 | This sequence change occurs on Chromosome 16, altering HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGC... | CTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCACCTCGCAGGTTCACGCCATTCTCCTCCCTCAGCCTCCCGAGTAGCTGAGTAGCTGGGACTACAGGCGCCCCCCACTACGCCTGGCTAATTTTTTCTATTTTTAATAGAGACAGAGTTTCACTGCATTAGCGAGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGC... |
Task1_train_21959 | The following genetic variant occurs in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hemoglobin H disease | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... |
Task1_train_21960 | Here is a mutation in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Heinz body anemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... |
Task1_train_21961 | This genomic variant is located on Chromosome 16, within the LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; alpha Thalassemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... |
Task1_train_21962 | The gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Erythrocytosis, familial, 7 | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... |
Task1_train_21963 | This is a variant in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; alpha Thalassemia | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... | AGGATGGTCTCGATCTCCTGACCTCGCATCTGCCCGCCTCAGCCTCCCAATGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCT... |
Task1_train_21964 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21965 | This mutation occurs in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hemoglobin H disease | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21966 | Gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21967 | A genomic change on Chromosome 16 affects HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Heinz body anemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21968 | This variant impacts the gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is the change likely to result in a pathogenic outcome? | Pathogenic; Erythrocytosis, familial, 7 | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21969 | With a mutation on Chromosome 16 in gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Heinz body anemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21970 | This sequence change occurs on Chromosome 16, altering LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Erythrocytosis, familial, 7 | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21971 | This alteration occurs within gene LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant? | Pathogenic; Hemoglobin H disease | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21972 | A genetic alteration is present in LOC106804612, HBA2 (hemoglobin subunit alpha 2 recombination region| hemoglobin subunit alpha 2) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; alpha Thalassemia | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... | AGGCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTG... |
Task1_train_21973 | This mutation is located in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Heinz body anemia | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21974 | Consider a variant on Chromosome 16 in gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Determine its clinical classification and disease relevance. | Pathogenic; Erythrocytosis, familial, 7 | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21975 | A change on Chromosome 16 affects gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hemoglobin H disease | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21976 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; alpha Thalassemia | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21977 | A mutation found in HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not specified | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21978 | The gene HBA2, LOC106804612 (hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... | GCGTGAGCCACCGCGCCCGGCCTTATGTATTTATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGC... |
Task1_train_21979 | This variant affects gene HBA1, HBA2, LOC106804612 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Anemia | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCA... | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCA... |
Task1_train_21980 | A variant found in Chromosome 16 affects HBA1, HBA2, LOC106804612 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 2| hemoglobin subunit alpha 2 recombination region). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Splenomegaly | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCA... | TATTTTTTTGAGACAGAGTCTCGCTGTGTCGTCAGGCTAGAGTGCTGTGGCACGATCTCGGCTCACTGCAACCTCCAACTCCCTGGTTCAAAGGATTCTCCAGCCTCCACCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGCCTGGTCTCGAACTCCCGACCTCAGCTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGAGCCTGGCCAAACCATCACTTTTCATGAGCAGGGATGCA... |
Task1_train_21981 | This is a variant in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Heinz body anemia | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... |
Task1_train_21982 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hemoglobin H disease | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... |
Task1_train_21983 | Gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Methemoglobinemia, alpha type | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... |
Task1_train_21984 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; alpha Thalassemia | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... |
Task1_train_21985 | This is a variant in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16. Is this mutation a likely cause of disease or not? | Pathogenic; Erythrocytosis, familial, 7 | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... | CCCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGA... |
Task1_train_21986 | This mutation occurs in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; alpha Thalassemia | CCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGAT... | CCTCTCCACCACCCGCTCTTCCTGCGCCTCACAGCCCAGAGCATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGAT... |
Task1_train_21987 | A variant affecting Chromosome 16, within the gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; alpha Thalassemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21988 | A variant affecting Chromosome 16, within the gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Methemoglobinemia, alpha type | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21989 | The variant affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Erythrocytosis, familial, 7 | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21990 | A change on Chromosome 16 affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Heinz body anemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21991 | A variant has been detected on Chromosome 16 in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hemoglobin H disease | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21992 | Given a variant located on Chromosome 16 and affecting HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; alpha Thalassemia | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... | CATTGTTATTTCAGCAGAAACACTTTAAAAAATAAACTAAAATCCGACAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACCTGAGGTCGGGAGTTTGAGACCACCCTGATCAACATGTAGAAACCCCATCTATACTAAAAATACAAAATCAGCCGGGCATGGTGGCCCATGCCTGTAAACCCACCTACTCCGGAGGCTGAGGCAGGAGAATCATTTTAACCAAGGAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTC... |
Task1_train_21993 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; alpha Thalassemia | GAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACC... | GAGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACC... |
Task1_train_21994 | This sequence change occurs on Chromosome 16, altering HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; alpha Thalassemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
Task1_train_21995 | A mutation in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Heinz body anemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
Task1_train_21996 | Given this variant in gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Methemoglobinemia, alpha type | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
Task1_train_21997 | The gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Erythrocytosis, familial, 7 | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
Task1_train_21998 | An alteration has been detected in HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hemoglobin H disease | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
Task1_train_21999 | A change on Chromosome 16 affects gene HBA1, LOC106804613 (hemoglobin subunit alpha 1| hemoglobin subunit alpha 1 recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; alpha Thalassemia | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... | AGGCAGAGGTTGCAGTGAGCTAAGATCACACCATTGCACTCCAGCCTGGAAAACAACAGCGAAACTCCGCCTCAAAAAAAAAAAAGCCCCCACATCTTATCTTTTTTTTTTCCTTCAGGCTGTGGGCAGAGTCAGAAGAGGGTGGCAGACAGGGAGGGGAAATGAGAAGATCCAACGGGGGAAGCATTGCTAAGCTGGTCGGAGCTACTTCCTTCTCTGCCCAAGGCAGCTTACCCTGGCTTGCTCCTGGACACCCAGGGCAGGGCCTGAGTAAGGGCCTGGGGAGACAGGGCAGGGAGCAGGCTGAAGGGTGCTGACCT... |
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