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_100 | The gene PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Immunodeficiency 14 | CGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCC... | CGGTGTCCAGCTCGGAGGTGAGCGTGTGCTCGGAGCCCGTGTGGAAGCAGCGGCTGGAGTTCGACATCAACATCTGCGACCTGCCCCGCATGGCCCGTCTCTGCTTTGCGCTGTACGCCGTGATCGAGAAAGCCAAGAAGGCTCGCTCCACCAAGAAGAAGTCCAAGAAGGCGGTGGGTCCCAGGGCCGGCTGGGAGGGGTGCAGACCCCGGAGAGCCAGTACAGCCCCTTGCTGGGCCACTCACCACTCTCCTCCCGGCAAGCACGCAGCCTGGGGATGGGGGTCCTGGGATTGCTTGTGGACCCCAGCCTCCTCACCC... |
Task1_train_101 | Here is a genetic alteration in PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Immunodeficiency 14 | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_102 | A genomic change on Chromosome 1 affects PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_103 | This alteration in PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Inherited Immunodeficiency Diseases | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_104 | Consider this mutation in PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Immunodeficiency 14b, autosomal recessive | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_105 | Here is a mutation in PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Combined immunodeficiency with faciooculoskeletal anomalies | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_106 | Located on Chromosome 1, this mutation impacts PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Immunodeficiency 14 | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... | CCAGTATCTCAAGGTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGC... |
Task1_train_107 | A change on Chromosome 1 affects gene PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Immunodeficiency 14 | GTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGCTCCCTCTGCCTTC... | GTATGTGCCGGGCAGGAGACTGCTGTCGCCAGTGGACTTCCAAGGCCTGCCCCCGAGCAATGTGACCTAGGAGGGCCCTGAATGCAGTAGGCCCCAAAGGGCACTGAGCTGTGTGTGCCTCATGCCGTCCCAGGACCCAGCAGTGGAGCTGGTGGGCGGTGGAGGGGAAAGTGGCTGGACCAGAGTTGAGCCGCCCAGGCATGGTTCCACTCAGTGGCAGATGTGTAGTGACCTCTCCTGGTTGGGGTGCTGTGCTCAGGGCTGCGGGGCTTTCAGGTGTCCACTAGGGGGCCGCGTGAGCGCTGGCTCCCTCTGCCTTC... |
Task1_train_108 | Gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Leber congenital amaurosis 9 | GGCTTTGGATTTCATGCTATTAACATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCAT... | GGCTTTGGATTTCATGCTATTAACATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCAT... |
Task1_train_109 | This gene mutation involves NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Leber congenital amaurosis 9 | ATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCATTAAGGGCCTTTTTTACCCTGTGAT... | ATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCATTAAGGGCCTTTTTTACCCTGTGAT... |
Task1_train_110 | This alteration occurs within gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Retinal dystrophy | ATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCATTAAGGGCCTTTTTTACCCTGTGAT... | ATTGGAATCTAGAAGTAATGCCTTTGAAGTTGTGAGAGAAGATGATTTTCAACATAGTCTGGAGATAAACTATATTGGGCAGTTTGGGAGAAGGTAGTCAAAGGGTATGAGGGCTAATCTTTATAGATCATAAAGTCAATGGGCACTGTTATAGTTGGATAAATTAAGAAATGGCATTATAAGCACATAATGTAGAGTTATGGTAGAAACTACCAGAAGAAATAGCTGAAAAAGTTAAAAGTGGTTGGATGGAAGGGATGATGAGTGGAATATGATTGATGGCTGTTGGTTTTCATTAAGGGCCTTTTTTACCCTGTGAT... |
Task1_train_111 | A variant found in Chromosome 1 affects NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Leber congenital amaurosis 9 | CGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGTCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGAT... | CGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATGTCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGAT... |
Task1_train_112 | A change on Chromosome 1 affects gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis 9 | GGGAGGCGGAGCTTGCAGTGAGCCAAGATGTCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTTTGCC... | GGGAGGCGGAGCTTGCAGTGAGCCAAGATGTCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTTTGCC... |
Task1_train_113 | Here is a genetic alteration in NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | ACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTTTGCCTCAGCCTCCCCTGTAACTGGGATTACAGGCACACAGCACC... | ACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAATGCATGAATAGGCTGGGCGTGGTGGCACATACCTGTAATCCCAGCACTTCGAGAGGCAGAAGGGGCAGATTACCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAATGTGGCGAAACCTTGACTCTACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTTTGCCTCAGCCTCCCCTGTAACTGGGATTACAGGCACACAGCACC... |
Task1_train_114 | This sequence change occurs on Chromosome 1, altering NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leber congenital amaurosis 9 | CATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACT... | CATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACT... |
Task1_train_115 | Chromosome 1 houses a mutation in gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Retinal dystrophy | AACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAG... | AACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAG... |
Task1_train_116 | This variant lies on Chromosome 1 and affects the gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Leber congenital amaurosis 9 | AACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAG... | AACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAG... |
Task1_train_117 | The gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Leber congenital amaurosis | AACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGA... | AACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGA... |
Task1_train_118 | This variant affects gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Retinal dystrophy | CTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTA... | CTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTA... |
Task1_train_119 | Gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Leber congenital amaurosis 9 | CTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTA... | CTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTA... |
Task1_train_120 | This genomic variant is located on Chromosome 1, within the NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis 9 | TGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAG... | TGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAG... |
Task1_train_121 | Located on Chromosome 1, this mutation impacts NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Leber congenital amaurosis 9 | AAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG... | AAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG... |
Task1_train_122 | This genomic variant is located on Chromosome 1, within the NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinal dystrophy | AAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG... | AAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG... |
Task1_train_123 | Mutation context: Chromosome 1, Gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis 9 | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_124 | A variant affecting Chromosome 1, within the gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Leber congenital amaurosis 9 | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_125 | Given a variant located on Chromosome 1 and affecting NMNAT1 (nicotinamide nucleotide adenylyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_126 | This alteration occurs within gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Leber congenital amaurosis | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_127 | The gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Retinal dystrophy | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_128 | A genetic alteration is present in NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Inborn genetic diseases | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... | ACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCC... |
Task1_train_129 | A variant on Chromosome 1 in gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Leber congenital amaurosis 9 | AATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGC... | AATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGC... |
Task1_train_130 | A sequence alteration has been identified in KIF1B (kinesin family member 1B) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Charcot-Marie-Tooth disease type 2A1 | CATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCA... | CATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCA... |
Task1_train_131 | This variant lies on Chromosome 1 and affects the gene TARDBP (TAR DNA binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 10 | TTTTTAAAGAAGTGCTAAGTGAAGATTTCTAAAAGGTTTCTGCTCGTTTTATTTAGATAACAAAAGAAAAATGGATGAGACAGATGCTTCATCAGCAGTGAAAGTGAAAAGAGCAGTCCAGAAAACATCCGATTTAATAGTGTTGGGTCTCCCATGGAAAACAACCGAACAGGACCTGAAAGAGTATTTTAGTACCTTTGGAGAAGTTCTTATGGTGCAGGTAAACTTCGATTGCATCAAACAGTTTTTCTTTACCAGTGAATGAGTATCTAGCATTTATTTATTGGTATAAATAGAGATGGGGTATCACTATGTTCCCT... | TTTTTAAAGAAGTGCTAAGTGAAGATTTCTAAAAGGTTTCTGCTCGTTTTATTTAGATAACAAAAGAAAAATGGATGAGACAGATGCTTCATCAGCAGTGAAAGTGAAAAGAGCAGTCCAGAAAACATCCGATTTAATAGTGTTGGGTCTCCCATGGAAAACAACCGAACAGGACCTGAAAGAGTATTTTAGTACCTTTGGAGAAGTTCTTATGGTGCAGGTAAACTTCGATTGCATCAAACAGTTTTTCTTTACCAGTGAATGAGTATCTAGCATTTATTTATTGGTATAAATAGAGATGGGGTATCACTATGTTCCCT... |
Task1_train_132 | A variant has been detected on Chromosome 1 in TARDBP (TAR DNA binding protein). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED | CCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTT... | CCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTT... |
Task1_train_133 | Given a variant located on Chromosome 1 and affecting MASP2, TARDBP (MBL associated serine protease 2| TAR DNA binding protein), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Amyotrophic lateral sclerosis type 10 | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... |
Task1_train_134 | The gene MASP2, TARDBP (MBL associated serine protease 2| TAR DNA binding protein), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; TARDBP-related frontotemporal dementia | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... |
Task1_train_135 | Given this context: Chromosome 1, gene MASP2, TARDBP (MBL associated serine protease 2| TAR DNA binding protein) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Amyotrophic lateral sclerosis type 10 | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... | AAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCAT... |
Task1_train_136 | With a mutation on Chromosome 1 in gene TARDBP (TAR DNA binding protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; TARDBP-related frontotemporal dementia | ACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTC... | ACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTC... |
Task1_train_137 | A variant on Chromosome 1 in gene TARDBP (TAR DNA binding protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Amyotrophic lateral sclerosis type 10 | ACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTC... | ACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTC... |
Task1_train_138 | A mutation on Chromosome 1 affecting TARDBP (TAR DNA binding protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; TARDBP-related frontotemporal dementia | TTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTT... | TTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTT... |
Task1_train_139 | A variant found in Chromosome 1 affects TARDBP (TAR DNA binding protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Amyotrophic lateral sclerosis type 10 | TTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTT... | TTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTT... |
Task1_train_140 | A change on Chromosome 1 affects gene TARDBP (TAR DNA binding protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; TARDBP-related frontotemporal dementia | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... |
Task1_train_141 | Here is a variant affecting TARDBP (TAR DNA binding protein) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Amyotrophic lateral sclerosis type 10 | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... |
Task1_train_142 | This variant lies on Chromosome 1 and affects the gene TARDBP (TAR DNA binding protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Amyotrophic lateral sclerosis type 10 | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... | ACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGT... |
Task1_train_143 | Gene TARDBP (TAR DNA binding protein) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Amyotrophic lateral sclerosis type 10 | TATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGG... | TATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGG... |
Task1_train_144 | Located on Chromosome 1, this mutation impacts TARDBP (TAR DNA binding protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; TARDBP-related frontotemporal dementia | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... |
Task1_train_145 | The gene TARDBP (TAR DNA binding protein), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Amyotrophic lateral sclerosis type 10 | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... |
Task1_train_146 | This sequence change occurs on Chromosome 1, altering TARDBP (TAR DNA binding protein). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Amyotrophic lateral sclerosis type 10 | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... | GTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCAC... |
Task1_train_147 | This variant affects gene TARDBP (TAR DNA binding protein) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Amyotrophic lateral sclerosis type 10 | ACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGAC... | ACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGAC... |
Task1_train_148 | An alteration has been detected in TARDBP (TAR DNA binding protein) on Chromosome 1. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Amyotrophic lateral sclerosis type 10 | TCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTG... | TCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTG... |
Task1_train_149 | This variant affects gene TARDBP (TAR DNA binding protein) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; TARDBP-related frontotemporal dementia | TCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTG... | TCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTG... |
Task1_train_150 | A mutation on Chromosome 1 affecting TARDBP (TAR DNA binding protein) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Motor neuron disease | TTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACAT... | TTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACAT... |
Task1_train_151 | Consider this mutation in TARDBP (TAR DNA binding protein) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Amyotrophic lateral sclerosis type 10 | GGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGA... | GGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGA... |
Task1_train_152 | A sequence alteration has been identified in TARDBP (TAR DNA binding protein) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; TARDBP-related frontotemporal dementia | GGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGA... | GGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGA... |
Task1_train_153 | This mutation is located in gene MTOR (mechanistic target of rapamycin kinase) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; CEBALID syndrome | GAACCAAATCAAGCCTTGTGTTTCTGACAATATATTCTTCAACAGCAGCTAGAAAGTTGGTTCAAACCAACTTTTAATATACAGTAGTTCTTTTCATTTACATTTCAAAATATTTAACAAAGTCAAACTTTCTCACCATGGTTTCAGTTTAGTGGAAGCATTTACTAAAGTACAAAAGCCTCAGAAAAAACGTGATGGGCACATCTGGGCCTCCAGTTACCAGAAAGGGCACCTAAGAAGGCAGAAAGAAAAGGAATATTTTAATAATTTGAGCTTCTTCAAAGGTTTACACAGATAACTTGAAAATGAAAAGGCCAAGG... | GAACCAAATCAAGCCTTGTGTTTCTGACAATATATTCTTCAACAGCAGCTAGAAAGTTGGTTCAAACCAACTTTTAATATACAGTAGTTCTTTTCATTTACATTTCAAAATATTTAACAAAGTCAAACTTTCTCACCATGGTTTCAGTTTAGTGGAAGCATTTACTAAAGTACAAAAGCCTCAGAAAAAACGTGATGGGCACATCTGGGCCTCCAGTTACCAGAAAGGGCACCTAAGAAGGCAGAAAGAAAAGGAATATTTTAATAATTTGAGCTTCTTCAAAGGTTTACACAGATAACTTGAAAATGAAAAGGCCAAGG... |
Task1_train_154 | Mutation context: Chromosome 1, Gene MTOR (mechanistic target of rapamycin kinase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | CCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTC... | CCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTC... |
Task1_train_155 | This sequence variant lies in MTOR (mechanistic target of rapamycin kinase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Isolated focal cortical dysplasia type II | CCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTC... | CCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTC... |
Task1_train_156 | Assess the clinical impact of this variant on gene MTOR (mechanistic target of rapamycin kinase), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... |
Task1_train_157 | With a mutation on Chromosome 1 in gene MTOR (mechanistic target of rapamycin kinase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; CEBALID syndrome | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... |
Task1_train_158 | The gene MTOR (mechanistic target of rapamycin kinase) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... |
Task1_train_159 | This variant affects gene MTOR (mechanistic target of rapamycin kinase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... | TTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCC... |
Task1_train_160 | A genomic change on Chromosome 1 affects MTOR (mechanistic target of rapamycin kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Inborn genetic diseases | CTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCT... | CTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCT... |
Task1_train_161 | This variant affects gene MTOR (mechanistic target of rapamycin kinase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | CTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCT... | CTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCT... |
Task1_train_162 | A variant affecting Chromosome 1, within the gene MTOR (mechanistic target of rapamycin kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | AAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGC... | AAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGC... |
Task1_train_163 | A variant affecting Chromosome 1, within the gene MTOR (mechanistic target of rapamycin kinase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | TTATAGCAGGGAAAGGAAGCAGCTTGGGTTTAGTGAGAGGACTTGTCACAGGGATTTGAAAGACAACTTAAAAAAAAAAAGAAACGAACAACAGAAAAGAAGAGAAAACAAAAAGGAAAAAAGACAAATGTGCATCGTGTCCAGGCTCTTGGGCAACAGGTGGTATGGAGGGTAGGGGCCTACTCTACTCAGAGGGCATGGGAACAGCAGCCCTTGCTCCAAGGGGGTTAGAGTCCAACTAAGAGCCCAGATTTCATTTCTTAGACTGACTTAACTACAGCCTTGGTAGGGCCAGCAGGGGTTAAGAGTAAGGCAGTTTG... | TTATAGCAGGGAAAGGAAGCAGCTTGGGTTTAGTGAGAGGACTTGTCACAGGGATTTGAAAGACAACTTAAAAAAAAAAAGAAACGAACAACAGAAAAGAAGAGAAAACAAAAAGGAAAAAAGACAAATGTGCATCGTGTCCAGGCTCTTGGGCAACAGGTGGTATGGAGGGTAGGGGCCTACTCTACTCAGAGGGCATGGGAACAGCAGCCCTTGCTCCAAGGGGGTTAGAGTCCAACTAAGAGCCCAGATTTCATTTCTTAGACTGACTTAACTACAGCCTTGGTAGGGCCAGCAGGGGTTAAGAGTAAGGCAGTTTG... |
Task1_train_164 | A variant has been detected on Chromosome 1 in MTOR (mechanistic target of rapamycin kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | TGGATTGCAGGCCTAAGCCACTGCACCCAGCCCTATTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGTCACTATTTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCACGCGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGATGCACAACACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG... | TGGATTGCAGGCCTAAGCCACTGCACCCAGCCCTATTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGTCACTATTTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCACGCGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGATGCACAACACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG... |
Task1_train_165 | A genomic change on Chromosome 1 affects MTOR (mechanistic target of rapamycin kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | TGGATTGCAGGCCTAAGCCACTGCACCCAGCCCTATTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGTCACTATTTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCACGCGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGATGCACAACACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG... | TGGATTGCAGGCCTAAGCCACTGCACCCAGCCCTATTTTTTTTTTTTTTTTTTTTTTTTAGATGGAGTCTTGTTCTGTTGCCCAGGCTGGAATGCAGTGTCACTATTTTGGTTCACTGCAACCTCTGCCTCCTGGGTTCACGCGATTCTCCTGCGTCAGCCTCCCGAGTAGCTGGGATTACAGATGCACAACACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGACTGGTCTCGAACTCCTGACCTCGTGATCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG... |
Task1_train_166 | This sequence change occurs on Chromosome 1, altering MTOR (mechanistic target of rapamycin kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; CEBALID syndrome | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_167 | The gene MTOR (mechanistic target of rapamycin kinase), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Isolated focal cortical dysplasia type II | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_168 | A variant has been detected on Chromosome 1 in MTOR (mechanistic target of rapamycin kinase). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; MTOR-related disorder | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_169 | A mutation in MTOR (mechanistic target of rapamycin kinase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; MTOR-related megalencephaly and pigmentary mosaicism in skin | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_170 | A genetic alteration is present in MTOR (mechanistic target of rapamycin kinase) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_171 | A variant on Chromosome 1 in gene MTOR (mechanistic target of rapamycin kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... | AAAAAAAAGCGAGAGGCCTCAAAGTGCCACCACAGCACTCAGGCCTCACTAAAACATCCCCCATAAGTAACACTCTACCCCAAGGGAAATTCCAGAGCCCACTTGCTTAACAAATCTCACTGTGAGAATCCACTTGTTCATTTTACACAATCATTTACCACAGAGACTATGATGGTAAAAAAAAAAAGAAAAAAATTTCAAGAGCCAGAAGCCCCCGTTTCAGAGGAGCTAGCACCTTCCCTGCTTGCACCCAGCTGCCTCCTCCCTGGCCTCATCAGTCTCCAACACCTGCCTTCCACTGTTACTTCTCTGCCTTGCAT... |
Task1_train_172 | A variant was discovered in gene MTOR (mechanistic target of rapamycin kinase), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Isolated focal cortical dysplasia type II | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_173 | Gene MTOR (mechanistic target of rapamycin kinase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_174 | Chromosome 1 houses a mutation in gene MTOR (mechanistic target of rapamycin kinase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; CEBALID syndrome | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_175 | The variant affects gene MTOR (mechanistic target of rapamycin kinase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Inborn genetic diseases | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_176 | A genomic change on Chromosome 1 affects MTOR (mechanistic target of rapamycin kinase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Intellectual disability | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_177 | This sequence change occurs on Chromosome 1, altering MTOR (mechanistic target of rapamycin kinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_178 | Given this variant in gene MTOR (mechanistic target of rapamycin kinase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Isolated focal cortical dysplasia type II | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... | AGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCT... |
Task1_train_179 | This sequence variant lies in MTOR, MTOR-AS1 (mechanistic target of rapamycin kinase| MTOR antisense RNA 1) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | CCCATGGAGCTGTCCTCCATGGAGATAAACTTAAAAGTCTAGCGACAATGATCTCAGGCTTTTAGCTATGATAAGATGCAGTCTGAGCCTGACTGGAGAACCCAAGGCTAGAAGAGACCCAGCGCCAGTAAGGCTGACCTCTCTAACTGCCCTATGGGAGGGTCTTAGGAACCAAAAGCATTGGTGCAACTCCAAAGAAAAGTAACAAACATGTATTTTTCCACTACTATAATACTGGTTGGGGATTTTAATTTAAATGATTTGACCACAAAATGGCAGTTTTCTAGCCCCAGCAGTTCATTTGACAGCAAGCCATCCAC... | CCCATGGAGCTGTCCTCCATGGAGATAAACTTAAAAGTCTAGCGACAATGATCTCAGGCTTTTAGCTATGATAAGATGCAGTCTGAGCCTGACTGGAGAACCCAAGGCTAGAAGAGACCCAGCGCCAGTAAGGCTGACCTCTCTAACTGCCCTATGGGAGGGTCTTAGGAACCAAAAGCATTGGTGCAACTCCAAAGAAAAGTAACAAACATGTATTTTTCCACTACTATAATACTGGTTGGGGATTTTAATTTAAATGATTTGACCACAAAATGGCAGTTTTCTAGCCCCAGCAGTTCATTTGACAGCAAGCCATCCAC... |
Task1_train_180 | This variant affects gene MTOR (mechanistic target of rapamycin kinase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TAAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGC... | TAAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGC... |
Task1_train_181 | This variant affects gene MTOR (mechanistic target of rapamycin kinase) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | TAAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGC... | TAAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGC... |
Task1_train_182 | Given a variant located on Chromosome 1 and affecting MTOR (mechanistic target of rapamycin kinase), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | AAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCC... | AAACTTTCCAAGGCAGGAAATGTCTAAACAAATAAAAATTTGCCTATATTAAATAGACTAGATTTATTGATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCC... |
Task1_train_183 | Gene MTOR (mechanistic target of rapamycin kinase) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes | GATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCCCTTATGCCCTGAAGCAGGTCATAACATCTAGGAAAAATATTTTGACCTTCCCCTGAAGGAGGTCATAA... | GATATGATGAAATATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCCCTTATGCCCTGAAGCAGGTCATAACATCTAGGAAAAATATTTTGACCTTCCCCTGAAGGAGGTCATAA... |
Task1_train_184 | The variant affects gene MTOR (mechanistic target of rapamycin kinase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Isolated focal cortical dysplasia type II | ATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCCCTTATGCCCTGAAGCAGGTCATAACATCTAGGAAAAATATTTTGACCTTCCCCTGAAGGAGGTCATAAGGCCCTCATGTGA... | ATCATGCAGCTATTAAAAAAATGAGGCAGTAGCTCTACAGGTGCTGATATGGAACAGTGGCCTAGACTTGTTAAGTGAAAACAGCAGAGTGCAAAATGGTAAAAACAGCACATTGCCGTCAATGTACATCCCTGTGATGGGGGTCAGGATATACTACCCTGAAATATAGCACACCTTGGCATACTGAATATTTTAAGAAAATGGCAGCAAAAAAAAAATTACTCTGACTCTCCCCTGCCCTTATGCCCTGAAGCAGGTCATAACATCTAGGAAAAATATTTTGACCTTCCCCTGAAGGAGGTCATAAGGCCCTCATGTGA... |
Task1_train_185 | The gene MTOR (mechanistic target of rapamycin kinase) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Papillary renal cell carcinoma type 1 | ATCAGCTGGGTGTGGTTGTAAATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTATTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCCATATCACCTATTGCAACCTCTGTGTCACCAGCTTGGGCAACAGAGCTAGACCCTATCTCAAAAACCAAAAACATGGTAGTAGAGGTCTTATGACTTTTTTAGTACTTATTACTTTTCCTTACTGTGTCACTAAGTGGTGGTTTACAAGATTAAAACTAAAAAACAAAACTTCCTTTTTTAATTTTTCTTCCCCCCACCCCCGCCCCCGCCCCCGCCCACC... | ATCAGCTGGGTGTGGTTGTAAATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTATTTGAGCCCAGGAGGTGGAGGTTGCAGTGAGCCCATATCACCTATTGCAACCTCTGTGTCACCAGCTTGGGCAACAGAGCTAGACCCTATCTCAAAAACCAAAAACATGGTAGTAGAGGTCTTATGACTTTTTTAGTACTTATTACTTTTCCTTACTGTGTCACTAAGTGGTGGTTTACAAGATTAAAACTAAAAAACAAAACTTCCTTTTTTAATTTTTCTTCCCCCCACCCCCGCCCCCGCCCCCGCCCACC... |
Task1_train_186 | Located on Chromosome 1, this mutation impacts UBIAD1 (UbiA prenyltransferase domain containing 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Schnyder crystalline corneal dystrophy | CTTCCCTATGGTCCCAATTGATCAATGAGCATAGTTCAGACATGAATGTTGGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCC... | CTTCCCTATGGTCCCAATTGATCAATGAGCATAGTTCAGACATGAATGTTGGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCC... |
Task1_train_187 | Given a variant located on Chromosome 1 and affecting UBIAD1 (UbiA prenyltransferase domain containing 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Schnyder crystalline corneal dystrophy | ATAGTTCAGACATGAATGTTGGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCT... | ATAGTTCAGACATGAATGTTGGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCT... |
Task1_train_188 | A genetic alteration is present in UBIAD1 (UbiA prenyltransferase domain containing 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Schnyder crystalline corneal dystrophy | GGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACA... | GGTTGATATTTTATGTTAGGAGTAAGAGGAAAGTGAAACAATCAAAAGAGATATGTCAGAACTTCACTAGTTTGTCAAGGCTACAAGCGACTTATTTGTTCAACTGGATAATAATTTGCCAATGCTGAACGAATATTTCCTCAAAGTTTTGGTGCATTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACA... |
Task1_train_189 | This sequence change occurs on Chromosome 1, altering UBIAD1 (UbiA prenyltransferase domain containing 1). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Schnyder crystalline corneal dystrophy | TTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCT... | TTCACTTACACACTTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCT... |
Task1_train_190 | A change on Chromosome 1 affects gene UBIAD1 (UbiA prenyltransferase domain containing 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Schnyder crystalline corneal dystrophy | TTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGTG... | TTTTTTTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGTG... |
Task1_train_191 | This variant impacts the gene UBIAD1 (UbiA prenyltransferase domain containing 1) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; Schnyder crystalline corneal dystrophy | TTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGC... | TTCTCTCTTTTTTTTCTTTTTTGAGACGGAGTCTCGCTCTACTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATTACAGGAATGCACCACCACCCCCGGCTAATTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGCCCATTGGCATGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCAATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCTGC... |
Task1_train_192 | A variant on Chromosome 1 in gene UBIAD1 (UbiA prenyltransferase domain containing 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CAGTGGCCATGCCTTAATGCCCTTCCCTGGAGATACTTTGTTCTGAAGAACTAAGGGTGTGTATTTAGCACCAAGGGACCCCAGCTGCTGATGTGAAGGTGAACTTGGACTGGATCTTGTTCCTTAGCTCCTGTCATTTTATTTCATTTTGATTCCTGTGGCTAGTGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCAC... | CAGTGGCCATGCCTTAATGCCCTTCCCTGGAGATACTTTGTTCTGAAGAACTAAGGGTGTGTATTTAGCACCAAGGGACCCCAGCTGCTGATGTGAAGGTGAACTTGGACTGGATCTTGTTCCTTAGCTCCTGTCATTTTATTTCATTTTGATTCCTGTGGCTAGTGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCAC... |
Task1_train_193 | Here’s a variant in UBIAD1 (UbiA prenyltransferase domain containing 1) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Schnyder crystalline corneal dystrophy | CTGGAGATACTTTGTTCTGAAGAACTAAGGGTGTGTATTTAGCACCAAGGGACCCCAGCTGCTGATGTGAAGGTGAACTTGGACTGGATCTTGTTCCTTAGCTCCTGTCATTTTATTTCATTTTGATTCCTGTGGCTAGTGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTC... | CTGGAGATACTTTGTTCTGAAGAACTAAGGGTGTGTATTTAGCACCAAGGGACCCCAGCTGCTGATGTGAAGGTGAACTTGGACTGGATCTTGTTCCTTAGCTCCTGTCATTTTATTTCATTTTGATTCCTGTGGCTAGTGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTC... |
Task1_train_194 | A mutation in UBIAD1 (UbiA prenyltransferase domain containing 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Schnyder crystalline corneal dystrophy | TGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTCAGTCTGAGTGGGAGATCTTTCCTGACCTTGATCCCAAATTCCAGGTGCTTGTTACTGTAGCTCTGTCTTCAGTTCAGCCCTTGTGCCAAGTATTGGGGAGTGAGCTGTGACCAAGCCAGACACATGTCCTGCCCTCATG... | TGGGAACTTCTGTCATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTCAGTCTGAGTGGGAGATCTTTCCTGACCTTGATCCCAAATTCCAGGTGCTTGTTACTGTAGCTCTGTCTTCAGTTCAGCCCTTGTGCCAAGTATTGGGGAGTGAGCTGTGACCAAGCCAGACACATGTCCTGCCCTCATG... |
Task1_train_195 | With a mutation on Chromosome 1 in gene UBIAD1 (UbiA prenyltransferase domain containing 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Schnyder crystalline corneal dystrophy | CATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTCAGTCTGAGTGGGAGATCTTTCCTGACCTTGATCCCAAATTCCAGGTGCTTGTTACTGTAGCTCTGTCTTCAGTTCAGCCCTTGTGCCAAGTATTGGGGAGTGAGCTGTGACCAAGCCAGACACATGTCCTGCCCTCATGGAACTTACAGTTT... | CATTTTAGACTGGTTAAAATGCCTAACCAGAGCTTTATTTTCTGATCTTGAGTCCACATCTTGTAGCTTGGTTAGAACTGGAGTTTGCTAAGCTTCTGTAGCAATAATTGCATGGGTCACCTCCCTCAGTGGGCAGCTCCACTCATTCCATACTGCTTTACCTGTTTCAGTCTGAGTGGGAGATCTTTCCTGACCTTGATCCCAAATTCCAGGTGCTTGTTACTGTAGCTCTGTCTTCAGTTCAGCCCTTGTGCCAAGTATTGGGGAGTGAGCTGTGACCAAGCCAGACACATGTCCTGCCCTCATGGAACTTACAGTTT... |
Task1_train_196 | Here is a genetic alteration in MAD2L2 (mitotic arrest deficient 2 like 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Fanconi anemia complementation group V | CACAGAAGCCCCTGGTGGGCAGACCTCCACCACAGGTGGGGCCTCGTGGCCATAGCCATGGTGGAGAAGAGTAGAGATGGGAGGAGCCCTCCACCAGGCACTCCCCCGTTCTCTCCCGCAAGCCCTCTAGTAAGGCCTCAGCACCGGGCCTCACTTCGTTAAGCAGCCCCTAAATAAAGCTTCCCGGGTCCCCACGAAGCTCACCTTTAAAATGTCCGACGTCATGGTTTTTAGTGGTATCAGCCGGGGGTCATGCATGTGGACATCCTGCTCATCCGCCAGGATCCAGGGGAAATCCTAGGGAGGAGACAAAGGTCAGG... | CACAGAAGCCCCTGGTGGGCAGACCTCCACCACAGGTGGGGCCTCGTGGCCATAGCCATGGTGGAGAAGAGTAGAGATGGGAGGAGCCCTCCACCAGGCACTCCCCCGTTCTCTCCCGCAAGCCCTCTAGTAAGGCCTCAGCACCGGGCCTCACTTCGTTAAGCAGCCCCTAAATAAAGCTTCCCGGGTCCCCACGAAGCTCACCTTTAAAATGTCCGACGTCATGGTTTTTAGTGGTATCAGCCGGGGGTCATGCATGTGGACATCCTGCTCATCCGCCAGGATCCAGGGGAAATCCTAGGGAGGAGACAAAGGTCAGG... |
Task1_train_197 | With a mutation on Chromosome 1 in gene MTHFR (methylenetetrahydrofolate reductase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | TCAGCAGTTACAGCAGCAGGAAGATGGGTGGGTCCTTTCCCAGGTACTGCCCTCTTCCCTGCATTCCACTCAGCCAGCCTTCCAGAAGTCTGTGCCACAGCCACGCACCGTGGAGCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTC... | TCAGCAGTTACAGCAGCAGGAAGATGGGTGGGTCCTTTCCCAGGTACTGCCCTCTTCCCTGCATTCCACTCAGCCAGCCTTCCAGAAGTCTGTGCCACAGCCACGCACCGTGGAGCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTC... |
Task1_train_198 | This sequence variant lies in MTHFR (methylenetetrahydrofolate reductase) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | AGCCTTCCAGAAGTCTGTGCCACAGCCACGCACCGTGGAGCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTG... | AGCCTTCCAGAAGTCTGTGCCACAGCCACGCACCGTGGAGCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTG... |
Task1_train_199 | This sequence change occurs on Chromosome 1, altering MTHFR (methylenetetrahydrofolate reductase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Homocystinuria due to methylene tetrahydrofolate reductase deficiency | GTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGC... | GTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGC... |
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