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_26400 | An alteration has been detected in DNMT1 (DNA methyltransferase 1) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | ATTCAAGACCAGCCTAGGCAACATGGCAAAATCCCATCTACAAAATGTTTTTTTTTAATTAGCTGGGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGG... | ATTCAAGACCAGCCTAGGCAACATGGCAAAATCCCATCTACAAAATGTTTTTTTTTAATTAGCTGGGCATGGTGGCGTGCACCTGTGGTCCCAGCTACTTGGGAGGCTAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGG... |
Task1_train_26401 | Given a variant located on Chromosome 19 and affecting DNMT1 (DNA methyltransferase 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Inborn genetic diseases | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... |
Task1_train_26402 | This variant affects the gene DNMT1 (DNA methyltransferase 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant cerebellar ataxia, deafness and narcolepsy | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... |
Task1_train_26403 | This mutation occurs in DNMT1 (DNA methyltransferase 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary sensory neuropathy-deafness-dementia syndrome | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... | TAAGGTGGGAAGATCACTTGAGCCCAGTAGGTTGAGAATGCAGTGAGCTACAATCATGCCACTGCATTCCAGACTGGGTGACAGAACGAGACCCATCTCAACAACAACAACAACAACAACAACAACAAAACCAAGACTTTTAAAAATGTGCCTATTTGGCTGGGTGCAGTGCCTCATGCCTCTAATCCCGGCAGTTTGGGAGGCCAAGACAGGAGGACCACTTGAAGCCAGGAGTTTGAGACCAGGCAAGGCAACACAGCAGGACCCTGTCTCTACAAAAAAAAAAAAAAAAAGCAATATTCAACCTCATTAGAAATATG... |
Task1_train_26404 | A variant affecting Chromosome 19, within the gene DNMT1 (DNA methyltransferase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGA... | TTAGAAATATGGTAAGTGAGAGAAATAAAATTCCCTTCCCATTCTCCAGATGGGTTAAGAAGCCAGATAGGTGGTGTGAGGAAAGAAGAACGCACACTGCTCAAATGGTAAGTTGGTAGAACCATTTTGGAGAGCAATCTTCTAGATCAAAGTTAAGAATACACACCCACAACCCAGCAACGCTACTTCTAAGCAGATACACTCGCGAGAAGCTTTGCTCAAGGATGCTGCCACATATTTACAATACTGAAGAGGTGCCTATCATTGAGGAGTAAGTTAGGATATTCATTTAACAAAATACTACAGAATATTTAAAATGA... |
Task1_train_26405 | Given this variant in gene S1PR2 (sphingosine-1-phosphate receptor 2) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive nonsyndromic hearing loss 68 | GAAAGGAGGGTGTCTGTGCAAATATCACACCCAGAATTTTCTCAAGTTGCGCCTTGCATCAAGAGTCCCAAAGTCCTCCCCAGCCACCCAAACTCGTTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAG... | GAAAGGAGGGTGTCTGTGCAAATATCACACCCAGAATTTTCTCAAGTTGCGCCTTGCATCAAGAGTCCCAAAGTCCTCCCCAGCCACCCAAACTCGTTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAG... |
Task1_train_26406 | Here’s a variant in S1PR2 (sphingosine-1-phosphate receptor 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Autosomal recessive nonsyndromic hearing loss 68 | TTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGA... | TTTTTCTCACTTTTGGTGATTATTCTGTGCCCCAAATAGTGCAACTGAGCAATGAGGTCTGAGAATGAGGAATGGACCTCAGCCGCCATCCCCTCCCCACCTCCAGCCGTGGTTTCCGGGCCTCAGAGAGACGGGGAGAAGTCGTCAAGTGGCAGCTGATGAAATTTGGGGAAGCTGTGGATTTGGGCTCTGGATGGTCAGAGAGGAGGCCTCTAGCTCCTCAGGACAGTGGTTCTGTAGTCGCACGAAGTTGCCCAGAGAAGGTGGCAGGAGGAATACATTCGAAAAGGAGAAATCGGTGCAGGACTAGGGGCCAGGGA... |
Task1_train_26407 | The gene TYK2 (tyrosine kinase 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Immunodeficiency 35 | CAAAGGAAGTCTCACCTCACAGGGACATTTGTCGGGCCGTGGCAGCCTCTCCCCTCGTTCCAGCAACTCAGTGAGTCTCAGAACTGTCATCTGACCCTGAGCAATGCCTATGAGCTCAAGGAATTTCTACAGTATAAACAAGACAAGCTCTTTTCAAGAGGCAATGAAAGGCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAATGGCA... | CAAAGGAAGTCTCACCTCACAGGGACATTTGTCGGGCCGTGGCAGCCTCTCCCCTCGTTCCAGCAACTCAGTGAGTCTCAGAACTGTCATCTGACCCTGAGCAATGCCTATGAGCTCAAGGAATTTCTACAGTATAAACAAGACAAGCTCTTTTCAAGAGGCAATGAAAGGCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATAATGGCA... |
Task1_train_26408 | This alteration occurs within gene TYK2 (tyrosine kinase 2) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Immunodeficiency 35 | TCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAGGACAATTACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAGAAAAAAGAGCATATTAATTTTTTAAAGAGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGC... | TCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACCCAGGAGGCTGAGGCAGGACAATTACTTGAACCTGGGAGACGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAGAAAAAAGAGCATATTAATTTTTTAAAGAGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGC... |
Task1_train_26409 | Chromosome 19 houses a mutation in gene TYK2 (tyrosine kinase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Immunodeficiency 35 | AGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGT... | AGAACAATACAAAACTTTTTTAAAAAGAAAAAAAAAACTGCAGTGGTCTAATTCTCTAATCCAAAGAAGTTGTGTCTCTCCCCAGACAAAACATTAAGGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAAGCAGATAGATCATTTGAGGTCTAGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCACACGCTTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAACCTGGGAGGTGGAGGT... |
Task1_train_26410 | A genomic change on Chromosome 19 affects ATG4D (autophagy related 4D cysteine peptidase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; ATG4D-related neurodevelopmental condition | ATGGGCCTGGGCCCCCCTGAGCTGTCAGGGTCAGCCTCTCCCAGCCGGTACCATGGGCCTGCCCGCTGGATGCCCCCACGCTGGGCCCAGGGTGCCCCTGAGCTGGAGCAGGAACGCCGGCACCGGCAGATTGTGTCCTGGTTCGCCGACCACCCCCGGGCCCCCTTTGGCCTACACCGGCTGGTGGAGCTTGGGCAGAGCTCAGGCAAGAAGGCAGGTGACTGGTATGGGCCATCGCTAGTGGCACACATCCTCAGGTGAGGGCTGCTGCAGGGATCACGGGAGTTGCTGGGTACCCGCAGGCACTCAGGCCTTCCCTC... | ATGGGCCTGGGCCCCCCTGAGCTGTCAGGGTCAGCCTCTCCCAGCCGGTACCATGGGCCTGCCCGCTGGATGCCCCCACGCTGGGCCCAGGGTGCCCCTGAGCTGGAGCAGGAACGCCGGCACCGGCAGATTGTGTCCTGGTTCGCCGACCACCCCCGGGCCCCCTTTGGCCTACACCGGCTGGTGGAGCTTGGGCAGAGCTCAGGCAAGAAGGCAGGTGACTGGTATGGGCCATCGCTAGTGGCACACATCCTCAGGTGAGGGCTGCTGCAGGGATCACGGGAGTTGCTGGGTACCCGCAGGCACTCAGGCCTTCCCTC... |
Task1_train_26411 | This alteration occurs within gene ATG4D (autophagy related 4D cysteine peptidase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; ASHER | TTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCC... | TTTTTGAAAATATTCGAGTCTCACTCTCTTGCCCACGCTGGAGTGCAGTGACACCGTCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCAAATTTCCTGCCTCAGCCACCCAAGTAGCTGGGATTACAGGTGTATGCCACCACGCCCGGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTTCCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAGGTGATCCACCCACCTCGGTCTCCCAAAGCGTTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCTACACAACTTTAAAAAAACAGTAACCC... |
Task1_train_26412 | Given this variant in gene DNM2 (dynamin 2) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Centronuclear myopathy | CACAATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAA... | CACAATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAA... |
Task1_train_26413 | A sequence alteration has been identified in DNM2 (dynamin 2) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Centronuclear myopathy | AATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAA... | AATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAA... |
Task1_train_26414 | An alteration has been detected in DNM2 (dynamin 2) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Centronuclear myopathy | ATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAA... | ATTCAAATTCTCCATTCCAGGCTGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGATTGAGAGACCAGCCTGGCCAACATGCCGAAACCCCATTTCTCCTAAAAGCACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTATTCCCAGCTACTGGAGAGGCTGAGGCAGGAGAATCACTTGAACCCGGCAGGCGGAGGTTGCAGTAAGCTGAGATTGTCCCATTGCGCTCCAGCTTGGGCGACAGAGTGAGACTCCAGCTCAAAAAACAAAAAACAAA... |
Task1_train_26415 | This mutation occurs in DNM2 (dynamin 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Fetal akinesia-cerebral and retinal hemorrhage syndrome | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTG... | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTG... |
Task1_train_26416 | This sequence change occurs on Chromosome 19, altering DNM2 (dynamin 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTG... | TGGCGGGAACCTATGGAAGCCACCTGAATTGTGGGGAAGTGGCTACCTTTCCTTCCCAGCATCCTGTAAATCAAGTTGAGCTTCAGGGCAGAGGTGCTGAGCTTTGACCCCTGAACTTCACTCCTGTCTTCTGCAAAGTGGGAGGAATAAGTGGGCCTTCTCAGATCGAATGGGTGAATAATCGGAACAGGCTTAGCTTGAGCCTGACTCGTAGCCAGCATTTGCCATTGGGAGCTCTTGAATTTGGTTTATTTGTCTTAATATAGACAGAAGACATTTTGCTGCTGAAAAATGGTAAAAGAACAGTAAACCCTGGCTTG... |
Task1_train_26417 | A mutation in DNM2 (dynamin 2), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Centronuclear myopathy | TGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAG... | TGCTTTGCTGCCTCCTGGGAAGCAGAGAGGGACCCCCCGCGTCAACTGCTGGAGGCTGAGCTCCTTGAAGCTCCCTGGCTGTCACCCCTTCTTGACCAATGCCCGGCATTCTCAGACTTCCCTGGAGCCACCGACTTCTCTGTCCCTCAGCTCCGGGAATGGCCTGAATGCCAGCGACATCATGAGAGCCAGCTGGGGTCCTAAGTGCCCCTGCCCACCCCCTGCACCCCACGCTGTCCCCCAGGGGCAGCCCATTTTTGGATCCACTTAGTCACAGTGCCTCTATGCGCTCTCGACGAGCCACTGCCTCCACTCAGCAG... |
Task1_train_26418 | The gene DNM2 (dynamin 2), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | CCCTTGGGCAAACGTCCGAGCCGGGGGCAGGGCTTCTGCAGAGCCCCCTCCCCTAGCCCCTTCTAAAGCCCCCAAAACTCTTCCCCGAAAGGTGGGAGGGACCCAGGCCCTGTGTTACCCAGCCTTGCCTGGGATGACGGGTGCAGGCTTTCTTCATCACCTTCCCTCCCTTGGGTCCGCAGCGGCATCCCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTTCCTATGCTCTGCCCTACTTCTTTGCC... | CCCTTGGGCAAACGTCCGAGCCGGGGGCAGGGCTTCTGCAGAGCCCCCTCCCCTAGCCCCTTCTAAAGCCCCCAAAACTCTTCCCCGAAAGGTGGGAGGGACCCAGGCCCTGTGTTACCCAGCCTTGCCTGGGATGACGGGTGCAGGCTTTCTTCATCACCTTCCCTCCCTTGGGTCCGCAGCGGCATCCCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTCCTATGCTCTGCTCCCTCCATGGCCACCGGGCCCCTCTTCCTATGCTCTGCCCTACTTCTTTGCC... |
Task1_train_26419 | Gene DNM2 (dynamin 2) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Centronuclear myopathy | TGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGC... | TGTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGC... |
Task1_train_26420 | With a mutation on Chromosome 19 in gene DNM2 (dynamin 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCA... | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCA... |
Task1_train_26421 | The gene DNM2 (dynamin 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant centronuclear myopathy | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCA... | GTGAGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCA... |
Task1_train_26422 | Here is a variant affecting DNM2 (dynamin 2) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCC... | AGCTACTGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCC... |
Task1_train_26423 | This mutation occurs in DNM2 (dynamin 2) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Charcot-Marie-Tooth disease dominant intermediate B | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... |
Task1_train_26424 | The gene DNM2 (dynamin 2) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Autosomal dominant centronuclear myopathy | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... |
Task1_train_26425 | This variant lies on Chromosome 19 and affects the gene DNM2 (dynamin 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Centronuclear myopathy | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... | TGCACCTGGCCCAAAACCCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCA... |
Task1_train_26426 | Here is a mutation in DNM2 (dynamin 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | CCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTG... | CCCGACTTCTACTTCTTTGTCCAAAATGGCTGCCCAGACTCCAGCCATTGTGATGATGTCCCAGGCAGCAGCAGGAAGGAGAGGAGGAGCTACAAGGGCATGCCTCTCCCCACACAACCTCATCCAGAGGTCGTTCGGGGCAGCCACTTGCTGACCACAAACCCAACTCTCACTTAAAGGCTTTGTGGGCAGCTTGGCTGTCTTAACCACACCTGGATGTGGGACAGGAAAATGTGCGTGGCATGTGGCACGGGGCCTGGCCTGTAGACCACCATCTGCAAGCACTGTTTAGCATCCATTCCATTTATCTCCCAGCTTTG... |
Task1_train_26427 | Here’s a variant in DNM2 (dynamin 2) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Centronuclear myopathy | CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGA... | CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACACATTCGGGCACAGTGGCTCACACCTGTAATCTCAGAACTTTGGGAAGCCGAGGTGGGCGGATCAGCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACTAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGAAAGGTGGAGGTTGCGGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGA... |
Task1_train_26428 | The variant affects gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Intellectual disability, autosomal dominant 16 | TTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCG... | TTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCG... |
Task1_train_26429 | This is a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | GTCTGCATTAGCAAGCAAAATGTGCATATTTTTGTCTTCATTTGCATACATATCTCCAGTGTACATTGGTGTGCACCTTGTTATTTTCACTGAACCTTCCCTCTTGGAGGTCATCCTGTGTCCGTGCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGC... | GTCTGCATTAGCAAGCAAAATGTGCATATTTTTGTCTTCATTTGCATACATATCTCCAGTGTACATTGGTGTGCACCTTGTTATTTTCACTGAACCTTCCCTCTTGGAGGTCATCCTGTGTCCGTGCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGC... |
Task1_train_26430 | The gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Inborn genetic diseases | AGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTC... | AGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTC... |
Task1_train_26431 | A variant was discovered on Chromosome 19, affecting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Intellectual disability, autosomal dominant 16 | TGGTTTTGGGAACCAAGACCTGGGTCCTGGATGGGCCTGTTGCTTCTGGGGTGTCATTGCTCCTGGGGCCCTCTCAGTGGTCAGTGCTAGGAGATTCATGTGCGCGTGCTGATGCTTTGTGCACGTATCGTCTAAAAGGCCTTCTCTGCCTCGGCATCTGTTTCTGTGTTAAGCTGAACGTGAGTTCATACCACTGTCTGCGGCTCTGAGTGAGGACCACAGGTTCCTTCTCACACTTCCACCCTGTGTGTGCGCCCATTCTCAGCTTCCGTGGACAACAGTTTCAGAGTAGTGAGCCGGTACCTCCGGGAAGCATCTTG... | TGGTTTTGGGAACCAAGACCTGGGTCCTGGATGGGCCTGTTGCTTCTGGGGTGTCATTGCTCCTGGGGCCCTCTCAGTGGTCAGTGCTAGGAGATTCATGTGCGCGTGCTGATGCTTTGTGCACGTATCGTCTAAAAGGCCTTCTCTGCCTCGGCATCTGTTTCTGTGTTAAGCTGAACGTGAGTTCATACCACTGTCTGCGGCTCTGAGTGAGGACCACAGGTTCCTTCTCACACTTCCACCCTGTGTGTGCGCCCATTCTCAGCTTCCGTGGACAACAGTTTCAGAGTAGTGAGCCGGTACCTCCGGGAAGCATCTTG... |
Task1_train_26432 | This sequence variant lies in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | TGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCA... | TGTGGGAAATGCCAGGCCATGGGCCGAGTGCTCACACGTGGGTCACGCTGCCCGTCTCCTCCAAAGCCCCTACAAGTTTCTTCCCGGAGTCCCACCTGCATGTGCGTGAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCA... |
Task1_train_26433 | This is a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Intellectual disability, autosomal dominant 16 | GAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAG... | GAAGACAGCTGCCCTGTGTAGGGGAAAGGCCTAGGTGGGGGCGACCTCAGGTTTACCTCCCTAACTGTCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAG... |
Task1_train_26434 | A mutation found in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; not provided | TCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACT... | TCTCCAGGCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACT... |
Task1_train_26435 | The following genetic variant occurs in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCT... | GGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCT... |
Task1_train_26436 | Here’s a variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Intellectual disability, autosomal dominant 16 | GGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTG... | GGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTG... |
Task1_train_26437 | The gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Rhabdoid tumor predisposition syndrome 2 | ACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATG... | ACTTCTCTGGGGATGTGTCCCCCCACAGTGGGGTCCTGCTGCGTCTCTTTGGCTCACTGGCTTTTCTCACGTTGCGGGGCGTCAAGAGTCACCACCGTCTTCAGTGAAGTGTGGGGGAGTCAGAACCCTTTTTGGTCATGGTGGCTTTGAGAATCTGGGTTCTTAGAAGCATGCATATGTTCGTGTTTCTTGGTGTAAAGTGTCAGGGTCGTTGGAGACCGCCTGCTGCCCCGAGAGCCCCTGGGGCTGTCTCAGCACCCTGAGCGTGGCTGTGGCCCCATGACGTCCTCGTGCATTCAGGGTGTGAAGAGTGCTGTATG... |
Task1_train_26438 | A variant has been detected on Chromosome 19 in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Intellectual disability, autosomal dominant 16 | GTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACA... | GTCAGGGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACA... |
Task1_train_26439 | This alteration occurs within gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACAC... | ACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACAC... |
Task1_train_26440 | The variant affects gene LDLR-AS1, LDLR (LDLR antisense RNA 1| low density lipoprotein receptor), which is on Chromosome 19. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGAT... | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGAT... |
Task1_train_26441 | Given this context: Chromosome 19, gene LDLR, LDLR-AS1 (low density lipoprotein receptor| LDLR antisense RNA 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGAT... | CATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGAT... |
Task1_train_26442 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCC... | GTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCC... |
Task1_train_26443 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATG... | TCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATG... |
Task1_train_26444 | Located on Chromosome 19, this mutation impacts LDLR (low density lipoprotein receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypercholesterolemia, familial, 1 | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGT... |
Task1_train_26445 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | ATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCC... | ATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCC... |
Task1_train_26446 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Familial hypercholesterolemia | AATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTG... | AATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTG... |
Task1_train_26447 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | TCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC... | TCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC... |
Task1_train_26448 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | GTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCAC... | GTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCAC... |
Task1_train_26449 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypercholesterolemia, familial, 1 | TGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACC... | TGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACC... |
Task1_train_26450 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | TTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCT... | TTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCT... |
Task1_train_26451 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | TAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTC... | TAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTC... |
Task1_train_26452 | Chromosome 19 houses a mutation in gene LDLR (low density lipoprotein receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Hypercholesterolemia, familial, 1 | AATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCC... | AATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCC... |
Task1_train_26453 | The gene LDLR (low density lipoprotein receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypercholesterolemia, familial, 1 | CTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTG... | CTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTG... |
Task1_train_26454 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hypercholesterolemia, familial, 1 | TCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGA... | TCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGA... |
Task1_train_26455 | Assess the clinical impact of this variant on gene LDLR (low density lipoprotein receptor), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | TCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGC... | TCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGC... |
Task1_train_26456 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCG... | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCG... |
Task1_train_26457 | A change on Chromosome 19 affects gene LDLR (low density lipoprotein receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | GAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGA... | GAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGA... |
Task1_train_26458 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypercholesterolemia | TTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAG... | TTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAG... |
Task1_train_26459 | Located on Chromosome 19, this mutation impacts LDLR (low density lipoprotein receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Hypercholesterolemia, familial, 1 | GAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAG... | GAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAG... |
Task1_train_26460 | Gene LDLR (low density lipoprotein receptor), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | AGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCA... | AGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCA... |
Task1_train_26461 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAA... | CTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAA... |
Task1_train_26462 | A change on Chromosome 19 affects gene LDLR (low density lipoprotein receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cardiovascular phenotype | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGA... | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGA... |
Task1_train_26463 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hypercholesterolemia | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGA... | CTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGA... |
Task1_train_26464 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | GCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGA... | GCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGA... |
Task1_train_26465 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | CACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAA... | CACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAA... |
Task1_train_26466 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | CAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGG... | CAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGG... |
Task1_train_26467 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial hypercholesterolemia | GCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGA... | GCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGA... |
Task1_train_26468 | Gene LDLR (low density lipoprotein receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | TTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGC... | TTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGC... |
Task1_train_26469 | Consider this mutation in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Hypercholesterolemia, familial, 1 | ATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATA... | ATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATA... |
Task1_train_26470 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCC... | GTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCC... |
Task1_train_26471 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | AAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAA... | AAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAA... |
Task1_train_26472 | Gene LDLR (low density lipoprotein receptor) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | CAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCT... | CAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCT... |
Task1_train_26473 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | AGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTG... | AGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTG... |
Task1_train_26474 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | GGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCC... | GGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCC... |
Task1_train_26475 | The gene LDLR (low density lipoprotein receptor) on Chromosome 19 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACAC... | CCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACAC... |
Task1_train_26476 | An alteration has been detected in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAAT... |
Task1_train_26477 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATA... | TGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATA... |
Task1_train_26478 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... | TGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCT... |
Task1_train_26479 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypercholesterolemia, familial, 1 | AGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCC... | AGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCC... |
Task1_train_26480 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCA... | GTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCA... |
Task1_train_26481 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | TCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTC... | TCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTC... |
Task1_train_26482 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAA... | CTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAA... |
Task1_train_26483 | This sequence change occurs on Chromosome 19, altering LDLR (low density lipoprotein receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hypercholesterolemia, familial, 1 | GGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCA... | GGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCA... |
Task1_train_26484 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGC... | GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGC... |
Task1_train_26485 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAA... | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAA... |
Task1_train_26486 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAA... | TTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAA... |
Task1_train_26487 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | CACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGG... | CACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGG... |
Task1_train_26488 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | TCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAAC... | TCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAAC... |
Task1_train_26489 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | ACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTC... | ACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTC... |
Task1_train_26490 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTT... | ATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTT... |
Task1_train_26491 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | TGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTT... | TGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTT... |
Task1_train_26492 | A variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hypercholesterolemia, familial, 1 | CGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTT... | CGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTT... |
Task1_train_26493 | A mutation in LDLR (low density lipoprotein receptor), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Familial hypercholesterolemia | GCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTT... | GCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTT... |
Task1_train_26494 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | TATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATA... | TATTAGGATAACTGTACAGTATAGAGAAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATA... |
Task1_train_26495 | A genomic change on Chromosome 19 affects LDLR (low density lipoprotein receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hypercholesterolemia, familial, 1 | AAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGT... | AAGGCAGTGGCAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGT... |
Task1_train_26496 | A mutation on Chromosome 19 affecting LDLR (low density lipoprotein receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Familial hypercholesterolemia | CAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGA... | CAAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGA... |
Task1_train_26497 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | AAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGAC... | AAGTTTTCTCTGTCATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGAC... |
Task1_train_26498 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Hypercholesterolemia, familial, 1 | ATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAAT... | ATATACCAGAGTGGGCTTGGGCATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAAT... |
Task1_train_26499 | The gene LDLR (low density lipoprotein receptor), on Chromosome 19, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hypercholesterolemia, familial, 1 | CATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTC... | CATGGTGGCATACTCCTGTAGTCTCAGCTAATCAGGAGGCTGAGGAAGGAGGATCGCTTGGGCCCAGGAGTTGGAGACTGTAGTGAGCTGTGATCACACCACCACACTTCAATCTGGGCAACAGAGCAAGAGACCCTATCTCTAAAAAAAAGTAAGTATTTCGGACACTGTGGGCCATACGGTCTCTGGTGCAGTTTCTCAACATGGCTGTTGGGTGAACACAACCACGCACAGAACGCAAACCAATACACGTGGCTGTGGGCCCAGAAAATGTTATTTATGGACACAAAAATTGGAATTTCATATAACTGTTTTGTGTC... |
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