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_20500 | Chromosome 15 houses a mutation in gene SLC12A6 (solute carrier family 12 member 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Charcot-Marie-Tooth disease, axonal, IIa 2II | ATTTCCCAGTCTTGTTTCATGTATTATTCTAGATTTTTTGTCTTGTTTTGCTGGAATATCTCAAAGAAAATACCATGCATTATGACCGTGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCAC... | ATTTCCCAGTCTTGTTTCATGTATTATTCTAGATTTTTTGTCTTGTTTTGCTGGAATATCTCAAAGAAAATACCATGCATTATGACCGTGTACTAATCAAAAAAGAGGAGAAGCCCCAAAGGTGAACCTGAGACAAAATGGAATTTCCCAAATTGAGATATAACCAGAATGTCACCTTTAGAAATTTTATGCCCCTAAAAAGGACCTTCAGCTGTATTACAGTCCCTAGATAAGCAGATTAAAAGTTTAAGATGGAATCTACTTCTGCCATCATGCAGCATAGCATAGAAGAAATACTGAATGGGGAGTCAGGAAATCAC... |
Task1_train_20501 | Here’s a variant in LOC129390683, SLC12A6 (MPRA-validated peak2292 silencer| solute carrier family 12 member 6) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inborn genetic diseases | GAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATT... | GAGACAGCCCAATAAAATATATTCTGGCTGGGTGTGGAGGTTCACGCCTCTAATGGTAGCACTTTGGGAGGATGAGGCGAGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAAACTGGGTAACATAGTAAAATGTCACCTCTGTAAAAAAAAAAAAATAGCCAGGCATAGTGGTGTACACCTCTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAAAGCAGCTTGAGCCTAGGAGTTGGAGGCTGTGTGAGCTATGATCGTGTCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTATAAAAAAATATATATT... |
Task1_train_20502 | This variant lies on Chromosome 15 and affects the gene NOP10 (NOP10 ribonucleoprotein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Dyskeratosis congenita, autosomal recessive 1 | TAACTCTTTAAAATCCTTCAGATCCAATGTTAAGAACCCTGCAAGTAAGTGAACAGGCTAAGAAATAAAATTCCTTGACAGGAAACAAGTATCTCATTTCACCATTCCTATATGTTTCAGTAATGTATTTCAAAATCATCTGTCTTCTATTAATTATGACTCCAGTTGAGAGACTTTTTTTTTTCTTTTCAGCAACCCACAACTATCCTGAACTTTTCTGCTGGGATGGTCAAATAGCAAGATCCAAGAAAAGCAAAGTCTGGCCGGGCACTGTGGCTCACGCCCGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGG... | TAACTCTTTAAAATCCTTCAGATCCAATGTTAAGAACCCTGCAAGTAAGTGAACAGGCTAAGAAATAAAATTCCTTGACAGGAAACAAGTATCTCATTTCACCATTCCTATATGTTTCAGTAATGTATTTCAAAATCATCTGTCTTCTATTAATTATGACTCCAGTTGAGAGACTTTTTTTTTTCTTTTCAGCAACCCACAACTATCCTGAACTTTTCTGCTGGGATGGTCAAATAGCAAGATCCAAGAAAAGCAAAGTCTGGCCGGGCACTGTGGCTCACGCCCGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGG... |
Task1_train_20503 | A mutation found in NOP10 (NOP10 ribonucleoprotein) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 | GTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCA... | GTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCA... |
Task1_train_20504 | Gene NOP10 (NOP10 ribonucleoprotein), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 | GGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGAC... | GGAGGCTGAGGTGGGTGGATCACTTGAGGTGAGGAGTTTGAGACCAGCTTGGCCGACATGGCGAAACCCTGTCACTACTAAAAGAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCACCTGTAATCCCAGTTACTTGGGAAGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGTAGTCAGCCAAGGCTGCACCCCTGCACTCCAGCCTGGACAACAGATCTAGACTCTGTCTCAAAAGAAAAAAAAAGAAAGGCCCACCACTAAATCAATTTGAGTTCAAAGATAAGTTAATCAGGAGAAAAATCAGAC... |
Task1_train_20505 | Consider this mutation in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Atrial septal defect 5 | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... |
Task1_train_20506 | An alteration has been detected in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dilated cardiomyopathy 1R | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... |
Task1_train_20507 | A genetic alteration is present in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypertrophic cardiomyopathy 11 | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... | TGTACAGAGGAAAAGAAAGAGACACAAAAACTAGTGAAATCATACCTCCCCATGCATGGCTTTTAAACCAGTTCAACTGTGCTATAGGATACAATGGGGTGGTGGGGGCGGGGGGCATATGTACAATAATGTTTGCACCTTATCTAAATAAAATGCCACCAAGTTGATGTATTATTTAGCCTTTATTGCATAGAAGGCCTTCCATTTGAATATGCTACATACAGAACTCTAAACTCTGAGCTTTTTATTCACAGAAAATGTGCTCTCATACATCTTTGTGTCCCCTGCCCTTAATACTATGCCCGACCCAGAGTCAGGGA... |
Task1_train_20508 | Here is a variant affecting GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Atrial septal defect 5 | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... |
Task1_train_20509 | Assess the clinical impact of this variant on gene GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Dilated cardiomyopathy 1R | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... |
Task1_train_20510 | A mutation in GJD2-DT, ACTC1 (GJD2 divergent transcript| actin alpha cardiac muscle 1), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypertrophic cardiomyopathy 11 | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... | GCTAACAGTTCACTGGCAATTAATTTGAAAACAAAAATCTGTAAGGCTTCTGCAATCTAGTTGAAATCTACCTTTCCCAGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACG... |
Task1_train_20511 | Consider this mutation in ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCC... | AGTGGATTTTCTAAAATTCATCAGCACCTACCAGCCTGCCCCATGTCTTGTATCCTGGCTTCTGCCACACTTCCTTCTGCTGAGATGTCCTCTCTGCTCTTCTCACCTCCCTAATTCCTGACCATTCTCTAAGACCCAGACCCACATACATCTCCTTAAAGCCTCCAGGCCACACGCACTGGGGGATTATGTGTAGGTGTGTGAACTCCTCGAGGATGGAACACATTCAATTCTTTTCAACGCTGCCCCTAGCAGCCTTCCCACCATACTTTGCAGAGAGCTCTGCACAGAGCAAAGCAAACACTGTGGCTCTCGCCTCC... |
Task1_train_20512 | Gene ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cardiovascular phenotype | GCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAAT... | GCTGGAAGGTGGACAGAGAGGCCAGGATGGAGCCCCCAATCCAGACAGAGTATTTACGCTCAGGGGGAGCAATAATCTGCAGAAAGAAAACAAAAACTTCCAGTGAACTCTGAAGTTCCAAGCAAGGGAGCAAATAACACATTGGGAGGATTCACAGAAAAAAACCATTAGATATTAATTCGCTATAATGTGGGATATGTCATACCACGAAATAATGTGGCCAATCAAGTTATATGAACTCACCTCTATTTCATCATTTATATTATTAAAGATATATTCTATTATTAAAATGGAATTTCTCCACTTACCTAGAGTGTAAT... |
Task1_train_20513 | A genomic change on Chromosome 15 affects ACTC1, GJD2-DT (actin alpha cardiac muscle 1| GJD2 divergent transcript). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Atrial septal defect 5 | TGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATAC... | TGCCAGCAGATTCCATACCTGGGAACGAGTCACACACACACACACACACACACACACACACACACACACACACACATCACAGTGCATTCAGGTCAAGGTAGAGGGAAGAGAACAGAACTTCTTTGTGTGGGGGAGCTGTCACCATTTGTCTCTGAAACATATGTTCCCCTATAAGACACACTGCAGGGTGGAATGGGTGCCTCACAGTTAATCCACAATACAATGCCAAGAAAGGAGCAACTGTGCTTAGCACCTGTTTCAAGTAAACACCTCCTGAAACTCTCAGATGTATGAAGATGTATTGGAAAAGGAAAAGATAC... |
Task1_train_20514 | This sequence variant lies in MEIS2 (Meis homeobox 2) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | GGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAAGGATGTGTA... | GGGCAAGGAAAAATAAAATGGGGGCAAATTATAAAAAATAAAATAAAGTCTCTGAAGTGATAGTGAAGACAGATCGCACCCGACTGTACTTACTTCCCCCTTGCTTTGCGATTGCTTTACATGATGAAGGTTACATGTAGTGCCATTGCCCATCCATGCCCATATTCATGCCCATTCCACTCATAGGTCCTAGAAAGGAGATAAAATCCAAGAAGAGGCCGGAAAATCAGCAATAATTGATGGTGAAAAAATAGAAGGAAACTCAGATTCCTTTTCACTTATTGCCTTGGTTTAAAAAGAAAAAAGAAAAAGGATGTGTA... |
Task1_train_20515 | The gene SPRED1 (sprouty related EVH1 domain containing 1) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Legius syndrome | TTAGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAA... | TTAGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAA... |
Task1_train_20516 | Here’s a variant in SPRED1 (sprouty related EVH1 domain containing 1) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Legius syndrome | AGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGA... | AGGCTCCAGCCCGCAACCCCAGTAGGTTTCTGTGCAAAAATCTTTTGAGATGAATGCATACTTTGTCTTCTAACAATGCATTCGTGACAGCTGTCTATCCAATCGGTCCGCCTCCGTTCAGAGCAGTTCGTGCCACAGAAGCATCTCCTGCGCTATAGTTATGCAACCTCACTCGCAGCGGGAGTTATTTCCTCCGTTCTGGCTGCGCCAGATTCATGTAACACGCCTACCCTGGGCTTCAATGGAAGTCGTTCTCCATTAACAATCACTCCAGCTTTCCGAGATGAATGCCCTGATAGCATACCCCTTGCGCAGTAAGA... |
Task1_train_20517 | Consider this mutation in SPRED1 (sprouty related EVH1 domain containing 1) on Chromosome 15. Is this a benign change or a disease-causing variant? | Pathogenic; Legius syndrome | GCTCCAGCCCATCTCAGGAGAATTTAATATCTACATCAACCCAACCTTCATGCACCCGCACTTCCTCTGACTGTTTCTCTGAGTTGAAGATTGGCAAGAATTGGGTCCAGATAAGAATCAGAGCCTCTGAATAACTAAATAATAAAAAGCTTCCACAAAAGAGTAAATTATGAAGCCAAACCCTTTCAGAGTTTCTATATAAAGAATTATTTTGACCCCAATAATAGATAATTATGGTTGAACATGAAAATTCAATTATTTCCCAGATCCTGATTTTGAATTACCAGGATGGTAGTGTCTTCGGTTTTCAATGCTTTGTT... | GCTCCAGCCCATCTCAGGAGAATTTAATATCTACATCAACCCAACCTTCATGCACCCGCACTTCCTCTGACTGTTTCTCTGAGTTGAAGATTGGCAAGAATTGGGTCCAGATAAGAATCAGAGCCTCTGAATAACTAAATAATAAAAAGCTTCCACAAAAGAGTAAATTATGAAGCCAAACCCTTTCAGAGTTTCTATATAAAGAATTATTTTGACCCCAATAATAGATAATTATGGTTGAACATGAAAATTCAATTATTTCCCAGATCCTGATTTTGAATTACCAGGATGGTAGTGTCTTCGGTTTTCAATGCTTTGTT... |
Task1_train_20518 | A variant on Chromosome 15 in gene RASGRP1 (RAS guanyl releasing protein 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Immunodeficiency 64 | AGAAGTCACAACCCAAATAAAATAGCTGCAAATTAACTGAGCCCCATTTTACTGTGCTATATGGCTGCTGATGGGTGGAAAACCTATGAGTAGGACCAAAATCGCTCCTTAAGAGAGATATATAAAGCAAACATCTTACTGGTTCTAAAAGAAAGTAGCCACAACTCATTGCATATATTTTGAATATATTCATTCAATTAATATATTCCAGTGAATACATTTAATACCCCCCTCCCACTATAAATATAACTTTAAATCCACTTGTTTTTTTAAAACAATTATCCCAGTAACATCCTCACTACCCCTAAAGTTTTGTAATA... | AGAAGTCACAACCCAAATAAAATAGCTGCAAATTAACTGAGCCCCATTTTACTGTGCTATATGGCTGCTGATGGGTGGAAAACCTATGAGTAGGACCAAAATCGCTCCTTAAGAGAGATATATAAAGCAAACATCTTACTGGTTCTAAAAGAAAGTAGCCACAACTCATTGCATATATTTTGAATATATTCATTCAATTAATATATTCCAGTGAATACATTTAATACCCCCCTCCCACTATAAATATAACTTTAAATCCACTTGTTTTTTTAAAACAATTATCCCAGTAACATCCTCACTACCCCTAAAGTTTTGTAATA... |
Task1_train_20519 | A variant affecting Chromosome 15, within the gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial pulmonary capillary hemangiomatosis | AGTCTAGGAGTTCGAGGCTGCCATGAGTGATGATCGCAACACTGCTTTCCAGCTTGGGTGACAGAGCAAAACCTTATCTCAAAAAAAAAAATTAAAATTAAAAAAAAAGGCCAGCTTAAATCAGTTACAGTTTAACTACTTAGACTTTAACTTAGACTTTAGCTTGCATTGAAATCATTTGGAGCTCTTGTTAAAGCACAGATCACTGTCCAAACCTCCAGAGATGCTGATTTACTAGGTCAGGGGTATAGTAGAATTTGTATTTCTAACATTTTTTAGGGGATACTGATGCTACTGGCCAGGGACCCCACTTTGAGAAG... | AGTCTAGGAGTTCGAGGCTGCCATGAGTGATGATCGCAACACTGCTTTCCAGCTTGGGTGACAGAGCAAAACCTTATCTCAAAAAAAAAAATTAAAATTAAAAAAAAAGGCCAGCTTAAATCAGTTACAGTTTAACTACTTAGACTTTAACTTAGACTTTAGCTTGCATTGAAATCATTTGGAGCTCTTGTTAAAGCACAGATCACTGTCCAAACCTCCAGAGATGCTGATTTACTAGGTCAGGGGTATAGTAGAATTTGTATTTCTAACATTTTTTAGGGGATACTGATGCTACTGGCCAGGGACCCCACTTTGAGAAG... |
Task1_train_20520 | A variant has been detected on Chromosome 15 in EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Familial pulmonary capillary hemangiomatosis | AGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTT... | AGCATTACTGTTACTGTAGAAAAACTTTTACACTAAAAAAGGAATTAAATTAGTTTTCCTGTGGTAAAAGACAGACAAGCAAGACAGATGTCCTGATCAGAAAGATCATAATTATGTCTAAGAGGAGGGGATGATTGAAGCGTATACTGTCCCTTTAACACAATATCATTTTGATCAAATCCTTTAACTTCATTCTATTTTAAATTCTTGAACGTAGAATAGTAACAAATTTCATCTCTTTACAAGTACTTAATAATGATAGGCAAGCTCATATAACAAAAACATCTGAGTAACTTAAGCCCCCACGGTTTCCAGTAGTT... |
Task1_train_20521 | A variant affecting Chromosome 15, within the gene EIF2AK4 (eukaryotic translation initiation factor 2 alpha kinase 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Familial pulmonary capillary hemangiomatosis | AGCTTCACCTTGTCCACAAAAGGATCAAGCCAGTTTCTCACAGATTCTTTTAATGCCTCTAACATAAGTTCTTATGTGAGGTATTGGAAGCCCCTAAAAGTACATGCAAAATGTGTGTATATGCATTCAGGGAAGAGGACCCATACTTTCAGTCACCTACTTGAAGGAGTCCTTGACCTTTCCTCCTCCCTACCCACCCAAGAGATTAAGAAGCAGTGCCTACAAAAATTAGCCGTGCGTGGTGGCATGCACCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGGCGGAGGTT... | AGCTTCACCTTGTCCACAAAAGGATCAAGCCAGTTTCTCACAGATTCTTTTAATGCCTCTAACATAAGTTCTTATGTGAGGTATTGGAAGCCCCTAAAAGTACATGCAAAATGTGTGTATATGCATTCAGGGAAGAGGACCCATACTTTCAGTCACCTACTTGAAGGAGTCCTTGACCTTTCCTCCTCCCTACCCACCCAAGAGATTAAGAAGCAGTGCCTACAAAAATTAGCCGTGCGTGGTGGCATGCACCTGTAATCCCAGCTACCCGGGAGGCTGAGGCAGGAGAATCGCTTGAGCCTGGGAGGCAGGCGGAGGTT... |
Task1_train_20522 | The following genetic variant occurs in IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Isovaleryl-CoA dehydrogenase deficiency | TCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAA... | TCATAGTAGCCTTAAAGTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAA... |
Task1_train_20523 | A variant affecting Chromosome 15, within the gene IVD (isovaleryl-CoA dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Isovaleric acidemia, type I | GTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACAT... | GTTGGTTGGTATCATTTTCGTTTTAAAGATGATGAAACAGTGACTGAAAAGATCTAAGAAACTTGCCGAAAGTCCCACAGCTATGTAGTGGGATTGCATAGACTCCTGGACTCAGGGTACCAACCTGAGATGAGTTGTTCAAGAGCATTGACTTGGCTGGGTTCCGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGACAGGAGGATCACATGAGCCCAGGAGTTCAAGATCAGCTTGGGCAACATAGTGAGACTGCCCACCCCCACCCCGGCCCCATCTCTAATTAATTAATTAAATTTTAAAAATAACAT... |
Task1_train_20524 | This variant impacts the gene IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTC... | ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTC... |
Task1_train_20525 | This variant impacts the gene IVD (isovaleryl-CoA dehydrogenase) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Isovaleryl-CoA dehydrogenase deficiency | ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTC... | ACTCATTAACTCACGTTTTTGTAAAATATTTTAAAAATGAGTTATTCATTTTTAGCATTAATGATGCTAAGAAAAAAAAACAAAACATCTGAATCCACTGATGGAATCCCGACTCAGTAGAGAGAAGGCAGTTCTGCTTGAGTATGAGTATTTTCTCCCCTGAGGTGTAACTGAAATCTGACATGGTGGAGCACTGTGGGAGAGCCAGCACAGCCATCATGTACTAACCAGACCAGGGGCATGGATTTGTTGTTTGGGGTTTTTTTTTGTTTTTTTTGTTTGTTTGTTTGTTTGTTTGTTTTGAGAAGGAGTCTTGGCTC... |
Task1_train_20526 | Consider a variant on Chromosome 15 in gene IVD (isovaleryl-CoA dehydrogenase). Determine its clinical classification and disease relevance. | Pathogenic; Isovaleryl-CoA dehydrogenase deficiency | CGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGG... | CGAACTCCTGACCTCAGGTGATCCACCTGTCTCAGCCTCCCAAAGTGCCAGGATTATAGGCCTGAGCCACCTTGCCTGGCCAGGGGCATGGATTTGATCAACAGTTAGGTTTGCTGTCTGCCTCAGCCATATACCACGCCTATCACTGACAGCCCAAAAAAGTGTACTTTAATTACAGGGAGCATCCAGGGAGGGGGAGCTGTGCAGCTCCTTCTTTGTTGACAGGAAAAAATTCAGCTAGCATTAAAGGCAGGTCAGTAGTGTCAACCTGTTTTCCTGCCCACACCTCCCAAGGCCATCCAGTCTCCTGGCTTTACTGG... |
Task1_train_20527 | The gene IVD (isovaleryl-CoA dehydrogenase) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Isovaleryl-CoA dehydrogenase deficiency | ACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGG... | ACTGCTAAGGTGAGGGCCAGCCTCAGTCGGGGAGAGGCGGGGGCAGTGGACCAGCTGCTGAGACTTGCTGTCTGCGTGCCTCGCAGGGCCCTGCTGACCCCAGCTTCCTCCCGTAGGACTGTGCAGGTGTGATTCTTTACTCAGCTGAGTGTGCCACACAGGTAGCCCTGGACGGCATTCAGTGTTTTGGTGAGTGATCCCCACTTCCCAGTCCCGGGGCTCCCTCACTCCTGGGGCCTGTGGCTGCTTCAGAAAGCAGTTTCAGGGCGGGCGTGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGG... |
Task1_train_20528 | With a mutation on Chromosome 15 in gene CHST14 (carbohydrate sulfotransferase 14), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 1 | GCCAGGGTGGCTGTAACAACTAAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCA... | GCCAGGGTGGCTGTAACAACTAAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCA... |
Task1_train_20529 | Mutation context: Chromosome 15, Gene CHST14 (carbohydrate sulfotransferase 14). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Ehlers-Danlos syndrome, musculocontractural type | AAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGC... | AAAGGAGATAATGAATATAAAACACTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGC... |
Task1_train_20530 | A genetic alteration is present in CHST14 (carbohydrate sulfotransferase 14) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Ehlers-Danlos syndrome, musculocontractural type 1 | CTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAAT... | CTTAGTGGGCGCTGTCCTCAGTACACTTGGGCTCTAATCATATTCCTCTGCTGCTTCAGAGGCTTGCTGGCTCTCTGCAGGCAGCAAGCACATAGCTGGACCAAGTCTGGCTACTGAGCCAGGTTCCCAGTGGGAAATGGTGGTTGCTGACATCCAAAGCACTTCGGGTCTGCTGTCCGCCCAAGTGACCAGCCTGGTGCCATGGAGCACACATCTAGCTCCAGGCAAGGAGACTACGTGCTGTTTCCCTGCTGTTTTGTGCCCCCAGCTCCTCACCCTTCCAAATGTGTGTTGGCCACACCAGCAGCTGATGGACCAAT... |
Task1_train_20531 | Given a variant located on Chromosome 15 and affecting KNL1 (kinetochore scaffold 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Microcephaly 4, primary, autosomal recessive | TTAACTTTTCCGTATTTTAGATTAAAGCTTTCTGCATCGAACCAAGATAAGCTGTTGGTTGATATAAATAAGAACCTGTGGGAAAAAATGAGACACTGCTCTGACAAAGAGGTACTTTTGTCTCATTTTCTGAATGAGAATCAGTGAAGACATTCTGAACGATGTTTATTGTGAAATGAGTAACTGTTACTTGGTCATAGTGATGAGTTATTTAACTTATTTTTTAAGTGTAATGTGGTACCAAGGTCTTATTTAATTACACACAATTGTTAATATATAATCTTTTCAAACCTGAGATGATCAATTTAATATATGAAATA... | TTAACTTTTCCGTATTTTAGATTAAAGCTTTCTGCATCGAACCAAGATAAGCTGTTGGTTGATATAAATAAGAACCTGTGGGAAAAAATGAGACACTGCTCTGACAAAGAGGTACTTTTGTCTCATTTTCTGAATGAGAATCAGTGAAGACATTCTGAACGATGTTTATTGTGAAATGAGTAACTGTTACTTGGTCATAGTGATGAGTTATTTAACTTATTTTTTAAGTGTAATGTGGTACCAAGGTCTTATTTAATTACACACAATTGTTAATATATAATCTTTTCAAACCTGAGATGATCAATTTAATATATGAAATA... |
Task1_train_20532 | This variant affects gene RAD51 (RAD51 recombinase) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; Fanconi anemia complementation group R | TCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCAACCTCTGCTTCCTGGGCTCAAGTGATCTTCTAGCCTCAGTCTCCCCAAGCTAGGACTATGATCATTTACCACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGTCGGGGCATCACTCATTATGTTGCCCAGGCTGGTCTCAAAATCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCTTGCCTGGCCCAATGTCAGTTTTCTTTCCCTTTTTTTTGAGACAGAGTCTCACTCTG... | TCTGTCACCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCAACCTCTGCTTCCTGGGCTCAAGTGATCTTCTAGCCTCAGTCTCCCCAAGCTAGGACTATGATCATTTACCACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGTCGGGGCATCACTCATTATGTTGCCCAGGCTGGTCTCAAAATCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCTTGAGCCACCTTGCCTGGCCCAATGTCAGTTTTCTTTCCCTTTTTTTTGAGACAGAGTCTCACTCTG... |
Task1_train_20533 | This sequence change occurs on Chromosome 15, altering RAD51 (RAD51 recombinase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Mirror movements 2 | CCACATCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCATATCAGTGTTTCTTGAGGCAGAACTAGAAGACTTGTGCAGTAAAGTACTTACACCTGTTACATCTTTTTTTTTTCACCATACATTCATGATCTAAATAGAGAAAACTTATATCTCTTCATTCTTGTTTTATTTGGTCAGGATCGTAAGGTGTAACTCTATCCTAATGCCATCTGTTTATCCTCATGACAGAATCGTGAACCTAGAACATAATCATAGCACACTGGGTTTTATGTAAACATTCTCTTTTTTTTTTTTTTTTTGAG... | CCACATCAGCCTCCCAAATTGCTGGGATTACAGGTGTGAGCCACTGCGCCCAGCCATATCAGTGTTTCTTGAGGCAGAACTAGAAGACTTGTGCAGTAAAGTACTTACACCTGTTACATCTTTTTTTTTTCACCATACATTCATGATCTAAATAGAGAAAACTTATATCTCTTCATTCTTGTTTTATTTGGTCAGGATCGTAAGGTGTAACTCTATCCTAATGCCATCTGTTTATCCTCATGACAGAATCGTGAACCTAGAACATAATCATAGCACACTGGGTTTTATGTAAACATTCTCTTTTTTTTTTTTTTTTTGAG... |
Task1_train_20534 | This variant affects gene RAD51 (RAD51 recombinase) located on Chromosome 15. Evaluate its biological effect and specify any disease association. | Pathogenic; RAD51-related disorder | TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAG... | TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAG... |
Task1_train_20535 | Assess the clinical impact of this variant on gene RAD51 (RAD51 recombinase), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Inborn genetic diseases | TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAG... | TGGTGTGCAATGGTATGATCTCGACTCACTGCAACTTCTGTCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGACCAGGCTGGTCTCCGACTCCTGACATCAGGTGATCCACCTGCCTCGGCATCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCGCACCTGGCCCTCAAAGAATAGGTTTGATTTAGGTCAGGCGTGGTGGCTCACGCCTGTAGTCCCAGTATTTTGGGAG... |
Task1_train_20536 | Given this context: Chromosome 15, gene ZFYVE19 (zinc finger FYVE-type containing 19) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Cholestasis, progressive familial intrahepatic, 9 | GTTGCAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAACAATAATAAAAAATAATAATAATAAAGAATTTAAAAAATAATAATTTGTAAACATAGAGCACTTAGAATACTATCCAGAAAAAAAAAATACTGTCTAGGACATAGTAAGCATTATACAGATGTTAGGAATTATTAATCCTAAAATATTGAAACACGAGAGAGGTGGAGCAGATGCTTTTGATGCTTCATAGACATCCCATGGCCATTTCTGATTTCAGCTGCGGCTGCAGGGGACAGATTTGTGCAGGTTG... | GTTGCAGTAAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAACAATAATAAAAAATAATAATAATAAAGAATTTAAAAAATAATAATTTGTAAACATAGAGCACTTAGAATACTATCCAGAAAAAAAAAATACTGTCTAGGACATAGTAAGCATTATACAGATGTTAGGAATTATTAATCCTAAAATATTGAAACACGAGAGAGGTGGAGCAGATGCTTTTGATGCTTCATAGACATCCCATGGCCATTTCTGATTTCAGCTGCGGCTGCAGGGGACAGATTTGTGCAGGTTG... |
Task1_train_20537 | A mutation found in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Adams-Oliver syndrome | CAAGCCCTGGCAGGGGGCAGAAGGGAGAAGGCACGCGCTGGGCACGCCCCCCCTTAGCTAGAGAGGGAGACGCCCAACAGGTGCACAGAGAGGGCCCCGAGCCTTAGACCCTTAGCCCCTAGCCTTGCTCAGAGTGGCCACAGAGAGGTTAACGCTTCTGCTGGCTTCCCTGCTGCGCTGGGGACGCGTGGTGGGTGGGCACTCATAGGTTGGGGGCCGTTGAGACAAGGGCTCCAGAAGCTCCAGGAAGGAAAAGGAGATCGGATTTCCCTAGCGCTGGTTTTTGCATTCCGGGCTTAAGTTCTTTTTACCTGCTTTGG... | CAAGCCCTGGCAGGGGGCAGAAGGGAGAAGGCACGCGCTGGGCACGCCCCCCCTTAGCTAGAGAGGGAGACGCCCAACAGGTGCACAGAGAGGGCCCCGAGCCTTAGACCCTTAGCCCCTAGCCTTGCTCAGAGTGGCCACAGAGAGGTTAACGCTTCTGCTGGCTTCCCTGCTGCGCTGGGGACGCGTGGTGGGTGGGCACTCATAGGTTGGGGGCCGTTGAGACAAGGGCTCCAGAAGCTCCAGGAAGGAAAAGGAGATCGGATTTCCCTAGCGCTGGTTTTTGCATTCCGGGCTTAAGTTCTTTTTACCTGCTTTGG... |
Task1_train_20538 | Located on Chromosome 15, this mutation impacts DLL4 (delta like canonical Notch ligand 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Adams-Oliver syndrome | GCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCC... | GCGAACAGAGCCAGATTGAGGGCCCGCGGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCC... |
Task1_train_20539 | A sequence alteration has been identified in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Adams-Oliver syndrome | GGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTG... | GGGTGGAGAGAGCGACGCCCGAGGGGATGGCGGCAGCGTCCCGGAGCGCCTCTGGCTGGGCGCTACTGCTGCTGGTGGCACTTTGGCAGCAGGTAACACGTCCCGCGCCCTCTCCGTCCCCTCTGCCGCGCTCTGGGCCTCAGCCCCGGGCACCAGCTGAGCTGACCGGTCCCCTCCCTCCTTCCCTCGGTCCCTGTGCAATAGCGCGCGGCCGGCTCCGGCGTCTTCCAGCTGCAGCTGCAGGAGTTCATCAACGAGCGCGGCGTACTGGCCAGTGGGCGGCCTTGCGAGCCCGGCTGCCGGACTTTCTTCCGCGTCTG... |
Task1_train_20540 | Consider a variant on Chromosome 15 in gene DLL4 (delta like canonical Notch ligand 4). Determine its clinical classification and disease relevance. | Pathogenic; Adams-Oliver syndrome | TCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCA... | TCTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCA... |
Task1_train_20541 | Given this variant in gene DLL4 (delta like canonical Notch ligand 4) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Adams-Oliver syndrome | CTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCAT... | CTCTACCTGGTGTTTAGGGGTAGTCACTCTCTGGCTATACAGGGGCCTTTCAGCCCCAACCTTGGGGGAGGAGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCAT... |
Task1_train_20542 | Gene DLL4 (delta like canonical Notch ligand 4), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTG... | AGGAAGCCTTTTTTCTTGCATCCTGCTAGCCAGCTGCAGCCAGCTGCAGCTCCCATTTTCAGGATCAAATGGGTGCACCTGCTGCCCAGAGACACCGGCGCAGGCCTGGGTAGGGTGGGCAGAGAGCTTGCCAGGGTGGAAAGAAATTGCCTAGGCCCTGACTTGCTGTCAACAAGGGGCTTGGGATTCAGTCCCTGTGTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCCCTTTACTACCATCCCCACCCCAACACTCACACACCTGGTTCCTGCTCATTCTCTTCCCTCTCCACCATATTTGCTCCCAGGTG... |
Task1_train_20543 | This alteration in DLL4 (delta like canonical Notch ligand 4) on Chromosome 15 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Adams-Oliver syndrome 6 | CCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACC... | CCGGAAGGCGAAGGTTGTAGTGAGCCTATATCACATCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACC... |
Task1_train_20544 | A genomic change on Chromosome 15 affects DLL4 (delta like canonical Notch ligand 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Adams-Oliver syndrome | CGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACAC... | CGACAGAGTGAGACTCTGTTAAAAAAAAAAAAAAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACAC... |
Task1_train_20545 | Here’s a variant in DLL4 (delta like canonical Notch ligand 4) located on Chromosome 15. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Adams-Oliver syndrome 6 | AAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGG... | AAAAGAAGGAAAGAAAGAGAAAGAGAGAGAAAGAAAGAAAGAAAGAGAAAGAAAAAAGATTTTATTGGTGGTGGAGGAAGGATGTTTGGGCCTGGGAGACTTTGAGTTGAGGTGTCTTTGAGCCAAACATGGGGGCAAACATGGACTGCAAGGAGCCTGGAGGTGAGTGCATTCCCTGGCCCTGCTCAGCTGCTTGGTTCCTGTTTCTGCAGATCTCAACTACTGCACCCACCACTCCCCATGCAAGAATGGGGCAACGTGCTCCAACAGTGGGCAGCGAAGCTACACCTGCACCTGTCGCCCAGGCTACACTGGTGTGG... |
Task1_train_20546 | This is a variant in NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 11 | CCTGGACCAGGGTGGGAGTAGAAGAGATGGCTAGAAATGGTCAGCTGCTGAGTGTATTTTGGAAGCAGAGGTGACAGGACTCGCTAATAGACTGGATGTGGGGCAAAGGAGAAGAATTCAGGATGACCCTCAAGTATATGACATGAGCAAAATGGGGACTTTCTTGTTGAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCAGCTTACTGCAACCTCCACCTCCCAAGTTCAAGCAATCCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGCA... | CCTGGACCAGGGTGGGAGTAGAAGAGATGGCTAGAAATGGTCAGCTGCTGAGTGTATTTTGGAAGCAGAGGTGACAGGACTCGCTAATAGACTGGATGTGGGGCAAAGGAGAAGAATTCAGGATGACCCTCAAGTATATGACATGAGCAAAATGGGGACTTTCTTGTTGAGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGGTCTCAGCTTACTGCAACCTCCACCTCCCAAGTTCAAGCAATCCTCCTGCCTCAGCCCCCCTAGTAGCTGGGATTACAGGCA... |
Task1_train_20547 | Mutation context: Chromosome 15, Gene NDUFAF1 (NADH:ubiquinone oxidoreductase complex assembly factor 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCT... | GACCAATCGTAAGACATCTTCCTCTCAAAAGCACCCTAAGATATTGAAAGTAAAGTTCATTGTACCTCATTCTCCATTATTAGCAAAATGTGAGTCATCACCAAGTCAGCATCATCAACAGGATGCACTAACCATTTTTCTGACTTTCTGCCCCATAAGAAGGCACATAAACCCAGTGATTATTATTTTAGCACAAAATACTGACATAGTTATATGTTTCTAAGGTAATGTTCAACACACAACTGGCCCAGGACAGTGTTTACATGGGGTAGGCACTCACCTGTGTTCAATGAATGGAAATGAATGTATTTCCTTTACCT... |
Task1_train_20548 | A mutation on Chromosome 15 affecting MAPKBP1 (mitogen-activated protein kinase binding protein 1) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Nephronophthisis 20 | GAGTTTGAATGTTACAGGCTTCCCCAGTGTGCCCCATCCTTAGTTTTGCCTCGGTCATCTTGGACAAGTTATTGAATTTGACCAAGCCTCAGTTTCCTCACCTGTAAAATGGTGTACTTGATTCACCTAATTGTTCTAAGAATAAAATGAAATAATGTAAGTGGGAGACATAGAAGAGTGCCTGATATATAGTGGGTGCTTCCCCTTGGTCATGTTGAAGGGTATATACCAGTTATGTATGGCCTGTGACAGGCACTGGGCTAAGTCCTGGCCACCATTCCCTTTTTCGTCCCATTCCCTTCCATCTCCTTGGGTAGGCA... | GAGTTTGAATGTTACAGGCTTCCCCAGTGTGCCCCATCCTTAGTTTTGCCTCGGTCATCTTGGACAAGTTATTGAATTTGACCAAGCCTCAGTTTCCTCACCTGTAAAATGGTGTACTTGATTCACCTAATTGTTCTAAGAATAAAATGAAATAATGTAAGTGGGAGACATAGAAGAGTGCCTGATATATAGTGGGTGCTTCCCCTTGGTCATGTTGAAGGGTATATACCAGTTATGTATGGCCTGTGACAGGCACTGGGCTAAGTCCTGGCCACCATTCCCTTTTTCGTCCCATTCCCTTCCATCTCCTTGGGTAGGCA... |
Task1_train_20549 | Here is a genetic alteration in CAPN3 (calpain 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CAAAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACT... | CAAAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACT... |
Task1_train_20550 | This mutation is located in gene CAPN3 (calpain 3) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | AAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTC... | AAACCTAATAACAGAATGACTGTAATTGTACCTATTTTATAGGTGAGAAATCTGAGACAGAAAGGAAGAAATAACTCACCTAAAGTTACACAGGCACAGCCAATAAGGGGCCAACCTAGACTTTGAACCGAGGTGGTCAGTCACCAGAGACCACTGTCCTCTATTCTGCCTCTCCAAGACTAGTAAAAAGCCCTGGGCATTTTCTTGGAGGGACAGATGGCTAGGCTGATGGTTCCTGCAAGCCCAGACATAGAGTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTC... |
Task1_train_20551 | A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTC... | GTCCTTCAAAGCCGCAATCCCAGGGATCAGGAGGCTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTC... |
Task1_train_20552 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGA... | CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGA... |
Task1_train_20553 | A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGA... | CTGATAGTACTCCCTATTTTACCTGTCACTTCCCACCTTCTTCCATAGCCTCTAATCTTGGATTATTGAGACTGGTCGCATGGGAACAGGCATGACTGCAGCCTAGGACATGCCTCCACTCTGCCATACTTGAAATGTGCTCATCTCCTTACAGCCCAGGGAGCAGCTATTGTGGGTAGAAGACAAGGTGGAGGCCAGGCAGGCACTTCCCTTCCCCAGAGCCACTTATGCTCTCATCTAAGAGCCCTGAAACCAGGTGTGACATCCCAGGAGTTGACAGACAGTCTGGTTCAGTATCTAATTCCAACTTCTGTCTCAGA... |
Task1_train_20554 | A mutation found in LOC126862115, CAPN3 (BRD4-independent group 4 enhancer GRCh37_chr15:42677734-42678933| calpain 3) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | TAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCT... | TAATAGCTACTGCGGCCGGGCGCGGTGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAAGAGATGGAGACCATCCTGGCCAACATGGTGAAACCGTATCTCTACTAAAGATACAAAAATTAGCTGGGCATGGTGGCGCATGCCTATAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCACTTGAACCCCGGAGGCAGAGGTTTCAGTGAGCCAAGATTGCACCAGTGCACTGCAGCCTGGCGACAGAGTGAGACTCCGTCTCAAAAAAATACCTATCTATCTATCTGTCT... |
Task1_train_20555 | This mutation occurs in CAPN3 (calpain 3) on Chromosome 15. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... |
Task1_train_20556 | This variant lies on Chromosome 15 and affects the gene CAPN3 (calpain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... |
Task1_train_20557 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... |
Task1_train_20558 | A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... | GGGTCTTGCACCTCAGCACGGAAGGCCTCAGAAAAGGTCTGTCTCCAGGCTCAGACTCCCCCTCCTGCCGCCTTGGGAACATGGCATATTTAAAGGGTCTCAGATCTAAAGGGCCTTACATACAAATATCAGATAGATTTCTGTTCTCATTTCAATGAGGGAGAAAGTGCCATTGAAAAGGAGACTAAACCACATTTGGCCCTTTTCAGTTCAAACTGATTCATTCAAAAAAGAGCGACATCCAAACTTGAAATGATTGAACAATGTTCCTGCTACAGCTAGAATAGATTCTGGGTCACTTTGTTCCTCCGTTTCAATCC... |
Task1_train_20559 | This variant lies on Chromosome 15 and affects the gene CAPN3 (calpain 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | ACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTCTTCACAGAGCCCGGAAAATGAACTAGTATGAACTTTGCC... | ACCCTGGATGGCTTCAGGGGAAGGGGGATCCTGAAGCCCAGGGCAGCCTCCAACTCTACCCCTTCCTCCTTTGAAGGATACTAAGGGGTCCAGAAAGGAGGGGCAGGACACTGTTACCCACCCCACATCCCAGCATCCACATTGCTCTCTGATGGTCAGGACAGAGCCTTCTCAGGGAGACCAGCCTGTCTGGAGCTGTGTCTCTTGGCACTCTTAAAGGGCCACTGAAGGTCCGTTCGTGGTCGTGAGGCACACTTTCAGGGAGCAGAGTGGTCTGTGTCTTCACAGAGCCCGGAAAATGAACTAGTATGAACTTTGCC... |
Task1_train_20560 | An alteration has been detected in CAPN3 (calpain 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | GGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTG... | GGGAGGCAGAGGTTACAGTGAGCCCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTG... |
Task1_train_20561 | An alteration has been detected in CAPN3 (calpain 3) on Chromosome 15. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... |
Task1_train_20562 | This genomic variant is located on Chromosome 15, within the CAPN3 (calpain 3) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... |
Task1_train_20563 | A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... |
Task1_train_20564 | A genetic alteration is present in CAPN3 (calpain 3) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... | CCAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTA... |
Task1_train_20565 | This alteration occurs within gene CAPN3 (calpain 3) located on Chromosome 15. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20566 | Given a variant located on Chromosome 15 and affecting CAPN3 (calpain 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20567 | The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20568 | Gene CAPN3 (calpain 3) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20569 | The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Abnormality of the musculature | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20570 | A sequence alteration has been identified in CAPN3 (calpain 3) on Chromosome 15. Is it disease-inducing or harmless? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20571 | A mutation on Chromosome 15 affecting CAPN3 (calpain 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... | CAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAGAGAGACTCTGTCTTGGAAAAAAAAAAAAAAATGTTGTCTTAGTATAATGTCAAGGGAAAGGTTTTTTGTGTTTTTATTACTTTATTTTTTATTTAAAAACTATAATAGAGACGGGCCTCGCTATATTTCTCGGGCTGGTCTCAAACTCCTGGGCTCAAGCGGTCCTCCCACCTTGGCCTCCCAAAATGCTGGCATGTGGGCCTGGTCAACATATGGGACCCCAACTCTACAAAAAATTTTAAAATTAGCCAGATGTGGTGGCGTGTGCCTGTAGTCCCAGCTAC... |
Task1_train_20572 | Given this context: Chromosome 15, gene CAPN3, LOC130056921 (calpain 3| ATAC-STARR-seq lymphoblastoid active region 9300) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAAT... | GAGGGCCGCTGGGTACGGGGTTGCTCTGCCGGAGGCTGCCGCAACTTCCCAGGTGGGAGATGCTCTTGATGGGGGGAGGGTCTAAGCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAAT... |
Task1_train_20573 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... |
Task1_train_20574 | Given a variant located on Chromosome 15 and affecting CAPN3 (calpain 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... |
Task1_train_20575 | Assess the clinical impact of this variant on gene CAPN3 (calpain 3), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... | GCCGAAAAAGTTCCAGGCAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACAC... |
Task1_train_20576 | Consider a variant on Chromosome 15 in gene CAPN3 (calpain 3). Determine its clinical classification and disease relevance. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... |
Task1_train_20577 | A variant has been detected on Chromosome 15 in CAPN3 (calpain 3). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... |
Task1_train_20578 | A variant was discovered in gene CAPN3 (calpain 3), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... |
Task1_train_20579 | Consider a variant on Chromosome 15 in gene CAPN3 (calpain 3). Determine its clinical classification and disease relevance. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... | CAGAAGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGT... |
Task1_train_20580 | A variant on Chromosome 15 in gene CAPN3 (calpain 3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGG... | AGAAGCCTAACTAGTGCTTATTAAGTCTCTCTGTTCCAGACGTCCACTATCTTATTAAACCTTCCCTGTTTTACTGAGAAGGAAACCACCATGCTGAGAAGTTTGCAATAGGGAGCTGGTAGCAACTTTGAAGCAGGAAACTGTGGGAACAATGCAGATGCTGCTTGACTTACGATGAGGTTATGTCCAGATAAGCCCATCCATCTTTGAAAATACCCTAAGTGAAAAGTGCATTCAATATGCCTAACCCACCAAACATCATAGCTTAGCCTGGCCTACCTTAAACATGCTCGGAACACTGACCTTAGCCTAAAGTTGGG... |
Task1_train_20581 | This variant impacts the gene CAPN3 (calpain 3) on Chromosome 15. Is the change likely to result in a pathogenic outcome? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | TTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCC... | TTAATACTGTACTAAAAGTGAAAAACAGAATGGTTGTACGGGTACTCGAAATCCAGTTTCTACTGAATGTGCATCTCTTTCACATTGTAAAGTTAAAAAATTGTAGCCGAACCATCCTAAGTCAGGGACTGTGAGTACTGTGTCAGTAACAGTAAGGGCACTATTGGAGAACCAAGTTAGCAGCTGCTGCAATAGTTCAAGTCAGAGATGATGAAAACCTAGACCAAGTCAGTAGCAGCAGAGATGGAGGGGAGACAGCAGATTTAGGGAGAGCATATTGGGTGATGTAGGGAAGGAAGAAGAATGATGTCAAGATTCCC... |
Task1_train_20582 | Gene CAPN3 (calpain 3) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... |
Task1_train_20583 | The following genetic variant occurs in CAPN3 (calpain 3) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; CAPN3-related disorder | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... |
Task1_train_20584 | This gene mutation involves CAPN3 (calpain 3) on Chromosome 15. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... |
Task1_train_20585 | Mutation context: Chromosome 15, Gene CAPN3 (calpain 3). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... | AAGAGGCCAGACGTGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGA... |
Task1_train_20586 | The gene CAPN3 (calpain 3) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Abnormality of the musculature | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... |
Task1_train_20587 | The gene CAPN3 (calpain 3) on Chromosome 15 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... |
Task1_train_20588 | A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... |
Task1_train_20589 | Gene CAPN3 (calpain 3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... |
Task1_train_20590 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... | GTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCA... |
Task1_train_20591 | This sequence variant lies in CAPN3 (calpain 3) on Chromosome 15. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... |
Task1_train_20592 | This is a variant in CAPN3 (calpain 3), located on Chromosome 15. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... |
Task1_train_20593 | A mutation in CAPN3 (calpain 3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... |
Task1_train_20594 | Here is a mutation in CAPN3 (calpain 3) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... |
Task1_train_20595 | Here is a genetic alteration in CAPN3 (calpain 3) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... | TGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACTTGTGGTCAGGAGTTCGAGACCAGCTTGGCTAACATGGTGAAAACCCATCTCTACTAAAGATACAAAAATTAACCGGGGATGATGGTGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTCAGTCAGAAGAATCGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCTAGCCTGGGCAACAGAGCCAGACTCCGTCTCAAAAAAAAAAAAGTGAGAGAGATTGAGGCTGGGATATATGGCTCAGGCAT... |
Task1_train_20596 | A variant was discovered in gene CAPN3 (calpain 3), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | GCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTC... | GCAAAGGCTGAGACAGAACCAGCTTGAGAGCGGAGGCGCAACTCTTGTCTCCTGGTGGCCTTGAGCATTTCACAATAGGGGGATAAAGGATAGGAGCAGAAAAGTGGGGCTGACTTCAGAAATGGGGTCCTCTAGAGCTCACGGGAGGGTGTTAGATTGGAGTGGGAGCTTAGTGGAGGTGAGCCTTAGAGGCAAAAGTCTCCAGACCAATCCAGGGCCCCTCTTCTATCCGGGGGCCCCTCTTCTATCCAGGGCCCCTCTTCTGTCTGGGAGCCCCTCTTCTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTC... |
Task1_train_20597 | This sequence change occurs on Chromosome 15, altering CAPN3 (calpain 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2A | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... |
Task1_train_20598 | Located on Chromosome 15, this mutation impacts CAPN3 (calpain 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Abnormality of the musculature | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... |
Task1_train_20599 | This sequence change occurs on Chromosome 15, altering CAPN3 (calpain 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Muscular dystrophy, limb-girdle, autosomal dominant 4 | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... | CTATCTGGGGCCTCATGCAGTGGGGCCTAGGGGAGGTTCTCTGAGGACTTGGCCTTGATGACAGGGTGGCTGGAGGAATCAGAACGGTCAGACCTTCTTTGACCTGCGGGCACCTTTAGTTGGAATGGTCAGGCCTGGGATGGTGGAGGGGGCTCTTGCAGGTGGGGACTGGGGTGGCGGGGAGGAGGCTGTATGGCCGCCATATCTCCTTTGGCTGGGGGCGTCAGGGCTGGAGAGGTGTGAAGAGTCCCTGAGGCCTCGATGCATCTCACTCCAGCTCACCAGGTCTGCATTTGCCCGTCCCCAGCTCCTGCTGCCAC... |
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