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 |
|---|---|---|---|---|
Task1_train_22100 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lymphangiomyomatosis | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... | AGCTCGTGTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCC... |
Task1_train_22101 | With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Tuberous sclerosis 2 | GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGG... | GTGTTTTATGTATTCTGTGTTTTTACAGTGAAGTAAGCTAGAGAAAAGCAAATGCTGTTAAGATGCTAGGCATGGTGACTCACGCCTGTAATCCTGGCAGTTTGGGAGGCCGAGGCGGGCAGATCATGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGATGCGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGACCTGAGATCGTGCCATAGCACTCCAGCCTGG... |
Task1_train_22102 | Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Tuberous sclerosis 2 | CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTA... | CATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTA... |
Task1_train_22103 | A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Tuberous sclerosis 2 | ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAA... | ATGCACCACCACACCTGGCTAATTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAA... |
Task1_train_22104 | A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tuberous sclerosis 2 | GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCA... | GACTGCCCTGATGATGAGATGGGCACGAGGTTGGGTTTTACTTTTTGCTGCTGTGGAGAGAGAGTCCTGGTGGTCCTGGGTTTGAAGGTCGTGTGTTTTGAAGCACGCACTCTAGAGCAGCCGCCCCGGCCCCTGCTCCGGGACAAGGGTGCTGTCTTAGGACTGCGTTTTCACCTCCTGCGCCGTGGTGAGCTGCGTCCTCTCTCTGCAGACCAAGCTGTACACCCTGCCTGCAAGCCACGCCACGCGTGTGTATGAGATGCTGGTCAGCCACATTCAGCTCCACTACAAGCACAGCTACACCCTGCCAATCGCGAGCA... |
Task1_train_22105 | A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCA... | GCCCCACAGGCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCA... |
Task1_train_22106 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCC... | GCATTCAGGGACTTGCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCC... |
Task1_train_22107 | A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; not provided | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22108 | The gene TSC2 (TSC complex subunit 2), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Tuberous sclerosis 2 | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22109 | This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Tuberous sclerosis 2 | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22110 | Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Isolated focal cortical dysplasia type II | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22111 | A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Lymphangiomyomatosis | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22112 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hereditary cancer-predisposing syndrome | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22113 | Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tuberous sclerosis syndrome | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... | GCTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGC... |
Task1_train_22114 | This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22115 | This mutation is located in gene TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Isolated focal cortical dysplasia type II | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22116 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Lymphangiomyomatosis | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22117 | Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Tuberous sclerosis 2 | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22118 | A genomic change on Chromosome 16 affects TSC2 (TSC complex subunit 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Tuberous sclerosis syndrome | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22119 | Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; TSC2-related disorder | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22120 | Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tuberous sclerosis 2 | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... | CTAAGCCTCGGCTGTTCTCCCGGTGGAGCACTCGAGGTTGGCGAGGGGTAGGCGAGGCTGCCTCTGCTGCAAGCGGGTGGGGCCTGAGGTGTCCTGTCTCCTGCAGCGCGAGATGGTCTACTGCCTGGAGCAGGGCCTCATCCACCGCTGTGCCAGCCAGTGCGTCGTGGCCTTGTCCATCTGCAGCGTGGAGATGCCTGACATCATCATCAAGGCGCTGCCTGTTCTGGTGGTGAAGCTCACGCACATCTCAGCCACAGCCAGCATGGCCGTCCCACTGCTGGAGTTCCTGTCCAGTGAGTCCCCGCCCTGCCTGCGCA... |
Task1_train_22121 | This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Tuberous sclerosis 2 | GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATC... | GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATC... |
Task1_train_22122 | An alteration has been detected in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Tuberous sclerosis 2 | GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATC... | GCCAGAGACTACTTTCTGGGGTCTTGGTCTCTTTTCCTAGTGACCTTCAGGGCCTGGCCACTGAGGCCTCAGTGCCGCCTCGGTCAGAGCTGGGCGGTGCCTGCCTTCCGCGGGTGGGTGGGATTGCCTGGCCAGCACAGCCTGGAATCTGCCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATC... |
Task1_train_22123 | A variant found in Chromosome 16 affects TSC2 (TSC complex subunit 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Tuberous sclerosis 2 | CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCC... | CCGTGGGGGTGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCC... |
Task1_train_22124 | Here is a genetic alteration in TSC2 (TSC complex subunit 2) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Tuberous sclerosis 2 | TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGG... | TGACCCACACACGTTTAATTTGCACTGACGTTGTTTGTTTTGGTGTCATGCGTGAAGCCTTACTTGTTCTCAGTCATGTTTACCAGACGTATTATCATGCATTTTTGTTTTCTGTCTCTTCCCCGCTAACTGCCCTTTGGCATGGCTCTTTTTGCTCATCTCACCCGCGGGATCTCTCCATCCTGACCCTGTGGCCTGGGACCTTTCCTCCTCACCCCTCCACTGGCTTGTTCTCCCCTTCCCGGGAGCTGGGCTCTCTGGGGCGTTGGGGCTCCTTCCTCACCCGATAGTCTGAGGATAGCCAGACCCCCCAAACAAGG... |
Task1_train_22125 | A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Tuberous sclerosis 2 | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22126 | A variant on Chromosome 16 in gene TSC2 (TSC complex subunit 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Lymphangiomyomatosis | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22127 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Isolated focal cortical dysplasia type II | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22128 | Assess the clinical impact of this variant on gene TSC2 (TSC complex subunit 2), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Tuberous sclerosis 2 | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22129 | This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary cancer-predisposing syndrome | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22130 | Mutation context: Chromosome 16, Gene TSC2 (TSC complex subunit 2). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Tuberous sclerosis syndrome | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... | CACTGGCAGAGGGGATACCTGTCTCCTCCTGGAAGCCCGTTGCAGGCCAAGGGGTCCCATGGCCCTCAGTCCATCCACCTCCTCACCTCAGGCCGGCCTCTGCTGGGTGGGACTTGGCCAGGGGTTGGGGTGGTAGAGGTGCTCGGTGAGGCTTAAAGCCATTTTCTAGCACATTCTGTATCATGAGCAAAATATTGCCTAGGGGCTATGAAATTTGTATCAGAATGAACTCCCATAAGCCTCTTCCCTGTCACTGGGTGTGGAGCTCAGGCAGCCGCTCGCCTGCCTGAGGGTGACGGTGGAAGGCCACATGGGGATCC... |
Task1_train_22131 | The gene TSC2 (TSC complex subunit 2) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Tuberous sclerosis 2 | CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGT... | CCTCCTGCTGACGTGGCCGCACACGGCCTTCCCTTGCAGTGGCCTCTTTCTCCTCCCTGTACCAGTCCAGCTGCCAAGGACAGCTGCACAGGAGCGTTTCCTGGGCAGGTATCGCCTCTCAGAGGGAAGCGGTTGGCTGCAGAGCGCCACTCTGCCTCATAGGTGCTGTGCTCGTCGCCTCATCCGCCCACCCCCATGGTCCGTCTGCCTCCATTGCCCTGGGGAGCAGGTCCCGACTCGCATGAGGACGTCTGTGCAGAATGTCTTTGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGT... |
Task1_train_22132 | A change on Chromosome 16 affects gene TSC2 (TSC complex subunit 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... |
Task1_train_22133 | With a mutation on Chromosome 16 in gene TSC2 (TSC complex subunit 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Tuberous sclerosis 2 | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... |
Task1_train_22134 | Here is a mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Tuberous sclerosis 2 | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... | TGGCTTGGCCAGCGGGATCCCCTTGACTTGGTCCCTTTGTGGCTGAGCCCTGTTCCCACGCTGTGCGAGCACTCCCGGCCCAGCTTCAGGCCTGAGGGGTGGGGGTGGCCTGAGTCTCCATGGTGACATCAGCTGAGCTGCAGACTCTGATGGGTGGCAGCTGTTTAGGGGGAAGCCCACCCCTGGGCCTGCACCGAGCGGGCCTTGCCCTGGCCTTTGGTGGCTCCCCTGGCCTCTGGAACCCACAGATGGGGCTGCCTCAAGTCCCAGGTTGACCAGGGGCCCTGCAGACCGACCTCTGCCTGTTGCCCCCAAGCCCT... |
Task1_train_22135 | This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Tuberous sclerosis 2 | AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGC... | AGCAGTCTGTTTGCAAACAGGGACTTCCCCCACGTCACGGAGTCTCCGCAGCTCTCCTCGGTTACGAGGGCTGGTTTCAGGCTCCCGCTCTTTTAGAGCTGAGGCCCGTCGGGCGGAGAGCGTCTTGCCCCTGCCTACCTGGAGGCACAGGGGTGGCTGCTGGTGGACACTAGGGTGGGCAGAGCCGATTGCCTGCCCAACCCCCGGGCACTCATGCAGGAGAGGCCTGTGTCGGGGTCACGTGCAGGCCTTCCCAGCGTCCTCCCTGCCCGCTCGGTGGATGGCAGCAGTAAGCAGAGCCCTGGGGAGGCTCGCAGGGC... |
Task1_train_22136 | This genomic variant is located on Chromosome 16, within the TSC2 (TSC complex subunit 2) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Tuberous sclerosis 2 | GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTG... | GCTGACAGGGGTTCTCTTTGGGATGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTG... |
Task1_train_22137 | The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tuberous sclerosis 2 | TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTC... | TGGTCCTTTCTAGTCGTCCTCAGTCTCCAGCCAGGAGGAGAAGTCGCTCCACGCGGAGGAGCTGGTTGGCAGGGGCATCCCCATCGAGCGAGTCGTCTCCTCGGAGGGTGGCCGGCCCTCTGTGGACCTCTCCTTCCAGCCCTCGCAGCCCCTGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAGGACATCCTCGGGGACCCTGGGGACAAGGCCGACGTGGGCCGGCTGAGCCCTGAGGTTAAGGCCCGGTCACAGTCAGGGACCCTGGACGGGGAAAGTGCTGCCTGGTCGGCCTCGGGCGAAGACAGTC... |
Task1_train_22138 | Given this variant in gene TSC2 (TSC complex subunit 2) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Tuberous sclerosis 2 | GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATC... | GAAAGTGCCAGGCATCAACCCCAGGTGGGCCTCTTGCTTCCGGGCGGGGCTCCTGACACCTCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATC... |
Task1_train_22139 | This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Tuberous sclerosis 2 | TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCT... | TCTCCTGCGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCT... |
Task1_train_22140 | Given this context: Chromosome 16, gene TSC2 (TSC complex subunit 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hereditary cancer-predisposing syndrome | CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGA... | CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGA... |
Task1_train_22141 | This variant lies on Chromosome 16 and affects the gene TSC2 (TSC complex subunit 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Tuberous sclerosis 2 | CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGA... | CGGGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGA... |
Task1_train_22142 | Gene TSC2 (TSC complex subunit 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAAT... | GGAACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAAT... |
Task1_train_22143 | This gene mutation involves TSC2 (TSC complex subunit 2) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Tuberous sclerosis 2 | ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGT... | ACCTGGTGCCTCACTTGCCCCAGGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGT... |
Task1_train_22144 | This sequence change occurs on Chromosome 16, altering TSC2 (TSC complex subunit 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Hereditary cancer-predisposing syndrome | GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTG... | GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTG... |
Task1_train_22145 | A mutation in TSC2 (TSC complex subunit 2), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Tuberous sclerosis 2 | GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTG... | GGCCGAGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTG... |
Task1_train_22146 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGC... | AGCGGGCTGGGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGC... |
Task1_train_22147 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTG... | GGGTGGGGTCCTCGCCTGTGCCCTAGGGCTGGCTGGAACCCCTGGGAGGGCGGTGGAGTGGGAGATGGCCAGGCTCTGTGTTCCTCCCTGTGGGCTGTGGCTGCCCTGGCCAGGCCCTCACCTGGGTGCCCACCATCCCCTCCCTGTGCAGTTTCGTGTTCCTGCAGCTCTACCATTCCCCCTTCTTTGGCGACGAGTCAAACAAGCCAATCCTGCTGCCCAATGAGGTAGGCGTGGCCTCCCTCTCCTGCATCCGCTGGAGCTGTGTGGCTCGGGTGAATGGTGGGGGGCCCAGCTCTGCTGCTGGGAGCTCAGGCTTG... |
Task1_train_22148 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGA... | AGTCTCAGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGA... |
Task1_train_22149 | Here is a variant affecting TSC2 (TSC complex subunit 2) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Tuberous sclerosis 2 | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... |
Task1_train_22150 | This mutation occurs in TSC2 (TSC complex subunit 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... |
Task1_train_22151 | This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Tuberous sclerosis 2 | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... |
Task1_train_22152 | The variant affects gene TSC2 (TSC complex subunit 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Isolated focal cortical dysplasia type II | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... |
Task1_train_22153 | Consider this mutation in TSC2 (TSC complex subunit 2) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; Lymphangiomyomatosis | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... | AGTGAGTCCCTCCTGCTGTGTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCAC... |
Task1_train_22154 | A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; Hereditary cancer-predisposing syndrome | GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCC... | GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCC... |
Task1_train_22155 | This variant affects the gene TSC2 (TSC complex subunit 2) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCC... | GTGGCTCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCC... |
Task1_train_22156 | The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tuberous sclerosis 2 | TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAG... | TCGAGGAGGTGGGTGGTGATGGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAG... |
Task1_train_22157 | A variant affecting Chromosome 16, within the gene TSC2 (TSC complex subunit 2), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Tuberous sclerosis 2 | GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCAT... | GGTTCCCGTGGGAGTGGGGTAGGCCCCTGGGGGCAGGCTGCTGAGGGGCCAGGGCCCCGGGTGTGCTTTGAGTGTGGAGCTCCCTGATTTTGCCGGCCAGGCACACACGGGGCTGAGGGAAGAGAGGGAGTCAAGGATGACACCCGATGTCTGGCCTGGGTGGCTGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCAT... |
Task1_train_22158 | Given a variant located on Chromosome 16 and affecting TSC2 (TSC complex subunit 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGC... | TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGC... |
Task1_train_22159 | A mutation found in TSC2 (TSC complex subunit 2) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Tuberous sclerosis 2 | TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGC... | TGCTGGAATGGATGGTCTTGTCTGCCTCAGGGATCAGAGTGGGGCTCCCGGCAGAGCCTGCTGGGCACCCCCACCCTCTGCGGGGCAGGGCCCGGCCCGGGAGTGATGCCACCCTGCCTCTCCCCTCTCCCCACAGAGCAACAGCGAGCTCGCCATCCTGTCCAATGAGCATGGCTCCTACAGGTACACGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGC... |
Task1_train_22160 | This variant affects gene TSC2 (TSC complex subunit 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Lymphangiomyomatosis | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22161 | A variant was discovered in gene TSC2 (TSC complex subunit 2), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Tuberous sclerosis 2 | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22162 | A variant was discovered on Chromosome 16, affecting TSC2 (TSC complex subunit 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Isolated focal cortical dysplasia type II | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22163 | This alteration in TSC2 (TSC complex subunit 2) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary cancer-predisposing syndrome | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22164 | The gene TSC2 (TSC complex subunit 2) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Tuberous sclerosis 2 | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22165 | A sequence alteration has been identified in TSC2 (TSC complex subunit 2) on Chromosome 16. Is it disease-inducing or harmless? | Pathogenic; TSC2-related disorder | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... | CGGAGTTCCTGACGGGCCTGGGCCGGCTCATCGAGCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCCTGGACGTGTGTGGTGAGGACGGCCAGTTCACCTACTGCTGGCACGATGACATCATGCAAGGTACGGCCTGGCGCCTACCCGCTCCTGCTGCCCCAGGCCTCAGGGCACGGCTCCCATCCAGTCCTGCTACCCCACGCCCTGGGGCATGGCCCTGGCACCCCCACCTGCTCCAGCTCCCCACGCCTCAGGTTCCGAGCCTAACAGCGTGGGCATGGAGGCAGTGATGGGGCTGGTGGCTTTGCGTC... |
Task1_train_22166 | Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Polycystic kidney disease, adult type | CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCA... | CCCAAGGCCAAGCTCGCATCCAAGCAGCAGCCGGGCTGCCATAACGCCACCACACCTACCAAGCGCAGCAGGTGTTGGGGGAGGCCAGCTCTGGGCGCAGGCCCCTCAGCCCTAGTGAAAATAGTGACATACAAAAATATACACATTTTAACACCATATAAATTACTGACACGAGACACACAGTGAGACGGTGCAGGGAGTACGGTAGGAACTGGAGAGGTAATAACTTAGGGGCAGGGTGGCGGCGGTGCAGGCTAACCCTCCCTGAAGCCAGCAGCCTTAGCAGTGGGGGACATCTGCCCAGGGGGTGGGGCCGGGCA... |
Task1_train_22167 | This variant lies on Chromosome 16 and affects the gene PKD1-AS1, PKD1 (PKD1 antisense RNA 1| polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Polycystic kidney disease, adult type | CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTT... | CAGCCGCAGTGCCCAGAGCCCCACACACAGCAGGGGTGACAGGTGCCAGGACTCGGCAGGACACAGGGTAGAGAGCCCAGTCCCAGGGCACAGCACCAACAGGGCCTGGGCCACGCTCCAGAGGGAGTCCACACAGGAAGACACGAGCTGCGGGGAAGGCGACACCAGTGAGGGCGTACAGCTGAGCTGAGCTGAGCTAAGACGCCCTCCCCGGCCGCGCAGTCACCTACCAGGATGGCCAGCTGGGCGTAGGCTACCCCGAGCACCACCAGGCCCAAGGTGACCCCCAGGAGCTCTGGCAGAGCTCGGCATAATGTCTT... |
Task1_train_22168 | This alteration in PKD1, PKD1-AS1 (polycystin 1, transient receptor potential channel interacting| PKD1 antisense RNA 1) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Polycystic kidney disease, adult type | AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCC... | AGCGAGGCCGCCAGGCCACGGGCTGCGGAGCTCAGCTGCGCCACCTGGTCGAAGCTAGTGAAGCGGCGCGGGCGGCCGCGCACGAAACGGGTCCACTGGCGGTCAGCGGCACCCAGCTGGGCGAGGCGTACCAGTGCCGTGGCCGCCGTCAGCGCCACCAGCAGCCACCGCGCCCAGGCTCCGAGCCGCAGCACGCGCCAGCGCCCTTCCCTGTGCCAAGTACGGGCCTCGGCCACGGCGAAGTGCACGGCGAACAGCAGCAGGCACACCTGTGGGGGGCGCGGTCAGGAGGGCGGGAGGGACGCTGCCGGGGCGGGGCC... |
Task1_train_22169 | The gene PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Polycystic kidney disease, adult type | CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGG... | CATGTCCTCCTCGCTGAAGTACTGGCACAGGGACGTGTACAGGCCCACGGACACCTGCAGCGCCGACCAGCGGAAGTGGCTGGAGAGGTTCAGATGGTAACTCCCCGCTGGGTCTCTGCTCCTGGGCAGGGAAGGGGTAGCGGACGTGAGCCCAGGCTCCGCCAGGTTGGATGTCGCAGTCTCAGAGCCCATACCCGGTCCAGTCCCCTCGCTGCCTGCCGTCCCCATGGGGCCAGTAACCCAGGCAATGCTGACCCATGATGCCCTGCCCTGCCCTGCCAGGCTGGCCCGCAGAGCTCACCCCGGGGAAATGAAGAAGG... |
Task1_train_22170 | Assess the clinical impact of this variant on gene PKD1 (polycystin 1, transient receptor potential channel interacting), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant polycystic kidney disease | CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCC... | CCACTTCTGCCTGCAGGCCCCGTCCCCTCGGCCATGGGACCCATCCCCAGCCCGCCCACACCCCGCTCAACACTCACCCCTCGCTTGGAGCCGCTGCTGCAATTGAGGCAGCGGCCCTCCAAGTACACGTAGGAGCTGCGGCTCACTTCGTACACGGCCTGTGCCTTGCAGGACACACACTCCAAGGACACAATGGGCACCCGGCCACTCCGGATCAGCACCTGGCGTGGGAGTGGGGTTACCTCCAACACAGGTCTATTTGGCCTGCTGGAAGGACTGGGGGACCCATGGAGGATGCTGCTCCCAAACTCCAGGTTTCC... |
Task1_train_22171 | This variant lies on Chromosome 16 and affects the gene PKD1 (polycystin 1, transient receptor potential channel interacting). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Polycystic kidney disease, adult type | CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAAC... | CTCCCGTGGAATGGTGACCGTGCTGCTCCCGCGGGGCCCAAAGTTCAGCGCACACCCGCCAGCCTCCCTCTGCAGGCCGAGAACAAGGGGCGACGTGGCCTGAGAGCCCCATCCAGTTTTAAAGCAGAGCCCGGCCCAGGAGACAGCGCGGGAGACCCCCTCCCCATGCTGGGACGGGGCCCACCAGGCACTGAGGACGGGCCAGCCCTGGTGGCAAGCTGGGTGTTCTCTGGGCTCATGGGTGTGGACGGGTGAGGGGCATGGAGGACGGCCCTGCCACGCACTGACCTGTGTCGAAGCCACACAGGCCCAGTGGAAAC... |
Task1_train_22172 | Here is a variant affecting PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Inborn genetic diseases | CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCG... | CCCGGCAGGCCAGCACCTGGACGGTCACCGTGGCCTGCGCCACGAAGAAGCTCACCAGGTTGGAGGCGTTCACCTGCACGCGGTAGTCCCCAGGCCTCAGGTAGGAGTGCTCGGCCCTGGGCTCATCTGTGTCCTGCCCTGGCGACCCATCCCCAAAGTCCCAGTGGTAGGCCACACGCCGGGGGCTGGGGCTGGTGGCGGCCTCAAACTGCGCCGAGCGGTTGGTGAAGCAGGGGCCGCTCTGCAGGGCCACATACTGGACGGCGTCCTGAACCTCCAGCACCAGCGTGCGGTTCTCACTGCCCAGGGCGTTGAAGGCG... |
Task1_train_22173 | Here’s a variant in PKD1 (polycystin 1, transient receptor potential channel interacting) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Polycystic kidney disease, adult type | GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAG... | GCTGGAACTGGTGGAGGGCCTGCTCCCCATCCCCAAAGGTCCACCTGCCGGGGCGGTGGGACGCAGTGAGTGAACCGGGACAGGGGTGGGCGGTGGCGGGGCAGGGGGTGCTTGGGACCCAGCCGAGGCTCCACTCTGCAGTCACGCCCCGGGCCTCCATTCAGGGCCCACCCGGCTGTGCTGAGGCCTCTCCCGGCTCCCGTGCAGCCTCAGGGCTCCTGTGCACCCAGTTACCTCCCAACAGACAGGGAAACCGAGGCTCAGAAAAGCAACCCCGTGATGTGGGGGTCCCTCGGCTGAGGCTGGGGCTGGGACAAGAG... |
Task1_train_22174 | The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Polycystic liver disease 1 | ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGA... | ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGA... |
Task1_train_22175 | This gene mutation involves PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is it associated with any clinical condition, or is it benign? | Pathogenic; Polycystic kidney disease | ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGA... | ACCCCAAACCGGCCCCCGAGTCACTCACAGGAAGGCCACCTCCACGGCCGAGTCCACCAGCACGCCCGCCGTCAGTGCTAGCGTGGCATTGGGGGACAGCACGGCCGGCACTGTGGAGACCTGCAGACCCTGCATCCTGTTCATCCGCTCCACGGTTACGTTGTAGTTCACGGTGACGTTGCTCACGTGGTTGGAGGCCGTCAGCTGCAGGGACAGGCGTCAGTGAGCCCAGGTGGCAGGTGAGAGGCCTGGCCCTGATTGGCGTCCCTCCCTCCACTCACCCACAGCCATGGCAGCGTCCTCGGGCAGCATGAAGCAGA... |
Task1_train_22176 | This mutation occurs in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Does this change lead to a known medical condition, or is it benign? | Pathogenic; PKD1-related disorder | GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTG... | GGGGACCAGGGTGGCCGGGAGCCGGCGAGCAGTGCAGGAGGGCGCCAGGGCCAGCGTCGTGCTGCAAGCCAACGAGGTCACCAGGGAGCATGAGGACATCCTGGCCGTGGAGGGTGACCTGTGGAGAGGGAGGCAGGGCTGCATCACGTCCTCACGGTCATGGCCCGTGGACCCCCGCACGACGGATGAGGGTGGACACGCAGGGCTCCCCGCTTCGTCAGCCACACCTCAAGGAGCCTCCCCACAGTGCTCGTGACAAGGACAGGCAGGACAGTTGCAGACCGGGGGACACACGGGGAGAGGACACAGGCCAAGACCTG... |
Task1_train_22177 | A variant has been detected on Chromosome 16 in PKD1 (polycystin 1, transient receptor potential channel interacting). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Polycystic kidney disease, adult type | GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTG... | GCGTCCCCCTGGCATGCACGCGGGGGCCAGCTGGGTCCTGTTGTCCGGGGACCTGCTCTCAGGCTCGCTGCCGTTCTCCGGGGTCCCTGTGAGGAGGGGAGGGTGTTGGGGCCCTGATTTGCCCACAGGCCACCGTCAGAGATGCCCAACTGCCTGCACCAGCAATCCTGGCCTTGCTGTGAGGACAGGTCTCCCCACCTGGGCAGCACTCCCAGCCCAGTGCTGCGTCCGTCTCCGGCCAGCCGACTGACCCAGGCCGGCCCCCAGGCAGGCCCCACCCAATCCACCCCCAGGACACCTGGAATGAGCTGGTGTCTCTG... |
Task1_train_22178 | The gene PKD1 (polycystin 1, transient receptor potential channel interacting) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Polycystic kidney disease, adult type | GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGG... | GACCCTTGAACACCTGCCAGCAGCTGTGATCTGTGTCCTTCACCTCTCCCAGCTTGACCCCTCTTCCCTGGGGAAAACCCAGCCGTCTCCCCGAGGAGGAGTTTGCAGGGTAGACAGCAAAATGGCTGGGCTGCCCCACAGCACAGAGGGTGGCCTGGGGGGCCAGCCAGGGCCTTCACATCCTTCCTAAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGG... |
Task1_train_22179 | Consider this mutation in PKD1 (polycystin 1, transient receptor potential channel interacting) on Chromosome 16. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTC... | AAGGCCCTAGTTTGCCATGGGTCCCCTCACCCCACCTTCCAGAACTCTCCCAGCGGCGGCCCCAGGTGTGTACAGAACAGCACCCACCTGCCCACATGAGGTCACCCTGTGCCCTGTTGCACACTTGGGGGGCCTGGCATTCGGAATCTTGCCAGCTCAGGCTGGGACAGGCCACCAACTCCCAGGGTCCCCCTCCTCCAAACCCCAGGACCAGAGCCTAAGAGGACAACACAAGGCAGGGGCGGGGGCTCCACTGCTGTGCCAAGGGCCTGGAGAACACGGGCCTTGCTCTCCGCTCAGCAGCCACCAGCGCCCTTCTC... |
Task1_train_22180 | A mutation in TRAF7 (TNF receptor associated factor 7), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Cardiac, facial, and digital anomalies with developmental delay | GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGAC... | GGCCTGTCCTGGCTGCACTGGGCTTGGGGTACAGCGAGGCCTGTGGCTGCCATGGCCATGGACTAGGGAAAAAGAGGACCCTGCGCCACCCTCAAGCCCGCCCTTTGCCTCCACAGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGGTAGGTTTGTGCCCCGGCCCAGGCCTGACGCCGACCGTGCCCATGGCTGCCGAGCAGAGGCGGGCGGCTTCTCCCTTGTCCCCTGCACAGCGTCCGGCCCTGTTTGGCCTCTGCTGGGGTTGGGATGGGGCTGCAGCCGTCCTAGGGACGCTCAGGCTGAGGCTCGGGAC... |
Task1_train_22181 | This variant affects gene TRAF7 (TNF receptor associated factor 7) located on Chromosome 16. Evaluate its biological effect and specify any disease association. | Pathogenic; Cardiac, facial, and digital anomalies with developmental delay | GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTC... | GAGGCTCGGGACCTCCATGAGCAGAGTGGGGACACCCCAAATTCCAGTGTGTCCAGACTCAGAGACCCCACAGTGGGTGTGGGCCGAGGCTCCCCATGCCAGGGTTGGCACCCTCTGGGGAGGCCTTTCTCACTGGCGAGGCTGTCGTCCTCCCGCACGGCGCCCGCTCCTGCCTGCCTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTC... |
Task1_train_22182 | This alteration in TRAF7 (TNF receptor associated factor 7) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cardiac, facial, and digital anomalies with developmental delay | CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGG... | CTCTCCGCACTCTGCCCTCTGCCCTCTTGGCCCCACCCCACACTTTTCCGGGCACAGCTGAGTGTCACAGGTGACACTCCCTCAGCACCTGCTGCTCCTTCTTGGTGGCCCACCTGTGCCCCCGTTCCCATGTTGCGTGCCTCAGAGGCGCAGATGGACAGATCTGGCCCCCATTAGAGGCTCATGCCCACCCGGGTGAGGGAGCGTGTGCCAGGCAGGCCGTGAGGGTCAGCACGCCCTCCTCTCCCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATCGCGGTGGCCGAGCAGATCGG... |
Task1_train_22183 | The gene TRAF7 (TNF receptor associated factor 7) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; not provided | TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTG... | TGGTGAACAACATCGCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGCCCCTTCACCATCAAGCTCAGCGCCCGGAAGTAAGTGCCCCTCCCTGGGCACCTCTGCCTCCCTGGGGGCTGCTTCTCAGGGCTCTGGCTGAGGCCTCCCCGCATCCCGCCCTGGCACAGGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATGAACCTG... |
Task1_train_22184 | An alteration has been detected in TRAF7 (TNF receptor associated factor 7) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Cardiac, facial, and digital anomalies with developmental delay | AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGC... | AGGCTGTGAGTATGGACCCGCCGTGGCTCCCGCCCACCCTCCCCCCCGGGCCCCAACTGGGCCTTCACCCACTGCTCCCATCTCTGCAGCCTACGACCCTCAGCAGATCTTCAAGTGCAAAGGGACCTTTGTGGGCCACCAGGGCCCTGTGTGGTGTCTCTGCGTCTACTCCATGGGTGACCTGCTCTTCAGTGGCTCCTCTGACAAGACCATCAAGGTGGGCAGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGC... |
Task1_train_22185 | Given a variant located on Chromosome 16 and affecting TRAF7 (TNF receptor associated factor 7), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiac, facial, and digital anomalies with developmental delay | AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAG... | AGGGTCCTACCTCAGTCTCTGCAGCCTGGCTGGGCTGGGCACTGCCACATGCCTGGCACTGCCAGCCTGCCTATGGGTGGGACCTTCTGGGCAGGGCCCTCTCCCATGGGCGGGGCTCCCTCACTCATTCCTGTCATGCTGCCCCTTGACACTGGGCTGACCTTGCTGGGACCCACTGTGGCCCTGGTCTCTGCAGGTGTGGGACACATGTACCACCTACAAGTGTCAGAAGACACTGGAGGGCCATGATGGCATCGTGCTGGCTCTCTGCATCCAGGGGTGAGTCCAGGCACATGTGTGATCAGTGATTCCCAGGACAG... |
Task1_train_22186 | A mutation on Chromosome 16 affecting ABCA3 (ATP binding cassette subfamily A member 3) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGAT... | GCGTGTCCTGGGGCGGGCGACTTCCTGAGGGTGCAGTGCTGGAAACAGAGACTGCTTCGAGCCTGGCCACCTTCCCTCCTGTGCCGGCTGCTTCTAGGAGATGCTGTGGGACGGTGCCCGGCTTCGCGGTGACTACCATGCCCTAAGGAGCAGAGCCTCCAGGATGCCCCCGGGCTGCGCTGGACGCTAAGACCCCAGCACCTAATCACAGTCAGCAGCTTCCCTCCACTGACAGTGATCTGCATGGTCCATTCCTGGCGGCCTGGGGGCCTCGCTACAGTTCAACCTGGCTGGCTTCCCGCTTCCTCCCCAGGGGAGAT... |
Task1_train_22187 | A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGA... | TAAACTTGGACAAGTCACTGGGTCCTCTCTCCAGGGAGTGCCTGGAGAAATTCAACCCCCAGCTCAGCTGCAGCCCTTCCTGGGTCAGCTCTCCACCCAGAGACCCCGGAGCTTGCCCGCAGACTGCCCGGCCTGCCCCAGCTCTGGGAAAGTGAACTCCAGAGTATGCAGACATGGAGATGCGCATGCTGATCCTGGGCATGAGGGCTGGGCTGCACTCGTCCATTCTGTGCATACTGCCTTGAATTTTTCATATCCATCATAGAAAAAAGTGATTAAAAATAAAGGATGAGATAAACTTGGAGAGAGAGGATGTAAGA... |
Task1_train_22188 | Given a variant located on Chromosome 16 and affecting ABCA3 (ATP binding cassette subfamily A member 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary pulmonary alveolar proteinosis | CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCAT... | CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCAT... |
Task1_train_22189 | Located on Chromosome 16, this mutation impacts ABCA3 (ATP binding cassette subfamily A member 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCAT... | CATAGCCGGGGAGGGAGGCGGGTTGGAGGGAAGCCTCCTTCCTCCAGAGGACCACGGGGACTACCCTTGAGGTGCCCACCACTGCGCCTGTCTGTGGTTCCTGCCAGTGTGTGTACACGGGGGCGCTGGAGCTATGCACAGGCCGTGGTGGCTGCCCACAGTGGAAGCTCTTGGAACAGGGACACAGGAAGGATGTGCCTGGTGCAGGGAGGCTTCCAGAGCTGCTCTCAGAGCCTGGTCCAGGACAGGCAGCCATGGGGTTAGGTGGTGCAAGAATGGCCTTTACGTAGAAGCAGACTCAGAGCTGGCTACCCACTCAT... |
Task1_train_22190 | The gene ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; See cases | ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTG... | ACAGGTGCCCGCCACCACGCCCGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCTTCGGCCTCCAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCATGTGGCTAATTTTTAATTTTTTTGTAGAGATGGGGTCTCACTATGTCGCCCAAGCTGATCTCCTTCTCCTTCTGCCTTGGCTTCTGAAAGTGTTGGGATTACAGGCATGAGCAACCATGCCTGGCTAAAAGTGAGGTTCATATGGTTTGATTCCCTG... |
Task1_train_22191 | The gene ABCA3 (ATP binding cassette subfamily A member 3), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCC... | ATGCGGTCTCCCAGCAGGTCAGCCTCGTCCATGAAGTGGGTGGTCAGCACGATGGTGCGGTCACTTTTCTGCCGCTGAAGAAGATCCCAGATGGCCCTCCTGGAGATGGCGTCCATGCCCGAGGTGGGCTCGTCCAGTATCAGCACCTGGAGGGAGAGACACAGTCTCGCGACGCTGGTAGAGCCACACCCCGGGCCCAGGCTGGCCTTGCGGTAGGCCCCATCGAGGGGTTCGCGGAGCCGGCTTGAGTCCTCCAAGGATGGTGATGGCCTTGTCTGGGGTGTCAAGGGCCAAGGTGCCCGGGCCATGGCGGAAGGGCC... |
Task1_train_22192 | A genetic alteration is present in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hereditary pulmonary alveolar proteinosis | AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCA... | AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCA... |
Task1_train_22193 | An alteration has been detected in ABCA3 (ATP binding cassette subfamily A member 3) on Chromosome 16. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not specified | AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCA... | AACCGTTCTAATGAAAGACAAAGCAACGCTGGACACTCCCACCTCCTTCCACAGACCCAGACCTTGGCAAGCTGCAGCTAGGAACTGCATGGTGCCATGGCTTGACTGGGCCCCCCAAATTCATGTGTTGGAGACTTGACCCCCAATGCAGCAATGTTGGGAGGAGGCCTAACTGGAGGGGCTCAGACCAGGTTTGGTGCCCACAGCAGGCTTTGCAGAATGAGAGCCCACAGGCCAAAGGCCGACCAAGGAAGTGTTTTACTCAATTTAATTTCATAAAAATTAAGAAAAAAAGTGGGCGGCTCACGCCTGTAATCCCA... |
Task1_train_22194 | Consider a variant on Chromosome 16 in gene ABCA3 (ATP binding cassette subfamily A member 3). Determine its clinical classification and disease relevance. | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGA... | CTAGATGGACTTGATGGCTTCCTAATTTTAATGCCATCAGGCAAGCAAAAACCTCACTTTCTTTCTTTCCGCCAGATCATATTTAAGTCCTAAATACCTACTACTTTCCTTAACTATCTTATTAGACTCTGTTCTGGAGACCAGTAATATCTTTCATAAAATGAGGGAACAGAAAGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGA... |
Task1_train_22195 | A genomic change on Chromosome 16 affects ABCA3 (ATP binding cassette subfamily A member 3). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Hereditary pulmonary alveolar proteinosis | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... |
Task1_train_22196 | A mutation in ABCA3 (ATP binding cassette subfamily A member 3), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Interstitial lung disease due to ABCA3 deficiency | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... |
Task1_train_22197 | This variant affects the gene ABCA3 (ATP binding cassette subfamily A member 3) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... | AGGAGCTTGGGGCGGCCACAGGCAGGTGCATTTTCTAACCTGTTCTGACCCGTGGGTTTAAATGTCACCAAGATCCCCTTGGCGGGGACTGTGATGATATTATCAGACCCAAAGGAGTGACTGCTATTGACTTGCAGGCAGGCAGAGGTTTAAGGGAAAGCAGTGCCTTTTACAGGTTGAACTAGTGACGCGGGAGGAAGCGGAGGCCTTGCTGATGGGCTGTGACTGCTCGGCCCGGCCGCACGTCTCACCGCCAGCGGCAGGGGCTCCTTGCTGTGGTTGAAGGGGTGCTCGAAGACCACGGCGGCCAGCACGCTGGA... |
Task1_train_22198 | Chromosome 16 houses a mutation in gene CCNF (cyclin F). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTT... | TGCAGGTTACGAAAGTCGCCTCTTGTTTTAGCAAACCCTTTAATTTCAGTTGGCAAAGAGTGACTGAGCCAGAGCCTCAGCACGGGGGCTGTTTGGGCTCCCTGCCCTGTGCGCCATGAGCACGCAGACCTGCCTGTGGATGCTGGCCCTCTCCTTGGCCATCCTCTTAGAACTCTCGAGACAGAGTTCAGCGTGCCCTGTAACACAGAGCCAGGCTTCTAAACGGGAAGCAGGTACAGGCAGGTTAGAACTGGCCTGGTGCCTGGATCCCTTCATCCCCAGAGGCCAGGTGCTCCTTGAAAGAAACTTGCGCAGCCTTT... |
Task1_train_22199 | The gene CCNF (cyclin F) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 | CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCA... | CACCAGACGGGAACTGGGAGGTGTAGTCTCTTCGGGCCTGTGTGTGCCAGCTCGATGCAGTGTCATTCCCATGGAAGGAGGGAGCAAACCCTGCCACAAGCATCCAGAGCTGTCTTCAGATGCGCTCTTGGGCCTGAATCCAGCGTCCCAGGTCTTCCGACCAGAGACGACTGAGGAGGTCGGGCGGCCGCCTCCCTGGATCTGACTGCACATCCATCACTGCAACCTACGACAAAGCTCCTGGGCCACAACCGGCTGGCAGTGAGAGAATAACTGCTAAAAACGTTTCAGGGAGCTGAGTCCAATTTCTTCCCCAACCA... |
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