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_26500 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCC... | CCCGGACTTTTGTTGTTTTATATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCC... |
Task1_train_26501 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Familial hypercholesterolemia | ATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGC... | ATCTATATATCTATATATAACTTGTTTTATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGC... |
Task1_train_26502 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Familial hypercholesterolemia | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... |
Task1_train_26503 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Cardiovascular phenotype | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... | TATGTATATATATAACTTGTTTTATATATATACATAAACTGCAGTAAAAAACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCAC... |
Task1_train_26504 | A mutation in LDLR (low density lipoprotein receptor), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Hypercholesterolemia, familial, 1 | AACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCAT... | AACATGTAACATAAAATTTACCTTCTCAAACCTTATTAAGTGCACAGTTCTGTGCCATTAGCAAATTCACACTGTTGTACAACATCACAACCACCATCTCCAGAACTTTTTTTTTTTTTTTTATTCTTTTTGAGACAGAGTCTCACTCGTCGCACGGGCTGGAGTGCAGTGGTGCGATCTCGGTTCACTGCAACCTCCACCTACCAGGTTCAAGCAATTCTCCTGCCTCAGCCCCCTCAGTAGCTGGGATTACAGGTGCCCGTCCTACCACGCCCAGCTAATTTTTGTATTTTCAGTAGAGACTGACTGGGTTTCACCAT... |
Task1_train_26505 | A sequence alteration has been identified in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Familial hypercholesterolemia | GAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGC... | GAAACTCCATCCAAAAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGC... |
Task1_train_26506 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Familial hypercholesterolemia | AAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGG... | AAAAAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGG... |
Task1_train_26507 | This is a variant in LDLR (low density lipoprotein receptor), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Hypercholesterolemia, familial, 1 | AGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTAC... | AGAAAAGAAAAGAAAAAAAAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTAC... |
Task1_train_26508 | This sequence variant lies in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypercholesterolemia, familial, 1 | AAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAA... | AAGAAAAGAAATTTCAGCTGACACAGCTTCACACTCTTGGTTGGGTTCCCGTGGTGAATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAA... |
Task1_train_26509 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAG... | ATGATGAGGTCAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAG... |
Task1_train_26510 | Given a variant located on Chromosome 19 and affecting LDLR (low density lipoprotein receptor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | CAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTG... | CAGGTGATGACTGGGGATGACACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTG... |
Task1_train_26511 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | ACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCA... | ACCTGGCTGTTTCCTTGATTACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCA... |
Task1_train_26512 | Given this context: Chromosome 19, gene LDLR (low density lipoprotein receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Hypercholesterolemia, familial, 1 | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGT... | ACATCTCCCGAGAGGCTGGGCTGTCTCCTGGCTGCCTTCGAAGGTGTGGGTTTTGGCCTGGGCCCCATCGCTCCGTCTCTAGCCATTGGGGAAGAGCCTCCCCACCAAGCCTCTTTCTCTCTCTTCCAGATATCGATGAGTGTCAGGATCCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGT... |
Task1_train_26513 | Here is a genetic alteration in LDLR (low density lipoprotein receptor) on Chromosome 19. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypercholesterolemia, familial, 1 | TGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTA... | TGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTA... |
Task1_train_26514 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | GAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGT... | GAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGT... |
Task1_train_26515 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | CTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAA... | CTGGAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAA... |
Task1_train_26516 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Familial hypercholesterolemia | GAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAG... | GAGGGTGGCTACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAG... |
Task1_train_26517 | A variant affecting Chromosome 19, within the gene LDLR (low density lipoprotein receptor), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Hypercholesterolemia, familial, 1 | TACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCT... | TACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCT... |
Task1_train_26518 | The gene LDLR (low density lipoprotein receptor) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Hypercholesterolemia, familial, 1 | ACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTT... | ACAAGTGCCAGTGTGAGGAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTT... |
Task1_train_26519 | Here is a mutation in LDLR (low density lipoprotein receptor) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | GGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGG... | GGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGGGTGAGCACGGGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGG... |
Task1_train_26520 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | GGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACA... | GGAAGGCGGCGGGTGGGGGCGGCCTCACCCCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACA... |
Task1_train_26521 | A genetic alteration is present in LDLR (low density lipoprotein receptor) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Hypercholesterolemia, familial, 1 | CCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCT... | CCTTGCAGGCAGCAGTGGTGGGGGAGTTTCATCCTCTGAACTTTGCACAGACTCATATCCCCTGACCGGGAGGCTGTTTGCTCCTGAGGGCTCTGGCAGGGGAGTCTGCCGCCCTGTTAGGACTTGGGCTTGCCAGGGGGATGCCTGCATATGTCCTAGTTTTTGGGAATATCCAGTTAACGGAACCCTCAGCCCTACTGGTGGAACAGGAACCGGCTTTCCTTTCAGGGACAACCTGGGGAGTGACTTCAAGGGGTTAAAGAAAAAAAATTAGCTGGGCATGGTGCCACACACCTGTGGTCCCAGCTACTCAGAAGGCT... |
Task1_train_26522 | Here’s a variant in LDLR (low density lipoprotein receptor) located on Chromosome 19. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Hypercholesterolemia, familial, 1 | CCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATC... | CCAAGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATC... |
Task1_train_26523 | Consider a variant on Chromosome 19 in gene LDLR (low density lipoprotein receptor). Determine its clinical classification and disease relevance. | Pathogenic; Cardiovascular phenotype | AGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGG... | AGACAGCCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGG... |
Task1_train_26524 | This sequence variant lies in LDLR (low density lipoprotein receptor) on Chromosome 19. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Hypercholesterolemia, familial, 1 | CCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGA... | CCCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGA... |
Task1_train_26525 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAG... | GCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAACTAAACAAAAAACTGGTTAGTGGCTAGACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAG... |
Task1_train_26526 | A variant was discovered in gene LDLR (low density lipoprotein receptor), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Hypercholesterolemia, familial, 1 | ACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTG... | ACAACAGGATGGTATCTTCCAAGCCCATGGCTGACTCAGCAGCTCCTGGGTCAAGACACTGTGACCTGTGTCCCCTGGCAGGAAGCATCGCCCCTGCCACCTGCCCGGTGTACTCTGTACCTGTCAGGTGACATCTGCTACCTAAGCACGTGAGAGGTGGCATTTCACAGTTTCAGTGTGGTGCTGACAACCCGGGACGCACACTGTCCTTGCAGCTACAATCAGGAGGTGAATGTTGGGTTTCCAGCAGAGAACACTGGAGAAGGCACACTTGGTGTCTGGAAGGGAAAAGCAGGGAAGAGAGCATCATCAGATGCCTG... |
Task1_train_26527 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Familial hypercholesterolemia | GAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCT... | GAGACGGAGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCT... |
Task1_train_26528 | A variant has been detected on Chromosome 19 in LDLR (low density lipoprotein receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Hypercholesterolemia, familial, 1 | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCA... | AGTCTCGCTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCA... |
Task1_train_26529 | This gene mutation involves LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with any clinical condition, or is it benign? | Pathogenic; LDLR-related disorder | CTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACA... | CTCTGTCGCCCAGGCTAGATTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACA... |
Task1_train_26530 | This variant affects the gene LDLR (low density lipoprotein receptor) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | ATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTG... | ATCTCGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTG... |
Task1_train_26531 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | TCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATA... | TCACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATA... |
Task1_train_26532 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | CACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAA... | CACTGCAGCCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAA... |
Task1_train_26533 | A variant found in Chromosome 19 affects LDLR (low density lipoprotein receptor). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGT... | TCCTGCCTCAACCTCCCAACTAATTAGGATTACAAGCATGTACCACCATGCCTGACTAATTTTTTGTATTTTTAGTAGAGACTGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACCCTTAGCCTCAAGTAATCTGCCTGCCTCAGCCTCCCAAACAGCGGGGATTACAGGCATGAGCCACTGTGCCCAACCCAACCCTGGATCTCTTTTAAACAAGACAATGCTCGCTGTTGCCACAGAACAATGGGTGGGGTACATGTGGCCCAGTGTGTTTGGCCACATAACTGCCAGGCCAGAGGGAAAGAGACTCTCAGACTGT... |
Task1_train_26534 | This mutation is located in gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hypercholesterolemia, familial, 1 | GGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTG... | GGGGTTTCTCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTCATTCGCCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTGGTTTGTATTCTTTTTACTGAGAGTCGTGAAAGGCAGTGATCCTCTGTCACATGTGATCTTGGCTCTCAGGGGACATTTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTG... |
Task1_train_26535 | This variant lies on Chromosome 19 and affects the gene LDLR (low density lipoprotein receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypercholesterolemia, familial, 1 | TTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAA... | TTGGCAATTTCTAGAGATTTTTTGGTTGTCACAAGTCAATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAA... |
Task1_train_26536 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | ATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTT... | ATGGGGAAGACTGTTGGCATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTT... |
Task1_train_26537 | Given this variant in gene LDLR (low density lipoprotein receptor) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypercholesterolemia, familial, 1 | CATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAG... | CATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAG... |
Task1_train_26538 | The following genetic variant occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hypercholesterolemia, familial, 1 | ATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGA... | ATTTAGTGGGTAGAGGCTGGTGACGCTGCTGAACACCCAGAACAGGGAAGTAGCAGGCCCTAGATAGAGCCATCGTGGGGAAACCCTGCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGA... |
Task1_train_26539 | This alteration occurs within gene LDLR (low density lipoprotein receptor) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Hypercholesterolemia, familial, 1 | GCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAAT... | GCTCTAAGGAAATGGCGCTATTTTATAACCCCACGTTCCTGGCATGATTACCAACAGCCAAAAGTGGAGTCCCCCCAAGTGTGTTCGTCCATTTGCATTGCAGTAAAGGAATAGCTGAGGCCGGGTAATTTATAAAGAAAAGAGATTTAAACTGGGTATGGCAGTTTATGCCTATAATCCCAGAACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGAGTGTGAGACCGAGACCAGCCTGGCCAACATGACGAAACTCTGTCTCTACAAAAAATACAAAAAGTAGGCCAGGCACGGTGGTTCACGCCTGTAAT... |
Task1_train_26540 | Chromosome 19 houses a mutation in gene LDLR (low density lipoprotein receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Familial hypercholesterolemia | GCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAAC... | GCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAAC... |
Task1_train_26541 | This mutation occurs in LDLR (low density lipoprotein receptor) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Hypercholesterolemia, familial, 1 | AGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAA... | AGTGTTGGGATTACAGGTGTGAGCCACCGCGCCCAGACCAAAATATGCTCATTTTAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAA... |
Task1_train_26542 | A variant was discovered on Chromosome 19, affecting LDLR (low density lipoprotein receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Hypercholesterolemia, familial, 1 | TAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCT... | TAATAAAATGCACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCT... |
Task1_train_26543 | This variant impacts the gene LDLR (low density lipoprotein receptor) on Chromosome 19. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hypercholesterolemia, familial, 1 | ACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGG... | ACAAGTAGGTTGACAAGAATTTCACCTGCAACCTTGTCAACCACCTAGAATAAAAGCCTCTGCAGCCCTCCCCTAAAGACTCATCAATGTGAGGCTCAAGAACCTTCTTAGGCTGGGCTCGGTGGCTCATTTCTGTAATCCCTGCACTTTGGAAGGCTGAGGCAGGAGGATCTCTTGAGGCCAGGAGTTCAAGACAAGCCTGGGCAACATAGCCAGACCTCTGTTTCTATCCCCCACAAAAAGAACCTTCTTAAACCGGAATTGAGTCCTACAACCTCGATAACTCACAAATAAGCCCGTGTGGCCTCTCACAGACTTGG... |
Task1_train_26544 | A change on Chromosome 19 affects gene KANK2 (KN motif and ankyrin repeat domains 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Nephrotic syndrome 16 | TTTTGCCCAGACACCTGTTCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGT... | TTTTGCCCAGACACCTGTTCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGT... |
Task1_train_26545 | This alteration in KANK2 (KN motif and ankyrin repeat domains 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Wooly hair-palmoplantar keratoderma syndrome | TCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAG... | TCATAAGCCCCAGTCACCTCCACAGTGCCTGTTTCTGCTTCCCAACACACAGCTGAAGGGAGCGCTCAAACCAGGAATCAGGCCACGCCACTTCCCTGCCTAAATTCCCCTGGCGGTTTCCTGCAGCCCTGAGTCCAAACTGGCTTGAGTCCCGGTGCTCCCTAAAATGCTTATGGCTTGAAGAACGGGCTAGTGAGCTTCAGGAGACCATGCCTGCTTGTTCGCCATTTCAGTCCCCAGTTTTCGGCCCAGGGAACCCAGCTGCTGCTCAATGAACTGTCCAGCAGGATGTGGGATGGGGTCATATTAAGAAAGGTAAG... |
Task1_train_26546 | This sequence change occurs on Chromosome 19, altering KANK2 (KN motif and ankyrin repeat domains 2). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Nephrotic syndrome 16 | CAGGGCTTGGGTGGGGCTCCCCTACCCCCGGCGTCCATGGCTAGGCAGACAGGGACACCGTGATTGGCTCAGCAATGGGCACATGACCCAGGCCAGCCAATGAGGGCCCCCTCTGGGATTTTTACTGGTGCTCTTTGGATTAAGGATCTCCCTCTCCACTAAACTGGACAGACAGATGCCTGGAGCAGTGAGGTCACTTTCCCTTGCCTGCCTGAAAGAGAAGCTCCCAGGGAAAACAAGAAGAGAAAGGCACCAAGTTAGATTCCTGATGATATCTGAGCACTGAGGCCAGCGTGGTGGCTCATGCTTGTAATCCCAGC... | CAGGGCTTGGGTGGGGCTCCCCTACCCCCGGCGTCCATGGCTAGGCAGACAGGGACACCGTGATTGGCTCAGCAATGGGCACATGACCCAGGCCAGCCAATGAGGGCCCCCTCTGGGATTTTTACTGGTGCTCTTTGGATTAAGGATCTCCCTCTCCACTAAACTGGACAGACAGATGCCTGGAGCAGTGAGGTCACTTTCCCTTGCCTGCCTGAAAGAGAAGCTCCCAGGGAAAACAAGAAGAGAAAGGCACCAAGTTAGATTCCTGATGATATCTGAGCACTGAGGCCAGCGTGGTGGCTCATGCTTGTAATCCCAGC... |
Task1_train_26547 | A genetic alteration is present in DOCK6 (dedicator of cytokinesis 6) on Chromosome 19. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; DOCK6-related disorder | AAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCTGCAGTGCTG... | AAAAAATCACATGGATATTTTACACTGGAAAAAAATATATAATATCTGAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGTGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCTGCAGTGCTG... |
Task1_train_26548 | The gene DOCK6 (dedicator of cytokinesis 6) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Adams-Oliver syndrome 2 | AAAAGGGGAAACTGAGGCACTGAAGTTTTTTGTTGGTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCTATGTATGTATTTATTTATTATATAGAGACGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATGCCCCCGCC... | AAAAGGGGAAACTGAGGCACTGAAGTTTTTTGTTGGTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGGAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTTAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACGTGCCACCATGCCCAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCTATGTATGTATTTATTTATTATATAGAGACGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGTGATGCCCCCGCC... |
Task1_train_26549 | Here is a variant affecting ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | CTGCTTGGATTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGC... | CTGCTTGGATTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGC... |
Task1_train_26550 | A sequence alteration has been identified in ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | TTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTA... | TTTTATTTTTTTTTTATTTTTTATTTTTTTGAGATGGAGTCTCGCTCTTTCACCCAGGCAGGAGTGCAGTGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTA... |
Task1_train_26551 | Here is a variant affecting ACP5 (acid phosphatase 5, tartrate resistant) on Chromosome 19. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | TGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCT... | TGGCGCTATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCGCCACGCCTGGCTAATTTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGTCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCGGGTTTTATAATCACATCCATGGATAAGGCAACTTGGTCATGGATGGGGTAAGAGATGGAGGCAAGGAACAGCAGCT... |
Task1_train_26552 | A genomic change on Chromosome 19 affects ACP5 (acid phosphatase 5, tartrate resistant). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Spondyloenchondrodysplasia with immune dysregulation | AACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGG... | AACACTGTGGCTGGGACACATGTCCATGTGTGTTTCACATACGTGGGCATCTGTGCCACAAGGGTCATGTGGCACCACAGTTCATCAGCTGTGTTTCCCCTTCCTGCCCTGCTGCAGCGCCACAGGTTGGAGGAAAAGCCTGCCTGTGAGCAGGGTCCCGGCAGGGCCCACCCACCCAACAGTGGAGATCGGGCCTCAGAGCTGGGCAGTCATGGGAGTTCAGGGCCTGGCTCGCCTCGGCAGCCTGGTCTTAAAGAGGGACTTGCCCGAGGCCTCGATGTAAGTGACAGTCATCTCTTTGGAGCTGATCTCCACATAGG... |
Task1_train_26553 | A change on Chromosome 19 affects gene MAN2B1 (mannosidase alpha class 2B member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Deficiency of alpha-mannosidase | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGT... | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGT... |
Task1_train_26554 | Consider this mutation in MAN2B1 (mannosidase alpha class 2B member 1) on Chromosome 19. Is this a benign change or a disease-causing variant? | Pathogenic; Inborn genetic diseases | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGT... | CAGGACAGAGCCTGGGGGCGGTGAGAGGGCGGGGCTAAAGTGAAATGGGCGGGGCCGGAGGTGAGTTGGTGGTTTAGGGGCATGAGCTAGGGCTGTGCCTCTACACAGTCCAGGGGGGTTGGGACTGGGCTGGCACTGGGCGGGGACTGCCCAGGGGATGGGGTTGGCCCGAGGGTTTGGGGCTAATTATGGCCAAATGGATCCCCGCTGAGCCTAGGAAACTCCGCACCCAAACCCGGCTCCCTGGTAGACTTCAATCCGGTCCTCTCTGCCTACCCCGCTGCCCCTCACCTGCGTGCGCGGAGGAGCCCCGAGATTGT... |
Task1_train_26555 | This variant affects gene LOC129391064, MAN2B1 (MPRA-validated peak3365 silencer| mannosidase alpha class 2B member 1) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Deficiency of alpha-mannosidase | CTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGCCTGGGGCTTCCAGCGAGGCACCTGGGCTA... | CTGACATGTCTGTCAAGTGTCACCCATGATCACACTGGGTCCTCATAACAGTCCCAGGAAAGGACACTGAGGCTCAGACAAAGGTCACTTGCTCAAGGACACACAATGAGGGGAGTTGTGACAGGAGGTCATAAGCCTAGGGACCTGCTGACCCAGAGTCCACACAGCTCACCATGACACTTCAAATTTGTCACAGGAGCAGGAAAGGGGATTGAAATGGGGTCTCACCTCATTTTCGATGGTTAAAGCAGGGGACCAGGATCTTCTGGGGATGGGCTGTGGTGCGCGGGCCTGGGGCTTCCAGCGAGGCACCTGGGCTA... |
Task1_train_26556 | This variant affects the gene MAN2B1 (mannosidase alpha class 2B member 1) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not specified | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCA... | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCA... |
Task1_train_26557 | Given a variant located on Chromosome 19 and affecting MAN2B1 (mannosidase alpha class 2B member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Deficiency of alpha-mannosidase | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCA... | CTTGGCGGGTTGTAACCATTGGGAAGCACACCTGCAGGTCACACCAAGTTCAAGGGGTGGCCCATCACCCAGACCTTCCCTGGTTTCAAAGCCGGCCATGTCCCACCCAGGATGGGCTTCAGAATTTGTGTCCCAATGCAAAAGGAAATGCAGGGCCTTTGTTCCCAGACTATAGGAATTCCAGGACAGTGACAACAGAGCAGATATCAAGCCCAGGGCCCTTCTGAGTGTGTGGCACCATGGCTGGCCCTGCCCTCACCAAGCCCCCTACCAGTGAAGAGGTCCGCGGTCGGGGGCTTCAGGCTGGTGCTGGCCCGCCA... |
Task1_train_26558 | A mutation found in TNPO2 (transportin 2) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | CAACATGGCAAAACCCTGTCTTTACTAAAAATACAATAAAATTAGCCAGGCATAGTGGGACACGCCTGTAGTCCCAGCTTCTTGAGAGGCTAAGGCAGGAGAACTGCTTGAACCCTGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAACAGGTGGGGGGCGGTGGGGGGGGCATAGTGTTTGCATATGCACCTATGCACATTCTCCTGTACACTTAGCATCATCTCTAAATCACTTATATCTAATACAATGTCAACAGTATGGGAATAGTTG... | CAACATGGCAAAACCCTGTCTTTACTAAAAATACAATAAAATTAGCCAGGCATAGTGGGACACGCCTGTAGTCCCAGCTTCTTGAGAGGCTAAGGCAGGAGAACTGCTTGAACCCTGGAGGTGAAGGTTGCAGTGAGCCGAGATCACACCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAACAGGTGGGGGGCGGTGGGGGGGGCATAGTGTTTGCATATGCACCTATGCACATTCTCCTGTACACTTAGCATCATCTCTAAATCACTTATATCTAATACAATGTCAACAGTATGGGAATAGTTG... |
Task1_train_26559 | Given a variant located on Chromosome 19 and affecting TNPO2 (transportin 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | AGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACC... | AGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACC... |
Task1_train_26560 | The gene TNPO2 (transportin 2) on Chromosome 19 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | GAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTC... | GAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACCCCAGCCTGGCGAGAAAGCAAGACTCAGTCTCAAATAAATAAATAAATAACACAGCTTATGTAATCTATTAACATATGTAAGCGTATTGTGTGATATATACCCTATTAACATGAGATATGAGATACATTAAACACATATTACATGTCGAAACATTTCTTTAGACAATTTTTTTTTGAGACAGGGTCTCAGTCTGTTCTCCATGCTGGAACGCAGTGGCGCAATCATGGCTCACTGCAGCCTTGACCTC... |
Task1_train_26561 | This alteration in TNPO2 (transportin 2) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; TNPO2-related disorder | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCT... | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCT... |
Task1_train_26562 | Here is a mutation in TNPO2 (transportin 2) on Chromosome 19. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCT... | TAGTGAGACCTCACCTCTAATGAATGATAAATAAATAAATAAATAAATAAATAAATAAATAAACATACAATATGCTGGGCGTGGTGACTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGTGGGCAGAACACAAGGTCAGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGAGGGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCCCTCCAGCCTGGGCAGCAGAGTGAGACTCCGTCTCAAAAACAGAAATTTCAAAATAATAATAATAATGATCTGGGGGCTGGGTACAGTGGCTCGCACCTGTAATCT... |
Task1_train_26563 | Given this variant in gene GET3 (guided entry of tail-anchored proteins factor 3, ATPase) on Chromosome 19, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Cardiomyopathy, dilated, 2H | ACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT... | ACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCTCGCCCGGCTAATTTTTTGTATTTT... |
Task1_train_26564 | A genomic change on Chromosome 19 affects LOC117038795, RNASEH2A (CRISPRi-FlowFISH-validated PRDX2 regulatory element 4| ribonuclease H2 subunit A). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Aicardi-Goutieres syndrome 4 | ATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAACCAACCAAACAAACAAACAAACAAAAACATTTAAGTTAGATGAGCGTGGCGGCACATGCCTGTGGTCCCAGCTACTCGGTACGATGGGGAGGAAGGATCGCTTGAG... | ATCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATTAGCTGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAACCAACCAAACAAACAAACAAACAAAAACATTTAAGTTAGATGAGCGTGGCGGCACATGCCTGTGGTCCCAGCTACTCGGTACGATGGGGAGGAAGGATCGCTTGAG... |
Task1_train_26565 | Gene RNASEH2A (ribonuclease H2 subunit A), found on Chromosome 19, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aicardi-Goutieres syndrome 4 | AGGTAGGAGAACCGCTTGAGTCCTCGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCCCCATCTCTATAAAAAATTTAAAAAATTAGCCGGTTATAGTGGTGCCCACCTGTAGTCCCAGCTACTCTGGAGGAGGAGGCTAAGGTGGGTGGGTTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATGCCACTGCACTCCAGCCTTGGTGACAAGATGAGATCTTGTGTCAAAAAAAAAAATAATGTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGAT... | AGGTAGGAGAACCGCTTGAGTCCTCGAGTTCAAGACCAGCCTGGGCAACATAGCGAGACCCCCATCTCTATAAAAAATTTAAAAAATTAGCCGGTTATAGTGGTGCCCACCTGTAGTCCCAGCTACTCTGGAGGAGGAGGCTAAGGTGGGTGGGTTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCTATGATTATGCCACTGCACTCCAGCCTTGGTGACAAGATGAGATCTTGTGTCAAAAAAAAAAATAATGTTAGCCAGGCGTGGTGGCTCACACCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGAT... |
Task1_train_26566 | A variant was discovered in gene LOC117125587, MAST1 (CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element| microtubule associated serine/threonine kinase 1), Chromosome 19. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | TGGGATTACAGGCGTGAGCCACCGAGCCCTGCCCTCAGTCCCAGAACTTTGAGAGGCCAAAGTGGGAGTATTGCTTGAAGCCAGGAGTTGGAAGCCAGCCTGGGCAACATAGAGAGACCCTGTCTCTGCAAAAAAGAATTAGCCAAGCATGGTGTAGTCCCAGCTACACAGAAGGCAGAGGGGGGAAGATTACTTTAGCCCAGGAGTTCAAGGCTTCCGTGAGCCATGATTGTACTACATCCCTCTAGCCTGGGTGACACAAGGAGACCGTGTCTCTCTCTCTTTTTAACTTTAAATAATTTTAATAAATAGAGACACAG... | TGGGATTACAGGCGTGAGCCACCGAGCCCTGCCCTCAGTCCCAGAACTTTGAGAGGCCAAAGTGGGAGTATTGCTTGAAGCCAGGAGTTGGAAGCCAGCCTGGGCAACATAGAGAGACCCTGTCTCTGCAAAAAAGAATTAGCCAAGCATGGTGTAGTCCCAGCTACACAGAAGGCAGAGGGGGGAAGATTACTTTAGCCCAGGAGTTCAAGGCTTCCGTGAGCCATGATTGTACTACATCCCTCTAGCCTGGGTGACACAAGGAGACCGTGTCTCTCTCTCTTTTTAACTTTAAATAATTTTAATAAATAGAGACACAG... |
Task1_train_26567 | A variant affecting Chromosome 19, within the gene MAST1 (microtubule associated serine/threonine kinase 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | CGGGAGGCTGAGGAACAAGAATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAAT... | CGGGAGGCTGAGGAACAAGAATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAAT... |
Task1_train_26568 | Assess the clinical impact of this variant on gene MAST1 (microtubule associated serine/threonine kinase 1), found on Chromosome 19. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations | AATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCAC... | AATCTCTTGAACCCGGGGGCGGTGAGTGGGCAGAGGTTGCAGTGAGCCGAGATGGAGCCACTGCACTCTAGCCTGGGTGACAGAGCCAGACTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAAAAAAATTAAGAAAAGATAATCCATTTGGCTCTTGTGGAGAGAGCAGAATCAGGAGACTAGGAGGTAGATGACTGCTCTAGTCCAGGTTCATTGCAGAGGAGGAGGAGAGAAGGGGGCCAAATCAGTATCTCTATGGTGGGTCTGTGTGCACAATAGATGTGCTCAAATGCAGATTCCTGGGCCCCAC... |
Task1_train_26569 | A genomic change on Chromosome 19 affects DNASE2 (deoxyribonuclease 2, lysosomal). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | GCTCAGTTGTCAATTCCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATA... | GCTCAGTTGTCAATTCCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATA... |
Task1_train_26570 | Located on Chromosome 19, this mutation impacts DNASE2 (deoxyribonuclease 2, lysosomal). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | CCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTA... | CCCAGTCCTGGGAATGATGACATTAATATTAATTGCCCTTCCCAAATTTGTTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTAATCTCGGCACACTGCAACCTCTGCCTCCTGGTTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTGTACTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGTTCTCAAACTCCTGACCGTGTAATCAGCCAGCGCCCTCCACCATGCCCAGATAATTTTTGTACTTTTA... |
Task1_train_26571 | Given a variant located on Chromosome 19 and affecting DNASE2 (deoxyribonuclease 2, lysosomal), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency | TGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTT... | TGGTCAAGGAGCAGGACACCTGGACCAAAAGAAGGCATTAGGGGAGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACACACAGATCACCTGAGGTCAGGAGTTAGAAATCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGAGCGTGGTGGTGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCCACCACTGCACTCCAGCCTGGGCCACAGAGCAAAATTT... |
Task1_train_26572 | This mutation occurs in KLF1 (KLF transcription factor 1) on Chromosome 19. Does this change lead to a known medical condition, or is it benign? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | TCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCATTCCTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTG... | TCTGACCTAACCAACTCCATCTTGCCTTTAATCTCCAAACTGCCCTTGCTTGGTCATTCCTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTG... |
Task1_train_26573 | The gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) is located on Chromosome 19, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Congenital dyserythropoietic anemia type 4 | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... |
Task1_train_26574 | Gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) on Chromosome 19 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... |
Task1_train_26575 | A mutation in KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... | CTGGAGTGGGGTCAAGCTAACTTTTTTTTTTTTTTTGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAA... |
Task1_train_26576 | Given this context: Chromosome 19, gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | TGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTT... | TGACACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTT... |
Task1_train_26577 | Located on Chromosome 19, this mutation impacts KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGA... | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGA... |
Task1_train_26578 | A variant affecting Chromosome 19, within the gene KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Congenital dyserythropoietic anemia type 4 | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGA... | ACGTTGTCTCACTCTGTCGCCCAGGCTGGAGTCCAGTGGTGTGATCTCAGCTCACTGCAACATCCGCCTCCTAGGTTCAAGCAATCCTCCTGCCTCAGCTTCCTGAGTAGCTGGGATTACAGGCATGCGCCACATGCCCAGCTAATTTTTGTATTTTTGGTAGAGACTGGGTTTCACCATTTTTGGTAGAGATGGGGTTTCACCTTGGGGCTCAGGCTGGTGTCGAACTCCTGGGCTCAAGTGATCTGCCCGCCTCAGCCTGCCAAATTGCTGGGATTAAAGAGGGAGCCACCATGCCTGGCCCCAAGCTAATTTTGGGA... |
Task1_train_26579 | A mutation in KLF1, LOC117125591 (KLF transcription factor 1| CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; BLOOD GROUP--LUTHERAN INHIBITOR | AGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTA... | AGCTTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTA... |
Task1_train_26580 | This alteration in LOC117125591, KLF1 (CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element| KLF transcription factor 1) on Chromosome 19 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; not provided | TTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGC... | TTAAATGATAATAGCCCTTCCCCAAACTAAACTGCCTTTGTAGAAATAATGAAAGGGCACTAGGTTAGGAGGATGAGAGGAGCCTGAATTCTGCTAAACTGTAGGTGTAGTAGTTAAATTATGACCAGCCATTTTTCCGGCCGGGTGCGGTGCCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGCTGGCAGATTACCTGAGGTCAGGATTTCGAAACCAGCCTGGCCAGCATTTCGAAACCCCATCTCTTCTAAAAATACAAAAATTAGCCCGGCATGGTGGCATGTGCCTGTAATCCTAGCTACCTGGTAGGC... |
Task1_train_26581 | This variant affects gene GCDH, LOC117125594 (glutaryl-CoA dehydrogenase| H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:13001481-13002118 and GRCh37_chr19:13002119-13002756) located on Chromosome 19. Evaluate its biological effect and specify any disease association. | Pathogenic; Glutaric aciduria, type 1 | CCTCAGGTGACCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGG... | CCTCAGGTGACCCACCCTCCTTGGCCTCCCAAAGTGCTGGGATGACAGGCATGAGCCGCCCCAGCCAGTCAAAACCTACACTTTATACAGTCACACCACCGGTCACTTTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGG... |
Task1_train_26582 | A mutation in GCDH (glutaryl-CoA dehydrogenase), located on Chromosome 19, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Glutaric aciduria, type 1 | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAA... | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAA... |
Task1_train_26583 | This sequence change occurs on Chromosome 19, altering GCDH (glutaryl-CoA dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not specified | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAA... | TTTACAATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAA... |
Task1_train_26584 | A sequence alteration has been identified in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19. Is it disease-inducing or harmless? | Pathogenic; Glutaric aciduria, type 1 | AATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAA... | AATATGTAAAGTAATTATTTAGTCACAGTTGCATAGCTACCAGTGCCCAACCGTAGGGGATGCACCCAGTTAAACACAGACAAACGCAAGGACATGGCATCACAGGTCCTGAGAATCAAGACACACACATTTCTCAACAGATACACAATCAGAATGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAA... |
Task1_train_26585 | This variant affects the gene GCDH (glutaryl-CoA dehydrogenase) found on Chromosome 19. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTC... | TGGGTGCACCACAAATGCACTACACAAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTC... |
Task1_train_26586 | A variant affecting Chromosome 19, within the gene GCDH (glutaryl-CoA dehydrogenase), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Glutaric aciduria, type 1 | AAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAT... | AAAAAGACAAAACAGGCGGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGGTGAAACCCGTCTCTATTAAATATAAGAAAAAAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGTAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCTACTGCACTCCAGCCTGGGCAACAGAGTGAGAATCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAT... |
Task1_train_26587 | A genomic change on Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | TTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTG... | TTTAGGGACTTTCCGGGGTGACTTTCCCGTTCTGTGCTTGCAGAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTG... |
Task1_train_26588 | Located on Chromosome 19, this mutation impacts GCDH (glutaryl-CoA dehydrogenase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; not specified | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTG... | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTG... |
Task1_train_26589 | A genomic change on Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Glutaric aciduria, type 1 | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTG... | GAGAAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTG... |
Task1_train_26590 | This alteration occurs within gene GCDH (glutaryl-CoA dehydrogenase) located on Chromosome 19. Is it associated with a disease or is it a benign variant? | Pathogenic; Glutaric aciduria, type 1 | AAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGAC... | AAAGGCGGGAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGAC... |
Task1_train_26591 | A mutation found in GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Glutaric aciduria, type 1 | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGA... | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGA... |
Task1_train_26592 | Given this context: Chromosome 19, gene GCDH (glutaryl-CoA dehydrogenase) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not specified | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGA... | GAGAACACAGAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGA... |
Task1_train_26593 | A variant found in Chromosome 19 affects GCDH (glutaryl-CoA dehydrogenase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Glutaric aciduria, type 1 | GAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTT... | GAGCCAACTGGCTAAGTGTAAGGACCTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTT... |
Task1_train_26594 | This is a variant in GCDH (glutaryl-CoA dehydrogenase), located on Chromosome 19. Is this mutation a likely cause of disease or not? | Pathogenic; Glutaric aciduria, type 1 | CTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGAC... | CTCTGGTCGCACCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGAC... |
Task1_train_26595 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glutaric aciduria, type 1 | CCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCC... | CCGTGTGTCTGCTGCCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCC... |
Task1_train_26596 | This sequence change occurs on Chromosome 19, altering GCDH (glutaryl-CoA dehydrogenase). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Glutaric aciduria, type 1 | CCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGG... | CCCCTGTTCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGG... |
Task1_train_26597 | Mutation context: Chromosome 19, Gene GCDH (glutaryl-CoA dehydrogenase). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Glutaric aciduria, type 1 | TCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCT... | TCAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCT... |
Task1_train_26598 | Gene GCDH (glutaryl-CoA dehydrogenase) on Chromosome 19 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Glutaric aciduria, type 1 | CAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTG... | CAGCTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTG... |
Task1_train_26599 | This genomic variant is located on Chromosome 19, within the GCDH (glutaryl-CoA dehydrogenase) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Glutaric aciduria, type 1 | CTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACC... | CTGTCTGTCTGCCGCAGGTGGACTCTGTCCCAGAATCCGAGAGCTGCCCGAGCGGGGTGGCAGGGTCGTGGCCAGGGTCAGAGGCACTAAGGCAGTGAGTGCGCTGTGCCTGCGGGGCCGGAGAAAAGTCACCTGATCAGTCTCGCTTGCAGCTCGCACTAGCCGGGGGGCGACATGGGTGTTGGGGGGTAGGGCTGATGAGGGTCCGAGAAGGGAGGGCACAGTGATCTTGCGGACTGGACCGAGGCGAATTCCCCTTCCCAGCCTCGCGTCCCGAGTTTGACTGGCAGGACCCGCTGGTGCTGGAGGAGCAGCTGACC... |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.