ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_24600 | This sequence variant lies in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Pancreatic cancer, susceptibility to, 4 | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24601 | A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Fanconi anemia, complementation group S | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... |
Task1_train_24602 | A variant affecting Chromosome 17, within the gene BRCA1 (BRCA1 DNA repair associated), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTA... | ATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTA... |
Task1_train_24603 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... |
Task1_train_24604 | A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... |
Task1_train_24605 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; BRCA1-related cancer predisposition | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... |
Task1_train_24606 | Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary breast ovarian cancer syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24607 | A mutation found in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Hereditary cancer-predisposing syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24608 | Here is a genetic alteration in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24609 | The following genetic variant occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Hereditary cancer-predisposing syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24610 | Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary breast ovarian cancer syndrome | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24611 | Gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Familial cancer of breast | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24612 | This genomic variant is located on Chromosome 17, within the BRCA1 (BRCA1 DNA repair associated) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... |
Task1_train_24613 | Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hereditary breast ovarian cancer syndrome | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... |
Task1_train_24614 | Here is a variant affecting BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Hereditary cancer-predisposing syndrome | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... |
Task1_train_24615 | Assess the clinical impact of this variant on gene BRCA1 (BRCA1 DNA repair associated), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... | CCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAAT... |
Task1_train_24616 | This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATT... | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATT... |
Task1_train_24617 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATT... | CTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATT... |
Task1_train_24618 | A mutation on Chromosome 17 affecting BRCA1 (BRCA1 DNA repair associated) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTA... | AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTA... |
Task1_train_24619 | Mutation context: Chromosome 17, Gene BRCA1 (BRCA1 DNA repair associated). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAA... | GAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAA... |
Task1_train_24620 | A genetic alteration is present in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... |
Task1_train_24621 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... |
Task1_train_24622 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Hereditary breast ovarian cancer syndrome | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAG... | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAG... |
Task1_train_24623 | This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAG... | TTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAG... |
Task1_train_24624 | This variant affects the gene BRCA1 (BRCA1 DNA repair associated) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGA... | TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGA... |
Task1_train_24625 | A variant was discovered in gene BRCA1 (BRCA1 DNA repair associated), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... |
Task1_train_24626 | This variant affects gene BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Hereditary breast ovarian cancer syndrome | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... | CGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTG... |
Task1_train_24627 | An alteration has been detected in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary cancer-predisposing syndrome | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... |
Task1_train_24628 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Breast neoplasm | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... |
Task1_train_24629 | A variant has been detected on Chromosome 17 in BRCA1 (BRCA1 DNA repair associated). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... |
Task1_train_24630 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary breast ovarian cancer syndrome | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... | GTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGC... |
Task1_train_24631 | This mutation occurs in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCA... | TATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCA... |
Task1_train_24632 | A genomic change on Chromosome 17 affects BRCA1 (BRCA1 DNA repair associated). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAG... | TTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAG... |
Task1_train_24633 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTA... | GCTTTTTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTA... |
Task1_train_24634 | Consider a variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated). Determine its clinical classification and disease relevance. | Pathogenic; Hereditary breast ovarian cancer syndrome | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCAT... | TTCAAAAGCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCAT... |
Task1_train_24635 | A change on Chromosome 17 affects gene BRCA1 (BRCA1 DNA repair associated). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATA... | GCAGTTTTTTCCTACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATA... |
Task1_train_24636 | A sequence alteration has been identified in BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATT... | TACAATGTCATTTCCTGCTTCTCTGGCTCTGATTTTCAATAAATTGATAAATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATT... |
Task1_train_24637 | Given a variant located on Chromosome 17 and affecting BRCA1 (BRCA1 DNA repair associated), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGA... | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGA... |
Task1_train_24638 | Gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGA... | ATTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGA... |
Task1_train_24639 | This variant impacts the gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Hereditary cancer-predisposing syndrome | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... |
Task1_train_24640 | This variant lies on Chromosome 17 and affects the gene BRCA1 (BRCA1 DNA repair associated). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hereditary breast ovarian cancer syndrome | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... |
Task1_train_24641 | A mutation in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... | TTGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAG... |
Task1_train_24642 | The gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary breast ovarian cancer syndrome | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... |
Task1_train_24643 | Given this variant in gene BRCA1 (BRCA1 DNA repair associated) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Breast-ovarian cancer, familial, susceptibility to, 1 | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... |
Task1_train_24644 | This is a variant in BRCA1 (BRCA1 DNA repair associated), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Breast neoplasm | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... |
Task1_train_24645 | Here’s a variant in BRCA1 (BRCA1 DNA repair associated) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Inherited breast cancer and ovarian cancer | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... |
Task1_train_24646 | A variant on Chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Hereditary cancer-predisposing syndrome | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... | TGTGAATCCTGTTTTCCTCTTATTTTTGTTTAGCTATAATGTTGAAGGGCAAGGGAGAGGATGGTTATTTATAAATCTTGTATCGCTCTGAAAACACAACATACATTTTCCTTAATCTGATTAACTTGACTTCAAATATGAAAAACAACTTTCATAAAGCAGAAAAGAATTTACCCTTTTTTATTGTGGGTAAGAGGCAATGGTACAACTTTTCAACTTATTTTTTGAATGTTACTCACTACTAACCATCACCATATTTAAAAAAATTAAAGAACTAATTTAGTTTAGTTTATTATTTATTTGACAAATGTTTATTGAGT... |
Task1_train_24647 | This variant impacts the gene MEOX1 (mesenchyme homeobox 1) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Klippel-Feil syndrome 2, autosomal recessive | ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAG... | ATGGGATATTTTTTCTTATGTCATTTTTTACTACTATTAATATACATTTTTCTACCTTGAAAAATAAAATCTCCAAACTTTGAATTTAAACATTAGGGATGGTTACTTTGTGGTCAAGATTCCTTTATTAACAAAAGAGTTCATCTTTTGTTTATAAAACATTGACTATTTGATAGGTCATAGTTTAGGGAAACTGAAAGCTAAACTTTTACAATGAGAAATGAAGACCATGCATTTGCATTGGAGAAAAATTTTTTTTTGGCACCAATTATATTTTGTACCCACCTTTTGAAAAACTAAAGGGGGACAGCTCTGTCTAG... |
Task1_train_24648 | The variant affects gene SOST (sclerostin), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Craniodiaphyseal dysplasia, autosomal dominant | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAAT... | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAAT... |
Task1_train_24649 | This variant affects the gene SOST (sclerostin) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; SOST-related disorder | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAAT... | TACTGTCGTTACTTTCCTACCATAGGGGCCCTGAGCTCTGACCCAAAACCTACAGGTTCAGCTGCCACAAACATTGACCTGGCTCTCTGCTGGGCACATTTCTTGTTCTGTGTTATCTGAATGGGCGCCTCATGGTGATACTCCCTGGGCAGGCAGAGATTGGGCTCCGAGGCCTGGCCTGATCCCCTGCACACACCTTGACCATGTCTCCTATGGTGGACTTAGATGGGTGGGAGCTTTTTAAATAGCTGGTCGTCGTGTGAGTACCAGTCCACCCCCAAAGGTTTCATGGGGATAGTTCCAATGTGACAAGAAAGAAT... |
Task1_train_24650 | The gene NAGS (N-acetylglutamate synthase), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hyperammonemia, type III | AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTC... | AGAATTCCTCAAGCTGGTACCCAGTGACTGGAGTTTGGCAAACCCTGGTAACCTCATGGTCATTCATTAGGATCTTTTTTGAGCTCAGGCAACAGGACAGACAAGGCCAGCACCACCCGCCCCCGCCCTCCCACTGCCCCCCTTCTTCTACTCTTTCCAGCGCCCTCCTTCCAGCCCCCTGCCCAGCCCTGTGCTCAAAGCCACCTACAGTCCCTTCTTCTCTGGTCAGAATGCCAATCATCCAAGGCCCTGCAGACTCCCAAAGCCGCCCCTGGAACCTACCTTGGCAGCAGATTAAAGACAACCCGCCACATTTAGTC... |
Task1_train_24651 | Given this variant in gene NAGS (N-acetylglutamate synthase) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hyperammonemia, type III | CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCG... | CCAGGCTGTGGGAGCCAGCGGCTCAGGTCCGTGTCACGCTCCTTGAAAGCCCACTCCTCCGCAGGTGGACGAGGAGGTGCTCAAGTGCCAGCAGGGCGTATCCAGTCTGGCCTTTGCCCTGGCCTTCTTGCAGCGCATGGACATGAAGCCGCTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCG... |
Task1_train_24652 | A variant found in Chromosome 17 affects NAGS (N-acetylglutamate synthase). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Hyperammonemia, type III | CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGG... | CTGGTGGTCCTGGGGCTGCCGGCCCCTACGGCTCCCTCGGGCTGTCTTTCCTTCTGGGAGGCCAAGGCGCAGCTGGCCAAGAGCTGCAAGGTGCTGGTAGACGCGCTTCGACACAACGCCGCCGCTGCTGTGCCATTTTTTGGCGGCGGGTCTGTGCTACGCGCTGCCGAGCCGGCTCCCCATGCCAGGTGAGTGCCCGCCCTGCCCGCCCAGGCGTCCTCAGAGCGTGCTACTCTGCCCGCCCTGCCCCGTCCGGCAGGCCTGGAGGGGGCCCTCTCGAGCACCACGTCTGGCCCACAGCTACGGCGGCATCGTCTCGG... |
Task1_train_24653 | This sequence change occurs on Chromosome 17, altering G6PC3, LOC130060959 (glucose-6-phosphatase catalytic subunit 3| ATAC-STARR-seq lymphoblastoid active region 12250). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGG... | AAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCATCCTGGGGGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACTTCCTGGTGTTGGAGGTATTGGTATAATCATTGTAATAGGAATAAAAATTCTGTTCACTACAAAGGCAATAAACGAAGATTTATATCCAGCTTCCCTCCTTTACACCTTTTTTTTTTTTTGGAGACGGAATTTCTGTCTTGTTGCCCAAGCTGG... |
Task1_train_24654 | This is a variant in G6PC3 (glucose-6-phosphatase catalytic subunit 3), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTAT... | TTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGCGTGCAATGGCATGATCTTGGCTCACTGAAACCTCTTTGTCTCTCAGGTTCAAGAGATTCTTCTGCCTCAGCCTCCCCAGTAGCTGTGATTATCGGCACCCACCACCACGCCCGGCTAATTTTTTATTTCTAGTAGAGACAGGGTTTCACCTTGTTGGTCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCCTCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCACCGCCGTTCATTTTCTGTGTGAGCACTTGTTGTAT... |
Task1_train_24655 | Given a variant located on Chromosome 17 and affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGAC... | GGCAGGGGTAGCAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGAC... |
Task1_train_24656 | A mutation found in G6PC3 (glucose-6-phosphatase catalytic subunit 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACAC... | CAGGAGGGTTAGTGAGGGCCTGGAGGAGAGAGCTGGGTCCTGGACTCTCTGTGGATGATAAGAGCTGGCCTTGCAGTGAGAGGGGGTAGAGTGGGACGGCTGAGTATCTCAGAGCACACACACGGCTTACCACAATCTCTTGCCTCTGTATCAGTTTTATTTTTTATTTTATTCACTTTTTCTTTTTTTGAGACAGGATCTCACTCCATCACCAGGCTGGAGTACAATGGCACAATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGTGATCCTTCCCACTTCAGCCTCTGGAGTAGCAGGGACTACAGGCACAC... |
Task1_train_24657 | This alteration occurs within gene G6PC3 (glucose-6-phosphatase catalytic subunit 3) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTG... | CAGCCTCCCAAGTAGCTGAGACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTG... |
Task1_train_24658 | The variant affects gene G6PC3 (glucose-6-phosphatase catalytic subunit 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTT... | ACTATAGGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTT... |
Task1_train_24659 | A variant was discovered on Chromosome 17, affecting G6PC3 (glucose-6-phosphatase catalytic subunit 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACT... | GGTGTGCACCACCACTTCCAGCTAATTTTTTGTTTTTGTTGAATCTGGGTCTTGCTATGTTGCCCAGGCTGGTCATGAACTCCTGGCTTCAAGTGATCCTCCAGCTAAGGCCTCCCAAAGTACTGGGATTACAGTCATGAGCCACTGTACCTGGCCCCAGACTAGTTTTTAAAAATAGTGTTTCCACAGGCTGAGGGTTAGGAAAAAAAAAAGAAAAGAAATAGTGTGCTTTCTTTCTCCTGTTCTAAGGTAGAAAACCATGGCAAGGTATCCATGGATACCTTGAGAGCAGTGGACAGAATCGTAGTCCCTTTTTGACT... |
Task1_train_24660 | This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Hereditary spherocytosis type 4 | AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTC... | AAATAAATTTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTC... |
Task1_train_24661 | This sequence change occurs on Chromosome 17, altering SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCC... | TTGCCCATGTTCTTGGAGAGCCTGCTGTCTCCTACCCCAATTGGTCAGATCTGGGTTCTCCCCAAGATTCAGTTTAGATGGAGTTGAGGATAATGGCTCTCAAATGAGGGGCCTGAAGTTGTGTGTGAAGCCAAACTATGTTGAAAACTCTTAGAAAATACGCAATTAATAAATTACAAACCCCCTCACTCTCCCGCCCCTACCTTCCCACCCTCCCCCACTCCCTATCCAAATGTAGAATCAACTGTACCTTGCCCCCCACCCCCACCCCAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCC... |
Task1_train_24662 | The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Renal tubular acidosis, distal, with normal red cell morphology | CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGC... | CAGGGCAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGC... |
Task1_train_24663 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary spherocytosis type 4 | CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGT... | CAGGGCTTGTCTCAGTCCCCTCGGAGTCCACTGATTCCGGGGCCCTCAGTAAATGTTTGTGGAATGAATGAATGAGTGAACTAATGAGTGTTTGGAGGGAGGAACCAAACACTTAGGAGGCCTGAGTCCCAGGCCCAATCCCTGGATCATCCTTGCCTGTACCTTGTCCTCACCAGGACGCCTCTCTCTGGGCCCAGAGAAGAGGGTCTCAAGGTAGGGGCTGGGAGCAGAGTGGGGAAGGGAGGAGTCACAGGGGAAGGGAAAGTGGACGCATGACTGACAGAGGACAGAGCTCGGACCTTGAAATCAGAAGGCCTGGT... |
Task1_train_24664 | A variant has been detected on Chromosome 17 in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCT... | GAAGATGAGCGGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCT... |
Task1_train_24665 | A genetic alteration is present in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Cryohydrocytosis | GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTG... | GGCAGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTG... |
Task1_train_24666 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal dominant distal renal tubular acidosis | AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACC... | AGCAGGACGCGCCGCAGCGGCACAGTGAGGATGAGGACGAAGGGCAGGGCCAGGGAGGCCGGCGTGGACTTCACCACCCACAGCACTGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACC... |
Task1_train_24667 | A variant on Chromosome 17 in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; SLC4A1-related disorder | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24668 | This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24669 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Cryohydrocytosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24670 | A mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal dominant distal renal tubular acidosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24671 | A genomic change on Chromosome 17 affects SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Southeast Asian ovalocytosis | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24672 | This sequence variant lies in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; BLOOD GROUP--SWANN SYSTEM | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24673 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; BLOOD GROUP--WALDNER TYPE | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24674 | Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; BLOOD GROUP--FROESE | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24675 | A variant affecting Chromosome 17, within the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), has been observed. Determine if it's benign or associated with disease. | Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24676 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Hereditary spherocytosis type 4 | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24677 | An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Malaria, susceptibility to | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24678 | This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; BLOOD GROUP--DIEGO SYSTEM | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24679 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... | TGCCAGGCAGATGATCTGGATGCCCGTGAATAAGTGCATGCGCCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGA... |
Task1_train_24680 | Here is a genetic alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Cryohydrocytosis | CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAG... | CCAGGTCTTCACCTGCAGGCGGAGGCTGGGGTCAGTGCCTATCACACCCCAGCACCCTCTACCACCCCAGGCTGGGCAGCCAGAAAAGGGTCCTGTACCCGCTTGACGTAGGGCACATCTGGGTGATACTTGGGTGGCTTGAACAGAAGCAAGATGCGGTCAAAGAGCTGGATGCCGCTGAGCGACGTGACCCCCATGTAGAGGAAGATGCCAAACAGTACAGCCAGGGGGATGCGGGACAGGATGGGCTCCATGAGGATGGACAGGCCTGTGGGGGAGCCGCACACTCTCAGCCCAGGTTGCCCGAGGCCTGGCACCAG... |
Task1_train_24681 | Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Autosomal dominant distal renal tubular acidosis | CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAA... | CAGTGAGGGCGTTGGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAA... |
Task1_train_24682 | This variant affects the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Autosomal dominant distal renal tubular acidosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24683 | This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant? | Pathogenic; Southeast Asian ovalocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24684 | Given this context: Chromosome 17, gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Southeast Asian ovalocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24685 | An alteration has been detected in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Hereditary spherocytosis type 4 | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24686 | Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Malaria, susceptibility to | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24687 | A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cryohydrocytosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24688 | This is a variant in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), located on Chromosome 17. Is this mutation a likely cause of disease or not? | Pathogenic; Autosomal dominant distal renal tubular acidosis | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24689 | A change on Chromosome 17 affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24690 | Consider this mutation in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; BLOOD GROUP--WALDNER TYPE | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24691 | Assess the clinical impact of this variant on gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; BLOOD GROUP--FROESE | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24692 | Here is a variant affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; BLOOD GROUP--WRIGHT ANTIGEN | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24693 | This mutation is located in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; BLOOD GROUP--SWANN SYSTEM | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24694 | A variant was discovered in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; BLOOD GROUP--DIEGO SYSTEM | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... | GGCATGGGTGACGGAACGCACGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAA... |
Task1_train_24695 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAA... | CGGTGGTGGCACTGAGCCAGGGCATCCCAAAGAGGGCGGCCACCCCACCCATGCCTACTACCAGCAGCAGGTCCAGGTGGAAGCCGGAGCCCTTGACCATCTTGCGCTCAGGTTTGCTGACAATCAGCCTACGGTAGGGGAAGGTGAGGGGTAAGCAGGGTTCTCCCCTGCCTCCTCCACCCCCTCCTTCCTTCTCCATACTTGGTGTCCTTGTAGCTCAGTTTTGTCTTCTGTGCCCCTCGCTCTTTGAGTTCCTTGCTCCCCTCCCTCCCGCCCCATCTTGAGAATCCAAACTCTTAAGAGCAGAAATGTCTTCACAA... |
Task1_train_24696 | This variant impacts the gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; SLC4A1-related disorder | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24697 | The gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal dominant distal renal tubular acidosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24698 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Renal tubular acidosis, distal, 4, with hemolytic anemia | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
Task1_train_24699 | This genomic variant is located on Chromosome 17, within the SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Cryohydrocytosis | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... | CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTT... |
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