question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A mutation at chromosome position 61715945 on chromosome 17 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | AGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTAT... | AGAATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTAT... | pathogenic | 280,512 |
Chromosome 17, position 61715948, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['BRIP1-related_disorder', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | ATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGC... | ATAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGC... | pathogenic | 280,513 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome position 61715949 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCC... | TAAGGATATAAAAATTATTTTTGTACAGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCC... | pathogenic | 280,514 |
Is the chromosome 17, position 61715975 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast'] | AGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTA... | AGCTGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTA... | pathogenic | 280,522 |
Regarding the variant at chromosome 17 and position 61715978, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAG... | TGTATAATTTGTGTTTTAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAG... | pathogenic | 280,524 |
Evaluate if the mutation on chromosome 17 at position 61715994 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | TAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATG... | TAAGCTAAGTGTTGTAAAAGAGTCAAAAAGGTAAAAAAAAAGATAAAAAGATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATG... | pathogenic | 280,528 |
A genetic alteration at chromosome 17, position 61716043, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATGTCCTAGGCCTTCACATTCACTCACTACTTGATCGACTCACTCAGAGCAA... | GATAAAAAGTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATGTCCTAGGCCTTCACATTCACTCACTACTTGATCGACTCACTCAGAGCAA... | pathogenic | 280,547 |
The genetic variant at chromosome 17, position 61716051, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATGTCCTAGGCCTTCACATTCACTCACTACTTGATCGACTCACTCAGAGCAACTTATAGT... | GTTTATAAAGTAAAAAAGTTACAGCAAGCTGGGCACAGTGGCGTGTGCCTGGAGTTCCAGCTACTTGGGAGGCTAAGGTGAGAGGACTGCTTGAACCCAGGTGTTCGAGACCAGCCTGGGCAACATAGCCATACCTCATCTCTCAAAAAGAAAAAGTCAGAATAAGCTCAGGGTAATTTATTATTGAAAAAATAAAAATAAATAAATTTAGTATAGCCTAAGTGTACAGTGTTTATAAAGCCTACAGTTAGTGTACAGTAATGTCCTAGGCCTTCACATTCACTCACTACTTGATCGACTCACTCAGAGCAACTTATAGT... | pathogenic | 280,550 |
Considering the genetic mutation at chromosome 17, position 61742992, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTTCCTTTCACAATAGATTTCTCTGTGGCATAAGATGCTCTTTGATAGCATTTTACCCAACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATT... | CTTCCTTTCACAATAGATTTCTCTGTGGCATAAGATGCTCTTTGATAGCATTTTACCCAACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATT... | pathogenic | 280,559 |
Does the variant impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17, position 61743033, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTGATAGCATTTTACCCAACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTT... | TTGATAGCATTTTACCCAACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTT... | pathogenic | 280,570 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61743050, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCAT... | AACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCAT... | pathogenic | 280,575 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61743050—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCAT... | AACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCAT... | pathogenic | 280,576 |
Clinical significance of chromosome 17, position 61743051, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATC... | ACATAAAACTTCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATC... | pathogenic | 280,577 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61743061, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGA... | TCTTTCAAAATTGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGA... | pathogenic | 280,578 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61743072: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATG... | TGGGGTCAAGCCTCTCAAACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATG... | pathogenic | 280,581 |
Is the variant located on chromosome 17 at position 61743090, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAA... | ACTCTGCCGCTGCTTCATGCACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAA... | pathogenic | 280,587 |
Does the genetic variant at chromosome 17, position 61743110, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | ACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCC... | ACTAAGTTTATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCC... | pathogenic | 280,592 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61743118, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGA... | TATTTAATATTCTAACTCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGA... | pathogenic | 280,595 |
A genetic variant at chromosome 17, position 61743135, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAA... | CCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAA... | benign | 280,600 |
Benign or pathogenic: chromosome 17, position 61743137, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant? Disease(s) if pathogenic? | benign | TTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATG... | TTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATG... | benign | 280,603 |
Variant at chromosome 17, position 61743137, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | TTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATG... | TTTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATG... | benign | 280,604 |
Does the variant on chromosome 17 at location 61743138 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGG... | TTGTTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGG... | benign | 280,605 |
Does the genetic variant at chromosome 17, position 61743141, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | TTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGGCAT... | TTGTCATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGGCAT... | benign | 280,607 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61743146: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGGCATCTAGA... | ATTTCAACAATGTTCACAGCATCTTTACTAAGAATAGTTCCTATCTCAAGAAACCACTTTCTTTGCTCATCCATAAAATGCAACTCCTCATCTGTTCAAGTGTCCTCATGAGATTGCAGCAATTTAGTCACGTCTTAAGCTCCACTTCTAATTTAGTTCTCTTATTATTTCCACCACAGCTACAGTTACTTCCTCCACTGAACTCTTAACTCCCTCAGAGTCATCCAATGAGGGATGGAATCAATGACTTCCAAACTCCTGTAAGTGTTGATATTCTGACCTCCTCCCATGAATCATGAATGTTCTTAATGGCATCTAGA... | benign | 280,611 |
Is the genetic variant on chromosome 17, position 61744432, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | CCTTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGA... | CCTTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGA... | pathogenic | 280,621 |
Clinically, how would you classify the variant at chromosome 17, position 61744434, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Gastric_cancer', 'Hereditary_cancer-predisposing_syndrome'] | TTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGA... | TTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGA... | pathogenic | 280,622 |
Chromosome 17, position 61744434, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGA... | TTTGCATTCACAATATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGA... | pathogenic | 280,623 |
Is the genetic variant on chromosome 17, position 61744448, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAAT... | ATGGCTAATTGGTTGGTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAAT... | pathogenic | 280,627 |
Does the genetic variant at chromosome 17, position 61744463, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATC... | GTGCAAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATC... | pathogenic | 280,634 |
Variant on chromosome 17, at position 61744467, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAG... | AAGAGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAG... | pathogenic | 280,637 |
Considering the genetic mutation at chromosome 17, position 61744470, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATC... | AGGCCTAGCTTTTGTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATC... | pathogenic | 280,639 |
Determine whether the variant at chromosome 17, position 61744483, in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGAT... | GTCTTGTCTCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGAT... | pathogenic | 280,645 |
Determine if the mutation at chromosome 17, position 61744491 in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAA... | TCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAA... | pathogenic | 280,646 |
Located at chromosome 17 position 61744491, the variant affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAA... | TCAGCTTTCAATATGCCTTGCTCACTAAGCTTAATCATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAA... | pathogenic | 280,647 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61744526, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | CATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGT... | CATGTCTCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGT... | pathogenic | 280,655 |
Is the genetic variant on chromosome 17, position 61744532, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAAT... | TCGCCTTTGATTTAAAGTAGGAAGCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAAT... | pathogenic | 280,657 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61744555, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAAC... | GCATGCAACACTTCCTTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAAC... | pathogenic | 280,666 |
A genetic alteration at chromosome 17, position 61744570, in gene BRIP1 (BRCA1 interacting DNA helicase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCT... | TTTCACTTGAACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCT... | pathogenic | 280,676 |
Does the genetic variant at chromosome 17, position 61744579, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAA... | AACACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAA... | pathogenic | 280,679 |
Does the genetic variant at chromosome 17, position 61744581, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAAT... | CACTCTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAAT... | pathogenic | 280,681 |
Gene BRIP1 (BRCA1 interacting DNA helicase 1) variant at chromosome position 61744585 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTG... | CTGGGGCCATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTG... | pathogenic | 280,682 |
Determine whether the variant at chromosome 17, position 61744593, in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | ATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGA... | ATTGTAGGGTTATTAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGA... | benign | 280,685 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61744606, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | benign | TAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGACTTGCACAATGCA... | TAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGACTTGCACAATGCA... | benign | 280,692 |
Does the variant impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17, position 61744606, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGACTTGCACAATGCA... | TAACTGGCCTAATTTCAGTATTGTTGTGTCTCAGGGAATGGAGAGTCCCAAGGAGAGAGAAATGGGGGAAGGGTAGTCAGTGGAGCAGTTAGAATACATACATCACTTATGAATTACGTTTGCTCTCTTATGTGGGTACAGTATGAGATGCCCCAAAACAATTACAATAGTAACATCAAAGATCACTTATCACAGATTACCCTAACAGTATAATAATAATGAAAAGGTTTGAAATATCGTGAGAATTAACCCAAATGTGAAACAGAAACAAGTGACCACATGCTGTTGGAAAAATGGTGCTGAAAGACTTGCACAATGCA... | benign | 280,693 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61776412, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCATAGGTGGGAATTGAACAATGAGAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAA... | TCATAGGTGGGAATTGAACAATGAGAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAA... | pathogenic | 280,708 |
Classify the chromosome 17 variant at position 61776418 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Gastric_cancer'] | GTGGGAATTGAACAATGAGAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAAC... | GTGGGAATTGAACAATGAGAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAAC... | pathogenic | 280,710 |
Variant at chromosome position 61776436, chromosome 17, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTAT... | GAACATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTAT... | pathogenic | 280,712 |
Assess the variant on chromosome 17, position 61776439, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATT... | CATGTGGACGCAGGGTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATT... | pathogenic | 280,715 |
Clinical classification of chromosome 17, position 61776453, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTG... | GTAGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTG... | pathogenic | 280,720 |
Evaluate if the mutation on chromosome 17 at position 61776455 in BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | AGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTG... | AGGGAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTG... | pathogenic | 280,721 |
Gene mutation in BRIP1 (BRCA1 interacting DNA helicase 1) at chromosome 17, position 61776458—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm', 'Uterine_corpus_cancer', 'likely other unspecified diseases'] | GAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCT... | GAACATCACACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCT... | pathogenic | 280,722 |
Chromosome 17, position 61776467, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTA... | ACACTGGGGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTA... | pathogenic | 280,726 |
A genetic variant on chromosome 17, position 61776474, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAA... | GGCCTGTTCTGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAA... | pathogenic | 280,729 |
Variant chromosome 17, position 61776483, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | TGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAG... | TGGGGTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAG... | pathogenic | 280,732 |
A genetic variant at chromosome 17, position 61776487, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['BRIP1-related_disorder', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)'] | GTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGA... | GTGGGGGCCTAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGA... | pathogenic | 280,733 |
Variant on chromosome 17, at position 61776527, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_cancer'] | AATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACT... | AATGTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACT... | pathogenic | 280,744 |
Regarding the variant found on chromosome 17 at position 61776530 in gene BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACTAAA... | GTAAATGACGAGTTGATGGGTGCAGCAAACCAGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACTAAA... | pathogenic | 280,745 |
Evaluate this variant at chromosome 17, position 61776561, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACTAAAAAGTTATTTCAATGTTATAGTCTCTAGTCAC... | AGCATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAAAGAAACTATGAGATAATAAATGTTTACTGTTTTAAGCCACAAAAAAATTAAACAAAAACCTGCAGAACAATTAATTTCGCAATCAAAGAAATAAACTCAATTGGAACAAAGTATATTCGAAGGATTTCCTGTGTCTTTATTTTTAATTGAAAAGCTAGAAGCAGAAAAATAATCTATTCATTTTGCTAATATATATACAGTCACTAAAAAGTTATTTCAATGTTATAGTCTCTAGTCAC... | pathogenic | 280,754 |
Variant at chromosome 17, position 61780306, gene BRIP1 (BRCA1 interacting DNA helicase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACTTATATGAAGTATTTATAGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATT... | ACTTATATGAAGTATTTATAGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATT... | pathogenic | 280,779 |
Classify the chromosome 17 variant at position 61780307 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CTTATATGAAGTATTTATAGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTC... | CTTATATGAAGTATTTATAGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTC... | pathogenic | 280,780 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61780325, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAA... | AGTAATCAGATTCATAGAAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAA... | pathogenic | 280,785 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 61780342, gene BRIP1 (BRCA1 interacting DNA helicase 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['BRIP1-related_disorder', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | AAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGT... | AAACAGAAAGCAGAATGGTAGTTACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGT... | pathogenic | 280,787 |
Mutation at chromosome 17, position 61780364, within BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGTAGGCTGAGAACATAGAGCCTGT... | TACCAGGAGCTGAGGAGAGGGGGAGAATAGAGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGTAGGCTGAGAACATAGAGCCTGT... | pathogenic | 280,791 |
Is the genetic variant on chromosome 17, position 61780394, gene BRIP1 (BRCA1 interacting DNA helicase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGTAGGCTGAGAACATAGAGCCTGTAATAACATTCTTATGAGAAAACGTATGCTG... | AGAGCTGTTGTTTAATGGGAACAGAGTTTCAGTTTTTCAAGAGGAGAAAGTCTTGAGATTGGTTGCACAACAACATATACATACTTAATAAGACTGAGCTGTATACTCAAAAATGGTTAAGATGGTAAATTTTATATATATTCTACCACAATTAAAAGTTTTTTAAATTTTAAGTTGAAGGAAAATATTACAGTGTAACAGAATCCAGCTGCACAACTACATTATTATAATTCAGCGACATTATAGGTTAAATGGACTTTTGTGCAGTAGGCTGAGAACATAGAGCCTGTAATAACATTCTTATGAGAAAACGTATGCTG... | pathogenic | 280,797 |
Chromosome 17, position 61780842, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CACAATTCTTAGTTACATAGGAGTAGCATTCTAGGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACA... | CACAATTCTTAGTTACATAGGAGTAGCATTCTAGGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACA... | pathogenic | 280,815 |
Variant on chromosome 17, at position 61780863, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGTAGCATTCTAGGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGA... | AGTAGCATTCTAGGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGA... | pathogenic | 280,824 |
Chromosome 17, position 61780875, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTA... | GGTTCCCAACTACCAAATGCCGTAGTTGCTCCCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTA... | pathogenic | 280,828 |
Does the variant on chromosome 17 at location 61780906 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | CCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGC... | CCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGC... | pathogenic | 280,837 |
The mutation impacting BRIP1 (BRCA1 interacting DNA helicase 1) on chromosome 17 at position 61780906: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGC... | CCAAGTAATTGTGAGGACCAAAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGC... | pathogenic | 280,839 |
For chromosome 17, position 61780926, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCA... | AAAATGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCA... | pathogenic | 280,842 |
Considering the genetic mutation at chromosome 17, position 61780930, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Carcinoma_of_colon', 'Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTA... | TGTTCCCACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTA... | pathogenic | 280,844 |
Is the chromosome 17, position 61780936 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATC... | CACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATC... | pathogenic | 280,846 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 61780936, gene BRIP1 (BRCA1 interacting DNA helicase 1): what disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | CACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATC... | CACCTATAAACCTGTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATC... | pathogenic | 280,847 |
Benign or pathogenic: chromosome 17, position 61780949, gene BRIP1 (BRCA1 interacting DNA helicase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGA... | GTGTATATAGCTTAATAAAGAGCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGA... | pathogenic | 280,853 |
The chromosome 17, position 61780970 genetic variant in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome'] | GCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAA... | GCTAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAA... | pathogenic | 280,857 |
Mutation found at chromosome 17 position 61780972, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAAGA... | TAGCATTGTGTTAGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAAGA... | pathogenic | 280,858 |
Does the variant on chromosome 17 at location 61780984 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAAGAATCAGGATACAC... | AGGCACACAGGTGATGTTAACTTAACCACTTTAGCATTAACCACAGCTTAACATCACCTGTGTGCCTAACCACTTTAAAATATTTCATAAAAAGAAACCAGAAGGCATAATGAAAAATAACAATCTATACATTTCCACAAAAATTAAAATAACATTTAGTAGCCATCGTTATAAAACATTAAAATCTTAAATCATAGGACTCATAAGAGTACTTTTAACTCATTTCAGATATTCAAACATGCTGAACACTTGCTAAATACCAGCTATTAATCTAGGCACAGAGGAAGAACGTGGATGTAAAAGGAAGAATCAGGATACAC... | pathogenic | 280,863 |
A mutation at chromosome position 61784275 on chromosome 17 in gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ATACAAAAAATTAGCCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAG... | ATACAAAAAATTAGCCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAG... | pathogenic | 280,880 |
Variant on chromosome 17, at position 61784283, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | AATTAGCCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTAT... | AATTAGCCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTAT... | pathogenic | 280,884 |
Variant on chromosome 17, at position 61784289, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAA... | CCGGGCTTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAA... | pathogenic | 280,887 |
Does the chromosome 17 mutation at position 61784303 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACC... | GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACC... | pathogenic | 280,890 |
The genetic variant at chromosome 17, position 61784354, affecting gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | AACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGAC... | AACCCGGGAGGCTGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGAC... | pathogenic | 280,897 |
Does the chromosome 17 mutation at position 61784387 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | TCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAA... | TCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAA... | pathogenic | 280,906 |
Clinical classification of chromosome 17, position 61784387, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAA... | TCGCGCCACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAA... | pathogenic | 280,907 |
Variant on chromosome 17, at position 61784394, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | ACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAAC... | ACTGCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAAC... | pathogenic | 280,910 |
Variant on chromosome 17, at position 61784397, affecting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAA... | GCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAA... | pathogenic | 280,912 |
Is the genetic mutation found on chromosome 17 at position 61784397, within the gene BRIP1 (BRCA1 interacting DNA helicase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAA... | GCACTCCAACCTGGGTGACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAA... | pathogenic | 280,913 |
Classify the chromosome 17 variant at position 61784414 affecting gene BRIP1 (BRCA1 interacting DNA helicase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | ACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAA... | ACAGAGCGAGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAA... | pathogenic | 280,918 |
Mutation found at chromosome 17 position 61784422, gene BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Ovarian_neoplasm'] | AGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAAAAGTGGGC... | AGACTCCCGTCTCAGAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAAAAGTGGGC... | pathogenic | 280,922 |
Does the chromosome 17 mutation at position 61784436 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAAAAGTGGGCAAAAGACTTCAATA... | GAAAAAAAAAAAAAAAAAGGAAAAGAAAACATAGGGGAAATCTTCATATCAGATTTGGCCATGATTTACTGGATGTGACACTAAAAGTACAGGCAACAACAAGAAAAGAGAAAGATAAATTGGACTTCAACAAGATTAAAAACCTTTTCTGCATCAAAGGACACTATGAATAAATGAAAAAACAACCCACAGAATGAGAGAAAATATTTGTAAAGTATATATCTCTTACAGGACTGACATCCAGAATATCTAAATAACTACAGCTCAACAACAACAACAAAAAAACCCAATAATTCAAAAGTGGGCAAAAGACTTCAATA... | benign | 280,927 |
Chromosome 17, position 61793582, gene BRIP1 (BRCA1 interacting DNA helicase 1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTCCCAACAATGAACCAATTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGA... | CTCCCAACAATGAACCAATTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGA... | benign | 280,935 |
A genetic variant on chromosome 17, position 61793582, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTCCCAACAATGAACCAATTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGA... | CTCCCAACAATGAACCAATTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGA... | benign | 280,936 |
Determine if the mutation at chromosome 17, position 61793600 in gene BRIP1 (BRCA1 interacting DNA helicase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | TTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAA... | TTCTGACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAA... | pathogenic | 280,944 |
A genetic variant on chromosome 17, position 61793604, affects the gene BRIP1 (BRCA1 interacting DNA helicase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome'] | GACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAAC... | GACAACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAAC... | pathogenic | 280,945 |
Is the chromosome 17, position 61793608 variant in BRIP1 (BRCA1 interacting DNA helicase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | ACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGG... | ACCACTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGG... | pathogenic | 280,947 |
Assess the variant on chromosome 17, position 61793612, impacting BRIP1 (BRCA1 interacting DNA helicase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGA... | CTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGA... | pathogenic | 280,948 |
Mutation at chromosome 17, position 61793612, within BRIP1 (BRCA1 interacting DNA helicase 1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGA... | CTCGCACATGAGAGTACCTTTGTTAAGAGTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGA... | pathogenic | 280,949 |
Does the genetic variant at chromosome 17, position 61793640, impacting gene BRIP1 (BRCA1 interacting DNA helicase 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm'] | GTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATA... | GTCTAAGAGTCTAGCAGAGAAGTTCCAGGACCCCATTGGAGCAAAAAATCCAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATA... | pathogenic | 280,954 |
Considering the variant on chromosome 17, location 61793690, involving gene BRIP1 (BRCA1 interacting DNA helicase 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | CAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCT... | CAAGAACAGATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCT... | pathogenic | 280,964 |
Does the chromosome 17 mutation at position 61793698 within gene BRIP1 (BRCA1 interacting DNA helicase 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_cancer_of_breast', 'Fanconi_anemia_complementation_group_J'] | GATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCTAAAAAAGT... | GATGCATTGAAGAGGGCAAAAAGTATAGTTTCATATTACCTACATCACCCCTGCCCCATGGAAGTACAGCCCAGTGCCAAGAGAGCCTCCATTAGCCCACAATTCTTCCCATGGGGAAAAGTGAGAATATAGTGAGTGATTAATGAAATAAAGAAAATGTGGCACATATATATATAATGAAATATTCAGTCTTAAAAAAGAAGAAAATTTTGCCATTTGCAACAACATGGATGAAACTGGAAGTATTATGCTATCTGAAATAAGCCTGATAGAAAGACAAATACTGCATGCTATCACTCATATGTGTCATCTAAAAAAGT... | pathogenic | 280,967 |
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