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 |
|---|---|---|---|---|---|
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43104224—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATT... | TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATT... | pathogenic | 275,917 |
Located at chromosome 17 position 43104227, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACA... | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACA... | pathogenic | 275,918 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43104227—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACA... | TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACA... | pathogenic | 275,919 |
A genetic alteration at chromosome 17, position 43104231, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA... | GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA... | pathogenic | 275,920 |
A mutation at chromosome position 43104232 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCAC... | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCAC... | pathogenic | 275,921 |
A mutation at chromosome position 43104232 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCAC... | CCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCAC... | pathogenic | 275,922 |
A mutation at chromosome position 43104233 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | pathogenic | 275,923 |
Does the genetic variant at chromosome 17, position 43104233, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | pathogenic | 275,925 |
Determine if the mutation at chromosome 17, position 43104233 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | CTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACG... | pathogenic | 275,926 |
Considering the variant on chromosome 17, location 43104239, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCAC... | CTCCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCAC... | pathogenic | 275,927 |
Evaluate this variant at chromosome 17, position 43104241, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCA... | CCCGAGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCA... | pathogenic | 275,928 |
The genetic variant at chromosome 17, position 43104245, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACC... | AGTAGCTGGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACC... | pathogenic | 275,929 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43104252—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAA... | GGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAA... | pathogenic | 275,932 |
Variant chromosome 17, position 43104252, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAA... | GGGACTACAGGAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAA... | pathogenic | 275,933 |
Clinical significance of chromosome 17, position 43104262, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATT... | GAGTCCGCCATCACGCTCAGCTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATT... | pathogenic | 275,942 |
Is the variant located on chromosome 17 at position 43104282, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGGGTTTC... | CTAATTTTTCTGTGTTTTTAGTAGAGACGGGCTTTCACCATGTGAGCCAGGATAGTCTTGATCTCCACACCTCGTGATCCACTTGACTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAAGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCCGACTCTCAGGTTCAAGTGATTCTCCATCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGGGTTTC... | benign | 275,952 |
Variant at chromosome 17, position 43104877, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTC... | ACTTTTAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTC... | pathogenic | 275,963 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43104877, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACTTTTAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTC... | ACTTTTAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTC... | pathogenic | 275,964 |
The genetic variant at chromosome 17, position 43104882, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... | TAATATAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAG... | pathogenic | 275,970 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43104887—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGG... | TAGACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGG... | pathogenic | 275,972 |
Does the genetic variant at chromosome 17, position 43104889, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAA... | GACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAA... | pathogenic | 275,974 |
Variant on chromosome 17, at position 43104889, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAA... | GACAAGGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAA... | pathogenic | 275,975 |
The genetic variant at chromosome 17, position 43104894, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCC... | GGACTTGCTATGTTGCCCAAACTGGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCC... | pathogenic | 275,976 |
Mutation found at chromosome 17 position 43104917, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCC... | GGTCTTGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCC... | pathogenic | 275,985 |
Assess the variant on chromosome 17, position 43104922, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCT... | TGAACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCT... | pathogenic | 275,988 |
Classify the chromosome 17 variant at position 43104925 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGG... | ACTCCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGG... | pathogenic | 275,989 |
Benign or pathogenic: chromosome 17, position 43104928, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGG... | CCTGAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGG... | pathogenic | 275,992 |
Considering the genetic mutation at chromosome 17, position 43104931, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTC... | GAGCTCAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTC... | pathogenic | 275,993 |
Variant chromosome 17, position 43104936, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCC... | CAGGCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCC... | pathogenic | 275,994 |
Regarding the variant found on chromosome 17 at position 43104939 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCCTGT... | GCAATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCCTGT... | pathogenic | 275,998 |
Variant chromosome 17, position 43104941, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCCTGTAA... | AATCCTCAAGCCTCCTAGTGCTGGAATTACAGGCGTGAGCCACGGCACCCAGCTACTTTTTTTTTTTTTTAATTGCAGAGACAGTGTCTCACTGTGTTGCCCAAGCTGGGCTCAAAGGACCTCCTACCTCAGCCTCCCAAAGGGTTGGGATTATAGGCATGAGCCATGGCACCCAGCTGAAGTAATTTCCAAATGCTTAAAAATATCAGTGACCTTATGGCTATTTTAGATAAGCATCACAGAGCAGATAAAGCTCCAAAGCAAGGAAGGGCCTATAAGAGCTCTCTTTTTTGGCCGGGCTTGGTGGCTCACGCCTGTAA... | pathogenic | 275,999 |
Variant on chromosome 17, at position 43106456, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | pathogenic | 276,032 |
Is the variant located on chromosome 17 at position 43106456, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | pathogenic | 276,035 |
Considering the variant on chromosome 17, location 43106456, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | AATTTTAAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTT... | pathogenic | 276,036 |
Clinically, how would you classify the variant at chromosome 17, position 43106462, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAAT... | AAAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAAT... | pathogenic | 276,039 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43106463, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATA... | AAAAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATA... | pathogenic | 276,040 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43106465—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGA... | AAATCAACTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGA... | pathogenic | 276,042 |
Is the variant located on chromosome 17 at position 43106472, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGA... | CTGGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGA... | pathogenic | 276,046 |
Does the variant on chromosome 17 at location 43106474 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATA... | GGAAATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATA... | pathogenic | 276,047 |
The genetic variant at chromosome 17, position 43106477, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... | AATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAG... | pathogenic | 276,050 |
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43106478, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | ATTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGA... | pathogenic | 276,053 |
Regarding the variant found on chromosome 17 at position 43106479 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAA... | TTTTACTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAA... | pathogenic | 276,056 |
Assess the variant on chromosome 17, position 43106484, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAA... | CTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAA... | pathogenic | 276,058 |
Variant chromosome 17, position 43106484, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAA... | CTCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAA... | pathogenic | 276,059 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43106485: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAA... | TCCTAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAA... | pathogenic | 276,060 |
Mutation at chromosome 17, position 43106488, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | pathogenic | 276,066 |
Determine whether the variant at chromosome 17, position 43106488, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | pathogenic | 276,067 |
A genetic alteration at chromosome 17, position 43106488, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | TAGGAAACAAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTA... | pathogenic | 276,068 |
Evaluate if the mutation on chromosome 17 at position 43106496 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGAC... | AAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGAC... | pathogenic | 276,071 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43106496—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGAC... | AAAAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGAC... | pathogenic | 276,072 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43106498 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTA... | AAACAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTA... | pathogenic | 276,074 |
Is the genetic variant on chromosome 17, position 43106501, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAA... | CAAATACACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAA... | pathogenic | 276,075 |
Variant at chromosome position 43106507, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | CACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTT... | CACAGACCATCAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTT... | pathogenic | 276,076 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43106517 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGT... | CAAAGTTATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGT... | pathogenic | 276,079 |
Chromosome 17, position 43106523, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGA... | TATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGA... | pathogenic | 276,081 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43106524, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAA... | ATTTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAA... | pathogenic | 276,082 |
The genetic variant at chromosome 17, position 43106526, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAG... | TTAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAG... | pathogenic | 276,083 |
Does the chromosome 17 mutation at position 43106527 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGT... | TAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGT... | pathogenic | 276,085 |
Variant on chromosome 17, at position 43106527, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'Hereditary_cancer-predisposing_syndrome'] | TAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGT... | TAGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGT... | pathogenic | 276,087 |
Evaluate this variant at chromosome 17, position 43106528, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTA... | AGAGTCCTTGTTTTCTACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTA... | pathogenic | 276,089 |
Determine if the mutation at chromosome 17, position 43106544 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | ACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCT... | ACCTTAACACTAAGAAATTTGCCTATCAATACTGTATTTCACTAAAGCTAAGACACCAACAATGTAAGTTGCACTATTATTTTCTGTATCACTAAGAAAGAAAGCACACAAATTAAACAAATGACACACCCTCAATAGTAAAATGTTCCCAATTTCAGAGATGTTAAGATGTGAAAAATGTGCACCTTACGATTGATAAAATAAGGTGTGAGACCAGTGGGAGTAATTTTTTAAAAATAGATTACAGATACAGAACTAAAATTAACCTAGACTAAAAGGTCTTATCACCACGTCATAGAAAGTAATTGTGCAAACTTCCT... | benign | 276,098 |
Clinical classification of chromosome 17, position 43108335, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | benign | CCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATA... | CCCATAAAACTTTCAGGAAAATAACTTTGGAAATAATTTACTGTGTGCTAAAAACTCTTTTATAAATTTTTCTGATGAATGGTTTTATAGGAACGCTATGTTATTAAATAATTTCTACTTTTTCCTACTGTGGTTGCTTCCAACCTAGCATCATTACCAAATTATATACCTTTTGGTTATATCATTCTTACATAAAGGACACTGTGAAGGCCCTTTCTTCTGGTTGAGAAGTTTCAGCATGCAAAATCTATAAATTATAAAGAAAGAAAGAACAATTTAATTTACTTCCTTTTGTAGAAAGAATACTCAAAAGGCAAATA... | benign | 276,110 |
Is the chromosome 17, position 43109041 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCC... | CAGTACAGAAATAAACTCATACATACATCTGTGATCAAGCGATTTTCAACAATAATAAATACCAAGACAATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCACCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGACTACAGGCGCCCAGCACCATGCCCGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCTGCCCGCC... | benign | 276,114 |
Evaluate this variant at chromosome 17, position 43112723, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CTTCAAAAAAGTATTACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTG... | CTTCAAAAAAGTATTACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTG... | benign | 276,137 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43112726: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CAAAAAAGTATTACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGA... | CAAAAAAGTATTACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGA... | benign | 276,138 |
Is the genetic mutation found on chromosome 17 at position 43112738, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGG... | ACAGGCTGGGTGCGGTGGCTCATGCCTATAATCCCACCATTTTGGGAGGTGGAGGTGGGCGGATCACTTGAGGTCAGCTCAAGACCAGCTTGGTCAACATGGTGAAACATGGTCTCTACTAAAATAAAAGGCTGGGCGTGGTGGCTAATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTTGTCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCATGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGG... | benign | 276,142 |
Clinically, how would you classify the variant at chromosome 17, position 43113362, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | benign | GTTTTGGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGATGGAGGTGGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGCAACACAGTGAGACTCCGTCTCAAAACAAAACAAAAAAAAACAGCCGGGCGTGGTGGCTCACACTTGTAATCCCAGAACTTAGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA... | GTTTTGGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGATTTGCTTGAACCCAGGAGATGGAGGTGGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGCAACACAGTGAGACTCCGTCTCAAAACAAAACAAAAAAAAACAGCCGGGCGTGGTGGCTCACACTTGTAATCCCAGAACTTAGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTA... | benign | 276,145 |
Mutation at chromosome 17, position 43114021, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | GGTATCGCTCCCAGGCTCCCAGCTTTCTCATCATATAGATCAAAGTGTTATTCAGATTATATTGATATTACAGAAGAGATTTCATGAAAAAGTCGATCTATCACATGGGCATTATACTGGACTTTTTTTTTTTTTGAGACGGAATCTTGCTCTGTCGCCCAGGCTAGAGTACAGTGGCACGATCTCAACTCACTGCAGCCTCTGCCTCCTGGGTTCAAGAGGTTCCTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCCCCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTACCATATT... | GGTATCGCTCCCAGGCTCCCAGCTTTCTCATCATATAGATCAAAGTGTTATTCAGATTATATTGATATTACAGAAGAGATTTCATGAAAAAGTCGATCTATCACATGGGCATTATACTGGACTTTTTTTTTTTTTGAGACGGAATCTTGCTCTGTCGCCCAGGCTAGAGTACAGTGGCACGATCTCAACTCACTGCAGCCTCTGCCTCCTGGGTTCAAGAGGTTCCTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCCCCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTACCATATT... | benign | 276,149 |
Is the variant located on chromosome 17 at position 43114074, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | AGATTATATTGATATTACAGAAGAGATTTCATGAAAAAGTCGATCTATCACATGGGCATTATACTGGACTTTTTTTTTTTTTGAGACGGAATCTTGCTCTGTCGCCCAGGCTAGAGTACAGTGGCACGATCTCAACTCACTGCAGCCTCTGCCTCCTGGGTTCAAGAGGTTCCTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCCCCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCC... | AGATTATATTGATATTACAGAAGAGATTTCATGAAAAAGTCGATCTATCACATGGGCATTATACTGGACTTTTTTTTTTTTTGAGACGGAATCTTGCTCTGTCGCCCAGGCTAGAGTACAGTGGCACGATCTCAACTCACTGCAGCCTCTGCCTCCTGGGTTCAAGAGGTTCCTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCCCCCATACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCAGCCTCCC... | benign | 276,150 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43114390 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTTTGGACTTTTAATTCTAATATAACATTCAAAACACAATTTAAAATATGGCTGGCCCATCTCTACAAGAAACTTAAAAATTAGCTGGGCAAATGCCATGTACCTGTAGTCCTAGCTACTTGAGGGGCTGAGATGAGAGATTGCTTGAACCCAGATTGCAAGGTAAAAGTGAACTATGATCACACCACTGAACTCCAGCCTGGGTGTCAGAGGGAGACACTGTCTCAAAGAAACAAACAAAAATATATATGTGTCACACACACACATATATATAACAT... | TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCCGGCTTTGGACTTTTAATTCTAATATAACATTCAAAACACAATTTAAAATATGGCTGGCCCATCTCTACAAGAAACTTAAAAATTAGCTGGGCAAATGCCATGTACCTGTAGTCCTAGCTACTTGAGGGGCTGAGATGAGAGATTGCTTGAACCCAGATTGCAAGGTAAAAGTGAACTATGATCACACCACTGAACTCCAGCCTGGGTGTCAGAGGGAGACACTGTCTCAAAGAAACAAACAAAAATATATATGTGTCACACACACACATATATATAACAT... | benign | 276,153 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43115501: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | GCCTCCCAGGTTCAAGTGATACCCCTGCCGCAGCCTACCAAGTAGCTGGGACTACAGGTACGTGCCACCATGCCAGGCTAGTTTTTTGTGTGTTTTAGTAGAGACAGTGTTTCGCCATTTTGGCCAGGATGGTCTTAATTTCCTGACCTCGTGATCCGCCCACCTCGACCTCCCAAAGTGCTGGTATTATAGGCGTGAGCCACCGCGCCCGTCCTCTATTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAAT... | GCCTCCCAGGTTCAAGTGATACCCCTGCCGCAGCCTACCAAGTAGCTGGGACTACAGGTACGTGCCACCATGCCAGGCTAGTTTTTTGTGTGTTTTAGTAGAGACAGTGTTTCGCCATTTTGGCCAGGATGGTCTTAATTTCCTGACCTCGTGATCCGCCCACCTCGACCTCCCAAAGTGCTGGTATTATAGGCGTGAGCCACCGCGCCCGTCCTCTATTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAAT... | benign | 276,158 |
Variant chromosome 17, position 43115706, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | benign | CGCCCGTCCTCTATTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGA... | CGCCCGTCCTCTATTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGA... | benign | 276,161 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43115719, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | TTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCG... | TTTTCTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCG... | pathogenic | 276,167 |
A genetic alteration at chromosome 17, position 43115723, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTG... | CTTTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTG... | pathogenic | 276,172 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43115725: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAA... | TTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAA... | pathogenic | 276,179 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43115725, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm'] | TTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAA... | TTTATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAA... | pathogenic | 276,180 |
Is the genetic change at chromosome 17, position 43115727, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACC... | TATTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACC... | pathogenic | 276,182 |
Regarding the variant at chromosome 17 and position 43115729, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | pathogenic | 276,185 |
Regarding the variant at chromosome 17 and position 43115729, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | TTTGTACATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCA... | pathogenic | 276,187 |
Evaluate if the mutation on chromosome 17 at position 43115735 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGT... | CATTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGT... | pathogenic | 276,189 |
Variant at chromosome position 43115737, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | TTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGG... | TTTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGG... | pathogenic | 276,191 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43115738 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGA... | TTGCTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGA... | pathogenic | 276,194 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43115741: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGT... | CTCGTATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGT... | pathogenic | 276,197 |
Considering the genetic mutation at chromosome 17, position 43115746, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAG... | ATTATTATCTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAG... | pathogenic | 276,206 |
Evaluate the clinical significance of the mutation at chromosome 17, position 43115754 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGA... | CTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGA... | pathogenic | 276,210 |
Clinically, how would you classify the variant at chromosome 17, position 43115754, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGA... | CTCTGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGA... | pathogenic | 276,211 |
Clinically, how would you classify the variant at chromosome 17, position 43115757, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGAT... | TGCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGAT... | pathogenic | 276,212 |
Does the genetic variant at chromosome 17, position 43115758, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATC... | GCCTATAAGCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATC... | pathogenic | 276,213 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43115766, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACT... | GCCTATAATTTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACT... | pathogenic | 276,215 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43115775—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAG... | TTCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAG... | pathogenic | 276,218 |
Classify the chromosome 17 variant at position 43115776 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGC... | TCCTTCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGC... | pathogenic | 276,220 |
Does the variant on chromosome 17 at location 43115780 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Inherited_ovarian_cancer_(without_breast_cancer)'] | TCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGG... | TCTTCCACAAGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGG... | pathogenic | 276,226 |
Benign or pathogenic: chromosome 17, position 43115789, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | benign | AGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAG... | AGTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAG... | benign | 276,230 |
Is the genetic variant on chromosome 17, position 43115790, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | GTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGT... | GTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGT... | benign | 276,231 |
Is the genetic change at chromosome 17, position 43115790, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic. | benign | GTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGT... | GTTCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGT... | benign | 276,233 |
Assess the variant on chromosome 17, position 43115792, impacting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | TCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGA... | TCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGA... | benign | 276,238 |
A genetic variant on chromosome 17, position 43115792, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGA... | TCTCAAAGCAACTATATTCATAACTTAATCTCTCTTTTTTTGTTAAGAGACAGGGTCAGCCAGGCGCGGTGGCTTACACCTGTAATCCCAACACTTTTTAAGGCCAAGGTAGCTGAAGTCAGGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAAACCCTGTCTCGACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGATGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAATAGAGTGA... | benign | 276,239 |
For chromosome 17, position 43116191, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | CTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCA... | CTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCA... | benign | 276,254 |
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43116191: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | CTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCA... | CTACAGCTTCGAACTCCTGGCCTTAAGTGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGGTTATGGGCAGGAGCTACCACACTGGGCCCTTGAGTCCCTGTAATAATAGTATAGTATGTTCAGCATTTGTTACTCAAGCTGACAAGAAAACATACAGTTCATTCCAGAAAGATTCTCATCCAGATAAATTGAAAGCCCCAGGGCTTTAAAGGTTAATCTTTAGCTCTCTGTAGTAAATACTGGGACTTTTTTTTTTTTTTTTGAGTCTCCCTCTTGTCGCCCAGGCTGGAATGCAGTGGCATGATCTTAGCTCACTCA... | benign | 276,255 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43118761—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACT... | TTTCACCATGTTGGCCGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCCCAAGTGTCTTCTGATCTATAGGTGTCTCTTACTTTTTCTCCCTTGTCATTTATTTTTAAAATTAGGTCATTTGACCTGTGGAGTTTCCCCCATTCTGGATTTTGCTGATTGTATAACCCTATGGTGAGGTTTAACTTGTTCCTCTAGCCTTATTTCCTATAAACTAGACTTACAGGCTTAATCATTCAGGTTCAACTTTCTGGCAAGAACACT... | benign | 276,273 |
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