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 |
|---|---|---|---|---|---|
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43092974—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | CACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAA... | CACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAA... | pathogenic | 274,413 |
Clinically, how would you classify the variant at chromosome 17, position 43092977, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGA... | ACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGA... | pathogenic | 274,415 |
Classify the chromosome 17 variant at position 43092977 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'] | ACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGA... | ACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGA... | pathogenic | 274,416 |
Considering the variant on chromosome 17, location 43092979, 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', 'Familial_cancer_of_breast'] | ACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATG... | ACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATG... | pathogenic | 274,417 |
A genetic alteration at chromosome 17, position 43092982, 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', 'Hereditary_cancer-predisposing_syndrome'] | CGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACG... | CGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACG... | pathogenic | 274,419 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43092985 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCC... | TTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCC... | pathogenic | 274,420 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43092991: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTG... | CCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTG... | pathogenic | 274,423 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43092994—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGT... | GAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGT... | pathogenic | 274,424 |
Benign or pathogenic: chromosome 17, position 43093000, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGA... | TTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGA... | pathogenic | 274,427 |
Mutation found at chromosome 17 position 43093000, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGA... | TTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGA... | pathogenic | 274,428 |
For chromosome 17, position 43093003, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTT... | AAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTT... | pathogenic | 274,430 |
Variant on chromosome 17, at position 43093006, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTT... | TGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTT... | pathogenic | 274,432 |
Located at chromosome 17 position 43093012, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATG... | TCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATG... | pathogenic | 274,438 |
A genetic variant on chromosome 17, position 43093012, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATG... | TCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATG... | pathogenic | 274,439 |
Considering the genetic mutation at chromosome 17, position 43093015, 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', 'Ovarian_neoplasm'] | GAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAA... | GAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAA... | pathogenic | 274,441 |
Is the genetic variant on chromosome 17, position 43093017, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAG... | GAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAG... | pathogenic | 274,442 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43093022, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCT... | TAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCT... | pathogenic | 274,443 |
Does the variant on chromosome 17 at location 43093024 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'] | GCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTA... | GCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTA... | pathogenic | 274,444 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093026—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGG... | CCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGG... | pathogenic | 274,445 |
A mutation at chromosome position 43093026 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGG... | CCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGG... | pathogenic | 274,446 |
Mutation found at chromosome 17 position 43093029, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGG... | GAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGG... | pathogenic | 274,447 |
Considering the variant on chromosome 17, location 43093033, 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'] | AGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACA... | AGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACA... | pathogenic | 274,449 |
Does the chromosome 17 mutation at position 43093033 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', 'Breast_and/or_ovarian_cancer'] | AGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACA... | AGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACA... | pathogenic | 274,450 |
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43093037—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTT... | TTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTT... | pathogenic | 274,454 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43093038: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast'] | TCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTT... | TCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTT... | pathogenic | 274,455 |
A genetic alteration at chromosome 17, position 43093039, 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'] | CAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTC... | CAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTC... | pathogenic | 274,456 |
Regarding the variant found on chromosome 17 at position 43093041 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'] | GAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAA... | GAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAA... | pathogenic | 274,457 |
Variant at chromosome position 43093042, 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'] | AGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAG... | AGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAG... | pathogenic | 274,458 |
Assess the variant on chromosome 17, position 43093043, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | pathogenic | 274,460 |
Variant at chromosome position 43093043, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | pathogenic | 274,461 |
A genetic alteration at chromosome 17, position 43093043, 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'] | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | pathogenic | 274,462 |
A genetic variant at chromosome 17, position 43093043, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | pathogenic | 274,463 |
Variant chromosome 17, position 43093043, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | GACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGT... | pathogenic | 274,464 |
Clinically, how would you classify the variant at chromosome 17, position 43093049, 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', 'Hereditary_cancer-predisposing_syndrome'] | TGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGA... | TGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGA... | pathogenic | 274,465 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093052—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGC... | TTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGC... | pathogenic | 274,466 |
Determine whether the variant at chromosome 17, position 43093053, 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'] | TCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCA... | TCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCA... | pathogenic | 274,467 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093054—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | CACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAG... | CACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAG... | pathogenic | 274,469 |
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43093055: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm', 'Panc... | ACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGT... | ACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGT... | pathogenic | 274,470 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093056—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTT... | CTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTT... | pathogenic | 274,472 |
Does the variant on chromosome 17 at location 43093057 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'] | TCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTC... | TCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTC... | pathogenic | 274,473 |
A genetic variant on chromosome 17, position 43093062, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTA... | CACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTA... | pathogenic | 274,475 |
A mutation at chromosome position 43093063 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'] | ACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAA... | ACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAA... | pathogenic | 274,476 |
The genetic variant at chromosome 17, position 43093073, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susce... | TGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGG... | TGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGG... | pathogenic | 274,479 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43093080, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | CCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTG... | CCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTG... | pathogenic | 274,480 |
A genetic alteration at chromosome 17, position 43093082, 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'] | TTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTA... | TTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTA... | pathogenic | 274,481 |
The chromosome 17, position 43093085 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAA... | AATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAA... | pathogenic | 274,482 |
Chromosome 17, position 43093087, 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'] | TAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATG... | TAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATG... | pathogenic | 274,483 |
Mutation at chromosome 17, position 43093087, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATG... | TAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATG... | pathogenic | 274,484 |
The genetic variant at chromosome 17, position 43093088, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | AACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGT... | AACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGT... | pathogenic | 274,485 |
Does the chromosome 17 mutation at position 43093092 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'] | AAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTC... | AAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTC... | pathogenic | 274,487 |
Variant at chromosome 17, position 43093097, 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_cancer-predisposing_syndrome'] | AGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAA... | AGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAA... | pathogenic | 274,490 |
Is the genetic mutation found on chromosome 17 at position 43093097, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['BRCA1-related_cancer_predisposition', 'BRCA1-related_disorder', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breas... | AGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAA... | AGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAA... | pathogenic | 274,491 |
For chromosome 17, position 43093101, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGC... | GTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGC... | pathogenic | 274,492 |
Assess the variant on chromosome 17, position 43093101, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | GTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGC... | GTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGC... | pathogenic | 274,493 |
Benign or pathogenic: chromosome 17, position 43093106, gene BRCA1 (BRCA1 DNA repair associated) variant? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAA... | GATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAA... | pathogenic | 274,495 |
Is the genetic variant on chromosome 17, position 43093112, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTA... | AAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTA... | pathogenic | 274,498 |
Chromosome 17, position 43093112, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTA... | AAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTA... | pathogenic | 274,499 |
Variant chromosome 17, position 43093118, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | GACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCAC... | GACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCAC... | pathogenic | 274,500 |
For chromosome 17, position 43093118, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Carcinoma_of_pancreas', 'Endometrial_carcinoma', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCAC... | GACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCAC... | pathogenic | 274,501 |
Considering the variant on chromosome 17, location 43093119, 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'] | ACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACT... | ACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACT... | pathogenic | 274,504 |
Is the genetic variant on chromosome 17, position 43093119, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | ACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACT... | ACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACT... | pathogenic | 274,505 |
Clinical classification of chromosome 17, position 43093121, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTC... | TATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTC... | pathogenic | 274,507 |
The chromosome 17, position 43093121 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTC... | TATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTC... | pathogenic | 274,508 |
A genetic variant on chromosome 17, position 43093122, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCT... | ATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCT... | pathogenic | 274,509 |
Considering the genetic mutation at chromosome 17, position 43093124, 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', 'Breast_neoplasm', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTAT... | AAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTAT... | pathogenic | 274,510 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43093125 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | AACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATA... | AACGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATA... | pathogenic | 274,511 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093127—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome'] | CGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAA... | CGCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAA... | pathogenic | 274,513 |
The mutation in gene BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093128—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | GCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAAT... | GCTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAAT... | pathogenic | 274,515 |
Is the chromosome 17, position 43093129 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'likely other unspecified diseases'] | CTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATA... | CTGCAACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATA... | pathogenic | 274,516 |
A genetic variant on chromosome 17, position 43093134, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | ACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTG... | ACTTGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTG... | pathogenic | 274,517 |
Variant at chromosome 17, position 43093137, 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_cancer-predisposing_syndrome'] | TGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGG... | TGCTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGG... | pathogenic | 274,518 |
A genetic alteration at chromosome 17, position 43093139, 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'] | CTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCA... | CTGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCA... | pathogenic | 274,519 |
Does the chromosome 17 mutation at position 43093140 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', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Gastric_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAA... | TGTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAA... | pathogenic | 274,520 |
Is the genetic mutation found on chromosome 17 at position 43093141, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast'] | GTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAA... | GTGTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAA... | pathogenic | 274,521 |
For chromosome 17, position 43093143, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACA... | GTCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACA... | pathogenic | 274,523 |
Evaluate if the mutation on chromosome 17 at position 43093144 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACAC... | TCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACAC... | pathogenic | 274,524 |
Assess the variant on chromosome 17, position 43093144, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACAC... | TCTTTTTCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACAC... | pathogenic | 274,525 |
Mutation found at chromosome 17 position 43093150, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAAC... | TCTTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAAC... | pathogenic | 274,526 |
Located at chromosome 17 position 43093152, 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', 'Hereditary_breast_ovarian_cancer_syndrome'] | TTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCT... | TTCTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCT... | pathogenic | 274,527 |
Considering the variant on chromosome 17, location 43093154, 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'] | CTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGG... | CTCATTGGCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGG... | pathogenic | 274,528 |
Mutation at chromosome 17, position 43093161, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | GCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAAT... | GCAGGACTGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAAT... | pathogenic | 274,531 |
Is the genetic change at chromosome 17, position 43093168, 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'] | TGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAG... | TGGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAG... | pathogenic | 274,532 |
Mutation found at chromosome 17 position 43093169, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGT... | GGATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGT... | pathogenic | 274,533 |
Assess the variant on chromosome 17, position 43093171, 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', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTT... | ATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTT... | pathogenic | 274,534 |
Clinical significance of chromosome 17, position 43093171, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome'] | ATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTT... | ATTTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTT... | pathogenic | 274,535 |
Clinically, how would you classify the variant at chromosome 17, position 43093173, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGA... | TTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGA... | pathogenic | 274,537 |
Clinically, how would you classify the variant at chromosome 17, position 43093173, 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', 'Hereditary_cancer-predisposing_syndrome'] | TTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGA... | TTACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGA... | pathogenic | 274,538 |
A genetic variant at chromosome 17, position 43093174, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | TACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAA... | TACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAA... | pathogenic | 274,539 |
Regarding the variant at chromosome 17 and position 43093175, 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'] | ACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAAT... | ACTTTCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAAT... | pathogenic | 274,540 |
A mutation at chromosome position 43093179 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'] | TCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCAT... | TCATGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCAT... | pathogenic | 274,544 |
Evaluate if the mutation on chromosome 17 at position 43093182 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCT... | TGTCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCT... | pathogenic | 274,547 |
Is the genetic variant on chromosome 17, position 43093184, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTT... | TCACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTT... | pathogenic | 274,548 |
The chromosome 17, position 43093186 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | ACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGC... | ACACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGC... | pathogenic | 274,550 |
Does the variant on chromosome 17 at location 43093187 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'] | CACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCT... | CACAAAATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCT... | pathogenic | 274,551 |
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43093192—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome'] | AATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCT... | AATGATTAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCT... | pathogenic | 274,554 |
A genetic alteration at chromosome 17, position 43093198, 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'] | TAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTA... | TAAATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTA... | pathogenic | 274,557 |
Determine whether the variant at chromosome 17, position 43093201, 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'] | ATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTT... | ATTCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTT... | pathogenic | 274,560 |
Variant chromosome 17, position 43093203, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1'] | TCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTC... | TCCTTGCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTC... | pathogenic | 274,561 |
Does the chromosome 17 mutation at position 43093208 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'] | GCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCA... | GCTTTGGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCA... | pathogenic | 274,562 |
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43093213 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCC... | GGGACACCTGGATTTGCTTTTATAAAATGAAACCAGAAGTAAGTCCACCAGTAATTAGGATGTTAAAGCTCATTCAGTCAAAGATGACGTCCTAGCTGTGTGAAGGACTTTTTTCTATGAAAAGCACCTTAGGAGGAACATGTTTCAAGTTTAAGAAGCAGTTCCTTTAACTATACTTGGAAATTTGTAAAATGTGCTCCCCAAAAGCATAAACATTTAGCTCACTTCTATAAATAGACTGGGGCAAACACAAAAACCTGGTTCCAATACCTAAGTTTGAATCCATGCTTTGCTCTTCTTGATTATTTTCTTCCAAGCCC... | pathogenic | 274,564 |
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