Deletion | NC_000017.11:g.(?_43047623)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41199640 | 41277500 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.213-2A>T | BRCA1 | Pathogenic | 17 | 41256975 | 41256975 | T | A | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43104848)_(43106553_?)del | BRCA1 | Pathogenic | 17 | 41256865 | 41258570 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_43070908)_(43125483_?)del | BRCA1 | Pathogenic | 17 | 41222925 | 41277500 | na | na | criteria provided, single submitter | - |
Duplication | NC_000017.10:g.(?_41219605)_(41219732_?)dup | BRCA1 | Pathogenic | 17 | 41219605 | 41219732 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.70T>G (p.Cys24Gly) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41276044 | 41276044 | A | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_007294.4(BRCA1):c.72T>G (p.Cys24Trp) | BRCA1 | Pathogenic | 17 | 41276042 | 41276042 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.132C>G (p.Cys44Trp) | BRCA1 | Likely pathogenic | 17 | 41267745 | 41267745 | G | C | criteria provided, single submitter | - |
single nucleotide variant | NM_007294.4(BRCA1):c.139T>C (p.Cys47Arg) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41258546 | 41258546 | A | G | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_007294.4(BRCA1):c.500_503del (p.Thr167fs) | BRCA1 | Pathogenic | 17 | 41251836 | 41251839 | CTTTG | C | criteria provided, single submitter | - |