Deletion | NC_000017.11:g.(?_58734112)_(58734228_?)del | RAD51C | Likely pathogenic | 17 | 56811473 | 56811589 | na | na | criteria provided, single submitter | - |
Deletion | NM_058216.3(RAD51C):c.1026+5_1026+7del | RAD51C | Pathogenic/Likely pathogenic | 17 | 56809909 | 56809911 | CAGT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA331897 |
single nucleotide variant | NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter) | RAD51C | Likely pathogenic | 17 | 56809897 | 56809897 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA400365176 |
single nucleotide variant | NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter) | RAD51C | Likely pathogenic | 17 | 56809884 | 56809884 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA8677385 |
Deletion | NM_058216.3(RAD51C):c.1000del (p.Glu334fs) | RAD51C | Likely pathogenic | 17 | 56809878 | 56809878 | AG | A | criteria provided, single submitter | - |
single nucleotide variant | NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter) | RAD51C | Likely pathogenic | 17 | 56809873 | 56809873 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA400364974 |
Deletion | NM_058216.1(RAD51C):c.966-?_1026+?del | RAD51C | Pathogenic | 17 | 56809845 | 56809905 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_58732474)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56809835 | 56811593 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_058216.3(RAD51C):c.965+1G>A | RAD51C | Likely pathogenic | 17 | 56801462 | 56801462 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA299893 |
Deletion | NM_058216.3(RAD51C):c.964del (p.Arg322fs) | RAD51C | Likely pathogenic | 17 | 56801458 | 56801458 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684139 |