single nucleotide variant | NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter) | RAD51C | Pathogenic | 17 | 56801451 | 56801451 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA163579 |
single nucleotide variant | NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter) | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801410 | 56801410 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580757 |
Deletion | NM_058216.3(RAD51C):c.910del (p.Ser304fs) | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801404 | 56801404 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658629 |
single nucleotide variant | NM_058216.3(RAD51C):c.905-2A>G | RAD51C | Pathogenic | 17 | 56801399 | 56801399 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10584582 |
Deletion | NM_058216.3(RAD51C):c.905-2del | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801399 | 56801399 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10580755 |
single nucleotide variant | NM_058216.3(RAD51C):c.905-2A>C | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801399 | 56801399 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA338869 |
Deletion | NM_058216.3(RAD51C):c.905-2_905-1del | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801399 | 56801400 | CAG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA166374 |
Deletion | NM_058216.3(RAD51C):c.905-3_906del | RAD51C | Pathogenic/Likely pathogenic | 17 | 56801398 | 56801402 | TCAGGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA299908 |
single nucleotide variant | NM_058216.3(RAD51C):c.904+5G>T | RAD51C | Pathogenic/Likely pathogenic | 17 | 56798178 | 56798178 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA169350,OMIM:602774.0002 |
single nucleotide variant | NM_058216.3(RAD51C):c.904+1G>A | RAD51C | Likely pathogenic | 17 | 56798174 | 56798174 | G | A | criteria provided, multiple submitters, no conflicts | - |