Deletion | NM_007194.4(CHEK2):c.181del (p.Ser61fs) | CHEK2 | Pathogenic | 22 | 29130529 | 29130529 | CT | C | criteria provided, single submitter | - |
Deletion | NM_007194.4(CHEK2):c.252del (p.Glu84fs) | CHEK2 | Pathogenic | 22 | 29130458 | 29130458 | GT | G | criteria provided, single submitter | - |
Deletion | NM_007194.4(CHEK2):c.269del (p.Pro90fs) | CHEK2 | Pathogenic | 22 | 29130441 | 29130441 | AG | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_007194.4(CHEK2):c.408C>A (p.Tyr136Ter) | CHEK2 | Pathogenic | 22 | 29121267 | 29121267 | G | T | criteria provided, single submitter | - |
Deletion | NM_007194.4(CHEK2):c.449del (p.Val150fs) | CHEK2 | Pathogenic | 22 | 29121108 | 29121108 | CA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_007194.4(CHEK2):c.575C>A (p.Ser192Ter) | CHEK2 | Pathogenic | 22 | 29120982 | 29120982 | G | T | criteria provided, single submitter | - |
Deletion | NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer) | CHEK2 | Pathogenic | 22 | 29115460 | 29115461 | CAA | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter) | CHEK2 | Pathogenic | 22 | 29115411 | 29115411 | C | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_007194.4(CHEK2):c.990del (p.Met331fs) | CHEK2 | Pathogenic | 22 | 29095844 | 29095844 | TC | T | criteria provided, single submitter | - |
Deletion | NM_007194.4(CHEK2):c.1019_1034del (p.Glu340fs) | CHEK2 | Pathogenic | 22 | 29092950 | 29092965 | GTGTATAATACCGTTTT | G | criteria provided, single submitter | - |