Deletion | NM_005612.5(REST):c.2413del (p.Leu805fs) | REST | Likely pathogenic | 4 | 57797434 | 57797434 | TC | T | criteria provided, single submitter | ClinGen:CA645372752,OMIM:600571.0006 |
single nucleotide variant | NM_005612.5(REST):c.2227G>T (p.Glu743Ter) | REST | Pathogenic | 4 | 57797251 | 57797251 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_005612.5(REST):c.1310T>A (p.Leu437Ter) | REST | Likely pathogenic | 4 | 57796334 | 57796334 | T | A | criteria provided, single submitter | ClinGen:CA357006327,OMIM:600571.0005 |
Deletion | NM_005612.5(REST):c.831_832del (p.Cys278fs) | REST | Pathogenic | 4 | 57777635 | 57777636 | CAT | C | criteria provided, single submitter | ClinGen:CA351626,OMIM:600571.0001 |
Duplication | NM_005612.5(REST):c.265dup (p.Glu89fs) | REST | Pathogenic | 4 | 57777068 | 57777069 | A | AG | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_32362503)_(32398790_?)del | BRCA2 | Pathogenic | 13 | 32936640 | 32972927 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_32329423)_(32398790_?)del | BRCA2 | Pathogenic | 13 | 32903560 | 32972927 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_32370936)_(32398790_?)del | BRCA2 | Pathogenic | 13 | 32945073 | 32972927 | na | na | criteria provided, single submitter | - |
Deletion | NC_000013.11:g.(?_32315480)_(32398790_?)del | BRCA2 | Pathogenic | 13 | 32889617 | 32972927 | na | na | criteria provided, single submitter | - |
Deletion | NG_012772.3:g.(?_5001)_(88292_?)del | BRCA2 | Pathogenic | 13 | 32889617 | 32972908 | na | na | criteria provided, single submitter | - |