Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_002878.4(RAD51D):c.576+1G>T | RAD51D | Likely pathogenic | 17 | 33433404 | 33433404 | C | A | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_35100943)_(35103554_?)del | RAD51D | Pathogenic | 17 | 33427962 | 33430573 | na | na | criteria provided, single submitter | - |
Deletion | NC_000017.11:g.(?_35100943)_(35101046_?)del | RAD51D | Likely pathogenic | 17 | 33427962 | 33428065 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_002878.4(RAD51D):c.141C>G (p.Tyr47Ter) | RAD51D | Pathogenic | 17 | 33446133 | 33446133 | G | C | criteria provided, single submitter | - |
Insertion | NM_002878.4(RAD51D):c.243_244insGG (p.Leu82fs) | RAD51D | Pathogenic | 17 | 33445539 | 33445540 | G | GCC | criteria provided, single submitter | - |
Deletion | NM_002878.4(RAD51D):c.752del (p.Ile251fs) | RAD51D | Likely pathogenic | 17 | 33428371 | 33428371 | TA | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_002878.4(RAD51D):c.766del (p.Asp256fs) | RAD51D | Likely pathogenic | 17 | 33428357 | 33428357 | TC | T | criteria provided, single submitter | - |
Deletion | NM_002878.4(RAD51D):c.854del (p.Gly285fs) | RAD51D | Likely pathogenic | 17 | 33428269 | 33428269 | TC | T | criteria provided, single submitter | - |
Deletion | NM_002878.4(RAD51D):c.254del (p.Gly85fs) | RAD51D | Pathogenic | 17 | 33445529 | 33445529 | GC | G | criteria provided, single submitter | - |
Deletion | NM_002878.4(RAD51D):c.508del (p.Val170fs) | RAD51D | Pathogenic | 17 | 33433473 | 33433473 | AC | A | criteria provided, single submitter | - |