Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr15:40998489
- GRCh38:
- Chr15:40706291
| RAD51 | Q114E | Fanconi anemia complementation group R | Uncertain significance
(Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41020968
- GRCh38:
- Chr15:40728770
| RAD51 | T197I, T198I | Fanconi anemia complementation group R | Likely pathogenic
(Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:41022147-41022149
- GRCh38:
- Chr15:40729949-40729951
| RAD51 | I292del, I293del | Fanconi anemia complementation group R | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr15:41001270
- GRCh38:
- Chr15:40709072
| RAD51 | T131P, T132P | not provided, Fanconi anemia complementation group R | Pathogenic
(Aug 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:41021830
- GRCh38:
- Chr15:40729632
| RAD51 | E258K, E259K | Fanconi anemia complementation group R | Likely pathogenic
(Feb 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:41022153
- GRCh38:
- Chr15:40729955
| RAD51 | A293T, A294T | RAD51-related condition, RAD51-related disorders, Inborn genetic diseases
| Pathogenic/Likely pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |