Links from MedGen
Items: 2
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr20:3176009
- GRCh38:
- Chr20:3195363
| DDRGK1 | | not provided, Spondyloepimetaphyseal dysplasia, Shohat type | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:3180987
- GRCh38:
- Chr20:3200341
| DDRGK1 | | Spondyloepimetaphyseal dysplasia, Shohat type | Pathogenic
(Jan 10, 2018) | no assertion criteria provided |