| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | SRD5A3-congenital disorder of glycosylation +3 more | |
| | | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation | |
Click to view in NCBI Gene