| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | SRD5A3-congenital disorder of glycosylation +3 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 54 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | KBG syndrome +1 more | |
Click to view in NCBI Gene