| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | SRD5A2-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency +2 more | |
| | | Copy number gain | Mosaic trisomy 2 | |
Click to view in NCBI Gene