| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +1 more | |
| | | Single nucleotide variant (nonsense) | 3 beta-Hydroxysteroid dehydrogenase deficiency | |
| | | Single nucleotide variant (nonsense) | 3 beta-Hydroxysteroid dehydrogenase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene