| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP21A2, LOC106780800 (P454S +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital lipoid adrenal hyperplasia due to STAR deficency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene