| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (V282L +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (P454S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +3 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (P483S +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene