| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Adrenal hyperplasia +5 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 (I173N +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +3 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (V282L +2 more) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +3 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800
+1 more (R480L +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene