| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP21A2, LOC106780800 (R17C) | Single nucleotide variant (missense variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +2 more | |
| | CYP21A2, LOC106780800
+1 more (Q319* +2 more) | Single nucleotide variant (nonsense) | CYP21A2-related disorder +3 more | |
| | CYP21A2, LOC106780800
+1 more (R357W +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related disorder +2 more | |
| | CYP21A2, LOC106780800 (A392T +2 more) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
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