| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP21A2, LOC106780800 (Y48C) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | CYP21A2, LOC106780800 (A213T +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (G290V +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R349P +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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