| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP21A2, LOC106780800 (Q54fs) | Deletion (frameshift variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (R92G) | Single nucleotide variant (missense variant +2 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | CYP21A2, LOC106780800 (S373N +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | GPathogenic/Likely pathogenic |
| | LOC106780800, CYP21A2 (I379N +2 more) | Single nucleotide variant (missense variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
Click to view in NCBI Gene