| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | LOC106780800, CYP21A2 (G81fs +1 more) | Deletion (frameshift variant +1 more) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | |
| | CYP21A2, LOC106780800 +1 more (R357W +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +2 more | |
| | | Single nucleotide variant (splice donor variant) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | |
| | | Single nucleotide variant (missense variant) | Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene