| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (intron variant +1 more) | Inborn genetic diseases +4 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800 +1 more (Q319* +2 more) | Single nucleotide variant (nonsense) | not provided +3 more | |
| | CYP21A2, LOC106780800 (P454S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene