| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP21A2, LOC106780800 (I173N +2 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (V282L +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +4 more | GPathogenic/Likely pathogenic |
| | CYP21A2, LOC106780800
+1 more (Q319* +2 more) | Single nucleotide variant (nonsense) | CYP21A2-related condition +3 more | |
| | CYP21A2, LOC106780800 (A392T +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | CYP21A2, LOC106780800 (P454S +2 more) | Single nucleotide variant (missense variant) | CYP21A2-related condition +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene