| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (R208Q) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (R138C) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene