| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP11B1, LOC106799833 (L496fs +1 more) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase +1 more | GConflicting classifications of pathogenicity |
| | CYP11B1, LOC106799833 (Y423*) | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (N394fs) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase +3 more | |
| | CYP11B1, LOC106799833 (E371G) | Single nucleotide variant (missense variant) | Deficiency of steroid 11-beta-monooxygenase +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | CYP11B1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | CYP11B1, LOC106799833 (R141Q) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | CYP11B1-related disorder | |
Click to view in NCBI Gene