| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC106799833, CYP11B1 (L462fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (P442fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase +1 more | |
| | CYP11B1, LOC106799833 (Y423*) | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (V405fs) | Deletion (frameshift variant +1 more) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (R374W) | Single nucleotide variant (missense variant) | Congenital adrenal hyperplasia +3 more | GPathogenic/Likely pathogenic |
| | CYP11B1, LOC106799833 (Q356*) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | CYP11B1, LOC106799833 (T319M) | Single nucleotide variant (missense variant) | Glucocorticoid-remediable aldosteronism +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | CYP11B1, LOC106799833 (K305*) | Single nucleotide variant (nonsense) | Deficiency of steroid 11-beta-monooxygenase | |
Click to view in NCBI Gene