| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP11B1, LOC106799833 (D414fs +1 more) | Deletion (frameshift variant) | Deficiency of steroid 11-beta-monooxygenase | |
| | LOC106799833, CYP11B1 (V316M) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
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