| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CYP11B2, LOC106799834 (R448H) | Single nucleotide variant (missense variant) | Corticosterone methyloxidase type 2 deficiency +3 more | GConflicting classifications of pathogenicity |
| | CYP11B2, LOC106799834 (Q338*) | Single nucleotide variant (nonsense) | Corticosterone methyloxidase type 2 deficiency | |
| | CYP11B2, LOC106799834 (E255*) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CYP11B2, LOC106799834 (T185I) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CYP11B2, LOC106799834 (K175del) | Microsatellite (inframe_deletion) | not provided +1 more | |
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