| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cholestanol storage disease | |
| | | Single nucleotide variant (nonsense) | Cholestanol storage disease +1 more | |
| | | Single nucleotide variant (missense variant) | CYP27A1-related disorder +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene