| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Sitosterolemia 1 | |
| | | Single nucleotide variant (nonsense) | Sitosterolemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene