| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Sitosterolemia +5 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +4 more | |
Click to view in NCBI Gene