| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene