| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene