| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Hypercholesterolemia, familial, 1 | |
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