| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +3 more | |
Click to view in NCBI Gene