| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene