| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene