| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Microsatellite (inframe_deletion) | not specified +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene