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