Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene