| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +5 more | |
| | | Deletion (frameshift variant) | Hypercholesterolemia, familial, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, familial, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 +5 more | |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial hypercholesterolemia +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +6 more | |
Click to view in NCBI Gene