| | | Single nucleotide variant (5 prime UTR variant) | Hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Microsatellite (inframe_insertion) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Deletion (splice acceptor variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (splice donor variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Indel (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Deletion (frameshift variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypobetalipoproteinemia +1 more | |