| | | Single nucleotide variant | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Familial hypercholesterolemia +5 more | |
| | | Microsatellite (inframe_deletion) | PCSK9-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +6 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | |
| | | Single nucleotide variant (intron variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypobetalipoproteinemia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Cardiovascular phenotype +5 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) | PCSK9-related disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | PCSK9-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +3 more | GConflicting classifications of pathogenicity |