| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Stroke disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |