| | | Single nucleotide variant (nonsense) | Abnormal circulating lipid concentration +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypercholesterolemia, familial, 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Hypercholesterolemia | |
| | | | not specified | |
| | | Single nucleotide variant (missense variant) | Alzheimer disease 2 +7 more | |
| | | Single nucleotide variant (missense variant) | Familial type 3 hyperlipoproteinemia | |
| | | Single nucleotide variant (missense variant) | Familial type 3 hyperlipoproteinemia | |
| | | Single nucleotide variant (missense variant) | Hyperlipoproteinemia due to APOE1 | |
| | | Duplication (frameshift variant +1 more) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | LMNA-related condition +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +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, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +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) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice donor variant) | Homozygous familial hypercholesterolemia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | atorvastatin response - Efficacy | |
| | | Single nucleotide variant (missense variant +1 more) | Homozygous familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (intron variant +1 more) | Homozygous familial hypercholesterolemia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |