| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Deletion (splice donor variant +1 more) | Hypercholesterolemia, familial, 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | LDLR-related disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (intron variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Deletion (inframe_deletion) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |