| | LOC129933244, LOC129933245 +653 more | Copy number gain | See cases | |
| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | LOC129933186, LOC129933187 +736 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial hypobetalipoproteinemia 1 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +2 more | |
| | | Microsatellite (frameshift variant) | APOB-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Microsatellite (inframe_deletion) | Hypercholesterolemia, familial, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +4 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |