| | ATAD2B, ATP6V1C2 +653 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933312, LOC129933313 +736 more | Copy number gain | See cases | |
| | C2orf48, C2orf50 +893 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806252, LOC126806253 +2457 more | 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) | Hypercholesterolemia, autosomal dominant, type B +1 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) | Familial hypobetalipoproteinemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +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 hypobetalipoproteinemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +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) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +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) | 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) | Hypercholesterolemia, autosomal dominant, type B +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +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) | Familial hypobetalipoproteinemia 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) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +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) | Familial hypobetalipoproteinemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +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) | Hypercholesterolemia, autosomal dominant, type B +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | 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) | Cardiovascular phenotype +4 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +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) | Familial hypobetalipoproteinemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypobetalipoproteinemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | APOB-related disorder | |