| | A3GALT2, ACOT11 +1226 more | Inversion | Bilateral polymicrogyria | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Familial hypercholesterolemia | |
| | | Single nucleotide variant | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant | Familial hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant | not specified +4 more | |
| | | Single nucleotide variant | Familial hypercholesterolemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypobetalipoproteinemia +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypobetalipoproteinemia +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, autosomal dominant, 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypobetalipoproteinemia +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hypercholesterolemia | |
| | | Deletion (5 prime UTR variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypercholesterolemia, familial, 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Insertion (inframe_insertion +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial hypercholesterolemia +1 more | |
| | | Deletion (inframe_deletion) | Familial hypercholesterolemia | |
| | | Deletion (inframe_deletion) | Familial hypercholesterolemia +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (frameshift variant) | Hypercholesterolemia, familial, 1 | |
| | | Microsatellite (inframe_insertion) | Hypercholesterolemia, familial, 1 +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +5 more | |
| | | Microsatellite (inframe_deletion) | Familial hypercholesterolemia | |
| | | Insertion (inframe_insertion) | Familial hypercholesterolemia | |
| | | Microsatellite (inframe_deletion) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | Hypercholesterolemia, familial, 1 +4 more | GConflicting classifications of pathogenicity |
| | | Insertion (inframe_insertion) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Duplication (inframe_insertion +2 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Insertion (inframe_indel +1 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Insertion (inframe_insertion +2 more) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Deletion (frameshift variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Deletion (frameshift variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Duplication (frameshift variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia | |
| | | Single nucleotide variant (synonymous variant) | Familial hypercholesterolemia | |
| | | Microsatellite (inframe_insertion) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (synonymous variant) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +1 more | |