| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | ABCG8-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial hemolytic anemia | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sitosterolemia 1 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | ABCG8-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Early-onset coronary artery disease | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +6 more | GBenign/Likely benign; association |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Sitosterolemia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Sitosterolemia 1 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Indel (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | |
| | | Single nucleotide variant (missense variant) | ABCG8-related disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ABCG8-related disorder | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Sitosterolemia 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Sitosterolemia 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |