| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | APOB-related disorder +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial hypercholesterolemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Familial hypercholesterolemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +2 more | |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene