| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (missense variant) | Muscle AMP deaminase deficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Homozygous familial hypercholesterolemia +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, type B +1 more | |
| | | Single nucleotide variant (nonsense) | Hypercholesterolemia, familial, 1 | |
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