| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Microsatellite (inframe_deletion) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (splice donor variant) | Hypercholesterolemia, familial, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, familial, 1 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hypercholesterolemia, familial, 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
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