| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial hypercholesterolemia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Hypercholesterolemia, familial, 1 | |
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