Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Hypercholesterolemia, autosomal dominant, 3 | |
| | | Single nucleotide variant (missense variant) | Hypercholesterolemia, autosomal dominant, 3 +6 more | |
| | | Single nucleotide variant (nonsense) | Familial hypercholesterolemia +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not specified +3 more | GConflicting classifications of pathogenicity |
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