| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Primary familial hypertrophic cardiomyopathy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Idiopathic cardiomyopathy | |
| | | Single nucleotide variant (missense variant) | Primary familial hypertrophic cardiomyopathy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene