| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication | Cardiovascular phenotype +6 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +5 more | GConflicting classifications of pathogenicity |
| | | Deletion | Hypertrophic cardiomyopathy +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Primary familial hypertrophic cardiomyopathy +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene