| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cardiovascular phenotype +2 more | |
| | | Microsatellite (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypertrophic cardiomyopathy 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Primary familial hypertrophic cardiomyopathy +5 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hypertrophic cardiomyopathy +1 more | |
Click to view in NCBI Gene