| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Myofibrillar myopathy 4 +1 more | |
| | | Deletion | Hypertrophic cardiomyopathy +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Isolated Noncompaction of the Ventricular Myocardium | |
Click to view in NCBI Gene