| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Hypertrophic cardiomyopathy 2 +7 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Dilated cardiomyopathy 1D +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1D | |
Click to view in NCBI Gene