| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Dilated cardiomyopathy 1W +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant +1 more) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene