| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Cardiovascular phenotype +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial isolated dilated cardiomyopathy +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene