| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (frameshift variant) | not specified +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Primary dilated cardiomyopathy +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene