| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not specified +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Hypertrophic cardiomyopathy +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | NEBL-related condition +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene