| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Primary dilated cardiomyopathy +3 more | |
| | | Single nucleotide variant (synonymous variant) | Walker-Warburg congenital muscular dystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Walker-Warburg congenital muscular dystrophy +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene