| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Cardiomyopathy +20 more | |
| | | Single nucleotide variant (missense variant +2 more) | Dilated cardiomyopathy 1A | |
| | | Deletion (frameshift variant) | Primary dilated cardiomyopathy | |
| | | Deletion (splice acceptor variant) | Proximal muscle weakness | |
| | | Single nucleotide variant (missense variant) | Polyneuropathy | |
| | | Single nucleotide variant | Cardiomyopathy | |
Click to view in NCBI Gene