| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | not provided | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Cardiovascular phenotype +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Danon disease | |
Click to view in NCBI Gene