| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion) | Cardiovascular phenotype +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +13 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene