| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Shprintzen-Goldberg syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Primary dilated cardiomyopathy +2 more | |
Click to view in NCBI Gene