| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_insertion) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue dysplasia +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene