| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Vascular dilatation +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene