| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Deletion (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
Click to view in NCBI Gene