| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Congenital aneurysm of ascending aorta +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Congenital aneurysm of ascending aorta +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene