| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene