| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +11 more | |
| | | Single nucleotide variant (missense variant) | Progeroid and marfanoid aspect-lipodystrophy syndrome +7 more | |
Click to view in NCBI Gene