| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | FBN1, LOC113939944 (E383*) | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | LOC113939944, FBN1 (Y337*) | Duplication (nonsense) | Progeroid and marfanoid aspect-lipodystrophy syndrome +3 more | |
Click to view in NCBI Gene