| 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 (R364*) | Single nucleotide variant (nonsense) | Marfan syndrome +5 more | GPathogenic/Likely pathogenic |
| | FBN1, LOC113939944 (G363S) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | FBN1, LOC113939944 (R332C) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene