| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FBN1, LOC126862124 (N1417S) | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene