| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Marfan syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene