| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Deletion (frameshift variant) | Marfan syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (missense variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | See cases +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +10 more | |
| | | Single nucleotide variant (intron variant) | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | See cases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +1 more | |
| | | Deletion (intron variant) | Marfan syndrome | |
Click to view in NCBI Gene