| | | Single nucleotide variant (missense variant) | Marfan syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Microsatellite (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +9 more | |
| | | Single nucleotide variant (missense variant) | not specified +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | FBN1, LOC113939944 (R332C) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stiff skin syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |