| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +1 more | |
| | | Duplication (frameshift variant) | Marfan syndrome +1 more | |
| | | Duplication (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Insertion (inframe_insertion) | Marfan syndrome +1 more | |
| | | Deletion (splice acceptor variant) | Marfan syndrome +1 more | |
| | | Deletion (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Insertion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Deletion (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +1 more | |
| | | Duplication (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Duplication (frameshift variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | FBN1, LOC113939944 (M356fs) | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Insertion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Duplication (splice donor variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Indel (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Microsatellite (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (splice donor variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (splice donor variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | FBN1, LOC113939944 (V331D) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |