| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC130057352, SMAD3 (R14P) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +3 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Duplication (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (inframe_deletion +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Microsatellite (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Duplication (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (splice donor variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | 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 | |