| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC110120917, LOC111365216 +33 more | Deletion | Familial thoracic aortic aneurysm and aortic dissection | |
| | LOC110120917, LOC111413015 +19 more | Deletion | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Loeys-Dietz syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Indel (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Aneurysm-osteoarthritis syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC130057352, SMAD3 (F7fs) | Deletion (frameshift 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) | Aneurysm-osteoarthritis syndrome | |
| | LOC130057352, SMAD3 (I11fs) | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | 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 | |
| | LOC130057352, SMAD3 (P10A) | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | LOC130057352, SMAD3 (V12L) | 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) | 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 (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (nonsense) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | SMAD3-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +4 more | |
| | | Single nucleotide variant (nonsense) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (inframe_indel +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (nonsense) | Isolated thoracic aortic aneurysm | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome | |
| | | 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 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (inframe_deletion) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (inframe_indel) | 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 | |
| | | Single nucleotide variant (synonymous 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) | not provided | |
| | | Single nucleotide variant (synonymous 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) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |