| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (nonsense) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Microsatellite (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (nonsense) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Indel (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense 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 +2 more | |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aneurysm-osteoarthritis syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (5 prime UTR 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) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (3 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 (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +2 more | |
| | | Deletion (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (intron variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Deletion (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Deletion (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Indel (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Microsatellite (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Deletion (frameshift variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Aneurysm-osteoarthritis syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Aneurysm-osteoarthritis syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |