| | | 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 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (missense variant) | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dominant type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +5 more | |
| | | Microsatellite (inframe_insertion) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 +3 more | GConflicting classifications of pathogenicity |
| | ACTA2, ACTA2-AS1 (R258C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | ACTA2, ACTA2-AS1 (R208H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome +4 more | |