| | ACTA2, ACTA2-AS1 (G344S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | ACTA2, ACTA2-AS1 (T326N +3 more) | Single nucleotide variant (missense variant) | ACTA2-related condition +6 more | |
| | ACTA2, ACTA2-AS1 (R258C +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (K240N +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ACTA2, ACTA2-AS1 (R212Q +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (nonsense) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |