| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACTA2, ACTA2-AS1 (R208C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
Click to view in NCBI Gene