| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACTA2-AS1, ACTA2 (T326N +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +5 more | |
| | ACTA2, ACTA2-AS1 (A230G +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (nonsense) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
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