| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ACTA2, ACTA2-AS1 (I214T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | ACTA2-related disorder +5 more | |
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