| | | Single nucleotide variant (missense variant +1 more) | Moyamoya disease 5 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Aortic aneurysm, familial thoracic 6 +4 more | |
| | ACTA2, ACTA2-AS1 (I214T +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Moyamoya disease 5 +1 more | |
| | ACTA2-AS1, ACTA2 (A230G +2 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +4 more | |
| | | Single nucleotide variant (nonsense) | Aortic aneurysm, familial thoracic 6 +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | ACTA2, ACTA2-AS1 (T326N +3 more) | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | ACTA2-related condition +5 more | |
| | ACTA2, ACTA2-AS1 (R258C +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (R258H +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GPathogenic/Likely pathogenic |