| | | Single nucleotide variant (non-coding transcript variant) | Moyamoya disease +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ACTA2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Moyamoya disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Multisystemic smooth muscle dysfunction syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic aneurysm, familial thoracic 6 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multisystemic smooth muscle dysfunction syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Multisystemic smooth muscle dysfunction syndrome +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Multisystemic smooth muscle dysfunction syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Moyamoya disease +2 more | |
| | | Deletion (intron variant) | Moyamoya disease +3 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (intron variant) | Moyamoya disease +3 more | |
| | | Single nucleotide variant (intron variant) | Moyamoya disease +3 more | |
| | | Single nucleotide variant (intron variant) | Moyamoya disease +3 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Moyamoya disease +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Moyamoya disease +3 more | |