| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant) | Moyamoya disease +3 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 | |
| | | Deletion (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | | Deletion (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (R374H +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | ACTA2-AS1, ACTA2 (R374C +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +2 more | |
| | ACTA2, ACTA2-AS1 (V308A +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (I371N +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | ACTA2, ACTA2-AS1 (I371T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | ACTA2, ACTA2-AS1 (S306Y +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (S370C +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | ACTA2, ACTA2-AS1 (G304W +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (G368R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (A367V +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2-AS1, ACTA2 (D301E +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (D301N +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (E363Q +3 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (Q362* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (I359S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | ACTA2, ACTA2-AS1 (W294R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (W294R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (Q313R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (Q356* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (T289I +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (T310N +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Microsatellite (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (G344S +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | ACTA2, ACTA2-AS1 (W342* +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Duplication (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Microsatellite (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | ACTA2, ACTA2-AS1 (K338R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (R294H +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (R337C +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (E336G +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (E336Q +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | ACTA2, ACTA2-AS1 (P271L +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (P271T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (P335A +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (I332T +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | ACTA2, ACTA2-AS1 (I268V +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Deletion (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | GConflicting classifications of pathogenicity |
| | | 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) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Deletion (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (K266T +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (K328del +3 more) | Deletion (inframe_indel +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | ACTA2, ACTA2-AS1 (T326N +3 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
| | ACTA2, ACTA2-AS1 (T262A +3 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (P324S +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2-AS1, ACTA2 (A259V +3 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | ACTA2, ACTA2-AS1 (A321G +3 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | ACTA2, ACTA2-AS1 (T320M +3 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | ACTA2, ACTA2-AS1 (T320P +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | ACTA2, ACTA2-AS1 (E318D +3 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | ACTA2, ACTA2-AS1 (E318G +3 more) | Single nucleotide variant (missense variant) | not provided | |
| | ACTA2, ACTA2-AS1 (E275K +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (K317del +3 more) | Deletion (inframe_deletion) | Aortic aneurysm, familial thoracic 6 | |