| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Deletion (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (E275K +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (M243V +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (K328del +3 more) | Deletion (inframe_indel +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Deletion (frameshift variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (S306Y +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) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | ACTA2, ACTA2-AS1 (L231I +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (S194Y +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (T241I +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (G304W +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (T242N +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (K317del +3 more) | Deletion (inframe_deletion) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (nonsense) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (G261S +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous 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 (K172fs +2 more) | Deletion (frameshift variant +2 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | ACTA2, ACTA2-AS1 (C176R +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (E173D +2 more) | Single nucleotide variant (missense variant +2 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic aneurysm, familial thoracic 6 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (E183D +2 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 (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (I250V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (A321G +3 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Duplication (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (W294R +3 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (G267D +3 more) | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | ACTA2, ACTA2-AS1 (E224G +2 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 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 6 | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 6 +1 more | |
| | ACTA2, ACTA2-AS1 (G210R +2 more) | 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) | Aortic aneurysm, familial thoracic 6 | |