NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Thoracic aortic aneurysm or dissection
★★☆☆2026→ Residue 198
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6;Moyamoya disease 5;Multisystemic smooth muscle dysfunction syndrome
★★☆☆2026→ Residue 118
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 258
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)Pathogenic
Aortic aneurysm, familial thoracic 6|not provided
★★☆☆2025→ Residue 46
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial aortopathy|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.773G>A (p.Arg258His)Pathogenic
Aortic aneurysm, familial thoracic 6|Moyamoya disease 5|not provided|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
★★☆☆2025→ Residue 258
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)Pathogenic
Multisystemic smooth muscle dysfunction syndrome|Moyamoya disease 5|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6|not provided|alterations of great arteries and veins;Connective tissue disorder|Multisystemic smooth muscle dysfunction syndrome;Moyamoya disease 5;Aortic aneurysm, familial thoracic 6|ACTA2-related disorder|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6
★★☆☆2025→ Residue 179
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 2|not provided|Cardiovascular phenotype
★★☆☆2025→ Residue 149
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6|Familial aortopathy|Multisystemic smooth muscle dysfunction syndrome|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 179
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln)Pathogenic
not provided|Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6|ACTA2-related disorder|Isolated thoracic aortic aneurysm
★★☆☆2025→ Residue 212
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|Familial aortopathy|ACTA2-related disorder|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6;Moyamoya disease 5|See cases
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly)Pathogenic
Aortic aneurysm, familial thoracic 6|not provided|Familial thoracic aortic aneurysm and aortic dissection
★★☆☆2025→ Residue 39
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter)Pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
★★☆☆2024→ Residue 314
NM_001613.4(ACTA2):c.146T>C (p.Met49Thr)Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection|Aortic aneurysm, familial thoracic 6
★★☆☆2023→ Residue 49
NM_001613.4(ACTA2):c.593G>A (p.Arg198His)Pathogenic
Aortic aneurysm, familial thoracic 6|Familial thoracic aortic aneurysm and aortic dissection|not provided|Multisystemic smooth muscle dysfunction syndrome;Aortic aneurysm, familial thoracic 6;Moyamoya disease 5
★★☆☆2023→ Residue 198
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu)Pathogenic
not provided|Aortic aneurysm, familial thoracic 6
★★☆☆2023→ Residue 149
NM_001613.4(ACTA2):c.133G>C (p.Val45Leu)Pathogenic
Aortic aneurysm, familial thoracic 6
★☆☆☆2026→ Residue 45
NM_001613.4(ACTA2):c.1076T>G (p.Ile359Ser)Likely pathogenic
not provided
★☆☆☆2025→ Residue 359
NM_001613.4(ACTA2):c.941G>A (p.Arg314Gln)Pathogenic
Aortic aneurysm, familial thoracic 6
★☆☆☆2025→ Residue 314
NM_001613.4(ACTA2):c.130-2delLikely pathogenic
Cardiovascular phenotype
★☆☆☆2025