| | | Single nucleotide variant (nonsense) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (R1792P +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (T1779R +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (R1760C +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +2 more | |
| | | Copy number loss | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | |
| | | Deletion (splice acceptor variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 4 +3 more | GConflicting classifications of pathogenicity |
| | NDE1, MYH11 (I1366F +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | | Single nucleotide variant (splice donor variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | |
| | MYH11, NDE1 (R1364C +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | | Insertion (intron variant +2 more) | Visceral myopathy 2 +4 more | |
| | | Indel (nonsense) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | |
| | MYH11, NDE1 (E1543K +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (N1876K +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | NDE1, MYH11 (T1770I +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | NDE1, MYH11 (R1905Q +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (R1869C +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | MYH11, NDE1 (E1577K +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (E1716K +1 more) | Single nucleotide variant (missense variant +1 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | MYH11, NDE1 (Q1945* +1 more) | Single nucleotide variant (nonsense +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | MYH11, NDE1 (A1483G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +4 more | |
| | MYH11, NDE1 (E1305K +1 more) | Single nucleotide variant (missense variant +1 more) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more | |
| | MYH11, NDE1 (Q1832H +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | MYH11, NDE1 (F1460S +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | NDE1, MYH11 (E1957Q +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | MYH11, NDE1 (A1536T +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (S1376L +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +4 more | |
| | MYH11, NDE1 (R1612H +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | NDE1, MYH11 (I1948T +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | MYH11, NDE1 (S1814F +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | MYH11, NDE1 (R1744Q +1 more) | Single nucleotide variant (missense variant +1 more) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | MYH11, NDE1 (D1634N +1 more) | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +5 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 2 +3 more | |
| | MYH11, NDE1 (A1780S +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | | Single nucleotide variant (synonymous variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (R1895H +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +4 more | |
| | MYH11, NDE1 (R1930* +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 2 +3 more | |
| | MYH11, NDE1 (A1705T +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (M1576T +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Visceral myopathy 2 +5 more | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +4 more | |