| | MYH11, NDE1 (V1937I +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | MYH11, NDE1 (K1655del +1 more) | Deletion (intron variant) | not provided | |
| | NDE1, MYH11 (S1785R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | MYH11, NDE1 (I1738F +1 more) | Single nucleotide variant (missense variant +1 more) | MYH11-related disorder | |
| | | Single nucleotide variant (missense variant) | Lissencephaly 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | MYH11, NDE1 (K1880R +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1703G +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D318Y +2 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (M1697K +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1663G +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1494fs +1 more) | Deletion (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (Q1653H +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1720N +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | MYH11, NDE1 (E1529G +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | MYH11, NDE1 (E1933D +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | MYH11, NDE1 (T1958K +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1866Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1805Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1785N +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1677D +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (M1544I +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1515E +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1503Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (N1973T +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (G1953D +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (G1960R +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (A1817T +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (L1907V +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (K1638M +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1707E +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1859D +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (T1539I +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (L1924F +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (A1762P +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1533P +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (Q1595R +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1350E +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (A1780D +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1701S +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1836Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1884K +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (K1461E +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (K1649fs +1 more) | Deletion (frameshift variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (E1552Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (K1795N +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (L1773P +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1428D +2 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (N1587S +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (A1910V +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1345P +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (A1762V +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (K1411Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1667T +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (G1624R +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1579E +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (M1755L +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1758W +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1776V +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (E1776* +1 more) | Single nucleotide variant (nonsense +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (E1679G +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1533F +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (Q1439R +2 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (R1884T +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (A1384G +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (L1341P +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1730K +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | NDE1, MYH11 (R1900H +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (intron variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (E1388G +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (S1913N +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | MYH11, NDE1 (D1579H +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection | |