| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MYH11, NDE1 (T1934S +1 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Connective tissue disorder +5 more | GConflicting classifications of pathogenicity |
| | MYH11, NDE1 (R1758Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +3 more | GConflicting classifications of pathogenicity |
| | MYH11, NDE1 (A1733T +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | NDE1, MYH11 (R1655C +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +3 more | |
| | MYH11, NDE1 (K1473Q +1 more) | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
Click to view in NCBI Gene