| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MYH11, NDE1 (Q1941R +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +2 more | |
| | MYH11, NDE1 (Q1934fs +1 more) | Insertion (frameshift variant +1 more) | Esophageal and colonic dysmotility +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion +1 more) | Aortic aneurysm, familial thoracic 4 | |
| | MYH11, NDE1 (V1759I +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +4 more | GConflicting classifications of pathogenicity |
| | MYH11, NDE1 (S1691R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | Aortic aneurysm, familial thoracic 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
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