| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | NDE1, MYH11 (D1461H +1 more) | Single nucleotide variant (missense variant +1 more) | Mitral regurgitation +4 more | |
| | | Deletion (3 prime UTR variant +1 more) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Aortic aneurysm, familial thoracic 4 | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 | |
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