| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | MYLK, MYLK-AS1 (S1759P +4 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 7 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Familial thoracic aortic aneurysm and aortic dissection | |
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