| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Duplication (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GPathogenic/Likely pathogenic |
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