| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | FLNA, LOC107988032 (V2580I +1 more) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Oto-palato-digital syndrome, type II +3 more | |
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