| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (inframe_insertion) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Schuurs-Hoeijmakers syndrome +2 more | |
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