| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Schuurs-Hoeijmakers syndrome | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene