| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | SLC2A10-related disorder +3 more | |
| | | Single nucleotide variant (missense variant) | Arterial tortuosity syndrome | |
| | | Single nucleotide variant (splice donor variant) | Arterial tortuosity syndrome +1 more | |
Click to view in NCBI Gene