| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aneurysm-osteoarthritis syndrome | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene