| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene