Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dominant type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dominant type 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dominant type 4 | |
Click to view in NCBI Gene