Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Dural ectasia +13 more | |
| | | Deletion (frameshift variant) | Dural ectasia +13 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +4 more | |
| | | Single nucleotide variant (splice donor variant) | Venous malformation +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene