Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (missense variant) | Increased susceptibility to fractures +3 more | |
| | | Single nucleotide variant (missense variant) | UNC45A-associated Cholestasis +3 more | |
| | | Single nucleotide variant (nonsense) | Pyknodysostosis +1 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +4 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +7 more | |
Click to view in NCBI Gene