Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | Langer-Giedion syndrome | |
| | | Duplication (frameshift variant) | Langer-Giedion syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple congenital exostosis +1 more | |
| | | Single nucleotide variant (nonsense) | Trichorhinophalangeal dysplasia type I +3 more | |
| | | Single nucleotide variant (missense variant) | Exostoses, multiple, type 1 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene