| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Leri-Weill dyschondrosteosis | |
| | LOC107652445, SHOX (G155W) | Single nucleotide variant (missense variant) | Leri-Weill dyschondrosteosis | |
Click to view in NCBI Gene