| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Chondrodysplasia punctata, brachytelephalangic, autosomal +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | X-linked chondrodysplasia punctata 1 | |
| | | Single nucleotide variant (splice donor variant) | X-linked chondrodysplasia punctata 1 | |
| | | Deletion (inframe_deletion) | X-linked chondrodysplasia punctata 1 | |
Click to view in NCBI Gene