| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Campomelic dysplasia with autosomal sex reversal | |
| | | Deletion (inframe_deletion) | Camptomelic dysplasia | |
| | | Single nucleotide variant (missense variant) | Camptomelic dysplasia +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene