| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3MC syndrome 2 +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | 3MC syndrome 2 +8 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene