| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Finger syndactyly +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene