| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Macrocephaly +16 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Skeletal dysplasia +28 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta with normal sclerae, dominant form +4 more | |
Click to view in NCBI Gene