| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | SGMS2-related condition +2 more | |
Click to view in NCBI Gene