| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome +1 more | |
Click to view in NCBI Gene