| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondylometaphyseal dysplasia, Kozlowski type +4 more | |
| | | Single nucleotide variant (missense variant) | Scapuloperoneal spinal muscular atrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Avascular necrosis of femoral head, primary, 2 +14 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene