| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Sponastrime dysplasia +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Sponastrime dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Sponastrime dysplasia +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene