| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuronopathy, distal hereditary motor, autosomal dominant 8 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Parastremmatic dwarfism | |
| | | Single nucleotide variant (missense variant +1 more) | TRPV4-related bone disorder +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
Click to view in NCBI Gene