| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, autosomal dominant 13 | |
Click to view in NCBI Gene