| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant Charcot-Marie-Tooth disease type 2W +1 more | |
Click to view in NCBI Gene