| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene