| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type IA +5 more | GConflicting classifications of pathogenicity |
| | | Copy number gain | Charcot-Marie-Tooth disease, type IA | |
| | | Single nucleotide variant | Mitochondrial disease | |
Click to view in NCBI Gene