| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 1B +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +9 more | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | Carney-Stratakis syndrome +11 more | |
Click to view in NCBI Gene