| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease recessive intermediate A +5 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
Click to view in NCBI Gene