| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Charcot-Marie-Tooth disease type 4A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4A +5 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease recessive intermediate A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A +4 more | |
Click to view in NCBI Gene