| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease, type I +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Charcot-Marie-Tooth disease type 1E +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Roussy-Lévy syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Guillain-Barre syndrome, familial +5 more | |
Click to view in NCBI Gene