| 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 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary liability to pressure palsies +8 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease +9 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Guillain-Barre syndrome, familial +5 more | |
Click to view in NCBI Gene