| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Dejerine-Sottas disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (missense variant) | Dejerine-Sottas disease | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene