| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Charcot-Marie-Tooth disease type 4D | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease type 4D | |
| | | Single nucleotide variant (splice donor variant +1 more) | Charcot-Marie-Tooth disease type 4 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene