| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Charcot-Marie-Tooth disease type 4A | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease recessive intermediate A +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | GDAP1-Related Disorders +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene