| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +6 more | GPathogenic/Likely pathogenic |
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