| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuropathy, hereditary motor and sensory, type 6A +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +4 more | |
| | | Single nucleotide variant (missense variant) | Peripheral axonal neuropathy +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +4 more | |
| | | Duplication (frameshift variant) | Charcot-Marie-Tooth disease type 2 +2 more | GConflicting classifications of pathogenicity |
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