| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neuropathy, congenital hypomyelinating, 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MPZ-related condition +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neuropathy, congenital hypomyelinating, 2 +8 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Charcot-Marie-Tooth disease, type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease, type I +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
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