| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (nonsense) | Charcot-Marie-Tooth disease axonal type 2K +4 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4A +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease type 4A +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
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