| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | FIG4-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4J | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +6 more | |
| | | Single nucleotide variant (intron variant) | Charcot-Marie-Tooth disease type 4 +2 more | |
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