| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | FIG4-related disorder +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Yunis-Varon syndrome | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +6 more | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
Click to view in NCBI Gene