| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Yunis-Varon syndrome +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Charcot-Marie-Tooth disease type 4J | |
Click to view in NCBI Gene