| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (inframe_deletion +1 more) | Charcot-Marie-Tooth disease type 4 +5 more | |
| | | Deletion (3 prime UTR variant +1 more) | Spinocerebellar ataxia 46 | |
| | | Deletion (3 prime UTR variant +1 more) | Charcot-Marie-Tooth disease type 4 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene