| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (inframe_insertion +2 more) | Oculopharyngeal muscular dystrophy 1 +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | Oculopharyngeal muscular dystrophy +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene