| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129994826, PURA (A142fs) | Duplication (frameshift variant) | PURA Syndrome | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene