| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (frameshift variant +1 more) | Inborn genetic diseases +8 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | X-linked cone-rod dystrophy 1 +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene