| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Griscelli syndrome type 3 | |
| | | Microsatellite (inframe_insertion +1 more) | Griscelli syndrome type 3 | |
| | | Deletion (frameshift variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene