| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 +2 more | |
| | | Deletion (frameshift variant) | Griscelli syndrome type 2 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Griscelli syndrome +1 more | |
Click to view in NCBI Gene