| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | |
| | | Single nucleotide variant (missense variant) | Griscelli syndrome type 2 | GConflicting classifications of pathogenicity |
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