| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +10 more | |
| | | Single nucleotide variant (missense variant) | MYH9-related disorder +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | |
Click to view in NCBI Gene