| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +1 more | |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | |
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