| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 17 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +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