| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss +4 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 17 +4 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 17 +4 more | |
| | | Deletion (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Atypical hemolytic-uremic syndrome +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
Click to view in NCBI Gene