| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Autosomal dominant KAT6B-related disorders +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | KAT6B-related disorders | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant KAT6B-related disorders | |
| | | Duplication (frameshift variant) | KAT6B-related disorders | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome +4 more | |
Click to view in NCBI Gene