| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Genitopatellar syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | KAT6B-related disorder +3 more | |
| | | Deletion (frameshift variant) | Genitopatellar syndrome | |
| | | Deletion (frameshift variant) | KAT6B-realted disoder +1 more | |
| | | Deletion (frameshift variant) | Blepharophimosis - intellectual disability syndrome, SBBYS type +1 more | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome | |
| | | Single nucleotide variant (missense variant) | Genitopatellar syndrome +1 more | GConflicting classifications of pathogenicity |
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