| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | EZH2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | Weaver syndrome | |
| | | Single nucleotide variant (missense variant) | Weaver syndrome | |
Click to view in NCBI Gene