| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome +4 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | KMT2D-related disorder +2 more | |
Click to view in NCBI Gene