| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 | |
| | | Microsatellite (frameshift variant) | Kabuki syndrome 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
Click to view in NCBI Gene