| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | KDM6B, LOC121587574 (I1332N) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | KDM6B, LOC121587574 (W1519*) | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
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