| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Microsatellite (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | not provided | |
| | KDM6B, LOC121587574 (E1244*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC121587574, KDM6B (N1331S) | Single nucleotide variant (missense variant) | not provided | |
| | KDM6B, LOC121587574 (Y1379S) | Single nucleotide variant (missense variant) | not provided | |
| | KDM6B, LOC121587574 (Y1491C) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Duplication | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
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