| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder +1 more | |
| | KDM6B, LOC121587574 (N1448S) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | KDM6B, LOC121587574 (W1471*) | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
Click to view in NCBI Gene