| | | Single nucleotide variant (intron variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | KDM6B, LOC121587574 (S1364fs) | Deletion (frameshift variant) | not provided | |
| | KDM6B, LOC121587574 (G1389C) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDM6B, LOC121587574 (T1420S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDM6B, LOC121587574 (H1324N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | KDM6B, LOC121587574 (I1332N) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Duplication (splice donor variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | KDM6B, LOC121587574 (Q1391R) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | not provided | |
| | KDM6B, LOC121587574 (Y1491C) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC121587574, KDM6B (A1423V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDM6B, LOC121587574 (R1246H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | not specified | |
| | KDM6B, LOC121587574 (W1519*) | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (intron variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (intron variant) | KDM6B-related disorder | |
| | | Microsatellite (inframe deletion) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Microsatellite (inframe insertion) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Microsatellite (inframe insertion) | KDM6B-related disorder | |
| | | Microsatellite (inframe insertion) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Microsatellite (inframe deletion) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (nonsense) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | KDM6B, LOC121587574 (D1307E) | Single nucleotide variant (missense variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KDM6B-related disorder | |
| | KDM6B, LOC121587574 (E1305K) | Single nucleotide variant (missense variant) | KDM6B-related disorder | |
| | | Single nucleotide variant (missense variant) | KDM6B-related disorder | |