| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | KDM6A-related condition | |
| | | Single nucleotide variant (intron variant) | KDM6A-related condition | |
| | | Single nucleotide variant (intron variant) | KDM6A-related condition | |
| | | Duplication (intron variant) | KDM6A-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | KDM6A-related condition | |
| | | Single nucleotide variant (synonymous variant +2 more) | KDM6A-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Deletion (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Microsatellite (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Duplication (intron variant) | Kabuki syndrome 2 | |
| | | Duplication (inframe_insertion +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | KDM6A-related condition +1 more | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Deletion (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | KDM6A, LOC130068183 (G51V) | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Kabuki syndrome 2 | |