| | | Duplication | Kabuki syndrome 2 | |
| | | Duplication | Kabuki syndrome 2 | |
| | | Deletion | Kabuki syndrome 2 | |
| | | Deletion | Kabuki syndrome 2 | |
| | MIR1468, MIR1587 +2598 more | Copy number gain | Klinefelter syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Kabuki syndrome 2 | |
| | | 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 disorder | |
| | | Single nucleotide variant (intron variant) | KDM6A-related disorder | |
| | | Single nucleotide variant (intron variant) | KDM6A-related disorder | |
| | | Duplication (intron variant) | KDM6A-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | KDM6A-related disorder | |
| | | Single nucleotide variant (synonymous variant +2 more) | KDM6A-related disorder | |
| | | 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 disorder +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 | |