| | | Deletion | Kabuki syndrome | |
| | | Deletion | Kabuki syndrome | |
| | | Duplication | Kabuki syndrome | |
| | | Duplication | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | KMT2D-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Deletion (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | KMT2D, LOC126861520 (G1281R) | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | KMT2D, LOC126861520 (G1243E) | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Microsatellite (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Microsatellite (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Microsatellite (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Duplication (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Duplication (inframe_insertion) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Deletion (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (splice donor variant) | Kabuki syndrome | |
| | | Deletion (inframe_deletion) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome | |
| | | Single nucleotide variant (synonymous variant) | Kabuki syndrome | |