| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Deletion (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | | Duplication (nonsense +3 more) | Kabuki syndrome 2 | |
| | | Deletion (frameshift variant +2 more) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (nonsense +2 more) | Kabuki syndrome 2 | |
| | | Deletion (splice donor variant) | Kabuki syndrome 1 | |
| | | Deletion (splice donor variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Deletion (splice donor variant) | Kabuki syndrome 2 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication (frameshift variant) | Lung cancer +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant | Mitochondrial complex IV deficiency, nuclear type 1 | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | HBB, LOC106099062
+1 more (G70S) | Single nucleotide variant (missense variant) | Hb SS disease +11 more | GConflicting classifications of pathogenicity |