| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Kabuki syndrome 1 | |
| | KMT2D, LOC126861520 (A1218T) | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Kabuki syndrome 1 | |
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