| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Insertion (frameshift variant) | Kabuki syndrome 1 | |
| | | Duplication (frameshift variant) | Kabuki syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Kabuki syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 | |
| | KMT2D, LOC126861520 (E1266D) | Single nucleotide variant (missense variant) | Connective tissue nevi +1 more | |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kabuki syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
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