| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | KMT2D, LOC126861520 (R1291Q) | Single nucleotide variant (missense variant) | Kabuki syndrome +1 more | GConflicting classifications of pathogenicity |
| | KMT2D, LOC126861520 (P1191L) | Single nucleotide variant (missense variant) | not provided +4 more | |
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