"GenomeConnect, ClinGen"[submitter] AND "KMT2D"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 972965	NM_003482.4(KMT2D):c.15323G>A (p.Arg5108His)	KMT2D (R5108H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94136	NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)	KMT2D (D3419G)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +3 more	GBenign/Likely benign
Select item 94253	NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu)	KMT2D (M2652L)	Single nucleotide variant (missense variant)	Kabuki syndrome +3 more	GBenign/Likely benign

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ClinVar