CN030661[trait identifier] AND "Genomic Medicine Lab, University of Ca - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 531888	NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter)	KMT2D (R5448*)	Single nucleotide variant (nonsense)	Kabuki syndrome +1 more	GPathogenic/Likely pathogenic
Select item 547481	NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter)	KMT2D (Q4157*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic/Likely pathogenic
Select item 1065457	NM_003482.4(KMT2D):c.9773del (p.Lys3258fs)	KMT2D (K3258fs)	Deletion (frameshift variant)	Kabuki syndrome +1 more	GPathogenic
Select item 692015	NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)	KMT2D (Q2004*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 2442329	NM_003482.4(KMT2D):c.5783-1G>A	KMT2D	Single nucleotide variant (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 375634	NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer)	KMT2D	Deletion (frameshift variant)	Kabuki syndrome +1 more	GPathogenic
Select item 1065471	NM_003482.4(KMT2D):c.1491_1492del (p.Pro497_Pro498insTer)	KMT2D	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic

ClinVar