"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301886	NM_003482.4(KMT2D):c.16522-5_16522-2del	KMT2D	Deletion (splice acceptor variant)	Kabuki syndrome 1	GPathogenic
Select item 984921	NM_003482.4(KMT2D):c.15275G>T (p.Cys5092Phe)	KMT2D (C5092F)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GLikely pathogenic
Select item 692044	NM_003482.4(KMT2D):c.14753del (p.Pro4918fs)	KMT2D (P4918fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 488744	NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter)	KMT2D (Q4223*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 989256	NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp)	KMT2D (R3582W)	Single nucleotide variant (missense variant)	Kabuki syndrome +3 more	GPathogenic/Likely pathogenic
Select item 692015	NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter)	KMT2D (Q2004*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GPathogenic
Select item 692057	NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer)	KMT2D, LOC126861520	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2584474	NM_003482.4(KMT2D):c.2871dup (p.Glu958fs)	KMT2D (E958fs)	Duplication (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 2584490	NM_003482.4(KMT2D):c.1336del (p.Glu446fs)	KMT2D (E446fs)	Deletion (frameshift variant)	Kabuki syndrome 1	GPathogenic

ClinVar