"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702682	NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser)	KMT2D (N5111S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2687900	NM_003482.4(KMT2D):c.13507C>T (p.Gln4503Ter)	KMT2D (Q4503*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 3065497	NM_003482.4(KMT2D):c.11733_11756dup (p.Gln3925_Leu3926insGlnGlnLeuGlnGlnGlnGlnGln)	KMT2D	Duplication (inframe_insertion)	Kabuki syndrome 1	GUncertain significance
Select item 3065270	NM_003482.4(KMT2D):c.11674C>T (p.Gln3892Ter)	KMT2D (Q3892*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1	GLikely pathogenic
Select item 3065903	NM_003482.4(KMT2D):c.8183C>T (p.Ala2728Val)	KMT2D (A2728V)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3065754	NM_003482.4(KMT2D):c.6894C>G (p.Ser2298Arg)	KMT2D (S2298R)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance
Select item 3068008	NM_003482.4(KMT2D):c.4352G>C (p.Ser1451Thr)	KMT2D (S1451T)	Single nucleotide variant (missense variant)	Kabuki syndrome 1	GUncertain significance

ClinVar