"Department of Pediatrics, Samsung Medical Center, Samsung Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 813627	NM_003482.4(KMT2D):c.12668A>G (p.Gln4223Arg)	KMT2D (Q4223R)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813529	NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter)	KMT2D (R2410*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1 +2 more	GPathogenic
Select item 813605	NM_003482.4(KMT2D):c.1201G>A (p.Val401Met)	KMT2D (V401M)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance

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