"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 813677	NM_006662.3(SRCAP):c.4415T>A (p.Leu1472Gln)	SRCAP (L1472Q)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 813577	NM_006662.3(SRCAP):c.6620G>A (p.Arg2207Gln)	SRCAP (R2207Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic

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