"GenomeConnect, ClinGen"[submitter] AND "EZH2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158579	NM_004456.5(EZH2):c.1876G>A (p.Val626Met)	EZH2 (V626M +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 972930	GRCh37/hg19 7q35-36.1(chr7:147897705-149874566)x3	ATP6V0E2, C7orf33 +20 more	Copy number loss	not provided	Gnot provided
Select item 684492	Single allele	ATP6V0E2, C7orf33 +20 more	Duplication	not provided	Gnot provided

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