"Revvity Omics, Revvity"[submitter] AND "EZH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441316	NM_004456.5(EZH2):c.2105C>T (p.Ala702Val)	EZH2 (A646V +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2441317	NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)	EZH2 (T627I +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2441314	NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser)	EZH2 (N322S +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 1334743	NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser)	EZH2 (N321S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441318	NM_004456.5(EZH2):c.679A>G (p.Ile227Val)	EZH2 (I188V +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2441315	NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp)	EZH2 (Y124D +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance

ClinVar