"Illumina Laboratory Services, Illumina"[submitter] AND "EZH2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369578	NM_004456.4(EZH2):c.*275A>G	EZH2	Single nucleotide variant	Weaver syndrome	GLikely benign
Select item 3062112	NM_004456.5(EZH2):c.2111-3_2115dup	EZH2	Duplication (splice acceptor variant)	Weaver syndrome	GUncertain significance
Select item 239931	NM_004456.5(EZH2):c.247-15dup	EZH2	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 359288	NM_004456.5(EZH2):c.118-5_118-4del	EZH2	Deletion (intron variant)	Weaver syndrome +1 more	GBenign/Likely benign
Select item 989285	NM_004456.5(EZH2):c.44G>T (p.Trp15Leu)	EZH2 (W15L)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 359292	NM_004456.5(EZH2):c.-73GCG[7]	EZH2, LOC129999534	Microsatellite (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 359294	NM_004456.4(EZH2):c.-174dup	LOC129999534, EZH2	Duplication	not provided +1 more	GLikely benign

ClinVar