"EZH2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 65675	NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)	EZH2 (E745K +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome +1 more	GPathogenic
Select item 416830	NM_004456.5(EZH2):c.2226C>T (p.Val742=)	EZH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 459201	NM_004456.5(EZH2):c.1719C>A (p.Thr573=)	EZH2	Single nucleotide variant (synonymous variant)	EZH2-related disorder +1 more	GBenign/Likely benign
Select item 390231	NM_004456.5(EZH2):c.1547-10C>T	EZH2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 135538	NM_004456.5(EZH2):c.1240+9C>A	EZH2	Single nucleotide variant (intron variant)	EZH2-related disorder +2 more	GBenign
Select item 1094312	NM_004456.5(EZH2):c.1110C>T (p.Pro370=)	EZH2	Single nucleotide variant (synonymous variant)	EZH2-related disorder +2 more	GLikely benign
Select item 2636412	NM_004456.5(EZH2):c.835C>T (p.His279Tyr)	EZH2 (H240Y +2 more)	Single nucleotide variant (missense variant)	EZH2-related disorder	GLikely pathogenic
Select item 2049159	NM_004456.5(EZH2):c.764C>T (p.Ala255Val)	EZH2 (A255V +2 more)	Single nucleotide variant (missense variant)	EZH2-related disorder +1 more	GUncertain significance
Select item 449269	NM_004456.5(EZH2):c.638G>A (p.Arg213His)	EZH2 (R213H +2 more)	Single nucleotide variant (missense variant)	EZH2-related disorder +2 more	GLikely benign
Select item 459204	NM_004456.5(EZH2):c.625+5G>A	EZH2	Single nucleotide variant (intron variant)	EZH2-related disorder +2 more	GBenign/Likely benign
Select item 2635380	NM_004456.5(EZH2):c.446T>C (p.Leu149Pro)	EZH2 (L110P +2 more)	Single nucleotide variant (missense variant)	EZH2-related disorder	GUncertain significance
Select item 359286	NM_004456.5(EZH2):c.396T>C (p.Pro132=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome +2 more	GBenign
Select item 3061190	NM_004456.5(EZH2):c.380T>G (p.Val127Gly)	EZH2 (V118G +2 more)	Single nucleotide variant (missense variant)	EZH2-related disorder	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 411685	NM_004456.5(EZH2):c.165C>G (p.Ile55Met)	EZH2 (I55M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity