Table 8. [EZH2 Pathogenic Variants Referenced in This GeneReview]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_004456.4 NP_004447.2	c.394C>T	p.Pro132Ser	Identified in a child who had a neuroblastoma in neonatal period that regressed spontaneously [Cohen et al 2016] ¹
c.395C>T	p.Pro132Leu	Identified in a child who had acute myeloid leukemia & secondary hemophagocytic lymphohistiocytosis at age 16 yrs [Usemann et al 2016] ¹
c.398A>G	p.Tyr133Cys	Identified in a child who had a neuroblastoma prenatally that required surgical resection [Cohen et al 2016] ¹
c.458A>G	p.Tyr153Cys	Identified in a child who had a neuroblastoma at age four yrs [Griffiths et al 2019] ¹
c.2044G>A	p.Ala682Thr	Identified in a child who had acute lymphoblastic leukemia & neuroblastoma at age 13 mos [Tatton-Brown et al 2013] ¹
c.2050C>T	p.Arg684Cys	Identified in a child who had a neuroblastoma at age 7 mos [Oh et al 2023] ¹
c.2233G>A	p.Glu745Lys	Identified in a child who had pre-T-cell non-Hodgkin lymphoma at age 13 yrs [Tatton-Brown et al 2013] ¹

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

NM_004456.4
NP_004447.2

c.394C>T

p.Pro132Ser

Identified in a child who had a neuroblastoma in neonatal period that regressed spontaneously [Cohen et al 2016] ¹

c.395C>T

p.Pro132Leu

Identified in a child who had acute myeloid leukemia & secondary hemophagocytic lymphohistiocytosis at age 16 yrs [Usemann et al 2016] ¹

c.398A>G

p.Tyr133Cys

Identified in a child who had a neuroblastoma prenatally that required surgical resection [Cohen et al 2016] ¹

c.458A>G

p.Tyr153Cys

Identified in a child who had a neuroblastoma at age four yrs [Griffiths et al 2019] ¹

c.2044G>A

p.Ala682Thr

Identified in a child who had acute lymphoblastic leukemia & neuroblastoma at age 13 mos [Tatton-Brown et al 2013] ¹

c.2050C>T

p.Arg684Cys

Identified in a child who had a neuroblastoma at age 7 mos [Oh et al 2023] ¹

c.2233G>A

p.Glu745Lys

Identified in a child who had pre-T-cell non-Hodgkin lymphoma at age 13 yrs [Tatton-Brown et al 2013] ¹

From: EZH2-Related Overgrowth

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