Full data view for gene EZH2

Information The variants shown are described using the NM_004456.4 transcript reference sequence.

173 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.-168dup r.(?) p.(=) Parent #1 - pathogenic g.148581422dup g.148884330dup - - EZH2_000077 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.2195+647_*274[0] r.? p.? Unknown - pathogenic (dominant) g.148480100_148505516del g.148783008_148808424del - - EZH2_000111 - PubMed: Imagawa 2017 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ? Fam1PatII1 PubMed: Imagawa 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.2205G>Y r.(?) p.(Gln735His) Unknown - pathogenic (dominant) g.148504789C>R g.148807697C>R Gln735His - EZH2_000108 - PubMed: Tatton-Brown 2013 - - De novo - - - 0 - DNA SEQ - - WVS Case42 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.475G>M r.(?) p.(Gly159Arg) Unknown - pathogenic (dominant) g.148526829C>K g.148829737C>K Gly159Arg - EZH2_000109 - PubMed: Tatton-Brown 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - WVS Case16 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+?/? - c.? r.(?) p.(Asn640) Parent #1 - likely pathogenic g.? - Asn635 - EZH2_000057 - PubMed: Morin 2010 - - Somatic - - - 0 - DNA, RNA SEQ - - FL-1 - PubMed: Morin 2010 Found, in cis, in conjunction with a Tyr641 mutation ? - - - - 0 - - 7 Global Variome, with Curator vacancy
+?/? - c.? r.(?) p.(Asn640) Parent #1 - likely pathogenic g.? - Asn635 - EZH2_000001 - PubMed: Morin 2010 - - Somatic - - - 0 - DNA, RNA SEQ - - ? - PubMed: Morin 2010 Found, in cis, in conjunction with a Tyr641 mutation ? - - - - 0 - - 2 Global Variome, with Curator vacancy
+/? 2 c.73C>T r.(?) p.(Arg25*) Parent #2 - pathogenic g.148544318G>A g.148847226G>A p.Arg25X + p.Gly564fsX110 - EZH2_000060 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - pathogenic (dominant) g.148544317C>T g.148847225C>T Arg25Gln - EZH2_000126 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case1 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - pathogenic (dominant) g.148544317C>T g.148847225C>T Arg25Gln - EZH2_000126 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case2 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.74G>A r.(?) p.(Arg25Gln) Unknown - pathogenic (dominant) g.148544317C>T g.148847225C>T Arg25Gln - EZH2_000126 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case3 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
-/. 2i c.118-63G>A r.(=) p.(=) Parent #1 - benign g.148543753C>T g.148846661C>T - - EZH2_000078 - - - rs28723387 Germline - up to 0.5% - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 2i c.118-4del r.spl? p.? Parent #1 - benign g.148543704del g.148846612del - - EZH2_000079 - - - rs3214332 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.118-4del r.spl? p.? Unknown - benign g.148543704del g.148846612del EZH2(NM_001203247.1):c.118-4del (p.?), EZH2(NM_004456.4):c.118-4delT - EZH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.118-4del r.spl? p.? Unknown - likely benign g.148543704del g.148846612del EZH2(NM_001203247.1):c.118-4del (p.?), EZH2(NM_004456.4):c.118-4delT - EZH2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.134A>G r.(?) p.(Asn45Ser) Unknown - VUS g.148543674T>C g.148846582T>C - - EZH2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.172C>T r.(?) p.(Gln58*) Parent #2 - pathogenic g.148543636G>A g.148846544G>A p.Gln58X + p.Cys571Tyr - EZH2_000009 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 3 c.184C>T r.(?) p.(Gln62*) Unknown - pathogenic g.148543624G>A g.148846532G>A p.Gln62X - EZH2_000011 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 3 c.190dup r.(?) p.(Arg64Lysfs*18) Unknown - pathogenic g.148543619dup g.148846527dup c.188_189ins10, p.Arg63fsX18 - EZH2_000012 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 3 c.216_217del r.(?) p.(Ser73Cysfs*8) Parent #2 - pathogenic g.148543591_148543592del g.148846499_148846500del c.216_217het_delTT, p.Thr72fsX8 + p.Gly660Arg - EZH2_000030 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. 3i c.246+37T>C r.(=) p.(=) Parent #1 - benign g.148543525A>G g.148846433A>G - - EZH2_000080 - - - rs10274535 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. 3i c.247-80G>A r.(=) p.(=) Parent #1 - benign g.148529922C>T g.148832830C>T - - EZH2_000081 - - - rs17552167 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.390C>A r.(?) p.(Asn130Lys) Unknown - pathogenic (dominant) g.148526914G>T g.148829822G>T Asn130Lys - EZH2_000125 - PubMed: Tatton-Brown 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - WVS Case4 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/+ 5 c.394C>T r.(?) p.(Pro132Ser) Unknown - pathogenic (dominant) g.148526910G>A g.148829818G>A p.Pro132Ser - EZH2_000054 - PubMed: Gibson 2012, PubMed: Cohen 2016, PubMed: Choufani 2020 - - De novo - - - 0 - DNA SEQ - - WVS Proband3 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - 0 - - 1 Ana Cohen
+?/+ 5 c.394C>T r.(?) p.(Pro132Ser) Unknown - pathogenic (dominant) g.148526910G>A g.148829818G>A - - EZH2_000054 - PubMed: Cohen 2016, PubMed: Choufani 2020 - - De novo - - - 0 specific methylation differences on methylation array analysis DNA SEQ - - WVS Proband4 PubMed: Huffman 2001, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - 0 - - 1 Ana Cohen
-?/. - c.396T>C r.(?) p.(Pro132=) Unknown - likely benign g.148526908A>G - EZH2(NM_004456.4):c.396T>C (p.P132=) - EZH2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 5 c.398A>G r.(?) p.(Tyr133Cys) Unknown - pathogenic (dominant) g.148526906T>C g.148829814T>C - - EZH2_000055 - PubMed: Cohen 2016, PubMed: Choufani 2020 - - De novo - - - 0 - DNA SEQ - - WVS Proband6 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - 0 - - 1 Ana Cohen
+?/+ 5 c.398A>G r.(?) p.(Tyr133Cys) Unknown - pathogenic (dominant) g.148526906T>C g.148829814T>C - - EZH2_000055 - PubMed: Cohen 2016, PubMed: Choufani 2020 - - De novo - - - 0 specific methylation differences on methylation array DNA SEQ - - WVS Proband7 PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France Caucasian - 0 - - 1 Ana Cohen
+/? 5 c.401T>C r.(?) p.(Met134Thr) Unknown - pathogenic g.148526903A>G g.148829811A>G p.Met134Thr - EZH2_000061 - PubMed: Tatton-Brown 2011 - - De novo - - - 0 - DNA SEQ - - WVS Case1/Case5 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Ana Cohen
+/. - c.433T>C^435C>R r.(?) p.(Phe145Leu) Unknown - pathogenic (dominant) g.148526869A>Y^148526871A>G g.148829777A>Y^148829779A>G Phe145Leu - EZH2_000110 - PubMed: Tatton-Brown 2013 - - De novo - - - 0 - DNA SEQ - - WVS Case6 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/? 5 c.434T>G r.(?) p.(Phe145Cys) Unknown - pathogenic g.148526870A>C g.148829778A>C p.Phe145Cys - EZH2_000034 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.442G>A r.(?) p.(Glu148Lys) Unknown - pathogenic (dominant) g.148526862C>T g.148829770C>T Glu148Lys - EZH2_000124 - PubMed: Tatton-Brown 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - WVS Case7 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/? 5 c.442_444dup r.(?) p.(Glu148dup) Parent #2 - pathogenic g.148526863_148526865dup g.148829771_148829773dup c.444_445het_insG1010, p.ins_Glu149 + p.Arg684Cys - EZH2_000035 - PubMed: Ernst 2010 - - De novo - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.443A>G r.(?) p.(Glu148Gly) Unknown - pathogenic (dominant) g.148526861T>C g.148829769T>C Glu148Gly - EZH2_000123 - PubMed: Tatton-Brown 2013 - - De novo - - - 0 - DNA SEQ - - WVS Case8 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+?/. - c.457T>C r.(?) p.(Tyr153His) Unknown - likely pathogenic g.148526847A>G - - - EZH2_000131 - - - - Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 5 c.457_459del r.(?) p.(Tyr153del) Unknown - pathogenic (dominant) g.148526847_148526849del g.148829755_148829757del c.457_459del - EZH2_000052 - PubMed: Gibson 2012, PubMed: Cohen 2016, PubMed: Choufani 2020 - - De novo - - - 0 specific methylation differences on methylation array analysis DNA SEQ-NG-I - - WVS Proband1 PubMed: Gibson 2012, PubMed: Cohen 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States Caucasian - 0 - - 1 William Gibson
+/. 5 c.458A>G r.(?) p.(Tyr153Cys) Parent #1 - pathogenic g.148526846T>C g.148829754T>C - - EZH2_000075 - - - - Germline - - - 0 - DNA SEQ - - WVS - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.458A>G r.(?) p.(Tyr153Cys) Unknown - pathogenic (dominant) g.148526846T>C g.148829754T>C Tyr153Cys - EZH2_000075 - PubMed: Tatton-Brown 2013 - - De novo - - - 0 - DNA SEQ - - WVS Case9 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
?/. - c.464G>A r.(?) p.(Gly155Glu) Unknown - VUS g.148526840C>T g.148829748C>T - - EZH2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case2/Case10 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case11 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case12 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case13 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case14 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.466A>G r.(?) p.(Lys156Glu) Unknown - pathogenic (dominant) g.148526838T>C g.148829746T>C Lys156Glu - EZH2_000122 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case15 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+?/. - c.475G>A r.(?) p.(Gly159Arg) Unknown - likely pathogenic g.148526829C>T g.148829737C>T EZH2(NM_004456.4):c.475G>A (p.(Gly159Arg)) - EZH2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552_554del r.(?) p.(Asp189del) Unknown - likely benign g.148525910_148525912del g.148828818_148828820del EZH2(NM_001203247.1):c.552_554del (p.(Asp189del)) - EZH2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6 c.553G>C r.(?) p.(Asp185His) Parent #1 - benign g.148525904C>G g.148828812C>G - - EZH2_000056 - - - rs2302427 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/? 6 c.553G>C r.(?) p.(Asp185His) Unknown - VUS g.148525904C>G g.148828812C>G - - EZH2_000056 variant of unknown significance - - - Germline - - - 0 - DNA SEQ - - ? - Vancouver: Canada Weaver-like features M no Italy Caucasian - 0 - - 1 Ana Cohen
?/? 6 c.553G>C r.(?) p.(Asp185His) Unknown - VUS g.148525904C>G g.148828812C>G - - EZH2_000056 variant of unknown significance - - - Germline - - - 0 - DNA SEQ - - ? - Vancouver: Canada Weaver-like features F no Portugal Caucasian - 0 - - 1 Ana Cohen
-/. - c.553G>C r.(?) p.(Asp185His) Unknown - benign g.148525904C>G - - - EZH2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 6 c.574G>A r.(?) p.(Asp192Asn) Unknown - pathogenic g.148525883C>T g.148828791C>T p.Asp192Asn - EZH2_000036 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 6 c.619C>T r.(?) p.(Arg207*) Both (homozygous) - pathogenic g.148525838G>A g.148828746G>A p.Arg207X - EZH2_000037 - PubMed: Ernst 2010 - - Uniparental disomy - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.657T>C r.(?) p.(Pro219=) Unknown - likely benign g.148524327A>G g.148827235A>G EZH2(NM_004456.4):c.657T>C (p.P219=) - EZH2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.659C>T r.(?) p.(Ser220Phe) Unknown - VUS g.148524325G>A g.148827233G>A EZH2(NM_004456.4):c.659C>T (p.(Ser220Phe)) - EZH2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698A>T r.(?) p.(Asp233Val) Unknown - pathogenic (dominant) g.148524286T>A g.148827194T>A Asp233Val - EZH2_000121 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case17 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.698A>T r.(?) p.(Asp233Val) Unknown - pathogenic (dominant) g.148524286T>A g.148827194T>A Asp233Val - EZH2_000121 - PubMed: Tatton-Brown 2013 - - Germline - - - 0 - DNA SEQ - - WVS Case18 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+/? 7 c.727A>C r.(?) p.(Lys243Gln) Unknown - pathogenic g.148524257T>G g.148827165T>G p.Lys243Gln - EZH2_000038 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - HES - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 7i c.729-2del r.spl? p.? Both (homozygous) - pathogenic g.148523726del g.148826634del intron delA (2bp prior exon8) - EZH2_000039 - PubMed: Ernst 2010 - - Uniparental disomy - - - 0 - DNA SEQ, MCA - - EDS-5 - PubMed: Miyake 2010 - F - - Japanese - 0 - - 1 Global Variome, with Curator vacancy
+/? 8 c.730T>G r.(?) p.(Tyr244Asp) Parent #1 - pathogenic g.148523723A>C g.148826631A>C p.Tyr244Asp +p.His297Arg - EZH2_000040 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 8 c.745G>A r.(?) p.(Glu249Lys) Parent #2 - pathogenic g.148523708C>T g.148826616C>T p.Glu249Lys + p.Ala656Val - EZH2_000042 - PubMed: Ernst 2010 - - De novo - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 8 c.754C>G r.(?) p.(Leu252Val) Unknown - pathogenic g.148523699G>C g.148826607G>C p.Leu252Val - EZH2_000043 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 8 c.758dup r.(?) p.(Gly254Argfs*6) Unknown - pathogenic g.148523697dup g.148826605dup c.755_756het_insC, p.Leu252fsX7 - EZH2_000044 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 8 c.763G>A r.(?) p.(Ala255Thr) Unknown - pathogenic g.148523690C>T g.148826598C>T p.Ala255Thr - EZH2_000045 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.766C>G r.(?) p.(Leu256Val) Unknown - VUS g.148523687G>C g.148826595G>C - - EZH2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8 c.786dup r.(?) p.(Asn263Glnfs*8) Unknown - pathogenic g.148523671dup g.148826579dup c.786_787het_insC, p.Asn263fsX7 - EZH2_000046 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
./. - c.835C>T r.(?) p.(His279Tyr) Paternal (confirmed) - pathogenic g.148523618G>A g.148826526G>A - - EZH2_000086 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+?/. - c.835C>T r.(?) p.(His279Tyr) Paternal (confirmed) ACMG likely pathogenic g.148523618G>A g.148826526G>A - - EZH2_000086 - PubMed: Faundes 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? 259150 PubMed: Faundes 2018 - - - - - - 0 - - 1 Johan den Dunnen
+/? 8 c.836A>G r.(?) p.(His279Arg) Unknown - pathogenic g.148523617T>C g.148826525T>C p.His279Arg - EZH2_000062 - PubMed: Tatton-Brown 2011 - - De novo - - - 0 - DNA SEQ-NG-I - - WVS Case3/Case19 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Ana Cohen
+?/. - c.836A>G r.(?) p.(His279Arg) Unknown - likely pathogenic g.148523617T>C g.148826525T>C - - EZH2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 8 c.863G>A r.(?) p.(Arg288Gln) Both (homozygous) - pathogenic g.148523590C>T g.148826498C>T p.Arg288Gln - EZH2_000047 - PubMed: Ernst 2010 - - Uniparental disomy - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.868T>G r.(?) p.(Phe290Val) Unknown - VUS g.148523585A>C g.148826493A>C EZH2(NM_001203247.1):c.868T>G (p.(Phe290Val)) - EZH2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 8 c.890A>G r.(?) p.(His297Arg) Parent #2 - pathogenic g.148523563T>C g.148826471T>C p.Tyr244Asp +p.His297Arg - EZH2_000048 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.907+5G>A r.spl? p.? Unknown - VUS g.148523541C>T - EZH2(NM_004456.4):c.907+5G>A - EZH2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.949G>T r.(?) p.(Glu317*) Unknown - pathogenic g.148516738C>A g.148819646C>A p.Glu317X - EZH2_000049 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 9 c.965A>G r.(?) p.(Asn322Ser) Unknown - pathogenic g.148516722T>C g.148819630T>C p.Asn322Ser - EZH2_000050 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.965A>G r.(?) p.(Asn322Ser) Unknown - likely benign g.148516722T>C g.148819630T>C EZH2(NM_004456.4):c.965A>G (p.N322S) - EZH2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.982C>T r.(?) p.(Gln328*) Both (homozygous) - pathogenic g.148516705G>A g.148819613G>A p.Gln328X - EZH2_000051 de novo PubMed: Ernst 2010 - - Uniparental disomy - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 10 c.1033G>A r.(?) p.(Ala345Thr) Paternal (inferred) - pathogenic g.148515176C>T g.148818084C>T p.Ala345Thr - EZH2_000002 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - EDS-5 - PubMed: Miyake 2010 - M - - Japanese - 0 - - 1 Global Variome, with Curator vacancy
+/? 10 c.1176_1177del r.(?) p.(Glu392Aspfs*7) Both (homozygous) - pathogenic g.148515033_148515034del g.148817941_148817942del c.1175_1176het_del1010, p.Glu392fsX6 - EZH2_000003 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - EDS-5 - PubMed: Miyake 2010 - F - - Japanese - 0 - - 1 Global Variome, with Curator vacancy
+/? 10 c.1200_1203del r.(?) p.(Glu401Lysfs*22) Both (homozygous) - pathogenic g.148515008_148515011del g.148817916_148817919del c.121010_12103del10G1010, p.Lys400fsX22 - EZH2_000004 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - CML - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1459G>A r.(?) p.(Ala487Thr) Unknown - likely benign g.148513822C>T - EZH2(NM_001203247.1):c.1444G>A (p.(Ala482Thr)) - EZH2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1506-4G>A r.spl? p.? Unknown - likely benign g.148512642C>T - EZH2(NM_004456.4):c.1506-4G>A - EZH2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 13 c.1513del r.(?) p.(Ala505Leufs*9) Unknown - pathogenic g.148512633del g.148815541del c.1513het_delG, p.Ala505fsX8 - EZH2_000059 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 13 c.1525A>G r.(?) p.(Arg509Gly) Unknown - pathogenic g.148512619T>C g.148815527T>C p.Arg509Gly - EZH2_000005 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1689G>A r.(?) p.(Pro563=) Unknown - VUS g.148511213C>T g.148814121C>T - - EZH2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 15 c.1691del r.(?) p.(Gly564Aspfs*111) Parent #1 - pathogenic g.148511213del g.148814121del c.1691het_delG, p.Arg25X + p.Gly564fsX110 - EZH2_000006 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - M - - - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.1702A>G r.(?) p.(Lys568Glu) Unknown - pathogenic (dominant) g.148511200T>C g.148814108T>C Lys568Glu - EZH2_000120 - PubMed: Tatton-Brown 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - WVS Case20 PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Johan den Dunnen
+/? 15 c.1712G>A r.(?) p.(Cys571Tyr) Parent #1 - pathogenic g.148511190C>T g.148814098C>T p.Gln58X + p.Cys571Tyr - EZH2_000007 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - JMML;CMML - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
+/? 15 c.1728C>G r.(?) p.(Cys576Trp) Both (homozygous) - pathogenic g.148511174G>C g.148814082G>C p.Cys576Trp - EZH2_000008 - PubMed: Ernst 2010 - - Uniparental disomy - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - F - - - - 0 - - 1 Global Variome, with Curator vacancy
-?/. - c.1731G>A r.(?) p.(Pro577=) Unknown - likely benign g.148511171C>T g.148814079C>T EZH2(NM_001203247.1):c.1716G>A (p.(=)) - EZH2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 15 c.1774_1777del r.(?) p.(Thr592Valfs*82) Unknown - pathogenic g.148511128_148511131del g.148814036_148814039del c.1774_1777het_del10CTT, p.Thr592fsX82 - EZH2_000010 - PubMed: Ernst 2010 - - Somatic - - - 0 - DNA SEQ, MCA - - ? - PubMed: Ernst 2010 - ? - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.1786G>A r.(?) p.(Ala596Thr) Unknown - VUS g.148511116C>T g.148814024C>T EZH2(NM_004456.4):c.1786G>A (p.A596T) - EZH2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15i c.1852-21T>C r.(=) p.(=) Parent #1 - benign g.148508833A>G g.148811741A>G - - EZH2_000082 - - - rs2072407 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.1852-9A>G r.(=) p.(=) Unknown - likely benign g.148508821T>C - EZH2(NM_004456.4):c.1852-9A>G - EZH2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1852-6C>T r.(=) p.(=) Unknown - likely benign g.148508818G>A g.148811726G>A EZH2(NM_001203247.1):c.1837-6C>T (p.(=)), EZH2(NM_004456.4):c.1852-6C>T - EZH2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1852-6C>T r.(=) p.(=) Unknown - likely benign g.148508818G>A g.148811726G>A EZH2(NM_001203247.1):c.1837-6C>T (p.(=)), EZH2(NM_004456.4):c.1852-6C>T - EZH2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1852C>T r.(?) p.(His618Tyr) Unknown - pathogenic (dominant) g.148508812G>A g.148811720G>A His618Tyr - EZH2_000119 - PubMed: Tatton-Brown 2013 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - WVS Case21 PubMed: Tatton-Brown 2013 - M - - - - 0 - - 1 Johan den Dunnen
+/? 16 c.1876G>A r.(?) p.(Val626Met) Unknown - pathogenic g.148508788C>T g.148811696C>T p.Val626Met - EZH2_000063 - PubMed: Tatton-Brown 2011 - - De novo - - - 0 - DNA SEQ - - WVS Case4/Case22 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Ana Cohen
+/. - c.1876G>A r.(?) p.(Val626Met) Unknown - pathogenic (dominant) g.148508788C>T g.148811696C>T - - EZH2_000063 - PubMed: Choufani 2020 - - De novo - - - 0 - DNA SEQ - - WVS DiscoveryPat8 PubMed: Choufani 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/? 16 c.1915A>G r.(?) p.(Lys639Glu) Unknown - pathogenic g.148508749T>C g.148811657T>C p.Lys639Glu - EZH2_000064 - PubMed: Tatton-Brown 2011 - - De novo - - - 0 - DNA SEQ - - WVS Case5/Case23 PubMed: Tatton-Brown 2011, PubMed: Tatton-Brown 2013 - F - - - - 0 - - 1 Ana Cohen
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