Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587783626
rs587783626
EZH2
1.000 0.120 7 148809370 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 1.000 2 2011 2017
dbSNP: rs587783625
rs587783625
EZH2
1.000 0.120 7 148811696 missense variant C/T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.800 1.000 0 2011 2017
dbSNP: rs267601394
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.720 1.000 2 2012 2016
dbSNP: rs1057519833
rs1057519833
EZH2
0.925 0.120 7 148809375 missense variant G/C snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.710 1.000 1 2012 2012
dbSNP: rs1554499814
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 5 1998 2013
dbSNP: rs1554499814
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 1998 2013
dbSNP: rs1057519894
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519894
rs1057519894
EZH2
0.925 0.160 7 148811650 missense variant T/A;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs267601394
rs267601394
EZH2
0.807 0.200 7 148811635 missense variant T/A;G snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.700 1.000 1 2012 2012
dbSNP: rs267601395
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs267601395
rs267601395
EZH2
0.925 0.160 7 148811636 missense variant A/G;T snv
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs775407864
rs775407864
EZH2
1.000 0.120 7 148846567 missense variant A/G snv 3.6E-05 7.8E-05
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs797044844
rs797044844
EZH2
1.000 0.120 7 148829754 missense variant T/C snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs1060503430
rs1060503430
EZH2
1.000 0.120 7 148810372 missense variant C/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs1131692184
rs1131692184
EZH2
1.000 0.120 7 148807689 missense variant G/C;T snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs1563181659
rs1563181659
EZH2
1.000 0.120 7 148807681 inframe insertion -/TTC delins
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs193921147
rs193921147
EZH2
1.000 0.120 7 148809340 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs193921148
rs193921148
EZH2
1.000 0.120 7 148829818 missense variant G/A snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs587783627
rs587783627
EZH2
1.000 0.120 7 148807666 missense variant T/C snv
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0
dbSNP: rs797045568
rs797045568
EZH2
1.000 0.120 7 148809078 frameshift variant -/A delins
CUI: C0265210
Disease: Weaver syndrome
Weaver syndrome 		0.700 0