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: rs28933368
rs28933368
ERBB2 ; MIR4728
0.851 0.080 17 39725721 missense variant G/A snv
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		0.800 1.000 0 2004 2004
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.710 1.000 1 2016 2018
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2012 2014
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.710 1.000 1 2011 2014
dbSNP: rs121913470
rs121913470
ERBB2
0.776 0.200 17 39723967 missense variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 5 2008 2016
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 5 2007 2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
1.000 17 39687906 stop gained C/A snv 2.1E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.700 1.000 5 2007 2018
dbSNP: rs397516981
rs397516981
ERBB2 ; MIR4728
1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 5 2005 2012
dbSNP: rs121913468
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 2006 2016
dbSNP: rs121913471
rs121913471
ERBB2 ; MIR4728
0.807 0.120 17 39724747 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 4 2011 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 3 2006 2016
dbSNP: rs397516980
rs397516980
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant G/TTAT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2005 2006
dbSNP: rs397516982
rs397516982
ERBB2 ; MIR4728
1.000 0.080 17 39724749 inframe insertion -/GGCTCCCCA delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 3 2004 2012
dbSNP: rs397516976
rs397516976
ERBB2 ; MIR4728
1.000 0.080 17 39724733 inframe insertion -/CTCCGTGATGGC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2004 2012
dbSNP: rs397516979
rs397516979
ERBB2 ; MIR4728
1.000 0.080 17 39724744 protein altering variant -/TCT;TGT;TTT ins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 2 2005 2006
dbSNP: rs758222990
rs758222990
ERBB2 ; MIR4728
1.000 0.080 17 39725363 missense variant C/G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 2 2006 2013
dbSNP: rs1057519737
rs1057519737
ERBB2 ; MIR4728
17 39724750 inframe insertion -/GCTCCCCAG delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		0.700 1.000 1 2016 2016
dbSNP: rs1057519738
rs1057519738
ERBB2 ; MIR4728
0.790 0.160 17 39725079 missense variant G/A snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519787
rs1057519787
ERBB2
1.000 0.040 17 39711952 missense variant G/A;C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2012 2012