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: rs1131692237
rs1131692237
ERBB2 ; MIR4728
1.000 0.040 17 39725161 missense variant T/G snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs121913469
rs121913469
ERBB2
0.763 0.240 17 39723966 missense variant TT/CC mnv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs1555618025
rs1555618025
ERBB2 ; MIR4728
1.000 0.080 17 39724733 inframe insertion -/TCCGTGATGGCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs28933369
rs28933369
ERBB2 ; MIR4728
0.925 0.080 17 39724744 missense variant G/A snv
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.700 0
dbSNP: rs28933370
rs28933370
ERBB2 ; MIR4728
0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs397516975
rs397516975
ERBB2 ; MIR4728
0.925 0.080 17 39724728 inframe insertion -/ATACGTGATGGC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
dbSNP: rs397516977
rs397516977
ERBB2 ; MIR4728
1.000 0.080 17 39724731 inframe insertion -/TACGTGATGGCT delins
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs397516978
rs397516978
ERBB2 ; MIR4728
1.000 0.080 17 39724738 frameshift variant A/- del
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 0
dbSNP: rs587776805
rs587776805
ERBB2 ; MIR4728
1.000 0.040 17 39724745 inframe insertion -/TGTGGGCTC delins
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 0
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: 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
dbSNP: rs1057519787
rs1057519787
ERBB2
1.000 0.040 17 39711952 missense variant G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2013 2013
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016