ClinVar Miner

List of variants reported as likely pathogenic for Carcinoma of esophagus

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 227
Download table as spreadsheet
HGVS dbSNP
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000141.4(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.5(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.5(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.5(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.5(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.5(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.5(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.5(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.5(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.5(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001005862.2(ERBB2):c.2215G>T (p.Asp739Tyr) rs121913468
NM_001013415.2(FBXW7):c.1039C>G (p.Arg347Gly) rs867384286
NM_001013415.2(FBXW7):c.1039C>T (p.Arg347Cys) rs867384286
NM_001013415.2(FBXW7):c.1040G>A (p.Arg347His) rs1057519895
NM_001013415.2(FBXW7):c.1040G>C (p.Arg347Pro) rs1057519895
NM_001013415.2(FBXW7):c.1040G>T (p.Arg347Leu) rs1057519895
NM_001013415.2(FBXW7):c.1159C>A (p.Arg387Ser) rs149680468
NM_001013415.2(FBXW7):c.1159C>G (p.Arg387Gly) rs149680468
NM_001013415.2(FBXW7):c.1160G>T (p.Arg387Leu) rs1057519896
NM_001126112.2(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_001126112.2(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_001126112.2(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_001126112.2(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_001126112.2(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126113.2(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_001126113.2(TP53):c.577C>A (p.His193Asn) rs876658468
NM_001126113.2(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_001126114.2(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_001126114.2(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_001126114.2(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_001126114.2(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_001126114.2(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_001126115.1(TP53):c.182A>C (p.His61Pro) rs786201838
NM_001126115.1(TP53):c.187A>T (p.Ile63Phe) rs942158624
NM_001126115.1(TP53):c.334G>C (p.Gly112Arg) rs1057519989
NM_001126115.1(TP53):c.400G>C (p.Gly134Arg) rs1057519990
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.412T>G (p.Phe138Val) rs1057519988
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001126116.1(TP53):c.188T>G (p.Ile63Ser) rs760043106
NM_001126116.1(TP53):c.251T>A (p.Val84Glu) rs1057520004
NM_001126116.1(TP53):c.330C>G (p.Cys110Trp) rs375874539
NM_001126116.1(TP53):c.7T>C (p.Cys3Arg) rs1057519975
NM_001126117.1(TP53):c.140A>C (p.His47Pro) rs1057519991
NM_001126117.1(TP53):c.141T>G (p.His47Gln) rs876660821
NM_001126117.1(TP53):c.218A>T (p.Tyr73Phe) rs1057520007
NM_001126117.1(TP53):c.251T>G (p.Val84Gly) rs1057520004
NM_001126117.1(TP53):c.368T>G (p.Ile123Ser) rs876659675
NM_001126117.1(TP53):c.414T>G (p.Phe138Leu) rs1057519987
NM_001126117.1(TP53):c.460G>C (p.Glu154Gln) rs786201059
NM_001126117.1(TP53):c.461A>T (p.Glu154Val) rs1057519985
NM_001126118.1(TP53):c.286T>A (p.Cys96Ser) rs1057519975
NM_001126118.1(TP53):c.418C>G (p.His140Asp) rs587780070
NM_001126118.1(TP53):c.497A>C (p.Tyr166Ser) rs1057520007
NM_001276761.1(TP53):c.625C>G (p.Arg209Gly) rs121912651
NM_001429.3(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.3(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001664.3(RHOA):c.13C>T (p.Arg5Trp) rs1057519952
NM_001664.3(RHOA):c.14G>A (p.Arg5Gln) rs1057519953
NM_001664.3(RHOA):c.14G>T (p.Arg5Leu) rs1057519953
NM_001904.3(CTNNB1):c.109T>C (p.Ser37Pro) rs121913228
NM_001904.3(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.3(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.3(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.3(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.3(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.3(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.3(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.3(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.3(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.3(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002467.5(MYC):c.173C>T (p.Pro58Leu) rs1057519918
NM_002467.5(MYC):c.217A>C (p.Thr73Pro) rs750664148
NM_002467.5(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_004448.3(ERBB2):c.2305G>A (p.Asp769Asn) rs121913468
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004985.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_005228.4(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_005359.5(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.5(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.5(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.5(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_006218.3(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.3(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.3(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
NM_006218.3(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.3(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.3(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.3(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.3(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_022970.3(FGFR2):c.1144T>C (p.Tyr382His) rs387906678
NM_022970.3(FGFR2):c.1148G>A (p.Cys383Tyr) rs1057519900
NM_033632.3(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.