ERBB2 — 772 ClinVar variants
All ClinVar germline ERBB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 353 flagged for review →
15 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 9 Conflicting · 36 Benign · 5 Benign/Likely benign · 318 Likely benign · 384 Uncertain significance
Full ERBB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 353
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ERBB2 p.Asn857Ser
Pathogenic
No assertion criteria
ovarian neoplasm
-
ERBB2 p.Gly776Ser
Pathogenic
No assertion criteria
gastric cancer
-
ERBB2 p.Ser653Phe
Pathogenic
No assertion criteria
urinary bladder cancer
-
ERBB2 p.Val839Met
Pathogenic
No assertion criteria
urinary bladder cancer
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 198
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 198
-
ERBB2 p.Ala598Asp
Uncertain significance
Multiple submitters
glioma susceptibility 1
- ERBB2 p.Ala644Thr Uncertain significance Multiple submitters
-
ERBB2 p.Arg188Cys
Uncertain significance
Multiple submitters
lung cancer
- ERBB2 p.Arg188His Uncertain significance Multiple submitters
-
ERBB2 p.Arg190Gln
Uncertain significance
Multiple submitters
lung cancer
-
ERBB2 p.Arg517Gln
Uncertain significance
Multiple submitters
ovarian cancer
- ERBB2 p.Arg683Pro Uncertain significance Multiple submitters
-
ERBB2 p.Arg756Ser
Uncertain significance
Multiple submitters
colorectal cancer
- ERBB2 p.Gln51Arg Uncertain significance Multiple submitters
-
ERBB2 p.Gly1015Glu
Uncertain significance
Multiple submitters
glioma susceptibility 1
-
ERBB2 p.Gly1056Ser
Uncertain significance
Multiple submitters
glioma susceptibility 1
-
ERBB2 p.His470Arg
Uncertain significance
Multiple submitters
gastric cancer
-
ERBB2 p.His519Arg
Uncertain significance
Multiple submitters
ovarian cancer
-
ERBB2 p.Leu1061Pro
Uncertain significance
Multiple submitters
glioma susceptibility 1
-
ERBB2 p.Lys1096Asn
Uncertain significance
Multiple submitters
lung cancer
- ERBB2 p.Lys1182Gln Uncertain significance Multiple submitters
- ERBB2 p.Met198Thr Uncertain significance Multiple submitters
- ERBB2 p.Met31Val Uncertain significance Multiple submitters
-
ERBB2 p.Pro1037Leu
Uncertain significance
Multiple submitters
ovarian cancer
- ERBB2 p.Pro1143Leu Uncertain significance Multiple submitters
- ERBB2 p.Pro128Arg Uncertain significance Multiple submitters
- ERBB2 p.Ser1050Leu Uncertain significance Multiple submitters
- ERBB2 p.Thr1103Ile Uncertain significance Multiple submitters
- ERBB2 p.Thr1166Ala Uncertain significance Multiple submitters
-
ERBB2 p.Thr67Ala
Uncertain significance
Multiple submitters
gastric cancer
- ERBB2 p.Val1128Ile Uncertain significance Multiple submitters
-
ERBB2 p.Val25Ala
Uncertain significance
Multiple submitters
gastric cancer
- ERBB2 p.Ala1020Ser Uncertain significance Single submitter
- ERBB2 p.Ala1036Val Uncertain significance Single submitter
- ERBB2 p.Ala1081Ser Uncertain significance Single submitter
- ERBB2 p.Ala115Thr Uncertain significance Single submitter
- ERBB2 p.Ala1163Thr Uncertain significance Single submitter
- ERBB2 p.Ala1165Thr Uncertain significance Single submitter
- ERBB2 p.Ala1186Thr Uncertain significance Single submitter
- ERBB2 p.Ala1204Gly Uncertain significance Single submitter
- ERBB2 p.Ala14Val Uncertain significance Single submitter
- ERBB2 p.Ala20Val Uncertain significance Single submitter
- ERBB2 p.Ala21Gly Uncertain significance Single submitter
- ERBB2 p.Ala365Thr Uncertain significance Single submitter
- ERBB2 p.Ala375Thr Uncertain significance Single submitter
- ERBB2 p.Ala440Thr Uncertain significance Single submitter
- ERBB2 p.Ala440Val Uncertain significance Single submitter
- ERBB2 p.Ala466Val Uncertain significance Single submitter
- ERBB2 p.Ala4Ser Uncertain significance Single submitter
- ERBB2 p.Ala586Val Uncertain significance Single submitter
- ERBB2 p.Ala622Thr Uncertain significance Single submitter
- ERBB2 p.Ala648Val Uncertain significance Single submitter
- ERBB2 p.Ala657Val Uncertain significance Single submitter
- ERBB2 p.Ala848Thr Uncertain significance Single submitter
- ERBB2 p.Ala997Ser Uncertain significance Single submitter
- ERBB2 p.Arg1048His Uncertain significance Single submitter
- ERBB2 p.Arg1053Gly Uncertain significance Single submitter
- ERBB2 p.Arg1072Thr Uncertain significance Single submitter
- ERBB2 p.Arg1111Gln Uncertain significance Single submitter
- ERBB2 p.Arg1146Gln Uncertain significance Single submitter
- ERBB2 p.Arg1153Gln Uncertain significance Single submitter
- ERBB2 p.Arg1230Gln Uncertain significance Single submitter
- ERBB2 p.Arg1230Leu Uncertain significance Single submitter
- ERBB2 p.Arg1230Pro Uncertain significance Single submitter
- ERBB2 p.Arg157Gln Uncertain significance Single submitter
- ERBB2 p.Arg217His Uncertain significance Single submitter
- ERBB2 p.Arg34Trp Uncertain significance Single submitter
- ERBB2 p.Arg487Gln Uncertain significance Single submitter
- ERBB2 p.Arg487Leu Uncertain significance Single submitter
- ERBB2 p.Arg545Gln Uncertain significance Single submitter
- ERBB2 p.Arg599His Uncertain significance Single submitter
- ERBB2 p.Arg647Lys Uncertain significance Single submitter
- ERBB2 p.Arg811Trp Uncertain significance Single submitter
- ERBB2 p.Arg816Cys Uncertain significance Single submitter
- ERBB2 p.Arg816His Uncertain significance Single submitter
- ERBB2 p.Arg896Gly Uncertain significance Single submitter
- ERBB2 p.Arg896His Uncertain significance Single submitter
- ERBB2 p.Arg897Gln Uncertain significance Single submitter
- ERBB2 p.Arg897Trp Uncertain significance Single submitter
- ERBB2 p.Arg970Gln Uncertain significance Single submitter
- ERBB2 p.Asn111Ser Uncertain significance Single submitter
- ERBB2 p.Asn1178Ser Uncertain significance Single submitter
- ERBB2 p.Asn176Lys Uncertain significance Single submitter
- ERBB2 p.Asn187Lys Uncertain significance Single submitter
- ERBB2 p.Asn471Asp Uncertain significance Single submitter
- ERBB2 p.Asn488Thr Uncertain significance Single submitter
- ERBB2 p.Asn530Ser Uncertain significance Single submitter
- ERBB2 p.Asp1125Glu Uncertain significance Single submitter
- ERBB2 p.Asp1144His Uncertain significance Single submitter
- ERBB2 p.Asp121Val Uncertain significance Single submitter
- ERBB2 p.Asp1224Glu Uncertain significance Single submitter
- ERBB2 p.Asp1252Asn Uncertain significance Single submitter
-
ERBB2 p.Asp502Glu
Uncertain significance
Single submitter
ovarian cancer
- ERBB2 p.Asp845Gly Uncertain significance Single submitter
- ERBB2 p.Asp873Glu Uncertain significance Single submitter
- ERBB2 p.Asp880His Uncertain significance Single submitter
- ERBB2 p.Asp924Tyr Uncertain significance Single submitter
- ERBB2 p.Cys338Tyr Uncertain significance Single submitter
- ERBB2 p.Gln1099Arg Uncertain significance Single submitter
- ERBB2 p.Gln1136His Uncertain significance Single submitter
- ERBB2 p.Gln1225His Uncertain significance Single submitter
- ERBB2 p.Gln398Arg Uncertain significance Single submitter
- ERBB2 p.Gln57Arg Uncertain significance Single submitter
- ERBB2 p.Gln709Glu Uncertain significance Single submitter
- ERBB2 p.Gln78Arg Uncertain significance Single submitter
- ERBB2 p.Gln90Pro Uncertain significance Single submitter
- ERBB2 p.Glu1168Lys Uncertain significance Single submitter
- ERBB2 p.Glu1244Lys Uncertain significance Single submitter
- ERBB2 p.Glu207Gly Uncertain significance Single submitter
- ERBB2 p.Glu286Gln Uncertain significance Single submitter
- ERBB2 p.Glu352Asp Uncertain significance Single submitter
- ERBB2 p.Glu503Asp Uncertain significance Single submitter
- ERBB2 p.Glu620Gly Uncertain significance Single submitter
- ERBB2 p.Glu620Lys Uncertain significance Single submitter
- ERBB2 p.Glu719Val Uncertain significance Single submitter
- ERBB2 p.Glu766Lys Uncertain significance Single submitter
- ERBB2 p.Glu892Lys Uncertain significance Single submitter
- ERBB2 p.Glu936Gly Uncertain significance Single submitter
- ERBB2 p.Gly1029Ala Uncertain significance Single submitter
- ERBB2 p.Gly1029Asp Uncertain significance Single submitter
- ERBB2 p.Gly1057Arg Uncertain significance Single submitter
- ERBB2 p.Gly1062Arg Uncertain significance Single submitter
- ERBB2 p.Gly1097Arg Uncertain significance Single submitter
- ERBB2 p.Gly1176Glu Uncertain significance Single submitter
- ERBB2 p.Gly151Val Uncertain significance Single submitter
- ERBB2 p.Gly222Ser Uncertain significance Single submitter
- ERBB2 p.Gly243Ser Uncertain significance Single submitter
- ERBB2 p.Gly292Ser Uncertain significance Single submitter
- ERBB2 p.Gly344Arg Uncertain significance Single submitter
- ERBB2 p.Gly660Asp Uncertain significance Single submitter
- ERBB2 p.Gly776Ala Uncertain significance Single submitter
- ERBB2 p.Gly881Arg Uncertain significance Single submitter
- ERBB2 p.His1045Gln Uncertain significance Single submitter
- ERBB2 p.His1104Arg Uncertain significance Single submitter
- ERBB2 p.His174Arg Uncertain significance Single submitter
- ERBB2 p.His193Gln Uncertain significance Single submitter
- ERBB2 p.His88Gln Uncertain significance Single submitter
- ERBB2 p.Ile101Thr Uncertain significance Single submitter
- ERBB2 p.Ile435Leu Uncertain significance Single submitter
- ERBB2 p.Ile613Val Uncertain significance Single submitter
- ERBB2 p.Ile628Val Uncertain significance Single submitter
- ERBB2 p.Ile661Val Uncertain significance Single submitter
- ERBB2 p.Ile752Met Uncertain significance Single submitter
- ERBB2 p.Ile872Val Uncertain significance Single submitter
- ERBB2 p.Ile961Thr Uncertain significance Single submitter
- ERBB2 p.Ile989Val Uncertain significance Single submitter
- ERBB2 p.Leu1090Val Uncertain significance Single submitter
- ERBB2 p.Leu1173Val Uncertain significance Single submitter
- ERBB2 p.Leu154Phe Uncertain significance Single submitter
- ERBB2 p.Leu485Val Uncertain significance Single submitter
- ERBB2 p.Leu800Phe Uncertain significance Single submitter
- ERBB2 p.Lys170Gln Uncertain significance Single submitter
- ERBB2 p.Lys684Arg Uncertain significance Single submitter
- ERBB2 p.Lys724Asn Uncertain significance Single submitter
- ERBB2 p.Met198Ile Uncertain significance Single submitter
Predictors split 150
The independent predictors disagree with each other — read with care.
- ERBB2 p.Ala1216Asp Benign/Likely benign Multiple submitters
- ERBB2 p.Ala386Asp Benign/Likely benign Multiple submitters
-
ERBB2 p.Arg1048Cys
Uncertain significance
Multiple submitters
glioma susceptibility 1
-
ERBB2 p.Arg203His
Uncertain significance
Multiple submitters
gastric cancer
-
ERBB2 p.Arg217Cys
Uncertain significance
Multiple submitters
gastric cancer
- ERBB2 p.Arg47His Benign Multiple submitters
-
ERBB2 p.Asp1084Tyr
Uncertain significance
Multiple submitters
visceral neuropathy, familial, 2, autosomal recessive
-
ERBB2 p.Gly1155Cys
Uncertain significance
Multiple submitters
ovarian cancer
-
ERBB2 p.Gly152Ala
Uncertain significance
Multiple submitters
glioma susceptibility 1
- ERBB2 p.Leu994Phe Uncertain significance Multiple submitters
-
ERBB2 p.Lys591Met
Uncertain significance
Multiple submitters
lung cancer
- ERBB2 p.Pro1207Leu Uncertain significance Multiple submitters
-
ERBB2 p.Pro489Leu
Uncertain significance
Multiple submitters
glioma susceptibility 1
-
ERBB2 p.Pro95Leu
Uncertain significance
Multiple submitters
gastric cancer
- ERBB2 p.Ser202Phe Uncertain significance Multiple submitters
- ERBB2 p.Ser380Gly Uncertain significance Multiple submitters
-
ERBB2 p.Thr245Met
Uncertain significance
Multiple submitters
glioma susceptibility 1
- ERBB2 p.Thr290Ala Uncertain significance Multiple submitters
-
ERBB2 p.Val424Ile
Uncertain significance
Multiple submitters
lung cancer
- ERBB2 p.Ala293Ser Uncertain significance Single submitter
- ERBB2 p.Ala293Thr Uncertain significance Single submitter
- ERBB2 p.Ala355Val Uncertain significance Single submitter
- ERBB2 p.Ala414Val Uncertain significance Single submitter
- ERBB2 p.Ala492Pro Uncertain significance Single submitter
- ERBB2 p.Ala497Thr Uncertain significance Single submitter
- ERBB2 p.Ala516Thr Uncertain significance Single submitter
- ERBB2 p.Ala516Val Uncertain significance Single submitter
- ERBB2 p.Ala69Gly Uncertain significance Single submitter
- ERBB2 p.Ala87Thr Uncertain significance Single submitter
- ERBB2 p.Arg1006Cys Uncertain significance Single submitter
- ERBB2 p.Arg100Gln Uncertain significance Single submitter
- ERBB2 p.Arg100Trp Uncertain significance Single submitter
- ERBB2 p.Arg1111Trp Uncertain significance Single submitter
-
ERBB2 p.Arg1146Trp
Conflicting
Single submitter
visceral neuropathy, familial, 2, autosomal recessive
- ERBB2 p.Arg1230Trp Uncertain significance Single submitter
- ERBB2 p.Arg157Trp Uncertain significance Single submitter
- ERBB2 p.Arg190Pro Uncertain significance Single submitter
- ERBB2 p.Arg190Trp Uncertain significance Single submitter
- ERBB2 p.Arg203Cys Uncertain significance Single submitter
- ERBB2 p.Arg203Pro Uncertain significance Single submitter
- ERBB2 p.Arg226His Uncertain significance Single submitter
- ERBB2 p.Arg288Gln Uncertain significance Single submitter
- ERBB2 p.Arg330Gln Uncertain significance Single submitter
- ERBB2 p.Arg432Gln Uncertain significance Single submitter
-
ERBB2 p.Arg432Trp
Conflicting
Single submitter
visceral neuropathy, familial, 2, autosomal recessive
- ERBB2 p.Arg456Cys Uncertain significance Single submitter
- ERBB2 p.Arg456His Uncertain significance Single submitter
- ERBB2 p.Arg487Trp Uncertain significance Single submitter
- ERBB2 p.Arg499Gln Uncertain significance Single submitter
- ERBB2 p.Arg499Trp Uncertain significance Single submitter
- ERBB2 p.Arg517Pro Uncertain significance Single submitter
- ERBB2 p.Arg536Gln Uncertain significance Single submitter
- ERBB2 p.Arg683Gln Uncertain significance Single submitter
- ERBB2 p.Arg840Gln Uncertain significance Single submitter
- ERBB2 p.Arg929Gln Likely benign Single submitter
- ERBB2 p.Arg978Cys Uncertain significance Single submitter
- ERBB2 p.Arg978His Uncertain significance Single submitter
- ERBB2 p.Asn124Tyr Uncertain significance Single submitter
- ERBB2 p.Asn259Ser Uncertain significance Single submitter
- ERBB2 p.Asn68Asp Uncertain significance Single submitter
- ERBB2 p.Asn68Ser Uncertain significance Single submitter
- ERBB2 p.Asp1011Asn Uncertain significance Single submitter
- ERBB2 p.Asp1012Asn Uncertain significance Single submitter
- ERBB2 p.Asp1084Asn Uncertain significance Single submitter
- ERBB2 p.Asp44Val Uncertain significance Single submitter
- ERBB2 p.Asp808Glu Uncertain significance Single submitter
- ERBB2 p.Gln429His Uncertain significance Single submitter
- ERBB2 p.Gln533Lys Uncertain significance Single submitter
-
ERBB2 p.Gln820Glu
Uncertain significance
Single submitter
ovarian cancer
- ERBB2 p.Gln90Lys Uncertain significance Single submitter
- ERBB2 p.Glu1010Gly Uncertain significance Single submitter
- ERBB2 p.Glu1064Lys Uncertain significance Single submitter
- ERBB2 p.Glu1079Lys Uncertain significance Single submitter
- ERBB2 p.Glu40Lys Uncertain significance Single submitter
- ERBB2 p.Glu503Gly Uncertain significance Single submitter
- ERBB2 p.Glu503Lys Uncertain significance Single submitter
- ERBB2 p.Glu645Lys Uncertain significance Single submitter
- ERBB2 p.Gly201Val Uncertain significance Single submitter
- ERBB2 p.Gly206Ala Uncertain significance Single submitter
- ERBB2 p.Gly366Arg Uncertain significance Single submitter
- ERBB2 p.Gly462Asp Uncertain significance Single submitter
- ERBB2 p.Gly508Ala Uncertain significance Single submitter
- ERBB2 p.Gly508Asp Uncertain significance Single submitter
- ERBB2 p.Gly603Ser Uncertain significance Single submitter
- ERBB2 p.His257Tyr Uncertain significance Single submitter
- ERBB2 p.His495Pro Uncertain significance Single submitter
- ERBB2 p.His589Asp Uncertain significance Single submitter
-
ERBB2 p.His632Tyr
Uncertain significance
Single submitter
ovarian cancer
- ERBB2 p.Leu15Phe Likely benign Single submitter
- ERBB2 p.Leu16Phe Uncertain significance Single submitter
- ERBB2 p.Leu215Pro Uncertain significance Single submitter
- ERBB2 p.Leu256Phe Uncertain significance Single submitter
- ERBB2 p.Leu3Val Uncertain significance Single submitter
- ERBB2 p.Leu403Met Uncertain significance Single submitter
- ERBB2 p.Leu428Val Uncertain significance Single submitter
- ERBB2 p.Leu474Val Uncertain significance Single submitter
- ERBB2 p.Leu561Phe Uncertain significance Single submitter
- ERBB2 p.Leu65Met Uncertain significance Single submitter
- ERBB2 p.Leu696Met Uncertain significance Single submitter
- ERBB2 p.Lys615Arg Uncertain significance Single submitter
- ERBB2 p.Lys831Arg Uncertain significance Single submitter
- ERBB2 p.Met31Ile Likely benign Single submitter
- ERBB2 p.Pro1143Thr Uncertain significance Single submitter
- ERBB2 p.Pro1199Thr Uncertain significance Single submitter
- ERBB2 p.Pro1209Arg Uncertain significance Single submitter
- ERBB2 p.Pro1241Thr Uncertain significance Single submitter
- ERBB2 p.Pro194Ser Uncertain significance Single submitter
- ERBB2 p.Pro197Leu Uncertain significance Single submitter
- ERBB2 p.Pro230Ser Uncertain significance Single submitter
- ERBB2 p.Pro378Leu Uncertain significance Single submitter
- ERBB2 p.Pro391Leu Uncertain significance Single submitter
- ERBB2 p.Pro394Leu Uncertain significance Single submitter
- ERBB2 p.Pro481Leu Uncertain significance Single submitter
- ERBB2 p.Pro523Ser Uncertain significance Single submitter
- ERBB2 p.Pro562Leu Uncertain significance Single submitter
- ERBB2 p.Pro579Leu Uncertain significance Single submitter
- ERBB2 p.Pro625Leu Uncertain significance Single submitter
- ERBB2 p.Pro650Leu Uncertain significance Single submitter
- ERBB2 p.Pro945Ala Uncertain significance Single submitter
- ERBB2 p.Pro945His Uncertain significance Single submitter
- ERBB2 p.Pro999Leu Uncertain significance Single submitter
-
ERBB2 p.Ser1007Thr
Uncertain significance
Single submitter
ovarian cancer
-
ERBB2 p.Ser1078Phe
Uncertain significance
Single submitter
lung cancer
- ERBB2 p.Ser1174Cys Uncertain significance Single submitter
- ERBB2 p.Ser202Tyr Uncertain significance Single submitter
- ERBB2 p.Ser22Asn Uncertain significance Single submitter
- ERBB2 p.Ser38Gly Uncertain significance Single submitter
- ERBB2 p.Ser423Gly Uncertain significance Single submitter
- ERBB2 p.Ser609Phe Uncertain significance Single submitter
- ERBB2 p.Thr1132Ile Uncertain significance Single submitter
- ERBB2 p.Thr1236Ile Uncertain significance Single submitter
- ERBB2 p.Thr1242Met Uncertain significance Single submitter
- ERBB2 p.Thr166Met Uncertain significance Single submitter
-
ERBB2 p.Thr216Met
Uncertain significance
Single submitter
ovarian cancer
- ERBB2 p.Thr27Pro Uncertain significance Single submitter
- ERBB2 p.Thr472Ile Uncertain significance Single submitter
- ERBB2 p.Thr479Met Uncertain significance Single submitter
- ERBB2 p.Thr496Ile Uncertain significance Single submitter
- ERBB2 p.Tyr411Asp Uncertain significance Single submitter
- ERBB2 p.Tyr554Asn Uncertain significance Single submitter
- ERBB2 p.Val116Met Uncertain significance Single submitter
- ERBB2 p.Val1253Met Uncertain significance Single submitter
- ERBB2 p.Val153Leu Uncertain significance Single submitter
- ERBB2 p.Val314Ile Uncertain significance Single submitter
-
ERBB2 p.Val399Met
Uncertain significance
Single submitter
ovarian cancer
- ERBB2 p.Val477Met Uncertain significance Single submitter
- ERBB2 p.Val541Met Uncertain significance Single submitter
- ERBB2 p.Val664Phe Uncertain significance Single submitter
- ERBB2 p.Val777Leu Uncertain significance Single submitter
- ERBB2 p.Val84Met Uncertain significance Single submitter
All ERBB2 variants
Pathogenic 15
- p.Gly778_Pro780dup Single submitter non-small cell lung carcinoma
- p.Ser310Tyr Single submitter
- p.Ala710Val No assertion criteria visceral neuropathy, familial, 2, autosomal recessive
- p.Asn857Ser No assertion criteria ovarian neoplasm ⚠
- p.Glu914Lys No assertion criteria glioma susceptibility 1
- p.Gly309Arg No assertion criteria urinary bladder cancer
- p.Gly309Glu No assertion criteria urinary bladder cancer
- p.Gly537fs No assertion criteria colorectal cancer
- p.Gly776Ser No assertion criteria gastric cancer ⚠
- p.Leu869Arg No assertion criteria lung adenocarcinoma
- p.Pro1162fs No assertion criteria colorectal cancer
- p.Ser653Phe No assertion criteria urinary bladder cancer ⚠
- p.Val697Met No assertion criteria urinary bladder cancer
- p.Val777_Ser779dup No assertion criteria lung adenocarcinoma
- p.Val839Met No assertion criteria urinary bladder cancer ⚠
Pathogenic/Likely pathogenic 1
- p.Leu755Pro No assertion criteria lung adenocarcinoma
Likely pathogenic 4
- p.Ala775_Gly776insSerValMetAla Single submitter non-small cell lung carcinoma
- p.Gly776delinsLeuCys Single submitter non-small cell lung carcinoma
- p.Met774fs Single submitter non-small cell lung carcinoma
- p.Tyr772_Ala775dup Single submitter non-small cell lung carcinoma
Conflicting classifications of pathogenicity 9
- c.1513+17A>G Single submitter gastric cancer
- c.1738-5C>G Single submitter
- c.760-5C>T Single submitter
- p.Arg1146Trp Single submitter visceral neuropathy, familial, 2, autosomal recessive ⚠
- p.Arg432Trp Single submitter visceral neuropathy, familial, 2, autosomal recessive ⚠
- p.Gln1225_Asp1226del Single submitter visceral neuropathy, familial, 2, autosomal recessive
- p.Gln393= Single submitter ovarian cancer
- p.Leu1157Arg Single submitter ⚠
- p.Val1191= Single submitter lung cancer
Benign 36
- c.2650-5C>G Multiple submitters
- c.901+7G>T Multiple submitters
- p.Ala115= Multiple submitters
- p.Arg47His Multiple submitters ⚠
- p.Asn176= Multiple submitters
- p.Ile654Val Multiple submitters
- p.Ile655Val Multiple submitters
- p.Leu33= Multiple submitters
- p.Pro1135Ser Multiple submitters
- p.Pro1170Ala Multiple submitters
- p.Pro523= Multiple submitters
- p.Ser442= Multiple submitters
- p.Ser457= Multiple submitters
- p.Thr127= Multiple submitters
- p.Trp452Cys Multiple submitters
- c.1021+19C>T Single submitter
- c.1149-6dup Single submitter
- c.1738-3del Single submitter
- c.1738-3dup Single submitter
- c.2086-11C>G Single submitter
- c.2725+15dup Single submitter
- c.3159+13G>A Single submitter
- c.439+16A>G Single submitter
- c.73+17del Single submitter
- p.Ala1036= Single submitter
- p.Ala644= Single submitter
- p.Arg1161Gln Single submitter
- p.Leu1024= Single submitter
- p.Lys716= Single submitter
- p.Phe371= Single submitter
- p.Pro1026= Single submitter
- p.Pro17= Single submitter
- p.Pro489= Single submitter
- p.Ser1235= Single submitter
- p.Thr472= Single submitter
- p.Thr793= Single submitter
Benign/Likely benign 5
- p.Ala1216Asp Multiple submitters ⚠
- p.Ala386Asp Multiple submitters ⚠
- p.Arg143Gln Multiple submitters
- p.Glu930Asp Multiple submitters myelodysplastic syndrome
- p.Gly815Arg Multiple submitters
Likely benign 318
Showing the top 300 by review status; the full set is in the sitemap.
- c.1947-8G>A Multiple submitters
- p.Ala847= Multiple submitters
- p.Arg896= Multiple submitters
- p.Glu79Ala Multiple submitters
- p.Ile86= Multiple submitters
- p.Pro1194= Multiple submitters
- p.Pro122= Multiple submitters
- p.Pro643= Multiple submitters
- p.Ser1083= Multiple submitters
- p.Ser1151= Multiple submitters
- c.1021+15C>T Single submitter
- c.1021+9del Single submitter
- c.1148+8_1148+11dup Single submitter
- c.1148+9G>A Single submitter
- c.1149-14C>G Single submitter
- c.1149-4C>T Single submitter
- c.1149-8C>G Single submitter
- c.1222+19T>A Single submitter
- c.1222+20C>T Single submitter
- c.1223-13C>T Single submitter
- c.1223-14C>A Single submitter
- c.1223-8G>A Single submitter
- c.1313+13A>C Single submitter
- c.1313+17A>C Single submitter
- c.1313+8C>T Single submitter
- c.1313+9T>A Single submitter
- c.1314-13C>T Single submitter
- c.1314-15A>C Single submitter
- c.1314-16del Single submitter
- c.1314-19G>A Single submitter
- c.1513+13G>A Single submitter
- c.1513+18G>C Single submitter
- c.1513+18G>T Single submitter
- c.1514-11C>G Single submitter
- c.1646+10G>A Single submitter
- c.1646+11C>T Single submitter
- c.1646+16_1646+18del Single submitter
- c.1646+19_1646+20del Single submitter
- c.1647-19C>T Single submitter
- c.1647-5C>T Single submitter
- c.1737+12dup Single submitter
- c.1737+13C>T Single submitter
- c.1737+14G>A Single submitter
- c.1737+15G>A Single submitter
- c.1737+8G>C Single submitter
- c.1738-10C>T Single submitter
- c.1738-4C>A Single submitter
- c.1738-4C>G Single submitter
- c.1738-4C>T Single submitter
- c.1738-5C>A Single submitter
- c.1738-5C>T Single submitter
- c.1738-7C>A Single submitter
- c.1738-9C>T Single submitter
- c.1898+10A>G Single submitter
- c.1898+11C>T Single submitter
- c.1899-10dup Single submitter
- c.1899-9C>T Single submitter
- c.1946+12C>T Single submitter
- c.1947-14G>T Single submitter
- c.1947-7C>T Single submitter
- c.1947-9C>T Single submitter
- c.2085+7del Single submitter
- c.2085+8G>A Single submitter
- c.2085+8G>C Single submitter
- c.2085+9G>A Single submitter
- c.2086-18A>G Single submitter
- c.2086-6C>A Single submitter
- c.2208+19G>A Single submitter
- c.2209-12C>T Single submitter
- c.2209-6G>A Single submitter
- c.2209-9del Single submitter
- c.225+10G>A Single submitter
- c.225+14G>C Single submitter
- c.225+9C>T Single submitter
- c.226-11C>T Single submitter
- c.226-5C>A Single submitter
- c.226-5C>T Single submitter
- c.226-7C>T Single submitter
- c.2307+16C>T Single submitter
- c.2307+7C>T Single submitter
- c.2307+9C>T Single submitter
- c.2308-10T>C Single submitter
- c.2308-14A>G Single submitter
- c.2308-16G>A Single submitter
- c.2493+15T>C Single submitter
- c.2493+19T>C Single submitter
- c.2494-15T>C Single submitter
- c.2494-6T>C Single submitter
- c.2649+13A>C Single submitter
- c.2650-10G>A Single submitter
- c.2650-15C>G Single submitter
- c.2650-9C>T Single submitter
- c.2725+9T>C Single submitter
- c.2726-11C>T Single submitter
- c.2872+16G>C Single submitter
- c.2873-15T>A Single submitter
- c.2873-17C>A Single submitter
- c.2873-5C>T Single submitter
- c.2970+18C>T Single submitter
- c.2971-10del Single submitter
- c.2971-17C>T Single submitter
- c.2971-8C>T Single submitter
- c.3159+12C>G Single submitter
- c.3159+12C>T Single submitter
- c.3159+7G>C Single submitter
- c.3160-15_3160-14del Single submitter
- c.3160-15C>T Single submitter
- c.3160-4C>T Single submitter
- c.3160-8G>A Single submitter
- c.3412+7A>T Single submitter
- c.3413-18C>T Single submitter
- c.439+13G>A Single submitter
- c.440-5C>T Single submitter
- c.574+14C>A Single submitter
- c.574+15T>A Single submitter
- c.575-5C>G Single submitter
- c.643+7C>A Single submitter
- c.644-9G>A Single submitter
- c.73+9G>A Single submitter
- c.74-12C>G Single submitter
- c.74-12C>T Single submitter
- c.74-16T>C Single submitter
- c.74-5G>C Single submitter
- c.74-5G>T Single submitter
- c.759+13G>T Single submitter
- c.760-10G>T Single submitter
- c.760-13C>T Single submitter
- c.760-9dup Single submitter
- c.901+10A>G Single submitter
- c.901+16A>T Single submitter
- c.902-12T>C Single submitter
- c.902-17G>A Single submitter
- c.902-6C>T Single submitter
- c.902-7T>C Single submitter
- p.Ala1039Thr Single submitter
- p.Ala1186= Single submitter
- p.Ala1190= Single submitter
- p.Ala1204= Single submitter
- p.Ala1216= Single submitter
- p.Ala132= Single submitter
- p.Ala21= Single submitter
- p.Ala225= Single submitter
- p.Ala242= Single submitter
- p.Ala270Ser Single submitter
- p.Ala298= Single submitter
- p.Ala355= Single submitter
- p.Ala37= Single submitter
- p.Ala414= Single submitter
- p.Ala492= Single submitter
- p.Ala5= Single submitter
- p.Ala710= Single submitter
- p.Ala890= Single submitter
- p.Ala997= Single submitter
- p.Arg1153= Single submitter
- p.Arg288= Single submitter
- p.Arg330= Single submitter
- p.Arg351= Single submitter
- p.Arg354= Single submitter
- p.Arg599= Single submitter
- p.Arg814= Single submitter
- p.Arg816= Single submitter
- p.Arg929Gln Single submitter ⚠
- p.Asn1141= Single submitter
- p.Asn1178= Single submitter
- p.Asn158= Single submitter
- p.Asn259= Single submitter
- p.Asn571= Single submitter
- p.Asn764= Single submitter
- p.Asn824= Single submitter
- p.Asn850= Single submitter
- p.Asn991= Single submitter
- p.Asp1011= Single submitter
- p.Asp1012= Single submitter
- p.Asp1058= Single submitter
- p.Asp1183= Single submitter
- p.Asp1252= Single submitter
- p.Asp30= Single submitter
- p.Asp307= Single submitter
- p.Asp384= Single submitter
- p.Asp502= Single submitter
- p.Asp582= Single submitter
- p.Asp636= Single submitter
- p.Asp873= Single submitter
- p.Cys235= Single submitter
- p.Cys26= Single submitter
- p.Cys264= Single submitter
- p.Cys515= Single submitter
- p.Cys540= Single submitter
- p.Cys596= Single submitter
- p.Gln1027= Single submitter
- p.Gln239= Single submitter
- p.Gln527= Single submitter
- p.Gln624= Single submitter
- p.Glu1067= Single submitter
- p.Glu1247= Single submitter
- p.Glu405= Single submitter
- p.Glu503= Single submitter
- p.Glu543= Single submitter
- p.Glu553= Single submitter
- p.Glu566= Single submitter
- p.Glu876= Single submitter
- p.Gly1038= Single submitter
- p.Gly104= Single submitter
- p.Gly1055= Single submitter
- p.Gly1056= Single submitter
- p.Gly152= Single submitter
- p.Gly246= Single submitter
- p.Gly292= Single submitter
- p.Gly439= Single submitter
- p.Gly449= Single submitter
- p.Gly506= Single submitter
- p.Gly621= Single submitter
- p.Gly668= Single submitter
- p.Gly909= Single submitter
- p.His174= Single submitter
- p.His559= Single submitter
- p.His858= Single submitter
- p.Ile361= Single submitter
- p.Ile989= Single submitter
- p.Leu1090= Single submitter
- p.Leu1120= Single submitter
- p.Leu114= Single submitter
- p.Leu1167= Single submitter
- p.Leu1197= Single submitter
- p.Leu12= Single submitter
- p.Leu13= Single submitter
- p.Leu145Phe Single submitter
- p.Leu15Phe Single submitter ⚠
- p.Leu215= Single submitter
- p.Leu256= Single submitter
- p.Leu313= Single submitter
- p.Leu35= Single submitter
- p.Leu392= Single submitter
- p.Leu403= Single submitter
- p.Leu445= Single submitter
- p.Leu461= Single submitter
- p.Leu550= Single submitter
- p.Leu561= Single submitter
- p.Leu667= Single submitter
- p.Leu715= Single submitter
- p.Leu720= Single submitter
- p.Leu800= Single submitter
- p.Leu817= Single submitter
- p.Leu841= Single submitter
- p.Leu846= Single submitter
- p.Leu869= Single submitter
- p.Leu870= Single submitter
- p.Leu915= Single submitter
- p.Leu96= Single submitter
- p.Leu972= Single submitter
- p.Lys248= Single submitter
- p.Lys333= Single submitter
- p.Lys369= Single submitter
- p.Lys605= Single submitter
- p.Lys724= Single submitter
- p.Met31Ile Single submitter ⚠
- p.Phe1217= Single submitter
- p.Phe291= Single submitter
- p.Phe476= Single submitter
- p.Phe486= Single submitter
- p.Phe864= Single submitter
- p.Pro1037= Single submitter
- p.Pro1121= Single submitter
- p.Pro1147= Single submitter
- p.Pro1210= Single submitter
- p.Pro134= Single submitter
- p.Pro18= Single submitter
- p.Pro197= Single submitter
- p.Pro285= Single submitter
- p.Pro378= Single submitter
- p.Pro39= Single submitter
- p.Pro416= Single submitter
- p.Pro562= Single submitter
- p.Pro594= Single submitter
- p.Pro625= Single submitter
- p.Pro761= Single submitter
- p.Pro932= Single submitter
- p.Pro942= Single submitter
- p.Pro945= Single submitter
- p.Pro999= Single submitter
- p.Ser1002= Single submitter
- p.Ser1078= Single submitter
- p.Ser1134= Single submitter
- p.Ser373= Single submitter
- p.Ser423= Single submitter
- p.Ser463= Single submitter
- p.Ser602= Single submitter
- p.Ser703= Single submitter
- p.Ser760= Single submitter
- p.Ser977= Single submitter
- p.Thr1052= Single submitter
- p.Thr1132= Single submitter
- p.Thr1242= Single submitter
- p.Thr166= Single submitter
- p.Thr216= Single submitter
- p.Thr23= Single submitter
- p.Thr245= Single submitter
- p.Thr27= Single submitter
- p.Thr290= Single submitter
- p.Thr575= Single submitter
Uncertain significance 384
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala598Asp Multiple submitters glioma susceptibility 1 ⚠
- p.Ala644Thr Multiple submitters ⚠
- p.Arg1048Cys Multiple submitters glioma susceptibility 1 ⚠
- p.Arg188Cys Multiple submitters lung cancer ⚠
- p.Arg188His Multiple submitters ⚠
- p.Arg190Gln Multiple submitters lung cancer ⚠
- p.Arg203His Multiple submitters gastric cancer ⚠
- p.Arg217Cys Multiple submitters gastric cancer ⚠
- p.Arg517Gln Multiple submitters ovarian cancer ⚠
- p.Arg683Pro Multiple submitters ⚠
- p.Arg756Ser Multiple submitters colorectal cancer ⚠
- p.Asp1084Tyr Multiple submitters visceral neuropathy, familial, 2, autosomal recessive ⚠
- p.Gln51Arg Multiple submitters ⚠
- p.Gly1015Glu Multiple submitters glioma susceptibility 1 ⚠
- p.Gly1056Ser Multiple submitters glioma susceptibility 1 ⚠
- p.Gly1155Cys Multiple submitters ovarian cancer ⚠
- p.Gly152Ala Multiple submitters glioma susceptibility 1 ⚠
- p.His470Arg Multiple submitters gastric cancer ⚠
- p.His519Arg Multiple submitters ovarian cancer ⚠
- p.Leu1061Pro Multiple submitters glioma susceptibility 1 ⚠
- p.Leu994Phe Multiple submitters ⚠
- p.Lys1096Asn Multiple submitters lung cancer ⚠
- p.Lys1182Gln Multiple submitters ⚠
- p.Lys591Met Multiple submitters lung cancer ⚠
- p.Met198Thr Multiple submitters ⚠
- p.Met31Val Multiple submitters ⚠
- p.Pro1037Leu Multiple submitters ovarian cancer ⚠
- p.Pro1143Leu Multiple submitters ⚠
- p.Pro1207Leu Multiple submitters ⚠
- p.Pro128Arg Multiple submitters ⚠
- p.Pro489Leu Multiple submitters glioma susceptibility 1 ⚠
- p.Pro95Leu Multiple submitters gastric cancer ⚠
- p.Ser1050Leu Multiple submitters ⚠
- p.Ser202Phe Multiple submitters ⚠
- p.Ser380Gly Multiple submitters ⚠
- p.Thr1103Ile Multiple submitters ⚠
- p.Thr1166Ala Multiple submitters ⚠
- p.Thr245Met Multiple submitters glioma susceptibility 1 ⚠
- p.Thr290Ala Multiple submitters ⚠
- p.Thr67Ala Multiple submitters gastric cancer ⚠
- p.Val1128Ile Multiple submitters ⚠
- p.Val25Ala Multiple submitters gastric cancer ⚠
- p.Val424Ile Multiple submitters lung cancer ⚠
- c.1021+5C>G Single submitter
- c.1314-3T>C Single submitter ovarian cancer
- c.1513+3A>C Single submitter
- c.2085+7C>T Single submitter ovarian cancer
- c.225+3G>A Single submitter
- c.2493+5G>A Single submitter
- c.2493+6C>T Single submitter
- c.2494-3C>T Single submitter hereditary breast carcinoma
- c.2726del Single submitter ovarian cancer
- c.2872+4C>T Single submitter
- c.2970+5T>C Single submitter
- c.2970+6G>T Single submitter
- c.3159+1G>C Single submitter
- c.3405_3412+42delinsAG Single submitter
- c.439+2T>C Single submitter
- c.439+4G>A Single submitter
- c.440-10C>T Single submitter
- c.440-12C>T Single submitter
- c.574+1G>C Single submitter
- c.73+3G>A Single submitter
- p.Ala1020Ser Single submitter ⚠
- p.Ala1036Val Single submitter ⚠
- p.Ala1081Ser Single submitter ⚠
- p.Ala115Thr Single submitter ⚠
- p.Ala1163Thr Single submitter ⚠
- p.Ala1165Thr Single submitter ⚠
- p.Ala1186Thr Single submitter ⚠
- p.Ala1204Gly Single submitter ⚠
- p.Ala1232fs Single submitter Neuroepithelial tumor, PATZ1 fusion-positive
- p.Ala14Val Single submitter ⚠
- p.Ala191= Single submitter
- p.Ala20Val Single submitter ⚠
- p.Ala21Gly Single submitter ⚠
- p.Ala293Ser Single submitter ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala365Thr Single submitter ⚠
- p.Ala375Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala440Thr Single submitter ⚠
- p.Ala440Val Single submitter ⚠
- p.Ala466Val Single submitter ⚠
- p.Ala492Pro Single submitter ⚠
- p.Ala497Thr Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Ala516Thr Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Ala586Val Single submitter ⚠
- p.Ala622Thr Single submitter ⚠
- p.Ala648Val Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala69Gly Single submitter ⚠
- p.Ala848Thr Single submitter ⚠
- p.Ala87Thr Single submitter ⚠
- p.Ala997Ser Single submitter ⚠
- p.Arg1006Cys Single submitter ⚠
- p.Arg100Gln Single submitter ⚠
- p.Arg100Trp Single submitter ⚠
- p.Arg103Ter Single submitter Inborn genetic diseases
- p.Arg1048His Single submitter ⚠
- p.Arg1053Gly Single submitter ⚠
- p.Arg1072Thr Single submitter ⚠
- p.Arg1111Gln Single submitter ⚠
- p.Arg1111Trp Single submitter ⚠
- p.Arg1146Gln Single submitter ⚠
- p.Arg1153Gln Single submitter ⚠
- p.Arg1161Ter Single submitter
- p.Arg1230Gln Single submitter ⚠
- p.Arg1230Leu Single submitter ⚠
- p.Arg1230Pro Single submitter ⚠
- p.Arg1230Trp Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg190Pro Single submitter ⚠
- p.Arg190Trp Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg203Pro Single submitter ⚠
- p.Arg217His Single submitter ⚠
- p.Arg226His Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg34Trp Single submitter ⚠
- p.Arg351Ter Single submitter
- p.Arg432Gln Single submitter ⚠
- p.Arg434Ter Single submitter
- p.Arg456Cys Single submitter ⚠
- p.Arg456His Single submitter ⚠
- p.Arg487Gln Single submitter ⚠
- p.Arg487Leu Single submitter ⚠
- p.Arg487Trp Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg517Pro Single submitter ⚠
- p.Arg536Gln Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg599His Single submitter ⚠
- p.Arg647Lys Single submitter ⚠
- p.Arg683Gln Single submitter ⚠
- p.Arg811Trp Single submitter ⚠
- p.Arg816Cys Single submitter ⚠
- p.Arg816His Single submitter ⚠
- p.Arg840Gln Single submitter ⚠
- p.Arg896Gly Single submitter ⚠
- p.Arg896His Single submitter ⚠
- p.Arg897Gln Single submitter ⚠
- p.Arg897Trp Single submitter ⚠
- p.Arg970Gln Single submitter ⚠
- p.Arg978Cys Single submitter ⚠
- p.Arg978His Single submitter ⚠
- p.Asn111Ser Single submitter ⚠
- p.Asn1178Ser Single submitter ⚠
- p.Asn124Tyr Single submitter ⚠
- p.Asn176Lys Single submitter ⚠
- p.Asn187Lys Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn471Asp Single submitter ⚠
- p.Asn488Thr Single submitter ⚠
- p.Asn530Ser Single submitter ⚠
- p.Asn68Asp Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Asp1011Asn Single submitter ⚠
- p.Asp1012Asn Single submitter ⚠
- p.Asp1084Asn Single submitter ⚠
- p.Asp1125Glu Single submitter ⚠
- p.Asp1144His Single submitter ⚠
- p.Asp121Val Single submitter ⚠
- p.Asp1224Glu Single submitter ⚠
- p.Asp1252Asn Single submitter ⚠
- p.Asp44Val Single submitter ⚠
- p.Asp502Glu Single submitter ovarian cancer ⚠
- p.Asp769= Single submitter
- p.Asp808Glu Single submitter ⚠
- p.Asp845Gly Single submitter ⚠
- p.Asp863= Single submitter
- p.Asp873Glu Single submitter ⚠
- p.Asp880His Single submitter ⚠
- p.Asp924Tyr Single submitter ⚠
- p.Cys338Tyr Single submitter ⚠
- p.Cys587Ter Single submitter
- p.Gln1099Arg Single submitter ⚠
- p.Gln1136His Single submitter ⚠
- p.Gln1225His Single submitter ⚠
- p.Gln1225Ter Single submitter
- p.Gln398Arg Single submitter ⚠
- p.Gln429His Single submitter ⚠
- p.Gln491Ter Single submitter
- p.Gln533Lys Single submitter ⚠
- p.Gln57Arg Single submitter ⚠
- p.Gln709Glu Single submitter ⚠
- p.Gln75Ter Single submitter
- p.Gln78Arg Single submitter ⚠
- p.Gln820Glu Single submitter ovarian cancer ⚠
- p.Gln90Lys Single submitter ⚠
- p.Gln90Pro Single submitter ⚠
- p.Gln984fs Single submitter
- p.Glu1010Gly Single submitter ⚠
- p.Glu1064Lys Single submitter ⚠
- p.Glu1068Ter Single submitter
- p.Glu1079Lys Single submitter ⚠
- p.Glu1168Lys Single submitter ⚠
- p.Glu1244Lys Single submitter ⚠
- p.Glu1247fs Single submitter
- p.Glu207Gly Single submitter ⚠
- p.Glu286Gln Single submitter ⚠
- p.Glu352Asp Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu503Asp Single submitter ⚠
- p.Glu503Gly Single submitter ⚠
- p.Glu503Lys Single submitter ⚠
- p.Glu620Gly Single submitter ⚠
- p.Glu620Lys Single submitter ⚠
- p.Glu645Lys Single submitter ⚠
- p.Glu719Val Single submitter ⚠
- p.Glu766Lys Single submitter ⚠
- p.Glu892Lys Single submitter ⚠
- p.Glu936Gly Single submitter ⚠
- p.Gly1029Ala Single submitter ⚠
- p.Gly1029Asp Single submitter ⚠
- p.Gly1057Arg Single submitter ⚠
- p.Gly1062Arg Single submitter ⚠
- p.Gly1097Arg Single submitter ⚠
- p.Gly1176Glu Single submitter ⚠
- p.Gly151Val Single submitter ⚠
- p.Gly201Val Single submitter ⚠
- p.Gly206Ala Single submitter ⚠
- p.Gly222Ser Single submitter ⚠
- p.Gly243Ser Single submitter ⚠
- p.Gly292Ser Single submitter ⚠
- p.Gly344Arg Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Gly462Asp Single submitter ⚠
- p.Gly508Ala Single submitter ⚠
- p.Gly508Asp Single submitter ⚠
- p.Gly603Ser Single submitter ⚠
- p.Gly660Asp Single submitter ⚠
- p.Gly776Ala Single submitter ⚠
- p.Gly881Arg Single submitter ⚠
- p.His1045Gln Single submitter ⚠
- p.His1104Arg Single submitter ⚠
- p.His174Arg Single submitter ⚠
- p.His193Gln Single submitter ⚠
- p.His257Tyr Single submitter ⚠
- p.His495Pro Single submitter ⚠
- p.His589Asp Single submitter ⚠
- p.His632Tyr Single submitter ovarian cancer ⚠
- p.His88Gln Single submitter ⚠
- p.Ile101Thr Single submitter ⚠
- p.Ile435Leu Single submitter ⚠
- p.Ile613Val Single submitter ⚠
- p.Ile628Val Single submitter ⚠
- p.Ile661Val Single submitter ⚠
- p.Ile752Met Single submitter ⚠
- p.Ile872Val Single submitter ⚠
- p.Ile946fs Single submitter ovarian cancer
- p.Ile961Thr Single submitter ⚠
- p.Ile989Val Single submitter ⚠
- p.Leu1090Val Single submitter ⚠
- p.Leu1173Val Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu215Pro Single submitter ⚠
- p.Leu256Phe Single submitter ⚠
- p.Leu3Val Single submitter ⚠
- p.Leu403Met Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Leu474Val Single submitter ⚠
- p.Leu485Val Single submitter ⚠
- p.Leu561Phe Single submitter ⚠
- p.Leu65Met Single submitter ⚠
- p.Leu696Met Single submitter ⚠
- p.Leu800Phe Single submitter ⚠
- p.Lys170Gln Single submitter ⚠
- p.Lys615Arg Single submitter ⚠
- p.Lys684Arg Single submitter ⚠
- p.Lys724Asn Single submitter ⚠
- p.Lys831Arg Single submitter ⚠
- p.Met198Ile Single submitter ⚠
- p.Met31Leu Single submitter ⚠
- p.Met611Val Single submitter ⚠
- p.Met827Leu Single submitter ⚠
- p.Phe1237Leu Single submitter ⚠
- p.Phe476Ser Single submitter ⚠
- p.Pro1026His Single submitter ⚠
- p.Pro1077His Single submitter ⚠
- p.Pro1102Leu Single submitter ⚠
- p.Pro1143Thr Single submitter ⚠
- p.Pro1162Ser Single submitter ⚠
- p.Pro1175Ala Single submitter ⚠
- p.Pro1199Thr Single submitter ⚠
- p.Pro1205Ser Single submitter ⚠
- p.Pro1209Arg Single submitter ⚠
- p.Pro122Leu Single submitter ⚠
- p.Pro1241Thr Single submitter ⚠
- p.Pro128Ala Single submitter ⚠
- p.Pro128fs Single submitter
- p.Pro134Ser Single submitter ⚠
- p.Pro194Ser Single submitter ⚠