EHBP1 — 188 ClinVar variants
All ClinVar germline EHBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →
3 Benign · 15 Likely benign · 170 Uncertain significance
Full EHBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 170
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 lean, ClinVar uncertain 117
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHBP1 c.2609-2750G>A Uncertain significance Single submitter
- EHBP1 c.2609-2755A>G Uncertain significance Single submitter
- EHBP1 c.2609-2762G>T Uncertain significance Single submitter
- EHBP1 c.635-674G>A Uncertain significance Single submitter
- EHBP1 c.635-679A>G Uncertain significance Single submitter
- EHBP1 c.635-688G>A Uncertain significance Single submitter
- EHBP1 c.635-718A>T Uncertain significance Single submitter
- EHBP1 p.Ala228Val Uncertain significance Single submitter
- EHBP1 p.Ala569Thr Uncertain significance Single submitter
- EHBP1 p.Ala764Gly Uncertain significance Single submitter
- EHBP1 p.Ala786Glu Uncertain significance Single submitter
- EHBP1 p.Ala798Val Uncertain significance Single submitter
- EHBP1 p.Ala834Val Uncertain significance Single submitter
- EHBP1 p.Ala867Pro Uncertain significance Single submitter
- EHBP1 p.Ala867Thr Uncertain significance Single submitter
- EHBP1 p.Ala867Val Uncertain significance Single submitter
- EHBP1 p.Arg1103Ser Uncertain significance Single submitter
- EHBP1 p.Arg406Gln Uncertain significance Single submitter
- EHBP1 p.Arg426Gly Uncertain significance Single submitter
- EHBP1 p.Arg627Lys Uncertain significance Single submitter
- EHBP1 p.Arg653Thr Uncertain significance Single submitter
- EHBP1 p.Arg67His Uncertain significance Single submitter
- EHBP1 p.Arg758Gly Uncertain significance Single submitter
- EHBP1 p.Arg758Lys Uncertain significance Single submitter
- EHBP1 p.Arg774Gln Uncertain significance Single submitter
- EHBP1 p.Arg795Ser Uncertain significance Single submitter
- EHBP1 p.Arg835His Uncertain significance Single submitter
- EHBP1 p.Arg918Trp Uncertain significance Single submitter
- EHBP1 p.Arg928His Uncertain significance Single submitter
- EHBP1 p.Asn199Asp Uncertain significance Single submitter
- EHBP1 p.Asn199Lys Uncertain significance Single submitter
- EHBP1 p.Asn199Ser Uncertain significance Single submitter
- EHBP1 p.Asn270Ser Uncertain significance Single submitter
- EHBP1 p.Asn815Thr Uncertain significance Single submitter
- EHBP1 p.Asp474Asn Uncertain significance Single submitter
- EHBP1 p.Asp641Val Uncertain significance Single submitter
- EHBP1 p.Asp684Asn Uncertain significance Single submitter
- EHBP1 p.Asp713Ala Uncertain significance Single submitter
- EHBP1 p.Asp736Gly Uncertain significance Single submitter
- EHBP1 p.Asp757Gly Uncertain significance Single submitter
- EHBP1 p.Asp757His Uncertain significance Single submitter
- EHBP1 p.Cys609Tyr Uncertain significance Single submitter
- EHBP1 p.Gln1095Arg Uncertain significance Single submitter
- EHBP1 p.Gln280Leu Uncertain significance Single submitter
- EHBP1 p.Gln280Pro Uncertain significance Single submitter
- EHBP1 p.Gln521Arg Uncertain significance Single submitter
- EHBP1 p.Gln546Glu Uncertain significance Single submitter
- EHBP1 p.Gln951Pro Uncertain significance Single submitter
- EHBP1 p.Glu103Gln Uncertain significance Single submitter
- EHBP1 p.Glu1154Asp Uncertain significance Single submitter
- EHBP1 p.Glu198Asp Uncertain significance Single submitter
- EHBP1 p.Glu420Lys Uncertain significance Single submitter
- EHBP1 p.Glu588Lys Uncertain significance Single submitter
- EHBP1 p.Glu661Lys Uncertain significance Single submitter
- EHBP1 p.Glu791Gly Uncertain significance Single submitter
- EHBP1 p.Glu791Lys Uncertain significance Single submitter
- EHBP1 p.Glu988Ala Uncertain significance Single submitter
- EHBP1 p.Gly626Glu Uncertain significance Single submitter
- EHBP1 p.His1138Asn Uncertain significance Single submitter
- EHBP1 p.His773Arg Uncertain significance Single submitter
- EHBP1 p.Ile636Val Uncertain significance Single submitter
- EHBP1 p.Ile693Val Uncertain significance Single submitter
- EHBP1 p.Ile770Val Uncertain significance Single submitter
- EHBP1 p.Ile965Thr Uncertain significance Single submitter
- EHBP1 p.Leu220Phe Uncertain significance Single submitter
- EHBP1 p.Leu484Ser Uncertain significance Single submitter
- EHBP1 p.Leu702Val Uncertain significance Single submitter
- EHBP1 p.Leu818Gln Uncertain significance Single submitter
- EHBP1 p.Leu917Pro Uncertain significance Single submitter
- EHBP1 p.Lys225Arg Uncertain significance Single submitter
- EHBP1 p.Lys225Thr Uncertain significance Single submitter
- EHBP1 p.Lys419Arg Uncertain significance Single submitter
- EHBP1 p.Lys429Asn Uncertain significance Single submitter
- EHBP1 p.Lys613Glu Uncertain significance Single submitter
- EHBP1 p.Lys670Glu Uncertain significance Single submitter
- EHBP1 p.Lys741Glu Uncertain significance Single submitter
- EHBP1 p.Lys743Asn Uncertain significance Single submitter
- EHBP1 p.Lys804Glu Uncertain significance Single submitter
- EHBP1 p.Lys874Gln Uncertain significance Single submitter
- EHBP1 p.Lys879Asn Uncertain significance Single submitter
- EHBP1 p.Met28Thr Uncertain significance Single submitter
- EHBP1 p.Met28Val Uncertain significance Single submitter
- EHBP1 p.Phe294Leu Uncertain significance Single submitter
- EHBP1 p.Phe996Cys Uncertain significance Single submitter
- EHBP1 p.Pro140Leu Uncertain significance Single submitter
- EHBP1 p.Pro254Ser Uncertain significance Single submitter
- EHBP1 p.Pro336His Uncertain significance Single submitter
- EHBP1 p.Pro565Arg Uncertain significance Single submitter
- EHBP1 p.Pro596Leu Uncertain significance Single submitter
- EHBP1 p.Pro634Arg Uncertain significance Single submitter
- EHBP1 p.Pro812Leu Uncertain significance Single submitter
- EHBP1 p.Pro957Thr Uncertain significance Single submitter
- EHBP1 p.Ser488Ala Uncertain significance Single submitter
- EHBP1 p.Ser542Thr Uncertain significance Single submitter
- EHBP1 p.Ser554Gly Uncertain significance Single submitter
- EHBP1 p.Ser567Asn Uncertain significance Single submitter
- EHBP1 p.Ser642Thr Uncertain significance Single submitter
- EHBP1 p.Ser668Arg Uncertain significance Single submitter
- EHBP1 p.Ser695Arg Uncertain significance Single submitter
- EHBP1 p.Ser734Thr Uncertain significance Single submitter
- EHBP1 p.Ser896Asn Uncertain significance Single submitter
- EHBP1 p.Thr1097Ala Uncertain significance Single submitter
- EHBP1 p.Thr116Ser Uncertain significance Single submitter
- EHBP1 p.Thr32Met Uncertain significance Single submitter
- EHBP1 p.Thr690Ile Uncertain significance Single submitter
- EHBP1 p.Thr969Ser Uncertain significance Single submitter
- EHBP1 p.Thr982Ile Uncertain significance Single submitter
- EHBP1 p.Tyr269Cys Uncertain significance Single submitter
- EHBP1 p.Tyr284Cys Uncertain significance Single submitter
- EHBP1 p.Tyr318Cys Uncertain significance Single submitter
- EHBP1 p.Tyr666His Uncertain significance Single submitter
- EHBP1 p.Val1122Asp Uncertain significance Single submitter
- EHBP1 p.Val146Ile Uncertain significance Single submitter
- EHBP1 p.Val371Gly Uncertain significance Single submitter
- EHBP1 p.Val43Asp Uncertain significance Single submitter
- EHBP1 p.Val581Ile Uncertain significance Single submitter
- EHBP1 p.Val586Phe Uncertain significance Single submitter
Predictors split 53
The independent predictors disagree with each other — read with care.
- EHBP1 p.Ala368Val Uncertain significance Single submitter
- EHBP1 p.Arg1020His Uncertain significance Single submitter
- EHBP1 p.Arg1083Gln Uncertain significance Single submitter
- EHBP1 p.Arg111Lys Uncertain significance Single submitter
- EHBP1 p.Arg361Gln Uncertain significance Single submitter
- EHBP1 p.Arg558Trp Uncertain significance Single submitter
- EHBP1 p.Arg610Cys Uncertain significance Single submitter
- EHBP1 p.Arg611Gly Uncertain significance Single submitter
- EHBP1 p.Asn233Tyr Uncertain significance Single submitter
- EHBP1 p.Asp197Gly Uncertain significance Single submitter
- EHBP1 p.Asp237Gly Uncertain significance Single submitter
- EHBP1 p.Asp248Asn Uncertain significance Single submitter
- EHBP1 p.Asp289Asn Uncertain significance Single submitter
- EHBP1 p.Asp555Val Likely benign Single submitter
- EHBP1 p.Glu1092Asp Uncertain significance Single submitter
- EHBP1 p.Glu1135Asp Uncertain significance Single submitter
- EHBP1 p.Glu97Asp Uncertain significance Single submitter
- EHBP1 p.Gly534Ala Uncertain significance Single submitter
- EHBP1 p.His89Arg Uncertain significance Single submitter
- EHBP1 p.Ile1091Val Uncertain significance Single submitter
- EHBP1 p.Ile479Thr Uncertain significance Single submitter
- EHBP1 p.Ile78Thr Uncertain significance Single submitter
- EHBP1 p.Leu114Val Uncertain significance Single submitter
- EHBP1 p.Leu404Trp Uncertain significance Single submitter
- EHBP1 p.Leu850Phe Uncertain significance Single submitter
- EHBP1 p.Lys1130Asn Uncertain significance Single submitter
- EHBP1 p.Lys33Arg Uncertain significance Single submitter
- EHBP1 p.Met1050Ile Uncertain significance Single submitter
- EHBP1 p.Pro245Thr Uncertain significance Single submitter
- EHBP1 p.Pro282Leu Uncertain significance Single submitter
- EHBP1 p.Pro367Leu Uncertain significance Single submitter
- EHBP1 p.Ser118Thr Uncertain significance Single submitter
- EHBP1 p.Ser147Cys Uncertain significance Single submitter
- EHBP1 p.Ser272Arg Uncertain significance Single submitter
- EHBP1 p.Ser385Cys Uncertain significance Single submitter
- EHBP1 p.Ser391Cys Uncertain significance Single submitter
- EHBP1 p.Ser542Asn Uncertain significance Single submitter
- EHBP1 p.Ser584Arg Uncertain significance Single submitter
- EHBP1 p.Ser621Cys Uncertain significance Single submitter
- EHBP1 p.Ser722Gly Uncertain significance Single submitter
- EHBP1 p.Thr264Arg Uncertain significance Single submitter
- EHBP1 p.Thr616Arg Uncertain significance Single submitter
- EHBP1 p.Thr99Ile Uncertain significance Single submitter
- EHBP1 p.Tyr320Ser Uncertain significance Single submitter
- EHBP1 p.Val145Ile Uncertain significance Single submitter
- EHBP1 p.Val230Met Uncertain significance Single submitter
- EHBP1 p.Val313Met Uncertain significance Single submitter
- EHBP1 p.Val43Ile Uncertain significance Single submitter
- EHBP1 p.Val520Ile Uncertain significance Single submitter
- EHBP1 p.Val533Leu Uncertain significance Single submitter
- EHBP1 p.Val845Gly Uncertain significance Single submitter
-
EHBP1 p.Ser567Cys
Uncertain significance
No assertion criteria
myoepithelial tumor
-
EHBP1 p.Tyr733Cys
Likely benign
No assertion criteria
EHBP1-related disorder
All EHBP1 variants
Benign 3
- c.105-4G>C Single submitter
- p.Glu194= No assertion criteria EHBP1-related disorder
- p.Lys720Gln No assertion criteria EHBP1-related disorder
Likely benign 15
- p.Ala1021= Single submitter
- p.Ala149Thr Single submitter
- p.Ala657= Single submitter
- p.Asn806Ser Single submitter
- p.Asn808Ser Single submitter
- p.Asp195Glu Single submitter
- p.Asp555Val Single submitter ⚠
- p.Gly694Ser Single submitter
- p.His593Arg Single submitter
- p.Ser734Asn Single submitter
- c.2734-4T>C No assertion criteria EHBP1-related disorder
- p.Leu285= No assertion criteria EHBP1-related disorder
- p.Leu917Val No assertion criteria EHBP1-related disorder
- p.Phe189= No assertion criteria EHBP1-related disorder
- p.Tyr733Cys No assertion criteria EHBP1-related disorder ⚠
Uncertain significance 170
- c.1185+30064G>A Multiple submitters prostate cancer, hereditary, 12
- c.2609-2750G>A Single submitter ⚠
- c.2609-2755A>G Single submitter ⚠
- c.2609-2762G>T Single submitter ⚠
- c.635-674G>A Single submitter ⚠
- c.635-679A>G Single submitter ⚠
- c.635-688G>A Single submitter ⚠
- c.635-718A>T Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala569Thr Single submitter ⚠
- p.Ala764Gly Single submitter ⚠
- p.Ala786Glu Single submitter ⚠
- p.Ala798Val Single submitter ⚠
- p.Ala834Val Single submitter ⚠
- p.Ala867Pro Single submitter ⚠
- p.Ala867Thr Single submitter ⚠
- p.Ala867Val Single submitter ⚠
- p.Arg1020His Single submitter ⚠
- p.Arg1083Gln Single submitter ⚠
- p.Arg1103Ser Single submitter ⚠
- p.Arg111Lys Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg426Gly Single submitter ⚠
- p.Arg558Trp Single submitter ⚠
- p.Arg610Cys Single submitter ⚠
- p.Arg611Gly Single submitter ⚠
- p.Arg627Lys Single submitter ⚠
- p.Arg653Thr Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg758Gly Single submitter ⚠
- p.Arg758Lys Single submitter ⚠
- p.Arg774Gln Single submitter ⚠
- p.Arg795Ser Single submitter ⚠
- p.Arg835His Single submitter ⚠
- p.Arg918Trp Single submitter ⚠
- p.Arg928His Single submitter ⚠
- p.Asn199Asp Single submitter ⚠
- p.Asn199Lys Single submitter ⚠
- p.Asn199Ser Single submitter ⚠
- p.Asn233Tyr Single submitter ⚠
- p.Asn270Ser Single submitter ⚠
- p.Asn815Thr Single submitter ⚠
- p.Asp197Gly Single submitter ⚠
- p.Asp237Gly Single submitter ⚠
- p.Asp248Asn Single submitter ⚠
- p.Asp289Asn Single submitter ⚠
- p.Asp474Asn Single submitter ⚠
- p.Asp641Val Single submitter ⚠
- p.Asp684Asn Single submitter ⚠
- p.Asp713Ala Single submitter ⚠
- p.Asp736Gly Single submitter ⚠
- p.Asp757Gly Single submitter ⚠
- p.Asp757His Single submitter ⚠
- p.Cys609Tyr Single submitter ⚠
- p.Gln1095Arg Single submitter ⚠
- p.Gln280Leu Single submitter ⚠
- p.Gln280Pro Single submitter ⚠
- p.Gln521Arg Single submitter ⚠
- p.Gln546Glu Single submitter ⚠
- p.Gln951Pro Single submitter ⚠
- p.Glu103Gln Single submitter ⚠
- p.Glu1092Asp Single submitter ⚠
- p.Glu1135Asp Single submitter ⚠
- p.Glu1154Asp Single submitter ⚠
- p.Glu198Asp Single submitter ⚠
- p.Glu420Lys Single submitter ⚠
- p.Glu588Lys Single submitter ⚠
- p.Glu661Lys Single submitter ⚠
- p.Glu791Gly Single submitter ⚠
- p.Glu791Lys Single submitter ⚠
- p.Glu97Asp Single submitter ⚠
- p.Glu988Ala Single submitter ⚠
- p.Gly534Ala Single submitter ⚠
- p.Gly626Glu Single submitter ⚠
- p.His1138Asn Single submitter ⚠
- p.His773Arg Single submitter ⚠
- p.His89Arg Single submitter ⚠
- p.Ile1091Val Single submitter ⚠
- p.Ile479Thr Single submitter ⚠
- p.Ile636Val Single submitter ⚠
- p.Ile693Val Single submitter ⚠
- p.Ile770Val Single submitter ⚠
- p.Ile78Thr Single submitter ⚠
- p.Ile965Thr Single submitter ⚠
- p.Leu114Val Single submitter ⚠
- p.Leu220Phe Single submitter ⚠
- p.Leu404Trp Single submitter ⚠
- p.Leu484Ser Single submitter ⚠
- p.Leu702Val Single submitter ⚠
- p.Leu818Gln Single submitter ⚠
- p.Leu850Phe Single submitter ⚠
- p.Leu917Pro Single submitter ⚠
- p.Lys1130Asn Single submitter ⚠
- p.Lys225Arg Single submitter ⚠
- p.Lys225Thr Single submitter ⚠
- p.Lys33Arg Single submitter ⚠
- p.Lys419Arg Single submitter ⚠
- p.Lys429Asn Single submitter ⚠
- p.Lys613Glu Single submitter ⚠
- p.Lys670Glu Single submitter ⚠
- p.Lys741Glu Single submitter ⚠
- p.Lys743Asn Single submitter ⚠
- p.Lys804Glu Single submitter ⚠
- p.Lys874Gln Single submitter ⚠
- p.Lys879Asn Single submitter ⚠
- p.Met1050Ile Single submitter ⚠
- p.Met28Thr Single submitter ⚠
- p.Met28Val Single submitter ⚠
- p.Phe294Leu Single submitter ⚠
- p.Phe996Cys Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro245Thr Single submitter ⚠
- p.Pro254Ser Single submitter ⚠
- p.Pro282Leu Single submitter ⚠
- p.Pro336His Single submitter ⚠
- p.Pro367Leu Single submitter ⚠
- p.Pro565Arg Single submitter ⚠
- p.Pro596Leu Single submitter ⚠
- p.Pro634Arg Single submitter ⚠
- p.Pro812Leu Single submitter ⚠
- p.Pro957Thr Single submitter ⚠
- p.Ser118Thr Single submitter ⚠
- p.Ser147Cys Single submitter ⚠
- p.Ser272Arg Single submitter ⚠
- p.Ser385Cys Single submitter ⚠
- p.Ser391Cys Single submitter ⚠
- p.Ser488Ala Single submitter ⚠
- p.Ser542Asn Single submitter ⚠
- p.Ser542Thr Single submitter ⚠
- p.Ser554Gly Single submitter ⚠
- p.Ser567Asn Single submitter ⚠
- p.Ser584Arg Single submitter ⚠
- p.Ser621Cys Single submitter ⚠
- p.Ser642Thr Single submitter ⚠
- p.Ser668Arg Single submitter ⚠
- p.Ser695Arg Single submitter ⚠
- p.Ser722Gly Single submitter ⚠
- p.Ser734Thr Single submitter ⚠
- p.Ser896Asn Single submitter ⚠
- p.Thr1097Ala Single submitter ⚠
- p.Thr116Ser Single submitter ⚠
- p.Thr264Arg Single submitter ⚠
- p.Thr32Met Single submitter ⚠
- p.Thr616Arg Single submitter ⚠
- p.Thr690Ile Single submitter ⚠
- p.Thr969Ser Single submitter ⚠
- p.Thr982Ile Single submitter ⚠
- p.Thr99Ile Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr318Cys Single submitter ⚠
- p.Tyr320Ser Single submitter ⚠
- p.Tyr666His Single submitter ⚠
- p.Val1122Asp Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val146Ile Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val313Met Single submitter ⚠
- p.Val371Gly Single submitter ⚠
- p.Val43Asp Single submitter ⚠
- p.Val43Ile Single submitter ⚠
- p.Val520Ile Single submitter ⚠
- p.Val533Leu Single submitter ⚠
- p.Val581Ile Single submitter ⚠
- p.Val586Phe Single submitter ⚠
- p.Val845Gly Single submitter ⚠
- p.Asp197del No assertion criteria
- p.Ser567Cys No assertion criteria myoepithelial tumor ⚠