ERC2 — 98 ClinVar variants
All ClinVar germline ERC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Likely benign · 97 Uncertain significance
Full ERC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERC2 p.Ala105Ser Uncertain significance Single submitter
- ERC2 p.Ala107Thr Uncertain significance Single submitter
- ERC2 p.Ala251Val Uncertain significance Single submitter
- ERC2 p.Ala333Ser Uncertain significance Single submitter
- ERC2 p.Ala835Thr Uncertain significance Single submitter
- ERC2 p.Ala838Ser Uncertain significance Single submitter
- ERC2 p.Ala97Val Uncertain significance Single submitter
- ERC2 p.Arg203Trp Uncertain significance Single submitter
- ERC2 p.Arg301Gln Uncertain significance Single submitter
- ERC2 p.Arg328Gln Uncertain significance Single submitter
- ERC2 p.Arg363Lys Uncertain significance Single submitter
- ERC2 p.Arg611Lys Uncertain significance Single submitter
- ERC2 p.Arg696Lys Uncertain significance Single submitter
- ERC2 p.Arg892Gln Uncertain significance Single submitter
- ERC2 p.Arg892Trp Uncertain significance Single submitter
- ERC2 p.Arg933Gln Uncertain significance Single submitter
- ERC2 p.Asn103Ser Uncertain significance Single submitter
- ERC2 p.Asn299Ser Uncertain significance Single submitter
- ERC2 p.Asn326Ser Uncertain significance Single submitter
- ERC2 p.Asn53Ser Uncertain significance Single submitter
- ERC2 p.Asn807Thr Uncertain significance Single submitter
- ERC2 p.Asp162His Uncertain significance Single submitter
- ERC2 p.Asp172Glu Uncertain significance Single submitter
- ERC2 p.Asp414Glu Uncertain significance Single submitter
- ERC2 p.Asp559Gly Uncertain significance Single submitter
- ERC2 p.Asp709Asn Uncertain significance Single submitter
- ERC2 p.Asp717Glu Uncertain significance Single submitter
- ERC2 p.Glu285Val Uncertain significance Single submitter
- ERC2 p.Glu442Asp Uncertain significance Single submitter
- ERC2 p.Glu526Lys Uncertain significance Single submitter
- ERC2 p.Glu610Gln Uncertain significance Single submitter
- ERC2 p.Glu621Gln Uncertain significance Single submitter
- ERC2 p.Gly99Val Uncertain significance Single submitter
- ERC2 p.His836Gln Uncertain significance Single submitter
- ERC2 p.Ile422Val Uncertain significance Single submitter
- ERC2 p.Ile705Val Uncertain significance Single submitter
- ERC2 p.Ile842Met Uncertain significance Single submitter
- ERC2 p.Ile842Ser Uncertain significance Single submitter
- ERC2 p.Ile842Thr Uncertain significance Single submitter
- ERC2 p.Ile851Val Uncertain significance Single submitter
- ERC2 p.Leu513Val Uncertain significance Single submitter
- ERC2 p.Leu816Gln Uncertain significance Single submitter
- ERC2 p.Met697Val Uncertain significance Single submitter
- ERC2 p.Met888Val Uncertain significance Single submitter
- ERC2 p.Pro136Leu Uncertain significance Single submitter
- ERC2 p.Pro947Leu Uncertain significance Single submitter
- ERC2 p.Ser617Thr Uncertain significance Single submitter
- ERC2 p.Ser792Gly Uncertain significance Single submitter
- ERC2 p.Ser864Asn Uncertain significance Single submitter
- ERC2 p.Thr118Ile Uncertain significance Single submitter
- ERC2 p.Thr329Met Uncertain significance Single submitter
- ERC2 p.Thr373Ala Uncertain significance Single submitter
- ERC2 p.Thr826Ala Uncertain significance Single submitter
- ERC2 p.Thr826Lys Uncertain significance Single submitter
- ERC2 p.Val114Ile Uncertain significance Single submitter
- ERC2 p.Val70Leu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- ERC2 p.Ala202Val Uncertain significance Single submitter
- ERC2 p.Ala371Pro Uncertain significance Single submitter
- ERC2 p.Ala724Thr Uncertain significance Single submitter
- ERC2 p.Ala913Val Uncertain significance Single submitter
- ERC2 p.Ala957Val Uncertain significance Single submitter
- ERC2 p.Arg20His Uncertain significance Single submitter
- ERC2 p.Arg26His Uncertain significance Single submitter
- ERC2 p.Arg330Trp Uncertain significance Single submitter
- ERC2 p.Arg331Gln Uncertain significance Single submitter
- ERC2 p.Arg599His Uncertain significance Single submitter
- ERC2 p.Arg609Gln Uncertain significance Single submitter
- ERC2 p.Arg609Trp Uncertain significance Single submitter
- ERC2 p.Arg716Cys Uncertain significance Single submitter
- ERC2 p.Arg789Gln Uncertain significance Single submitter
- ERC2 p.Arg88Gln Uncertain significance Single submitter
- ERC2 p.Arg94Cys Uncertain significance Single submitter
- ERC2 p.Asp744Asn Uncertain significance Single submitter
- ERC2 p.Gln210His Uncertain significance Single submitter
- ERC2 p.Gln338Glu Uncertain significance Single submitter
- ERC2 p.Gln441Arg Uncertain significance Single submitter
- ERC2 p.Glu336Asp Uncertain significance Single submitter
- ERC2 p.Glu676Asp Uncertain significance Single submitter
- ERC2 p.Glu718Lys Uncertain significance Single submitter
- ERC2 p.Glu749Lys Uncertain significance Single submitter
- ERC2 p.Glu850Asp Uncertain significance Single submitter
- ERC2 p.Gly35Arg Uncertain significance Single submitter
- ERC2 p.His130Tyr Uncertain significance Single submitter
- ERC2 p.His132Asn Uncertain significance Single submitter
- ERC2 p.His799Pro Uncertain significance Single submitter
- ERC2 p.Ile802Thr Uncertain significance Single submitter
- ERC2 p.Leu115Pro Uncertain significance Single submitter
- ERC2 p.Leu356Ile Uncertain significance Single submitter
- ERC2 p.Leu708Phe Uncertain significance Single submitter
- ERC2 p.Lys769Arg Uncertain significance Single submitter
- ERC2 p.Met332Arg Uncertain significance Single submitter
- ERC2 p.Met530Val Uncertain significance Single submitter
- ERC2 p.Met854Ile Uncertain significance Single submitter
- ERC2 p.Ser4Asn Uncertain significance Single submitter
- ERC2 p.Thr574Met Uncertain significance Single submitter
- ERC2 p.Thr819Ala Uncertain significance Single submitter
- ERC2 p.Thr883Met Uncertain significance Single submitter
All ERC2 variants
Likely benign 1
- p.Arg415= Single submitter
Uncertain significance 97
- p.Ala105Ser Single submitter ⚠
- p.Ala107Thr Single submitter ⚠
- p.Ala202Val Single submitter ⚠
- p.Ala251Val Single submitter ⚠
- p.Ala333Ser Single submitter ⚠
- p.Ala371Pro Single submitter ⚠
- p.Ala724Thr Single submitter ⚠
- p.Ala835Thr Single submitter ⚠
- p.Ala838Ser Single submitter ⚠
- p.Ala913Val Single submitter ⚠
- p.Ala957Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg26His Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg330Trp Single submitter ⚠
- p.Arg331Gln Single submitter ⚠
- p.Arg363Lys Single submitter ⚠
- p.Arg599His Single submitter ⚠
- p.Arg609Gln Single submitter ⚠
- p.Arg609Trp Single submitter ⚠
- p.Arg611Lys Single submitter ⚠
- p.Arg696Lys Single submitter ⚠
- p.Arg716Cys Single submitter ⚠
- p.Arg789Gln Single submitter ⚠
- p.Arg88Gln Single submitter ⚠
- p.Arg892Gln Single submitter ⚠
- p.Arg892Trp Single submitter ⚠
- p.Arg933Gln Single submitter ⚠
- p.Arg94Cys Single submitter ⚠
- p.Asn103Ser Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn326Ser Single submitter ⚠
- p.Asn53Ser Single submitter ⚠
- p.Asn807Thr Single submitter ⚠
- p.Asp162His Single submitter ⚠
- p.Asp172Glu Single submitter ⚠
- p.Asp414Glu Single submitter ⚠
- p.Asp559Gly Single submitter ⚠
- p.Asp709Asn Single submitter ⚠
- p.Asp717Glu Single submitter ⚠
- p.Asp744Asn Single submitter ⚠
- p.Gln210His Single submitter ⚠
- p.Gln338Glu Single submitter ⚠
- p.Gln441Arg Single submitter ⚠
- p.Glu285Val Single submitter ⚠
- p.Glu336Asp Single submitter ⚠
- p.Glu442Asp Single submitter ⚠
- p.Glu526Lys Single submitter ⚠
- p.Glu610Gln Single submitter ⚠
- p.Glu621Gln Single submitter ⚠
- p.Glu676Asp Single submitter ⚠
- p.Glu718Lys Single submitter ⚠
- p.Glu749Lys Single submitter ⚠
- p.Glu850Asp Single submitter ⚠
- p.Gly35Arg Single submitter ⚠
- p.Gly99Val Single submitter ⚠
- p.His130Tyr Single submitter ⚠
- p.His132Asn Single submitter ⚠
- p.His799Pro Single submitter ⚠
- p.His836Gln Single submitter ⚠
- p.Ile422Val Single submitter ⚠
- p.Ile705Val Single submitter ⚠
- p.Ile802Thr Single submitter ⚠
- p.Ile842Met Single submitter ⚠
- p.Ile842Ser Single submitter ⚠
- p.Ile842Thr Single submitter ⚠
- p.Ile851Val Single submitter ⚠
- p.Leu115Pro Single submitter ⚠
- p.Leu356Ile Single submitter ⚠
- p.Leu513Val Single submitter ⚠
- p.Leu708Phe Single submitter ⚠
- p.Leu816Gln Single submitter ⚠
- p.Lys769Arg Single submitter ⚠
- p.Met332Arg Single submitter ⚠
- p.Met530Val Single submitter ⚠
- p.Met697Val Single submitter ⚠
- p.Met854Ile Single submitter ⚠
- p.Met888Val Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro947Leu Single submitter ⚠
- p.Ser4Asn Single submitter ⚠
- p.Ser617Thr Single submitter ⚠
- p.Ser792Gly Single submitter ⚠
- p.Ser864Asn Single submitter ⚠
- p.Thr118Ile Single submitter ⚠
- p.Thr329Met Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr574Met Single submitter ⚠
- p.Thr819Ala Single submitter ⚠
- p.Thr826Ala Single submitter ⚠
- p.Thr826Lys Single submitter ⚠
- p.Thr883Met Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val70Leu Single submitter ⚠