ERC1 — 153 ClinVar variants
All ClinVar germline ERC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 136 flagged for review →
1 Likely pathogenic · 10 Benign · 7 Likely benign · 135 Uncertain significance
Full ERC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 136
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 81
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERC1 p.Ala1058Val Uncertain significance Single submitter
- ERC1 p.Ala260Glu Uncertain significance Single submitter
- ERC1 p.Ala5Ser Uncertain significance Single submitter
- ERC1 p.Ala682Ser Uncertain significance Single submitter
- ERC1 p.Ala861Pro Uncertain significance Single submitter
- ERC1 p.Arg103Gln Uncertain significance Single submitter
- ERC1 p.Arg103Trp Uncertain significance Single submitter
- ERC1 p.Arg1069Pro Uncertain significance Single submitter
- ERC1 p.Arg20Cys Uncertain significance Single submitter
- ERC1 p.Arg20His Uncertain significance Single submitter
- ERC1 p.Arg276Gln Uncertain significance Single submitter
- ERC1 p.Arg29Cys Uncertain significance Single submitter
- ERC1 p.Arg33Cys Uncertain significance Single submitter
- ERC1 p.Arg366Gln Uncertain significance Single submitter
- ERC1 p.Arg430Gln Uncertain significance Single submitter
- ERC1 p.Arg571Gln Uncertain significance Single submitter
- ERC1 p.Arg627Trp Uncertain significance Single submitter
- ERC1 p.Arg636Lys Uncertain significance Single submitter
- ERC1 p.Arg695Gln Uncertain significance Single submitter
- ERC1 p.Arg6His Uncertain significance Single submitter
- ERC1 p.Arg760Gly Uncertain significance Single submitter
- ERC1 p.Arg816Gln Uncertain significance Single submitter
- ERC1 p.Asn820Ser Uncertain significance Single submitter
- ERC1 p.Asn822Ser Uncertain significance Single submitter
- ERC1 p.Asn911His Uncertain significance Single submitter
- ERC1 p.Asp1036Glu Uncertain significance Single submitter
- ERC1 p.Asp1055Asn Uncertain significance Single submitter
- ERC1 p.Asp148Asn Uncertain significance Single submitter
- ERC1 p.Asp653Asn Uncertain significance Single submitter
- ERC1 p.Asp653Glu Uncertain significance Single submitter
- ERC1 p.Asp667Asn Uncertain significance Single submitter
- ERC1 p.Gln470Arg Uncertain significance Single submitter
- ERC1 p.Gln789Glu Uncertain significance Single submitter
- ERC1 p.Gln829Lys Uncertain significance Single submitter
- ERC1 p.Glu708Gln Uncertain significance Single submitter
- ERC1 p.Gly101Asp Uncertain significance Single submitter
- ERC1 p.Gly108Asp Uncertain significance Single submitter
- ERC1 p.Gly666Asp Uncertain significance Single submitter
- ERC1 p.Gly95Glu Uncertain significance Single submitter
- ERC1 p.His1002Gln Uncertain significance Single submitter
- ERC1 p.His1035Tyr Uncertain significance Single submitter
- ERC1 p.His274Tyr Uncertain significance Single submitter
- ERC1 p.His681Arg Uncertain significance Single submitter
- ERC1 p.Ile1027Ser Uncertain significance Single submitter
- ERC1 p.Ile503Thr Uncertain significance Single submitter
- ERC1 p.Ile580Thr Uncertain significance Single submitter
- ERC1 p.Ile629Thr Uncertain significance Single submitter
- ERC1 p.Ile737Val Uncertain significance Single submitter
- ERC1 p.Leu270His Uncertain significance Single submitter
- ERC1 p.Leu288Trp Uncertain significance Single submitter
- ERC1 p.Leu336Pro Uncertain significance Single submitter
- ERC1 p.Leu685Pro Uncertain significance Single submitter
- ERC1 p.Lys658Met Uncertain significance Single submitter
- ERC1 p.Lys718Glu Uncertain significance Single submitter
- ERC1 p.Lys806Arg Uncertain significance Single submitter
- ERC1 p.Lys883Thr Uncertain significance Single submitter
- ERC1 p.Met152Thr Uncertain significance Single submitter
- ERC1 p.Met394Leu Uncertain significance Single submitter
- ERC1 p.Met72Val Uncertain significance Single submitter
- ERC1 p.Met983Thr Uncertain significance Single submitter
- ERC1 p.Phe368Cys Uncertain significance Single submitter
- ERC1 p.Phe368Val Uncertain significance Single submitter
- ERC1 p.Phe992Leu Uncertain significance Single submitter
- ERC1 p.Pro1004Ser Uncertain significance Single submitter
- ERC1 p.Pro1012Arg Uncertain significance Single submitter
- ERC1 p.Pro13Leu Uncertain significance Single submitter
- ERC1 p.Pro22Ser Uncertain significance Single submitter
- ERC1 p.Ser1021Ile Uncertain significance Single submitter
- ERC1 p.Ser318Asn Uncertain significance Single submitter
- ERC1 p.Ser42Leu Uncertain significance Single submitter
- ERC1 p.Ser449Leu Uncertain significance Single submitter
- ERC1 p.Ser595Asn Uncertain significance Single submitter
- ERC1 p.Thr122Ala Uncertain significance Single submitter
- ERC1 p.Thr38Met Uncertain significance Single submitter
- ERC1 p.Thr608Ile Uncertain significance Single submitter
- ERC1 p.Thr611Ile Uncertain significance Single submitter
- ERC1 p.Thr868Ile Uncertain significance Single submitter
- ERC1 p.Val174Ile Uncertain significance Single submitter
- ERC1 p.Val218Leu Uncertain significance Single submitter
- ERC1 p.Val343Ile Uncertain significance Single submitter
- ERC1 p.Val768Met Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
- ERC1 p.Ala199Thr Uncertain significance Single submitter
- ERC1 p.Ala621Thr Uncertain significance Single submitter
- ERC1 p.Ala720Thr Uncertain significance Single submitter
- ERC1 p.Ala814Val Uncertain significance Single submitter
- ERC1 p.Ala940Ser Uncertain significance Single submitter
- ERC1 p.Arg1043Cys Uncertain significance Single submitter
- ERC1 p.Arg1069Trp Uncertain significance Single submitter
- ERC1 p.Arg169Leu Uncertain significance Single submitter
- ERC1 p.Arg396His Uncertain significance Single submitter
- ERC1 p.Arg627Gln Uncertain significance Single submitter
- ERC1 p.Arg631His Uncertain significance Single submitter
- ERC1 p.Arg641Gln Uncertain significance Single submitter
- ERC1 p.Arg695Trp Uncertain significance Single submitter
- ERC1 p.Arg736Gln Uncertain significance Single submitter
- ERC1 p.Arg867Thr Uncertain significance Single submitter
- ERC1 p.Arg963Gln Uncertain significance Single submitter
- ERC1 p.Arg97Cys Uncertain significance Single submitter
- ERC1 p.Asn941Ser Uncertain significance Single submitter
- ERC1 p.Asp121Gly Uncertain significance Single submitter
- ERC1 p.Asp589Glu Uncertain significance Single submitter
- ERC1 p.Gln1073Pro Uncertain significance Single submitter
- ERC1 p.Gln230His Uncertain significance Single submitter
- ERC1 p.Gln298Glu Uncertain significance Single submitter
- ERC1 p.Gln955Leu Uncertain significance Single submitter
- ERC1 p.Glu220Ala Uncertain significance Single submitter
- ERC1 p.Glu514Asp Uncertain significance Single submitter
- ERC1 p.Glu714Ala Uncertain significance Single submitter
- ERC1 p.Glu714Lys Uncertain significance Single submitter
- ERC1 p.Glu871Lys Uncertain significance Single submitter
- ERC1 p.Gly48Asp Uncertain significance Single submitter
- ERC1 p.His432Arg Uncertain significance Single submitter
- ERC1 p.Ile852Leu Uncertain significance Single submitter
- ERC1 p.Ile852Lys Uncertain significance Single submitter
- ERC1 p.Ile935Val Uncertain significance Single submitter
- ERC1 p.Leu283His Uncertain significance Single submitter
- ERC1 p.Leu972Phe Uncertain significance Single submitter
- ERC1 p.Lys691Thr Uncertain significance Single submitter
- ERC1 p.Lys792Thr Uncertain significance Single submitter
- ERC1 p.Lys892Thr Uncertain significance Single submitter
- ERC1 p.Met183Val Uncertain significance Single submitter
- ERC1 p.Met565Val Uncertain significance Single submitter
- ERC1 p.Met858Thr Uncertain significance Single submitter
- ERC1 p.Pro1048Ala Uncertain significance Single submitter
- ERC1 p.Ser109Gly Uncertain significance Single submitter
- ERC1 p.Ser392Cys Uncertain significance Single submitter
- ERC1 p.Ser415Asn Uncertain significance Single submitter
- ERC1 p.Ser87Ile Uncertain significance Single submitter
- ERC1 p.Ser936Asn Uncertain significance Single submitter
- ERC1 p.Ser995Tyr Uncertain significance Single submitter
- ERC1 p.Thr522Ser Uncertain significance Single submitter
- ERC1 p.Thr53Asn Uncertain significance Single submitter
- ERC1 p.Tyr66Ser Uncertain significance Single submitter
- ERC1 p.Val383Leu Uncertain significance Single submitter
-
ERC1 p.Arg103Pro
Likely benign
No assertion criteria
ERC1-related disorder
-
ERC1 p.Ile629Val
Benign
No assertion criteria
ERC1-related disorder
All ERC1 variants
Likely pathogenic 1
- p.Leu1013fs Single submitter macrocephaly, dysmorphic facies, and psychomotor retardation
Benign 10
- p.Ser393= Multiple submitters
- c.2158-4G>A No assertion criteria ERC1-related disorder
- c.3214-9246C>T No assertion criteria ERC1-related disorder
- p.Ala940= No assertion criteria ERC1-related disorder
- p.Gln16His No assertion criteria ERC1-related disorder
- p.Ile629Val No assertion criteria ERC1-related disorder ⚠
- p.Lys458Glu No assertion criteria ERC1-related disorder
- p.Ser509= No assertion criteria ERC1-related disorder
- p.Ser50Gly No assertion criteria ERC1-related disorder
- p.Thr1032Ala No assertion criteria ERC1-related disorder
Likely benign 7
- p.Gln453= Single submitter
- p.Pro99= Single submitter
- c.1738-6A>C No assertion criteria ERC1-related disorder
- c.3214-9201G>T No assertion criteria ERC1-related disorder
- p.Arg103Pro No assertion criteria ERC1-related disorder ⚠
- p.His342= No assertion criteria ERC1-related disorder
- p.Tyr100= No assertion criteria ERC1-related disorder
Uncertain significance 135
- c.3214-1G>A Single submitter
- p.Ala1058Val Single submitter ⚠
- p.Ala199Thr Single submitter ⚠
- p.Ala260Glu Single submitter ⚠
- p.Ala5Ser Single submitter ⚠
- p.Ala621Thr Single submitter ⚠
- p.Ala682Ser Single submitter ⚠
- p.Ala720Thr Single submitter ⚠
- p.Ala814Val Single submitter ⚠
- p.Ala861Pro Single submitter ⚠
- p.Ala940Ser Single submitter ⚠
- p.Arg103Gln Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg1043Cys Single submitter ⚠
- p.Arg1069Pro Single submitter ⚠
- p.Arg1069Trp Single submitter ⚠
- p.Arg169Leu Single submitter ⚠
- p.Arg20Cys Single submitter ⚠
- p.Arg20His Single submitter ⚠
- p.Arg276Gln Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg33Cys Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg430Gln Single submitter ⚠
- p.Arg571Gln Single submitter ⚠
- p.Arg627Gln Single submitter ⚠
- p.Arg627Trp Single submitter ⚠
- p.Arg631His Single submitter ⚠
- p.Arg636Lys Single submitter ⚠
- p.Arg641Gln Single submitter ⚠
- p.Arg695Gln Single submitter ⚠
- p.Arg695Trp Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg736Gln Single submitter ⚠
- p.Arg760Gly Single submitter ⚠
- p.Arg816Gln Single submitter ⚠
- p.Arg867Thr Single submitter ⚠
- p.Arg963Gln Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Asn820Ser Single submitter ⚠
- p.Asn822Ser Single submitter ⚠
- p.Asn911His Single submitter ⚠
- p.Asn941Ser Single submitter ⚠
- p.Asp1036Glu Single submitter ⚠
- p.Asp1055Asn Single submitter ⚠
- p.Asp121Gly Single submitter ⚠
- p.Asp148Asn Single submitter ⚠
- p.Asp589Glu Single submitter ⚠
- p.Asp653Asn Single submitter ⚠
- p.Asp653Glu Single submitter ⚠
- p.Asp667Asn Single submitter ⚠
- p.Gln1073Pro Single submitter ⚠
- p.Gln230His Single submitter ⚠
- p.Gln298Glu Single submitter ⚠
- p.Gln470Arg Single submitter ⚠
- p.Gln789Glu Single submitter ⚠
- p.Gln829Lys Single submitter ⚠
- p.Gln955Leu Single submitter ⚠
- p.Glu220Ala Single submitter ⚠
- p.Glu514Asp Single submitter ⚠
- p.Glu708Gln Single submitter ⚠
- p.Glu714Ala Single submitter ⚠
- p.Glu714Lys Single submitter ⚠
- p.Glu871Lys Single submitter ⚠
- p.Gly101Asp Single submitter ⚠
- p.Gly108Asp Single submitter ⚠
- p.Gly48Asp Single submitter ⚠
- p.Gly666Asp Single submitter ⚠
- p.Gly95Glu Single submitter ⚠
- p.His1002Gln Single submitter ⚠
- p.His1035Tyr Single submitter ⚠
- p.His274Tyr Single submitter ⚠
- p.His432Arg Single submitter ⚠
- p.His681Arg Single submitter ⚠
- p.Ile1027Ser Single submitter ⚠
- p.Ile503Thr Single submitter ⚠
- p.Ile580Thr Single submitter ⚠
- p.Ile629Thr Single submitter ⚠
- p.Ile737Val Single submitter ⚠
- p.Ile852Leu Single submitter ⚠
- p.Ile852Lys Single submitter ⚠
- p.Ile935Val Single submitter ⚠
- p.Leu270His Single submitter ⚠
- p.Leu283His Single submitter ⚠
- p.Leu288Trp Single submitter ⚠
- p.Leu336Pro Single submitter ⚠
- p.Leu685Pro Single submitter ⚠
- p.Leu972Phe Single submitter ⚠
- p.Lys658Met Single submitter ⚠
- p.Lys691Thr Single submitter ⚠
- p.Lys718Glu Single submitter ⚠
- p.Lys792Thr Single submitter ⚠
- p.Lys806Arg Single submitter ⚠
- p.Lys883Thr Single submitter ⚠
- p.Lys892Thr Single submitter ⚠
- p.Met152Thr Single submitter ⚠
- p.Met183Val Single submitter ⚠
- p.Met394Leu Single submitter ⚠
- p.Met565Val Single submitter ⚠
- p.Met72Val Single submitter ⚠
- p.Met858Thr Single submitter ⚠
- p.Met983Thr Single submitter ⚠
- p.Phe368Cys Single submitter ⚠
- p.Phe368Val Single submitter ⚠
- p.Phe992Leu Single submitter ⚠
- p.Pro1004Ser Single submitter ⚠
- p.Pro1012Arg Single submitter ⚠
- p.Pro1048Ala Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro22Ser Single submitter ⚠
- p.Ser1021Ile Single submitter ⚠
- p.Ser109Gly Single submitter ⚠
- p.Ser318Asn Single submitter ⚠
- p.Ser392Cys Single submitter ⚠
- p.Ser415Asn Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Ser449Leu Single submitter ⚠
- p.Ser595Asn Single submitter ⚠
- p.Ser87Ile Single submitter ⚠
- p.Ser936Asn Single submitter ⚠
- p.Ser995Tyr Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr38Met Single submitter ⚠
- p.Thr522Ser Single submitter ⚠
- p.Thr53Asn Single submitter ⚠
- p.Thr608Ile Single submitter ⚠
- p.Thr611Ile Single submitter ⚠
- p.Thr868Ile Single submitter ⚠
- p.Tyr66Ser Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val218Leu Single submitter ⚠
- p.Val343Ile Single submitter ⚠
- p.Val383Leu Single submitter ⚠
- p.Val768Met Single submitter ⚠