ERN1 — 118 ClinVar variants
All ClinVar germline ERN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
3 Benign · 7 Likely benign · 108 Uncertain significance
Full ERN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERN1 p.Ala427Thr Uncertain significance Single submitter
- ERN1 p.Ala431Pro Uncertain significance Single submitter
- ERN1 p.Ala435Asp Uncertain significance Single submitter
- ERN1 p.Ala435Thr Uncertain significance Single submitter
- ERN1 p.Ala435Val Uncertain significance Single submitter
- ERN1 p.Ala641Gly Uncertain significance Single submitter
- ERN1 p.Ala641Val Uncertain significance Single submitter
- ERN1 p.Ala814Glu Uncertain significance Single submitter
- ERN1 p.Ala916Thr Uncertain significance Single submitter
- ERN1 p.Ala942Thr Uncertain significance Single submitter
- ERN1 p.Ala976Thr Uncertain significance Single submitter
- ERN1 p.Arg174Gly Uncertain significance Single submitter
- ERN1 p.Arg234Gln Uncertain significance Single submitter
- ERN1 p.Arg251His Uncertain significance Single submitter
- ERN1 p.Arg356Ser Uncertain significance Single submitter
- ERN1 p.Arg387Gln Uncertain significance Single submitter
- ERN1 p.Arg936Cys Uncertain significance Single submitter
- ERN1 p.Arg936His Uncertain significance Single submitter
- ERN1 p.Asn381Lys Uncertain significance Single submitter
- ERN1 p.Asp189Asn Uncertain significance Single submitter
- ERN1 p.Asp339Asn Uncertain significance Single submitter
- ERN1 p.Asp927Asn Uncertain significance Single submitter
- ERN1 p.Asp927Glu Uncertain significance Single submitter
- ERN1 p.Cys630Trp Uncertain significance Single submitter
- ERN1 p.Glu273Lys Uncertain significance Single submitter
- ERN1 p.Glu618Asp Uncertain significance Single submitter
- ERN1 p.Glu807Lys Uncertain significance Single submitter
- ERN1 p.Glu913Gly Uncertain significance Single submitter
- ERN1 p.Gly214Arg Uncertain significance Single submitter
- ERN1 p.Gly310Ser Uncertain significance Single submitter
- ERN1 p.Gly327Arg Uncertain significance Single submitter
- ERN1 p.Gly330Glu Uncertain significance Single submitter
- ERN1 p.Gly345Arg Uncertain significance Single submitter
- ERN1 p.Gly508Ser Uncertain significance Single submitter
- ERN1 p.Gly508Val Uncertain significance Single submitter
- ERN1 p.Gly662Ser Uncertain significance Single submitter
- ERN1 p.Gly856Asp Uncertain significance Single submitter
- ERN1 p.His242Tyr Uncertain significance Single submitter
- ERN1 p.His535Pro Uncertain significance Single submitter
- ERN1 p.His67Gln Uncertain significance Single submitter
- ERN1 p.Ile124Met Uncertain significance Single submitter
- ERN1 p.Ile326Thr Uncertain significance Single submitter
- ERN1 p.Ile334Leu Uncertain significance Single submitter
- ERN1 p.Ile601Phe Uncertain significance Single submitter
- ERN1 p.Ile878Asn Uncertain significance Single submitter
- ERN1 p.Leu103Met Uncertain significance Single submitter
- ERN1 p.Leu28Phe Uncertain significance Single submitter
- ERN1 p.Leu406Val Uncertain significance Single submitter
- ERN1 p.Lys341Arg Uncertain significance Single submitter
- ERN1 p.Lys374Gln Uncertain significance Single submitter
- ERN1 p.Met118Leu Uncertain significance Single submitter
- ERN1 p.Met195Val Uncertain significance Single submitter
- ERN1 p.Phe929Ser Uncertain significance Single submitter
- ERN1 p.Pro384Ala Uncertain significance Single submitter
- ERN1 p.Pro550Ser Uncertain significance Single submitter
- ERN1 p.Pro751Ala Uncertain significance Single submitter
- ERN1 p.Pro971Gln Uncertain significance Single submitter
- ERN1 p.Ser674Leu Uncertain significance Single submitter
- ERN1 p.Thr373Ala Uncertain significance Single submitter
- ERN1 p.Thr446Pro Uncertain significance Single submitter
- ERN1 p.Thr504Met Uncertain significance Single submitter
- ERN1 p.Thr584Ala Uncertain significance Single submitter
- ERN1 p.Thr631Ala Uncertain significance Single submitter
- ERN1 p.Thr94Met Uncertain significance Single submitter
- ERN1 p.Val26Leu Uncertain significance Single submitter
- ERN1 p.Val324Ile Uncertain significance Single submitter
- ERN1 p.Val340Ile Uncertain significance Single submitter
- ERN1 p.Val563Leu Uncertain significance Single submitter
- ERN1 p.Val596Met Uncertain significance Single submitter
- ERN1 p.Val598Met Uncertain significance Single submitter
- ERN1 p.Val625Met Uncertain significance Single submitter
- ERN1 p.Val763Ile Uncertain significance Single submitter
- ERN1 p.Val869Met Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- ERN1 p.Ala760Ser Uncertain significance Single submitter
- ERN1 p.Ala823Val Uncertain significance Single submitter
- ERN1 p.Arg171Gln Uncertain significance Single submitter
- ERN1 p.Arg174Gln Uncertain significance Single submitter
- ERN1 p.Arg174Trp Uncertain significance Single submitter
- ERN1 p.Arg234Trp Uncertain significance Single submitter
- ERN1 p.Arg432Trp Uncertain significance Single submitter
- ERN1 p.Arg875Trp Uncertain significance Single submitter
- ERN1 p.Arg912Trp Uncertain significance Single submitter
- ERN1 p.Arg919Trp Uncertain significance Single submitter
- ERN1 p.Asn700Lys Uncertain significance Single submitter
- ERN1 p.Asp443Glu Uncertain significance Single submitter
- ERN1 p.Asp575Tyr Uncertain significance Single submitter
- ERN1 p.Asp746Gly Uncertain significance Single submitter
- ERN1 p.Asp816Tyr Uncertain significance Single submitter
- ERN1 p.Asp855Gly Uncertain significance Single submitter
- ERN1 p.Glu102Asp Uncertain significance Single submitter
- ERN1 p.Glu964Lys Uncertain significance Single submitter
- ERN1 p.Gly865Ser Uncertain significance Single submitter
- ERN1 p.Ile585Val Uncertain significance Single submitter
- ERN1 p.Met904Val Uncertain significance Single submitter
- ERN1 p.Ser536Leu Uncertain significance Single submitter
- ERN1 p.Ser539Phe Uncertain significance Single submitter
- ERN1 p.Ser551Phe Likely benign Single submitter
- ERN1 p.Ser834Arg Uncertain significance Single submitter
- ERN1 p.Thr264Ile Uncertain significance Single submitter
- ERN1 p.Thr264Lys Uncertain significance Single submitter
- ERN1 p.Thr335Met Uncertain significance Single submitter
- ERN1 p.Thr528Met Uncertain significance Single submitter
- ERN1 p.Thr754Met Uncertain significance Single submitter
- ERN1 p.Val26Met Uncertain significance Single submitter
- ERN1 p.Val437Met Uncertain significance Single submitter
- ERN1 p.Val653Met Uncertain significance Single submitter
- ERN1 p.Val767Ile Uncertain significance Single submitter
- ERN1 p.Val826Met Uncertain significance Single submitter
- ERN1 p.Val930Met Uncertain significance Single submitter
All ERN1 variants
Benign 3
- p.Leu786= Multiple submitters
- p.Pro550Arg Multiple submitters
- c.283-19_283-18dup Single submitter
Likely benign 7
- p.Arg420Gln Single submitter
- p.Gly540Ser Single submitter
- p.Gly557Glu Single submitter
- p.Pro516Leu Single submitter
- p.Ser521= Single submitter
- p.Ser551Phe Single submitter ⚠
- p.Thr132= Single submitter
Uncertain significance 108
- p.Ala427Thr Single submitter ⚠
- p.Ala431Pro Single submitter ⚠
- p.Ala435Asp Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala435Val Single submitter ⚠
- p.Ala641Gly Single submitter ⚠
- p.Ala641Val Single submitter ⚠
- p.Ala760Ser Single submitter ⚠
- p.Ala814Glu Single submitter ⚠
- p.Ala823Val Single submitter ⚠
- p.Ala916Thr Single submitter ⚠
- p.Ala942Thr Single submitter ⚠
- p.Ala976Thr Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg174Gly Single submitter ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg234Trp Single submitter ⚠
- p.Arg251His Single submitter ⚠
- p.Arg356Ser Single submitter ⚠
- p.Arg387Gln Single submitter ⚠
- p.Arg432Trp Single submitter ⚠
- p.Arg875Trp Single submitter ⚠
- p.Arg912Trp Single submitter ⚠
- p.Arg919Trp Single submitter ⚠
- p.Arg936Cys Single submitter ⚠
- p.Arg936His Single submitter ⚠
- p.Asn381Lys Single submitter ⚠
- p.Asn700Lys Single submitter ⚠
- p.Asp189Asn Single submitter ⚠
- p.Asp339Asn Single submitter ⚠
- p.Asp443Glu Single submitter ⚠
- p.Asp575Tyr Single submitter ⚠
- p.Asp746Gly Single submitter ⚠
- p.Asp816Tyr Single submitter ⚠
- p.Asp855Gly Single submitter ⚠
- p.Asp927Asn Single submitter ⚠
- p.Asp927Glu Single submitter ⚠
- p.Cys630Trp Single submitter ⚠
- p.Glu102Asp Single submitter ⚠
- p.Glu273Lys Single submitter ⚠
- p.Glu618Asp Single submitter ⚠
- p.Glu807Lys Single submitter ⚠
- p.Glu913Gly Single submitter ⚠
- p.Glu964Lys Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Gly310Ser Single submitter ⚠
- p.Gly327Arg Single submitter ⚠
- p.Gly330Glu Single submitter ⚠
- p.Gly345Arg Single submitter ⚠
- p.Gly508Ser Single submitter ⚠
- p.Gly508Val Single submitter ⚠
- p.Gly662Ser Single submitter ⚠
- p.Gly856Asp Single submitter ⚠
- p.Gly865Ser Single submitter ⚠
- p.His242Tyr Single submitter ⚠
- p.His535Pro Single submitter ⚠
- p.His67Gln Single submitter ⚠
- p.Ile124Met Single submitter ⚠
- p.Ile326Thr Single submitter ⚠
- p.Ile334Leu Single submitter ⚠
- p.Ile585Val Single submitter ⚠
- p.Ile601Phe Single submitter ⚠
- p.Ile878Asn Single submitter ⚠
- p.Leu103Met Single submitter ⚠
- p.Leu28Phe Single submitter ⚠
- p.Leu406Val Single submitter ⚠
- p.Lys341Arg Single submitter ⚠
- p.Lys374Gln Single submitter ⚠
- p.Met118Leu Single submitter ⚠
- p.Met195Val Single submitter ⚠
- p.Met904Val Single submitter ⚠
- p.Phe929Ser Single submitter ⚠
- p.Pro384Ala Single submitter ⚠
- p.Pro550Ser Single submitter ⚠
- p.Pro751Ala Single submitter ⚠
- p.Pro971Gln Single submitter ⚠
- p.Ser536Leu Single submitter ⚠
- p.Ser539Phe Single submitter ⚠
- p.Ser674Leu Single submitter ⚠
- p.Ser834Arg Single submitter ⚠
- p.Thr264Ile Single submitter ⚠
- p.Thr264Lys Single submitter ⚠
- p.Thr335Met Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Thr446Pro Single submitter ⚠
- p.Thr504Met Single submitter ⚠
- p.Thr528Met Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr631Ala Single submitter ⚠
- p.Thr754Met Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Val26Leu Single submitter ⚠
- p.Val26Met Single submitter ⚠
- p.Val324Ile Single submitter ⚠
- p.Val340Ile Single submitter ⚠
- p.Val437Met Single submitter ⚠
- p.Val563Leu Single submitter ⚠
- p.Val596Met Single submitter ⚠
- p.Val598Met Single submitter ⚠
- p.Val625Met Single submitter ⚠
- p.Val653Met Single submitter ⚠
- p.Val763Ile Single submitter ⚠
- p.Val767Ile Single submitter ⚠
- p.Val826Met Single submitter ⚠
- p.Val869Met Single submitter ⚠
- p.Val930Met Single submitter ⚠