EZR — 108 ClinVar variants
All ClinVar germline EZR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →
1 Conflicting · 9 Benign · 1 Benign/Likely benign · 22 Likely benign · 75 Uncertain significance
Full EZR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 71
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EZR p.Ala494Val Uncertain significance Multiple submitters
- EZR p.Thr533Met Uncertain significance Multiple submitters
- EZR p.Ala187Val Uncertain significance Single submitter
- EZR p.Ala391Val Uncertain significance Single submitter
- EZR p.Ala395Thr Uncertain significance Single submitter
- EZR p.Ala407Val Uncertain significance Single submitter
- EZR p.Ala501Thr Uncertain significance Single submitter
- EZR p.Ala82Gly Uncertain significance Single submitter
- EZR p.Arg275Gly Uncertain significance Single submitter
- EZR p.Arg393Cys Uncertain significance Single submitter
- EZR p.Arg398Gln Uncertain significance Single submitter
- EZR p.Arg435Trp Uncertain significance Single submitter
- EZR p.Arg509Gln Uncertain significance Single submitter
- EZR p.Arg512His Uncertain significance Single submitter
- EZR p.Arg526His Uncertain significance Single submitter
- EZR p.Arg529Gln Uncertain significance Single submitter
- EZR p.Arg562Gln Uncertain significance Single submitter
- EZR p.Arg562Trp Uncertain significance Single submitter
- EZR p.Arg8Pro Uncertain significance Single submitter
- EZR p.Asn545Ser Uncertain significance Single submitter
- EZR p.Asp62Asn Uncertain significance Single submitter
- EZR p.Gln32Glu Uncertain significance Single submitter
- EZR p.Glu207Lys Uncertain significance Single submitter
- EZR p.Glu451Ala Uncertain significance Single submitter
- EZR p.Glu479Lys Uncertain significance Single submitter
- EZR p.Glu525Lys Uncertain significance Single submitter
- EZR p.Glu92Asp Uncertain significance Single submitter
- EZR p.Gly493Arg Uncertain significance Single submitter
- EZR p.Gly498Val Uncertain significance Single submitter
- EZR p.His314Tyr Uncertain significance Single submitter
- EZR p.His464Tyr Uncertain significance Single submitter
- EZR p.Ile552Asn Uncertain significance Single submitter
- EZR p.Ile552Val Uncertain significance Single submitter
- EZR p.Ile580Val Uncertain significance Single submitter
- EZR p.Lys211Asn Uncertain significance Single submitter
- EZR p.Lys337Arg Uncertain significance Single submitter
- EZR p.Met188Val Uncertain significance Single submitter
- EZR p.Pro470Ser Uncertain significance Single submitter
- EZR p.Pro476Ala Uncertain significance Single submitter
- EZR p.Pro480Ser Uncertain significance Single submitter
- EZR p.Ser488Arg Uncertain significance Single submitter
- EZR p.Ser536Gly Uncertain significance Single submitter
- EZR p.Trp217Leu Uncertain significance Single submitter
- EZR p.Tyr270His Uncertain significance Single submitter
- EZR p.Tyr354Cys Uncertain significance Single submitter
- EZR p.Tyr85Cys Uncertain significance Single submitter
- EZR p.Tyr85His Uncertain significance Single submitter
- EZR p.Tyr85Ser Uncertain significance Single submitter
- EZR p.Val477Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- EZR p.Arg381Gln Uncertain significance Multiple submitters
- EZR p.Arg180Cys Uncertain significance Single submitter
- EZR p.Arg310Gln Uncertain significance Single submitter
- EZR p.Arg310Trp Uncertain significance Single submitter
- EZR p.Arg388Cys Uncertain significance Single submitter
- EZR p.Arg437Cys Uncertain significance Single submitter
- EZR p.Arg529Trp Uncertain significance Single submitter
- EZR p.Arg542Gln Uncertain significance Single submitter
- EZR p.Asp166Gly Uncertain significance Single submitter
- EZR p.Glu367Lys Uncertain significance Single submitter
- EZR p.Glu401Gly Uncertain significance Single submitter
- EZR p.His142Tyr Uncertain significance Single submitter
- EZR p.Ile115Met Uncertain significance Single submitter
- EZR p.Ile260Met Uncertain significance Single submitter
- EZR p.Ile428Thr Uncertain significance Single submitter
- EZR p.Lys143Glu Uncertain significance Single submitter
- EZR p.Lys253Arg Uncertain significance Single submitter
-
EZR p.Lys546Glu
Uncertain significance
Single submitter
EZR-related disorder
- EZR p.Met467Ile Uncertain significance Single submitter
- EZR p.Pro154Ser Uncertain significance Single submitter
- EZR p.Pro476Ser Uncertain significance Single submitter
- EZR p.Ala129Thr Uncertain significance No assertion criteria
All EZR variants
Conflicting classifications of pathogenicity 1
- c.959+7G>A Single submitter
Benign 9
- p.Tyr354= Multiple submitters
- c.97-18TC[5] Single submitter
- p.Ala396= Single submitter
- p.Ala494Pro Single submitter
- p.Glu41= Single submitter
- p.Thr425= Single submitter
- c.1090+8G>A No assertion criteria EZR-related disorder
- c.1345-5C>T No assertion criteria EZR-related disorder
- p.Asn6Ser No assertion criteria EZR-related disorder
Benign/Likely benign 1
- p.Glu377= Multiple submitters
Likely benign 22
- p.Asn251Ser Multiple submitters
- p.Pro474= Multiple submitters
- c.699-6C>T Single submitter
- c.97-5C>T Single submitter
- p.Ala122= Single submitter
- p.Arg436= Single submitter
- p.Glu108= Single submitter
- p.Ile300= Single submitter
- p.Ile580= Single submitter
- p.Lys450= Single submitter
- p.Pro265= Single submitter
- p.Pro471Leu Single submitter
- p.Pro473= Single submitter
- p.Pro480= Single submitter
- p.Thr567= Single submitter
- p.Tyr478= Single submitter
- c.552-6A>G No assertion criteria EZR-related disorder
- p.Ala434= No assertion criteria EZR-related disorder
- p.Arg350= No assertion criteria EZR-related disorder
- p.Arg40= No assertion criteria EZR-related disorder
- p.Arg405= No assertion criteria EZR-related disorder
- p.Leu147= No assertion criteria EZR-related disorder
Uncertain significance 75
- p.Ala494Val Multiple submitters ⚠
- p.Arg381Gln Multiple submitters ⚠
- p.Thr533Met Multiple submitters ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala391Val Single submitter ⚠
- p.Ala395Thr Single submitter ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala501Thr Single submitter ⚠
- p.Ala82Gly Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg275Gly Single submitter ⚠
- p.Arg310Gln Single submitter ⚠
- p.Arg310Trp Single submitter ⚠
- p.Arg388Cys Single submitter ⚠
- p.Arg393Cys Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg435Trp Single submitter ⚠
- p.Arg437Cys Single submitter ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg512His Single submitter ⚠
- p.Arg526His Single submitter ⚠
- p.Arg529Gln Single submitter ⚠
- p.Arg529Trp Single submitter ⚠
- p.Arg542Gln Single submitter ⚠
- p.Arg547Glu Single submitter EZR-related disorder
- p.Arg562Gln Single submitter ⚠
- p.Arg562Trp Single submitter ⚠
- p.Arg8Pro Single submitter ⚠
- p.Asn545Ser Single submitter ⚠
- p.Asp166Gly Single submitter ⚠
- p.Asp62Asn Single submitter ⚠
- p.Gln32Glu Single submitter ⚠
- p.Glu207Lys Single submitter ⚠
- p.Glu367Lys Single submitter ⚠
- p.Glu401Gly Single submitter ⚠
- p.Glu451Ala Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu525Lys Single submitter ⚠
- p.Glu92Asp Single submitter ⚠
- p.Gly493Arg Single submitter ⚠
- p.Gly498Val Single submitter ⚠
- p.His142Tyr Single submitter ⚠
- p.His314Tyr Single submitter ⚠
- p.His464Tyr Single submitter ⚠
- p.Ile115Met Single submitter ⚠
- p.Ile260Met Single submitter ⚠
- p.Ile428Thr Single submitter ⚠
- p.Ile552Asn Single submitter ⚠
- p.Ile552Val Single submitter ⚠
- p.Ile580Val Single submitter ⚠
- p.Leu431= Single submitter
- p.Lys143Glu Single submitter ⚠
- p.Lys211Asn Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys337Arg Single submitter ⚠
- p.Lys546Glu Single submitter EZR-related disorder ⚠
- p.Met188Ile Single submitter
- p.Met188Val Single submitter ⚠
- p.Met467Ile Single submitter ⚠
- p.Pro119Ala Single submitter
- p.Pro154Ser Single submitter ⚠
- p.Pro470Ser Single submitter ⚠
- p.Pro476Ala Single submitter ⚠
- p.Pro476Ser Single submitter ⚠
- p.Pro480Ser Single submitter ⚠
- p.Ser488Arg Single submitter ⚠
- p.Ser536Gly Single submitter ⚠
- p.Trp217Leu Single submitter ⚠
- p.Tyr270His Single submitter ⚠
- p.Tyr354Cys Single submitter ⚠
- p.Tyr85Cys Single submitter ⚠
- p.Tyr85His Single submitter ⚠
- p.Tyr85Ser Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Ala129Thr No assertion criteria ⚠