EIF3B — 177 ClinVar variants
All ClinVar germline EIF3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 130 flagged for review →
2 Pathogenic · 31 Benign · 4 Likely benign · 140 Uncertain significance
Full EIF3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 130
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 104
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF3B p.Ala123Thr Uncertain significance Single submitter
- EIF3B p.Ala135Pro Uncertain significance Single submitter
- EIF3B p.Ala136Val Uncertain significance Single submitter
- EIF3B p.Ala238Thr Uncertain significance Single submitter
- EIF3B p.Ala246Val Uncertain significance Single submitter
- EIF3B p.Ala250Thr Uncertain significance Single submitter
- EIF3B p.Ala25Thr Uncertain significance Single submitter
- EIF3B p.Ala25Val Uncertain significance Single submitter
- EIF3B p.Ala38Glu Uncertain significance Single submitter
- EIF3B p.Ala42Ser Uncertain significance Single submitter
- EIF3B p.Ala46Thr Uncertain significance Single submitter
- EIF3B p.Ala4Val Uncertain significance Single submitter
- EIF3B p.Ala50Thr Uncertain significance Single submitter
- EIF3B p.Ala636Val Uncertain significance Single submitter
- EIF3B p.Ala74Ser Uncertain significance Single submitter
- EIF3B p.Ala88Val Uncertain significance Single submitter
- EIF3B p.Ala97Thr Uncertain significance Single submitter
- EIF3B p.Ala97Val Uncertain significance Single submitter
- EIF3B p.Arg120Trp Uncertain significance Single submitter
- EIF3B p.Arg176Gln Uncertain significance Single submitter
- EIF3B p.Arg341Gly Uncertain significance Single submitter
- EIF3B p.Arg67Ser Uncertain significance Single submitter
- EIF3B p.Arg67Thr Uncertain significance Single submitter
- EIF3B p.Arg707Gln Uncertain significance Single submitter
- EIF3B p.Arg751Gly Uncertain significance Single submitter
- EIF3B p.Arg751His Uncertain significance Single submitter
- EIF3B p.Asn131Ser Uncertain significance Single submitter
- EIF3B p.Asn264Tyr Uncertain significance Single submitter
- EIF3B p.Asn695Ser Uncertain significance Single submitter
- EIF3B p.Asp127Asn Uncertain significance Single submitter
- EIF3B p.Asp149Gly Uncertain significance Single submitter
- EIF3B p.Asp226Asn Uncertain significance Single submitter
- EIF3B p.Asp270His Uncertain significance Single submitter
- EIF3B p.Asp3Glu Uncertain significance Single submitter
- EIF3B p.Asp607Asn Uncertain significance Single submitter
- EIF3B p.Gln104Pro Uncertain significance Single submitter
- EIF3B p.Gln194His Uncertain significance Single submitter
- EIF3B p.Gln520Arg Uncertain significance Single submitter
- EIF3B p.Gln714Glu Uncertain significance Single submitter
- EIF3B p.Glu132Asp Uncertain significance Single submitter
- EIF3B p.Glu139Ala Uncertain significance Single submitter
- EIF3B p.Glu139Asp Uncertain significance Single submitter
- EIF3B p.Glu157Gly Uncertain significance Single submitter
- EIF3B p.Glu278Lys Uncertain significance Single submitter
- EIF3B p.Glu27Ala Uncertain significance Single submitter
- EIF3B p.Glu53Asp Uncertain significance Single submitter
- EIF3B p.Glu53Lys Uncertain significance Single submitter
- EIF3B p.Glu59Asp Uncertain significance Single submitter
- EIF3B p.Glu5Asp Uncertain significance Single submitter
- EIF3B p.Glu770Val Uncertain significance Single submitter
- EIF3B p.Glu814Lys Uncertain significance Single submitter
- EIF3B p.Gly105Asp Uncertain significance Single submitter
- EIF3B p.Gly133Asp Uncertain significance Single submitter
- EIF3B p.Gly33Ala Uncertain significance Single submitter
- EIF3B p.Gly33Arg Uncertain significance Single submitter
- EIF3B p.Gly56Glu Uncertain significance Single submitter
- EIF3B p.Gly582Arg Uncertain significance Single submitter
- EIF3B p.Gly79Asp Uncertain significance Single submitter
- EIF3B p.His433Arg Uncertain significance Single submitter
- EIF3B p.Ile329Thr Uncertain significance Single submitter
- EIF3B p.Ile379Thr Uncertain significance Single submitter
- EIF3B p.Ile409Val Uncertain significance Single submitter
- EIF3B p.Ile648Val Uncertain significance Single submitter
- EIF3B p.Leu711His Uncertain significance Single submitter
- EIF3B p.Leu712Gln Uncertain significance Single submitter
- EIF3B p.Met454Val Uncertain significance Single submitter
- EIF3B p.Met496Thr Uncertain significance Single submitter
- EIF3B p.Met653Val Uncertain significance Single submitter
- EIF3B p.Phe381Leu Uncertain significance Single submitter
- EIF3B p.Phe577Cys Uncertain significance Single submitter
- EIF3B p.Pro100His Uncertain significance Single submitter
- EIF3B p.Pro140Arg Uncertain significance Single submitter
- EIF3B p.Pro156Ser Uncertain significance Single submitter
- EIF3B p.Pro29Leu Uncertain significance Single submitter
- EIF3B p.Pro383Ser Uncertain significance Single submitter
- EIF3B p.Pro401Ser Uncertain significance Single submitter
- EIF3B p.Pro40Ser Uncertain significance Single submitter
- EIF3B p.Pro40Thr Uncertain significance Single submitter
- EIF3B p.Pro708Arg Uncertain significance Single submitter
- EIF3B p.Pro70Ser Uncertain significance Single submitter
- EIF3B p.Pro809Leu Uncertain significance Single submitter
- EIF3B p.Pro80Thr Uncertain significance Single submitter
- EIF3B p.Pro84Ser Uncertain significance Single submitter
- EIF3B p.Pro93Leu Uncertain significance Single submitter
- EIF3B p.Pro99Leu Uncertain significance Single submitter
- EIF3B p.Ser119Gly Uncertain significance Single submitter
- EIF3B p.Ser328Ala Uncertain significance Single submitter
- EIF3B p.Ser575Gly Uncertain significance Single submitter
- EIF3B p.Ser728Phe Uncertain significance Single submitter
- EIF3B p.Thr397Met Uncertain significance Single submitter
- EIF3B p.Thr48Ile Uncertain significance Single submitter
- EIF3B p.Thr48Ser Uncertain significance Single submitter
- EIF3B p.Thr537Ile Uncertain significance Single submitter
- EIF3B p.Thr640Ile Uncertain significance Single submitter
- EIF3B p.Tyr232Phe Uncertain significance Single submitter
- EIF3B p.Val124Met Uncertain significance Single submitter
- EIF3B p.Val189Met Uncertain significance Single submitter
- EIF3B p.Val323Leu Uncertain significance Single submitter
- EIF3B p.Val554Ile Uncertain significance Single submitter
- EIF3B p.Val559Ile Uncertain significance Single submitter
- EIF3B p.Val666Ile Uncertain significance Single submitter
- EIF3B p.Val667Ile Uncertain significance Single submitter
- EIF3B p.Val791Met Uncertain significance Single submitter
- EIF3B p.Val7Met Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- EIF3B p.Arg141Trp Uncertain significance Single submitter
- EIF3B p.Arg315His Uncertain significance Single submitter
- EIF3B p.Asn219Asp Uncertain significance Single submitter
- EIF3B p.Asn264Ser Uncertain significance Single submitter
- EIF3B p.Asp268Asn Uncertain significance Single submitter
- EIF3B p.Asp314His Uncertain significance Single submitter
- EIF3B p.Asp793Asn Uncertain significance Single submitter
- EIF3B p.Glu179Gly Uncertain significance Single submitter
- EIF3B p.Glu27Lys Uncertain significance Single submitter
- EIF3B p.Glu421Gln Uncertain significance Single submitter
- EIF3B p.Glu421Gly Uncertain significance Single submitter
- EIF3B p.Gly146Cys Uncertain significance Single submitter
- EIF3B p.Ile467Met Uncertain significance Single submitter
- EIF3B p.Ile730Thr Uncertain significance Single submitter
- EIF3B p.Leu625Val Uncertain significance Single submitter
- EIF3B p.Lys248Asn Uncertain significance Single submitter
- EIF3B p.Lys726Gln Uncertain significance Single submitter
- EIF3B p.Met646Leu Uncertain significance Single submitter
- EIF3B p.Met753Thr Uncertain significance Single submitter
- EIF3B p.Phe319Leu Uncertain significance Single submitter
- EIF3B p.Phe437Leu Uncertain significance Single submitter
- EIF3B p.Pro156His Uncertain significance Single submitter
- EIF3B p.Ser276Ile Uncertain significance Single submitter
- EIF3B p.Thr316Ile Uncertain significance Single submitter
- EIF3B p.Thr640Ser Uncertain significance Single submitter
- EIF3B p.Val782Ala Uncertain significance Single submitter
All EIF3B variants
Pathogenic 2
- p.Gly170Ter Single submitter
- p.Gly412Ter Single submitter
Benign 31
- p.Asn145= Multiple submitters
- p.Ser64Pro Multiple submitters
- c.1000-186T>A Single submitter
- c.1000-5T>C Single submitter
- c.1158-67C>A Single submitter
- c.1357-128C>T Single submitter
- c.1403+69A>C Single submitter
- c.1403+74del Single submitter
- c.1404-72C>T Single submitter
- c.1687+160C>T Single submitter
- c.1810+136C>G Single submitter
- c.1810+208A>G Single submitter
- c.1810+63C>T Single submitter
- c.1811-21A>G Single submitter
- c.1889+124A>G Single submitter
- c.1890-199A>G Single submitter
- c.2154+101A>T Single submitter
- c.2154+112A>G Single submitter
- c.2233-124A>G Single submitter
- c.500-39T>C Single submitter
- c.871-204G>A Single submitter
- c.-504-438_-504-436dup Single submitter
- c.-505+466C>T Single submitter
- c.-505+486C>G Single submitter
- p.His419= Single submitter
- p.His581= Single submitter
- p.Ile183= Single submitter
- p.Ile648= Single submitter
- p.Leu628= Single submitter
- p.Val163Leu Single submitter
- p.Val376= Single submitter
Likely benign 4
- p.Pro24= Multiple submitters
- p.Arg334= Single submitter
- p.Phe606= Single submitter
- p.Pro100Arg Single submitter
Uncertain significance 140
- c.1357-16C>T Single submitter EIF3B-related disorder
- p.Ala123Thr Single submitter ⚠
- p.Ala135Pro Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala25Val Single submitter ⚠
- p.Ala38Glu Single submitter ⚠
- p.Ala42Ser Single submitter ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Ala636Val Single submitter ⚠
- p.Ala74Ser Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg341Gly Single submitter ⚠
- p.Arg67Ser Single submitter ⚠
- p.Arg67Thr Single submitter ⚠
- p.Arg707fs Single submitter
- p.Arg707Gln Single submitter ⚠
- p.Arg751Gly Single submitter ⚠
- p.Arg751His Single submitter ⚠
- p.Arg761Gln Single submitter
- p.Asn131Ser Single submitter ⚠
- p.Asn219Asp Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asn264Tyr Single submitter ⚠
- p.Asn695Ser Single submitter ⚠
- p.Asp127Asn Single submitter ⚠
- p.Asp149Gly Single submitter ⚠
- p.Asp226Asn Single submitter ⚠
- p.Asp268Asn Single submitter ⚠
- p.Asp270His Single submitter ⚠
- p.Asp314His Single submitter ⚠
- p.Asp3Glu Single submitter ⚠
- p.Asp607Asn Single submitter ⚠
- p.Asp793Asn Single submitter ⚠
- p.Gln104Pro Single submitter ⚠
- p.Gln194His Single submitter ⚠
- p.Gln369Ter Single submitter
- p.Gln520Arg Single submitter ⚠
- p.Gln714Glu Single submitter ⚠
- p.Glu132Asp Single submitter ⚠
- p.Glu139Ala Single submitter ⚠
- p.Glu139Asp Single submitter ⚠
- p.Glu14Ter Single submitter
- p.Glu157Gly Single submitter ⚠
- p.Glu179Gly Single submitter ⚠
- p.Glu278Lys Single submitter ⚠
- p.Glu27Ala Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu421Gln Single submitter ⚠
- p.Glu421Gly Single submitter ⚠
- p.Glu53Asp Single submitter ⚠
- p.Glu53Lys Single submitter ⚠
- p.Glu59Asp Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Glu650fs Single submitter
- p.Glu770Val Single submitter ⚠
- p.Glu814Lys Single submitter ⚠
- p.Gly105Asp Single submitter ⚠
- p.Gly133Asp Single submitter ⚠
- p.Gly146Cys Single submitter ⚠
- p.Gly33Ala Single submitter ⚠
- p.Gly33Arg Single submitter ⚠
- p.Gly56Glu Single submitter ⚠
- p.Gly582Arg Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.His433Arg Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile379Thr Single submitter ⚠
- p.Ile409Val Single submitter ⚠
- p.Ile467Met Single submitter ⚠
- p.Ile648Val Single submitter ⚠
- p.Ile730Thr Single submitter ⚠
- p.Leu173fs Single submitter
- p.Leu625Val Single submitter ⚠
- p.Leu711His Single submitter ⚠
- p.Leu712Gln Single submitter ⚠
- p.Lys248Asn Single submitter ⚠
- p.Lys726Gln Single submitter ⚠
- p.Lys729Ter Single submitter
- p.Met454Val Single submitter ⚠
- p.Met496Thr Single submitter ⚠
- p.Met646Leu Single submitter ⚠
- p.Met653Val Single submitter ⚠
- p.Met753Thr Single submitter ⚠
- p.Phe319Leu Single submitter ⚠
- p.Phe381Leu Single submitter ⚠
- p.Phe437Leu Single submitter ⚠
- p.Phe577Cys Single submitter ⚠
- p.Pro100His Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro156His Single submitter ⚠
- p.Pro156Ser Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro383Ser Single submitter ⚠
- p.Pro401Ser Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro40Thr Single submitter ⚠
- p.Pro708Arg Single submitter ⚠
- p.Pro70Ser Single submitter ⚠
- p.Pro809Leu Single submitter ⚠
- p.Pro80Thr Single submitter ⚠
- p.Pro84Ser Single submitter ⚠
- p.Pro93Leu Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser119Gly Single submitter ⚠
- p.Ser276Ile Single submitter ⚠
- p.Ser328Ala Single submitter ⚠
- p.Ser575Gly Single submitter ⚠
- p.Ser728Phe Single submitter ⚠
- p.Thr316Ile Single submitter ⚠
- p.Thr397Met Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Thr48Ser Single submitter ⚠
- p.Thr537Ile Single submitter ⚠
- p.Thr640Ile Single submitter ⚠
- p.Thr640Ser Single submitter ⚠
- p.Tyr232Phe Single submitter ⚠
- p.Val124Met Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val323Leu Single submitter ⚠
- p.Val554Ile Single submitter ⚠
- p.Val559Ile Single submitter ⚠
- p.Val624fs Single submitter
- p.Val666Ile Single submitter ⚠
- p.Val667Ile Single submitter ⚠
- p.Val782Ala Single submitter ⚠
- p.Val791Met Single submitter ⚠
- p.Val7Met Single submitter ⚠
- p.Val803fs Single submitter