EIF5B — 126 ClinVar variants

All ClinVar germline EIF5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

6 Benign · 1 Benign/Likely benign · 2 Likely benign · 117 Uncertain significance

Full EIF5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 85

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 30

The independent predictors disagree with each other — read with care.

All EIF5B variants

Benign 6

p.Thr422= Multiple submitters
c.246+10A>T Single submitter
p.Gly405= Single submitter
p.Lys50= Single submitter
p.Ser588Gly Single submitter
p.Thr987= Single submitter

Benign/Likely benign 1

p.Glu237Val Multiple submitters ⚠

Likely benign 2

p.Asp544Glu Single submitter
p.Ile633Val Single submitter

Uncertain significance 117

p.Ala1006Ser Single submitter ⚠
p.Ala1049Ser Single submitter
p.Ala150Ser Single submitter ⚠
p.Ala21Thr Single submitter ⚠
p.Ala248Gly Single submitter ⚠
p.Ala428Pro Single submitter ⚠
p.Ala80Ser Single submitter ⚠
p.Arg1055Lys Single submitter ⚠
p.Arg251Trp Single submitter ⚠
p.Arg365His Single submitter ⚠
p.Arg376Cys Single submitter ⚠
p.Arg599Trp Single submitter ⚠
p.Arg611Trp Single submitter ⚠
p.Arg694Trp Single submitter ⚠
p.Asn1009Ser Single submitter ⚠
p.Asn111Asp Single submitter ⚠
p.Asn144Asp Single submitter ⚠
p.Asn144Ser Single submitter ⚠
p.Asn158Asp Single submitter ⚠
p.Asn672Ser Single submitter ⚠
p.Asn714Ser Single submitter ⚠
p.Asn742Asp Single submitter ⚠
p.Asn742Lys Single submitter ⚠
p.Asp1075Asn Single submitter ⚠
p.Asp110Gly Single submitter ⚠
p.Asp139Gly Single submitter ⚠
p.Asp20Gly Single submitter ⚠
p.Asp244His Single submitter ⚠
p.Asp244Val Single submitter ⚠
p.Asp288Tyr Single submitter ⚠
p.Asp497Gly Single submitter ⚠
p.Asp57Ala Single submitter ⚠
p.Asp689Gly Single submitter ⚠
p.Asp771Val Single submitter ⚠
p.Gln1099Arg Single submitter ⚠
p.Gln1203Ter Single submitter Neurodevelopmental delay
p.Gln204Glu Single submitter ⚠
p.Gln427Glu Single submitter ⚠
p.Gln429Arg Single submitter ⚠
p.Gln657Arg Single submitter ⚠
p.Gln681Arg Single submitter ⚠
p.Glu1142Gln Single submitter ⚠
p.Glu165Gly Single submitter ⚠
p.Glu213Gly Single submitter ⚠
p.Glu239Ala Single submitter ⚠
p.Glu255Lys Single submitter ⚠
p.Glu379Lys Single submitter ⚠
p.Glu394Gln Single submitter ⚠
p.Glu396Gly Single submitter ⚠
p.Glu420Lys Single submitter ⚠
p.Glu482Ala Single submitter ⚠
p.Glu482Gln Single submitter ⚠
p.Glu534Asp Single submitter ⚠
p.Glu545Gly Single submitter ⚠
p.Glu564Lys Single submitter ⚠
p.Glu572Gly Single submitter ⚠
p.Gly209Val Single submitter ⚠
p.Gly559Ser Single submitter ⚠
p.Gly659Ser Single submitter ⚠
p.His965Tyr Single submitter ⚠
p.Ile1101Val Single submitter ⚠
p.Ile454Met Single submitter ⚠
p.Ile741Val Single submitter ⚠
p.Ile795Val Single submitter ⚠
p.Ile873Val Single submitter ⚠
p.Ile897Phe Single submitter ⚠
p.Leu19Phe Single submitter ⚠
p.Leu253Pro Single submitter ⚠
p.Leu425Pro Single submitter ⚠
p.Leu65Met Single submitter ⚠
p.Leu866Val Single submitter
p.Leu942Val Single submitter ⚠
p.Lys1185Thr Single submitter ⚠
p.Lys119Glu Single submitter ⚠
p.Lys148Ile Single submitter ⚠
p.Lys263Arg Single submitter ⚠
p.Lys313Arg Single submitter ⚠
p.Lys321Arg Single submitter ⚠
p.Lys342Arg Single submitter ⚠
p.Lys359Asn Single submitter ⚠
p.Lys610Glu Single submitter ⚠
p.Lys757Arg Single submitter ⚠
p.Lys8Asn Single submitter ⚠
p.Lys975Ile Single submitter ⚠
p.Met1019Thr Single submitter ⚠
p.Met467Leu Single submitter ⚠
p.Met509Ile Single submitter ⚠
p.Met869Leu Single submitter ⚠
p.Phe1132Cys Single submitter ⚠
p.Phe223Leu Single submitter ⚠
p.Pro302Leu Single submitter ⚠
p.Pro487Leu Single submitter ⚠
p.Pro489Ser Single submitter ⚠
p.Pro867Leu Single submitter ⚠
p.Ser1051Gly Single submitter ⚠
p.Ser1129Asn Single submitter ⚠
p.Ser113Gly Single submitter ⚠
p.Ser171Ile Single submitter ⚠
p.Ser222Ala Single submitter ⚠
p.Ser557Arg Single submitter ⚠
p.Ser560Arg Single submitter ⚠
p.Ser589Pro Single submitter ⚠
p.Ser770Cys Single submitter ⚠
p.Ser847Asn Single submitter ⚠
p.Thr126Ala Single submitter ⚠
p.Thr261Ile Single submitter ⚠
p.Thr286Asn Single submitter ⚠
p.Thr289Ser Single submitter ⚠
p.Thr422Ala Single submitter ⚠
p.Thr498Pro Single submitter ⚠
p.Tyr1005Phe Single submitter ⚠
p.Tyr809Phe Single submitter ⚠
p.Val1013Ala Single submitter ⚠
p.Val285Met Single submitter ⚠
p.Val473Ala Single submitter ⚠
p.Val569Met Single submitter ⚠
p.Val821Ile Single submitter ⚠