EIF2D — 72 ClinVar variants
All ClinVar germline EIF2D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
5 Likely benign · 67 Uncertain significance
Full EIF2D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF2D p.Ala150Val Uncertain significance Single submitter
- EIF2D p.Ala24Thr Uncertain significance Single submitter
- EIF2D p.Ala499Val Uncertain significance Single submitter
- EIF2D p.Arg20Ser Uncertain significance Single submitter
- EIF2D p.Arg508Gln Uncertain significance Single submitter
- EIF2D p.Asp197Val Uncertain significance Single submitter
- EIF2D p.Asp214Asn Uncertain significance Single submitter
- EIF2D p.Asp441Gly Uncertain significance Single submitter
- EIF2D p.Cys300Arg Uncertain significance Single submitter
- EIF2D p.Gln212Leu Uncertain significance Single submitter
- EIF2D p.Gln325Arg Uncertain significance Single submitter
- EIF2D p.Gln449Arg Uncertain significance Single submitter
- EIF2D p.Glu223Lys Uncertain significance Single submitter
- EIF2D p.Gly34Glu Uncertain significance Single submitter
- EIF2D p.His450Arg Uncertain significance Single submitter
- EIF2D p.Ile416Val Uncertain significance Single submitter
- EIF2D p.Ile438Val Uncertain significance Single submitter
- EIF2D p.Ile482Thr Uncertain significance Single submitter
- EIF2D p.Leu238Arg Uncertain significance Single submitter
- EIF2D p.Leu250Gln Uncertain significance Single submitter
- EIF2D p.Leu444Ser Uncertain significance Single submitter
- EIF2D p.Leu578Phe Uncertain significance Single submitter
- EIF2D p.Lys77Arg Uncertain significance Single submitter
- EIF2D p.Met113Val Uncertain significance Single submitter
- EIF2D p.Met218Val Uncertain significance Single submitter
- EIF2D p.Met297Ile Uncertain significance Single submitter
- EIF2D p.Met391Val Uncertain significance Single submitter
- EIF2D p.Phe355Val Uncertain significance Single submitter
- EIF2D p.Pro358Ala Uncertain significance Single submitter
- EIF2D p.Pro362Leu Uncertain significance Single submitter
- EIF2D p.Pro375Ala Uncertain significance Single submitter
- EIF2D p.Ser295Asn Uncertain significance Single submitter
- EIF2D p.Ser361Thr Uncertain significance Single submitter
- EIF2D p.Thr12Ala Uncertain significance Single submitter
- EIF2D p.Val107Leu Uncertain significance Single submitter
- EIF2D p.Val506Met Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- EIF2D p.Ala149Ser Uncertain significance Single submitter
- EIF2D p.Arg527Gln Uncertain significance Single submitter
- EIF2D p.Arg7Trp Uncertain significance Single submitter
- EIF2D p.Gln126Leu Uncertain significance Single submitter
- EIF2D p.Glu104Lys Uncertain significance Single submitter
- EIF2D p.Glu303Lys Uncertain significance Single submitter
- EIF2D p.Gly108Arg Uncertain significance Single submitter
- EIF2D p.Gly403Arg Uncertain significance Single submitter
- EIF2D p.Gly478Arg Uncertain significance Single submitter
- EIF2D p.Leu124Pro Uncertain significance Single submitter
- EIF2D p.Leu124Val Uncertain significance Single submitter
- EIF2D p.Leu169Ile Uncertain significance Single submitter
- EIF2D p.Leu267Gln Uncertain significance Single submitter
- EIF2D p.Leu432Val Uncertain significance Single submitter
- EIF2D p.Leu544Arg Uncertain significance Single submitter
- EIF2D p.Leu561Ile Uncertain significance Single submitter
- EIF2D p.Leu561Phe Uncertain significance Single submitter
- EIF2D p.Lys311Asn Uncertain significance Single submitter
- EIF2D p.Lys421Glu Likely benign Single submitter
- EIF2D p.Lys4Arg Uncertain significance Single submitter
- EIF2D p.Met151Val Uncertain significance Single submitter
- EIF2D p.Pro350Leu Uncertain significance Single submitter
- EIF2D p.Pro538Ser Uncertain significance Single submitter
- EIF2D p.Ser183Cys Uncertain significance Single submitter
- EIF2D p.Ser299Phe Uncertain significance Single submitter
- EIF2D p.Thr259Met Uncertain significance Single submitter
- EIF2D p.Thr532Ile Uncertain significance Single submitter
- EIF2D p.Thr85Met Uncertain significance Single submitter
- EIF2D p.Thr97Ile Uncertain significance Single submitter
- EIF2D p.Trp457Arg Uncertain significance Single submitter
- EIF2D p.Tyr564Cys Uncertain significance Single submitter
- EIF2D p.Val411Ile Uncertain significance Single submitter
All EIF2D variants
Likely benign 5
- c.422+4C>T Single submitter
- p.Leu559= Single submitter
- p.Lys421Glu Single submitter ⚠
- p.Pro350= Single submitter
- p.Val415Ile Single submitter
Uncertain significance 67
- p.Ala149Ser Single submitter ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala499Val Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg508Gln Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg7Trp Single submitter ⚠
- p.Asp197Val Single submitter ⚠
- p.Asp214Asn Single submitter ⚠
- p.Asp441Gly Single submitter ⚠
- p.Cys300Arg Single submitter ⚠
- p.Gln126Leu Single submitter ⚠
- p.Gln212Leu Single submitter ⚠
- p.Gln325Arg Single submitter ⚠
- p.Gln449Arg Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu303Lys Single submitter ⚠
- p.Gly108Arg Single submitter ⚠
- p.Gly34Glu Single submitter ⚠
- p.Gly403Arg Single submitter ⚠
- p.Gly478Arg Single submitter ⚠
- p.His450Arg Single submitter ⚠
- p.Ile416Val Single submitter ⚠
- p.Ile438Val Single submitter ⚠
- p.Ile482Thr Single submitter ⚠
- p.Leu124Pro Single submitter ⚠
- p.Leu124Val Single submitter ⚠
- p.Leu169Ile Single submitter ⚠
- p.Leu238Arg Single submitter ⚠
- p.Leu250Gln Single submitter ⚠
- p.Leu267Gln Single submitter ⚠
- p.Leu432Val Single submitter ⚠
- p.Leu444Ser Single submitter ⚠
- p.Leu544Arg Single submitter ⚠
- p.Leu561Ile Single submitter ⚠
- p.Leu561Phe Single submitter ⚠
- p.Leu578Phe Single submitter ⚠
- p.Lys311Asn Single submitter ⚠
- p.Lys4Arg Single submitter ⚠
- p.Lys77Arg Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met151Val Single submitter ⚠
- p.Met218Val Single submitter ⚠
- p.Met297Ile Single submitter ⚠
- p.Met391Val Single submitter ⚠
- p.Phe355Val Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro358Ala Single submitter ⚠
- p.Pro362Leu Single submitter ⚠
- p.Pro375Ala Single submitter ⚠
- p.Pro538Ser Single submitter ⚠
- p.Ser183Cys Single submitter ⚠
- p.Ser295Asn Single submitter ⚠
- p.Ser299Phe Single submitter ⚠
- p.Ser361Thr Single submitter ⚠
- p.Thr12Ala Single submitter ⚠
- p.Thr259Met Single submitter ⚠
- p.Thr532Ile Single submitter ⚠
- p.Thr85Met Single submitter ⚠
- p.Thr97Ile Single submitter ⚠
- p.Trp457Arg Single submitter ⚠
- p.Tyr564Cys Single submitter ⚠
- p.Val107Leu Single submitter ⚠
- p.Val411Ile Single submitter ⚠
- p.Val506Met Single submitter ⚠