E2F3 — 43 ClinVar variants
All ClinVar germline E2F3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
2 Benign · 2 Likely benign · 39 Uncertain significance
Full E2F3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- E2F3 p.Ala404Ser Uncertain significance Single submitter
- E2F3 p.Ala450Gly Uncertain significance Single submitter
- E2F3 p.Ala8Ser Uncertain significance Single submitter
- E2F3 p.Arg121Cys Uncertain significance Single submitter
- E2F3 p.Arg305Gln Uncertain significance Single submitter
- E2F3 p.Asn369Asp Uncertain significance Single submitter
- E2F3 p.Asn396His Uncertain significance Single submitter
- E2F3 p.Asn424Asp Uncertain significance Single submitter
- E2F3 p.Asp452Tyr Uncertain significance Single submitter
- E2F3 p.Cys464Gly Uncertain significance Single submitter
- E2F3 p.Gln6His Uncertain significance Single submitter
- E2F3 p.Glu209Asp Uncertain significance Single submitter
- E2F3 p.Glu292Asp Uncertain significance Single submitter
- E2F3 p.Glu441Gly Uncertain significance Single submitter
- E2F3 p.Gly111Arg Uncertain significance Single submitter
- E2F3 p.His104Gln Uncertain significance Single submitter
- E2F3 p.His338Arg Uncertain significance Single submitter
- E2F3 p.Ile304Met Uncertain significance Single submitter
- E2F3 p.Ile307Ser Uncertain significance Single submitter
- E2F3 p.Leu350Ile Uncertain significance Single submitter
- E2F3 p.Leu458Val Uncertain significance Single submitter
- E2F3 p.Lys378Ile Uncertain significance Single submitter
- E2F3 p.Met33Val Uncertain significance Single submitter
- E2F3 p.Met463Leu Uncertain significance Single submitter
- E2F3 p.Pro421Leu Uncertain significance Single submitter
- E2F3 p.Pro427Arg Uncertain significance Single submitter
- E2F3 p.Ser182Phe Uncertain significance Single submitter
- E2F3 p.Ser334Asn Uncertain significance Single submitter
- E2F3 p.Ser69Thr Uncertain significance Single submitter
- E2F3 p.Thr342Ala Uncertain significance Single submitter
- E2F3 p.Thr62Ser Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- E2F3 p.Asp446Glu Uncertain significance Single submitter
- E2F3 p.Asp452Asn Uncertain significance Single submitter
- E2F3 p.Gly18Asp Uncertain significance Single submitter
- E2F3 p.Pro54Gln Uncertain significance Single submitter
- E2F3 p.Ser245Arg Uncertain significance Single submitter
- E2F3 p.Ser32Cys Uncertain significance Single submitter
- E2F3 p.Thr152Ser Uncertain significance Single submitter
- E2F3 p.Val79Ile Uncertain significance Single submitter
All E2F3 variants
Benign 2
- p.Asp389Asn Multiple submitters
- p.Pro116Leu Single submitter
Likely benign 2
- p.Arg295= Single submitter
- p.Ala401Ser No assertion criteria E2F3-related disorder
Uncertain significance 39
- p.Ala404Ser Single submitter ⚠
- p.Ala450Gly Single submitter ⚠
- p.Ala8Ser Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Asn369Asp Single submitter ⚠
- p.Asn396His Single submitter ⚠
- p.Asn424Asp Single submitter ⚠
- p.Asp446Glu Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Asp452Tyr Single submitter ⚠
- p.Cys464Gly Single submitter ⚠
- p.Gln6His Single submitter ⚠
- p.Glu209Asp Single submitter ⚠
- p.Glu292Asp Single submitter ⚠
- p.Glu441Gly Single submitter ⚠
- p.Gly111Arg Single submitter ⚠
- p.Gly18Asp Single submitter ⚠
- p.His104Gln Single submitter ⚠
- p.His338Arg Single submitter ⚠
- p.Ile304Met Single submitter ⚠
- p.Ile307Ser Single submitter ⚠
- p.Leu350Ile Single submitter ⚠
- p.Leu458Val Single submitter ⚠
- p.Lys378Ile Single submitter ⚠
- p.Met33Val Single submitter ⚠
- p.Met463Leu Single submitter ⚠
- p.Pro421Leu Single submitter ⚠
- p.Pro427Arg Single submitter ⚠
- p.Pro54Gln Single submitter ⚠
- p.Ser182Phe Single submitter ⚠
- p.Ser245Arg Single submitter ⚠
- p.Ser32Cys Single submitter ⚠
- p.Ser334Asn Single submitter ⚠
- p.Ser69Thr Single submitter ⚠
- p.Thr152Ser Single submitter ⚠
- p.Thr342Ala Single submitter ⚠
- p.Thr62Ser Single submitter ⚠
- p.Val79Ile Single submitter ⚠