EID2B — 26 ClinVar variants
All ClinVar germline EID2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
2 Likely benign · 24 Uncertain significance
Full EID2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EID2B p.Ala143Ser Uncertain significance Single submitter
- EID2B p.Ala45Thr Uncertain significance Single submitter
- EID2B p.Ala45Val Uncertain significance Single submitter
- EID2B p.Gln84Arg Uncertain significance Single submitter
- EID2B p.His82Tyr Uncertain significance Single submitter
- EID2B p.Met105Val Uncertain significance Single submitter
- EID2B p.Met139Val Uncertain significance Single submitter
- EID2B p.Pro79Ser Uncertain significance Single submitter
- EID2B p.Pro81Ala Uncertain significance Single submitter
- EID2B p.Val31Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- EID2B p.Ala131Val Uncertain significance Single submitter
- EID2B p.Ala134Thr Uncertain significance Single submitter
- EID2B p.Arg119Lys Uncertain significance Single submitter
- EID2B p.Gln83Pro Uncertain significance Single submitter
- EID2B p.Glu123Val Uncertain significance Single submitter
- EID2B p.Glu44Lys Uncertain significance Single submitter
- EID2B p.Gly48Cys Uncertain significance Single submitter
- EID2B p.Ile106Asn Uncertain significance Single submitter
- EID2B p.Met10Thr Uncertain significance Single submitter
- EID2B p.Phe96Ile Uncertain significance Single submitter
- EID2B p.Phe96Leu Likely benign Single submitter
- EID2B p.Pro107Ser Uncertain significance Single submitter
- EID2B p.Pro136Ala Uncertain significance Single submitter
- EID2B p.Pro65Leu Uncertain significance Single submitter
- EID2B p.Ser11Tyr Uncertain significance Single submitter
All EID2B variants
Likely benign 2
- p.Phe96Leu Single submitter ⚠
- p.Ser157Asn Single submitter
Uncertain significance 24
- p.Ala131Val Single submitter ⚠
- p.Ala134Thr Single submitter ⚠
- p.Ala143Ser Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala45Val Single submitter ⚠
- p.Arg119Lys Single submitter ⚠
- p.Gln83Pro Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu123Val Single submitter ⚠
- p.Glu44Lys Single submitter ⚠
- p.Gly48Cys Single submitter ⚠
- p.His82Tyr Single submitter ⚠
- p.Ile106Asn Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Met10Thr Single submitter ⚠
- p.Met139Val Single submitter ⚠
- p.Phe96Ile Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro136Ala Single submitter ⚠
- p.Pro65Leu Single submitter ⚠
- p.Pro79Ser Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Ser11Tyr Single submitter ⚠
- p.Val31Leu Single submitter ⚠