EID2 — 31 ClinVar variants
All ClinVar germline EID2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Likely benign · 30 Uncertain significance
Full EID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EID2 p.Arg128Gly Uncertain significance Single submitter
- EID2 p.Arg29Ser Uncertain significance Single submitter
- EID2 p.Glu33Gly Uncertain significance Single submitter
- EID2 p.Gly120Ser Uncertain significance Single submitter
- EID2 p.Gly123Val Uncertain significance Single submitter
- EID2 p.Gly133Ser Uncertain significance Single submitter
- EID2 p.Gly28Asp Uncertain significance Single submitter
- EID2 p.Gly30Arg Uncertain significance Single submitter
- EID2 p.Gly76Arg Uncertain significance Single submitter
- EID2 p.Ile166Val Uncertain significance Single submitter
- EID2 p.Leu134Val Uncertain significance Single submitter
- EID2 p.Pro115Ala Uncertain significance Single submitter
- EID2 p.Ser9Arg Uncertain significance Single submitter
- EID2 p.Thr13Pro Uncertain significance Single submitter
- EID2 p.Val116Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- EID2 p.Ala135Val Uncertain significance Single submitter
- EID2 p.Ala187Thr Uncertain significance Single submitter
- EID2 p.Ala194Gly Uncertain significance Single submitter
- EID2 p.Ala49Val Uncertain significance Single submitter
- EID2 p.Ala50Thr Uncertain significance Single submitter
- EID2 p.Ala77Val Uncertain significance Single submitter
- EID2 p.Arg110Pro Uncertain significance Single submitter
- EID2 p.Arg128Thr Uncertain significance Single submitter
- EID2 p.Arg51Gly Uncertain significance Single submitter
- EID2 p.Gly18Ser Uncertain significance Single submitter
- EID2 p.Met63Ile Uncertain significance Single submitter
- EID2 p.Pro222Ser Uncertain significance Single submitter
- EID2 p.Pro56Arg Uncertain significance Single submitter
- EID2 p.Pro56Gln Uncertain significance Single submitter
- EID2 p.Val108Phe Uncertain significance Single submitter
All EID2 variants
Likely benign 1
- p.Gly43Arg Single submitter
Uncertain significance 30
- p.Ala135Val Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Ala194Gly Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala50Thr Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Arg110Pro Single submitter ⚠
- p.Arg128Gly Single submitter ⚠
- p.Arg128Thr Single submitter ⚠
- p.Arg29Ser Single submitter ⚠
- p.Arg51Gly Single submitter ⚠
- p.Glu33Gly Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly123Val Single submitter ⚠
- p.Gly133Ser Single submitter ⚠
- p.Gly18Ser Single submitter ⚠
- p.Gly28Asp Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly76Arg Single submitter ⚠
- p.Ile166Val Single submitter ⚠
- p.Leu134Val Single submitter ⚠
- p.Met63Ile Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro222Ser Single submitter ⚠
- p.Pro56Arg Single submitter ⚠
- p.Pro56Gln Single submitter ⚠
- p.Ser9Arg Single submitter ⚠
- p.Thr13Pro Single submitter ⚠
- p.Val108Phe Single submitter ⚠
- p.Val116Leu Single submitter ⚠