EID1 — 30 ClinVar variants
All ClinVar germline EID1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 28 Uncertain significance
Full EID1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EID1 p.Ala127Val Uncertain significance Single submitter
- EID1 p.Ala5Thr Uncertain significance Single submitter
- EID1 p.Ala81Thr Uncertain significance Single submitter
- EID1 p.Arg186Gly Uncertain significance Single submitter
- EID1 p.Arg73Trp Uncertain significance Single submitter
- EID1 p.Asn172Ser Uncertain significance Single submitter
- EID1 p.Asn80Lys Uncertain significance Single submitter
- EID1 p.Asp92Glu Uncertain significance Single submitter
- EID1 p.Gln51Arg Uncertain significance Single submitter
- EID1 p.Glu129Gln Uncertain significance Single submitter
- EID1 p.Glu13Gln Uncertain significance Single submitter
- EID1 p.Glu39Asp Uncertain significance Single submitter
- EID1 p.Glu61Asp Uncertain significance Single submitter
- EID1 p.Glu62Lys Uncertain significance Single submitter
- EID1 p.Leu17Val Uncertain significance Single submitter
- EID1 p.Lys133Arg Uncertain significance Single submitter
- EID1 p.Met66Ile Uncertain significance Single submitter
- EID1 p.Pro112Thr Uncertain significance Single submitter
- EID1 p.Pro57Arg Uncertain significance Single submitter
- EID1 p.Pro65Leu Uncertain significance Single submitter
- EID1 p.Tyr122Asn Uncertain significance Single submitter
- EID1 p.Tyr151His Uncertain significance Single submitter
- EID1 p.Val170Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EID1 variants
Likely benign 2
- p.Gln50Pro Single submitter
- p.Ser47Asn Single submitter
Uncertain significance 28
- p.Ala127Val Single submitter ⚠
- p.Ala131Pro Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg73Trp Single submitter ⚠
- p.Asn172Ser Single submitter ⚠
- p.Asn80Lys Single submitter ⚠
- p.Asp92Glu Single submitter ⚠
- p.Gln51Arg Single submitter ⚠
- p.Glu129Gln Single submitter ⚠
- p.Glu13Gln Single submitter ⚠
- p.Glu39Asp Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Glu62Lys Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Lys133Arg Single submitter ⚠
- p.Met149Ile Single submitter ⚠
- p.Met22Thr Single submitter ⚠
- p.Met4Thr Single submitter ⚠
- p.Met66Ile Single submitter ⚠
- p.Pro112Thr Single submitter ⚠
- p.Pro57Arg Single submitter ⚠
- p.Pro65Leu Single submitter ⚠
- p.Tyr122Asn Single submitter ⚠
- p.Tyr151His Single submitter ⚠
- p.Val170Ile Single submitter ⚠