ECI2 — 30 ClinVar variants
All ClinVar germline ECI2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Benign · 5 Likely benign · 24 Uncertain significance
Full ECI2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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.
- ECI2 p.Ala67Thr Uncertain significance Single submitter
- ECI2 p.Ala67Val Uncertain significance Single submitter
- ECI2 p.Ala7Val Uncertain significance Single submitter
- ECI2 p.Leu371Arg Uncertain significance Single submitter
- ECI2 p.Leu68Pro Uncertain significance Single submitter
- ECI2 p.Lys70Glu Uncertain significance Single submitter
- ECI2 p.Met3Val Uncertain significance Single submitter
- ECI2 p.Pro16Arg Uncertain significance Single submitter
- ECI2 p.Pro16Thr Uncertain significance Single submitter
- ECI2 p.Pro25Arg Uncertain significance Single submitter
- ECI2 p.Pro25Leu Uncertain significance Single submitter
- ECI2 p.Ser101Asn Uncertain significance Single submitter
- ECI2 p.Tyr5Cys Uncertain significance Single submitter
- ECI2 p.Tyr5Ser Uncertain significance Single submitter
- ECI2 p.Val84Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ECI2 p.Ala11Pro Uncertain significance Single submitter
- ECI2 p.Ala95Thr Uncertain significance Single submitter
- ECI2 p.Arg157Trp Uncertain significance Single submitter
- ECI2 p.Cys15Tyr Uncertain significance Single submitter
- ECI2 p.Glu147Lys Uncertain significance Single submitter
- ECI2 p.Glu60Lys Uncertain significance Single submitter
- ECI2 p.Leu52Phe Uncertain significance Single submitter
- ECI2 p.Lys81Thr Uncertain significance Single submitter
- ECI2 p.Pro279Leu Uncertain significance Single submitter
All ECI2 variants
Benign 1
- c.51-8A>G Single submitter
Likely benign 5
- p.Arg12Gln Single submitter
- p.Met31Leu Single submitter
- p.Met31Val Single submitter
- p.Met47Val Single submitter
- p.Ser146= Single submitter
Uncertain significance 24
- p.Ala11Pro Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Ala95Thr Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Cys15Tyr Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Leu371Arg Single submitter ⚠
- p.Leu52Phe Single submitter ⚠
- p.Leu68Pro Single submitter ⚠
- p.Lys70Glu Single submitter ⚠
- p.Lys81Thr Single submitter ⚠
- p.Met3Val Single submitter ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro16Thr Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro279Leu Single submitter ⚠
- p.Ser101Asn Single submitter ⚠
- p.Tyr5Cys Single submitter ⚠
- p.Tyr5Ser Single submitter ⚠
- p.Val84Ile Single submitter ⚠