ECI1 — 81 ClinVar variants
All ClinVar germline ECI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
3 Benign · 5 Likely benign · 73 Uncertain significance
Full ECI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECI1 p.Ala119Thr Uncertain significance Single submitter
- ECI1 p.Ala185Ser Uncertain significance Single submitter
- ECI1 p.Ala19Ser Uncertain significance Single submitter
- ECI1 p.Ala201Val Uncertain significance Single submitter
- ECI1 p.Ala2Val Uncertain significance Single submitter
- ECI1 p.Ala32Thr Uncertain significance Single submitter
- ECI1 p.Arg134Gln Uncertain significance Single submitter
- ECI1 p.Arg164Gly Uncertain significance Single submitter
- ECI1 p.Arg16Cys Uncertain significance Single submitter
- ECI1 p.Arg20Gly Uncertain significance Single submitter
- ECI1 p.Arg251Gln Uncertain significance Single submitter
- ECI1 p.Arg259Gln Uncertain significance Single submitter
- ECI1 p.Arg265His Uncertain significance Single submitter
- ECI1 p.Arg270His Uncertain significance Single submitter
- ECI1 p.Arg8Gly Uncertain significance Single submitter
- ECI1 p.Arg92Cys Uncertain significance Single submitter
- ECI1 p.Arg92Pro Uncertain significance Single submitter
- ECI1 p.Asp273Gly Uncertain significance Single submitter
- ECI1 p.Cys114Tyr Uncertain significance Single submitter
- ECI1 p.Gln219His Uncertain significance Single submitter
- ECI1 p.Gln275Arg Uncertain significance Single submitter
- ECI1 p.Gln291His Uncertain significance Single submitter
- ECI1 p.Glu112Lys Uncertain significance Single submitter
- ECI1 p.Glu194Lys Uncertain significance Single submitter
- ECI1 p.Glu300Gly Uncertain significance Single submitter
- ECI1 p.Gly198Arg Uncertain significance Single submitter
- ECI1 p.Gly221Ala Uncertain significance Single submitter
- ECI1 p.Gly35Ser Uncertain significance Single submitter
- ECI1 p.Ile286Val Uncertain significance Single submitter
- ECI1 p.Leu14Pro Uncertain significance Single submitter
- ECI1 p.Leu208Pro Uncertain significance Single submitter
- ECI1 p.Leu210Val Uncertain significance Single submitter
- ECI1 p.Leu3Val Uncertain significance Single submitter
- ECI1 p.Leu96Pro Uncertain significance Single submitter
- ECI1 p.Lys126Asn Uncertain significance Single submitter
- ECI1 p.Met257Leu Uncertain significance Single submitter
- ECI1 p.Pro10Ala Uncertain significance Single submitter
- ECI1 p.Pro213Leu Uncertain significance Single submitter
- ECI1 p.Pro214Leu Uncertain significance Single submitter
- ECI1 p.Pro214Ser Uncertain significance Single submitter
- ECI1 p.Pro22Gln Uncertain significance Single submitter
- ECI1 p.Pro22Leu Uncertain significance Single submitter
- ECI1 p.Pro51Arg Uncertain significance Single submitter
- ECI1 p.Ser105Leu Uncertain significance Single submitter
- ECI1 p.Ser98Leu Uncertain significance Single submitter
- ECI1 p.Thr111Met Uncertain significance Single submitter
- ECI1 p.Thr192Ile Uncertain significance Single submitter
- ECI1 p.Thr254Ser Uncertain significance Single submitter
- ECI1 p.Thr262Met Uncertain significance Single submitter
- ECI1 p.Val128Ile Uncertain significance Single submitter
- ECI1 p.Val278Ile Uncertain significance Single submitter
- ECI1 p.Val59Leu Uncertain significance Single submitter
- ECI1 p.Val59Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ECI1 p.Arg134Trp Uncertain significance Single submitter
- ECI1 p.Arg265Cys Uncertain significance Single submitter
- ECI1 p.Arg265Leu Uncertain significance Single submitter
- ECI1 p.Arg265Ser Uncertain significance Single submitter
- ECI1 p.Asn64Lys Uncertain significance Single submitter
- ECI1 p.Asp284Val Uncertain significance Single submitter
- ECI1 p.Leu208Met Uncertain significance Single submitter
- ECI1 p.Leu48Arg Uncertain significance Single submitter
- ECI1 p.Pro101Leu Uncertain significance Single submitter
- ECI1 p.Pro228Ala Uncertain significance Single submitter
- ECI1 p.Pro228Leu Uncertain significance Single submitter
- ECI1 p.Tyr121His Uncertain significance Single submitter
- ECI1 p.Val274Met Uncertain significance Single submitter
All ECI1 variants
Benign 3
- p.Thr76Met Multiple submitters Complex I deficiency
- c.294+9T>C Single submitter
- p.Arg16= Single submitter
Likely benign 5
- p.Ala263= Single submitter
- p.Arg100His Single submitter
- p.Arg92= Single submitter
- p.Ile184Val Single submitter
- p.Val4Ala Single submitter
Uncertain significance 73
- p.Ala119Thr Single submitter ⚠
- p.Ala185Ser Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala202Val Single submitter
- p.Ala2Val Single submitter ⚠
- p.Ala32Thr Single submitter ⚠
- p.Arg134Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg164Gly Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg259Gln Single submitter ⚠
- p.Arg265Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg265Leu Single submitter ⚠
- p.Arg265Ser Single submitter ⚠
- p.Arg270Cys Single submitter
- p.Arg270His Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Arg92Pro Single submitter ⚠
- p.Asn139Ile Single submitter
- p.Asn64Lys Single submitter ⚠
- p.Asp273Gly Single submitter ⚠
- p.Asp284Val Single submitter ⚠
- p.Cys114Tyr Single submitter ⚠
- p.Gln219His Single submitter ⚠
- p.Gln275Arg Single submitter ⚠
- p.Gln287Glu Single submitter
- p.Gln291His Single submitter ⚠
- p.Glu112Lys Single submitter ⚠
- p.Glu194Lys Single submitter ⚠
- p.Glu300Gly Single submitter ⚠
- p.Gly102fs Single submitter
- p.Gly198Arg Single submitter ⚠
- p.Gly221Ala Single submitter ⚠
- p.Gly35Ser Single submitter ⚠
- p.Ile197Phe Single submitter
- p.Ile240Thr Single submitter
- p.Ile286Val Single submitter ⚠
- p.Leu14Pro Single submitter ⚠
- p.Leu208Met Single submitter ⚠
- p.Leu208Pro Single submitter ⚠
- p.Leu210Val Single submitter ⚠
- p.Leu3Val Single submitter ⚠
- p.Leu48Arg Single submitter ⚠
- p.Leu96Pro Single submitter ⚠
- p.Lys126Asn Single submitter ⚠
- p.Met257Leu Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro10Ala Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro214Leu Single submitter ⚠
- p.Pro214Ser Single submitter ⚠
- p.Pro228Ala Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro22Gln Single submitter ⚠
- p.Pro22Leu Single submitter ⚠
- p.Pro51Arg Single submitter ⚠
- p.Ser105Leu Single submitter ⚠
- p.Ser98Leu Single submitter ⚠
- p.Thr111Met Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr254Ser Single submitter ⚠
- p.Thr262Met Single submitter ⚠
- p.Tyr121His Single submitter ⚠
- p.Val128Ile Single submitter ⚠
- p.Val274Met Single submitter ⚠
- p.Val278Ile Single submitter ⚠
- p.Val59Leu Single submitter ⚠
- p.Val59Met Single submitter ⚠