ECE2 — 73 ClinVar variants
All ClinVar germline ECE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
3 Benign · 6 Likely benign · 64 Uncertain significance
Full ECE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECE2 p.Ala338Val Uncertain significance Single submitter
- ECE2 p.Ala437Thr Uncertain significance Single submitter
- ECE2 p.Ala575Thr Uncertain significance Single submitter
- ECE2 p.Ala72Val Uncertain significance Single submitter
- ECE2 p.Arg112Gln Uncertain significance Single submitter
- ECE2 p.Arg130Gln Uncertain significance Single submitter
- ECE2 p.Arg138His Uncertain significance Single submitter
- ECE2 p.Arg467Trp Uncertain significance Single submitter
- ECE2 p.Arg713Cys Uncertain significance Single submitter
- ECE2 p.Arg733Cys Uncertain significance Single submitter
- ECE2 p.Arg746Gln Uncertain significance Single submitter
- ECE2 p.Asn270Lys Uncertain significance Single submitter
- ECE2 p.Asn592Lys Uncertain significance Single submitter
- ECE2 p.Asn655Lys Uncertain significance Single submitter
- ECE2 p.Asp212Gly Uncertain significance Single submitter
- ECE2 p.Asp321Asn Uncertain significance Single submitter
- ECE2 p.Gln84Arg Uncertain significance Single submitter
- ECE2 p.Gly127Asp Uncertain significance Single submitter
- ECE2 p.Gly443Val Uncertain significance Single submitter
- ECE2 p.Gly595Cys Uncertain significance Single submitter
- ECE2 p.Gly656Ser Uncertain significance Single submitter
- ECE2 p.Gly661Arg Uncertain significance Single submitter
- ECE2 p.Gly668Arg Uncertain significance Single submitter
- ECE2 p.Gly736Asp Uncertain significance Single submitter
- ECE2 p.Gly76Ser Uncertain significance Single submitter
- ECE2 p.Leu544Phe Uncertain significance Single submitter
- ECE2 p.Lys483Thr Uncertain significance Single submitter
- ECE2 p.Met217Thr Uncertain significance Single submitter
- ECE2 p.Phe705Ser Uncertain significance Single submitter
- ECE2 p.Pro210Ser Uncertain significance Single submitter
- ECE2 p.Ser549Arg Uncertain significance Single submitter
- ECE2 p.Ser629Thr Uncertain significance Single submitter
- ECE2 p.Ser711Leu Uncertain significance Single submitter
- ECE2 p.Tyr178His Uncertain significance Single submitter
- ECE2 p.Val219Ala Uncertain significance Single submitter
- ECE2 p.Val235Ile Uncertain significance Single submitter
- ECE2 p.Val273Met Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- ECE2 p.Ala638Gly Uncertain significance Single submitter
- ECE2 p.Arg130Trp Uncertain significance Single submitter
- ECE2 p.Arg228Trp Uncertain significance Single submitter
- ECE2 p.Arg379Cys Uncertain significance Single submitter
- ECE2 p.Arg379His Likely benign Single submitter
- ECE2 p.Arg379Leu Uncertain significance Single submitter
- ECE2 p.Arg453Leu Uncertain significance Single submitter
- ECE2 p.Arg545His Uncertain significance Single submitter
- ECE2 p.Arg622Gln Uncertain significance Single submitter
- ECE2 p.Arg622Trp Uncertain significance Single submitter
- ECE2 p.Arg657Cys Uncertain significance Single submitter
- ECE2 p.Arg731His Uncertain significance Single submitter
- ECE2 p.Arg746Trp Uncertain significance Single submitter
- ECE2 p.Asp452Asn Uncertain significance Single submitter
- ECE2 p.Asp725Asn Uncertain significance Single submitter
- ECE2 p.Gln658Glu Uncertain significance Single submitter
- ECE2 p.Glu118Lys Uncertain significance Single submitter
- ECE2 p.Glu472Ala Uncertain significance Single submitter
- ECE2 p.Glu522Asp Uncertain significance Single submitter
- ECE2 p.Gly651Ala Uncertain significance Single submitter
- ECE2 p.Gly82Arg Uncertain significance Single submitter
- ECE2 p.Leu591Val Uncertain significance Single submitter
- ECE2 p.Pro508Arg Uncertain significance Single submitter
- ECE2 p.Ser332Leu Uncertain significance Single submitter
- ECE2 p.Thr380Met Uncertain significance Single submitter
- ECE2 p.Thr637Met Uncertain significance Single submitter
- ECE2 p.Val572Ile Uncertain significance Single submitter
- ECE2 p.Val83Phe Uncertain significance Single submitter
All ECE2 variants
Benign 3
- p.Arg453Gln Multiple submitters
- p.Ser400= Multiple submitters
- p.Val248= Multiple submitters
Likely benign 6
- p.Arg291Gln Single submitter
- p.Arg379His Single submitter ⚠
- p.Gln172Arg Single submitter
- p.Glu662= Single submitter
- p.Gly749Ser Single submitter
- p.Thr434= Single submitter
Uncertain significance 64
- p.Ala338Val Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala575Thr Single submitter ⚠
- p.Ala638Gly Single submitter ⚠
- p.Ala72Val Single submitter ⚠
- p.Arg112Gln Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg228Trp Single submitter ⚠
- p.Arg379Cys Single submitter ⚠
- p.Arg379Leu Single submitter ⚠
- p.Arg453Leu Single submitter ⚠
- p.Arg467Trp Single submitter ⚠
- p.Arg545His Single submitter ⚠
- p.Arg622Gln Single submitter ⚠
- p.Arg622Trp Single submitter ⚠
- p.Arg657Cys Single submitter ⚠
- p.Arg713Cys Single submitter ⚠
- p.Arg731His Single submitter ⚠
- p.Arg733Cys Single submitter ⚠
- p.Arg746Gln Single submitter ⚠
- p.Arg746Trp Single submitter ⚠
- p.Asn270Lys Single submitter ⚠
- p.Asn592Lys Single submitter ⚠
- p.Asn655Lys Single submitter ⚠
- p.Asp212Gly Single submitter ⚠
- p.Asp321Asn Single submitter ⚠
- p.Asp452Asn Single submitter ⚠
- p.Asp725Asn Single submitter ⚠
- p.Gln658Glu Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu118Lys Single submitter ⚠
- p.Glu472Ala Single submitter ⚠
- p.Glu522Asp Single submitter ⚠
- p.Gly127Asp Single submitter ⚠
- p.Gly443Val Single submitter ⚠
- p.Gly595Cys Single submitter ⚠
- p.Gly651Ala Single submitter ⚠
- p.Gly656Ser Single submitter ⚠
- p.Gly661Arg Single submitter ⚠
- p.Gly668Arg Single submitter ⚠
- p.Gly736Asp Single submitter ⚠
- p.Gly76Ser Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.Leu544Phe Single submitter ⚠
- p.Leu591Val Single submitter ⚠
- p.Lys483Thr Single submitter ⚠
- p.Met217Thr Single submitter ⚠
- p.Phe705Ser Single submitter ⚠
- p.Pro210Ser Single submitter ⚠
- p.Pro508Arg Single submitter ⚠
- p.Ser332Leu Single submitter ⚠
- p.Ser549Arg Single submitter ⚠
- p.Ser629Thr Single submitter ⚠
- p.Ser711Leu Single submitter ⚠
- p.Thr380Met Single submitter ⚠
- p.Thr637Met Single submitter ⚠
- p.Tyr178His Single submitter ⚠
- p.Val219Ala Single submitter ⚠
- p.Val235Ile Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val572Ile Single submitter ⚠
- p.Val83Phe Single submitter ⚠