EDEM2 — 77 ClinVar variants
All ClinVar germline EDEM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
1 Benign · 2 Likely benign · 74 Uncertain significance
Full EDEM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDEM2 p.Ala251Thr Uncertain significance Single submitter
- EDEM2 p.Ala529Glu Uncertain significance Single submitter
- EDEM2 p.Ala81Thr Uncertain significance Single submitter
- EDEM2 p.Arg364Gln Uncertain significance Single submitter
- EDEM2 p.Arg424Cys Uncertain significance Single submitter
- EDEM2 p.Arg4Leu Uncertain significance Single submitter
- EDEM2 p.Arg512Ser Uncertain significance Single submitter
- EDEM2 p.Asn354Lys Uncertain significance Single submitter
- EDEM2 p.Asp106Asn Uncertain significance Single submitter
- EDEM2 p.Asp26Glu Uncertain significance Single submitter
- EDEM2 p.Asp442Glu Uncertain significance Single submitter
- EDEM2 p.Asp455Asn Uncertain significance Single submitter
- EDEM2 p.Asp58His Uncertain significance Single submitter
- EDEM2 p.Cys13Phe Uncertain significance Single submitter
- EDEM2 p.Cys191Tyr Uncertain significance Single submitter
- EDEM2 p.Cys464Tyr Uncertain significance Single submitter
- EDEM2 p.Glu351Asp Uncertain significance Single submitter
- EDEM2 p.Glu362Gln Uncertain significance Single submitter
- EDEM2 p.Gly174Val Uncertain significance Single submitter
- EDEM2 p.Gly236Ser Uncertain significance Single submitter
- EDEM2 p.Gly348Arg Uncertain significance Single submitter
- EDEM2 p.Ile326Met Uncertain significance Single submitter
- EDEM2 p.Ile326Thr Uncertain significance Single submitter
- EDEM2 p.Ile374Thr Uncertain significance Single submitter
- EDEM2 p.Ile472Thr Uncertain significance Single submitter
- EDEM2 p.Ile87Thr Uncertain significance Single submitter
- EDEM2 p.Leu555Phe Uncertain significance Single submitter
- EDEM2 p.Met171Val Uncertain significance Single submitter
- EDEM2 p.Met277Leu Uncertain significance Single submitter
- EDEM2 p.Met378Thr Uncertain significance Single submitter
- EDEM2 p.Met502Ile Uncertain significance Single submitter
- EDEM2 p.Phe446Leu Uncertain significance Single submitter
- EDEM2 p.Pro25Ala Uncertain significance Single submitter
- EDEM2 p.Pro356Ala Uncertain significance Single submitter
- EDEM2 p.Pro531Leu Uncertain significance Single submitter
- EDEM2 p.Pro531Ser Uncertain significance Single submitter
- EDEM2 p.Pro56Ser Uncertain significance Single submitter
- EDEM2 p.Ser114Cys Uncertain significance Single submitter
- EDEM2 p.Ser206Arg Uncertain significance Single submitter
- EDEM2 p.Ser507Thr Uncertain significance Single submitter
- EDEM2 p.Thr118Ala Uncertain significance Single submitter
- EDEM2 p.Thr169Pro Uncertain significance Single submitter
- EDEM2 p.Thr306Ile Uncertain significance Single submitter
- EDEM2 p.Thr388Ile Uncertain significance Single submitter
- EDEM2 p.Trp343Arg Uncertain significance Single submitter
- EDEM2 p.Tyr461Cys Uncertain significance Single submitter
- EDEM2 p.Val220Gly Uncertain significance Single submitter
-
EDEM2 p.Arg424His
Uncertain significance
No assertion criteria
maturity-onset diabetes of the young
Predictors split 26
The independent predictors disagree with each other — read with care.
- EDEM2 p.Ala484Thr Uncertain significance Single submitter
- EDEM2 p.Arg219Thr Uncertain significance Single submitter
- EDEM2 p.Arg224Cys Uncertain significance Single submitter
- EDEM2 p.Arg224His Uncertain significance Single submitter
- EDEM2 p.Arg229Gln Uncertain significance Single submitter
- EDEM2 p.Arg292Cys Uncertain significance Single submitter
- EDEM2 p.Arg382His Uncertain significance Single submitter
- EDEM2 p.Asn474Ser Uncertain significance Single submitter
- EDEM2 p.Asp211Glu Uncertain significance Single submitter
- EDEM2 p.Asp31Val Uncertain significance Single submitter
- EDEM2 p.Gly185Glu Uncertain significance Single submitter
- EDEM2 p.His34Asn Uncertain significance Single submitter
- EDEM2 p.Ile195Met Uncertain significance Single submitter
- EDEM2 p.Ile232Met Uncertain significance Single submitter
- EDEM2 p.Lys134Met Uncertain significance Single submitter
- EDEM2 p.Met277Ile Uncertain significance Single submitter
- EDEM2 p.Pro184Thr Uncertain significance Single submitter
- EDEM2 p.Pro212Leu Uncertain significance Single submitter
- EDEM2 p.Pro460Arg Uncertain significance Single submitter
- EDEM2 p.Ser147Phe Uncertain significance Single submitter
- EDEM2 p.Ser507Ala Uncertain significance Single submitter
- EDEM2 p.Val105Ala Uncertain significance Single submitter
- EDEM2 p.Val111Met Uncertain significance Single submitter
- EDEM2 p.Val140Gly Uncertain significance Single submitter
- EDEM2 p.Val247Ala Uncertain significance Single submitter
- EDEM2 p.Val257Met Uncertain significance Single submitter
All EDEM2 variants
Benign 1
- p.Arg424= Single submitter
Likely benign 2
- p.Ala529Thr Single submitter
- p.Arg546Lys Single submitter
Uncertain significance 74
- p.Ala251Thr Single submitter ⚠
- p.Ala484Thr Single submitter ⚠
- p.Ala529Glu Single submitter ⚠
- p.Ala81Thr Single submitter ⚠
- p.Arg219Thr Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg229Gln Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg382His Single submitter ⚠
- p.Arg424Cys Single submitter ⚠
- p.Arg4Leu Single submitter ⚠
- p.Arg512Ser Single submitter ⚠
- p.Asn354Lys Single submitter ⚠
- p.Asn474Ser Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp211Glu Single submitter ⚠
- p.Asp26Glu Single submitter ⚠
- p.Asp31Val Single submitter ⚠
- p.Asp442Glu Single submitter ⚠
- p.Asp455Asn Single submitter ⚠
- p.Asp58His Single submitter ⚠
- p.Cys13Phe Single submitter ⚠
- p.Cys191Tyr Single submitter ⚠
- p.Cys464Tyr Single submitter ⚠
- p.Glu351Asp Single submitter ⚠
- p.Glu362Gln Single submitter ⚠
- p.Gly174Val Single submitter ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.His34Asn Single submitter ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile232Met Single submitter ⚠
- p.Ile326Met Single submitter ⚠
- p.Ile326Thr Single submitter ⚠
- p.Ile374Thr Single submitter ⚠
- p.Ile472Thr Single submitter ⚠
- p.Ile87Thr Single submitter ⚠
- p.Leu555Phe Single submitter ⚠
- p.Lys134Met Single submitter ⚠
- p.Met171Val Single submitter ⚠
- p.Met277Ile Single submitter ⚠
- p.Met277Leu Single submitter ⚠
- p.Met378Thr Single submitter ⚠
- p.Met502Ile Single submitter ⚠
- p.Phe446Leu Single submitter ⚠
- p.Pro184Thr Single submitter ⚠
- p.Pro212Leu Single submitter ⚠
- p.Pro25Ala Single submitter ⚠
- p.Pro356Ala Single submitter ⚠
- p.Pro460Arg Single submitter ⚠
- p.Pro531Leu Single submitter ⚠
- p.Pro531Ser Single submitter ⚠
- p.Pro56Ser Single submitter ⚠
- p.Ser114Cys Single submitter ⚠
- p.Ser147Phe Single submitter ⚠
- p.Ser206Arg Single submitter ⚠
- p.Ser507Ala Single submitter ⚠
- p.Ser507Thr Single submitter ⚠
- p.Thr118Ala Single submitter ⚠
- p.Thr169Pro Single submitter ⚠
- p.Thr306Ile Single submitter ⚠
- p.Thr388Ile Single submitter ⚠
- p.Trp343Arg Single submitter ⚠
- p.Tyr461Cys Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val111Met Single submitter ⚠
- p.Val140Gly Single submitter ⚠
- p.Val220Gly Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val257Met Single submitter ⚠
- p.Arg424His No assertion criteria maturity-onset diabetes of the young ⚠