EDDM3B — 28 ClinVar variants
All ClinVar germline EDDM3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
2 Likely benign · 26 Uncertain significance
Full EDDM3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EDDM3B p.Arg88His Uncertain significance Single submitter
- EDDM3B p.Arg90Leu Uncertain significance Single submitter
- EDDM3B p.Asn109Lys Uncertain significance Single submitter
- EDDM3B p.Cys80Arg Uncertain significance Single submitter
- EDDM3B p.Glu108Lys Uncertain significance Single submitter
- EDDM3B p.Glu124Ala Uncertain significance Single submitter
- EDDM3B p.Glu27Lys Uncertain significance Single submitter
- EDDM3B p.Glu77Lys Uncertain significance Single submitter
- EDDM3B p.Gly131Arg Uncertain significance Single submitter
- EDDM3B p.Leu15Ile Uncertain significance Single submitter
- EDDM3B p.Phe33Leu Uncertain significance Single submitter
- EDDM3B p.Pro144Arg Uncertain significance Single submitter
- EDDM3B p.Pro144Leu Uncertain significance Single submitter
- EDDM3B p.Ser29Ala Uncertain significance Single submitter
- EDDM3B p.Thr10Ser Uncertain significance Single submitter
- EDDM3B p.Trp30Ser Uncertain significance Single submitter
- EDDM3B p.Tyr48Asn Uncertain significance Single submitter
- EDDM3B p.Tyr70Asp Uncertain significance Single submitter
- EDDM3B p.Tyr93His Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- EDDM3B p.Asp130Gly Uncertain significance Single submitter
- EDDM3B p.Asp62Tyr Uncertain significance Single submitter
- EDDM3B p.Leu12Ser Uncertain significance Single submitter
- EDDM3B p.Met54Thr Uncertain significance Single submitter
- EDDM3B p.Met54Val Uncertain significance Single submitter
- EDDM3B p.Ser119Arg Uncertain significance Single submitter
- EDDM3B p.Tyr132Cys Uncertain significance Single submitter
All EDDM3B variants
Likely benign 2
- p.Cys16Phe Single submitter
- p.Gly146Ser Single submitter
Uncertain significance 26
- p.Arg88His Single submitter ⚠
- p.Arg90Leu Single submitter ⚠
- p.Asn109Lys Single submitter ⚠
- p.Asp130Gly Single submitter ⚠
- p.Asp62Tyr Single submitter ⚠
- p.Cys80Arg Single submitter ⚠
- p.Glu108Lys Single submitter ⚠
- p.Glu124Ala Single submitter ⚠
- p.Glu27Lys Single submitter ⚠
- p.Glu77Lys Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Leu12Ser Single submitter ⚠
- p.Leu15Ile Single submitter ⚠
- p.Met54Thr Single submitter ⚠
- p.Met54Val Single submitter ⚠
- p.Phe33Leu Single submitter ⚠
- p.Pro144Arg Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Ser119Arg Single submitter ⚠
- p.Ser29Ala Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Trp30Ser Single submitter ⚠
- p.Tyr132Cys Single submitter ⚠
- p.Tyr48Asn Single submitter ⚠
- p.Tyr70Asp Single submitter ⚠
- p.Tyr93His Single submitter ⚠