EBLN2 — 57 ClinVar variants
All ClinVar germline EBLN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Likely benign · 56 Uncertain significance
Full EBLN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBLN2 p.Ala106Thr Uncertain significance Single submitter
- EBLN2 p.Ala107Val Uncertain significance Single submitter
- EBLN2 p.Ala165Gly Uncertain significance Single submitter
- EBLN2 p.Ala176Gly Uncertain significance Single submitter
- EBLN2 p.Ala214Val Uncertain significance Single submitter
- EBLN2 p.Ala90Ser Uncertain significance Single submitter
- EBLN2 p.Arg160Gly Uncertain significance Single submitter
- EBLN2 p.Arg160Ser Uncertain significance Single submitter
- EBLN2 p.Arg184Cys Uncertain significance Single submitter
- EBLN2 p.Arg211Gln Uncertain significance Single submitter
- EBLN2 p.Arg269His Uncertain significance Single submitter
- EBLN2 p.Arg30Gly Uncertain significance Single submitter
- EBLN2 p.Arg42Gln Uncertain significance Single submitter
- EBLN2 p.Asp63Tyr Uncertain significance Single submitter
- EBLN2 p.Asp99His Uncertain significance Single submitter
- EBLN2 p.Gln44Glu Uncertain significance Single submitter
- EBLN2 p.Gln56Arg Uncertain significance Single submitter
- EBLN2 p.Gly250Val Uncertain significance Single submitter
- EBLN2 p.His115Arg Uncertain significance Single submitter
- EBLN2 p.His266Gln Uncertain significance Single submitter
- EBLN2 p.His50Tyr Uncertain significance Single submitter
- EBLN2 p.Ile100Leu Uncertain significance Single submitter
- EBLN2 p.Ile103Val Uncertain significance Single submitter
- EBLN2 p.Ile175Val Uncertain significance Single submitter
- EBLN2 p.Ile193Thr Uncertain significance Single submitter
- EBLN2 p.Ile219Val Uncertain significance Single submitter
- EBLN2 p.Ile37Val Uncertain significance Single submitter
- EBLN2 p.Ile97Thr Uncertain significance Single submitter
- EBLN2 p.Ile97Val Uncertain significance Single submitter
- EBLN2 p.Leu129Phe Uncertain significance Single submitter
- EBLN2 p.Leu189Phe Uncertain significance Single submitter
- EBLN2 p.Leu70Phe Uncertain significance Single submitter
- EBLN2 p.Lys267Arg Uncertain significance Single submitter
- EBLN2 p.Lys6Arg Uncertain significance Single submitter
- EBLN2 p.Phe131Tyr Uncertain significance Single submitter
- EBLN2 p.Pro247Leu Uncertain significance Single submitter
- EBLN2 p.Pro57Ala Uncertain significance Single submitter
- EBLN2 p.Pro57Leu Uncertain significance Single submitter
- EBLN2 p.Ser198Ile Uncertain significance Single submitter
- EBLN2 p.Ser227Gly Uncertain significance Single submitter
- EBLN2 p.Ser244Thr Uncertain significance Single submitter
- EBLN2 p.Ser272Arg Uncertain significance Single submitter
- EBLN2 p.Ser58Gly Uncertain significance Single submitter
- EBLN2 p.Thr47Pro Uncertain significance Single submitter
- EBLN2 p.Val182Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EBLN2 p.Cys130Tyr Uncertain significance Single submitter
- EBLN2 p.Gly144Asp Uncertain significance Single submitter
- EBLN2 p.Gly144Val Uncertain significance Single submitter
- EBLN2 p.His120Arg Uncertain significance Single submitter
- EBLN2 p.Leu140Ser Uncertain significance Single submitter
- EBLN2 p.Lys179Asn Uncertain significance Single submitter
- EBLN2 p.Phe133Leu Uncertain significance Single submitter
- EBLN2 p.Phe258Leu Uncertain significance Single submitter
- EBLN2 p.Ser125Asn Uncertain significance Single submitter
- EBLN2 p.Ser15Arg Uncertain significance Single submitter
- EBLN2 p.Val145Leu Uncertain significance Single submitter
All EBLN2 variants
Likely benign 1
- p.Asn235Ser Single submitter
Uncertain significance 56
- p.Ala106Thr Single submitter ⚠
- p.Ala107Val Single submitter ⚠
- p.Ala165Gly Single submitter ⚠
- p.Ala176Gly Single submitter ⚠
- p.Ala214Val Single submitter ⚠
- p.Ala90Ser Single submitter ⚠
- p.Arg160Gly Single submitter ⚠
- p.Arg160Ser Single submitter ⚠
- p.Arg184Cys Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg269His Single submitter ⚠
- p.Arg30Gly Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Asp63Tyr Single submitter ⚠
- p.Asp99His Single submitter ⚠
- p.Cys130Tyr Single submitter ⚠
- p.Gln44Glu Single submitter ⚠
- p.Gln56Arg Single submitter ⚠
- p.Gly144Asp Single submitter ⚠
- p.Gly144Val Single submitter ⚠
- p.Gly250Val Single submitter ⚠
- p.His115Arg Single submitter ⚠
- p.His120Arg Single submitter ⚠
- p.His266Gln Single submitter ⚠
- p.His50Tyr Single submitter ⚠
- p.Ile100Leu Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile175Val Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Ile219Val Single submitter ⚠
- p.Ile37Val Single submitter ⚠
- p.Ile97Thr Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Leu129Phe Single submitter ⚠
- p.Leu140Ser Single submitter ⚠
- p.Leu189Phe Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Lys179Asn Single submitter ⚠
- p.Lys267Arg Single submitter ⚠
- p.Lys6Arg Single submitter ⚠
- p.Phe131Tyr Single submitter ⚠
- p.Phe133Leu Single submitter ⚠
- p.Phe258Leu Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro57Ala Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Ser125Asn Single submitter ⚠
- p.Ser15Arg Single submitter ⚠
- p.Ser198Ile Single submitter ⚠
- p.Ser227Gly Single submitter ⚠
- p.Ser244Thr Single submitter ⚠
- p.Ser272Arg Single submitter ⚠
- p.Ser58Gly Single submitter ⚠
- p.Thr47Pro Single submitter ⚠
- p.Val145Leu Single submitter ⚠
- p.Val182Leu Single submitter ⚠