EBLN1 — 56 ClinVar variants
All ClinVar germline EBLN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Likely benign · 54 Uncertain significance
Full EBLN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBLN1 p.Ala148Val Uncertain significance Single submitter
- EBLN1 p.Ala218Val Uncertain significance Single submitter
- EBLN1 p.Ala256Thr Uncertain significance Single submitter
- EBLN1 p.Ala305Gly Uncertain significance Single submitter
- EBLN1 p.Arg358Cys Uncertain significance Single submitter
- EBLN1 p.Arg37Lys Uncertain significance Single submitter
- EBLN1 p.Arg3His Uncertain significance Single submitter
- EBLN1 p.Arg5Gly Uncertain significance Single submitter
- EBLN1 p.Arg5Lys Uncertain significance Single submitter
- EBLN1 p.Asn108Asp Uncertain significance Single submitter
- EBLN1 p.Asn157Ser Uncertain significance Single submitter
- EBLN1 p.Asn355Ile Uncertain significance Single submitter
- EBLN1 p.Asn7Lys Uncertain significance Single submitter
- EBLN1 p.Asp15Glu Uncertain significance Single submitter
- EBLN1 p.Asp19Gly Uncertain significance Single submitter
- EBLN1 p.Asp245His Uncertain significance Single submitter
- EBLN1 p.Asp87His Uncertain significance Single submitter
- EBLN1 p.Gln47Glu Uncertain significance Single submitter
- EBLN1 p.Glu109Lys Uncertain significance Single submitter
- EBLN1 p.Glu112Ala Uncertain significance Single submitter
- EBLN1 p.Gly107Glu Uncertain significance Single submitter
- EBLN1 p.Gly346Glu Uncertain significance Single submitter
- EBLN1 p.Gly364Glu Uncertain significance Single submitter
- EBLN1 p.Gly97Ser Uncertain significance Single submitter
- EBLN1 p.His139Tyr Uncertain significance Single submitter
- EBLN1 p.Ile325Leu Uncertain significance Single submitter
- EBLN1 p.Leu205Val Uncertain significance Single submitter
- EBLN1 p.Leu94Arg Uncertain significance Single submitter
- EBLN1 p.Lys111Gln Uncertain significance Single submitter
- EBLN1 p.Lys120Arg Uncertain significance Single submitter
- EBLN1 p.Lys226Gln Uncertain significance Single submitter
- EBLN1 p.Phe209Ile Uncertain significance Single submitter
- EBLN1 p.Phe209Tyr Uncertain significance Single submitter
- EBLN1 p.Phe26Ser Uncertain significance Single submitter
- EBLN1 p.Pro333Leu Uncertain significance Single submitter
- EBLN1 p.Ser2Phe Uncertain significance Single submitter
- EBLN1 p.Ser33Phe Uncertain significance Single submitter
- EBLN1 p.Ser95Gly Uncertain significance Single submitter
- EBLN1 p.Thr10Ser Uncertain significance Single submitter
- EBLN1 p.Thr127Ala Uncertain significance Single submitter
- EBLN1 p.Val274Ile Uncertain significance Single submitter
- EBLN1 p.Val292Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EBLN1 variants
Likely benign 2
- p.Arg286Cys Single submitter
- p.Ser16Asn Single submitter
Uncertain significance 54
- p.Ala148Val Single submitter ⚠
- p.Ala218Val Single submitter ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala302Glu Single submitter
- p.Ala305Gly Single submitter ⚠
- p.Ala309Asp Single submitter
- p.Arg138Pro Single submitter
- p.Arg199Ser Single submitter
- p.Arg358Cys Single submitter ⚠
- p.Arg37Lys Single submitter ⚠
- p.Arg3His Single submitter ⚠
- p.Arg5Gly Single submitter ⚠
- p.Arg5Lys Single submitter ⚠
- p.Asn103Lys Single submitter
- p.Asn108Asp Single submitter ⚠
- p.Asn157Ser Single submitter ⚠
- p.Asn355Ile Single submitter ⚠
- p.Asn7Lys Single submitter ⚠
- p.Asp15Glu Single submitter ⚠
- p.Asp19Gly Single submitter ⚠
- p.Asp245His Single submitter ⚠
- p.Asp87His Single submitter ⚠
- p.Gln47Glu Single submitter ⚠
- p.Glu109Lys Single submitter ⚠
- p.Glu112Ala Single submitter ⚠
- p.Gly107Glu Single submitter ⚠
- p.Gly346Glu Single submitter ⚠
- p.Gly364Glu Single submitter ⚠
- p.Gly97Ser Single submitter ⚠
- p.His139Tyr Single submitter ⚠
- p.Ile325Leu Single submitter ⚠
- p.Ile343Thr Single submitter
- p.Leu205Val Single submitter ⚠
- p.Leu285Pro Single submitter
- p.Leu94Arg Single submitter ⚠
- p.Lys111Gln Single submitter ⚠
- p.Lys120Arg Single submitter ⚠
- p.Lys226Gln Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe209Ile Single submitter ⚠
- p.Phe209Tyr Single submitter ⚠
- p.Phe26Ser Single submitter ⚠
- p.Pro299Arg Single submitter ⚠
- p.Pro333Leu Single submitter ⚠
- p.Ser12Arg Single submitter
- p.Ser158Arg Single submitter ⚠
- p.Ser2Phe Single submitter ⚠
- p.Ser33Phe Single submitter ⚠
- p.Ser95Arg Single submitter
- p.Ser95Gly Single submitter ⚠
- p.Thr10Ser Single submitter ⚠
- p.Thr127Ala Single submitter ⚠
- p.Val274Ile Single submitter ⚠
- p.Val292Leu Single submitter ⚠