EBPL — 33 ClinVar variants
All ClinVar germline EBPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
3 Likely benign · 30 Uncertain significance
Full EBPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EBPL p.Ala107Thr Uncertain significance Single submitter
- EBPL p.Ala11Gly Uncertain significance Single submitter
- EBPL p.Ala39Val Uncertain significance Single submitter
- EBPL p.Ala89Val Uncertain significance Single submitter
- EBPL p.Asn173Lys Uncertain significance Single submitter
- EBPL p.Gly141Arg Uncertain significance Single submitter
- EBPL p.Gly42Trp Uncertain significance Single submitter
- EBPL p.Trp176Arg Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- EBPL p.Ala107Ser Uncertain significance Single submitter
- EBPL p.Ala23Glu Uncertain significance Single submitter
- EBPL p.Ala27Thr Uncertain significance Single submitter
- EBPL p.Ala38Val Uncertain significance Single submitter
- EBPL p.Ala43Gly Uncertain significance Single submitter
- EBPL p.Arg127Trp Uncertain significance Single submitter
- EBPL p.Asn156Ser Uncertain significance Single submitter
- EBPL p.Asp109Gly Uncertain significance Single submitter
- EBPL p.Asp88Asn Uncertain significance Single submitter
- EBPL p.Glu138Gln Uncertain significance Single submitter
- EBPL p.Glu138Lys Uncertain significance Single submitter
- EBPL p.Gly75Asp Uncertain significance Single submitter
- EBPL p.Ile120Thr Uncertain significance Single submitter
- EBPL p.Leu183Arg Uncertain significance Single submitter
- EBPL p.Leu22Met Uncertain significance Single submitter
- EBPL p.Leu44Phe Uncertain significance Single submitter
- EBPL p.Pro180Ser Uncertain significance Single submitter
- EBPL p.Val106Ile Uncertain significance Single submitter
- EBPL p.Val136Met Uncertain significance Single submitter
- EBPL p.Val177Phe Uncertain significance Single submitter
- EBPL p.Val53Ala Uncertain significance Single submitter
- EBPL p.Val62Ala Uncertain significance Single submitter
All EBPL variants
Likely benign 3
- p.Asn161Ser Single submitter
- p.Gln36Arg Single submitter
- p.Val70Ile Single submitter
Uncertain significance 30
- p.Ala107Ser Single submitter ⚠
- p.Ala107Thr Single submitter ⚠
- p.Ala11Gly Single submitter ⚠
- p.Ala23Glu Single submitter ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala38Val Single submitter ⚠
- p.Ala39Val Single submitter ⚠
- p.Ala43Gly Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Asn156Ser Single submitter ⚠
- p.Asn173Lys Single submitter ⚠
- p.Asp109Gly Single submitter ⚠
- p.Asp88Asn Single submitter ⚠
- p.Glu138Gln Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Gly141Arg Single submitter ⚠
- p.Gly42Trp Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
- p.Leu183Arg Single submitter ⚠
- p.Leu22Met Single submitter ⚠
- p.Leu44Phe Single submitter ⚠
- p.Pro180Ser Single submitter ⚠
- p.Trp176Arg Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val136Met Single submitter ⚠
- p.Val177Phe Single submitter ⚠
- p.Val53Ala Single submitter ⚠
- p.Val62Ala Single submitter ⚠