ENDOU — 55 ClinVar variants
All ClinVar germline ENDOU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
3 Benign · 3 Likely benign · 49 Uncertain significance
Full ENDOU gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENDOU p.Ala229Val Uncertain significance Single submitter
- ENDOU p.Ala404Pro Uncertain significance Single submitter
- ENDOU p.Ala78Asp Uncertain significance Single submitter
- ENDOU p.Ala78Val Uncertain significance Single submitter
- ENDOU p.Arg150Lys Uncertain significance Single submitter
- ENDOU p.Arg368Ser Uncertain significance Single submitter
- ENDOU p.Asp330Asn Uncertain significance Single submitter
- ENDOU p.Cys117Tyr Uncertain significance Single submitter
- ENDOU p.Cys40Arg Uncertain significance Single submitter
- ENDOU p.Cys44Tyr Uncertain significance Single submitter
- ENDOU p.Cys90Arg Uncertain significance Single submitter
- ENDOU p.Glu284Ala Uncertain significance Single submitter
- ENDOU p.Gly379Arg Uncertain significance Single submitter
- ENDOU p.Ile148Thr Uncertain significance Single submitter
- ENDOU p.Ile169Val Uncertain significance Single submitter
- ENDOU p.Ile350Asn Uncertain significance Single submitter
- ENDOU p.Leu231Pro Uncertain significance Single submitter
- ENDOU p.Leu332Pro Uncertain significance Single submitter
- ENDOU p.Lys192Thr Uncertain significance Single submitter
- ENDOU p.Phe268Leu Uncertain significance Single submitter
- ENDOU p.Phe283Ser Uncertain significance Single submitter
- ENDOU p.Phe336Ser Uncertain significance Single submitter
- ENDOU p.Pro354Thr Uncertain significance Single submitter
- ENDOU p.Ser125Gly Uncertain significance Single submitter
- ENDOU p.Ser280Leu Uncertain significance Single submitter
- ENDOU p.Ser280Pro Uncertain significance Single submitter
- ENDOU p.Ser288Leu Uncertain significance Single submitter
- ENDOU p.Tyr316His Uncertain significance Single submitter
- ENDOU p.Val314Asp Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ENDOU p.Ala402Thr Uncertain significance Single submitter
- ENDOU p.Arg175Gly Likely benign Single submitter
- ENDOU p.Arg180Cys Uncertain significance Single submitter
- ENDOU p.Arg252Cys Uncertain significance Single submitter
- ENDOU p.Arg27Gln Uncertain significance Single submitter
- ENDOU p.Arg304Cys Uncertain significance Single submitter
- ENDOU p.Arg385Trp Uncertain significance Single submitter
- ENDOU p.Arg43Trp Uncertain significance Single submitter
- ENDOU p.Arg93Cys Uncertain significance Single submitter
- ENDOU p.Asp228Gly Uncertain significance Single submitter
- ENDOU p.Asp330Tyr Uncertain significance Single submitter
- ENDOU p.Glu226Lys Uncertain significance Single submitter
- ENDOU p.Glu96Lys Uncertain significance Single submitter
- ENDOU p.Leu270His Uncertain significance Single submitter
- ENDOU p.Lys295Asn Uncertain significance Single submitter
- ENDOU p.Ser245Ile Uncertain significance Single submitter
- ENDOU p.Ser81Ile Uncertain significance Single submitter
- ENDOU p.Thr393Ile Uncertain significance Single submitter
- ENDOU p.Val239Leu Uncertain significance Single submitter
- ENDOU p.Val296Ile Uncertain significance Single submitter
- ENDOU p.Val314Ala Uncertain significance Single submitter
All ENDOU variants
Benign 3
- p.Arg211Gln Multiple submitters
- p.Asp228= Multiple submitters
- p.Tyr317= Multiple submitters
Likely benign 3
- p.Arg175Gly Single submitter ⚠
- p.Gln70Glu Single submitter
- p.His215Arg Single submitter
Uncertain significance 49
- p.Ala229Val Single submitter ⚠
- p.Ala402Thr Single submitter ⚠
- p.Ala404Pro Single submitter ⚠
- p.Ala78Asp Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg150Lys Single submitter ⚠
- p.Arg180Cys Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg27Gln Single submitter ⚠
- p.Arg304Cys Single submitter ⚠
- p.Arg368Ser Single submitter ⚠
- p.Arg385Trp Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Asp228Gly Single submitter ⚠
- p.Asp330Asn Single submitter ⚠
- p.Asp330Tyr Single submitter ⚠
- p.Cys117Tyr Single submitter ⚠
- p.Cys40Arg Single submitter ⚠
- p.Cys44Tyr Single submitter ⚠
- p.Cys90Arg Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Glu284Ala Single submitter ⚠
- p.Glu96Lys Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Ile148Thr Single submitter ⚠
- p.Ile169Val Single submitter ⚠
- p.Ile350Asn Single submitter ⚠
- p.Leu231Pro Single submitter ⚠
- p.Leu270His Single submitter ⚠
- p.Leu332Pro Single submitter ⚠
- p.Lys192Thr Single submitter ⚠
- p.Lys295Asn Single submitter ⚠
- p.Phe268Leu Single submitter ⚠
- p.Phe283Ser Single submitter ⚠
- p.Phe336Ser Single submitter ⚠
- p.Pro354Thr Single submitter ⚠
- p.Ser125Gly Single submitter ⚠
- p.Ser245Ile Single submitter ⚠
- p.Ser280Leu Single submitter ⚠
- p.Ser280Pro Single submitter ⚠
- p.Ser288Leu Single submitter ⚠
- p.Ser81Ile Single submitter ⚠
- p.Thr393Ile Single submitter ⚠
- p.Tyr316His Single submitter ⚠
- p.Val239Leu Single submitter ⚠
- p.Val296Ile Single submitter ⚠
- p.Val314Ala Single submitter ⚠
- p.Val314Asp Single submitter ⚠