ENDOV — 59 ClinVar variants
All ClinVar germline ENDOV variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Benign · 1 Likely benign · 57 Uncertain significance
Full ENDOV gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENDOV p.Ala220Val Uncertain significance Single submitter
- ENDOV p.Ala239Pro Uncertain significance Single submitter
- ENDOV p.Ala264Val Uncertain significance Single submitter
- ENDOV p.Ala35Gly Uncertain significance Single submitter
- ENDOV p.Ala41Thr Uncertain significance Single submitter
- ENDOV p.Ala89Val Uncertain significance Single submitter
- ENDOV p.Arg179Gln Uncertain significance Single submitter
- ENDOV p.Arg231Gln Uncertain significance Single submitter
- ENDOV p.Arg237His Uncertain significance Single submitter
- ENDOV p.Arg31Gly Uncertain significance Single submitter
- ENDOV p.Asp52Val Uncertain significance Single submitter
- ENDOV p.Cys270Arg Uncertain significance Single submitter
- ENDOV p.Cys270Phe Uncertain significance Single submitter
- ENDOV p.Gly276Arg Uncertain significance Single submitter
- ENDOV p.Gly8Arg Uncertain significance Single submitter
- ENDOV p.Leu104Trp Uncertain significance Single submitter
- ENDOV p.Leu197Pro Uncertain significance Single submitter
- ENDOV p.Leu70Pro Uncertain significance Single submitter
-
ENDOV p.Met215Leu
Uncertain significance
Single submitter
UMLS: C0007644
- ENDOV p.Pro10Leu Uncertain significance Single submitter
- ENDOV p.Pro262Leu Uncertain significance Single submitter
- ENDOV p.Pro40Ala Uncertain significance Single submitter
- ENDOV p.Pro9Leu Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- ENDOV p.Ala167Thr Uncertain significance Single submitter
- ENDOV p.Ala63Gly Uncertain significance Single submitter
- ENDOV p.Ala65Ser Uncertain significance Single submitter
- ENDOV p.Ala89Ser Uncertain significance Single submitter
- ENDOV p.Arg202Cys Uncertain significance Single submitter
- ENDOV p.Arg231Trp Uncertain significance Single submitter
- ENDOV p.Arg23Trp Uncertain significance Single submitter
- ENDOV p.Arg248Cys Uncertain significance Single submitter
- ENDOV p.Arg248Gly Uncertain significance Single submitter
- ENDOV p.Arg31Trp Uncertain significance Single submitter
- ENDOV p.Arg83Cys Uncertain significance Single submitter
- ENDOV p.Arg83His Uncertain significance Single submitter
- ENDOV p.Gln37His Uncertain significance Single submitter
- ENDOV p.Gln46His Uncertain significance Single submitter
- ENDOV p.His27Pro Uncertain significance Single submitter
- ENDOV p.Ile241Val Uncertain significance Single submitter
- ENDOV p.Leu145Phe Uncertain significance Single submitter
- ENDOV p.Leu163Gln Uncertain significance Single submitter
- ENDOV p.Leu70Phe Uncertain significance Single submitter
- ENDOV p.Lys170Glu Uncertain significance Single submitter
- ENDOV p.Met119Val Uncertain significance Single submitter
- ENDOV p.Phe183Leu Uncertain significance Single submitter
- ENDOV p.Pro10Arg Uncertain significance Single submitter
- ENDOV p.Pro10Gln Uncertain significance Single submitter
- ENDOV p.Pro10Ser Uncertain significance Single submitter
- ENDOV p.Pro116Arg Uncertain significance Single submitter
- ENDOV p.Pro116Leu Uncertain significance Single submitter
- ENDOV p.Pro259Leu Uncertain significance Single submitter
- ENDOV p.Ser261Asn Uncertain significance Single submitter
- ENDOV p.Ser93Leu Uncertain significance Single submitter
- ENDOV p.Val101Met Uncertain significance Single submitter
- ENDOV p.Val144Ile Uncertain significance Single submitter
- ENDOV p.Val211Met Uncertain significance Single submitter
- ENDOV p.Val236Met Uncertain significance Single submitter
All ENDOV variants
Benign 1
- p.His141Tyr Multiple submitters
Likely benign 1
- p.Arg174Gln Single submitter
Uncertain significance 57
- p.Ala167Thr Single submitter ⚠
- p.Ala220Val Single submitter ⚠
- p.Ala239Pro Single submitter ⚠
- p.Ala264Val Single submitter ⚠
- p.Ala35Gly Single submitter ⚠
- p.Ala41Thr Single submitter ⚠
- p.Ala63Gly Single submitter ⚠
- p.Ala65Ser Single submitter ⚠
- p.Ala89Ser Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg179Gln Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg231Trp Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg23Trp Single submitter ⚠
- p.Arg248Cys Single submitter ⚠
- p.Arg248Gly Single submitter ⚠
- p.Arg31Gly Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Asp52Val Single submitter ⚠
- p.Cys270Arg Single submitter ⚠
- p.Cys270Phe Single submitter ⚠
- p.Gln37His Single submitter ⚠
- p.Gln46His Single submitter ⚠
- p.Gly276Arg Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.His27Pro Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Leu104Trp Single submitter ⚠
- p.Leu145Phe Single submitter ⚠
- p.Leu163Gln Single submitter ⚠
- p.Leu197Pro Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Leu70Pro Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Met119Val Single submitter ⚠
- p.Met215Leu Single submitter UMLS: C0007644 ⚠
- p.Phe183Leu Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro10Gln Single submitter ⚠
- p.Pro10Leu Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro116Arg Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro259Leu Single submitter ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro40Ala Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser261Asn Single submitter ⚠
- p.Ser93Leu Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val144Ile Single submitter ⚠
- p.Val211Met Single submitter ⚠
- p.Val236Met Single submitter ⚠