ENDOD1 — 79 ClinVar variants
All ClinVar germline ENDOD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
9 Likely benign · 70 Uncertain significance
Full ENDOD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENDOD1 p.Ala320Val Uncertain significance Single submitter
- ENDOD1 p.Ala352Glu Uncertain significance Single submitter
- ENDOD1 p.Ala45Ser Uncertain significance Single submitter
- ENDOD1 p.Ala80Thr Uncertain significance Single submitter
- ENDOD1 p.Ala83Ser Uncertain significance Single submitter
- ENDOD1 p.Arg414Gln Uncertain significance Single submitter
- ENDOD1 p.Asn107Thr Uncertain significance Single submitter
- ENDOD1 p.Asn496Ser Uncertain significance Single submitter
- ENDOD1 p.Asp102Asn Uncertain significance Single submitter
- ENDOD1 p.Asp183Asn Uncertain significance Single submitter
- ENDOD1 p.Asp206Asn Uncertain significance Single submitter
- ENDOD1 p.Gln290Arg Uncertain significance Single submitter
- ENDOD1 p.Gln367Lys Uncertain significance Single submitter
- ENDOD1 p.Gln57His Uncertain significance Single submitter
- ENDOD1 p.Glu284Ala Uncertain significance Single submitter
- ENDOD1 p.Gly191Asp Uncertain significance Single submitter
- ENDOD1 p.Gly230Arg Uncertain significance Single submitter
- ENDOD1 p.Gly231Val Uncertain significance Single submitter
- ENDOD1 p.Gly46Arg Uncertain significance Single submitter
- ENDOD1 p.Gly475Asp Uncertain significance Single submitter
- ENDOD1 p.His52Tyr Uncertain significance Single submitter
- ENDOD1 p.Ile101Val Uncertain significance Single submitter
- ENDOD1 p.Ile118Val Uncertain significance Single submitter
- ENDOD1 p.Ile455Val Uncertain significance Single submitter
- ENDOD1 p.Leu19Val Uncertain significance Single submitter
- ENDOD1 p.Leu342Phe Uncertain significance Single submitter
- ENDOD1 p.Lys256Gln Uncertain significance Single submitter
- ENDOD1 p.Met332Val Uncertain significance Single submitter
- ENDOD1 p.Phe260Cys Uncertain significance Single submitter
- ENDOD1 p.Pro76Leu Uncertain significance Single submitter
- ENDOD1 p.Ser126Arg Uncertain significance Single submitter
- ENDOD1 p.Ser326Gly Uncertain significance Single submitter
- ENDOD1 p.Thr276Pro Uncertain significance Single submitter
- ENDOD1 p.Thr444Ile Uncertain significance Single submitter
- ENDOD1 p.Trp174Gly Uncertain significance Single submitter
- ENDOD1 p.Trp6Ser Uncertain significance Single submitter
- ENDOD1 p.Tyr175Asp Uncertain significance Single submitter
- ENDOD1 p.Tyr197Phe Uncertain significance Single submitter
- ENDOD1 p.Tyr347Phe Uncertain significance Single submitter
- ENDOD1 p.Tyr377Cys Uncertain significance Single submitter
- ENDOD1 p.Val153Ile Uncertain significance Single submitter
- ENDOD1 p.Val237Asp Uncertain significance Single submitter
- ENDOD1 p.Val431Phe Uncertain significance Single submitter
- ENDOD1 p.Val451Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- ENDOD1 p.Ala438Thr Uncertain significance Single submitter
- ENDOD1 p.Arg173Trp Uncertain significance Single submitter
- ENDOD1 p.Arg241Trp Uncertain significance Single submitter
- ENDOD1 p.Arg85Cys Uncertain significance Single submitter
- ENDOD1 p.Asp248Glu Uncertain significance Single submitter
- ENDOD1 p.Asp35Val Uncertain significance Single submitter
- ENDOD1 p.Asp73Ala Uncertain significance Single submitter
- ENDOD1 p.Gln93Pro Uncertain significance Single submitter
- ENDOD1 p.Gly41Glu Likely benign Single submitter
- ENDOD1 p.Gly489Asp Uncertain significance Single submitter
- ENDOD1 p.Gly90Cys Uncertain significance Single submitter
- ENDOD1 p.Ile372Thr Uncertain significance Single submitter
- ENDOD1 p.Ile390Thr Uncertain significance Single submitter
- ENDOD1 p.Leu12Phe Uncertain significance Single submitter
- ENDOD1 p.Leu376Arg Uncertain significance Single submitter
- ENDOD1 p.Leu434Pro Uncertain significance Single submitter
- ENDOD1 p.Leu96Val Uncertain significance Single submitter
- ENDOD1 p.Lys210Glu Uncertain significance Single submitter
- ENDOD1 p.Lys212Glu Uncertain significance Single submitter
- ENDOD1 p.Lys341Arg Uncertain significance Single submitter
- ENDOD1 p.Met279Thr Uncertain significance Single submitter
- ENDOD1 p.Ser148Phe Uncertain significance Single submitter
- ENDOD1 p.Ser302Cys Uncertain significance Single submitter
- ENDOD1 p.Val351Ile Uncertain significance Single submitter
- ENDOD1 p.Val368Met Uncertain significance Single submitter
- ENDOD1 p.Val405Met Likely benign Single submitter
- ENDOD1 p.Val77Gly Uncertain significance Single submitter
- ENDOD1 p.Val77Met Uncertain significance Single submitter
All ENDOD1 variants
Likely benign 9
- p.Ala111Val Single submitter
- p.Arg241Gln Single submitter
- p.Cys363Tyr Single submitter
- p.Gly41Glu Single submitter ⚠
- p.Ile384Val Single submitter
- p.Phe13Leu Single submitter
- p.Thr132= Single submitter
- p.Thr202= Single submitter
- p.Val405Met Single submitter ⚠
Uncertain significance 70
- p.Ala320Val Single submitter ⚠
- p.Ala352Glu Single submitter ⚠
- p.Ala438Thr Single submitter ⚠
- p.Ala45Ser Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Ala83Ser Single submitter ⚠
- p.Arg173Trp Single submitter ⚠
- p.Arg241Trp Single submitter ⚠
- p.Arg414Gln Single submitter ⚠
- p.Arg85Cys Single submitter ⚠
- p.Asn107Thr Single submitter ⚠
- p.Asn496Ser Single submitter ⚠
- p.Asp102Asn Single submitter ⚠
- p.Asp183Asn Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp248Glu Single submitter ⚠
- p.Asp35Val Single submitter ⚠
- p.Asp73Ala Single submitter ⚠
- p.Gln290Arg Single submitter ⚠
- p.Gln367Lys Single submitter ⚠
- p.Gln57His Single submitter ⚠
- p.Gln93Pro Single submitter ⚠
- p.Glu284Ala Single submitter ⚠
- p.Gly191Asp Single submitter ⚠
- p.Gly230Arg Single submitter ⚠
- p.Gly231Val Single submitter ⚠
- p.Gly46Arg Single submitter ⚠
- p.Gly475Asp Single submitter ⚠
- p.Gly489Asp Single submitter ⚠
- p.Gly90Cys Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile101Val Single submitter ⚠
- p.Ile118Val Single submitter ⚠
- p.Ile372Thr Single submitter ⚠
- p.Ile390Thr Single submitter ⚠
- p.Ile455Val Single submitter ⚠
- p.Leu12Phe Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu342Phe Single submitter ⚠
- p.Leu376Arg Single submitter ⚠
- p.Leu434Pro Single submitter ⚠
- p.Leu96Val Single submitter ⚠
- p.Lys210Glu Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys256Gln Single submitter ⚠
- p.Lys341Arg Single submitter ⚠
- p.Met279Thr Single submitter ⚠
- p.Met332Val Single submitter ⚠
- p.Phe260Cys Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Ser126Arg Single submitter ⚠
- p.Ser148Phe Single submitter ⚠
- p.Ser302Cys Single submitter ⚠
- p.Ser326Gly Single submitter ⚠
- p.Thr276Pro Single submitter ⚠
- p.Thr444Ile Single submitter ⚠
- p.Trp174Gly Single submitter ⚠
- p.Trp6Ser Single submitter ⚠
- p.Tyr175Asp Single submitter ⚠
- p.Tyr197Phe Single submitter ⚠
- p.Tyr347Phe Single submitter ⚠
- p.Tyr377Cys Single submitter ⚠
- p.Val153Ile Single submitter ⚠
- p.Val237Asp Single submitter ⚠
- p.Val351Ile Single submitter ⚠
- p.Val368Met Single submitter ⚠
- p.Val431Phe Single submitter ⚠
- p.Val451Ile Single submitter ⚠
- p.Val77Gly Single submitter ⚠
- p.Val77Met Single submitter ⚠