ENDOG — 55 ClinVar variants
All ClinVar germline ENDOG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
3 Benign · 1 Benign/Likely benign · 2 Likely benign · 49 Uncertain significance
Full ENDOG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENDOG p.Arg184Cys Uncertain significance Multiple submitters
- ENDOG p.Ala143Asp Uncertain significance Single submitter
- ENDOG p.Ala14Val Uncertain significance Single submitter
- ENDOG p.Arg103His Uncertain significance Single submitter
- ENDOG p.Arg110Pro Uncertain significance Single submitter
- ENDOG p.Arg272Trp Uncertain significance Single submitter
- ENDOG p.Arg285Gln Uncertain significance Single submitter
- ENDOG p.Arg88Leu Uncertain significance Single submitter
- ENDOG p.Asp118Asn Uncertain significance Single submitter
- ENDOG p.Gln216His Uncertain significance Single submitter
- ENDOG p.Gly56Arg Uncertain significance Single submitter
- ENDOG p.Gly57Arg Uncertain significance Single submitter
- ENDOG p.Ile242Thr Uncertain significance Single submitter
- ENDOG p.Leu179Pro Uncertain significance Single submitter
- ENDOG p.Leu202Pro Uncertain significance Single submitter
- ENDOG p.Met155Thr Uncertain significance Single submitter
- ENDOG p.Pro61Leu Uncertain significance Single submitter
- ENDOG p.Ser274Leu Uncertain significance Single submitter
- ENDOG p.Thr293Lys Uncertain significance Single submitter
- ENDOG p.Tyr81Asp Uncertain significance Single submitter
- ENDOG p.Val42Leu Uncertain significance Single submitter
- ENDOG p.Val45Leu Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- ENDOG p.Thr246Ile Benign Multiple submitters
- ENDOG p.Ala130Val Uncertain significance Single submitter
- ENDOG p.Ala252Val Uncertain significance Single submitter
- ENDOG p.Ala284Val Uncertain significance Single submitter
- ENDOG p.Arg105Cys Uncertain significance Single submitter
- ENDOG p.Arg111Pro Uncertain significance Single submitter
- ENDOG p.Arg126Cys Uncertain significance Single submitter
- ENDOG p.Arg245Cys Uncertain significance Single submitter
- ENDOG p.Arg262Cys Uncertain significance Single submitter
- ENDOG p.Arg262His Uncertain significance Single submitter
- ENDOG p.Arg27Trp Uncertain significance Single submitter
- ENDOG p.Arg285Trp Uncertain significance Single submitter
- ENDOG p.Arg78Cys Uncertain significance Single submitter
- ENDOG p.Glu117Gln Uncertain significance Single submitter
- ENDOG p.Glu243Gly Uncertain significance Single submitter
- ENDOG p.Glu63Lys Uncertain significance Single submitter
- ENDOG p.Gly17Ser Uncertain significance Single submitter
- ENDOG p.Gly17Val Uncertain significance Single submitter
- ENDOG p.Gly35Glu Uncertain significance Single submitter
- ENDOG p.Leu171Phe Uncertain significance Single submitter
- ENDOG p.Leu276Met Uncertain significance Single submitter
- ENDOG p.Lys66Asn Benign Single submitter
- ENDOG p.Met155Ile Uncertain significance Single submitter
- ENDOG p.Pro101Ser Uncertain significance Single submitter
- ENDOG p.Pro253Ser Uncertain significance Single submitter
- ENDOG p.Pro87Leu Uncertain significance Single submitter
- ENDOG p.Ser120Leu Uncertain significance Single submitter
- ENDOG p.Trp150Gly Uncertain significance Single submitter
- ENDOG p.Val193Ile Uncertain significance Single submitter
All ENDOG variants
Benign 3
- p.Ile218= Multiple submitters
- p.Thr246Ile Multiple submitters ⚠
- p.Lys66Asn Single submitter ⚠
Benign/Likely benign 1
- p.Lys297fs Multiple submitters
Uncertain significance 49
- p.Arg184Cys Multiple submitters ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala143Asp Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala284Val Single submitter ⚠
- p.Arg103His Single submitter ⚠
- p.Arg105Cys Single submitter ⚠
- p.Arg110Pro Single submitter ⚠
- p.Arg111Pro Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg27Trp Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg285Trp Single submitter ⚠
- p.Arg78Cys Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Gln216His Single submitter ⚠
- p.Glu117Gln Single submitter ⚠
- p.Glu243Gly Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly17Val Single submitter ⚠
- p.Gly35Glu Single submitter ⚠
- p.Gly56Arg Single submitter ⚠
- p.Gly57Arg Single submitter ⚠
- p.Ile242Thr Single submitter ⚠
- p.Leu171Phe Single submitter ⚠
- p.Leu179Pro Single submitter ⚠
- p.Leu202Pro Single submitter ⚠
- p.Leu276Met Single submitter ⚠
- p.Met155Ile Single submitter ⚠
- p.Met155Thr Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro253Ser Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro87Leu Single submitter ⚠
- p.Ser120Leu Single submitter ⚠
- p.Ser274Leu Single submitter ⚠
- p.Thr293Lys Single submitter ⚠
- p.Trp150Gly Single submitter ⚠
- p.Tyr81Asp Single submitter ⚠
- p.Val193Ile Single submitter ⚠
- p.Val42Leu Single submitter ⚠
- p.Val45Leu Single submitter ⚠