ESRRG — 43 ClinVar variants

All ClinVar germline ESRRG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 2 Benign · 34 Uncertain significance

Full ESRRG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 31

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ESRRG p.Gly137Glu Conflicting Single submitter
movement disorder

Predictors lean, ClinVar uncertain 25

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All ESRRG variants

Pathogenic/Likely pathogenic 1

p.Arg184Cys Multiple submitters ESRRG-related condition

Likely pathogenic 5

p.Cys170Arg Single submitter
p.Cys180Tyr Single submitter movement disorder
p.Leu449Arg Single submitter movement disorder
p.Leu451fs Single submitter movement disorder
p.Lys149Arg Single submitter movement disorder

Conflicting classifications of pathogenicity 1

p.Gly137Glu Single submitter movement disorder ⚠

Benign 2

p.Cys164= Multiple submitters
c.472+9C>T Single submitter

Uncertain significance 34

p.Arg175Leu Single submitter ⚠
p.Arg212Cys Single submitter ⚠
p.Arg29Gln Single submitter ⚠
p.Asn121Ser Single submitter ⚠
p.Asp259Asn Single submitter
p.Cys35Tyr Single submitter ⚠
p.Gln157Ter Single submitter
p.Glu386Ala Single submitter ⚠
p.Gly288Val Single submitter ⚠
p.Gly312Ser Single submitter ⚠
p.Gly60Ser Single submitter ⚠
p.Ile134Val Single submitter ⚠
p.Ile331Thr Single submitter ⚠
p.Leu14Pro Single submitter ⚠
p.Leu6Phe Single submitter ⚠
p.Leu84Val Single submitter ⚠
p.Lys149Thr Single submitter ⚠
p.Lys430Arg Single submitter ⚠
p.Lys448Gln Single submitter ⚠
p.Pro43Ser Single submitter ⚠
p.Ser163Gly Single submitter ⚠
p.Ser25Pro Single submitter ⚠
p.Ser379Cys Single submitter ⚠
p.Ser81Leu Single submitter
p.Ser94Gly Single submitter ⚠
p.Tyr234Asn Single submitter ⚠
p.Tyr234Cys Single submitter ⚠
p.Tyr234His Single submitter ⚠
p.Tyr250Cys Single submitter ⚠
p.Val314Ile Single submitter ⚠
p.Val353Ala Single submitter ⚠
p.Val53Ile Single submitter ⚠
c.56+15867GT[3] No assertion criteria premature menopause
p.Tyr356Cys No assertion criteria premature menopause ⚠