ESRRA — 53 ClinVar variants
All ClinVar germline ESRRA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
2 Benign · 2 Likely benign · 49 Uncertain significance
Full ESRRA 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.
- ESRRA p.Ala216Thr Uncertain significance Single submitter
- ESRRA p.Ala226Gly Uncertain significance Single submitter
- ESRRA p.Ala38Thr Uncertain significance Single submitter
- ESRRA p.Ala42Pro Uncertain significance Single submitter
- ESRRA p.Arg320Gln Uncertain significance Single submitter
- ESRRA p.Arg380Ser Uncertain significance Single submitter
- ESRRA p.Gln64Lys Uncertain significance Single submitter
- ESRRA p.Glu288Val Uncertain significance Single submitter
- ESRRA p.Glu57Asp Uncertain significance Single submitter
- ESRRA p.Glu63Gln Uncertain significance Single submitter
- ESRRA p.Gly174Asp Uncertain significance Single submitter
- ESRRA p.Gly25Ser Uncertain significance Single submitter
- ESRRA p.Gly365Ser Uncertain significance Single submitter
- ESRRA p.Gly371Ala Uncertain significance Single submitter
- ESRRA p.Gly65Arg Uncertain significance Single submitter
- ESRRA p.Gly66Ser Uncertain significance Single submitter
- ESRRA p.His221Tyr Uncertain significance Single submitter
- ESRRA p.Ile8Leu Uncertain significance Single submitter
- ESRRA p.Leu181Pro Uncertain significance Single submitter
- ESRRA p.Lys138Asn Uncertain significance Single submitter
- ESRRA p.Lys394Arg Uncertain significance Single submitter
- ESRRA p.Pro177Leu Uncertain significance Single submitter
- ESRRA p.Pro17Leu Uncertain significance Single submitter
- ESRRA p.Pro33Leu Uncertain significance Single submitter
- ESRRA p.Pro33Thr Uncertain significance Single submitter
- ESRRA p.Pro48Leu Uncertain significance Single submitter
- ESRRA p.Ser339Pro Uncertain significance Single submitter
- ESRRA p.Tyr91Cys Uncertain significance Single submitter
- ESRRA p.Val225Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ESRRA p.Thr31Ile Benign Multiple submitters
- ESRRA p.Ala184Thr Uncertain significance Single submitter
- ESRRA p.Ala274Gly Uncertain significance Single submitter
- ESRRA p.Ala300Gly Uncertain significance Single submitter
- ESRRA p.Ala367Thr Uncertain significance Single submitter
- ESRRA p.Ala373Thr Uncertain significance Single submitter
- ESRRA p.Arg164Gln Uncertain significance Single submitter
- ESRRA p.Arg188Trp Uncertain significance Single submitter
- ESRRA p.Glu32Lys Uncertain significance Single submitter
- ESRRA p.Glu349Gln Uncertain significance Single submitter
- ESRRA p.Glu361Gln Uncertain significance Single submitter
- ESRRA p.Glu419Asp Uncertain significance Single submitter
- ESRRA p.Glu52Lys Uncertain significance Single submitter
- ESRRA p.Gly56Trp Uncertain significance Single submitter
- ESRRA p.His341Arg Uncertain significance Single submitter
- ESRRA p.Pro177Arg Uncertain significance Single submitter
- ESRRA p.Pro33His Uncertain significance Single submitter
- ESRRA p.Ser199Cys Uncertain significance Single submitter
- ESRRA p.Ser27Leu Uncertain significance Single submitter
- ESRRA p.Thr227Ala Uncertain significance Single submitter
- ESRRA p.Val154Ile Uncertain significance Single submitter
All ESRRA variants
Benign 2
- p.Thr31Ile Multiple submitters ⚠
- p.Ala287= Single submitter
Uncertain significance 49
- p.Ala184Thr Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala226Gly Single submitter ⚠
- p.Ala274Gly Single submitter ⚠
- p.Ala300Gly Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala42Pro Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Arg188Trp Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg380Ser Single submitter ⚠
- p.Gln64Lys Single submitter ⚠
- p.Glu288Val Single submitter ⚠
- p.Glu32Lys Single submitter ⚠
- p.Glu349Gln Single submitter ⚠
- p.Glu361Gln Single submitter ⚠
- p.Glu419Asp Single submitter ⚠
- p.Glu52Lys Single submitter ⚠
- p.Glu57Asp Single submitter ⚠
- p.Glu63Gln Single submitter ⚠
- p.Gly174Asp Single submitter ⚠
- p.Gly25Ser Single submitter ⚠
- p.Gly365Ser Single submitter ⚠
- p.Gly371Ala Single submitter ⚠
- p.Gly56Trp Single submitter ⚠
- p.Gly65Arg Single submitter ⚠
- p.Gly66Ser Single submitter ⚠
- p.His221Tyr Single submitter ⚠
- p.His341Arg Single submitter ⚠
- p.Ile8Leu Single submitter ⚠
- p.Leu181Pro Single submitter ⚠
- p.Lys138Asn Single submitter ⚠
- p.Lys394Arg Single submitter ⚠
- p.Pro177Arg Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro33His Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Pro33Thr Single submitter ⚠
- p.Pro48Leu Single submitter ⚠
- p.Ser199Cys Single submitter ⚠
- p.Ser27Leu Single submitter ⚠
- p.Ser339Pro Single submitter ⚠
- p.Thr227Ala Single submitter ⚠
- p.Tyr91Cys Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val225Met Single submitter ⚠