ESRRB — 319 ClinVar variants
All ClinVar germline ESRRB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
10 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 24 Conflicting · 27 Benign · 7 Benign/Likely benign · 82 Likely benign · 154 Uncertain significance
Full ESRRB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll ESRRB variants
Pathogenic 10
- p.Cys166Ter Single submitter
- p.Gln221Ter Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Phe446fs Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Pro251fs Single submitter
- p.Tyr311Ter Single submitter
- p.Ala131Val No assertion criteria autosomal recessive nonsyndromic hearing loss 35
- p.Arg203His No assertion criteria autosomal recessive nonsyndromic hearing loss 35
- p.Gly188Arg No assertion criteria autosomal recessive nonsyndromic hearing loss 35
- p.Gly284Ser No assertion criteria autosomal recessive nonsyndromic hearing loss 35
- p.Val363Leu No assertion criteria autosomal recessive nonsyndromic hearing loss 35
Pathogenic/Likely pathogenic 1
- p.Ile309fs Multiple submitters
Likely pathogenic 14
- c.851-2A>T Multiple submitters
- c.*1451C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.577+2T>C Single submitter
- c.688+1G>A Single submitter
- c.*1451C>A Single submitter
- p.? Single submitter Rare genetic deafness
- p.Arg270Ter Single submitter Rare genetic deafness
- p.Leu338fs Single submitter Rare genetic deafness
- p.Thr423fs Single submitter Rare genetic deafness
- p.Trp278Cys Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Trp408Ter Single submitter Rare genetic deafness
- p.Tyr246Ter Single submitter
- p.Tyr326His Single submitter Monogenic hearing loss
- p.Val363fs Single submitter Rare genetic deafness
Conflicting classifications of pathogenicity 24
- c.1120+8C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.577+15C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.689-10G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1474T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1517C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1527C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1535G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1546C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1556T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2287G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Ala336Thr Single submitter
- p.Ala69Val Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Arg173His Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Arg195Cys Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Arg403Cys Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Asp318Asn Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Glu255= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Gly308= Single submitter
- p.His392= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Lys228= Single submitter
- p.Ser313Leu Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Ser59= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Val138= Single submitter
- p.Val454Leu Single submitter autosomal recessive nonsyndromic hearing loss 35
Benign 27
- c.460+100T>C Multiple submitters
- c.460+56T>C Multiple submitters
- c.460+64T>C Multiple submitters
- c.461-112G>A Multiple submitters
- c.461-116A>G Multiple submitters
- c.577+21G>A Multiple submitters
- c.689-79T>C Multiple submitters
- c.851-45G>C Multiple submitters
- c.*125C>T Multiple submitters
- c.*1292A>G Multiple submitters
- c.*175T>C Multiple submitters
- c.*2504T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*2574C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*2906T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Arg27Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Ile48= Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Tyr316= Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.1120+19C>T Single submitter
- c.1121-265_1121-264insCA Single submitter
- c.461-158A>G Single submitter
- c.461-214A>G Single submitter
- c.461-263A>G Single submitter
- c.578-96dup Single submitter
- c.850+190C>T Single submitter
- c.*1107A>G Single submitter
- c.*1161T>G Single submitter
- c.*1834G>T Single submitter
Benign/Likely benign 7
- c.1120+11C>T Multiple submitters
- c.688+13G>A Multiple submitters
- c.*13C>T Multiple submitters
- p.Asp292= Multiple submitters
- p.Leu68= Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Pro407Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Val434Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 35
Likely benign 82
- c.1120+15G>A Multiple submitters
- c.51-18C>T Multiple submitters
- c.850+10T>A Multiple submitters
- c.850+55C>T Multiple submitters
- c.*1350G>A Multiple submitters
- c.*2140C>T Multiple submitters
- c.*7C>T Multiple submitters
- c.*8G>A Multiple submitters
- p.Arg403His Multiple submitters
- p.Pro161= Multiple submitters
- p.Pro242= Multiple submitters
- p.Val126= Multiple submitters
- c.1120+14C>A Single submitter
- c.1120+14C>T Single submitter
- c.1120+17G>A Single submitter
- c.1120+9G>A Single submitter
- c.1121-17C>T Single submitter
- c.1121-44C>T Single submitter
- c.1121-50A>C Single submitter
- c.1121-56C>T Single submitter
- c.460+4C>T Single submitter
- c.461-115C>T Single submitter
- c.461-12G>A Single submitter
- c.461-19T>C Single submitter
- c.461-249C>T Single submitter
- c.51-305C>T Single submitter
- c.577+19T>C Single submitter
- c.577+31G>A Single submitter
- c.577+45G>C Single submitter
- c.578-7C>A Single submitter
- c.578-9C>A Single submitter
- c.688+17T>C Single submitter
- c.688+19C>T Single submitter
- c.689-14T>G Single submitter
- c.850+47G>A Single submitter
- c.850+9G>A Single submitter
- c.851-14C>A Single submitter
- c.851-14C>T Single submitter
- c.*126G>A Single submitter
- c.*1386C>T Single submitter
- c.*1509C>T Single submitter
- c.*1623_*1690del Single submitter
- c.*1892G>A Single submitter
- c.*2222G>C Single submitter
- c.*2225T>G Single submitter
- c.*2242G>A Single submitter
- c.*258C>T Single submitter
- c.*263C>A Single submitter
- c.*43C>T Single submitter
- p.Ala139= Single submitter
- p.Ala344= Single submitter
- p.Ala424= Single submitter
- p.Arg421= Single submitter
- p.Asn164= Single submitter
- p.Asn75= Single submitter
- p.Asp317Asn Single submitter
- p.Cys112= Single submitter
- p.Cys166= Single submitter
- p.Cys265= Single submitter
- p.Glu330= Single submitter
- p.Gly137= Single submitter
- p.Gly252= Single submitter
- p.Ile104= Single submitter
- p.Ile378= Single submitter
- p.Leu218= Single submitter
- p.Leu245= Single submitter
- p.Leu307= Single submitter
- p.Leu338= Single submitter
- p.Leu346= Single submitter
- p.Leu381= Single submitter
- p.Leu415= Single submitter
- p.Leu419= Single submitter
- p.Lys207= Single submitter
- p.Ser102= Single submitter
- p.Ser313= Single submitter
- p.Ser46= Single submitter
- p.Ser79= Single submitter
- p.Thr364= Single submitter
- p.Thr416= Single submitter
- p.Thr423= Single submitter
- p.Thr72= Single submitter
- c.*1616T>C No assertion criteria ESRRB-related disorder
Uncertain significance 154
- c.578-4A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*1502A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*1534C>T Multiple submitters
- c.*1559A>G Multiple submitters
- c.*1604G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*2334G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- c.*2382G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Ala101Val Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Ala344Val Multiple submitters
- p.Ala383Thr Multiple submitters
- p.Ala62Thr Multiple submitters
- p.Arg180Cys Multiple submitters
- p.Arg180His Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Arg208Gln Multiple submitters
- p.Arg209Gln Multiple submitters
- p.Arg209Trp Multiple submitters
- p.Arg270Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Arg312Cys Multiple submitters
- p.Arg343Gln Multiple submitters
- p.Arg343Trp Multiple submitters hearing loss disorder
- p.Arg421Trp Multiple submitters
- p.Asp380His Multiple submitters
- p.Cys93Tyr Multiple submitters
- p.Glu393Lys Multiple submitters
- p.Gly103Arg Multiple submitters
- p.Gly64Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Gly87Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Leu220Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 35
- p.Leu77Met Multiple submitters
- p.Met248Val Multiple submitters
- p.Pro161Leu Multiple submitters
- p.Ser108Ala Multiple submitters
- p.Thr410Met Multiple submitters
- p.Thr423Met Multiple submitters
- p.Tyr377His Multiple submitters
- c.1120+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.1120+5G>C Single submitter
- c.460+5G>A Single submitter
- c.50+27963T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.50+27968G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.50+28005T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-191T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-211A>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-236C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-292C>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-300A>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-324G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.-369G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1398C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1402C>A Single submitter
- c.*1506G>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1514C>A Single submitter
- c.*1519G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1529A>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*1550C>A Single submitter
- c.*1586G>A Single submitter
- c.*1592G>A Single submitter
- c.*1597C>A Single submitter
- c.*1598C>A Single submitter
- c.*2238G>A Single submitter
- c.*2241dup Single submitter
- c.*2373G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2639C>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2702A>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2721A>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2751C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2765A>G Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2859T>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2867C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2912G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2926G>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2945C>A Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*2953C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3018G>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3220T>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3331C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3338C>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3347A>T Single submitter autosomal recessive nonsyndromic hearing loss 35
- c.*3372G>C Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Ala178Gly Single submitter
- p.Ala178Val Single submitter
- p.Ala300Val Single submitter
- p.Ala323Thr Single submitter
- p.Ala336Val Single submitter
- p.Ala371Ser Single submitter
- p.Ala371Thr Single submitter
- p.Ala383Val Single submitter
- p.Ala74Thr Single submitter
- p.Ala74Val Single submitter
- p.Ala86Ser Single submitter
- p.Arg171Gln Single submitter
- p.Arg173Cys Single submitter
- p.Arg200Cys Single submitter
- p.Arg200His Single submitter hearing loss disorder
- p.Arg200Leu Single submitter
- p.Arg334Cys Single submitter
- p.Arg350Cys Single submitter
- p.Arg350His Single submitter
- p.Asn164Lys Single submitter
- p.Asn75Ser Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Asp25Glu Single submitter
- p.Asp266His Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Asp26Asn Single submitter
- p.Cys100Ser Single submitter
- p.Cys160= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Cys179Tyr Single submitter
- p.Gln388Arg Single submitter
- p.Glu393Gln Single submitter
- p.Glu399Lys Single submitter
- p.Glu98Lys Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Gly133Val Single submitter
- p.Gly256Glu Single submitter
- p.Gly34Ser Single submitter
- p.Gly65Cys Single submitter
- p.Gly76Cys Single submitter
- p.Gly76Ser Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Gly87Arg Single submitter
- p.His392Gln Single submitter
- p.His430Leu Single submitter
- p.Ile152Thr Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Ile275Leu Single submitter
- p.Ile275Val Single submitter
- p.Ile276Thr Single submitter
- p.Ile309Thr Single submitter
- p.Ile37Phe Single submitter
- p.Leu272His Single submitter
- p.Leu335Val Single submitter
- p.Leu368Arg Single submitter
- p.Leu370Phe Single submitter
- p.Leu391Val Single submitter
- p.Leu420fs Single submitter
- p.Leu450= Single submitter
- p.Leu77Val Single submitter
- p.Lys121Gln Single submitter
- p.Lys186= Single submitter
- p.Lys232Glu Single submitter
- p.Lys359Asn Single submitter
- p.Lys38Gln Single submitter
- p.Lys412= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Met115Leu Single submitter
- p.Met328Val Single submitter
- p.Met376Thr Single submitter
- p.Pro216Ala Single submitter
- p.Pro251Arg Single submitter
- p.Ser295Thr Single submitter
- p.Ser373= Single submitter autosomal recessive nonsyndromic hearing loss 35
- p.Tyr114His Single submitter
- p.Tyr322Ser Single submitter
- p.Tyr432Cys Single submitter
- p.Val126Leu Single submitter
- p.Val138Met Single submitter
- p.Val321Met Single submitter
- p.Met22Ile No assertion criteria premature menopause
- p.Thr262Asn No assertion criteria autosomal recessive nonsyndromic hearing loss 35