EPS8L2 — 407 ClinVar variants
All ClinVar germline EPS8L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 189 flagged for review →
18 Pathogenic · 8 Likely pathogenic · 6 Conflicting · 37 Benign · 1 Benign/Likely benign · 143 Likely benign · 194 Uncertain significance
Full EPS8L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 189
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 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPS8L2 p.Arg193Gln Uncertain significance Multiple submitters
- EPS8L2 p.Arg245Gln Uncertain significance Multiple submitters
- EPS8L2 p.Arg506Leu Uncertain significance Multiple submitters
- EPS8L2 p.Asp265Asn Uncertain significance Multiple submitters
- EPS8L2 p.Gln3Lys Uncertain significance Multiple submitters
- EPS8L2 p.Glu239Gln Uncertain significance Multiple submitters
- EPS8L2 p.Gly19Ser Uncertain significance Multiple submitters
- EPS8L2 p.Gly214Asp Uncertain significance Multiple submitters
-
EPS8L2 p.Gly5Arg
Uncertain significance
Multiple submitters
Meniere disease
- EPS8L2 p.Lys30Arg Uncertain significance Multiple submitters
-
EPS8L2 p.Met27Thr
Uncertain significance
Multiple submitters
hearing loss, autosomal recessive 106
- EPS8L2 p.Met62Leu Uncertain significance Multiple submitters
- EPS8L2 p.Ser143Leu Uncertain significance Multiple submitters
- EPS8L2 p.Ser617Thr Uncertain significance Multiple submitters
-
EPS8L2 p.Thr69Met
Uncertain significance
Multiple submitters
hearing loss, autosomal recessive 106
-
EPS8L2 p.Trp528Cys
Uncertain significance
Multiple submitters
hearing loss, autosomal recessive 106
- EPS8L2 p.Tyr565Asn Uncertain significance Multiple submitters
- EPS8L2 p.Val497Ile Uncertain significance Multiple submitters
- EPS8L2 p.Ala246Thr Uncertain significance Single submitter
- EPS8L2 p.Ala262Thr Uncertain significance Single submitter
- EPS8L2 p.Ala554Val Uncertain significance Single submitter
- EPS8L2 p.Ala6Val Uncertain significance Single submitter
- EPS8L2 p.Arg223His Uncertain significance Single submitter
- EPS8L2 p.Arg236His Uncertain significance Single submitter
- EPS8L2 p.Arg305Pro Uncertain significance Single submitter
- EPS8L2 p.Arg305Trp Uncertain significance Single submitter
- EPS8L2 p.Arg453Gln Uncertain significance Single submitter
- EPS8L2 p.Arg453Pro Uncertain significance Single submitter
- EPS8L2 p.Arg605Lys Uncertain significance Single submitter
- EPS8L2 p.Arg710Lys Uncertain significance Single submitter
- EPS8L2 p.Arg711Ser Uncertain significance Single submitter
-
EPS8L2 p.Asn260Ser
Uncertain significance
Single submitter
hearing loss, autosomal recessive 106
- EPS8L2 p.Asn509Ser Uncertain significance Single submitter
- EPS8L2 p.Asp105Ala Uncertain significance Single submitter
- EPS8L2 p.Asp105Asn Uncertain significance Single submitter
- EPS8L2 p.Asp516His Uncertain significance Single submitter
- EPS8L2 p.Cys670Tyr Uncertain significance Single submitter
- EPS8L2 p.Gln285Glu Uncertain significance Single submitter
- EPS8L2 p.Gln609Glu Uncertain significance Single submitter
- EPS8L2 p.Glu239Asp Uncertain significance Single submitter
- EPS8L2 p.Glu278Asp Uncertain significance Single submitter
- EPS8L2 p.Glu397Asp Uncertain significance Single submitter
- EPS8L2 p.Glu510Lys Uncertain significance Single submitter
- EPS8L2 p.Glu548Lys Uncertain significance Single submitter
- EPS8L2 p.Glu585Lys Uncertain significance Single submitter
- EPS8L2 p.Glu85Asp Uncertain significance Single submitter
- EPS8L2 p.Gly19Arg Uncertain significance Single submitter
- EPS8L2 p.Gly204Arg Uncertain significance Single submitter
- EPS8L2 p.Gly312Asp Uncertain significance Single submitter
- EPS8L2 p.Gly349Arg Uncertain significance Single submitter
- EPS8L2 p.Gly525Ser Uncertain significance Single submitter
- EPS8L2 p.Gly539Ala Uncertain significance Single submitter
- EPS8L2 p.Gly555Arg Uncertain significance Single submitter
- EPS8L2 p.Gly567Arg Uncertain significance Single submitter
- EPS8L2 p.Gly567Val Uncertain significance Single submitter
- EPS8L2 p.Gly581Arg Uncertain significance Single submitter
- EPS8L2 p.Gly712Arg Uncertain significance Single submitter
- EPS8L2 p.His53Gln Uncertain significance Single submitter
- EPS8L2 p.His705Asn Uncertain significance Single submitter
- EPS8L2 p.Ile192Val Uncertain significance Single submitter
- EPS8L2 p.Ile354Val Uncertain significance Single submitter
- EPS8L2 p.Ile598Phe Uncertain significance Single submitter
- EPS8L2 p.Ile652Val Uncertain significance Single submitter
- EPS8L2 p.Leu130Gln Uncertain significance Single submitter
- EPS8L2 p.Leu500Pro Uncertain significance Single submitter
- EPS8L2 p.Leu661His Uncertain significance Single submitter
- EPS8L2 p.Lys178Arg Uncertain significance Single submitter
- EPS8L2 p.Lys281Arg Uncertain significance Single submitter
- EPS8L2 p.Lys37Arg Uncertain significance Single submitter
- EPS8L2 p.Lys668Ile Uncertain significance Single submitter
- EPS8L2 p.Met180Ile Uncertain significance Single submitter
- EPS8L2 p.Met46Arg Uncertain significance Single submitter
- EPS8L2 p.Met493Ile Uncertain significance Single submitter
- EPS8L2 p.Met587Val Uncertain significance Single submitter
- EPS8L2 p.Met62Val Uncertain significance Single submitter
- EPS8L2 p.Phe269Cys Uncertain significance Single submitter
- EPS8L2 p.Phe348Val Uncertain significance Single submitter
- EPS8L2 p.Phe558Ser Uncertain significance Single submitter
- EPS8L2 p.Pro11Leu Uncertain significance Single submitter
- EPS8L2 p.Pro133Ala Uncertain significance Single submitter
- EPS8L2 p.Pro200Ser Uncertain significance Single submitter
- EPS8L2 p.Pro207Ser Uncertain significance Single submitter
- EPS8L2 p.Pro229Ser Uncertain significance Single submitter
- EPS8L2 p.Pro244Leu Uncertain significance Single submitter
- EPS8L2 p.Pro468Ser Uncertain significance Single submitter
- EPS8L2 p.Pro470Thr Uncertain significance Single submitter
- EPS8L2 p.Pro542Ser Uncertain significance Single submitter
- EPS8L2 p.Pro557Ser Uncertain significance Single submitter
- EPS8L2 p.Pro576Ser Uncertain significance Single submitter
- EPS8L2 p.Pro577Ser Uncertain significance Single submitter
- EPS8L2 p.Pro580Ser Uncertain significance Single submitter
- EPS8L2 p.Pro623Leu Uncertain significance Single submitter
- EPS8L2 p.Ser197Pro Uncertain significance Single submitter
- EPS8L2 p.Ser512Leu Uncertain significance Single submitter
- EPS8L2 p.Thr14Ile Uncertain significance Single submitter
- EPS8L2 p.Trp399Ser Uncertain significance Single submitter
- EPS8L2 p.Trp566Cys Uncertain significance Single submitter
- EPS8L2 p.Val344Glu Uncertain significance Single submitter
- EPS8L2 p.Val355Ile Uncertain significance Single submitter
- EPS8L2 p.Val416Leu Uncertain significance Single submitter
- EPS8L2 p.Val416Met Uncertain significance Single submitter
- EPS8L2 p.Val44Ile Uncertain significance Single submitter
-
EPS8L2 p.Phe269Leu
Uncertain significance
No assertion criteria
Meniere disease
Predictors split 86
The independent predictors disagree with each other — read with care.
- EPS8L2 p.Arg20Gln Benign Multiple submitters
-
EPS8L2 p.Arg272Trp
Uncertain significance
Multiple submitters
Meniere disease
- EPS8L2 p.Arg365Cys Uncertain significance Multiple submitters
- EPS8L2 p.Arg711Met Likely benign Multiple submitters
- EPS8L2 p.Asp352His Uncertain significance Multiple submitters
- EPS8L2 p.Gln537Glu Uncertain significance Multiple submitters
- EPS8L2 p.Ile363Thr Uncertain significance Multiple submitters
- EPS8L2 p.Lys640Arg Uncertain significance Multiple submitters
- EPS8L2 p.Pro407Leu Uncertain significance Multiple submitters
- EPS8L2 p.Ser169Asn Uncertain significance Multiple submitters
- EPS8L2 p.Val367Ile Uncertain significance Multiple submitters
- EPS8L2 p.Ala276Val Uncertain significance Single submitter
- EPS8L2 p.Ala364Thr Uncertain significance Single submitter
- EPS8L2 p.Arg102Gly Uncertain significance Single submitter
- EPS8L2 p.Arg102Trp Uncertain significance Single submitter
- EPS8L2 p.Arg175Trp Uncertain significance Single submitter
- EPS8L2 p.Arg20Trp Uncertain significance Single submitter
- EPS8L2 p.Arg236Cys Uncertain significance Single submitter
- EPS8L2 p.Arg305Gln Uncertain significance Single submitter
- EPS8L2 p.Arg307Gln Uncertain significance Single submitter
- EPS8L2 p.Arg365His Uncertain significance Single submitter
- EPS8L2 p.Arg401Gln Uncertain significance Single submitter
- EPS8L2 p.Arg401Trp Uncertain significance Single submitter
- EPS8L2 p.Arg403Cys Uncertain significance Single submitter
- EPS8L2 p.Arg506Gln Uncertain significance Single submitter
- EPS8L2 p.Arg711Thr Uncertain significance Single submitter
- EPS8L2 p.Arg76Gln Uncertain significance Single submitter
- EPS8L2 p.Arg76Trp Uncertain significance Single submitter
- EPS8L2 p.Asn337Lys Uncertain significance Single submitter
- EPS8L2 p.Asp142Gly Uncertain significance Single submitter
- EPS8L2 p.Asp156Asn Uncertain significance Single submitter
- EPS8L2 p.Asp352Asn Uncertain significance Single submitter
- EPS8L2 p.Asp428Asn Uncertain significance Single submitter
- EPS8L2 p.Asp524Asn Uncertain significance Single submitter
- EPS8L2 p.Asp553Asn Uncertain significance Single submitter
- EPS8L2 p.Cys317Arg Uncertain significance Single submitter
- EPS8L2 p.Cys358Tyr Uncertain significance Single submitter
- EPS8L2 p.Cys369Gly Uncertain significance Single submitter
- EPS8L2 p.Gln183His Uncertain significance Single submitter
- EPS8L2 p.Gln55Lys Uncertain significance Single submitter
- EPS8L2 p.Glu107Lys Uncertain significance Single submitter
- EPS8L2 p.Glu111Asp Uncertain significance Single submitter
- EPS8L2 p.Glu159Lys Uncertain significance Single submitter
- EPS8L2 p.Glu393Lys Uncertain significance Single submitter
- EPS8L2 p.Glu424Asp Uncertain significance Single submitter
- EPS8L2 p.Gly422Ser Uncertain significance Single submitter
- EPS8L2 p.Gly562Cys Uncertain significance Single submitter
- EPS8L2 p.Gly671Ser Uncertain significance Single submitter
- EPS8L2 p.Ile321Val Conflicting Single submitter
- EPS8L2 p.Ile545Met Uncertain significance Single submitter
- EPS8L2 p.Ile68Leu Uncertain significance Single submitter
- EPS8L2 p.Leu127Phe Uncertain significance Single submitter
- EPS8L2 p.Leu136Met Uncertain significance Single submitter
- EPS8L2 p.Leu546Val Uncertain significance Single submitter
- EPS8L2 p.Lys287Glu Uncertain significance Single submitter
- EPS8L2 p.Lys583Asn Uncertain significance Single submitter
- EPS8L2 p.Met707Val Uncertain significance Single submitter
- EPS8L2 p.Pro148Leu Uncertain significance Single submitter
- EPS8L2 p.Pro425Leu Uncertain significance Single submitter
- EPS8L2 p.Pro426Ser Uncertain significance Single submitter
- EPS8L2 p.Pro444Leu Uncertain significance Single submitter
- EPS8L2 p.Ser123Asn Uncertain significance Single submitter
- EPS8L2 p.Ser169Arg Uncertain significance Single submitter
- EPS8L2 p.Ser169Thr Uncertain significance Single submitter
- EPS8L2 p.Ser21Phe Uncertain significance Single submitter
- EPS8L2 p.Ser339Arg Conflicting Single submitter
- EPS8L2 p.Ser373Phe Uncertain significance Single submitter
- EPS8L2 p.Ser390Leu Uncertain significance Single submitter
- EPS8L2 p.Ser455Phe Uncertain significance Single submitter
- EPS8L2 p.Ser50Leu Uncertain significance Single submitter
- EPS8L2 p.Ser695Pro Uncertain significance Single submitter
- EPS8L2 p.Ser8Asn Uncertain significance Single submitter
- EPS8L2 p.Thr119Met Uncertain significance Single submitter
- EPS8L2 p.Thr184Ala Uncertain significance Single submitter
-
EPS8L2 p.Thr256Arg
Likely pathogenic
Single submitter
hearing loss, autosomal recessive 106
- EPS8L2 p.Thr682Ser Uncertain significance Single submitter
- EPS8L2 p.Val139Leu Uncertain significance Single submitter
- EPS8L2 p.Val247Met Uncertain significance Single submitter
- EPS8L2 p.Val344Leu Uncertain significance Single submitter
- EPS8L2 p.Val344Met Uncertain significance Single submitter
- EPS8L2 p.Val377Met Uncertain significance Single submitter
- EPS8L2 p.Val7Met Conflicting Single submitter
- EPS8L2 p.Val96Leu Uncertain significance Single submitter
-
EPS8L2 p.Arg381Cys
Uncertain significance
No assertion criteria
Meniere disease
-
EPS8L2 p.His154Tyr
Uncertain significance
No assertion criteria
hearing loss, autosomal recessive 106
-
EPS8L2 p.Pro308Ser
Uncertain significance
No assertion criteria
Meniere disease
All EPS8L2 variants
Pathogenic 18
- p.Asp473fs Multiple submitters hearing loss, autosomal recessive 106
- p.Val478fs Multiple submitters hearing loss, autosomal recessive 106
- p.Ala279fs Single submitter hearing loss, autosomal recessive 106
- p.Ala569fs Single submitter
- p.Gln141Ter Single submitter
- p.Ile106fs Single submitter
- p.Ile321fs Single submitter hearing loss, autosomal recessive 106
- p.Lys178fs Single submitter
- p.Lys290fs Single submitter
- p.Lys333fs Single submitter hearing loss, autosomal recessive 106
- p.Pro542fs Single submitter hearing loss, autosomal recessive 106
- p.Ser339fs Single submitter hearing loss, autosomal recessive 106
- p.Ser50fs Single submitter hearing loss, autosomal recessive 106
- p.Trp392Ter Single submitter hearing loss, autosomal recessive 106
- p.Trp399Ter Single submitter hearing loss, autosomal recessive 106
- p.Trp435Ter Single submitter
- p.Trp636fs Single submitter
- p.Val247fs No assertion criteria hearing loss, autosomal recessive 106
Likely pathogenic 8
- c.984+2T>G Single submitter
- p.Gln121fs Single submitter hearing loss, autosomal recessive 106
- p.Glu165Ter Single submitter
- p.Leu440fs Single submitter hearing loss, autosomal recessive 106
- p.Lys295Ter Single submitter hearing loss, autosomal recessive 106
- p.Pro471fs Single submitter hearing loss, autosomal recessive 106
- p.Thr256Arg Single submitter hearing loss, autosomal recessive 106 ⚠
- p.Tyr626Ter Single submitter hearing loss, autosomal recessive 106
Conflicting classifications of pathogenicity 6
- p.Asn41= Single submitter
- p.Gln55Ter Single submitter hearing loss, autosomal recessive 106
- p.Ile321Val Single submitter ⚠
- p.Pro471= Single submitter
- p.Ser339Arg Single submitter ⚠
- p.Val7Met Single submitter ⚠
Benign 37
- c.100+72T>C Multiple submitters hearing loss, autosomal recessive 106
- c.1059+28G>A Multiple submitters
- c.1059+37G>C Multiple submitters
- c.1454+76C>T Multiple submitters
- c.1455-222A>T Multiple submitters
- c.1560+17C>T Multiple submitters
- c.165+72G>A Multiple submitters hearing loss, autosomal recessive 106
- c.165+81A>C Multiple submitters
- c.166-81C>G Multiple submitters
- c.1681-67G>A Multiple submitters
- c.1753+23G>A Multiple submitters
- c.1753+8= Multiple submitters
- c.1935-38T>C Multiple submitters
- c.1935-4C>A Multiple submitters
- c.2067+63C>G Multiple submitters
- c.558-51A>G Multiple submitters
- c.895+46A>G Multiple submitters
- c.896-26G>C Multiple submitters
- c.-7A>G Multiple submitters
- p.Arg20Gln Multiple submitters ⚠
- p.Ile258= Multiple submitters hearing loss, autosomal recessive 106
- p.Leu101= Multiple submitters hearing loss, autosomal recessive 106
- p.Pro308= Multiple submitters
- p.Pro471Leu Multiple submitters
- p.Tyr415= Multiple submitters
- c.1060-13_1060-10del Single submitter
- c.1208+20T>C Single submitter
- c.1342-125C>T Single submitter
- c.1680+15dup Single submitter
- c.1935-8G>A Single submitter
- c.2067+13G>A Single submitter
- c.328-42del Single submitter
- c.477+17C>T Single submitter
- c.558-45A>G Single submitter
- c.-78-148_-78-132del Single submitter
- c.-78-174CAACTGGGACGTGGGGC[3] Single submitter
- p.His589= Single submitter
Benign/Likely benign 1
- p.Cys261= Multiple submitters
Likely benign 143
- c.1060-6C>T Multiple submitters
- c.*449G>A Multiple submitters
- p.Ala376= Multiple submitters
- p.Arg711Met Multiple submitters ⚠
- p.Asp362= Multiple submitters
- p.Gly712= Multiple submitters
- c.100+19C>T Single submitter
- c.101-8C>T Single submitter
- c.1208+17C>A Single submitter
- c.1341+11C>A Single submitter
- c.1341+13G>A Single submitter
- c.1342-17G>A Single submitter
- c.1455-8C>T Single submitter
- c.1560+7G>T Single submitter
- c.1561-11G>A Single submitter
- c.165+10C>T Single submitter
- c.165+12C>A Single submitter
- c.165+17A>C Single submitter
- c.166-5C>T Single submitter
- c.166-9C>T Single submitter
- c.1680+18C>T Single submitter
- c.1680+20T>A Single submitter
- c.1681-18C>A Single submitter
- c.1681-8C>T Single submitter
- c.1934+10G>A Single submitter
- c.1934+11G>A Single submitter
- c.1934+14G>T Single submitter
- c.1934+15G>A Single submitter
- c.2067+13G>C Single submitter
- c.2067+15G>C Single submitter
- c.2067+18C>T Single submitter
- c.2067+9G>A Single submitter
- c.2068-15_2068-14insACCCCA Single submitter
- c.2068-15A>G Single submitter
- c.2068-4C>G Single submitter
- c.2068-8C>T Single submitter
- c.327+18G>A Single submitter
- c.327+19G>A Single submitter
- c.44+17A>G Single submitter
- c.44+9T>C Single submitter
- c.477+13C>A Single submitter
- c.478-10G>A Single submitter
- c.478-13C>T Single submitter
- c.478-4C>G Single submitter
- c.558-13C>T Single submitter
- c.700+10G>A Single submitter
- c.700+10G>C Single submitter
- c.700+13dup Single submitter
- c.701-10C>A Single submitter
- c.701-14G>A Single submitter
- c.768+10C>T Single submitter
- c.769-10C>T Single submitter
- c.769-9T>G Single submitter
- c.895+18G>A Single submitter
- c.895+22_895+71del Single submitter
- c.895+5A>G Single submitter
- c.895+7G>C Single submitter
- c.896-20C>T Single submitter
- c.984+8C>A Single submitter
- c.*378T>C Single submitter
- c.*429C>T Single submitter
- c.*432C>T Single submitter
- c.*551G>T Single submitter
- p.Ala172= Single submitter
- p.Ala206Ser Single submitter
- p.Ala271= Single submitter
- p.Ala277= Single submitter
- p.Ala296= Single submitter
- p.Ala341= Single submitter
- p.Ala494= Single submitter
- p.Ala554= Single submitter
- p.Ala639= Single submitter
- p.Ala67= Single submitter
- p.Arg122= Single submitter
- p.Arg245= Single submitter
- p.Arg305= Single submitter
- p.Arg381= Single submitter
- p.Arg613= Single submitter
- p.Asn326= Single submitter
- p.Asn509= Single submitter
- p.Asn97= Single submitter
- p.Asp72= Single submitter
- p.Gln285= Single submitter
- p.Glu253= Single submitter
- p.Glu446= Single submitter
- p.Glu615= Single submitter
- p.Glu632= Single submitter
- p.Glu664= Single submitter
- p.Glu85= Single submitter
- p.Gly187= Single submitter
- p.Gly214= Single submitter
- p.Gly23Ser Single submitter
- p.Gly289= Single submitter
- p.Gly555= Single submitter
- p.Gly581= Single submitter
- p.Gly694= Single submitter
- p.His334= Single submitter
- p.Ile106= Single submitter
- p.Ile445= Single submitter
- p.Leu263= Single submitter
- p.Leu331= Single submitter
- p.Leu353= Single submitter
- p.Leu372= Single submitter
- p.Leu511= Single submitter
- p.Leu650= Single submitter
- p.Leu661= Single submitter
- p.Lys147= Single submitter
- p.Lys667= Single submitter
- p.Phe642= Single submitter
- p.Pro11= Single submitter
- p.Pro205= Single submitter
- p.Pro407= Single submitter
- p.Pro464Leu Single submitter
- p.Ser21= Single submitter
- p.Ser359= Single submitter
- p.Ser366= Single submitter
- p.Ser390= Single submitter
- p.Ser404= Single submitter
- p.Ser421= Single submitter
- p.Ser50= Single submitter
- p.Ser512= Single submitter
- p.Ser533= Single submitter
- p.Ser535= Single submitter
- p.Ser65= Single submitter
- p.Ser715Arg Single submitter
- p.Thr465Ala Single submitter
- p.Thr69= Single submitter
- p.Tyr132= Single submitter
- p.Val301= Single submitter
- p.Val521= Single submitter
- p.Val541= Single submitter
- p.Val677= Single submitter
- c.1341+5G>C No assertion criteria EPS8L2-related disorder
- c.1754-8C>A No assertion criteria EPS8L2-related disorder
- c.44+9T>A No assertion criteria EPS8L2-related disorder
- c.477+7C>T No assertion criteria EPS8L2-related disorder
- c.984+4G>A No assertion criteria EPS8L2-related disorder
- c.*9G>A No assertion criteria EPS8L2-related disorder
- p.Arg711= No assertion criteria EPS8L2-related disorder
- p.Ile198= No assertion criteria EPS8L2-related disorder
- p.Leu81= No assertion criteria EPS8L2-related disorder
- p.Lys254= No assertion criteria EPS8L2-related disorder
- p.Val224= No assertion criteria EPS8L2-related disorder
Uncertain significance 194
- p.Arg193Gln Multiple submitters ⚠
- p.Arg245Gln Multiple submitters ⚠
- p.Arg272Trp Multiple submitters Meniere disease ⚠
- p.Arg365Cys Multiple submitters ⚠
- p.Arg506Leu Multiple submitters ⚠
- p.Asp265Asn Multiple submitters ⚠
- p.Asp352His Multiple submitters ⚠
- p.Gln3Lys Multiple submitters ⚠
- p.Gln537Glu Multiple submitters ⚠
- p.Glu239Gln Multiple submitters ⚠
- p.Gly19Ser Multiple submitters ⚠
- p.Gly214Asp Multiple submitters ⚠
- p.Gly5Arg Multiple submitters Meniere disease ⚠
- p.Ile363Thr Multiple submitters ⚠
- p.Lys30Arg Multiple submitters ⚠
- p.Lys640Arg Multiple submitters ⚠
- p.Met27Thr Multiple submitters hearing loss, autosomal recessive 106 ⚠
- p.Met62Leu Multiple submitters ⚠
- p.Pro407Leu Multiple submitters ⚠
- p.Ser143Leu Multiple submitters ⚠
- p.Ser169Asn Multiple submitters ⚠
- p.Ser617Thr Multiple submitters ⚠
- p.Thr69Met Multiple submitters hearing loss, autosomal recessive 106 ⚠
- p.Trp528Cys Multiple submitters hearing loss, autosomal recessive 106 ⚠
- p.Tyr565Asn Multiple submitters ⚠
- p.Val367Ile Multiple submitters ⚠
- p.Val497Ile Multiple submitters ⚠
- c.1342-19T>C Single submitter
- c.1753+10G>A Single submitter
- c.1934+8G>A Single submitter
- c.328-6C>G Single submitter
- c.984+3G>A Single submitter
- c.985-5C>A Single submitter hearing loss, autosomal recessive 106
- p.Ala246Thr Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Ala276Val Single submitter ⚠
- p.Ala341Thr Single submitter
- p.Ala341Val Single submitter
- p.Ala364Thr Single submitter ⚠
- p.Ala554Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Arg102Gly Single submitter ⚠
- p.Arg102Trp Single submitter ⚠
- p.Arg175Trp Single submitter ⚠
- p.Arg20Trp Single submitter ⚠
- p.Arg223His Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg305Gln Single submitter ⚠
- p.Arg305Pro Single submitter ⚠
- p.Arg305Trp Single submitter ⚠
- p.Arg307Gln Single submitter ⚠
- p.Arg365His Single submitter ⚠
- p.Arg401Gln Single submitter ⚠
- p.Arg401Trp Single submitter ⚠
- p.Arg403Cys Single submitter ⚠
- p.Arg453Gln Single submitter ⚠
- p.Arg453Pro Single submitter ⚠
- p.Arg506Gln Single submitter ⚠
- p.Arg605Lys Single submitter ⚠
- p.Arg710Lys Single submitter ⚠
- p.Arg711Ser Single submitter ⚠
- p.Arg711Thr Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asn260Ser Single submitter hearing loss, autosomal recessive 106 ⚠
- p.Asn337Lys Single submitter ⚠
- p.Asn509Ser Single submitter ⚠
- p.Asp105Ala Single submitter ⚠
- p.Asp105Asn Single submitter ⚠
- p.Asp142Gly Single submitter ⚠
- p.Asp156Asn Single submitter ⚠
- p.Asp352Asn Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Asp516His Single submitter ⚠
- p.Asp524Asn Single submitter ⚠
- p.Asp553Asn Single submitter ⚠
- p.Cys317Arg Single submitter ⚠
- p.Cys358dup Single submitter
- p.Cys358Tyr Single submitter ⚠
- p.Cys369Gly Single submitter ⚠
- p.Cys670Tyr Single submitter ⚠
- p.Gln183His Single submitter ⚠
- p.Gln203= Single submitter
- p.Gln285Glu Single submitter ⚠
- p.Gln55Lys Single submitter ⚠
- p.Gln609Glu Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu239Asp Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu393Lys Single submitter ⚠
- p.Glu397Asp Single submitter ⚠
- p.Glu424Asp Single submitter ⚠
- p.Glu510Lys Single submitter ⚠
- p.Glu548Lys Single submitter ⚠
- p.Glu585Lys Single submitter ⚠
- p.Glu85Asp Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly204Arg Single submitter ⚠
- p.Gly312Asp Single submitter ⚠
- p.Gly349Arg Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly525Ser Single submitter ⚠
- p.Gly539Ala Single submitter ⚠
- p.Gly555Arg Single submitter ⚠
- p.Gly562Cys Single submitter ⚠
- p.Gly567Arg Single submitter ⚠
- p.Gly567Val Single submitter ⚠
- p.Gly581Arg Single submitter ⚠
- p.Gly671Ser Single submitter ⚠
- p.Gly712Arg Single submitter ⚠
- p.His53Gln Single submitter ⚠
- p.His705Asn Single submitter ⚠
- p.Ile192Val Single submitter ⚠
- p.Ile354Val Single submitter ⚠
- p.Ile545Met Single submitter ⚠
- p.Ile598Phe Single submitter ⚠
- p.Ile652Val Single submitter ⚠
- p.Ile68Leu Single submitter ⚠
- p.Leu127Phe Single submitter ⚠
- p.Leu130Gln Single submitter ⚠
- p.Leu136Met Single submitter ⚠
- p.Leu500Pro Single submitter ⚠
- p.Leu546Val Single submitter ⚠
- p.Leu661His Single submitter ⚠
- p.Lys178Arg Single submitter ⚠
- p.Lys254del Single submitter
- p.Lys281Arg Single submitter ⚠
- p.Lys287Glu Single submitter ⚠
- p.Lys37Arg Single submitter ⚠
- p.Lys583Asn Single submitter ⚠
- p.Lys668Ile Single submitter ⚠
- p.Met180Ile Single submitter ⚠
- p.Met46Arg Single submitter ⚠
- p.Met493Ile Single submitter ⚠
- p.Met587Val Single submitter ⚠
- p.Met62Val Single submitter ⚠
- p.Met707Val Single submitter ⚠
- p.Phe269Cys Single submitter ⚠
- p.Phe348Val Single submitter ⚠
- p.Phe558Ser Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro133Ala Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro207Ser Single submitter ⚠
- p.Pro229Ser Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro425Leu Single submitter ⚠
- p.Pro426Ser Single submitter ⚠
- p.Pro444Leu Single submitter ⚠
- p.Pro468Ser Single submitter ⚠
- p.Pro470Thr Single submitter ⚠
- p.Pro542Ser Single submitter ⚠
- p.Pro557Ser Single submitter ⚠
- p.Pro576Ser Single submitter ⚠
- p.Pro577Ser Single submitter ⚠
- p.Pro580Ser Single submitter ⚠
- p.Pro623Leu Single submitter ⚠
- p.Ser123Asn Single submitter ⚠
- p.Ser169Arg Single submitter ⚠
- p.Ser169Thr Single submitter ⚠
- p.Ser197Pro Single submitter ⚠
- p.Ser21Phe Single submitter ⚠
- p.Ser373Phe Single submitter ⚠
- p.Ser390Leu Single submitter ⚠
- p.Ser455Phe Single submitter ⚠
- p.Ser50Leu Single submitter ⚠
- p.Ser512Leu Single submitter ⚠
- p.Ser695Pro Single submitter ⚠
- p.Ser8Asn Single submitter ⚠
- p.Thr119Met Single submitter ⚠
- p.Thr14Ile Single submitter ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr682Ser Single submitter ⚠
- p.Trp399Ser Single submitter ⚠
- p.Trp566Cys Single submitter ⚠
- p.Val139Leu Single submitter ⚠
- p.Val247Met Single submitter ⚠
- p.Val344Glu Single submitter ⚠
- p.Val344Leu Single submitter ⚠
- p.Val344Met Single submitter ⚠
- p.Val355Ile Single submitter ⚠
- p.Val377Met Single submitter ⚠
- p.Val416Leu Single submitter ⚠
- p.Val416Met Single submitter ⚠
- p.Val44Ile Single submitter ⚠
- p.Val96Leu Single submitter ⚠
- p.Arg381Cys No assertion criteria Meniere disease ⚠
- p.His154Tyr No assertion criteria hearing loss, autosomal recessive 106 ⚠
- p.Phe269Leu No assertion criteria Meniere disease ⚠
- p.Pro308Ser No assertion criteria Meniere disease ⚠