TNC — 672 ClinVar variants
All ClinVar germline TNC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 354 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 27 Conflicting · 110 Benign · 21 Benign/Likely benign · 166 Likely benign · 342 Uncertain significance
Full TNC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 354
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 vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
TNC p.Arg108His
Likely pathogenic
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Gln1391Arg Likely pathogenic Single submitter
- TNC p.Pro1064Leu Likely pathogenic Single submitter
-
TNC p.Thr1796Ser
Pathogenic
No assertion criteria
autosomal dominant nonsyndromic hearing loss 56
Predictors agree, ClinVar conflicts 22
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- TNC p.Ala1055Thr Conflicting Single submitter
-
TNC p.Ala981Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Arg1911Gln Conflicting Single submitter
- TNC p.Arg322Gln Conflicting Single submitter
-
TNC p.Asp209Asn
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Gln2165Arg
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Glu1836Lys Conflicting Single submitter
-
TNC p.Gly493Arg
Conflicting
Single submitter
TNC-related disorder
- TNC p.Gly545Val Conflicting Single submitter
- TNC p.His1494Arg Conflicting Single submitter
- TNC p.Ile1515Val Conflicting Single submitter
-
TNC p.Met1710Val
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Ser1307Arg Conflicting Single submitter
- TNC p.Ser1712Thr Conflicting Single submitter
- TNC p.Ser881Ala Conflicting Single submitter
- TNC p.Thr141Ala Conflicting Single submitter
-
TNC p.Thr1993Met
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Thr799Ala Conflicting Single submitter
-
TNC p.Val1773Met
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Val37Met Conflicting Single submitter
-
TNC p.Val902Ile
Conflicting
Single submitter
TNC-related disorder
-
TNC p.Gly203Val
Conflicting
No assertion criteria
TNC-related disorder
Predictors lean, ClinVar uncertain 237
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 237
-
TNC p.Arg669His
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Asn507Lys Uncertain significance Multiple submitters
- TNC p.Asp2059Glu Uncertain significance Multiple submitters
-
TNC p.Asp831Asn
Uncertain significance
Multiple submitters
hearing loss disorder
-
TNC p.Asp971Asn
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Gln360Arg Uncertain significance Multiple submitters
- TNC p.Glu1723Lys Uncertain significance Multiple submitters
- TNC p.Gly1784Asp Uncertain significance Multiple submitters
-
TNC p.Ile1148Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Ile1970Val Uncertain significance Multiple submitters
- TNC p.Leu1456Val Uncertain significance Multiple submitters
- TNC p.Pro1427Gln Uncertain significance Multiple submitters
- TNC p.Pro957Leu Uncertain significance Multiple submitters
- TNC p.Ser616Arg Uncertain significance Multiple submitters
- TNC p.Thr1915Ala Uncertain significance Multiple submitters
- TNC p.Thr430Ala Uncertain significance Multiple submitters
-
TNC p.Thr987Met
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Val1898Ile
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Val814Ile Uncertain significance Multiple submitters
- TNC p.Val993Ile Uncertain significance Multiple submitters
- TNC p.Ala1065Thr Uncertain significance Single submitter
- TNC p.Ala1074Val Uncertain significance Single submitter
- TNC p.Ala1100Val Uncertain significance Single submitter
- TNC p.Ala1271Val Uncertain significance Single submitter
- TNC p.Ala1373Ser Uncertain significance Single submitter
- TNC p.Ala1401Ser Uncertain significance Single submitter
- TNC p.Ala1410Ser Uncertain significance Single submitter
- TNC p.Ala1522Thr Uncertain significance Single submitter
- TNC p.Ala1704Ser Uncertain significance Single submitter
- TNC p.Ala19Thr Uncertain significance Single submitter
- TNC p.Ala2083Val Uncertain significance Single submitter
- TNC p.Ala2201Ser Uncertain significance Single submitter
- TNC p.Ala3Ser Uncertain significance Single submitter
- TNC p.Ala528Glu Uncertain significance Single submitter
- TNC p.Ala706Thr Uncertain significance Single submitter
- TNC p.Ala706Val Uncertain significance Single submitter
- TNC p.Ala78Thr Uncertain significance Single submitter
- TNC p.Ala977Val Uncertain significance Single submitter
- TNC p.Arg1014Cys Uncertain significance Single submitter
-
TNC p.Arg1016His
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Arg109Gln Uncertain significance Single submitter
- TNC p.Arg109Trp Uncertain significance Single submitter
- TNC p.Arg1309His Uncertain significance Single submitter
- TNC p.Arg1516Gln Uncertain significance Single submitter
- TNC p.Arg1637His Uncertain significance Single submitter
- TNC p.Arg1673Cys Uncertain significance Single submitter
- TNC p.Arg1891Lys Uncertain significance Single submitter
- TNC p.Arg1908Gln Uncertain significance Single submitter
- TNC p.Arg2029Cys Uncertain significance Single submitter
- TNC p.Arg2050His Uncertain significance Single submitter
- TNC p.Arg2073Pro Uncertain significance Single submitter
- TNC p.Arg2073Trp Uncertain significance Single submitter
- TNC p.Arg2077Trp Uncertain significance Single submitter
- TNC p.Arg2151Cys Uncertain significance Single submitter
- TNC p.Arg391Trp Uncertain significance Single submitter
- TNC p.Arg438Gln Uncertain significance Single submitter
- TNC p.Arg448His Uncertain significance Single submitter
- TNC p.Arg497Gln Uncertain significance Single submitter
-
TNC p.Arg541His
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Arg747Gln Uncertain significance Single submitter
- TNC p.Arg769Gln Uncertain significance Single submitter
- TNC p.Arg791Gln Uncertain significance Single submitter
- TNC p.Arg802Cys Uncertain significance Single submitter
- TNC p.Arg846His Uncertain significance Single submitter
- TNC p.Asn1018Ser Uncertain significance Single submitter
- TNC p.Asn131Lys Uncertain significance Single submitter
- TNC p.Asn1372Lys Uncertain significance Single submitter
-
TNC p.Asn184Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Asn2060Ile Uncertain significance Single submitter
- TNC p.Asn2118Ser Uncertain significance Single submitter
- TNC p.Asn287Ser Uncertain significance Single submitter
-
TNC p.Asn297Ser
Uncertain significance
Single submitter
myopia
- TNC p.Asn317Ser Uncertain significance Single submitter
- TNC p.Asn789Asp Uncertain significance Single submitter
- TNC p.Asp1462Asn Uncertain significance Single submitter
- TNC p.Asp1539Glu Uncertain significance Single submitter
- TNC p.Asp156Gly Uncertain significance Single submitter
- TNC p.Asp1758Asn Uncertain significance Single submitter
- TNC p.Asp1827Tyr Uncertain significance Single submitter
- TNC p.Asp1827Val Uncertain significance Single submitter
- TNC p.Asp2088Asn Uncertain significance Single submitter
- TNC p.Asp277Asn Uncertain significance Single submitter
- TNC p.Asp321Asn Uncertain significance Single submitter
- TNC p.Asp504His Uncertain significance Single submitter
-
TNC p.Asp520Asn
Uncertain significance
Single submitter
TNC-related disorder
- TNC p.Asp990Asn Uncertain significance Single submitter
- TNC p.Cys346Tyr Uncertain significance Single submitter
- TNC p.Cys403Tyr Uncertain significance Single submitter
- TNC p.Cys496Ser Uncertain significance Single submitter
-
TNC p.Cys527Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Cys563Gly Uncertain significance Single submitter
- TNC p.Cys580Arg Uncertain significance Single submitter
- TNC p.Cys611Trp Uncertain significance Single submitter
- TNC p.Gln1030Pro Uncertain significance Single submitter
- TNC p.Gln1047Arg Uncertain significance Single submitter
- TNC p.Gln436His Uncertain significance Single submitter
- TNC p.Gln515Glu Uncertain significance Single submitter
- TNC p.Gln680Leu Uncertain significance Single submitter
- TNC p.Glu1048Lys Uncertain significance Single submitter
- TNC p.Glu1329Asp Uncertain significance Single submitter
- TNC p.Glu1466Gln Uncertain significance Single submitter
- TNC p.Glu1466Lys Uncertain significance Single submitter
- TNC p.Glu1533Gln Uncertain significance Single submitter
- TNC p.Glu1574Gln Uncertain significance Single submitter
- TNC p.Glu1585Asp Uncertain significance Single submitter
- TNC p.Glu170Lys Uncertain significance Single submitter
- TNC p.Glu189Lys Uncertain significance Single submitter
- TNC p.Glu2034Lys Uncertain significance Single submitter
- TNC p.Glu240Lys Uncertain significance Single submitter
- TNC p.Glu333Gln Uncertain significance Single submitter
- TNC p.Glu333Lys Uncertain significance Single submitter
- TNC p.Glu365Ala Uncertain significance Single submitter
- TNC p.Glu405Gly Uncertain significance Single submitter
- TNC p.Glu451Lys Uncertain significance Single submitter
- TNC p.Glu529Gln Uncertain significance Single submitter
- TNC p.Glu551Val Uncertain significance Single submitter
- TNC p.Glu582Lys Uncertain significance Single submitter
- TNC p.Glu661Lys Uncertain significance Single submitter
-
TNC p.Glu731Ala
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Glu810Gln Uncertain significance Single submitter
- TNC p.Glu834Gly Uncertain significance Single submitter
- TNC p.Glu855Lys Uncertain significance Single submitter
- TNC p.Glu85Lys Uncertain significance Single submitter
- TNC p.Glu912Gln Uncertain significance Single submitter
- TNC p.Glu998Asp Uncertain significance Single submitter
- TNC p.Gly1028Arg Uncertain significance Single submitter
- TNC p.Gly1281Ala Uncertain significance Single submitter
- TNC p.Gly1419Arg Uncertain significance Single submitter
-
TNC p.Gly1497Ala
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Gly163Cys Uncertain significance Single submitter
- TNC p.Gly163Ser Uncertain significance Single submitter
- TNC p.Gly171Val Uncertain significance Single submitter
- TNC p.Gly179Val Uncertain significance Single submitter
- TNC p.Gly2111Asp Uncertain significance Single submitter
- TNC p.Gly229Asp Uncertain significance Single submitter
- TNC p.Gly261Cys Uncertain significance Single submitter
- TNC p.Gly276Asp Uncertain significance Single submitter
- TNC p.Gly292Arg Uncertain significance Single submitter
- TNC p.Gly36Arg Uncertain significance Single submitter
- TNC p.Gly478Ser Uncertain significance Single submitter
- TNC p.Gly509Asp Uncertain significance Single submitter
- TNC p.Gly509Cys Uncertain significance Single submitter
- TNC p.Gly540Arg Uncertain significance Single submitter
- TNC p.Gly571Arg Uncertain significance Single submitter
- TNC p.Gly617Val Uncertain significance Single submitter
- TNC p.Gly672Arg Uncertain significance Single submitter
- TNC p.Gly94Glu Uncertain significance Single submitter
- TNC p.His2079Asn Uncertain significance Single submitter
- TNC p.His537Arg Uncertain significance Single submitter
- TNC p.Ile1313Thr Uncertain significance Single submitter
Predictors split 91
The independent predictors disagree with each other — read with care.
-
TNC p.Arg1066Cys
Likely benign
Multiple submitters
Meniere disease
- TNC p.Arg1127Trp Uncertain significance Multiple submitters
- TNC p.Arg1491Gln Likely benign Multiple submitters
-
TNC p.Arg448Gly
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Arg608Cys
Uncertain significance
Multiple submitters
hearing loss disorder
-
TNC p.Arg707Thr
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Arg747Trp
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Cys140Tyr Uncertain significance Multiple submitters
-
TNC p.Glu21Lys
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Gly1996Ala
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
-
TNC p.Gly210Ser
Benign/Likely benign
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Thr1095Ile
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Thr1138Met
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Thr638Met Uncertain significance Multiple submitters
- TNC p.Val1358Asp Uncertain significance Multiple submitters
- TNC p.Ala9Glu Likely benign Single submitter
- TNC p.Arg1309Leu Uncertain significance Single submitter
- TNC p.Arg1516Trp Uncertain significance Single submitter
-
TNC p.Arg164Gly
Uncertain significance
Single submitter
hearing loss disorder
- TNC p.Arg1911Trp Conflicting Single submitter
- TNC p.Arg2033Cys Uncertain significance Single submitter
-
TNC p.Arg2050Cys
Likely benign
Single submitter
hearing loss disorder
- TNC p.Arg2198Cys Uncertain significance Single submitter
- TNC p.Arg291Ser Uncertain significance Single submitter
- TNC p.Arg324Cys Uncertain significance Single submitter
- TNC p.Arg384Cys Uncertain significance Single submitter
- TNC p.Arg417Cys Likely benign Single submitter
- TNC p.Arg438Trp Likely benign Single submitter
- TNC p.Arg499Cys Uncertain significance Single submitter
- TNC p.Arg846Cys Uncertain significance Single submitter
- TNC p.Arg876Cys Uncertain significance Single submitter
- TNC p.Arg924Ile Uncertain significance Single submitter
- TNC p.Asn51Lys Uncertain significance Single submitter
- TNC p.Asn915Lys Uncertain significance Single submitter
- TNC p.Asp1098Val Uncertain significance Single submitter
- TNC p.Asp1630Glu Likely benign Single submitter
- TNC p.Asp1634His Uncertain significance Single submitter
- TNC p.Asp2160Val Uncertain significance Single submitter
- TNC p.Cys146Arg Uncertain significance Single submitter
- TNC p.Cys190Tyr Uncertain significance Single submitter
- TNC p.Glu1115Lys Uncertain significance Single submitter
- TNC p.Glu1341Gly Uncertain significance Single submitter
-
TNC p.Glu2071Lys
Conflicting
Single submitter
hearing loss disorder
-
TNC p.Glu2176Gly
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
-
TNC p.Glu780Asp
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Glu870Lys Uncertain significance Single submitter
- TNC p.Gly1086Val Uncertain significance Single submitter
-
TNC p.Gly1567Glu
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Gly304Ser Uncertain significance Single submitter
- TNC p.Gly400Ala Uncertain significance Single submitter
- TNC p.Gly404Trp Uncertain significance Single submitter
- TNC p.Gly428Val Uncertain significance Single submitter
- TNC p.Gly490Ser Uncertain significance Single submitter
- TNC p.Gly576Ser Uncertain significance Single submitter
- TNC p.Gly583Ser Uncertain significance Single submitter
-
TNC p.Gly792Cys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 56
- TNC p.Gly933Glu Uncertain significance Single submitter
- TNC p.Leu1077Arg Uncertain significance Single submitter
- TNC p.Leu1350Val Uncertain significance Single submitter
- TNC p.Leu1508Phe Uncertain significance Single submitter
- TNC p.Leu1577Phe Uncertain significance Single submitter
- TNC p.Leu1626Pro Uncertain significance Single submitter
- TNC p.Leu1690Phe Uncertain significance Single submitter
- TNC p.Leu696Arg Uncertain significance Single submitter
-
TNC p.Lys1871Glu
Uncertain significance
Single submitter
hearing loss disorder
- TNC p.Lys989Asn Uncertain significance Single submitter
- TNC p.Pro1412Ser Uncertain significance Single submitter
- TNC p.Pro1500Arg Uncertain significance Single submitter
- TNC p.Pro595Leu Uncertain significance Single submitter
- TNC p.Ser1719Leu Uncertain significance Single submitter
- TNC p.Ser1725Leu Benign Single submitter
- TNC p.Thr1323Ala Uncertain significance Single submitter
- TNC p.Thr1368Ala Uncertain significance Single submitter
- TNC p.Trp742Cys Uncertain significance Single submitter
- TNC p.Tyr1145Asp Uncertain significance Single submitter
- TNC p.Tyr1744Cys Uncertain significance Single submitter
- TNC p.Tyr1921Cys Uncertain significance Single submitter
- TNC p.Tyr2099His Uncertain significance Single submitter
- TNC p.Val1029Met Uncertain significance Single submitter
- TNC p.Val1108Met Conflicting Single submitter
- TNC p.Val1122Met Uncertain significance Single submitter
- TNC p.Val1324Ala Uncertain significance Single submitter
- TNC p.Val1342Phe Uncertain significance Single submitter
- TNC p.Val1381Leu Uncertain significance Single submitter
- TNC p.Val1757Met Uncertain significance Single submitter
- TNC p.Val295Met Likely benign Single submitter
- TNC p.Val574Met Likely benign Single submitter
- TNC p.Arg497Trp Uncertain significance No assertion criteria
-
TNC p.Glu743Lys
Uncertain significance
No assertion criteria
Meniere disease
-
TNC p.Gly617Arg
Uncertain significance
No assertion criteria
TNC-related disorder
-
TNC p.Val902Asp
Uncertain significance
No assertion criteria
Meniere disease
All TNC variants
Pathogenic 3
- c.5512+1G>A Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Gly1749= No assertion criteria autosomal dominant nonsyndromic hearing loss 56
- p.Thr1796Ser No assertion criteria autosomal dominant nonsyndromic hearing loss 56 ⚠
Likely pathogenic 3
- p.Arg108His Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gln1391Arg Single submitter ⚠
- p.Pro1064Leu Single submitter ⚠
Conflicting classifications of pathogenicity 27
- p.Ala1055Thr Single submitter ⚠
- p.Ala981Thr Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Arg1911Gln Single submitter ⚠
- p.Arg1911Trp Single submitter ⚠
- p.Arg322Gln Single submitter ⚠
- p.Asp209Asn Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gln2165Arg Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Glu1836Lys Single submitter ⚠
- p.Glu2071Lys Single submitter hearing loss disorder ⚠
- p.Glu780Asp Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gly493Arg Single submitter TNC-related disorder ⚠
- p.Gly545Val Single submitter ⚠
- p.Gly792Cys Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.His1494Arg Single submitter ⚠
- p.Ile1515Val Single submitter ⚠
- p.Met1710Val Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Ser1307Arg Single submitter ⚠
- p.Ser1712Thr Single submitter ⚠
- p.Ser881Ala Single submitter ⚠
- p.Thr141Ala Single submitter ⚠
- p.Thr1993Met Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Thr799Ala Single submitter ⚠
- p.Val1108Met Single submitter ⚠
- p.Val1773Met Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Val37Met Single submitter ⚠
- p.Val902Ile Single submitter TNC-related disorder ⚠
- p.Gly203Val No assertion criteria TNC-related disorder ⚠
Benign 110
- c.1867+31T>A Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- c.1868-229G>C Multiple submitters
- c.1868-234C>A Multiple submitters
- c.2131+38T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- c.2247+38G>A Multiple submitters
- c.2248-32C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- c.2674+161T>C Multiple submitters
- c.2860+45G>C Multiple submitters
- c.2951-255C>T Multiple submitters
- c.2951-43T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- c.4034-71G>A Multiple submitters
- c.4579+43T>A Multiple submitters
- c.458-114G>C Multiple submitters
- c.458-170G>C Multiple submitters
- c.458-198A>G Multiple submitters
- c.458-89A>C Multiple submitters
- c.5126-47A>G Multiple submitters
- c.5248+98T>G Multiple submitters
- c.5249-17C>G Multiple submitters
- c.5393-35A>G Multiple submitters
- c.5512+123A>T Multiple submitters
- c.5787+89C>T Multiple submitters
- c.5920+175G>A Multiple submitters
- c.5921-192T>A Multiple submitters
- c.6072+107C>A Multiple submitters
- c.6169+22A>G Multiple submitters
- c.6170-28C>T Multiple submitters
- c.6332-93C>T Multiple submitters
- c.6496-6del Multiple submitters
- p.Ala1055= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ala1096Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ala1781Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1066His Multiple submitters
- p.Arg1698Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1731= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1891= Multiple submitters
- p.Arg2033= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg791= Multiple submitters
- p.Arg797= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Asn2161Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Asp433Asn Multiple submitters Meniere disease
- p.Asp736Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Asp854= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Gln539Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Gln603= Multiple submitters
- p.Gln680Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Glu2008Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Glu683= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Gly2048= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Gly213Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Gly261Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ile1677Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ser65= Multiple submitters
- p.Thr1394= Multiple submitters
- p.Thr1525= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Thr1580= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Thr1734= Multiple submitters
- p.Thr1915= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Val232= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Val548Met Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Val605Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Val92= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- c.1867+274A>G Single submitter
- c.2132-247A>C Single submitter
- c.2132-261T>C Single submitter
- c.2132-317C>T Single submitter
- c.2247+200C>G Single submitter
- c.2405-210A>G Single submitter
- c.2405-251C>G Single submitter
- c.2675-204G>A Single submitter
- c.2950+218G>A Single submitter
- c.2950+37G>C Single submitter
- c.3214+175T>C Single submitter
- c.3215-247A>T Single submitter
- c.4033+111C>T Single submitter
- c.4033+308del Single submitter
- c.4306+119C>T Single submitter
- c.4306+263T>G Single submitter
- c.4307-48_4307-45del Single submitter
- c.4579+4208C>G Single submitter
- c.458-292AC[16] Single submitter
- c.458-292AC[17] Single submitter
- c.458-292AC[22] Single submitter
- c.458-292AC[7] Single submitter
- c.4852+244C>T Single submitter
- c.4852+289C>A Single submitter
- c.4852+298T>A Single submitter
- c.5125+201G>A Single submitter
- c.5126-329A>C Single submitter
- c.5249-217del Single submitter
- c.5249-217T>C Single submitter
- c.5249-218_5249-217del Single submitter
- c.5249-220_5249-217del Single submitter
- c.5249-220del Single submitter
- c.5249-220T>C Single submitter
- c.5249-220T>G Single submitter
- c.5249-224_5249-223insG Single submitter
- c.5249-225del Single submitter
- c.5249-225G>C Single submitter
- c.5249-227C>G Single submitter
- c.5249-230C>T Single submitter
- c.5249-231T>C Single submitter
- c.5392+17GT[10] Single submitter
- c.5392+17GT[11] Single submitter
- c.5392+235C>A Single submitter
- c.5787+114dup Single submitter
- c.5788-190C>T Single submitter
- c.6072+259C>G Single submitter
- c.6072+272del Single submitter
- p.Ser1725Leu Single submitter ⚠
Benign/Likely benign 21
- p.Arg1118Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1118Trp Multiple submitters
- p.Arg1698Pro Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1741= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg448Gly Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Arg503Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg707Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Asn441Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Cys315= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Cys573= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Glu21Lys Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gly145Val Multiple submitters
- p.Gly210Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.His52= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ile830= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ile874Val Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Leu2002= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Leu25= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Lys32= Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Ser1125Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Val2167Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 56
Likely benign 166
- c.2860+3G>A Multiple submitters
- c.2861-17G>T Multiple submitters
- c.3487+92G>A Multiple submitters
- c.5657-9C>T Multiple submitters
- c.5787+14A>G Multiple submitters nonsyndromic genetic hearing loss
- c.6072+90G>A Multiple submitters
- c.6169+127C>G Multiple submitters
- p.Ala368= Multiple submitters
- p.Ala39Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 56
- p.Arg1066Cys Multiple submitters Meniere disease ⚠
- p.Arg1336Gln Multiple submitters
- p.Arg1491Gln Multiple submitters ⚠
- p.Arg197Gln Multiple submitters
- p.Arg2077Gln Multiple submitters
- p.Arg30Trp Multiple submitters
- p.Arg391Gln Multiple submitters
- p.Arg648Gln Multiple submitters
- p.Asn980= Multiple submitters
- p.Asp513= Multiple submitters
- p.Cys341= Multiple submitters
- p.Gln570= Multiple submitters
- p.Gly171Arg Multiple submitters
- p.His935= Multiple submitters
- p.Ile29= Multiple submitters
- p.Phe2026= Multiple submitters
- p.Ser1703= Multiple submitters
- p.Ser2091= Multiple submitters
- p.Thr1278= Multiple submitters
- p.Thr1937Ile Multiple submitters
- p.Tyr837= Multiple submitters
- p.Val1343Ile Multiple submitters
- c.1867+14C>A Single submitter
- c.1868-5G>T Single submitter
- c.2404+11C>A Single submitter
- c.2404+14T>A Single submitter
- c.2674+18G>A Single submitter
- c.2675-205C>T Single submitter
- c.2861-10C>T Single submitter
- c.2950+138A>G Single submitter
- c.2951-314T>G Single submitter
- c.3214+281T>C Single submitter
- c.3487+4T>C Single submitter
- c.4033+243GT[5] Single submitter
- c.4033+265A>G Single submitter
- c.4034-104dup Single submitter
- c.457+17C>T Single submitter
- c.4580-198C>T Single submitter
- c.4852+19G>A Single submitter
- c.5248+4G>T Single submitter
- c.5248+6A>T Single submitter
- c.5249-231_5249-229del Single submitter
- c.5249-248G>A Single submitter
- c.5392+17GT[12] Single submitter
- c.5392+17GT[8] Single submitter
- c.5512+68G>A Single submitter
- c.5787+13T>C Single submitter
- c.5787+18C>G Single submitter
- c.6169+233A>T Single submitter
- c.6169+255G>A Single submitter
- c.6495+11C>T Single submitter
- c.6496-17_6496-16insC Single submitter
- c.6496-17_6496-16insCTC Single submitter
- c.6496-18_6496-16del Single submitter
- c.6496-38CT[10] Single submitter
- c.6496-38CT[7] Single submitter
- c.6496-38CT[9] Single submitter
- c.6496-6dup Single submitter
- p.Ala116= Single submitter
- p.Ala1354= Single submitter
- p.Ala1619= Single submitter
- p.Ala2009= Single submitter
- p.Ala2066= Single submitter
- p.Ala243Thr Single submitter
- p.Ala9Glu Single submitter ⚠
- p.Arg103His Single submitter
- p.Arg1127= Single submitter
- p.Arg125= Single submitter
- p.Arg1422Gln Single submitter
- p.Arg2033His Single submitter
- p.Arg2050Cys Single submitter hearing loss disorder ⚠
- p.Arg384His Single submitter
- p.Arg417Cys Single submitter ⚠
- p.Arg438Trp Single submitter ⚠
- p.Arg608His Single submitter
- p.Asn1301Ser Single submitter
- p.Asn2035Asp Single submitter
- p.Asn38= Single submitter
- p.Asn612= Single submitter
- p.Asp1270= Single submitter
- p.Asp1630Glu Single submitter ⚠
- p.Asp1648= Single submitter
- p.Asp1656= Single submitter
- p.Asp1758= Single submitter
- p.Asp1886= Single submitter
- p.Asp395= Single submitter
- p.Asp816= Single submitter
- p.Asp841= Single submitter
- p.Cys236= Single submitter
- p.Gln1073Lys Single submitter
- p.Gln2038Arg Single submitter
- p.Gln500= Single submitter
- p.Gln577= Single submitter
- p.Glu1102= Single submitter
- p.Gly143= Single submitter
- p.Gly1835= Single submitter
- p.Gly2046= Single submitter
- p.Gly2156= Single submitter
- p.Gly244Arg Single submitter
- p.Gly307= Single submitter
- p.Gly323= Single submitter
- p.Gly509= Single submitter
- p.Gly583= Single submitter
- p.Gly772= Single submitter
- p.His660= Single submitter
- p.Ile1974Thr Single submitter
- p.Ile237Val Single submitter
- p.Ile690= Single submitter
- p.Leu148Pro Single submitter
- p.Leu893= Single submitter
- p.Phe1286Ser Single submitter
- p.Phe1465= Single submitter
- p.Pro1008= Single submitter
- p.Pro1064= Single submitter
- p.Pro1337= Single submitter
- p.Pro1733= Single submitter
- p.Pro1910= Single submitter
- p.Pro2188= Single submitter
- p.Pro83= Single submitter
- p.Ser1558= Single submitter
- p.Ser1900= Single submitter
- p.Thr1081= Single submitter
- p.Thr1303= Single submitter
- p.Thr1368= Single submitter
- p.Thr1411= Single submitter
- p.Thr1562Met Single submitter
- p.Thr2017= Single submitter
- p.Thr523= Single submitter
- p.Thr675= Single submitter
- p.Thr710= Single submitter
- p.Thr891= Single submitter
- p.Thr950= Single submitter
- p.Thr987= Single submitter
- p.Tyr289= Single submitter
- p.Val1051= Single submitter
- p.Val295Met Single submitter ⚠
- p.Val574Met Single submitter ⚠
- p.Val630Ile Single submitter
- p.Val692= Single submitter
- p.Val814= Single submitter
- c.2951-9T>C No assertion criteria TNC-related disorder
- c.6073-4A>G No assertion criteria TNC-related disorder
- p.Ala1798= No assertion criteria TNC-related disorder
- p.Arg1741Gln No assertion criteria TNC-related disorder
- p.Arg2198His No assertion criteria TNC-related disorder
- p.Arg33Gln No assertion criteria TNC-related disorder
- p.Arg572His No assertion criteria TNC-related disorder
- p.Asp575= No assertion criteria TNC-related disorder
- p.Glu1622= No assertion criteria TNC-related disorder
- p.Gly1359Asp No assertion criteria TNC-related disorder
- p.Ile821= No assertion criteria TNC-related disorder
- p.Ser65Leu No assertion criteria TNC-related disorder
- p.Ser81= No assertion criteria TNC-related disorder
- p.Thr1095= No assertion criteria TNC-related disorder
- p.Thr1461= No assertion criteria TNC-related disorder
- p.Tyr869= No assertion criteria TNC-related disorder
- p.Val938Ala No assertion criteria TNC-related disorder
Uncertain significance 342
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1127Trp Multiple submitters ⚠
- p.Arg608Cys Multiple submitters hearing loss disorder ⚠
- p.Arg669His Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Arg747Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Asn507Lys Multiple submitters ⚠
- p.Asp2059Glu Multiple submitters ⚠
- p.Asp831Asn Multiple submitters hearing loss disorder ⚠
- p.Asp971Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Cys140Tyr Multiple submitters ⚠
- p.Gln360Arg Multiple submitters ⚠
- p.Glu1723Lys Multiple submitters ⚠
- p.Gly1759Arg Multiple submitters
- p.Gly1784Asp Multiple submitters ⚠
- p.Gly1996Ala Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Ile1148Val Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Ile1970Val Multiple submitters ⚠
- p.Leu1456Val Multiple submitters ⚠
- p.Lys2063Glu Multiple submitters
- p.Pro1427Gln Multiple submitters ⚠
- p.Pro957Leu Multiple submitters ⚠
- p.Ser616Arg Multiple submitters ⚠
- p.Thr1095Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Thr1138Met Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Thr1915Ala Multiple submitters ⚠
- p.Thr430Ala Multiple submitters ⚠
- p.Thr638Met Multiple submitters ⚠
- p.Thr987Met Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Val1358Asp Multiple submitters ⚠
- p.Val1898Ile Multiple submitters autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Val814Ile Multiple submitters ⚠
- p.Val993Ile Multiple submitters ⚠
- c.4306+20A>G Single submitter
- c.6495+14G>A Single submitter
- c.6496-18del Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Ala1010Thr Single submitter
- p.Ala1065Thr Single submitter ⚠
- p.Ala1074Val Single submitter ⚠
- p.Ala1100Val Single submitter ⚠
- p.Ala1271Val Single submitter ⚠
- p.Ala1373Ser Single submitter ⚠
- p.Ala1401Ser Single submitter ⚠
- p.Ala1410Ser Single submitter ⚠
- p.Ala1522Thr Single submitter ⚠
- p.Ala1704Ser Single submitter ⚠
- p.Ala1815Thr Single submitter
- p.Ala19Thr Single submitter ⚠
- p.Ala2083Val Single submitter ⚠
- p.Ala2201Ser Single submitter ⚠
- p.Ala3Ser Single submitter ⚠
- p.Ala528Glu Single submitter ⚠
- p.Ala706Thr Single submitter ⚠
- p.Ala706Val Single submitter ⚠
- p.Ala78Thr Single submitter ⚠
- p.Ala977Val Single submitter ⚠
- p.Arg1014Cys Single submitter ⚠
- p.Arg1016His Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Arg109Gln Single submitter ⚠
- p.Arg109Trp Single submitter ⚠
- p.Arg1309His Single submitter ⚠
- p.Arg1309Leu Single submitter ⚠
- p.Arg1516Gln Single submitter ⚠
- p.Arg1516Trp Single submitter ⚠
- p.Arg1637His Single submitter ⚠
- p.Arg164Gly Single submitter hearing loss disorder ⚠
- p.Arg1673Cys Single submitter ⚠
- p.Arg1891Lys Single submitter ⚠
- p.Arg1908Gln Single submitter ⚠
- p.Arg1908Ter Single submitter
- p.Arg2029Cys Single submitter ⚠
- p.Arg2033Cys Single submitter ⚠
- p.Arg2050His Single submitter ⚠
- p.Arg2073Pro Single submitter ⚠
- p.Arg2073Trp Single submitter ⚠
- p.Arg2077Trp Single submitter ⚠
- p.Arg2151Cys Single submitter ⚠
- p.Arg2198Cys Single submitter ⚠
- p.Arg291Ser Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg384Cys Single submitter ⚠
- p.Arg391Trp Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg448His Single submitter ⚠
- p.Arg479Cys Single submitter
- p.Arg497Gln Single submitter ⚠
- p.Arg499Cys Single submitter ⚠
- p.Arg541His Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Arg669Cys Single submitter
- p.Arg747Gln Single submitter ⚠
- p.Arg769Gln Single submitter ⚠
- p.Arg791Gln Single submitter ⚠
- p.Arg802Cys Single submitter ⚠
- p.Arg846Cys Single submitter ⚠
- p.Arg846His Single submitter ⚠
- p.Arg876Cys Single submitter ⚠
- p.Arg924Ile Single submitter ⚠
- p.Asn1018Ser Single submitter ⚠
- p.Asn1112fs Single submitter
- p.Asn131Lys Single submitter ⚠
- p.Asn1372Lys Single submitter ⚠
- p.Asn184Ser Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Asn2060Ile Single submitter ⚠
- p.Asn2118Ser Single submitter ⚠
- p.Asn287Ser Single submitter ⚠
- p.Asn297Ser Single submitter myopia ⚠
- p.Asn317Ser Single submitter ⚠
- p.Asn51Lys Single submitter ⚠
- p.Asn789Asp Single submitter ⚠
- p.Asn915Lys Single submitter ⚠
- p.Asp1098Val Single submitter ⚠
- p.Asp1462Asn Single submitter ⚠
- p.Asp1539Glu Single submitter ⚠
- p.Asp156Gly Single submitter ⚠
- p.Asp1634His Single submitter ⚠
- p.Asp1758Asn Single submitter ⚠
- p.Asp1827Tyr Single submitter ⚠
- p.Asp1827Val Single submitter ⚠
- p.Asp2078Asn Single submitter
- p.Asp2088Asn Single submitter ⚠
- p.Asp2160Val Single submitter ⚠
- p.Asp277Asn Single submitter ⚠
- p.Asp321Asn Single submitter ⚠
- p.Asp504His Single submitter ⚠
- p.Asp520Asn Single submitter TNC-related disorder ⚠
- p.Asp816Gly Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Asp894Asn Single submitter
- p.Asp990Asn Single submitter ⚠
- p.Cys146Arg Single submitter ⚠
- p.Cys190Tyr Single submitter ⚠
- p.Cys346Tyr Single submitter ⚠
- p.Cys403Tyr Single submitter ⚠
- p.Cys496Ser Single submitter ⚠
- p.Cys527Ser Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Cys563Gly Single submitter ⚠
- p.Cys580Arg Single submitter ⚠
- p.Cys611Trp Single submitter ⚠
- p.Gln1030Pro Single submitter ⚠
- p.Gln1047Arg Single submitter ⚠
- p.Gln1099Asn Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Gln436His Single submitter ⚠
- p.Gln515Glu Single submitter ⚠
- p.Gln680Leu Single submitter ⚠
- p.Gln680Trp Single submitter
- p.Glu1048Lys Single submitter ⚠
- p.Glu1115Lys Single submitter ⚠
- p.Glu1329Asp Single submitter ⚠
- p.Glu1341Gly Single submitter ⚠
- p.Glu1466Gln Single submitter ⚠
- p.Glu1466Lys Single submitter ⚠
- p.Glu1533Gln Single submitter ⚠
- p.Glu1574Gln Single submitter ⚠
- p.Glu1585Asp Single submitter ⚠
- p.Glu170Lys Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu2034Lys Single submitter ⚠
- p.Glu2176Gly Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Glu240Lys Single submitter ⚠
- p.Glu333Gln Single submitter ⚠
- p.Glu333Lys Single submitter ⚠
- p.Glu365Ala Single submitter ⚠
- p.Glu405Gly Single submitter ⚠
- p.Glu451Lys Single submitter ⚠
- p.Glu529Gln Single submitter ⚠
- p.Glu551Val Single submitter ⚠
- p.Glu582Lys Single submitter ⚠
- p.Glu661Lys Single submitter ⚠
- p.Glu731Ala Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Glu731Lys Single submitter
- p.Glu810Gln Single submitter ⚠
- p.Glu834Gly Single submitter ⚠
- p.Glu855Lys Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Glu870Lys Single submitter ⚠
- p.Glu912Gln Single submitter ⚠
- p.Glu998Asp Single submitter ⚠
- p.Gly1028Arg Single submitter ⚠
- p.Gly1046Val Single submitter
- p.Gly1086Val Single submitter ⚠
- p.Gly1281Ala Single submitter ⚠
- p.Gly1419Arg Single submitter ⚠
- p.Gly1497Ala Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gly1567Glu Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Gly163Cys Single submitter ⚠
- p.Gly163Ser Single submitter ⚠
- p.Gly171Val Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly2111Asp Single submitter ⚠
- p.Gly229Asp Single submitter ⚠
- p.Gly261Cys Single submitter ⚠
- p.Gly276= Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Gly276Asp Single submitter ⚠
- p.Gly292Arg Single submitter ⚠
- p.Gly304Ser Single submitter ⚠
- p.Gly335Ala Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Gly36Arg Single submitter ⚠
- p.Gly400Ala Single submitter ⚠
- p.Gly404Trp Single submitter ⚠
- p.Gly428Val Single submitter ⚠
- p.Gly478Ser Single submitter ⚠
- p.Gly490Ser Single submitter ⚠
- p.Gly509Asp Single submitter ⚠
- p.Gly509Cys Single submitter ⚠
- p.Gly540Arg Single submitter ⚠
- p.Gly571Arg Single submitter ⚠
- p.Gly576Ser Single submitter ⚠
- p.Gly583Ser Single submitter ⚠
- p.Gly617Val Single submitter ⚠
- p.Gly672Arg Single submitter ⚠
- p.Gly838Asp Single submitter
- p.Gly932Ala Single submitter autosomal dominant nonsyndromic hearing loss 56
- p.Gly933Glu Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.His2079Asn Single submitter ⚠
- p.His537Arg Single submitter ⚠
- p.Ile1313Thr Single submitter ⚠
- p.Ile1747Phe Single submitter ⚠
- p.Ile1974Asn Single submitter ⚠
- p.Ile237Leu Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Ile757Leu Single submitter ⚠
- p.Ile781Thr Single submitter ⚠
- p.Leu1077Arg Single submitter ⚠
- p.Leu1350Val Single submitter ⚠
- p.Leu136= Single submitter
- p.Leu1478Ser Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Leu1508Phe Single submitter ⚠
- p.Leu1577Phe Single submitter ⚠
- p.Leu1626Pro Single submitter ⚠
- p.Leu1690Phe Single submitter ⚠
- p.Leu1769Arg Single submitter ⚠
- p.Leu1769Phe Single submitter
- p.Leu1905Phe Single submitter
- p.Leu2027Met Single submitter ⚠
- p.Leu283Pro Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Leu696Arg Single submitter ⚠
- p.Lys1437Arg Single submitter ⚠
- p.Lys1871Glu Single submitter hearing loss disorder ⚠
- p.Lys2096Thr Single submitter ⚠
- p.Lys281Arg Single submitter ⚠
- p.Lys375Met Single submitter ⚠
- p.Lys627Arg Single submitter ⚠
- p.Lys812Glu Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Lys969Arg Single submitter ⚠
- p.Lys989Asn Single submitter ⚠
- p.Met1710Leu Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Met1782Thr Single submitter ⚠
- p.Met1782Val Single submitter ⚠
- p.Met468Ile Single submitter ⚠
- p.Met468Lys Single submitter ⚠
- p.Phe1012Ser Single submitter ⚠
- p.Phe1556Cys Single submitter ⚠
- p.Phe1785Ile Single submitter ⚠
- p.Phe320Ser Single submitter ⚠
- p.Pro1008Leu Single submitter ⚠
- p.Pro1321Leu Single submitter ⚠
- p.Pro1412Ser Single submitter ⚠
- p.Pro1500Arg Single submitter ⚠
- p.Pro1500Ser Single submitter ⚠
- p.Pro1610Ser Single submitter ⚠
- p.Pro1621Ser Single submitter
- p.Pro1909His Single submitter ⚠
- p.Pro316Ser Single submitter
- p.Pro42Thr Single submitter ⚠
- p.Pro595Leu Single submitter ⚠
- p.Pro658His Single submitter autosomal dominant nonsyndromic hearing loss 56 ⚠
- p.Pro79Thr Single submitter ⚠
- p.Pro884Leu Single submitter ⚠
- p.Ser1161Pro Single submitter ⚠
- p.Ser1398Arg Single submitter ⚠
- p.Ser1694Arg Single submitter ⚠
- p.Ser1703Asn Single submitter ⚠
- p.Ser1719Leu Single submitter ⚠
- p.Ser2121Tyr Single submitter ⚠
- p.Ser2139Cys Single submitter ⚠
- p.Ser248Asn Single submitter ⚠
- p.Ser413Asn Single submitter ⚠
- p.Ser616Gly Single submitter ⚠
- p.Ser676Tyr Single submitter ⚠
- p.Ser760Gly Single submitter TNC-related disorder ⚠
- p.Ser908Asn Single submitter
- p.Ser908Thr Single submitter ⚠
- p.Thr1278Met Single submitter ⚠
- p.Thr1323Ala Single submitter ⚠
- p.Thr1368Ala Single submitter ⚠
- p.Thr1580Ala Single submitter ⚠
- p.Thr1591Ala Single submitter ⚠
- p.Thr1674Ser Single submitter ⚠
- p.Thr1734Ile Single submitter ⚠
- p.Thr1949Ala Single submitter ⚠
- p.Thr1949Ile Single submitter
- p.Thr1969Ile Single submitter ⚠
- p.Thr1972Ile Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Thr657Ser Single submitter ⚠
- p.Thr710Met Single submitter Meniere disease ⚠
- p.Thr822Ser Single submitter ⚠
- p.Thr848Ile Single submitter ⚠
- p.Thr867Ile Single submitter
- p.Thr891Ala Single submitter
- p.Thr959Ser Single submitter ⚠
- p.Thr996Ser Single submitter ⚠