WHRN — 956 ClinVar variants
All ClinVar germline WHRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 417 flagged for review →
34 Pathogenic · 8 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 71 Conflicting · 42 Benign · 19 Benign/Likely benign · 307 Likely benign · 454 Uncertain significance
Full WHRN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 417
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 28
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- WHRN p.Ala126Thr Conflicting Single submitter
- WHRN p.Ala376Ser Conflicting Single submitter
- WHRN p.Ala560Thr Conflicting Single submitter
-
WHRN p.Ala667Thr
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg223Cys
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg223His
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Arg332Gln Conflicting Single submitter
-
WHRN p.Arg450His
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Arg778Gln Conflicting Single submitter
-
WHRN p.Arg795Gln
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Gly701Arg Conflicting Single submitter
-
WHRN p.Gly7Arg
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Met461Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Pro485Leu
Conflicting
Single submitter
Usher syndrome type 2D
-
WHRN p.Pro676Arg
Conflicting
Single submitter
Usher syndrome type 2D
- WHRN p.Ser333Asn Conflicting Single submitter
-
WHRN p.Ser648Tyr
Conflicting
Single submitter
inherited retinal dystrophy
-
WHRN p.Thr383Asn
Conflicting
Single submitter
Usher syndrome type 2D
-
WHRN p.Thr47Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Thr77Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Thr785Ile
Conflicting
Single submitter
Usher syndrome type 2D
-
WHRN p.Thr813Met
Conflicting
Single submitter
Usher syndrome type 2D
-
WHRN p.Val359Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Val454Ile Conflicting Single submitter
- WHRN p.Val566Leu Conflicting Single submitter
- WHRN p.Val654Ile Conflicting Single submitter
- WHRN p.Val698Glu Conflicting Single submitter
- WHRN p.Val735Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 306
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 306
-
WHRN p.Ala207Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WHRN p.Ala315Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Ala376Thr Uncertain significance Multiple submitters
- WHRN p.Ala48Val Uncertain significance Multiple submitters
- WHRN p.Ala589Val Uncertain significance Multiple submitters
-
WHRN p.Ala631Val
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Ala64Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Ala740Val Uncertain significance Multiple submitters
- WHRN p.Ala747Asp Uncertain significance Multiple submitters
- WHRN p.Ala775Thr Uncertain significance Multiple submitters
- WHRN p.Arg198Trp Uncertain significance Multiple submitters
-
WHRN p.Arg242Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- WHRN p.Arg242His Uncertain significance Multiple submitters
- WHRN p.Arg265Trp Uncertain significance Multiple submitters
- WHRN p.Arg288Gln Uncertain significance Multiple submitters
- WHRN p.Arg295Cys Uncertain significance Multiple submitters
- WHRN p.Arg350Gln Uncertain significance Multiple submitters
- WHRN p.Arg366Cys Uncertain significance Multiple submitters
-
WHRN p.Arg366His
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Arg379Gln Uncertain significance Multiple submitters
- WHRN p.Arg431Gln Uncertain significance Multiple submitters
-
WHRN p.Arg490His
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Arg498His Uncertain significance Multiple submitters
- WHRN p.Arg506Gln Uncertain significance Multiple submitters
- WHRN p.Arg506Trp Uncertain significance Multiple submitters
- WHRN p.Arg542Lys Uncertain significance Multiple submitters
- WHRN p.Arg604Gly Uncertain significance Multiple submitters
- WHRN p.Arg627Cys Uncertain significance Multiple submitters
- WHRN p.Arg663Lys Uncertain significance Multiple submitters
- WHRN p.Arg682Leu Uncertain significance Multiple submitters
- WHRN p.Arg682Trp Uncertain significance Multiple submitters
- WHRN p.Arg728Cys Uncertain significance Multiple submitters
- WHRN p.Arg728His Uncertain significance Multiple submitters
- WHRN p.Arg745Cys Uncertain significance Multiple submitters
-
WHRN p.Arg795Trp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg873Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg878Gln
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Arg878Trp Uncertain significance Multiple submitters
- WHRN p.Arg882His Uncertain significance Multiple submitters
-
WHRN p.Asn559Ser
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- WHRN p.Asn736Ser Uncertain significance Multiple submitters
- WHRN p.Asp324Val Uncertain significance Multiple submitters
-
WHRN p.Asp358Asn
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Asp644His Uncertain significance Multiple submitters
- WHRN p.Asp730Gly Uncertain significance Multiple submitters
-
WHRN p.Asp897Ala
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Gln857His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Glu436Lys Uncertain significance Multiple submitters
- WHRN p.Glu732Lys Uncertain significance Multiple submitters
- WHRN p.Glu770Lys Uncertain significance Multiple submitters
- WHRN p.Glu770Val Uncertain significance Multiple submitters
- WHRN p.Glu797Gly Uncertain significance Multiple submitters
- WHRN p.Glu831Gly Uncertain significance Multiple submitters
- WHRN p.Gly16Ser Uncertain significance Multiple submitters
-
WHRN p.Gly227Val
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Gly255Ser Uncertain significance Multiple submitters
- WHRN p.Gly287Ser Uncertain significance Multiple submitters
-
WHRN p.Gly319Trp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Gly389Glu
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Gly410Ser Uncertain significance Multiple submitters
- WHRN p.Gly512Arg Uncertain significance Multiple submitters
- WHRN p.Gly533Ser Uncertain significance Multiple submitters
-
WHRN p.Gly603Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- WHRN p.Gly618Asp Uncertain significance Multiple submitters
- WHRN p.Gly678Ser Uncertain significance Multiple submitters
-
WHRN p.His232Pro
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.His270Arg Uncertain significance Multiple submitters
- WHRN p.Ile233Met Uncertain significance Multiple submitters
- WHRN p.Ile896Val Uncertain significance Multiple submitters
- WHRN p.Leu105Pro Uncertain significance Multiple submitters
-
WHRN p.Leu170Val
Uncertain significance
Multiple submitters
hearing loss disorder
-
WHRN p.Leu320Phe
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Leu561Phe Uncertain significance Multiple submitters
-
WHRN p.Leu8Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Lys821Gln Uncertain significance Multiple submitters
-
WHRN p.Lys889Glu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Met503Leu Uncertain significance Multiple submitters
-
WHRN p.Met519Val
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Pro239Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WHRN p.Pro408Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Pro586Leu Uncertain significance Multiple submitters
- WHRN p.Pro595Gln Uncertain significance Multiple submitters
- WHRN p.Pro599Ser Uncertain significance Multiple submitters
-
WHRN p.Pro637Thr
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Pro664Leu Uncertain significance Multiple submitters
-
WHRN p.Pro686Thr
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Pro687Leu Uncertain significance Multiple submitters
-
WHRN p.Pro794Leu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Pro806Leu Uncertain significance Multiple submitters
-
WHRN p.Pro807Ala
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Ser12Leu
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Ser387Leu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Ser523Asn Uncertain significance Multiple submitters
- WHRN p.Ser540Leu Uncertain significance Multiple submitters
-
WHRN p.Ser617Leu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- WHRN p.Ser782Leu Uncertain significance Multiple submitters
- WHRN p.Thr15Ile Uncertain significance Multiple submitters
- WHRN p.Thr200Ile Uncertain significance Multiple submitters
- WHRN p.Thr516Ile Uncertain significance Multiple submitters
-
WHRN p.Thr744Met
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Thr749Met Uncertain significance Multiple submitters
-
WHRN p.Thr825Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WHRN p.Thr871Ala
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Val460Ile
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Val538Ile Uncertain significance Multiple submitters
- WHRN p.Val566Met Uncertain significance Multiple submitters
- WHRN p.Ala118Val Uncertain significance Single submitter
- WHRN p.Ala146Val Uncertain significance Single submitter
- WHRN p.Ala148Val Uncertain significance Single submitter
- WHRN p.Ala177Thr Uncertain significance Single submitter
- WHRN p.Ala24Thr Uncertain significance Single submitter
- WHRN p.Ala342Val Uncertain significance Single submitter
- WHRN p.Ala385Val Uncertain significance Single submitter
- WHRN p.Ala388Thr Uncertain significance Single submitter
- WHRN p.Ala3Thr Uncertain significance Single submitter
- WHRN p.Ala458Thr Uncertain significance Single submitter
- WHRN p.Ala471Thr Uncertain significance Single submitter
- WHRN p.Ala505Val Uncertain significance Single submitter
- WHRN p.Ala513Pro Uncertain significance Single submitter
- WHRN p.Ala513Ser Uncertain significance Single submitter
- WHRN p.Ala623Asp Uncertain significance Single submitter
- WHRN p.Ala652Thr Uncertain significance Single submitter
- WHRN p.Ala657Pro Uncertain significance Single submitter
- WHRN p.Ala667Val Uncertain significance Single submitter
- WHRN p.Ala670Val Uncertain significance Single submitter
-
WHRN p.Ala694Val
Uncertain significance
Single submitter
Inborn genetic diseases
- WHRN p.Ala852Thr Uncertain significance Single submitter
- WHRN p.Ala885Pro Uncertain significance Single submitter
- WHRN p.Arg123Lys Uncertain significance Single submitter
- WHRN p.Arg265Gln Uncertain significance Single submitter
- WHRN p.Arg295His Uncertain significance Single submitter
- WHRN p.Arg295Pro Uncertain significance Single submitter
- WHRN p.Arg381Ser Uncertain significance Single submitter
- WHRN p.Arg423Gln Uncertain significance Single submitter
- WHRN p.Arg450Ser Uncertain significance Single submitter
- WHRN p.Arg490Cys Uncertain significance Single submitter
- WHRN p.Arg497Ser Uncertain significance Single submitter
-
WHRN p.Arg55Pro
Uncertain significance
Single submitter
Usher syndrome type 2D
- WHRN p.Arg584Cys Uncertain significance Single submitter
- WHRN p.Arg584His Uncertain significance Single submitter
- WHRN p.Arg627His Uncertain significance Single submitter
- WHRN p.Arg627Leu Uncertain significance Single submitter
- WHRN p.Arg682Gln Uncertain significance Single submitter
- WHRN p.Arg682Pro Uncertain significance Single submitter
- WHRN p.Arg780Ser Uncertain significance Single submitter
- WHRN p.Arg788Ser Uncertain significance Single submitter
- WHRN p.Arg893Ser Uncertain significance Single submitter
- WHRN p.Arg95Pro Uncertain significance Single submitter
- WHRN p.Asn336Asp Uncertain significance Single submitter
- WHRN p.Asn38Ser Uncertain significance Single submitter
Predictors split 83
The independent predictors disagree with each other — read with care.
- WHRN p.Ala829Thr Uncertain significance Multiple submitters
-
WHRN p.Ala885Thr
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Arg366Gly Uncertain significance Multiple submitters
- WHRN p.Arg450Cys Uncertain significance Multiple submitters
-
WHRN p.Arg745His
Uncertain significance
Multiple submitters
Usher syndrome type 2D
-
WHRN p.Arg818His
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg837Cys
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Arg873Trp Uncertain significance Multiple submitters
- WHRN p.Arg893His Uncertain significance Multiple submitters
- WHRN p.Asn854Lys Uncertain significance Multiple submitters
-
WHRN p.Asp107Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WHRN p.Asp73Glu Uncertain significance Multiple submitters
- WHRN p.Gln752His Benign Multiple submitters
- WHRN p.Gln847Arg Uncertain significance Multiple submitters
-
WHRN p.Glu725Lys
Uncertain significance
Multiple submitters
Usher syndrome type 2D
- WHRN p.Glu762Lys Uncertain significance Multiple submitters
- WHRN p.Gly25Cys Uncertain significance Multiple submitters
- WHRN p.Gly757Arg Uncertain significance Multiple submitters
- WHRN p.Phe106Leu Uncertain significance Multiple submitters
- WHRN p.Ser531Arg Uncertain significance Multiple submitters
- WHRN p.Val413Glu Uncertain significance Multiple submitters
-
WHRN p.Ala64Asp
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Ala67Glu Uncertain significance Single submitter
- WHRN p.Ala881Thr Uncertain significance Single submitter
- WHRN p.Ala887Gly Uncertain significance Single submitter
- WHRN p.Arg288Trp Uncertain significance Single submitter
- WHRN p.Arg350Trp Conflicting Single submitter
- WHRN p.Arg361Gly Uncertain significance Single submitter
-
WHRN p.Arg379Trp
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Arg431Trp Uncertain significance Single submitter
- WHRN p.Arg542Thr Uncertain significance Single submitter
-
WHRN p.Arg837His
Conflicting
Single submitter
Usher syndrome type 2D
-
WHRN p.Arg882Cys
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 31
-
WHRN p.Arg882Ser
Conflicting
Single submitter
inherited retinal dystrophy
- WHRN p.Arg88Trp Uncertain significance Single submitter
- WHRN p.Arg893Cys Uncertain significance Single submitter
- WHRN p.Arg893Gly Uncertain significance Single submitter
- WHRN p.Asn38Asp Uncertain significance Single submitter
- WHRN p.Gln758His Uncertain significance Single submitter
- WHRN p.Glu112Lys Uncertain significance Single submitter
- WHRN p.Glu341Lys Uncertain significance Single submitter
- WHRN p.Glu371Lys Uncertain significance Single submitter
- WHRN p.Glu478Lys Uncertain significance Single submitter
- WHRN p.Gly226Arg Uncertain significance Single submitter
- WHRN p.Gly241Arg Uncertain significance Single submitter
- WHRN p.Gly241Asp Uncertain significance Single submitter
- WHRN p.Gly765Arg Uncertain significance Single submitter
- WHRN p.Gly850Ser Uncertain significance Single submitter
- WHRN p.Gly874Ser Uncertain significance Single submitter
- WHRN p.His66Asp Uncertain significance Single submitter
- WHRN p.Leu104Val Uncertain significance Single submitter
- WHRN p.Leu196Val Uncertain significance Single submitter
- WHRN p.Leu214Val Uncertain significance Single submitter
- WHRN p.Leu352Val Uncertain significance Single submitter
- WHRN p.Leu475Phe Uncertain significance Single submitter
-
WHRN p.Leu809Pro
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 31
- WHRN p.Leu96Pro Uncertain significance Single submitter
- WHRN p.Lys206Glu Uncertain significance Single submitter
- WHRN p.Lys212Glu Uncertain significance Single submitter
- WHRN p.Lys891Asn Uncertain significance Single submitter
- WHRN p.Met442Thr Uncertain significance Single submitter
- WHRN p.Phe58Leu Uncertain significance Single submitter
- WHRN p.Pro247Arg Uncertain significance Single submitter
- WHRN p.Ser101Phe Uncertain significance Single submitter
-
WHRN p.Ser11Arg
Conflicting
Single submitter
retinitis pigmentosa-deafness syndrome
- WHRN p.Ser12Trp Uncertain significance Single submitter
- WHRN p.Ser155Thr Uncertain significance Single submitter
- WHRN p.Ser195Phe Uncertain significance Single submitter
- WHRN p.Ser411Ala Uncertain significance Single submitter
- WHRN p.Ser51Arg Uncertain significance Single submitter
- WHRN p.Ser761Gly Uncertain significance Single submitter
- WHRN p.Ser764Asn Uncertain significance Single submitter
- WHRN p.Ser84Arg Uncertain significance Single submitter
-
WHRN p.Thr110Ala
Conflicting
Single submitter
Usher syndrome type 2D
- WHRN p.Thr307Ala Uncertain significance Single submitter
- WHRN p.Thr47Ile Uncertain significance Single submitter
- WHRN p.Thr901Pro Uncertain significance Single submitter
-
WHRN p.Tyr109Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- WHRN p.Tyr115Cys Uncertain significance Single submitter
- WHRN p.Tyr115His Uncertain significance Single submitter
- WHRN p.Tyr444His Uncertain significance Single submitter
- WHRN p.Val479Met Uncertain significance Single submitter
- WHRN p.Val819Met Likely benign Single submitter
All WHRN variants
Pathogenic 34
- p.Arg778Ter Multiple submitters Usher syndrome
- p.Asn70fs Multiple submitters
- p.Pro246fs Multiple submitters DFNB31-related disorder
- p.Ala53fs Single submitter
- p.Arg423fs Single submitter
- p.Arg423Ter Single submitter Rare genetic deafness
- p.Asp606fs Single submitter Usher syndrome
- p.Asp730fs Single submitter
- p.Gln429Ter Single submitter
- p.Gln507Ter Single submitter
- p.Gln608Ter Single submitter
- p.Glu112fs Single submitter
- p.Glu438fs Single submitter
- p.Glu52Ter Single submitter
- p.Glu811fs Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Gly185fs Single submitter
- p.Gly25fs Single submitter
- p.Gly317fs Single submitter
- p.Ile166_Tyr167insTer Single submitter
- p.Ser12Ter Single submitter Usher syndrome type 2D
- p.Ser707fs Single submitter
- p.Ser9Ter Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Thr525fs Single submitter
- p.Thr529fs Single submitter Usher syndrome
- p.Tyr109Ter Single submitter
- p.Tyr122Ter Single submitter
- p.Tyr305Ter Single submitter
- p.Tyr522fs Single submitter
- p.Tyr65Ter Single submitter WHRN-related disorder
- p.Val215fs Single submitter Rare genetic deafness
- p.Val654fs Single submitter
- c.837+1G>A No assertion criteria Usher syndrome type 2D
- p.Gln103Ter No assertion criteria Usher syndrome type 2D
- p.Gly808fs No assertion criteria autosomal recessive nonsyndromic hearing loss 31
Pathogenic/Likely pathogenic 8
- c.1417-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Asp286fs Multiple submitters Usher syndrome type 2D
- p.Gln187Ter Multiple submitters
- p.Gly26fs Multiple submitters
- p.Ser11fs Multiple submitters WHRN-related disorder
- p.Trp374Ter Multiple submitters
- p.Tyr228fs Multiple submitters WHRN-related disorder
- p.Asn796fs No assertion criteria hearing loss, autosomal recessive
Likely pathogenic 21
- c.1203+2T>C Multiple submitters
- c.1167-1G>A Single submitter WHRN-related disorder
- c.1626+1G>A Single submitter
- c.1627-1G>A Single submitter DFNB31-related disorder
- c.1627-868_2312del Single submitter
- c.2236+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.2236+2T>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.2418+1G>A Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.618+2del Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.837+1del Single submitter
- c.838-1_843dup Single submitter WHRN-related disorder
- c.838-1G>A Single submitter
- p.Ala126fs Single submitter Usher syndrome
- p.Ala747fs Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Gln124Ter Single submitter WHRN-related disorder
- p.Gln273Ter Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Gln714Ter Single submitter Usher syndrome type 2D
- p.Glu501Ter Single submitter WHRN-related disorder
- p.Leu809Pro Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Ser660fs Single submitter DFNB31 & WHRN-related disorders
- p.Ser782Ter Single submitter autosomal recessive nonsyndromic hearing loss 31
Conflicting classifications of pathogenicity 71
- c.1417-8G>A Single submitter
- c.1626+8T>G Single submitter Usher syndrome type 2D
- c.1627-5T>A Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.2237-10C>G Single submitter Usher syndrome type 2D
- c.2419-5C>T Single submitter Usher syndrome type 2D
- c.837+13G>A Single submitter
- c.-204C>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*37C>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*51C>T Single submitter Usher syndrome type 2D
- p.Ala126Thr Single submitter ⚠
- p.Ala376Ser Single submitter ⚠
- p.Ala409= Single submitter Usher syndrome type 2D
- p.Ala560Thr Single submitter ⚠
- p.Ala64Asp Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Ala667Thr Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Ala885= Single submitter
- p.Arg183= Single submitter Usher syndrome type 2D
- p.Arg223Cys Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg223His Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg379Trp Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg450His Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg682= Single submitter Usher syndrome type 2D
- p.Arg778Gln Single submitter ⚠
- p.Arg795Gln Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg837His Single submitter Usher syndrome type 2D ⚠
- p.Arg882Cys Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg882Ser Single submitter inherited retinal dystrophy ⚠
- p.Asn435= Single submitter Usher syndrome type 2D
- p.Asn804= Single submitter
- p.Gln108= Single submitter Usher syndrome type 2D
- p.Gly701Arg Single submitter ⚠
- p.Gly710= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Gly769= Single submitter hearing loss disorder
- p.Gly7Arg Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.His254= Single submitter Usher syndrome type 2D
- p.Leu704= Single submitter
- p.Met461Leu Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Phe491= Single submitter
- p.Pro311= Single submitter Usher syndrome type 2D
- p.Pro485= Single submitter Usher syndrome type 2D
- p.Pro485Leu Single submitter Usher syndrome type 2D ⚠
- p.Pro629= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Pro664= Single submitter Usher syndrome type 2D
- p.Pro676Arg Single submitter Usher syndrome type 2D ⚠
- p.Ser11Arg Single submitter retinitis pigmentosa-deafness syndrome ⚠
- p.Ser333Asn Single submitter ⚠
- p.Ser387= Single submitter Usher syndrome type 2D
- p.Ser648Tyr Single submitter inherited retinal dystrophy ⚠
- p.Ser774= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Thr110Ala Single submitter Usher syndrome type 2D ⚠
- p.Thr120= Single submitter
- p.Thr230= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Thr383= Single submitter Usher syndrome type 2D
- p.Thr383Asn Single submitter Usher syndrome type 2D ⚠
- p.Thr47Ala Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Thr536= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Thr544= Single submitter
- p.Thr572= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Thr77Ser Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Thr785Ile Single submitter Usher syndrome type 2D ⚠
- p.Thr813= Single submitter Usher syndrome type 2D
- p.Thr813Met Single submitter Usher syndrome type 2D ⚠
- p.Tyr228= Single submitter Usher syndrome type 2D
- p.Val359Ile Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Val454Ile Single submitter ⚠
- p.Val566Leu Single submitter ⚠
- p.Val654Ile Single submitter ⚠
- p.Val698Glu Single submitter ⚠
- p.Val735Ile Single submitter ⚠
Benign 42
- c.1166+43A>T Multiple submitters
- c.1167-264G>A Multiple submitters
- c.1167-265C>A Multiple submitters
- c.1167-90G>A Multiple submitters
- c.1416+22A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- c.1417-224A>G Multiple submitters
- c.1627-12G>A Multiple submitters Usher syndrome type 2D
- c.2236+84G>T Multiple submitters
- c.2237-190T>C Multiple submitters
- c.618+1058G>A Multiple submitters
- c.618+125T>A Multiple submitters
- c.619-66G>T Multiple submitters
- c.964-21A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- c.-391C>A Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- c.-510G>A Multiple submitters Usher syndrome type 2D
- c.-91C>T Multiple submitters Usher syndrome type 2D
- c.*438T>G Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Asn796Lys Multiple submitters retinitis pigmentosa-deafness syndrome
- p.Gln752His Multiple submitters ⚠
- p.Gly451= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.His364= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.His364Arg Multiple submitters
- p.Met613Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Pro562Ala Multiple submitters retinitis pigmentosa-deafness syndrome
- p.Ser761= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Val39= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- c.1203+20del Single submitter
- c.1416+151A>G Single submitter
- c.1626+199T>C Single submitter
- c.1626+287del Single submitter
- c.1698+253_1698+254insTGACTT Single submitter
- c.1698+292G>T Single submitter
- c.1699-128T>C Single submitter
- c.2418+142A>G Single submitter
- c.2419-118G>A Single submitter
- c.618+126del Single submitter
- c.963+206G>A Single submitter
- c.963+314T>A Single submitter
- c.963+315G>C Single submitter
- c.-608_-601del Single submitter
- p.Gly451Asp Single submitter
- p.His470= Single submitter
Benign/Likely benign 19
- c.1166+18G>A Multiple submitters Usher syndrome type 2D
- c.-257C>G Multiple submitters Usher syndrome type 2D
- c.-295C>G Multiple submitters Usher syndrome type 2D
- p.Ala505= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Asn559= Multiple submitters
- p.Gln752= Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Glu137Gln Multiple submitters
- p.Glu52= Multiple submitters
- p.Gly25= Multiple submitters
- p.Gly255Asp Multiple submitters
- p.His862Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Leu426= Multiple submitters
- p.Leu78= Multiple submitters
- p.Pro509Ala Multiple submitters
- p.Pro624Ser Multiple submitters
- p.Pro687= Multiple submitters
- p.Ser571= Multiple submitters
- p.Thr749= Multiple submitters
- c.-314C>T Single submitter autosomal recessive nonsyndromic hearing loss 31
Likely benign 307
Showing the top 300 by review status; the full set is in the sitemap.
- c.1166+17C>T Multiple submitters
- c.1166+191A>G Multiple submitters
- c.1166+23A>G Multiple submitters
- c.1204-17A>G Multiple submitters
- c.1204-33G>A Multiple submitters
- c.1417-19C>G Multiple submitters
- c.1626+9C>A Multiple submitters
- c.1699-10C>T Multiple submitters
- c.2237-16del Multiple submitters
- c.2541+134C>T Multiple submitters
- c.2541+15G>T Multiple submitters
- c.2541+16C>T Multiple submitters
- c.618+6G>C Multiple submitters
- c.838-48A>C Multiple submitters
- c.-695A>T Multiple submitters
- p.Ala202= Multiple submitters
- p.Ala376= Multiple submitters
- p.Ala631= Multiple submitters
- p.Ala64= Multiple submitters
- p.Ala823= Multiple submitters
- p.Arg145= Multiple submitters
- p.Asn592= Multiple submitters
- p.Asp264= Multiple submitters
- p.Asp286= Multiple submitters
- p.Asp340= Multiple submitters
- p.Asp73= Multiple submitters
- p.Asp734= Multiple submitters
- p.Gln57= Multiple submitters
- p.Glu436= Multiple submitters
- p.Glu695= Multiple submitters
- p.Gly392= Multiple submitters
- p.Gly514= Multiple submitters
- p.Gly526= Multiple submitters
- p.Gly849= Multiple submitters
- p.His232= Multiple submitters
- p.His532= Multiple submitters
- p.Ile375= Multiple submitters
- p.Ile828= Multiple submitters
- p.Ile884= Multiple submitters
- p.Leu475= Multiple submitters
- p.Leu750= Multiple submitters
- p.Leu753= Multiple submitters
- p.Leu793= Multiple submitters
- p.Pro251= Multiple submitters
- p.Ser518= Multiple submitters
- p.Ser611= Multiple submitters
- p.Ser653= Multiple submitters
- p.Ser691= Multiple submitters
- p.Ser731= Multiple submitters
- p.Ser782= Multiple submitters
- p.Thr422= Multiple submitters
- p.Thr525= Multiple submitters
- p.Thr537= Multiple submitters
- p.Thr759= Multiple submitters
- p.Tyr300= Multiple submitters
- p.Val343= Multiple submitters
- c.1166+7C>T Single submitter
- c.1167-107G>A Single submitter
- c.1167-18G>A Single submitter
- c.1167-53G>A Single submitter
- c.1203+13C>G Single submitter
- c.1203+13C>T Single submitter
- c.1203+20_1203+21dup Single submitter
- c.1203+20G>A Single submitter
- c.1203+8A>C Single submitter
- c.1203+8A>G Single submitter
- c.1204-19C>G Single submitter
- c.1204-9G>C Single submitter
- c.1416+13C>G Single submitter
- c.1416+15G>T Single submitter
- c.1416+19C>T Single submitter
- c.1417-8G>C Single submitter
- c.1417-9C>T Single submitter
- c.1626+16C>A Single submitter
- c.1627-13C>T Single submitter
- c.1698+8C>T Single submitter
- c.1699-14G>C Single submitter
- c.1699-178G>A Single submitter
- c.1699-17G>C Single submitter
- c.2236+13A>C Single submitter
- c.2236+17C>T Single submitter
- c.2236+18A>T Single submitter
- c.2237-13T>C Single submitter
- c.2237-15T>C Single submitter
- c.2237-17C>G Single submitter
- c.2237-17C>T Single submitter
- c.2237-20C>T Single submitter
- c.2237-8C>T Single submitter
- c.2237-9C>A Single submitter
- c.2237-9C>T Single submitter
- c.2418+11_2418+12dup Single submitter
- c.2418+11A>G Single submitter
- c.2418+14A>G Single submitter
- c.2418+17A>C Single submitter
- c.2418+19G>T Single submitter
- c.2419-18C>T Single submitter
- c.2419-6C>T Single submitter
- c.2541+13G>A Single submitter
- c.2541+13G>C Single submitter
- c.2541+17C>T Single submitter
- c.2542-15G>T Single submitter
- c.2542-8C>G Single submitter
- c.618+125_618+126del Single submitter
- c.618+17G>A Single submitter
- c.618+18A>G Single submitter
- c.618+20A>C Single submitter
- c.618+7C>T Single submitter
- c.619-12C>G Single submitter
- c.619-18G>T Single submitter
- c.619-4C>G Single submitter
- c.619-54C>T Single submitter
- c.837+10G>A Single submitter
- c.837+190A>G Single submitter
- c.837+7G>A Single submitter
- c.837+9G>A Single submitter
- c.838-11C>T Single submitter
- c.838-13C>T Single submitter
- c.838-15C>G Single submitter
- c.838-15C>T Single submitter
- c.838-5G>T Single submitter
- c.838-9C>T Single submitter
- c.963+11G>C Single submitter
- c.963+180A>G Single submitter
- c.963+20A>C Single submitter
- c.963+280dup Single submitter
- c.963+6_963+7dup Single submitter
- c.963+9G>C Single submitter
- c.964-5G>T Single submitter
- c.-34C>T Single submitter
- p.Ala126= Single submitter
- p.Ala133= Single submitter
- p.Ala148= Single submitter
- p.Ala204= Single submitter
- p.Ala22= Single submitter
- p.Ala298= Single submitter
- p.Ala315= Single submitter
- p.Ala385= Single submitter
- p.Ala388= Single submitter
- p.Ala440= Single submitter
- p.Ala440Thr Single submitter
- p.Ala443= Single submitter
- p.Ala458= Single submitter
- p.Ala471= Single submitter
- p.Ala623= Single submitter
- p.Ala667= Single submitter
- p.Ala670= Single submitter
- p.Ala740= Single submitter
- p.Ala768= Single submitter
- p.Ala852= Single submitter
- p.Ala880= Single submitter
- p.Arg190= Single submitter
- p.Arg265= Single submitter
- p.Arg33= Single submitter
- p.Arg480= Single submitter
- p.Arg69= Single submitter
- p.Arg76= Single submitter
- p.Arg798= Single submitter
- p.Asn2= Single submitter
- p.Asn330= Single submitter
- p.Asn336= Single submitter
- p.Asn386Lys Single submitter
- p.Asn543= Single submitter
- p.Asn658= Single submitter
- p.Asn736= Single submitter
- p.Asn796= Single submitter
- p.Asp358= Single submitter
- p.Asp370= Single submitter
- p.Asp666= Single submitter
- p.Asp713= Single submitter
- p.Gln608= Single submitter
- p.Gln781= Single submitter
- p.Glu180= Single submitter
- p.Glu457= Single submitter
- p.Glu478= Single submitter
- p.Glu56= Single submitter
- p.Gly129= Single submitter
- p.Gly136= Single submitter
- p.Gly163= Single submitter
- p.Gly226= Single submitter
- p.Gly23= Single submitter
- p.Gly249= Single submitter
- p.Gly285= Single submitter
- p.Gly308= Single submitter
- p.Gly331= Single submitter
- p.Gly360= Single submitter
- p.Gly551= Single submitter
- p.Gly575= Single submitter
- p.Gly597= Single submitter
- p.Gly700= Single submitter
- p.Gly757= Single submitter
- p.Gly833= Single submitter
- p.His270= Single submitter
- p.His339= Single submitter
- p.His439= Single submitter
- p.His60= Single submitter
- p.His675= Single submitter
- p.His853= Single submitter
- p.His862= Single submitter
- p.His877= Single submitter
- p.Ile166= Single submitter
- p.Ile483= Single submitter
- p.Ile677= Single submitter
- p.Ile830= Single submitter
- p.Leu105= Single submitter
- p.Leu116= Single submitter
- p.Leu143= Single submitter
- p.Leu152= Single submitter
- p.Leu176= Single submitter
- p.Leu182= Single submitter
- p.Leu258= Single submitter
- p.Leu272= Single submitter
- p.Leu284= Single submitter
- p.Leu292= Single submitter
- p.Leu327= Single submitter
- p.Leu335= Single submitter
- p.Leu345= Single submitter
- p.Leu459= Single submitter
- p.Leu46= Single submitter
- p.Leu463= Single submitter
- p.Leu466= Single submitter
- p.Leu476= Single submitter
- p.Leu494= Single submitter
- p.Leu496= Single submitter
- p.Leu594= Single submitter
- p.Leu596= Single submitter
- p.Leu607= Single submitter
- p.Leu671= Single submitter
- p.Leu741= Single submitter
- p.Leu8= Single submitter
- p.Leu81= Single submitter
- p.Leu816= Single submitter
- p.Leu826= Single submitter
- p.Leu872= Single submitter
- p.Leu90= Single submitter
- p.Lys209= Single submitter
- p.Lys601= Single submitter
- p.Lys690= Single submitter
- p.Phe721= Single submitter
- p.Pro117= Single submitter
- p.Pro130= Single submitter
- p.Pro173= Single submitter
- p.Pro239= Single submitter
- p.Pro253= Single submitter
- p.Pro509= Single submitter
- p.Pro511= Single submitter
- p.Pro585= Single submitter
- p.Pro630= Single submitter
- p.Pro646= Single submitter
- p.Pro659= Single submitter
- p.Pro679= Single submitter
- p.Pro705= Single submitter
- p.Pro706= Single submitter
- p.Pro729= Single submitter
- p.Pro799= Single submitter
- p.Pro85= Single submitter
- p.Pro99= Single submitter
- p.Ser101= Single submitter
- p.Ser195= Single submitter
- p.Ser243= Single submitter
- p.Ser245= Single submitter
- p.Ser248= Single submitter
- p.Ser318= Single submitter
- p.Ser36= Single submitter
- p.Ser378= Single submitter
- p.Ser417= Single submitter
- p.Ser453= Single submitter
- p.Ser455= Single submitter
- p.Ser531= Single submitter
- p.Ser540= Single submitter
- p.Ser565= Single submitter
- p.Ser615= Single submitter
- p.Ser617= Single submitter
- p.Ser622= Single submitter
- p.Ser655= Single submitter
- p.Ser707= Single submitter
- p.Ser709= Single submitter
- p.Ser754= Single submitter
- p.Ser756= Single submitter
- p.Thr293= Single submitter
- p.Thr307= Single submitter
- p.Thr47= Single submitter
- p.Thr482= Single submitter
- p.Thr633= Single submitter
- p.Thr639= Single submitter
- p.Thr717= Single submitter
- p.Thr744= Single submitter
- p.Thr77= Single submitter
- p.Thr785= Single submitter
- p.Thr871= Single submitter
- p.Tyr522= Single submitter
- p.Val138= Single submitter
- p.Val184= Single submitter
- p.Val218= Single submitter
- p.Val413= Single submitter
- p.Val520= Single submitter
- p.Val554= Single submitter
- p.Val620= Single submitter
- p.Val783= Single submitter
- p.Val783Ala Single submitter
- p.Val817= Single submitter
Uncertain significance 454
Showing the top 300 by review status; the full set is in the sitemap.
- c.*156G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Ala207Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala315Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala342Ser Multiple submitters
- p.Ala376Thr Multiple submitters ⚠
- p.Ala48Val Multiple submitters ⚠
- p.Ala589Val Multiple submitters ⚠
- p.Ala631Val Multiple submitters Usher syndrome type 2D ⚠
- p.Ala64Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala740Val Multiple submitters ⚠
- p.Ala747Asp Multiple submitters ⚠
- p.Ala775Thr Multiple submitters ⚠
- p.Ala829Thr Multiple submitters ⚠
- p.Ala885Thr Multiple submitters Usher syndrome type 2D ⚠
- p.Arg198Trp Multiple submitters ⚠
- p.Arg242Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Arg242His Multiple submitters ⚠
- p.Arg265Trp Multiple submitters ⚠
- p.Arg288Gln Multiple submitters ⚠
- p.Arg295Cys Multiple submitters ⚠
- p.Arg350Gln Multiple submitters ⚠
- p.Arg366Cys Multiple submitters ⚠
- p.Arg366Gly Multiple submitters ⚠
- p.Arg366His Multiple submitters Usher syndrome type 2D ⚠
- p.Arg379Gln Multiple submitters ⚠
- p.Arg431Gln Multiple submitters ⚠
- p.Arg450Cys Multiple submitters ⚠
- p.Arg490His Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg498His Multiple submitters ⚠
- p.Arg506Gln Multiple submitters ⚠
- p.Arg506Trp Multiple submitters ⚠
- p.Arg542Lys Multiple submitters ⚠
- p.Arg604Gly Multiple submitters ⚠
- p.Arg627Cys Multiple submitters ⚠
- p.Arg663Lys Multiple submitters ⚠
- p.Arg682Leu Multiple submitters ⚠
- p.Arg682Trp Multiple submitters ⚠
- p.Arg728Cys Multiple submitters ⚠
- p.Arg728His Multiple submitters ⚠
- p.Arg745Cys Multiple submitters ⚠
- p.Arg745His Multiple submitters Usher syndrome type 2D ⚠
- p.Arg795Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg818His Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg837Cys Multiple submitters Usher syndrome type 2D ⚠
- p.Arg873Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Arg873Trp Multiple submitters ⚠
- p.Arg878Gln Multiple submitters Usher syndrome type 2D ⚠
- p.Arg878Trp Multiple submitters ⚠
- p.Arg882His Multiple submitters ⚠
- p.Arg893His Multiple submitters ⚠
- p.Asn559Ser Multiple submitters inherited retinal dystrophy ⚠
- p.Asn736Ser Multiple submitters ⚠
- p.Asn854Lys Multiple submitters ⚠
- p.Asp107Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp276Val Multiple submitters
- p.Asp324Val Multiple submitters ⚠
- p.Asp358Asn Multiple submitters Usher syndrome type 2D ⚠
- p.Asp492Asn Multiple submitters
- p.Asp644His Multiple submitters ⚠
- p.Asp730Gly Multiple submitters ⚠
- p.Asp73Glu Multiple submitters ⚠
- p.Asp767Tyr Multiple submitters
- p.Asp897Ala Multiple submitters Usher syndrome type 2D ⚠
- p.Gln847Arg Multiple submitters ⚠
- p.Gln857His Multiple submitters Inborn genetic diseases ⚠
- p.Glu436Lys Multiple submitters ⚠
- p.Glu725Lys Multiple submitters Usher syndrome type 2D ⚠
- p.Glu732Lys Multiple submitters ⚠
- p.Glu762Lys Multiple submitters ⚠
- p.Glu770Lys Multiple submitters ⚠
- p.Glu770Val Multiple submitters ⚠
- p.Glu797Gly Multiple submitters ⚠
- p.Glu831Gly Multiple submitters ⚠
- p.Gly16Ser Multiple submitters ⚠
- p.Gly227Val Multiple submitters Usher syndrome type 2D ⚠
- p.Gly255Ser Multiple submitters ⚠
- p.Gly25Cys Multiple submitters ⚠
- p.Gly287Ser Multiple submitters ⚠
- p.Gly29del Multiple submitters
- p.Gly319Trp Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Gly389Glu Multiple submitters Usher syndrome type 2D ⚠
- p.Gly410Ser Multiple submitters ⚠
- p.Gly512Arg Multiple submitters ⚠
- p.Gly533Ser Multiple submitters ⚠
- p.Gly603Val Multiple submitters inherited retinal dystrophy ⚠
- p.Gly618Asp Multiple submitters ⚠
- p.Gly678Ser Multiple submitters ⚠
- p.Gly757Arg Multiple submitters ⚠
- p.Gly874Ala Multiple submitters
- p.His232Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.His270Arg Multiple submitters ⚠
- p.Ile233Met Multiple submitters ⚠
- p.Ile896Val Multiple submitters ⚠
- p.Leu105Pro Multiple submitters ⚠
- p.Leu170Val Multiple submitters hearing loss disorder ⚠
- p.Leu271_Asp276delinsHis Multiple submitters
- p.Leu320Phe Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Leu561Phe Multiple submitters ⚠
- p.Leu8Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys821Gln Multiple submitters ⚠
- p.Lys889Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Met503Leu Multiple submitters ⚠
- p.Met519Val Multiple submitters Usher syndrome type 2D ⚠
- p.Phe106Leu Multiple submitters ⚠
- p.Phe621_Ser622delinsLeu Multiple submitters
- p.Pro239Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro408Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro586Leu Multiple submitters ⚠
- p.Pro595Gln Multiple submitters ⚠
- p.Pro599Ser Multiple submitters ⚠
- p.Pro637Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Pro664Leu Multiple submitters ⚠
- p.Pro686Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Pro687Leu Multiple submitters ⚠
- p.Pro794Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Pro806Leu Multiple submitters ⚠
- p.Pro807Ala Multiple submitters Usher syndrome type 2D ⚠
- p.Ser12Leu Multiple submitters Usher syndrome type 2D ⚠
- p.Ser387Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Ser523Asn Multiple submitters ⚠
- p.Ser531Arg Multiple submitters ⚠
- p.Ser540Leu Multiple submitters ⚠
- p.Ser617Leu Multiple submitters inherited retinal dystrophy ⚠
- p.Ser754Leu Multiple submitters Usher syndrome type 2D
- p.Ser782Leu Multiple submitters ⚠
- p.Ter908Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 31
- p.Thr15Ile Multiple submitters ⚠
- p.Thr200Ile Multiple submitters ⚠
- p.Thr516Ile Multiple submitters ⚠
- p.Thr744Met Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Thr749Met Multiple submitters ⚠
- p.Thr825Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr871Ala Multiple submitters Usher syndrome type 2D ⚠
- p.Tyr444Cys Multiple submitters Usher syndrome type 2D
- p.Val309Met Multiple submitters
- p.Val413Glu Multiple submitters ⚠
- p.Val460Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Val538Ile Multiple submitters ⚠
- p.Val566= Multiple submitters
- p.Val566Met Multiple submitters ⚠
- c.1417-3C>T Single submitter
- c.1627-10C>A Single submitter
- c.1627-7T>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.2236+6T>A Single submitter
- c.2418+3G>A Single submitter
- c.2541+3A>G Single submitter
- c.2541+5G>T Single submitter
- c.2542-1G>A Single submitter
- c.837+5G>C Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.964-4_964-3delinsTT Single submitter
- c.-23C>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.-269C>A Single submitter Usher syndrome type 2D
- c.-305C>T Single submitter Usher syndrome type 2D
- c.-310G>T Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.-483G>A Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.-499G>A Single submitter Usher syndrome type 2D
- c.-505C>T Single submitter Usher syndrome type 2D
- c.-517C>T Single submitter Usher syndrome type 2D
- c.-570C>G Single submitter Usher syndrome type 2D
- c.-581C>T Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.-583C>T Single submitter Usher syndrome type 2D
- c.-595G>A Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.-92C>T Single submitter Usher syndrome type 2D
- c.*126C>A Single submitter Usher syndrome type 2D
- c.*149A>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*175C>T Single submitter Usher syndrome type 2D
- c.*187A>G Single submitter Usher syndrome type 2D
- c.*188A>T Single submitter Usher syndrome type 2D
- c.*29T>G Single submitter Usher syndrome type 2D
- c.*339C>A Single submitter Usher syndrome type 2D
- c.*357C>G Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*495T>C Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*554C>T Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*583C>T Single submitter autosomal recessive nonsyndromic hearing loss 31
- c.*613A>G Single submitter Usher syndrome type 2D
- c.*633T>C Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Ala118Val Single submitter ⚠
- p.Ala146Val Single submitter ⚠
- p.Ala148Val Single submitter ⚠
- p.Ala177Thr Single submitter ⚠
- p.Ala21= Single submitter
- p.Ala24Thr Single submitter ⚠
- p.Ala342Val Single submitter ⚠
- p.Ala385Val Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala458Thr Single submitter ⚠
- p.Ala462Val Single submitter
- p.Ala471Thr Single submitter ⚠
- p.Ala505Val Single submitter ⚠
- p.Ala513Pro Single submitter ⚠
- p.Ala513Ser Single submitter ⚠
- p.Ala623Asp Single submitter ⚠
- p.Ala652Thr Single submitter ⚠
- p.Ala657Pro Single submitter ⚠
- p.Ala667Val Single submitter ⚠
- p.Ala670Val Single submitter ⚠
- p.Ala67Glu Single submitter ⚠
- p.Ala694Val Single submitter Inborn genetic diseases ⚠
- p.Ala829Ser Single submitter
- p.Ala852Thr Single submitter ⚠
- p.Ala881Thr Single submitter ⚠
- p.Ala885Pro Single submitter ⚠
- p.Ala887Gly Single submitter ⚠
- p.Arg123Lys Single submitter ⚠
- p.Arg223Gly Single submitter
- p.Arg265Gln Single submitter ⚠
- p.Arg288Trp Single submitter ⚠
- p.Arg295His Single submitter ⚠
- p.Arg295Pro Single submitter ⚠
- p.Arg361Gly Single submitter ⚠
- p.Arg381Ser Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg431Trp Single submitter ⚠
- p.Arg450Ser Single submitter ⚠
- p.Arg490Cys Single submitter ⚠
- p.Arg497Ser Single submitter ⚠
- p.Arg542Thr Single submitter ⚠
- p.Arg55Pro Single submitter Usher syndrome type 2D ⚠
- p.Arg584Cys Single submitter ⚠
- p.Arg584His Single submitter ⚠
- p.Arg627His Single submitter ⚠
- p.Arg627Leu Single submitter ⚠
- p.Arg682Gln Single submitter ⚠
- p.Arg682Pro Single submitter ⚠
- p.Arg745Pro Single submitter
- p.Arg780Ser Single submitter ⚠
- p.Arg788Ser Single submitter ⚠
- p.Arg88Trp Single submitter ⚠
- p.Arg893Cys Single submitter ⚠
- p.Arg893Gly Single submitter ⚠
- p.Arg893Ser Single submitter ⚠
- p.Arg95Pro Single submitter ⚠
- p.Asn336Asp Single submitter ⚠
- p.Asn38Asp Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Asn400Ser Single submitter ⚠
- p.Asn420Ser Single submitter ⚠
- p.Asn543Asp Single submitter ⚠
- p.Asn557Ser Single submitter ⚠
- p.Asn559His Single submitter ⚠
- p.Asn673Ser Single submitter ⚠
- p.Asn804His Single submitter ⚠
- p.Asn854Ser Single submitter ⚠
- p.Asp286Asn Single submitter ⚠
- p.Asp340Asn Single submitter autosomal recessive nonsyndromic hearing loss 31 ⚠
- p.Asp393Asn Single submitter ⚠
- p.Asp393His Single submitter ⚠
- p.Asp393Tyr Single submitter ⚠
- p.Asp515Asn Single submitter ⚠
- p.Asp563del Single submitter
- p.Asp563His Single submitter ⚠
- p.Asp593Asn Single submitter Inborn genetic diseases ⚠
- p.Asp593Tyr Single submitter ⚠
- p.Asp644Asn Single submitter ⚠
- p.Asp713His Single submitter ⚠
- p.Asp730Asn Single submitter ⚠
- p.Gln240Glu Single submitter ⚠
- p.Gln44Arg Single submitter ⚠
- p.Gln507Leu Single submitter ⚠
- p.Gln598His Single submitter ⚠
- p.Gln643= Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Gln643Leu Single submitter ⚠
- p.Gln674Pro Single submitter ⚠
- p.Gln758His Single submitter ⚠
- p.Gln781Glu Single submitter ⚠
- p.Gln838_Pro839delinsHisSer Single submitter
- p.Gln857Ter Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Glu112Lys Single submitter ⚠
- p.Glu178Ala Single submitter
- p.Glu341Lys Single submitter ⚠
- p.Glu371Lys Single submitter ⚠
- p.Glu478Lys Single submitter ⚠
- p.Glu489Gly Single submitter ⚠
- p.Glu489Lys Single submitter ⚠
- p.Glu56Gly Single submitter
- p.Glu725Gln Single submitter autosomal recessive nonsyndromic hearing loss 31
- p.Glu772Lys Single submitter ⚠
- p.Glu797Lys Single submitter ⚠
- p.Glu831Lys Single submitter ⚠
- p.Glu886Lys Single submitter
- p.Gly129Ser Single submitter ⚠
- p.Gly134Arg Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly181Glu Single submitter ⚠
- p.Gly185Arg Single submitter ⚠
- p.Gly19Cys Single submitter ⚠
- p.Gly222Arg Single submitter ⚠
- p.Gly226Arg Single submitter ⚠
- p.Gly241Arg Single submitter ⚠
- p.Gly241Asp Single submitter ⚠
- p.Gly291Val Single submitter ⚠
- p.Gly296Arg Single submitter ⚠
- p.Gly296Trp Single submitter ⚠
- p.Gly301Ser Single submitter ⚠
- p.Gly319Arg Single submitter ⚠
- p.Gly360Ala Single submitter
- p.Gly398Arg Single submitter ⚠
- p.Gly398Glu Single submitter ⚠
- p.Gly419Ala Single submitter Inborn genetic diseases ⚠