SLC26A4 — 1655 ClinVar variants
All ClinVar germline SLC26A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 410 flagged for review →
201 Pathogenic · 136 Pathogenic/Likely pathogenic · 235 Likely pathogenic · 102 Conflicting · 48 Benign · 20 Benign/Likely benign · 531 Likely benign · 382 Uncertain significance
Full SLC26A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 410
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 27
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SLC26A4 p.Cys565Tyr
Likely pathogenic
Expert panel
Pendred syndrome
-
SLC26A4 p.Ile655Val
Likely pathogenic
Expert panel
Pendred syndrome
-
SLC26A4 p.Leu236Val
Pathogenic
Expert panel
Pendred syndrome
-
SLC26A4 p.Val570Ile
Likely pathogenic
Expert panel
Pendred syndrome
-
SLC26A4 p.Ala664Val
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asn558Ser
Pathogenic/Likely pathogenic
Multiple submitters
SLC26A4-related disorder
-
SLC26A4 p.Glu29Gln
Pathogenic/Likely pathogenic
Multiple submitters
Monogenic hearing loss
-
SLC26A4 p.Glu29Lys
Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile188Thr
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Pro76Leu
Pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Pro76Ser
Pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ser532Ile
Pathogenic/Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Thr508Ala
Pathogenic/Likely pathogenic
Multiple submitters
Rare genetic deafness
-
SLC26A4 p.Val422Ile
Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val659Leu
Pathogenic
Multiple submitters
SLC26A4-related disorder
- SLC26A4 p.Ala387Ser Likely pathogenic Single submitter
-
SLC26A4 p.Ala403Ser
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ala574Thr
Likely pathogenic
Single submitter
Pendred syndrome
- SLC26A4 p.Asn457Ser Likely pathogenic Single submitter
-
SLC26A4 p.Cys565Gly
Likely pathogenic
Single submitter
hearing loss disorder
-
SLC26A4 p.Glu29Asp
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile539Val
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Lys77Ile
Likely pathogenic
Single submitter
Pendred syndrome
-
SLC26A4 p.Pro516Ala
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ser28Gly
Pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile363Leu
Pathogenic
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Trp518Gly
Likely pathogenic
No assertion criteria
autosomal recessive nonsyndromic hearing loss 4
Predictors agree, ClinVar conflicts 39
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- SLC26A4 p.Ala120Pro Conflicting Single submitter
-
SLC26A4 p.Ala179Thr
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Ala191Val
Conflicting
Single submitter
Pendred syndrome
- SLC26A4 p.Ala387Asp Conflicting Single submitter
-
SLC26A4 p.Ala599Val
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Arg24Gly
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asn322Asp
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Asp266Asn
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asp87Gly
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Glu737Asp
Conflicting
Single submitter
hearing loss, autosomal recessive
-
SLC26A4 p.Gly102Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Gly557Asp Conflicting Single submitter
-
SLC26A4 p.Gly6Val
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gly740Val
Conflicting
Single submitter
Rare genetic deafness
-
SLC26A4 p.Ile136Val
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Ile539Thr
Conflicting
Single submitter
Inborn genetic diseases
- SLC26A4 p.Ile566Met Conflicting Single submitter
- SLC26A4 p.Leu624Pro Conflicting Single submitter
-
SLC26A4 p.Leu668Pro
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Met147Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Met21Val Conflicting Single submitter
-
SLC26A4 p.Phe504Ser
Conflicting
Single submitter
SLC26A4-related disorder
-
SLC26A4 p.Phe718Ser
Conflicting
Single submitter
SLC26A4-related disorder
-
SLC26A4 p.Pro10Thr
Conflicting
Single submitter
SLC26A4-related disorder
- SLC26A4 p.Ser252Phe Conflicting Single submitter
- SLC26A4 p.Thr410Ala Conflicting Single submitter
-
SLC26A4 p.Trp482Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Trp640Cys
Conflicting
Single submitter
SLC26A4-related disorder
-
SLC26A4 p.Tyr78His
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Val186Phe
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Val196Asp
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val231Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val233Leu
Conflicting
Single submitter
SLC26A4-related disorder
-
SLC26A4 p.Val281Ile
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val343Leu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val412Phe
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Val422Gly Conflicting Single submitter
-
SLC26A4 p.Val480Asp
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Val690Ala
Conflicting
Single submitter
Pendred syndrome
Predictors lean, ClinVar uncertain 206
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 206
-
SLC26A4 p.Gln421Arg
Uncertain significance
Expert panel
Pendred syndrome
-
SLC26A4 p.Ser642Pro
Uncertain significance
Expert panel
Pendred syndrome
-
SLC26A4 p.Thr485Met
Uncertain significance
Expert panel
Pendred syndrome
-
SLC26A4 p.Thr764Met
Uncertain significance
Expert panel
Pendred syndrome
-
SLC26A4 p.Ala226Thr
Uncertain significance
Multiple submitters
Pendred syndrome
- SLC26A4 p.Ala284Thr Uncertain significance Multiple submitters
-
SLC26A4 p.Ala429Glu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ala434Asp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ala434Thr
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Arg134Ile Uncertain significance Multiple submitters
-
SLC26A4 p.Arg43His
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Arg79Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asn382Lys
Uncertain significance
Multiple submitters
hearing loss disorder
-
SLC26A4 p.Asp182Val
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Asp697Asn Uncertain significance Multiple submitters
-
SLC26A4 p.Asp711Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gln589Pro
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Gln637Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Glu773Lys
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gly149Arg
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gly63Ala
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile124Asn
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Ile199Thr Uncertain significance Multiple submitters
- SLC26A4 p.Ile202Thr Uncertain significance Multiple submitters
-
SLC26A4 p.Ile296Val
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Ile539Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Ile621Val
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Leu743Ser
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Met155Val
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Pro542Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Ser165Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Thr745Met
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Thr99Met Uncertain significance Multiple submitters
- SLC26A4 p.Val163Ala Uncertain significance Multiple submitters
-
SLC26A4 p.Val412Ile
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Val670Ile
Uncertain significance
Multiple submitters
Pendred syndrome
- SLC26A4 p.Val688Ala Uncertain significance Multiple submitters
-
SLC26A4 p.Ala104Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ala110Thr
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Ala216Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Ala270Val Uncertain significance Single submitter
- SLC26A4 p.Ala351Gly Uncertain significance Single submitter
-
SLC26A4 p.Ala352Thr
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Ala61Ser Uncertain significance Single submitter
- SLC26A4 p.Ala779Pro Uncertain significance Single submitter
-
SLC26A4 p.Ala779Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Arg333Lys Uncertain significance Single submitter
-
SLC26A4 p.Arg38Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Arg43Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Arg470His
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Arg576Gly Uncertain significance Single submitter
- SLC26A4 p.Arg576Thr Uncertain significance Single submitter
-
SLC26A4 p.Arg677Pro
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Arg776Gly Uncertain significance Single submitter
- SLC26A4 p.Arg7Lys Uncertain significance Single submitter
-
SLC26A4 p.Asn172Ser
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Asn241Ile Uncertain significance Single submitter
-
SLC26A4 p.Asn246His
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Asn579Ser Uncertain significance Single submitter
- SLC26A4 p.Asn689Lys Uncertain significance Single submitter
- SLC26A4 p.Asn689Tyr Uncertain significance Single submitter
-
SLC26A4 p.Asp380Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Asp618Asn Uncertain significance Single submitter
-
SLC26A4 p.Asp639Tyr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Asp661Gly Uncertain significance Single submitter
-
SLC26A4 p.Asp772Tyr
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Asp87Glu Uncertain significance Single submitter
-
SLC26A4 p.Gln35Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Gln732Lys Uncertain significance Single submitter
-
SLC26A4 p.Glu159Lys
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Glu15Lys Uncertain significance Single submitter
- SLC26A4 p.Glu414Gly Uncertain significance Single submitter
-
SLC26A4 p.Glu42Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Glu443Gln
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Glu540Lys Uncertain significance Single submitter
- SLC26A4 p.Glu9Lys Uncertain significance Single submitter
-
SLC26A4 p.Gly197Glu
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Gly222Cys Uncertain significance Single submitter
-
SLC26A4 p.Gly265Ala
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Gly334Trp Uncertain significance Single submitter
-
SLC26A4 p.Gly418Arg
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Gly418Glu Uncertain significance Single submitter
-
SLC26A4 p.Gly561Cys
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Gly63Ser
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Gly738Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Gly91Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Gly95Arg Uncertain significance Single submitter
- SLC26A4 p.Ile176Thr Uncertain significance Single submitter
- SLC26A4 p.Ile254Val Uncertain significance Single submitter
-
SLC26A4 p.Ile296Asn
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Ile296Met Uncertain significance Single submitter
- SLC26A4 p.Ile308Thr Uncertain significance Single submitter
- SLC26A4 p.Ile363Val Uncertain significance Single submitter
-
SLC26A4 p.Ile379Val
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Ile393Val Uncertain significance Single submitter
-
SLC26A4 p.Ile426Asn
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile503Met
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Ile524Leu Uncertain significance Single submitter
-
SLC26A4 p.Ile547Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Ile634Thr Uncertain significance Single submitter
-
SLC26A4 p.Ile742Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Leu206Val Uncertain significance Single submitter
- SLC26A4 p.Leu257Pro Uncertain significance Single submitter
- SLC26A4 p.Leu471Pro Uncertain significance Single submitter
- SLC26A4 p.Leu496Phe Uncertain significance Single submitter
- SLC26A4 p.Leu499Arg Uncertain significance Single submitter
-
SLC26A4 p.Leu507Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Leu658Phe Uncertain significance Single submitter
- SLC26A4 p.Leu660Pro Uncertain significance Single submitter
-
SLC26A4 p.Leu695Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Leu743Val Uncertain significance Single submitter
-
SLC26A4 p.Leu748Val
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Leu778Arg Uncertain significance Single submitter
- SLC26A4 p.Leu778Phe Uncertain significance Single submitter
- SLC26A4 p.Lys374Arg Uncertain significance Single submitter
- SLC26A4 p.Lys440Asn Uncertain significance Single submitter
- SLC26A4 p.Lys52Glu Uncertain significance Single submitter
- SLC26A4 p.Lys531Arg Uncertain significance Single submitter
- SLC26A4 p.Lys546Glu Uncertain significance Single submitter
-
SLC26A4 p.Met103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Met155Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Met432Leu Uncertain significance Single submitter
- SLC26A4 p.Met461Ile Uncertain significance Single submitter
- SLC26A4 p.Met461Lys Uncertain significance Single submitter
-
SLC26A4 p.Met775Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Met775Thr Uncertain significance Single submitter
- SLC26A4 p.Met775Val Uncertain significance Single submitter
- SLC26A4 p.Phe550Leu Uncertain significance Single submitter
- SLC26A4 p.Phe550Ser Uncertain significance Single submitter
- SLC26A4 p.Pro112Ala Uncertain significance Single submitter
- SLC26A4 p.Pro299Ser Uncertain significance Single submitter
- SLC26A4 p.Pro70Leu Uncertain significance Single submitter
- SLC26A4 p.Ser165Thr Uncertain significance Single submitter
- SLC26A4 p.Ser166Asn Uncertain significance Single submitter
- SLC26A4 p.Ser17Gly Uncertain significance Single submitter
- SLC26A4 p.Ser415Ile Uncertain significance Single submitter
-
SLC26A4 p.Ser523Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Ser532Gly Uncertain significance Single submitter
- SLC26A4 p.Ser55Ile Uncertain significance Single submitter
-
SLC26A4 p.Ser55Thr
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ser606Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Ser666Thr
Uncertain significance
Single submitter
Pendred syndrome
- SLC26A4 p.Ser666Tyr Uncertain significance Single submitter
- SLC26A4 p.Ser735Cys Uncertain significance Single submitter
- SLC26A4 p.Thr174Ser Uncertain significance Single submitter
- SLC26A4 p.Thr256Lys Uncertain significance Single submitter
- SLC26A4 p.Thr99Lys Uncertain significance Single submitter
- SLC26A4 p.Trp472Arg Uncertain significance Single submitter
- SLC26A4 p.Trp83Gly Uncertain significance Single submitter
- SLC26A4 p.Tyr105Cys Uncertain significance Single submitter
Predictors split 138
The independent predictors disagree with each other — read with care.
-
SLC26A4 p.Ala357Thr
Likely benign
Expert panel
Pendred syndrome
-
SLC26A4 p.Ile455Phe
Benign
Expert panel
Pendred syndrome
-
SLC26A4 p.Phe335Leu
Likely pathogenic
Expert panel
Pendred syndrome
-
SLC26A4 p.Val138Phe
Pathogenic
Expert panel
Pendred syndrome
- SLC26A4 p.Ala584Val Uncertain significance Multiple submitters
-
SLC26A4 p.Arg213Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Arg291Gln
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Arg291Trp
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Arg470Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Asn268Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Asn324Tyr
Benign/Likely benign
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asp687Tyr
Uncertain significance
Multiple submitters
Pendred syndrome
- SLC26A4 p.Glu287Gln Uncertain significance Multiple submitters
-
SLC26A4 p.Gly139Ala
Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gly424Asp
Pathogenic/Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Ile300Leu
Benign/Likely benign
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile379Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Ile491Thr
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Phe122Leu
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Phe141Ser
Pathogenic/Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Phe32Leu
Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Phe335Val
Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Phe515Leu
Pathogenic/Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Phe572Leu
Likely pathogenic
Multiple submitters
Pendred syndrome
- SLC26A4 p.Pro25Arg Uncertain significance Multiple submitters
-
SLC26A4 p.Ser28Arg
Pathogenic/Likely pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Ser399Pro
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ser657Cys
Uncertain significance
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Ser666Pro
Uncertain significance
Multiple submitters
SLC26A4-related disorder
-
SLC26A4 p.Thr631Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC26A4 p.Thr94Ile
Pathogenic
Multiple submitters
Pendred syndrome
-
SLC26A4 p.Val138Leu
Pathogenic/Likely pathogenic
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Val143Leu Uncertain significance Multiple submitters
- SLC26A4 p.Val22Ala Uncertain significance Multiple submitters
- SLC26A4 p.Val570Ala Uncertain significance Multiple submitters
-
SLC26A4 p.Val577Ala
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Val97Ala Uncertain significance Multiple submitters
-
SLC26A4 p.Val97Glu
Likely pathogenic
Multiple submitters
SLC26A4-related disorder
-
SLC26A4 p.Ala180Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Ala310Val
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Ala403Val
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ala406Thr
Likely pathogenic
Single submitter
Pendred syndrome
- SLC26A4 p.Ala428Val Uncertain significance Single submitter
-
SLC26A4 p.Ala693Val
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Arg549Gly
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Arg677Trp
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Arg776Cys
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Asn167Lys Uncertain significance Single submitter
-
SLC26A4 p.Asp177Ala
Uncertain significance
Single submitter
hearing loss disorder
-
SLC26A4 p.Asp560Asn
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Asp661Glu
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Cys565Trp Uncertain significance Single submitter
- SLC26A4 p.Gln413Leu Likely pathogenic Single submitter
-
SLC26A4 p.Gln514His
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gln736Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Glu29Gly
Conflicting
Single submitter
SLC26A4-related disorder
- SLC26A4 p.Glu303Asp Uncertain significance Single submitter
- SLC26A4 p.Glu744Gly Uncertain significance Single submitter
-
SLC26A4 p.Gly114Arg
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Gly221Cys
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Gly418Ala Uncertain significance Single submitter
- SLC26A4 p.Gly424Val Likely pathogenic Single submitter
- SLC26A4 p.Gly493Arg Uncertain significance Single submitter
-
SLC26A4 p.Gly557Val
Likely pathogenic
Single submitter
Pendred syndrome
- SLC26A4 p.Ile136Asn Likely pathogenic Single submitter
- SLC26A4 p.Ile136Thr Uncertain significance Single submitter
-
SLC26A4 p.Ile211Met
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Ile305Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Ile490Leu
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Ile554Met
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Ile679Thr
Uncertain significance
Single submitter
congenital hypothyroidism
-
SLC26A4 p.Leu100Pro
Conflicting
Single submitter
hearing loss disorder
- SLC26A4 p.Leu441Phe Uncertain significance Single submitter
-
SLC26A4 p.Leu445Phe
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Leu458Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Leu597Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Leu72Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC26A4 p.Lys531Gln
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Lys531Thr Uncertain significance Single submitter
- SLC26A4 p.Lys81Glu Uncertain significance Single submitter
- SLC26A4 p.Met147Leu Likely pathogenic Single submitter
- SLC26A4 p.Phe335Ile Uncertain significance Single submitter
- SLC26A4 p.Phe346Ile Uncertain significance Single submitter
- SLC26A4 p.Phe346Leu Uncertain significance Single submitter
-
SLC26A4 p.Phe562Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Phe667Leu Likely pathogenic Single submitter
-
SLC26A4 p.Phe667Ser
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Phe692Leu
Pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Pro140His
Likely pathogenic
Single submitter
Pendred syndrome
-
SLC26A4 p.Pro140Leu
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Pro142Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Pro516Ser
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Pro525Leu
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Pro553Ser
Uncertain significance
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Pro76Arg
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Ser252Thr Uncertain significance Single submitter
-
SLC26A4 p.Ser347Leu
Conflicting
Single submitter
Inborn genetic diseases
- SLC26A4 p.Ser415Asn Uncertain significance Single submitter
-
SLC26A4 p.Ser415Gly
Conflicting
Single submitter
Monogenic hearing loss
- SLC26A4 p.Ser415Thr Uncertain significance Single submitter
- SLC26A4 p.Ser568Tyr Uncertain significance Single submitter
-
SLC26A4 p.Ser93Asn
Conflicting
Single submitter
Pendred syndrome
- SLC26A4 p.Thr178Pro Uncertain significance Single submitter
- SLC26A4 p.Thr256Met Uncertain significance Single submitter
- SLC26A4 p.Thr307Met Conflicting Single submitter
-
SLC26A4 p.Thr405Ile
Conflicting
Single submitter
SLC26A4-related disorder
-
SLC26A4 p.Trp518Arg
Likely pathogenic
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Tyr255His
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC26A4 p.Tyr315Cys Uncertain significance Single submitter
-
SLC26A4 p.Tyr375Cys
Conflicting
Single submitter
Pendred syndrome
-
SLC26A4 p.Val402Leu
Likely pathogenic
Single submitter
Pendred syndrome
-
SLC26A4 p.Val422Ala
Conflicting
Single submitter
Pendred syndrome
- SLC26A4 p.Val510Phe Uncertain significance Single submitter
-
SLC26A4 p.Val653Ala
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Val653Leu
Uncertain significance
Single submitter
Pendred syndrome
-
SLC26A4 p.Val670Ala
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Val673Gly
Conflicting
Single submitter
autosomal recessive nonsyndromic hearing loss 4
- SLC26A4 p.Val97Leu Uncertain significance Single submitter
- SLC26A4 p.Ser28Arg Likely pathogenic Single submitter
-
SLC26A4 p.Ala156Gly
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Ala180Val
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Arg776Pro
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Cys54Tyr
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Gly663Arg
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Ile264Thr
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Ile435Val
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Ile490Phe
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Leu219Val
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Lys329Gln
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Phe141Leu
Pathogenic
No assertion criteria
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Phe667Cys
Pathogenic
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Pro297Gln
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Ser137Pro
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Thr527Ala
Uncertain significance
No assertion criteria
SLC26A4-related disorder
-
SLC26A4 p.Thr67Pro
Benign
No assertion criteria
congenital hypothyroidism
-
SLC26A4 p.Tyr255Cys
Uncertain significance
No assertion criteria
Pendred syndrome
-
SLC26A4 p.Tyr27His
Pathogenic
No assertion criteria
autosomal recessive nonsyndromic hearing loss 4
-
SLC26A4 p.Tyr323Cys
Uncertain significance
No assertion criteria
Pendred syndrome
All SLC26A4 variants
Pathogenic 201
- c.919-2A>G Expert panel Pendred syndrome
- p.Ile124fs Expert panel Pendred syndrome
- p.Leu117Phe Expert panel Pendred syndrome
- p.Leu236Val Expert panel Pendred syndrome ⚠
- p.Thr410Met Expert panel Pendred syndrome
- p.Val138Phe Expert panel Pendred syndrome ⚠
- p.Val402Met Expert panel Pendred syndrome
- c.1001+1G>A Multiple submitters Monogenic hearing loss
- c.1001+2T>A Multiple submitters Pendred syndrome
- c.1149+3A>G Multiple submitters SLC26A4-related disorder
- c.1341+1del Multiple submitters Rare genetic deafness
- c.1341+1G>A Multiple submitters Pendred syndrome
- c.1341+1G>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1342-2_1343dup Multiple submitters Rare genetic deafness
- c.1614+1G>A Multiple submitters Rare genetic deafness
- c.164+2T>C Multiple submitters Rare genetic deafness
- c.1707+5G>A Multiple submitters Pendred syndrome
- c.2089+1G>A Multiple submitters Rare genetic deafness
- c.416-1G>A Multiple submitters SLC26A4-related disorder
- c.600+2T>A Multiple submitters Pendred syndrome
- c.601-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala106Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala352fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala372Val Multiple submitters Pendred syndrome
- p.Arg512fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asn392Tyr Multiple submitters SLC26A4-related disorder
- p.Cys400fs Multiple submitters Rare genetic deafness
- p.Cys565fs Multiple submitters Pendred syndrome
- p.Cys662fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Cys706Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln235Ter Multiple submitters Pendred syndrome
- p.Gln262fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln514Arg Multiple submitters SLC26A4-related disorder
- p.Gln514Lys Multiple submitters Pendred syndrome
- p.Gln696Ter Multiple submitters SLC26A4-related disorder
- p.Glu37Ter Multiple submitters Pendred syndrome
- p.Gly139fs Multiple submitters Pendred syndrome
- p.Gly197Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly316Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly497Ser Multiple submitters Deafness
- p.Ile742fs Multiple submitters Rare genetic deafness
- p.Leu117fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Leu445Trp Multiple submitters Monogenic hearing loss
- p.Leu727fs Multiple submitters Pendred syndrome
- p.Leu743Ter Multiple submitters Pendred syndrome
- p.Lys447fs Multiple submitters Pendred syndrome
- p.Lys564fs Multiple submitters Pendred syndrome
- p.Met147Val Multiple submitters Pendred syndrome
- p.Met1Thr Multiple submitters Rare genetic deafness
- p.Phe130fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Phe223Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Pro342fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Pro76Leu Multiple submitters Pendred syndrome ⚠
- p.Pro76Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser133Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser23Ter Multiple submitters Rare genetic deafness
- p.Ser252Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser57Ter Multiple submitters Pendred syndrome
- p.Thr416Pro Multiple submitters Monogenic hearing loss
- p.Thr94Ile Multiple submitters Pendred syndrome ⚠
- p.Val239Asp Multiple submitters Rare genetic deafness
- p.Val306fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Val659Leu Multiple submitters SLC26A4-related disorder ⚠
- c.1001+1G>C Single submitter
- c.1149+2T>C Single submitter Pendred syndrome
- c.1150-1G>C Single submitter
- c.1264-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1341+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1437+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.164+2T>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1703_1707+6del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2034+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2035-8_2035-2del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.304+941C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.415+2T>C Single submitter Pendred syndrome
- c.600+1G>T Single submitter Pendred syndrome
- c.765+4A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.918+1G>C Single submitter
- c.918+2T>A Single submitter
- c.918+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.-3-2A>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala109Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala184fs Single submitter Pendred syndrome
- p.Ala191_Leu192insTer Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala226fs Single submitter
- p.Ala227Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala411fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala584fs Single submitter Pendred syndrome
- p.Arg185Ter Single submitter
- p.Arg512_Gln514delinsSerProGlnLeuThrGlu Single submitter
- p.Arg677fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Arg714fs Single submitter
- p.Asn558Ile Single submitter
- p.Asn612fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asp628fs Single submitter
- p.Asp669fs Single submitter
- p.Asp754fs Single submitter
- p.Cys54Ter Single submitter
- p.Gln101Ter Single submitter
- p.Gln207Ter Single submitter Pendred syndrome
- p.Gln235Arg Single submitter
- p.Gln34fs Single submitter
- p.Gln34Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln413fs Single submitter Pendred syndrome
- p.Gln413Pro Single submitter
- p.Gln413Ter Single submitter
- p.Gln421Leu Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln464fs Single submitter
- p.Gln464Ter Single submitter
- p.Gln514Ter Single submitter
- p.Gln596Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln736fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln736Ter Single submitter
- p.Glu159fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Glu15Ter Single submitter
- p.Glu303del Single submitter
- p.Glu348Ter Single submitter
- p.Glu625Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Glu82fs Single submitter
- p.Gly168Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly222Asp Single submitter
- p.Gly222Ser Single submitter Pendred syndrome
- p.Gly368Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly368fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly381Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly571Ter Single submitter
- p.Gly672Arg Single submitter
- p.Ile430_Val431insTer Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile487fs Single submitter Pendred syndrome
- p.Leu108fs Single submitter
- p.Leu171Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu195fs Single submitter
- p.Leu345Ter Single submitter
- p.Leu72Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys440fs Single submitter
- p.Lys440Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys66fs Single submitter
- p.Phe122fs Single submitter
- p.Phe128fs Single submitter
- p.Phe203fs Single submitter
- p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu Single submitter Pendred syndrome
- p.Phe394fs Single submitter
- p.Phe398fs Single submitter
- p.Phe555_Tyr556insTer Single submitter
- p.Phe692Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro332fs Single submitter
- p.Pro338fs Single submitter
- p.Pro516fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser190fs Single submitter
- p.Ser28Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser314Ter Single submitter
- p.Ser347fs Single submitter
- p.Ser353Ter Single submitter
- p.Ser366Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser391Arg Single submitter Pendred syndrome
- p.Ser395Ter Single submitter
- p.Ser427Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser49fs Single submitter
- p.Ser532Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser532fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser606fs Single submitter
- p.Ser610Ter Single submitter Pendred syndrome
- p.Thr267fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Thr307Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Thr404Ile Single submitter SLC26A4-related disorder
- p.Thr745fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Trp482Arg Single submitter
- p.Trp83Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Tyr105Ter Single submitter
- p.Tyr214Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Tyr323Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Tyr377Ter Single submitter
- p.Tyr530Ter Single submitter
- p.Tyr556Ter Single submitter
- p.Tyr78Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val138fs Single submitter
- p.Val26fs Single submitter
- p.Val328Asp Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val671fs Single submitter
- c.1149+1del No assertion criteria Pendred syndrome
- c.1342-1_1342insCTG No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- c.1803+1G>C No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- c.305-1G>A No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- c.593_600+8del No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- c.600+2T>C No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Ala434fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Arg333fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Glu682Ter No assertion criteria Pendred syndrome
- p.Gly197Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Gly209fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Ile363Leu No assertion criteria Pendred syndrome ⚠
- p.Lys447Ter No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Met1Ile No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Phe141Leu No assertion criteria autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Phe223dup No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Phe667Cys No assertion criteria Pendred syndrome ⚠
- p.Ser344fs No assertion criteria Pendred syndrome
- p.Ser610fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Tyr27His No assertion criteria autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val233fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Val680fs No assertion criteria autosomal recessive nonsyndromic hearing loss 4
Pathogenic/Likely pathogenic 136
- c.1001+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1002del Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1149+1G>A Multiple submitters Pendred syndrome
- c.1149+1G>T Multiple submitters Rare genetic deafness
- c.1150-1G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1150-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1263+1G>A Multiple submitters Pendred syndrome
- c.1263+1G>T Multiple submitters Pendred syndrome
- c.1264-1G>C Multiple submitters Rare genetic deafness
- c.1437+1G>A Multiple submitters
- c.1437+2T>G Multiple submitters SLC26A4-related disorder
- c.1544+1G>A Multiple submitters Rare genetic deafness
- c.1544+5G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1614+1G>C Multiple submitters Rare genetic deafness
- c.1614+1G>T Multiple submitters Pendred syndrome
- c.1615-2A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.164+1del Multiple submitters SLC26A4-related disorder
- c.164+1G>C Multiple submitters Pendred syndrome
- c.165-1G>A Multiple submitters SLC26A4-related disorder
- c.1707+1G>A Multiple submitters Pendred syndrome
- c.1708-1G>A Multiple submitters Pendred syndrome
- c.1708-2A>G Multiple submitters Pendred syndrome
- c.1803+2T>C Multiple submitters Pendred syndrome
- c.2235+2T>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.2319+1G>A Multiple submitters Pendred syndrome
- c.304+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.412_415+21delinsTGACA Multiple submitters Pendred syndrome
- c.415+7A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.765+2T>C Multiple submitters Rare genetic deafness
- c.765+3A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.765+3A>T Multiple submitters Pendred syndrome
- c.918+1G>T Multiple submitters Rare genetic deafness
- c.918+2T>C Multiple submitters Pendred syndrome
- c.991_1001+7delinsCCCCA Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.-3-2A>G Multiple submitters Rare genetic deafness
- p.Ala110fs Multiple submitters Pendred syndrome
- p.Ala360Val Multiple submitters Pendred syndrome
- p.Ala387Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala411Pro Multiple submitters SLC26A4-related disorder
- p.Ala429del Multiple submitters Rare genetic deafness
- p.Ala664Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg409Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Arg409His Multiple submitters Rare genetic deafness
- p.Arg549Ter Multiple submitters Pendred syndrome
- p.Arg581fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Arg79Ter Multiple submitters SLC26A4-related disorder
- p.Asn246fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asn322fs Multiple submitters ear malformation
- p.Asn457Ile Multiple submitters Pendred syndrome
- p.Asn535fs Multiple submitters Pendred syndrome
- p.Asn558Ser Multiple submitters SLC26A4-related disorder ⚠
- p.Asp669Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asp669Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asp724Gly Multiple submitters Rare genetic deafness
- p.Asp87Tyr Multiple submitters SLC26A4-related disorder
- p.Cys662Tyr Multiple submitters Pendred syndrome
- p.Gln200fs Multiple submitters Pendred syndrome
- p.Gln200Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln230Ter Multiple submitters Pendred syndrome
- p.Gln383fs Multiple submitters SLC26A4-related disorder
- p.Gln413Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln421Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln446Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gln446Ter Multiple submitters Rare genetic deafness
- p.Gln739Ter Multiple submitters Rare genetic deafness
- p.Glu259fs Multiple submitters Pendred syndrome
- p.Glu29Gln Multiple submitters Monogenic hearing loss ⚠
- p.Glu29Ter Multiple submitters Rare genetic deafness
- p.Glu384Gln Multiple submitters Deafness
- p.Glu384Gly Multiple submitters Rare genetic deafness
- p.Glu48Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Glu626Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Glu9Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly102Arg Multiple submitters Pendred syndrome
- p.Gly139Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly209Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly209Val Multiple submitters Monogenic hearing loss
- p.Gly334Glu Multiple submitters Pendred syndrome
- p.Gly334Val Multiple submitters SLC26A4-related disorder
- p.Gly389fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly424Asp Multiple submitters Pendred syndrome ⚠
- p.Gly672Glu Multiple submitters Rare genetic deafness
- p.Gly95Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ile188Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile305fs Multiple submitters Pendred syndrome
- p.Ile529Ser Multiple submitters Pendred syndrome
- p.Leu215fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Leu236Pro Multiple submitters Monogenic hearing loss
- p.Leu251fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Leu506_Leu507insTer Multiple submitters Pendred syndrome
- p.Leu676fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Leu676Gln Multiple submitters SLC26A4-related disorder
- p.Lys369Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Lys44fs Multiple submitters Pendred syndrome
- p.Lys590Ter Multiple submitters Pendred syndrome
- p.Met147Thr Multiple submitters Pendred syndrome
- p.Met1Arg Multiple submitters Pendred syndrome
- p.Phe141Ser Multiple submitters Pendred syndrome ⚠
- p.Phe394del Multiple submitters Pendred syndrome
- p.Phe515Leu Multiple submitters Pendred syndrome ⚠
- p.Phe683Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Phe709fs Multiple submitters SLC26A4-related disorder
- p.Pro112Ser Multiple submitters Pendred syndrome
- p.Pro123Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Pro297fs Multiple submitters Pendred syndrome
- p.Ser133Pro Multiple submitters Pendred syndrome
- p.Ser133Thr Multiple submitters Pendred syndrome
- p.Ser19fs Multiple submitters Pendred syndrome
- p.Ser234Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser28Arg Multiple submitters Pendred syndrome ⚠
- p.Ser408fs Multiple submitters Pendred syndrome
- p.Ser448Leu Multiple submitters SLC26A4-related disorder
- p.Ser448Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser517fs Multiple submitters SLC26A4-related disorder
- p.Ser532Ile Multiple submitters Pendred syndrome ⚠
- p.Ser90Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser93Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser93fs Multiple submitters SLC26A4-related disorder
- p.Thr193Ile Multiple submitters SLC26A4-related disorder
- p.Thr410Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr508Ala Multiple submitters Rare genetic deafness ⚠
- p.Thr527Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr99fs Multiple submitters Rare genetic deafness
- p.Trp472Ter Multiple submitters Pendred syndrome
- p.Trp518Ter Multiple submitters Rare genetic deafness
- p.Trp74Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Tyr214Cys Multiple submitters Monogenic hearing loss
- p.Tyr530His Multiple submitters SLC26A4-related disorder
- p.Tyr556Cys Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Tyr78Cys Multiple submitters Pendred syndrome
- p.Val138Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val186fs Multiple submitters Pendred syndrome
- p.Val280fs Multiple submitters Pendred syndrome
- p.Val453fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1264-3C>G No assertion criteria hearing loss, autosomal recessive
- p.Lys52Ter No assertion criteria Deafness
Likely pathogenic 235
- p.Arg185Thr Expert panel Pendred syndrome
- p.Cys282Tyr Expert panel Pendred syndrome
- p.Cys565Tyr Expert panel Pendred syndrome ⚠
- p.Ile655Val Expert panel Pendred syndrome ⚠
- p.Phe335Leu Expert panel Pendred syndrome ⚠
- p.Val570Ile Expert panel Pendred syndrome ⚠
- c.1001+4A>G Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1342-1G>A Multiple submitters Pendred syndrome
- c.1614+5G>A Multiple submitters Pendred syndrome
- c.1707+2T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1708-1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1803+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.2034+1G>A Multiple submitters Pendred syndrome
- c.2035-2A>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.765_765+3del Multiple submitters Pendred syndrome
- c.765+1G>A Multiple submitters Pendred syndrome
- p.Ala106Val Multiple submitters Pendred syndrome
- p.Ala156Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala411Thr Multiple submitters Pendred syndrome
- p.Arg409Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Asn558fs Multiple submitters Pendred syndrome
- p.Asp573Tyr Multiple submitters Pendred syndrome
- p.Asp669Val Multiple submitters Pendred syndrome
- p.Gln589Ter Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Glu29Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly116Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly116Val Multiple submitters RASopathy
- p.Gly139Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly439Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Gly497Arg Multiple submitters Pendred syndrome
- p.His294fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Leu206Ter Multiple submitters sensorineural hearing loss disorder
- p.Leu68Pro Multiple submitters Pendred syndrome
- p.Phe32Leu Multiple submitters Pendred syndrome ⚠
- p.Phe335Val Multiple submitters Pendred syndrome ⚠
- p.Phe572Leu Multiple submitters Pendred syndrome ⚠
- p.Phe683fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Pro112Leu Multiple submitters SLC26A4-related disorder
- p.Pro140Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ser391Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr174fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr420Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Tyr530Ser Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Val170fs Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Val422Ile Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val97Glu Multiple submitters SLC26A4-related disorder ⚠
- c.1001+3G>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1001+5G>T Single submitter Pendred syndrome
- c.1002-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1002-31T>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1002-4C>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1264-12T>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1264-6T>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1334_1341+10del Single submitter Monogenic hearing loss
- c.1438-2A>G Single submitter Pendred syndrome
- c.1544+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1545-1G>A Single submitter
- c.1614+1del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1615-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.164+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1707+2T>G Single submitter
- c.1707+4_1707+7del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1708-27_1708-11del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1803+1G>A Single submitter Pendred syndrome
- c.2035-1G>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2035-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2035-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2089+1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2089+3A>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2235+2T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.2320-2A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.305-1G>C Single submitter
- c.305-1G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.305-2A>G Single submitter
- c.305-3467_766-972del Single submitter
- c.415+1G>C Single submitter
- c.416-2A>C Single submitter
- c.416-4_425del Single submitter
- c.601-2A>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.918+1dup Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.919-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.919-2A>C Single submitter
- p.(? Single submitter Rare genetic deafness
- p.Ala106Thr Single submitter
- p.Ala180fs Single submitter
- p.Ala310fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala362Asp Single submitter
- p.Ala372Thr Single submitter
- p.Ala387Ser Single submitter ⚠
- p.Ala403Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala403Val Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala406fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala406Thr Single submitter Pendred syndrome ⚠
- p.Ala451Glu Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala574Thr Single submitter Pendred syndrome ⚠
- p.Arg185fs Single submitter Pendred syndrome
- p.Arg24Leu Single submitter hearing loss, autosomal recessive
- p.Arg409Leu Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Arg549Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn457Asp Single submitter Pendred syndrome
- p.Asn457Lys Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asn457Ser Single submitter ⚠
- p.Asn558His Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asn579del Single submitter
- p.Asn641fs Single submitter Pendred syndrome
- p.Asp271_Phe272insTyrIleGlyAspThrAsnLeuAlaAsp Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asp271Gly Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asp271Tyr Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Asp573His Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Cys282Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Cys282Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Cys466fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Cys565Gly Single submitter hearing loss disorder ⚠
- p.Cys662Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln35fs Single submitter Pendred syndrome
- p.Gln383Glu Single submitter Pendred syndrome
- p.Gln413Leu Single submitter ⚠
- p.Gln421Lys Single submitter
- p.Gln421Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln514His Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gln514Leu Single submitter Pendred syndrome
- p.Gln514Pro Single submitter Pendred syndrome
- p.Gln739fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gln750Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Glu15fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Glu29Asp Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu303Gly Single submitter
- p.Glu339fs Single submitter Pendred syndrome
- p.Glu635fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Glu704fs Single submitter Pendred syndrome
- p.Glu744Ter Single submitter Pendred syndrome
- p.Gly116Asp Single submitter
- p.Gly131Ala Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly222Val Single submitter
- p.Gly326fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly389Arg Single submitter Pendred syndrome
- p.Gly418Ter Single submitter Pendred syndrome
- p.Gly424Arg Single submitter
- p.Gly424Val Single submitter ⚠
- p.Gly497fs Single submitter Pendred syndrome
- p.Gly544fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Gly557Val Single submitter Pendred syndrome ⚠
- p.His135Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.His36Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile136Asn Single submitter ⚠
- p.Ile238fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile379fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile386fs Single submitter Pendred syndrome
- p.Ile430fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile529Thr Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile539Val Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Leu195Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu219fs Single submitter Pendred syndrome
- p.Leu288fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu445Phe Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Leu471fs Single submitter Pendred syndrome
- p.Leu506Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu597Ter Single submitter Pendred syndrome
- p.Leu660His Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu676Pro Single submitter
- p.Leu68fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu729fs Single submitter Pendred syndrome
- p.Lys245fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys447delinsAsnLeu Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys459Ter Single submitter Pendred syndrome
- p.Lys59Ter Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys601fs Single submitter Pendred syndrome
- p.Lys66Ter Single submitter Pendred syndrome
- p.Lys77Ile Single submitter Pendred syndrome ⚠
- p.Met147Leu Single submitter ⚠
- p.Met1Leu Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Met461fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Phe484fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Phe667Leu Single submitter ⚠
- p.Pro140His Single submitter Pendred syndrome ⚠
- p.Pro516Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro70Ser Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser133Leu Single submitter
- p.Ser154fs Single submitter Pendred syndrome
- p.Ser314Leu Single submitter
- p.Ser366fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser415fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser427Tyr Single submitter Pendred syndrome
- p.Ser448Trp Single submitter Pendred syndrome
- p.Ser551fs Single submitter
- p.Ser552Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser552Ile Single submitter
- p.Ser657Arg Single submitter
- p.Ser741fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ser86fs Single submitter Pendred syndrome
- p.Thr132Ile Single submitter Pendred syndrome
- p.Thr410Pro Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Thr485Arg Single submitter Pendred syndrome
- p.Thr99Arg Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Trp482Ter Single submitter Pendred syndrome
- p.Trp518Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Tyr127His Single submitter
- p.Tyr255Ter Single submitter Pendred syndrome
- p.Tyr27Asp Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Tyr27fs Single submitter Pendred syndrome
- p.Tyr530Asp Single submitter
- p.Tyr536Asn Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val111Phe Single submitter
- p.Val113fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val231Ala Single submitter
- p.Val231Glu Single submitter Pendred syndrome
- p.Val231Met Single submitter
- p.Val402= Single submitter
- p.Val402Leu Single submitter Pendred syndrome ⚠
- p.Val510Asp Single submitter Pendred syndrome
- p.Val577Gly Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val653fs Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Val659Ala Single submitter
- p.Val688fs Single submitter Pendred syndrome
- p.Val690Glu Single submitter Pendred syndrome
- p.Ser28Arg Single submitter ⚠
- c.1342-1G>T No assertion criteria Pendred syndrome
- c.1342-2A>C No assertion criteria Pendred syndrome
- c.1539_1544+6del No assertion criteria Pendred syndrome
- c.164+2T>A No assertion criteria Pendred syndrome
- c.165-2A>G No assertion criteria Pendred syndrome
- c.2089+2T>A No assertion criteria Pendred syndrome
- c.919-19_932del No assertion criteria Pendred syndrome
- p.Arg134Thr No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Asn689fs No assertion criteria Pendred syndrome
- p.Gly334= No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.His656fs No assertion criteria Pendred syndrome
- p.Leu442Pro No assertion criteria autosomal recessive nonsyndromic hearing loss 4
- p.Lys286_Glu287insTer No assertion criteria Pendred syndrome
- p.Trp518Gly No assertion criteria autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Trp640Ter No assertion criteria Pendred syndrome
- p.Val138Asp No assertion criteria hearing loss, autosomal recessive
- p.Val152fs No assertion criteria Pendred syndrome
- p.Val570Phe No assertion criteria Pendred syndrome
- p.Val650Asp No assertion criteria Pendred syndrome
Conflicting classifications of pathogenicity 102
- c.1544+9C>T Single submitter Pendred syndrome
- c.1545-7del Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.1614+7A>G Single submitter Pendred syndrome
- c.1707+6T>C Single submitter Rare genetic deafness
- c.1708-14A>G Single submitter
- c.1804-6G>A Single submitter
- c.2236-15G>A Single submitter Pendred syndrome
- c.2236-6T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.416-13T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.601-5C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.765+4A>T Single submitter Pendred syndrome
- c.765+5G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.-4+5G>A Single submitter Rare genetic deafness
- c.*239C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*350C>T Single submitter Pendred syndrome
- c.*376A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*614C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*69C>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala120Pro Single submitter ⚠
- p.Ala179Thr Single submitter Pendred syndrome ⚠
- p.Ala180= Single submitter Pendred syndrome
- p.Ala191Val Single submitter Pendred syndrome ⚠
- p.Ala226= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala310Val Single submitter Pendred syndrome ⚠
- p.Ala387Asp Single submitter ⚠
- p.Ala437_Leu438del Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala599Val Single submitter Pendred syndrome ⚠
- p.Arg24Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg677Trp Single submitter Pendred syndrome ⚠
- p.Arg776Cys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn322Asp Single submitter Pendred syndrome ⚠
- p.Asp266Asn Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asp560Asn Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asp661Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asp87Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu29Gly Single submitter SLC26A4-related disorder ⚠
- p.Glu635= Single submitter Inborn genetic diseases
- p.Glu737Asp Single submitter hearing loss, autosomal recessive ⚠
- p.Gly102Glu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly114Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly497= Single submitter Pendred syndrome
- p.Gly557Asp Single submitter ⚠
- p.Gly6Val Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly740Val Single submitter Rare genetic deafness ⚠
- p.Ile136Val Single submitter Pendred syndrome ⚠
- p.Ile198= Single submitter
- p.Ile356= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ile433= Single submitter
- p.Ile490Leu Single submitter Pendred syndrome ⚠
- p.Ile524= Single submitter
- p.Ile539Thr Single submitter Inborn genetic diseases ⚠
- p.Ile566Met Single submitter ⚠
- p.Leu100Pro Single submitter hearing loss disorder ⚠
- p.Leu350= Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Leu597Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Leu624Pro Single submitter ⚠
- p.Leu668Pro Single submitter Pendred syndrome ⚠
- p.Leu75= Single submitter hearing loss disorder
- p.Lys531Gln Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Lys601= Single submitter Pendred syndrome
- p.Met147Ile Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Met21Val Single submitter ⚠
- p.Phe161Ile Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Phe504Ser Single submitter SLC26A4-related disorder ⚠
- p.Phe667Ser Single submitter Pendred syndrome ⚠
- p.Phe718Ser Single submitter SLC26A4-related disorder ⚠
- p.Pro10Thr Single submitter SLC26A4-related disorder ⚠
- p.Pro140Leu Single submitter Pendred syndrome ⚠
- p.Pro142Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro516Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro525Leu Single submitter Pendred syndrome ⚠
- p.Pro76Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser252Phe Single submitter ⚠
- p.Ser347Leu Single submitter Inborn genetic diseases ⚠
- p.Ser415Gly Single submitter Monogenic hearing loss ⚠
- p.Ser448= Single submitter
- p.Ser93Asn Single submitter Pendred syndrome ⚠
- p.Thr244= Single submitter
- p.Thr307= Single submitter
- p.Thr307Met Single submitter ⚠
- p.Thr405Ile Single submitter SLC26A4-related disorder ⚠
- p.Thr410Ala Single submitter ⚠
- p.Thr761= Single submitter Inborn genetic diseases
- p.Trp482Ser Single submitter Inborn genetic diseases ⚠
- p.Trp640Cys Single submitter SLC26A4-related disorder ⚠
- p.Tyr375Cys Single submitter Pendred syndrome ⚠
- p.Tyr78His Single submitter Pendred syndrome ⚠
- p.Val186Phe Single submitter Pendred syndrome ⚠
- p.Val196Asp Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val231Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val233Leu Single submitter SLC26A4-related disorder ⚠
- p.Val281Ile Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val343Leu Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val370= Single submitter Pendred syndrome
- p.Val412Phe Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val422Ala Single submitter Pendred syndrome ⚠
- p.Val422Gly Single submitter ⚠
- p.Val480Asp Single submitter Pendred syndrome ⚠
- p.Val670Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val673Gly Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val680= Single submitter Pendred syndrome
- p.Val690Ala Single submitter Pendred syndrome ⚠
Benign 48
- c.1708-18T>A Expert panel Pendred syndrome
- c.416-7T>C Expert panel Pendred syndrome
- p.Ala189Ser Expert panel Pendred syndrome
- p.Ile455Phe Expert panel Pendred syndrome ⚠
- c.1002-9A>C Multiple submitters Pendred syndrome
- c.1150-135C>T Multiple submitters
- c.1264-187C>T Multiple submitters
- c.165-113C>T Multiple submitters
- c.165-119A>T Multiple submitters
- c.1707+76G>C Multiple submitters
- c.2236-151G>T Multiple submitters
- c.601-17C>T Multiple submitters
- c.-4+90T>G Multiple submitters
- c.*868G>A Multiple submitters Pendred syndrome
- c.1001+131G>T Single submitter
- c.1001+168A>G Single submitter
- c.1001+30A>G Single submitter Pendred syndrome
- c.1263+319T>C Single submitter
- c.1264-335T>A Single submitter
- c.1341+47T>C Single submitter
- c.1437+187T>G Single submitter
- c.1438-105del Single submitter
- c.1438-258G>T Single submitter
- c.1438-320C>A Single submitter
- c.1438-7del Single submitter Pendred syndrome
- c.1615-140del Single submitter
- c.1615-141_1615-140del Single submitter
- c.1615-142_1615-140del Single submitter
- c.164+150T>A Single submitter
- c.1707+211T>C Single submitter
- c.2035-210C>T Single submitter
- c.2035-9del Single submitter
- c.2090-59AAAC[3] Single submitter Pendred syndrome
- c.2235+135dup Single submitter
- c.2320-173_2320-172del Single submitter
- c.2320-173_2320-172dup Single submitter
- c.304+316C>T Single submitter
- c.416-196C>T Single submitter
- c.416-8_416-7del Single submitter
- c.601-266T>G Single submitter
- c.765+194A>G Single submitter
- c.765+196_765+197del Single submitter
- c.765+197del Single submitter
- c.766-20A>C Single submitter
- c.919-18T>G Single submitter Pendred syndrome
- c.*1797G>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Lys286= Single submitter
- p.Thr67Pro No assertion criteria congenital hypothyroidism ⚠
Benign/Likely benign 20
- c.1438-14A>G Multiple submitters
- c.1438-7dup Multiple submitters Pendred syndrome
- c.1545-14_1545-12del Multiple submitters
- c.1545-5T>G Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.1614+8C>T Multiple submitters
- c.2236-25T>A Multiple submitters Pendred syndrome
- c.416-16G>T Multiple submitters Pendred syndrome
- c.416-7del Multiple submitters
- c.-66C>G Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.*11G>A Multiple submitters Pendred syndrome
- p.Asn324Tyr Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gln730His Multiple submitters Pendred syndrome
- p.Gly740Ser Multiple submitters Pendred syndrome
- p.Ile300Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile490= Multiple submitters
- p.Leu496= Multiple submitters Pendred syndrome
- p.Lys580= Multiple submitters Pendred syndrome
- p.Met283Ile Multiple submitters Pendred syndrome
- p.Val609Gly Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.*1302T>G Single submitter autosomal recessive nonsyndromic hearing loss 4
Likely benign 531
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala357Thr Expert panel Pendred syndrome ⚠
- p.Asn538= Expert panel Pendred syndrome
- p.Phe354Ser Expert panel nonsyndromic genetic hearing loss
- p.Ser49Arg Expert panel Pendred syndrome
- p.Thr67Ser Expert panel Pendred syndrome
- c.1149+191T>A Multiple submitters
- c.1342-10C>T Multiple submitters
- c.1437+19A>G Multiple submitters
- c.1545-5T>C Multiple submitters
- c.1803+10C>T Multiple submitters
- c.2034+132G>A Multiple submitters
- c.2089+123T>C Multiple submitters
- c.2320-4A>C Multiple submitters Pendred syndrome
- c.-3-195C>T Multiple submitters
- c.-3-261C>T Multiple submitters
- p.Ala228= Multiple submitters
- p.Ala61= Multiple submitters
- p.Asn602= Multiple submitters
- p.Asn649= Multiple submitters
- p.Asp669= Multiple submitters
- p.Glu37= Multiple submitters
- p.Gly316= Multiple submitters
- p.Leu729= Multiple submitters Pendred syndrome
- p.Lys632= Multiple submitters
- p.Pro338= Multiple submitters
- p.Ser330= Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr256= Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Thr485= Multiple submitters
- p.Thr717= Multiple submitters Pendred syndrome
- p.Tyr536= Multiple submitters
- p.Val170= Multiple submitters Pendred syndrome
- p.Pro11= Single submitter
- c.1001+10G>C Single submitter
- c.1001+11T>C Single submitter
- c.1001+15C>T Single submitter
- c.1002-17A>C Single submitter
- c.1002-17A>T Single submitter
- c.1002-26G>A Single submitter
- c.1149+10C>G Single submitter
- c.1149+16T>G Single submitter
- c.1149+20G>C Single submitter
- c.1149+7G>A Single submitter
- c.1149+9G>T Single submitter
- c.1150-56G>A Single submitter
- c.1150-9C>T Single submitter
- c.1263+11C>T Single submitter
- c.1263+12A>G Single submitter
- c.1263+20del Single submitter
- c.1263+20G>A Single submitter
- c.1263+35G>T Single submitter
- c.1264-15G>A Single submitter
- c.1264-15GT[3] Single submitter
- c.1264-16G>A Single submitter
- c.1264-17A>T Single submitter
- c.1264-232G>A Single submitter
- c.1264-4C>T Single submitter Pendred syndrome
- c.1264-7C>T Single submitter
- c.1341+11G>T Single submitter
- c.1341+12C>T Single submitter
- c.1341+15_1341+17del Single submitter
- c.1341+17C>G Single submitter
- c.1341+18T>G Single submitter
- c.1341+7C>G Single submitter
- c.1341+7C>T Single submitter
- c.1341+9C>T Single submitter
- c.1342-12C>T Single submitter
- c.1342-13T>A Single submitter
- c.1342-13TC[2] Single submitter
- c.1342-14G>A Single submitter
- c.1342-18C>G Single submitter
- c.1342-4G>A Single submitter
- c.1342-6T>C Single submitter
- c.1342-7T>C Single submitter
- c.1437+10C>G Single submitter
- c.1437+110A>G Single submitter
- c.1437+11T>C Single submitter
- c.1437+13C>G Single submitter
- c.1437+16C>G Single submitter
- c.1437+17C>T Single submitter
- c.1437+20T>C Single submitter
- c.1437+7C>A Single submitter
- c.1437+7C>T Single submitter
- c.1437+9C>A Single submitter
- c.1438-154C>T Single submitter
- c.1438-16C>A Single submitter
- c.1438-4C>G Single submitter
- c.1438-4dup Single submitter
- c.1438-6C>T Single submitter
- c.1438-7T>C Single submitter
- c.1438-8T>C Single submitter
- c.1544+10G>A Single submitter
- c.1544+15A>G Single submitter
- c.1544+16C>T Single submitter
- c.1544+7A>G Single submitter
- c.1544+9C>A Single submitter
- c.1544+9C>G Single submitter Pendred syndrome
- c.1545-11T>G Single submitter
- c.1545-16A>G Single submitter
- c.1545-16A>T Single submitter
- c.1545-3T>C Single submitter
- c.1545-6T>C Single submitter
- c.1545-7C>T Single submitter
- c.1545-8T>C Single submitter
- c.1614+11T>C Single submitter
- c.1614+13G>T Single submitter
- c.1614+20A>T Single submitter
- c.1614+8C>A Single submitter
- c.1614+9C>A Single submitter Pendred syndrome
- c.1614+9C>T Single submitter
- c.1615-14T>G Single submitter
- c.1615-18A>G Single submitter
- c.1615-18A>T Single submitter
- c.1615-19C>T Single submitter
- c.1615-4C>A Single submitter
- c.1615-4C>T Single submitter
- c.1615-5G>A Single submitter
- c.1615-6T>C Single submitter
- c.1615-8A>T Single submitter
- c.164+10G>C Single submitter
- c.164+12G>T Single submitter
- c.164+14G>C Single submitter
- c.164+20G>A Single submitter
- c.164+20G>T Single submitter
- c.164+6G>T Single submitter
- c.164+9C>A Single submitter
- c.164+9C>T Single submitter
- c.165-20G>C Single submitter
- c.165-4A>C Single submitter
- c.165-4A>G Single submitter
- c.165-8T>C Single submitter
- c.1707+12A>T Single submitter
- c.1707+13T>C Single submitter
- c.1707+14C>T Single submitter
- c.1707+15C>A Single submitter
- c.1707+15C>G Single submitter
- c.1707+18A>G Single submitter
- c.1707+7A>C Single submitter
- c.1707+8T>A Single submitter
- c.1708-15C>T Single submitter
- c.1708-17G>A Single submitter
- c.1708-4A>C Single submitter
- c.1708-4A>G Single submitter
- c.1708-5C>T Single submitter
- c.1708-6C>T Single submitter
- c.1803+13C>T Single submitter
- c.1803+16del Single submitter
- c.1803+16T>C Single submitter
- c.1804-12T>C Single submitter
- c.1804-12T>G Single submitter
- c.1804-130C>T Single submitter
- c.1804-17G>A Single submitter
- c.1804-6G>C Single submitter
- c.1804-6G>T Single submitter
- c.1804-7C>T Single submitter
- c.1804-7del Single submitter
- c.1804-87T>G Single submitter
- c.1804-9T>C Single submitter
- c.2034+10T>C Single submitter
- c.2034+11G>T Single submitter
- c.2034+14T>C Single submitter
- c.2034+167C>G Single submitter
- c.2034+18T>C Single submitter
- c.2034+53T>C Single submitter
- c.2035-10T>G Single submitter
- c.2035-11T>C Single submitter
- c.2035-13T>G Single submitter
- c.2035-16_2035-14del Single submitter
- c.2035-16C>T Single submitter
- c.2035-19T>C Single submitter
- c.2035-20C>T Single submitter
- c.2035-222T>C Single submitter
- c.2035-7T>C Single submitter
- c.2035-8A>T Single submitter
- c.2089+11A>G Single submitter
- c.2089+12T>C Single submitter
- c.2089+13A>G Single submitter
- c.2089+13A>T Single submitter
- c.2089+15C>T Single submitter
- c.2089+178T>C Single submitter
- c.2089+19A>C Single submitter
- c.2089+9A>C Single submitter
- c.2089+9A>G Single submitter Pendred syndrome
- c.2090-196G>T Single submitter
- c.2090-4G>A Single submitter
- c.2090-4G>T Single submitter
- c.2235+10C>A Single submitter
- c.2235+12A>G Single submitter
- c.2235+13C>T Single submitter
- c.2235+14C>A Single submitter
- c.2235+154A>G Single submitter
- c.2235+16T>G Single submitter
- c.2235+306C>T Single submitter
- c.2236-12C>T Single submitter
- c.2236-130A>G Single submitter
- c.2236-165T>C Single submitter
- c.2236-18T>C Single submitter
- c.2236-19C>T Single submitter
- c.2236-9T>C Single submitter
- c.2319+11T>C Single submitter
- c.2319+13T>C Single submitter
- c.2319+13T>G Single submitter
- c.2319+16T>C Single submitter
- c.2319+19G>A Single submitter
- c.2319+7T>A Single submitter Pendred syndrome
- c.2319+8C>A Single submitter
- c.2320-123T>C Single submitter
- c.2320-12T>C Single submitter
- c.2320-14C>T Single submitter
- c.2320-186C>A Single submitter
- c.2320-18T>C Single submitter
- c.2320-4A>G Single submitter Pendred syndrome
- c.2320-5C>T Single submitter
- c.2320-7T>C Single submitter
- c.2320-9C>T Single submitter
- c.304+10T>C Single submitter
- c.304+12G>A Single submitter
- c.304+15G>C Single submitter
- c.304+7T>A Single submitter
- c.304+8G>A Single submitter
- c.305-7C>T Single submitter
- c.415+10_415+15del Single submitter
- c.415+12T>C Single submitter
- c.415+16T>C Single submitter
- c.415+17_415+27del Single submitter
- c.415+75T>C Single submitter
- c.415+8_415+12dup Single submitter
- c.416-123C>A Single submitter
- c.416-14C>A Single submitter
- c.416-15del Single submitter
- c.416-16G>A Single submitter
- c.416-18_416-13del Single submitter
- c.416-181dup Single submitter
- c.416-19A>G Single submitter
- c.416-5C>T Single submitter
- c.600+10T>G Single submitter
- c.600+24T>C Single submitter
- c.600+83C>G Single submitter
- c.601-16C>A Single submitter
- c.601-16del Single submitter
- c.601-4G>A Single submitter
- c.601-6T>C Single submitter
- c.765+10G>A Single submitter
- c.765+14C>T Single submitter
- c.765+17G>T Single submitter
- c.765+196_765+197dup Single submitter
- c.765+196_765+197insGAA Single submitter
- c.765+197dup Single submitter
- c.765+232dup Single submitter
- c.765+249T>C Single submitter
- c.765+7del Single submitter
- c.765+8T>C Single submitter
- c.766-12T>G Single submitter
- c.766-14T>C Single submitter
- c.766-16T>C Single submitter
- c.766-4A>G Single submitter Pendred syndrome
- c.766-7T>C Single submitter
- c.918+11T>A Single submitter
- c.918+13T>C Single submitter
- c.918+16A>G Single submitter
- c.918+17G>A Single submitter
- c.919-10T>C Single submitter
- c.919-14_919-13del Single submitter
- c.919-16T>C Single submitter
- c.919-17C>A Single submitter
- c.919-17C>T Single submitter
- c.919-7A>C Single submitter
- c.919-9T>G Single submitter Pendred syndrome
- c.-3-109dup Single submitter
- c.*692C>A Single submitter
- c.*806A>G Single submitter
- p.Ala104= Single submitter
- p.Ala120= Single submitter
- p.Ala189= Single submitter
- p.Ala3= Single submitter
- p.Ala31= Single submitter
- p.Ala351= Single submitter
- p.Ala364= Single submitter
- p.Ala411= Single submitter
- p.Ala429= Single submitter Pendred syndrome
- p.Ala456= Single submitter
- p.Ala51= Single submitter
- p.Ala584= Single submitter
- p.Ala608= Single submitter
- p.Ala614= Single submitter
- p.Ala693= Single submitter
- p.Ala774= Single submitter
- p.Ala779= Single submitter
- p.Ala98= Single submitter
- p.Arg134= Single submitter
- p.Arg213= Single submitter
- p.Arg291= Single submitter
- p.Arg293= Single submitter
- p.Arg333= Single submitter
- p.Arg39= Single submitter
- p.Arg47= Single submitter
- p.Arg470= Single submitter
- p.Arg512= Single submitter
- p.Arg549= Single submitter
- p.Arg576= Single submitter
- p.Arg677= Single submitter
Uncertain significance 382
Showing the top 300 by review status; the full set is in the sitemap.
- c.-103T>C Expert panel Pendred syndrome
- p.Gln421Arg Expert panel Pendred syndrome ⚠
- p.Ser642Pro Expert panel Pendred syndrome ⚠
- p.Thr485Met Expert panel Pendred syndrome ⚠
- p.Thr764Met Expert panel Pendred syndrome ⚠
- c.2089+3A>G Multiple submitters Pendred syndrome
- c.415+4A>G Multiple submitters Pendred syndrome
- c.-8G>A Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.*200A>T Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- c.*51T>C Multiple submitters autosomal recessive nonsyndromic hearing loss 4
- p.Ala226Thr Multiple submitters Pendred syndrome ⚠
- p.Ala284Thr Multiple submitters ⚠
- p.Ala429Glu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala434Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala434Thr Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala584Val Multiple submitters ⚠
- p.Arg134Ile Multiple submitters ⚠
- p.Arg213Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg291Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg291Trp Multiple submitters Pendred syndrome ⚠
- p.Arg43His Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg470Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg79Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn268Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn382Lys Multiple submitters hearing loss disorder ⚠
- p.Asp182Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asp687Tyr Multiple submitters Pendred syndrome ⚠
- p.Asp697Asn Multiple submitters ⚠
- p.Asp711Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Cys54= Multiple submitters
- p.Gln589Pro Multiple submitters Pendred syndrome ⚠
- p.Gln637Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu287Gln Multiple submitters ⚠
- p.Glu757_Leu758insSer Multiple submitters Pendred syndrome
- p.Glu773Lys Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly149Arg Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly63Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile124Asn Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile199Thr Multiple submitters ⚠
- p.Ile202Thr Multiple submitters ⚠
- p.Ile296Val Multiple submitters Pendred syndrome ⚠
- p.Ile379Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile491Thr Multiple submitters Pendred syndrome ⚠
- p.Ile539Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile621Val Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Leu743Ser Multiple submitters Pendred syndrome ⚠
- p.Met155Val Multiple submitters Pendred syndrome ⚠
- p.Met349Ile Multiple submitters Pendred syndrome
- p.Phe122Leu Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro25Arg Multiple submitters ⚠
- p.Pro542Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser165Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser399Pro Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser657Cys Multiple submitters Pendred syndrome ⚠
- p.Ser666Pro Multiple submitters SLC26A4-related disorder ⚠
- p.Thr631Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr745Met Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Thr99Met Multiple submitters ⚠
- p.Val143Leu Multiple submitters ⚠
- p.Val163Ala Multiple submitters ⚠
- p.Val22Ala Multiple submitters ⚠
- p.Val412Ile Multiple submitters Pendred syndrome ⚠
- p.Val570Ala Multiple submitters ⚠
- p.Val577Ala Multiple submitters autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val670Ile Multiple submitters Pendred syndrome ⚠
- p.Val688Ala Multiple submitters ⚠
- p.Val97Ala Multiple submitters ⚠
- c.1002-12A>G Single submitter
- c.1263+1841G>A Single submitter
- c.1614+2dup Single submitter
- c.1615-866G>A Single submitter
- c.2089+4A>G Single submitter
- c.2235+2dup Single submitter
- c.416-12T>A Single submitter
- c.601-147A>C Single submitter
- c.-186A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.-4+5G>C Single submitter
- c.-40C>T Single submitter Pendred syndrome
- c.*1059T>C Single submitter Pendred syndrome
- c.*1068T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1123A>G Single submitter Pendred syndrome
- c.*1200G>A Single submitter Pendred syndrome
- c.*120G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1277A>G Single submitter Pendred syndrome
- c.*1466T>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1517G>C Single submitter Pendred syndrome
- c.*1530A>G Single submitter
- c.*1558T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1563C>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1610C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1640G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1672G>A Single submitter Pendred syndrome
- c.*1682C>T Single submitter Pendred syndrome
- c.*16G>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1700A>T Single submitter Pendred syndrome
- c.*1735C>T Single submitter Pendred syndrome
- c.*1789G>A Single submitter Pendred syndrome
- c.*1836C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1868C>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1875G>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1905G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1945G>A Single submitter Pendred syndrome
- c.*1960T>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*1982C>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*201C>A Single submitter Pendred syndrome
- c.*202G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*2047A>G Single submitter Pendred syndrome
- c.*2065G>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*2093T>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*2147G>A Single submitter Pendred syndrome
- c.*2237A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*2307A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*343C>A Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*351G>A Single submitter Pendred syndrome
- c.*36C>T Single submitter Pendred syndrome
- c.*397T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*409A>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*523A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*618A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*780T>C Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*791A>G Single submitter autosomal recessive nonsyndromic hearing loss 4
- c.*840C>T Single submitter autosomal recessive nonsyndromic hearing loss 4
- p.Ala104Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ala110Thr Single submitter Pendred syndrome ⚠
- p.Ala180Asp Single submitter Inborn genetic diseases ⚠
- p.Ala216Val Single submitter Inborn genetic diseases ⚠
- p.Ala270Val Single submitter ⚠
- p.Ala351Gly Single submitter ⚠
- p.Ala352Thr Single submitter Pendred syndrome ⚠
- p.Ala406Pro Single submitter
- p.Ala428Val Single submitter ⚠
- p.Ala61Ser Single submitter ⚠
- p.Ala693Val Single submitter Pendred syndrome ⚠
- p.Ala779Pro Single submitter ⚠
- p.Ala779Val Single submitter Inborn genetic diseases ⚠
- p.Arg333Lys Single submitter ⚠
- p.Arg38Gln Single submitter Inborn genetic diseases ⚠
- p.Arg43Leu Single submitter Inborn genetic diseases ⚠
- p.Arg470His Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Arg576Gly Single submitter ⚠
- p.Arg576Thr Single submitter ⚠
- p.Arg677Pro Single submitter Pendred syndrome ⚠
- p.Arg776Gly Single submitter ⚠
- p.Arg7Lys Single submitter ⚠
- p.Asn167Lys Single submitter ⚠
- p.Asn172Ser Single submitter Pendred syndrome ⚠
- p.Asn241Ile Single submitter ⚠
- p.Asn246His Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asn579Ser Single submitter ⚠
- p.Asn689Lys Single submitter ⚠
- p.Asn689Tyr Single submitter ⚠
- p.Asp177Ala Single submitter hearing loss disorder ⚠
- p.Asp380Gly Single submitter Inborn genetic diseases ⚠
- p.Asp618Asn Single submitter ⚠
- p.Asp639Tyr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Asp661Gly Single submitter ⚠
- p.Asp772Tyr Single submitter Pendred syndrome ⚠
- p.Asp87Glu Single submitter ⚠
- p.Cys565Trp Single submitter ⚠
- p.Gln35Leu Single submitter Inborn genetic diseases ⚠
- p.Gln732Lys Single submitter ⚠
- p.Gln736Pro Single submitter Inborn genetic diseases ⚠
- p.Glu159Lys Single submitter Pendred syndrome ⚠
- p.Glu15Lys Single submitter ⚠
- p.Glu303Asp Single submitter ⚠
- p.Glu414Gly Single submitter ⚠
- p.Glu42Lys Single submitter Inborn genetic diseases ⚠
- p.Glu443Gln Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Glu540Lys Single submitter ⚠
- p.Glu744Gly Single submitter ⚠
- p.Glu762Ter Single submitter
- p.Glu9Lys Single submitter ⚠
- p.Gly197Glu Single submitter Pendred syndrome ⚠
- p.Gly221Cys Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly222Cys Single submitter ⚠
- p.Gly265Ala Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly334Trp Single submitter ⚠
- p.Gly418Ala Single submitter ⚠
- p.Gly418Arg Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Gly418Glu Single submitter ⚠
- p.Gly493Arg Single submitter ⚠
- p.Gly561Cys Single submitter Pendred syndrome ⚠
- p.Gly63Ser Single submitter Pendred syndrome ⚠
- p.Gly738Ser Single submitter Inborn genetic diseases ⚠
- p.Gly91Val Single submitter Inborn genetic diseases ⚠
- p.Gly95Arg Single submitter ⚠
- p.Ile136Thr Single submitter ⚠
- p.Ile176Thr Single submitter ⚠
- p.Ile211Met Single submitter Pendred syndrome ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile260Thr Single submitter Inborn genetic diseases
- p.Ile296Asn Single submitter Pendred syndrome ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile305Thr Single submitter Inborn genetic diseases ⚠
- p.Ile308Thr Single submitter ⚠
- p.Ile363Val Single submitter ⚠
- p.Ile379Val Single submitter Pendred syndrome ⚠
- p.Ile393Val Single submitter ⚠
- p.Ile426Asn Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile503Met Single submitter Inborn genetic diseases ⚠
- p.Ile524Leu Single submitter ⚠
- p.Ile547Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile554Met Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ile621_Pro630dup Single submitter
- p.Ile634Thr Single submitter ⚠
- p.Ile679Thr Single submitter congenital hypothyroidism ⚠
- p.Ile742Thr Single submitter Inborn genetic diseases ⚠
- p.Leu206Val Single submitter ⚠
- p.Leu257Pro Single submitter ⚠
- p.Leu441Phe Single submitter ⚠
- p.Leu458Met Single submitter Inborn genetic diseases ⚠
- p.Leu471Pro Single submitter ⚠
- p.Leu496Phe Single submitter ⚠
- p.Leu499Arg Single submitter ⚠
- p.Leu507Phe Single submitter Inborn genetic diseases ⚠
- p.Leu658Phe Single submitter ⚠
- p.Leu660Pro Single submitter ⚠
- p.Leu695Phe Single submitter Inborn genetic diseases ⚠
- p.Leu72Ser Single submitter Inborn genetic diseases ⚠
- p.Leu743Val Single submitter ⚠
- p.Leu748Val Single submitter Pendred syndrome ⚠
- p.Leu778Arg Single submitter ⚠
- p.Leu778Phe Single submitter ⚠
- p.Lys374Arg Single submitter ⚠
- p.Lys440Asn Single submitter ⚠
- p.Lys52Glu Single submitter ⚠
- p.Lys531Arg Single submitter ⚠
- p.Lys531Thr Single submitter ⚠
- p.Lys546Glu Single submitter ⚠
- p.Lys567Asn Single submitter
- p.Lys81Glu Single submitter ⚠
- p.Met103Thr Single submitter Inborn genetic diseases ⚠
- p.Met155Ile Single submitter Inborn genetic diseases ⚠
- p.Met349Thr Single submitter Inborn genetic diseases
- p.Met432Leu Single submitter ⚠
- p.Met461Ile Single submitter ⚠
- p.Met461Lys Single submitter ⚠
- p.Met775Ile Single submitter Inborn genetic diseases ⚠
- p.Met775Thr Single submitter ⚠
- p.Met775Val Single submitter ⚠
- p.Phe122Tyr Single submitter Inborn genetic diseases
- p.Phe335Ile Single submitter ⚠
- p.Phe346Ile Single submitter ⚠
- p.Phe346Leu Single submitter ⚠
- p.Phe550Leu Single submitter ⚠
- p.Phe550Ser Single submitter ⚠
- p.Phe562Val Single submitter Inborn genetic diseases ⚠
- p.Pro112Ala Single submitter ⚠
- p.Pro299Ser Single submitter ⚠
- p.Pro553Ser Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Pro70Leu Single submitter ⚠
- p.Ser165Thr Single submitter ⚠
- p.Ser166Asn Single submitter ⚠
- p.Ser17Gly Single submitter ⚠
- p.Ser252Thr Single submitter ⚠
- p.Ser415Asn Single submitter ⚠
- p.Ser415Ile Single submitter ⚠
- p.Ser415Thr Single submitter ⚠
- p.Ser523Asn Single submitter Inborn genetic diseases ⚠
- p.Ser532Gly Single submitter ⚠
- p.Ser55Ile Single submitter ⚠
- p.Ser55Thr Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Ser568Tyr Single submitter ⚠
- p.Ser606Asn Single submitter Inborn genetic diseases ⚠
- p.Ser666Thr Single submitter Pendred syndrome ⚠
- p.Ser666Tyr Single submitter ⚠
- p.Ser735Cys Single submitter ⚠
- p.Thr174Ser Single submitter ⚠
- p.Thr178Pro Single submitter ⚠
- p.Thr256Lys Single submitter ⚠
- p.Thr256Met Single submitter ⚠
- p.Thr745= Single submitter
- p.Thr764fs Single submitter
- p.Thr99Lys Single submitter ⚠
- p.Trp472Arg Single submitter ⚠
- p.Trp83Gly Single submitter ⚠
- p.Tyr105Cys Single submitter ⚠
- p.Tyr255His Single submitter Inborn genetic diseases ⚠
- p.Tyr315Cys Single submitter ⚠
- p.Val143Met Single submitter ⚠
- p.Val144Ala Single submitter ⚠
- p.Val152Ile Single submitter ⚠
- p.Val163Gly Single submitter ⚠
- p.Val163Leu Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val250Ala Single submitter ⚠
- p.Val280Ile Single submitter ⚠
- p.Val358Met Single submitter ⚠
- p.Val454Ile Single submitter ⚠
- p.Val483Glu Single submitter Pendred syndrome ⚠
- p.Val488Glu Single submitter ⚠
- p.Val510Phe Single submitter ⚠
- p.Val545Gly Single submitter ⚠
- p.Val64Met Single submitter autosomal recessive nonsyndromic hearing loss 4 ⚠
- p.Val650Ile Single submitter Pendred syndrome ⚠
- p.Val653Ala Single submitter Pendred syndrome ⚠
- p.Val653Leu Single submitter Pendred syndrome ⚠
- p.Val678= Single submitter Pendred syndrome
- p.Val688Met Single submitter ⚠
- p.Val97Leu Single submitter ⚠