Gene: SLC26A4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.810 GeneticVariation CLINVAR Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients. 23273637

2013
dbSNP: rs28939086
rs28939086
SLC26A4
C 0.810 CausalMutation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 22384008

2012
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Life-threatening metabolic alkalosis in Pendred syndrome. 21551164

2011
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. 22116360

2011
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Molecular and functional characterization of human pendrin and its allelic variants. 22116358

2011
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900

2010
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. 20826203

2010
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.810 GeneticVariation CLINVAR Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). 20597900

2010
dbSNP: rs121908363
rs121908363
SLC26A4
T 0.810 CausalMutation CLINVAR Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene. 20826203

2010
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs111033199
rs111033199
SLC26A4
C 0.810 GeneticVariation CLINVAR Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. 19645628

2009
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis. 19287372

2009
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? 19204907

2009
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts. 19620588

2009
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 19578036

2009
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. 18285825

2008
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA. 19017801

2008
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761

2008
dbSNP: rs111033348
rs111033348
SLC26A4
T 0.810 GeneticVariation CLINVAR Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies. 17940114

2008
dbSNP: rs28939086
rs28939086
SLC26A4
C 0.810 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs80338848
rs80338848
SLC26A4
C 0.810 CausalMutation CLINVAR Heterogeneity in the processing defect of SLC26A4 mutants. 18310264

2008
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). 17503324

2007
dbSNP: rs121908363
rs121908363
SLC26A4
T 0.810 CausalMutation CLINVAR Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations. 17851929

2007
dbSNP: rs111033199
rs111033199
SLC26A4
T 0.810 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006