Gene: SLC26A4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population. 16460646

2006
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts. 23965030

2013
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey. 12974744

2003
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. 12676893

2003
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. 23336812

2013
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: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR SLC26A4 mutations in patients with moderate to severe hearing loss. 23504402

2013
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 GeneticVariation CLINVAR Functional characterization of pendrin mutations found in the Israeli and Palestinian populations. 22116360

2011
dbSNP: rs111033256
rs111033256
SLC26A4
A 0.810 CausalMutation CLINVAR

dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1998
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. 19578036

2009
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: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. 11317356

2001
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Molecular and functional characterization of human pendrin and its allelic variants. 22116358

2011
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 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations. 14679580

2004
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study. 24599119

2014
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. 15689455

2005
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 Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. 14508505

2003
dbSNP: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Pathogenetics of the human SLC26 transporters. 15720248

2005
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: rs111033257
rs111033257
SLC26A4
A 0.810 GeneticVariation CLINVAR Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up. 16950989

2006
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: rs111033305
rs111033305
SLC26A4
A 0.800 CausalMutation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2004