Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation 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: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss. 19615760

2011

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation BEFREE A single Pendred syndrome (PDS) gene mutation, L445W, was found. 20822748

2011

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Two missense mutations in SLC26A4 gene: a molecular and functional study. 20128824

2010

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 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: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 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: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. 18813951

2009

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation BEFREE This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W. 18285825

2008

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 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: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. 16773579

2006

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation 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

2006

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. 16570074

2006

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. 15355436

2005

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. 11748854

2002

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. 10874637

2000

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation. 10602116

2000

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Two frequent missense mutations in Pendred syndrome. 9618166

1999

dbSNP: rs111033307
rs111033307
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation UNIPROT

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations. 24007330

2015

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR Salicylate restores transport function and anion exchanger activity of missense pendrin mutations. 20826203

2011

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 GeneticVariation BEFREE 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

2011

dbSNP: rs121908362
rs121908362
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome
0.820 CausalMutation CLINVAR A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification. 20583162

2010