Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 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: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum. 24612839

2014
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China. 23918157

2013
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss. 23638949

2013
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China. 24341454

2013
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling. 23151025

2012
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. 22384008

2012
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct. 21961810

2011
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China. 19744334

2009
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. 19645628

2009
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. 19040761

2008
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects. 18274916

2008
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. 17718863

2007
dbSNP: rs200455203
rs200455203
SLC26A4
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		C 0.700 GeneticVariation CLINVAR Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum. 17443271

2007