Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.800 | GeneticVariation | CLINVAR | Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province. | 30693673 | 2019 |
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A | 0.800 | GeneticVariation | CLINVAR | A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss. | 30077349 | 2019 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. | 30760291 | 2019 |
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T | 0.800 | GeneticVariation | CLINVAR | Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct. | 30086623 | 2019 |
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|
C | 0.800 | GeneticVariation | CLINVAR | Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs. | 30484383 | 2019 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. | 30622556 | 2018 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients. | 29048421 | 2018 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. | 29546359 | 2018 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Genetics of hearing loss in the Arab population of Northern Israel. | 30139988 | 2018 |
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|
C | 0.800 | GeneticVariation | CLINVAR | Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. | 29739340 | 2018 |
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C | 0.800 | GeneticVariation | CLINVAR | High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. | 30240412 | 2018 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |
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T | 0.800 | GeneticVariation | CLINVAR | [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome]. | 28604962 | 2017 |
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|
T | 0.800 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
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|
T | 0.800 | GeneticVariation | CLINVAR | A frequent oligogenic involvement in congenital hypothyroidism. | 28444304 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
T | 0.800 | GeneticVariation | CLINVAR | [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. | 29372807 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |
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|
A | 0.800 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
|||
|
0.800 | GeneticVariation | UNIPROT | Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. | 28281779 | 2017 |
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|
G | 0.800 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |