| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Bioinformatic Analysis of GJB2 Gene Missense Mutations. | 25388846 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. | 22613756 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss. | 20863150 | 2011 |
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|
T | 0.700 | CausalMutation | CLINVAR | M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance. | 17935238 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Detection of mutations in genes associated with hearing loss using a microarray-based approach. | 16931589 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | GJB2 mutations: passage through Iran. | 15666300 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. | 15617550 | 2005 |
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|
T | 0.700 | CausalMutation | CLINVAR | GJB2: the spectrum of deafness-causing allele variants and their phenotype. | 15365987 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Molecular epidemiology of DFNB1 deafness in France. | 15070423 | 2004 |
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|
T | 0.700 | CausalMutation | CLINVAR | Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. | 11584050 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. | 11493200 | 2001 |