Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. | 9856479 | 1998 |
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|
A | 0.800 | CausalMutation | CLINVAR | De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. | 11354642 | 2001 |
|||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. | 18472371 | 2008 |
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|
T | 0.700 | CausalMutation | CLINVAR | Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment. | 24774219 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. | 17660464 | 2007 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients. | 23668481 | 2013 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
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 | 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 | Bioinformatic Analysis of GJB2 Gene Missense Mutations. | 25388846 | 2015 |
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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 | GJB2: the spectrum of deafness-causing allele variants and their phenotype. | 15365987 | 2004 |