rs80338939

rs80338939 is a genetic variant located in the GJB2 gene. dbsnp · gene

In gnomAD, rs80338939 has an overall allele frequency of 0.79%. gnomad · frequency

In ClinVar, rs80338939 is classified as Pathogenic for Nonsyndromic genetic hearing loss (3 review stars, germline; last evaluated 2018-09-20). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A) (2 review stars, biparental; last evaluated 2025-03-25). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Hearing loss, autosomal recessive (2 review stars, germline; last evaluated 2024-11-08). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for GJB2-related disorder (2 review stars, germline; last evaluated 2024-09-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal dominant nonsyndromic hearing loss 3A (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal recessive nonsyndromic hearing loss 1A (DFNB1A) (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Mutilating keratoderma (VOWNKL) (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Ichthyosis, hystrix-like, with hearing loss (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal dominant keratitis-ichthyosis-hearing loss syndrome (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Palmoplantar keratoderma-deafness syndrome (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Knuckle pads, deafness AND leukonychia syndrome (2 review stars, germline; last evaluated 2024-06-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Hearing impairment (2 review stars, maternal; last evaluated 2021-04-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Hereditary palmoplantar keratoderma (1 review star, germline; last evaluated 2024-10-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Inborn genetic diseases (1 review star, germline; last evaluated 2022-12-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Rare genetic deafness (1 review star, germline; last evaluated 2022-06-23). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Deafness (1 review star, germline; last evaluated 2021-09-02). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Ear malformation (1 review star, germline; last evaluated 2021-07-10). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Hearing impairment (1 review star; last evaluated 2015-01-13). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Bilateral conductive hearing impairment (1 review star; last evaluated 2015-01-13). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Bilateral sensorineural hearing impairment (1 review star; last evaluated 2014-10-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal recessive nonsyndromic hearing loss 1B (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs80338939 is classified as Pathogenic for Autosomal recessive nonsyndromic hearing loss 104 (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs80338939 is classified as Pathogenic for Hearing loss (0 review stars, germline; last evaluated 2017-02-22). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Severe sensorineural hearing impairment (0 review stars; last evaluated 2016-01-04). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for Deafness, digenic, GJB2/GJB6 (0 review stars, germline; last evaluated 2012-10-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs80338939 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date