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Gene entry

GJB2

gap junction protein beta 2

Chromosome
13
Cytoband
13q12.11
Variants (rsID)
63

GJB2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q12.11). Its official name is “gap junction protein beta 2”. The reference table lists 63 variants (rsID) for this gene.

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Clinically classified variants

61 reference-table entries with clinical significance.

  • rs2274083Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A
  • rs2274084Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss|Ichthyosis, hystrix-like, with hearing loss
  • rs76838169Benignsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A
  • rs111033222Conflicting interpretationssingle nucleotide variantIchthyosis, hystrix-like, with hearing loss|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A
  • rs111033327Conflicting interpretationssingle nucleotide variantIchthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss
  • rs111033360Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A
  • rs150529554Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|Ichthyosis, hystrix-like, with hearing loss|Hearing loss|Sensorineural hearing loss disorder
  • rs34988750Conflicting interpretationssingle nucleotide variantIchthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic Deafness|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • rs376898963Conflicting interpretationssingle nucleotide variantIchthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A
  • rs561870637Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A
  • rs76434661Conflicting interpretationssingle nucleotide variantRare genetic deafness|Hearing impairment|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|8 conditions|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Ichthyosis, hystrix-like, with hearing loss|Autosomal recessive nonsyndromic hearing loss 1A
  • rs779018464Conflicting interpretationssingle nucleotide variantRare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A
  • rs80338945Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|8 conditions|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Nonsyndromic genetic hearing loss|Mutilating keratoderma|Deafness|See cases
  • rs80338949Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Hearing impairment|Autosomal dominant nonsyndromic hearing loss 3A
  • rs80338950Conflicting interpretationssingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Hearing loss|8 conditions|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss
  • rs111033296Likely pathogenicsingle nucleotide variantRare genetic deafness
  • rs111033361Likely pathogenicsingle nucleotide variantNonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A
  • rs786204597Likely pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A
  • rs104894395Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness
  • rs104894396Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|8 conditions|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Hearing loss, autosomal recessive|Mutilating keratoderma
  • rs104894397Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Hearing impairment
  • rs104894398Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Hearing loss|Nonsyndromic genetic hearing loss
  • rs104894401Pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A
  • rs104894402Pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A|Rare genetic deafness|Hearing loss, autosomal recessive|Hereditary palmoplantar keratoderma|Nonsyndromic genetic hearing loss|Palmoplantar keratoderma-deafness syndrome
  • rs104894404Pathogenicsingle nucleotide variantPalmoplantar keratoderma-deafness syndrome
  • rs104894407Pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A
  • rs104894408Pathogenicsingle nucleotide variantAutosomal dominant keratitis-ichthyosis-hearing loss syndrome
  • rs104894409Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Nonsyndromic genetic hearing loss
  • rs104894413Pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A
  • rs111033190Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal dominant nonsyndromic hearing loss 3A|nonsyndromic sensorineural hearing loss
  • rs111033204PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A
  • rs111033217Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness
  • rs111033253PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Hearing loss|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Nonsyndromic genetic hearing loss
  • rs111033293Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|8 conditions
  • rs111033294Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Nonsyndromic genetic hearing loss
  • rs111033295Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Hearing loss
  • rs111033297Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A|Hearing loss
  • rs111033299Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 1A
  • rs111033401Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 1A
  • rs111033420Pathogenicsingle nucleotide variantRare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A
  • rs111033451Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Inborn genetic diseases
  • rs143343083Pathogenicsingle nucleotide variantHearing impairment|Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Hearing loss|nonsyndromic sensorineural hearing loss
  • rs1801002Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 1A
  • rs28931593Pathogenicsingle nucleotide variantPalmoplantar keratoderma-deafness syndrome|Autosomal dominant nonsyndromic hearing loss 3A|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1A|Hereditary palmoplantar keratoderma|Nonsyndromic genetic hearing loss|Hearing loss, autosomal recessive
  • rs28931595Pathogenicsingle nucleotide variantAutosomal dominant nonsyndromic hearing loss 3A
  • rs371024165Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness
  • rs397516874Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Hearing loss
  • rs587783646PathogenicMicrosatelliteHearing impairment|Autosomal recessive nonsyndromic hearing loss 1A
  • rs587783647PathogenicDeletionHearing impairment|Autosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Inborn genetic diseases
  • rs72474224Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Nonsyndromic genetic hearing loss|8 conditions|Rare genetic deafness|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Nonsyndromic Deafness|See cases|Autosomal recessive nonsyndromic hearing loss 1A
  • rs786204690Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A
  • rs80338939PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 1A|Deafness, digenic, GJB2/GJB6|Hearing impairment|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Hearing impairment|Bilateral sensorineural hearing impairment|Severe sensorineural hearing impairment|Hearing impairment|Bilateral conductive hearing impairment|Bilateral sensorineural hearing impairment|7 conditions|Deafness|Nonsyndromic Hearing Loss, Recessive|Inborn genetic diseases|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Hearing loss, autosomal recessive|Knuckle pads, deafness AND leukonychia syndrome|Mutilating keratoderma|Ear malformation
  • rs80338940Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Hearing loss|8 conditions|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Nonsyndromic genetic hearing loss|Hearing loss, autosomal recessive|Ear malformation|Autosomal recessive nonsyndromic hearing loss 1A
  • rs80338942PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Nonsyndromic genetic hearing loss|Mutilating keratoderma|GJB2-Related Disorders|Nonsyndromic Hearing Loss, Dominant|Keratitis ichthyosis and deafness syndrome|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|7 conditions|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|See cases
  • rs80338943PathogenicDeletionAutosomal recessive nonsyndromic hearing loss 1A|Deafness, digenic, GJB2/GJB3|Hearing impairment|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A|Hearing loss|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 1B|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1A
  • rs80338944Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Rare genetic deafness|8 conditions|Autosomal recessive nonsyndromic hearing loss 1A|Autosomal recessive nonsyndromic hearing loss 1B|Hearing loss, autosomal recessive|Autosomal recessive nonsyndromic hearing loss 1A
  • rs80338947PathogenicMicrosatelliteAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|Hearing loss|Nonsyndromic genetic hearing loss
  • rs80338948Pathogenicsingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Hearing impairment|Rare genetic deafness|8 conditions|Hearing loss|7 conditions|Nonsyndromic genetic hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Autosomal recessive nonsyndromic hearing loss 1A
  • rs111033441Uncertain significancesingle nucleotide variant
  • rs116769964Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A
  • rs80338946Uncertain significancesingle nucleotide variantAutosomal recessive nonsyndromic hearing loss 1A|Ichthyosis, hystrix-like, with hearing loss|Autosomal dominant nonsyndromic hearing loss 3A|Nonsyndromic genetic hearing loss|Autosomal recessive nonsyndromic hearing loss 1A

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.