Table 3.

GJB2 Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_004004​.6
NP_003995​.2 		c.35delGp.Gly12ValfsTer2Common pathogenic variant; carrier frequency of 2%-4% in persons of northern European descent [Snoeckx et al 2005]
c.109G>Ap.Val37IleSee Genotype-Phenotype Correlations.
c.235delCp.Leu79CysfsTer3Reported in mosaic state in person w/maternal UPD [Lin et al 2021]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss

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