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GJB2 Variant Interpreter

GJB2 (Connexin 26) Variant Interpreter

Most common genetic cause of ARNSHL. Enter the two GJB2 allele results from the laboratory report. Common variants: c.35delG, c.167delT, c.235delC, c.71G>A, p.V37I.

Allele 1 (from laboratory report)

Allele 2 (from laboratory report)

Common GJB2 Pathogenic Variants

c.35delGc.167delTc.235delCc.71G>A (p.W24X)c.109G>A (p.V37I — reduced pen.)

Guidelines & Evidence

Verified

Last Review: 2026

When to Use

When to Use

Interpreting GJB2 (Connexin 26, CX26) variant results in patients with sensorineural hearing loss (SNHL).

Most common genetic cause of ARNSHL (Autosomal Recessive Non-Syndromic Hearing Loss) — accounts for ~50% of inherited SNHL in European and Jewish Ashkenazi populations.

Newborn hearing screening follow-up — after ABR/OAE failure, GJB2 is first-tier genetic test.

Critical for cochlear implant candidacy assessment — GJB2-related SNHL has excellent CI outcomes.

Last Comprehensive Review: 2026