"GeneDx"[submitter] AND "GJB2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 146055	GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	GJA3, GJB2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 311355	NM_004004.6(GJB2):c.*1197T>A	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 311356	NM_004004.6(GJB2):c.*1152G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign
Select item 311357	NM_004004.6(GJB2):c.*1067G>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311361	NM_004004.6(GJB2):c.*931C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311369	NM_004004.6(GJB2):c.*168A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +8 more	GBenign
Select item 311371	NM_004004.6(GJB2):c.*104A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 36277	NM_004004.6(GJB2):c.*84T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 44716	NM_004004.6(GJB2):c.*3C>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	not specified +9 more	GUncertain significance
Select item 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GUncertain significance
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	GJB2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Mutilating keratoderma +12 more	GPathogenic/Likely pathogenic
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GBenign
Select item 44761	NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG	GJB2	Indel	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related disorder +9 more	GPathogenic/Likely pathogenic
Select item 644162	NM_004004.6(GJB2):c.576del (p.Val193fs)	GJB2 (V193fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss +9 more	GPathogenic/Likely pathogenic
Select item 44760	NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)	GJB2 (F191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance FDA Recognized database
Select item 3252256	NM_004004.6(GJB2):c.566C>G (p.Thr189Ser)	GJB2 (T189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 429984	NM_004004.6(GJB2):c.563A>G (p.Lys188Arg)	GJB2 (K188R)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 560670	NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)	GJB2 (E187G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 29662	NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	GJB2 (R184Q)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 17007	NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	GJB2 (R184P)	Single nucleotide variant (missense variant)	Rare genetic deafness +10 more	GConflicting classifications of pathogenicity
Select item 560669	NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	GJB2 (R184W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 2429675	NM_004004.6(GJB2):c.548C>T (p.Ser183Phe)	GJB2 (S183F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 550961	NM_004004.6(GJB2):c.533T>C (p.Val178Ala)	GJB2 (V178A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1802030	NM_004004.6(GJB2):c.528C>A (p.Asn176Lys)	GJB2 (N176K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189070	NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	GJB2 (A171fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 265481	NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	GJB2 (C169Y)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma-deafness syndrome +9 more	GPathogenic
Select item 44756	NM_004004.6(GJB2):c.503A>G (p.Lys168Arg)	GJB2 (K168R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1339621	NM_004004.6(GJB2):c.500T>C (p.Val167Ala)	GJB2 (V167A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 44757	NM_004004.6(GJB2):c.499G>A (p.Val167Met)	GJB2 (V167M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 177736	NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)	GJB2 (R165W)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 1208558	NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)	GJB2 (Q164E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449488	NM_004004.6(GJB2):c.488T>C (p.Met163Thr)	GJB2 (M163T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 21388	NM_004004.6(GJB2):c.487A>G (p.Met163Val)	GJB2 (M163V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GConflicting classifications of pathogenicity
Select item 44755	NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	GJB2 (G160S)	Single nucleotide variant (missense variant)	Nonsyndromic Deafness +7 more	GConflicting classifications of pathogenicity
Select item 17024	NM_004004.6(GJB2):c.476A>T (p.Asp159Val)	GJB2 (D159V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +9 more	GUncertain significance
Select item 438618	NM_004004.6(GJB2):c.475G>A (p.Asp159Asn)	GJB2 (D159N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 195205	NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)	GJB2 (Y155*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GPathogenic
Select item 1691185	NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys)	GJB2 (Y155C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GUncertain significance
Select item 44754	NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	GJB2 (V153I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 44753	NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)	GJB2 (Y152*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 1407567	NM_004004.6(GJB2):c.453G>A (p.Met151Ile)	GJB2 (M151I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44751	NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)	GJB2 (A149T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1312591	NM_004004.6(GJB2):c.440A>G (p.Glu147Gly)	GJB2 (E147G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 371709	NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	GJB2 (E147K)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 17017	NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)	GJB2 (R143Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17009	NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	GJB2 (R143W)	Single nucleotide variant (missense variant)	Rare genetic deafness +11 more	GPathogenic
Select item 496220	NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)	GJB2 (F142S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44749	NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	GJB2 (S139N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 1313785	NM_004004.6(GJB2):c.410C>G (p.Thr137Arg)	GJB2 (T137R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189092	NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter)	GJB2 (Y136*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GPathogenic/Likely pathogenic
Select item 225223	NM_004004.6(GJB2):c.385G>T (p.Glu129Ter)	GJB2 (E129*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +1 more	GPathogenic/Likely pathogenic
Select item 44747	NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)	GJB2 (E129K)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 195204	NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)	GJB2 (R127L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44745	NM_004004.6(GJB2):c.380G>A (p.Arg127His)	GJB2 (R127H)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 163514	NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	GJB2 (R127C)	Single nucleotide variant (missense variant)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 44744	NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	GJB2 (Q124*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 44743	NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)	GJB2 (T123N)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +9 more	GBenign/Likely benign
Select item 44742	NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	GJB2 (K122I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 17006	NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	GJB2 (E120del)	Microsatellite (inframe_deletion)	Rare genetic deafness +11 more	GPathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44739	NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	GJB2 (E114G)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GBenign/Likely benign
Select item 1328920	NM_004004.6(GJB2):c.340G>A (p.Glu114Lys)	GJB2 (E114K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 189051	NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	GJB2 (K112fs)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 3A +10 more	GPathogenic/Likely pathogenic
Select item 553587	NM_004004.6(GJB2):c.331A>G (p.Ile111Val)	GJB2 (I111V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 1064972	NM_004004.6(GJB2):c.326G>A (p.Gly109Glu)	GJB2 (G109E)	Single nucleotide variant (missense variant)	Hearing impairment +10 more	GUncertain significance
Select item 975154	NM_004004.6(GJB2):c.326G>T (p.Gly109Val)	GJB2 (G109V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 44737	NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	GJB2 (K105fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GPathogenic/Likely pathogenic
Select item 2302594	NM_004004.6(GJB2):c.308A>T (p.Lys103Met)	GJB2 (K103M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1305927	NM_004004.6(GJB2):c.308A>G (p.Lys103Arg)	GJB2 (K103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44736	NM_004004.6(GJB2):c.299_300del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	Mutilating keratoderma +10 more	GPathogenic
Select item 496218	NM_004004.6(GJB2):c.298del (p.His100fs)	GJB2 (H100fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 158607	NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	GJB2 (H100Y)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 188821	NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	GJB2 (Y97*)	Duplication (nonsense)	Autosomal dominant nonsyndromic hearing loss 3A +9 more	GPathogenic
Select item 44735	NM_004004.6(GJB2):c.283G>A (p.Val95Met)	GJB2 (V95M)	Single nucleotide variant (missense variant)	Mutilating keratoderma +11 more	GPathogenic/Likely pathogenic
Select item 666834	NM_004004.6(GJB2):c.280C>T (p.His94Tyr)	GJB2 (H94Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44733	NM_004004.6(GJB2):c.279G>A (p.Met93Ile)	GJB2 (M93I)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GPathogenic/Likely pathogenic
Select item 177737	NM_004004.6(GJB2):c.269dup (p.Val91fs)	GJB2 (V91fs)	Duplication	Rare genetic deafness +11 more	GPathogenic
Select item 17016	NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	GJB2 (L90P)	Single nucleotide variant (missense variant)	Rare genetic deafness +14 more	GPathogenic
Select item 167134	NM_004004.6(GJB2):c.250G>T (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic
Select item 17036	NM_004004.6(GJB2):c.250G>A (p.Val84Met)	GJB2 (V84M)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 17032	NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	GJB2 (V84L)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 44732	NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)	GJB2 (F83L)	Single nucleotide variant (missense variant)	Mutilating keratoderma +10 more	GBenign/Likely benign
Select item 188756	NM_004004.6(GJB2):c.246C>G (p.Ile82Met)	GJB2 (I82M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 177735	NM_004004.6(GJB2):c.239A>C (p.Gln80Pro)	GJB2 (Q80P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GPathogenic/Likely pathogenic
Select item 371685	NM_004004.6(GJB2):c.238C>T (p.Gln80Ter)	GJB2 (Q80*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 17014	NM_004004.6(GJB2):c.235del (p.Leu79fs)	GJB2 (L79fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 553568	NM_004004.6(GJB2):c.232dup (p.Ala78fs)	GJB2 (A78fs)	Duplication (frameshift variant)	Nonsyndromic genetic hearing loss +2 more	GPathogenic/Likely pathogenic
Select item 17001	NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	GJB2 (W77*)	Single nucleotide variant (nonsense)	Rare genetic deafness +10 more	GPathogenic
Select item 17003	NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	GJB2 (W77R)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic
Select item 44731	NM_004004.6(GJB2):c.227T>C (p.Leu76Pro)	GJB2 (L76P)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database

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