ClinVar for Gene (Select 2706) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366819	NM_004004.6(GJB2):c.494G>T (p.Arg165Leu)	GJB2 (R165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3359611	NM_004004.6(GJB2):c.523C>G (p.Pro175Ala)	GJB2 (P175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350187	NM_004004.6(GJB2):c.-27C>T	GJB2	Single nucleotide variant (5 prime UTR variant)	GJB2-related disorder	GLikely benign
Select item 3340787	NM_004004.6(GJB2):c.16C>A (p.Leu6Met)	GJB2 (L6M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339772	NM_004004.6(GJB2):c.167T>C (p.Leu56Pro)	GJB2 (L56P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339545	NM_004004.6(GJB2):c.278T>G (p.Met93Arg)	GJB2 (M93R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339152	NM_004004.6(GJB2):c.219C>A (p.His73Gln)	GJB2 (H73Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338645	NM_004004.6(GJB2):c.[101T>C;550C>T]	GJB2 (M34T +1 more)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 3256609	NM_004004.6(GJB2):c.524C>A (p.Pro175His)	GJB2 (P175H)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A	Gnot provided
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 3251915	NM_004004.6(GJB2):c.292C>G (p.Arg98Gly)	GJB2 (R98G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251914	NM_004004.6(GJB2):c.676G>A (p.Val226Ile)	GJB2 (V226I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244228	NC_000013.10:g.(?_20716120)_(21219117_?)dup	CRYL1, GJA3 +3 more	Duplication	not provided	GUncertain significance
Select item 3244214	NC_000013.10:g.(?_20762215)_(20763473_?)del	GJB2	Deletion	not provided	GPathogenic
Select item 3244213	NC_000013.10:g.(?_20763040)_(21099933_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3233602	NM_004004.6(GJB2):c.56_57delinsTT (p.Ser19Ile)	GJB2 (S19I)	Indel (missense variant)	not specified	GUncertain significance
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	CDX2, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
Select item 3069173	NM_004004.6(GJB2):c.248_*825del (p.Phe83fs)	GJB2 (F83fs)	Deletion (frameshift variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 3032755	NC_000013.11:g.20193014G>A	GJB2	Single nucleotide variant	GJB2-related disorder	GLikely benign
Select item 2994400	NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)	GJB2 (I203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979737	NM_004004.6(GJB2):c.187G>C (p.Val63Leu)	GJB2 (V63L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2910326	NM_004004.6(GJB2):c.178T>G (p.Cys60Gly)	GJB2 (C60G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2907437	NM_004004.6(GJB2):c.353_356dup (p.Glu119fs)	GJB2 (E119fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2907321	NM_004004.6(GJB2):c.241C>T (p.Leu81=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898056	NM_004004.6(GJB2):c.-23+24_-23+32del	GJB2	Deletion (intron variant)	not provided	GLikely benign
Select item 2894871	NM_004004.6(GJB2):c.630_634del (p.Cys211fs)	GJB2 (C211fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2889029	NM_004004.6(GJB2):c.288C>T (p.Ala96=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879418	NM_004004.6(GJB2):c.567T>C (p.Thr189=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866932	NM_004004.6(GJB2):c.531T>C (p.Thr177=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859053	NM_004004.6(GJB2):c.82C>G (p.Leu28Val)	GJB2 (L28V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2855487	NM_004004.6(GJB2):c.168G>T (p.Leu56=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2853623	NM_004004.6(GJB2):c.568_571del (p.Val190fs)	GJB2 (V190fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2852415	NM_004004.6(GJB2):c.120A>G (p.Ala40=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2847634	NM_004004.6(GJB2):c.303G>A (p.Glu101=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840893	NM_004004.6(GJB2):c.267C>A (p.Leu89=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839828	NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)	GJB2 (L214R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2837331	NM_004004.6(GJB2):c.423C>T (p.Phe141=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821250	NM_004004.6(GJB2):c.342A>G (p.Glu114=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815783	NM_004004.6(GJB2):c.168G>A (p.Leu56=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812987	NM_004004.6(GJB2):c.405C>T (p.Thr135=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800857	NM_004004.6(GJB2):c.534G>C (p.Val178=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793174	NM_004004.6(GJB2):c.680A>G (p.Ter227=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790671	NM_004004.6(GJB2):c.159C>T (p.Cys53=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781659	NM_004004.6(GJB2):c.330G>A (p.Glu110=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766665	NM_004004.6(GJB2):c.612G>T (p.Leu204=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758198	NM_004004.6(GJB2):c.207C>T (p.Phe69=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2757846	NM_004004.6(GJB2):c.256A>G (p.Thr86Ala)	GJB2 (T86A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2754059	NM_004004.6(GJB2):c.371A>C (p.Gln124Pro)	GJB2 (Q124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746198	NM_004004.6(GJB2):c.252G>A (p.Val84=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744457	NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)	GJB2 (S199P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2743481	NM_004004.6(GJB2):c.570C>T (p.Val190=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742720	NM_004004.6(GJB2):c.432C>A (p.Val144=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739943	NM_004004.6(GJB2):c.89T>C (p.Ile30Thr)	GJB2 (I30T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2735996	NM_004004.6(GJB2):c.93del (p.Arg32fs)	GJB2 (R32fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735994	NM_004004.6(GJB2):c.155_158del (p.Val52fs)	GJB2 (V52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2735993	NM_004004.6(GJB2):c.345dup (p.Lys116Ter)	GJB2 (K116*)	Duplication (nonsense)	not provided	GPathogenic
Select item 2714044	NM_004004.6(GJB2):c.255C>T (p.Ser85=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2705748	NM_004004.6(GJB2):c.561G>A (p.Glu187=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699085	NM_004004.6(GJB2):c.310A>C (p.Arg104=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696302	NM_004004.6(GJB2):c.82_84del (p.Leu28del)	GJB2 (L28del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2691671	NM_004004.6(GJB2):c.557C>A (p.Thr186Lys)	GJB2 (T186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684692	GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3	GJA3, GJB2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684167	NM_004004.6(GJB2):c.-165del	GJB2	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 2643669	NM_004004.6(GJB2):c.419T>G (p.Ile140Ser)	GJB2 (I140S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643668	NM_004004.6(GJB2):c.588T>C (p.Ile196=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627188	NM_004004.6(GJB2):c.69C>T (p.Ile23=)	GJB2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2627130	NM_004004.6(GJB2):c.475G>T (p.Asp159Tyr)	GJB2 (D159Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581406	NM_004004.6(GJB2):c.191G>A (p.Cys64Tyr)	GJB2 (C64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576552	NM_004004.6(GJB2):c.200A>G (p.His67Arg)	GJB2 (H67R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +1 more	GUncertain significance
Select item 2575784	NM_004004.6(GJB2):c.8G>C (p.Trp3Ser)	GJB2 (W3S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574620	NM_004004.6(GJB2):c.206_212dup (p.Ser72fs)	GJB2 (S72fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 2506579	NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)	GJB2	Duplication (inframe_insertion)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 2506297	NM_004004.6(GJB2):c.239A>G (p.Gln80Arg)	GJB2 (Q80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432122	NM_004004.6(GJB2):c.293G>A (p.Arg98Gln)	GJB2 (R98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2429565	NM_004004.6(GJB2):c.128T>C (p.Val43Ala)	GJB2 (V43A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2424812	NC_000013.10:g.(?_20763040)_(20797619_?)dup	GJB2, GJB6	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2424811	NC_000013.10:g.(?_20797176)_(21105944_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
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 2191115	NM_004004.6(GJB2):c.318C>T (p.Phe106=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169572	NM_004004.6(GJB2):c.277A>G (p.Met93Val)	GJB2 (M93V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2155943	NM_004004.6(GJB2):c.147C>T (p.Ala49=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2152414	NM_004004.6(GJB2):c.490C>T (p.Gln164Ter)	GJB2 (Q164*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2148885	NM_004004.6(GJB2):c.41A>G (p.Asn14Ser)	GJB2 (N14S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137461	NM_004004.6(GJB2):c.98T>C (p.Ile33Thr)	GJB2 (I33T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2137460	NM_004004.6(GJB2):c.195C>A (p.Tyr65Ter)	GJB2 (Y65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2137459	NM_004004.6(GJB2):c.251T>C (p.Val84Ala)	GJB2 (V84A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137458	NM_004004.6(GJB2):c.263C>A (p.Ala88Glu)	GJB2 (A88E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137457	NM_004004.6(GJB2):c.328del (p.Glu110fs)	GJB2 (E110fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2137456	NM_004004.6(GJB2):c.421TTC[1] (p.Phe142del)	GJB2 (F142del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2137454	NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)	GJB2 (Y152*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2137453	NM_004004.6(GJB2):c.518C>G (p.Pro173Arg)	GJB2 (P173R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137452	NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)	GJB2 (C202R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2121755	NM_004004.6(GJB2):c.327G>A (p.Gly109=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115822	NM_004004.6(GJB2):c.441A>G (p.Glu147=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110335	NM_004004.6(GJB2):c.114G>A (p.Val38=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095560	NM_004004.6(GJB2):c.207C>G (p.Phe69Leu)	GJB2 (F69L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2089753	NM_004004.6(GJB2):c.576A>C (p.Thr192=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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