ClinVar for Gene (Select 2705) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AWAT1, AWAT2 +55 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3233941	NM_000166.6(GJB1):c.247C>G (p.Leu83Val)	GJB1 (L83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099970	NM_000166.6(GJB1):c.304G>C (p.Glu102Gln)	GJB1 (E102Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3049465	NM_000166.6(GJB1):c.-109C>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	GJB1-related disorder	GLikely benign
Select item 3033332	NM_000166.6(GJB1):c.-16-4G>T	GJB1	Single nucleotide variant (intron variant)	GJB1-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CMC4, CNGA2 +488 more	Copy number gain	not provided	GPathogenic
Select item 3009210	NM_000166.6(GJB1):c.759T>C (p.Ser253=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3007506	NM_000166.6(GJB1):c.201A>G (p.Gln67=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 3000861	NM_000166.6(GJB1):c.762G>A (p.Glu254=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2979140	NM_000166.6(GJB1):c.675C>T (p.Ser225=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2972995	NM_000166.6(GJB1):c.185G>C (p.Ser62Thr)	GJB1 (S62T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2897554	NM_000166.6(GJB1):c.430T>C (p.Leu144=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2892184	NM_000166.6(GJB1):c.711C>T (p.His237=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2886719	NM_000166.6(GJB1):c.825A>G (p.Glu275=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2886332	NM_000166.6(GJB1):c.309G>A (p.Lys103=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2884353	NM_000166.6(GJB1):c.804C>T (p.Gly268=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2863019	NM_000166.6(GJB1):c.198C>G (p.Asp66Glu)	GJB1 (D66E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2857643	NM_000166.6(GJB1):c.-16-35_264del	GJB1	Deletion (splice acceptor variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2850192	NM_000166.6(GJB1):c.668_675del (p.Arg223fs)	GJB1 (R223fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2850100	NM_000166.6(GJB1):c.231G>T (p.Trp77Cys)	GJB1 (W77C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2850096	NM_000166.6(GJB1):c.816G>A (p.Gly272=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2847429	NM_000166.6(GJB1):c.345dup (p.His116fs)	GJB1 (H116fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2846944	NM_000166.6(GJB1):c.216C>G (p.Ser72=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2845409	NM_000166.6(GJB1):c.131G>A (p.Trp44Ter)	GJB1 (W44*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2845358	NM_000166.6(GJB1):c.115G>A (p.Ala39Thr)	GJB1 (A39T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2842394	NM_000166.6(GJB1):c.316C>G (p.Leu106Val)	GJB1 (L106V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2836792	NM_000166.6(GJB1):c.369C>A (p.His123Gln)	GJB1 (H123Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2832418	NM_000166.6(GJB1):c.699G>C (p.Ser233=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2832061	NM_000166.6(GJB1):c.579C>T (p.Phe193=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2830135	NM_000166.6(GJB1):c.110T>A (p.Val37Glu)	GJB1 (V37E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2829786	NM_000166.6(GJB1):c.566T>C (p.Val189Ala)	GJB1 (V189A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2825483	NM_000166.6(GJB1):c.402C>G (p.Thr134=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2815377	NM_000166.6(GJB1):c.206T>G (p.Phe69Cys)	GJB1 (F69C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2812182	NM_000166.6(GJB1):c.269T>G (p.Leu90Arg)	GJB1 (L90R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2808940	NM_000166.6(GJB1):c.158G>T (p.Cys53Phe)	GJB1 (C53F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2806743	NM_000166.6(GJB1):c.423C>T (p.Phe141=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2798186	NM_000166.6(GJB1):c.371_377delinsTCTTCACCT (p.Lys124fs)	GJB1 (K124fs)	Indel (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2784367	NM_000166.6(GJB1):c.642C>T (p.Ile214=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2773180	NM_000166.6(GJB1):c.227dup (p.Trp77fs)	GJB1 (W77fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2772907	NM_000166.6(GJB1):c.-17+2T>G	GJB1	Single nucleotide variant (intron variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2772502	NM_000166.6(GJB1):c.580A>C (p.Met194Leu)	GJB1 (M194L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2771172	NM_000166.6(GJB1):c.435del (p.Phe145fs)	GJB1 (F145fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2769163	NM_000166.6(GJB1):c.327G>A (p.Glu109=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2767686	NM_000166.6(GJB1):c.837C>G (p.Arg279=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2765620	NM_000166.6(GJB1):c.593C>G (p.Ser198Cys)	GJB1 (S198C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2755104	NM_000166.6(GJB1):c.197A>G (p.Asp66Gly)	GJB1 (D66G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2754913	NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)	GJB1 (F153fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2751218	NM_000166.6(GJB1):c.56C>A (p.Ala19Asp)	GJB1 (A19D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2751102	NM_000166.6(GJB1):c.244A>C (p.Ile82Leu)	GJB1 (I82L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2737257	NM_000166.6(GJB1):c.212T>C (p.Ile71Thr)	GJB1 (I71T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GLikely pathogenic
Select item 2735214	NM_000166.6(GJB1):c.134dup (p.Gly45_Asp46insTer)	GJB1	Duplication (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2729875	NM_000166.6(GJB1):c.702C>T (p.Gly234=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2728478	NM_000166.6(GJB1):c.302T>C (p.Ile101Thr)	GJB1 (I101T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2721946	NM_000166.6(GJB1):c.405T>C (p.Tyr135=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2710022	NM_000166.6(GJB1):c.655_670del (p.Arg219fs)	GJB1 (R219fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2707384	NM_000166.6(GJB1):c.183C>G (p.Asn61Lys)	GJB1 (N61K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2706812	NM_000166.6(GJB1):c.811G>T (p.Ala271Ser)	GJB1 (A271S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2703756	NM_000166.6(GJB1):c.564C>G (p.Thr188=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2702792	NM_000166.6(GJB1):c.572C>A (p.Thr191Asn)	GJB1 (T191N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2699888	NM_000166.6(GJB1):c.450del (p.Met150fs)	GJB1 (M150fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic
Select item 2692991	NM_000166.6(GJB1):c.507del (p.Asp169fs)	GJB1 (D169fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2692953	NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)	GJB1 (K104*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2664450	NM_000166.6(GJB1):c.851G>C (p.Ter284Ser)	GJB1	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 2664449	NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)	GJB1	Single nucleotide variant (stop lost)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 2664352	NM_000166.6(GJB1):c.272T>C (p.Val91Ala)	GJB1 (V91A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	KIF4A, LOC130068402 +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660859	NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)	GJB1 (A147S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627666	NM_000166.6(GJB1):c.455T>C (p.Val152Ala)	GJB1 (V152A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2579113	GRCh37/hg19 Xq13.1(chrX:70373327-70524150)x2	GJB1, ITGB1BP2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2575088	NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)	GJB1 (I137fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2444061	NM_000166.6(GJB1):c.272T>A (p.Val91Glu)	GJB1 (V91E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 2431056	NM_000166.6(GJB1):c.1A>G (p.Met1Val)	GJB1 (M1V)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 2431055	NM_000166.6(GJB1):c.48T>C (p.His16=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2431054	NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)	GJB1 (I20F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2431053	NM_000166.6(GJB1):c.57C>T (p.Ala19=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2431052	NM_000166.6(GJB1):c.88A>T (p.Ile30Phe)	GJB1 (I30F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2431051	NM_000166.6(GJB1):c.90C>G (p.Ile30Met)	GJB1 (I30M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2431050	NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)	GJB1 (R32K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 2429345	NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)	GJB1 (F193L)	Single nucleotide variant (missense variant)	Peripheral neuropathy	GLikely pathogenic
Select item 2425299	NC_000023.10:g.(?_69748945)_(70644108_?)dup	CXorf65, FOXO4 +11 more	Duplication	FG syndrome 1	GUncertain significance
Select item 2422586	NC_000023.10:g.(?_70327586)_(70683896_?)dup	GJB1, IL2RG +6 more	Duplication	X-linked severe combined immunodeficiency	GUncertain significance
Select item 2422503	NC_000023.10:g.(?_70443558)_(70444409_?)del	GJB1	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2415866	NM_000166.6(GJB1):c.148T>G (p.Ser50Ala)	GJB1 (S50A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2195807	NM_000166.6(GJB1):c.54T>C (p.Thr18=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2187930	NM_000166.6(GJB1):c.625G>T (p.Val209Leu)	GJB1 (V209L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2159559	NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)	GJB1 (D46N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GConflicting classifications of pathogenicity
Select item 2157603	NM_000166.6(GJB1):c.228G>A (p.Leu76=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2156422	NM_000166.6(GJB1):c.791G>A (p.Arg264His)	GJB1 (R264H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 2156335	NM_000166.6(GJB1):c.803G>C (p.Gly268Ala)	GJB1 (G268A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2148448	NM_000166.6(GJB1):c.480T>C (p.Tyr160=)	GJB1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth Neuropathy X	GLikely benign
Select item 2138609	NM_000166.6(GJB1):c.554C>T (p.Thr185Ile)	GJB1 (T185I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2138607	NM_000166.6(GJB1):c.526A>C (p.Thr176Pro)	GJB1 (T176P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2138606	NM_000166.6(GJB1):c.412A>G (p.Ser138Gly)	GJB1 (S138G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2138605	NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)	GJB1 (N2S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2138604	NM_000166.6(GJB1):c.3G>C (p.Met1Ile)	GJB1 (M1I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2138603	NM_000166.6(GJB1):c.-16-1G>A	GJB1	Single nucleotide variant (splice acceptor variant)	Charcot-Marie-Tooth Neuropathy X	GUncertain significance

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