ClinVar for MedGen (Select 98290) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383179	NM_000166.6(GJB1):c.136G>C (p.Asp46His)	GJB1 (D46H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 3370291	NM_000166.6(GJB1):c.-17G>T	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 3341434	NM_000166.6(GJB1):c.219T>A (p.His73Gln)	GJB1 (H73Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 3340464	NM_000166.6(GJB1):c.260C>G (p.Pro87Arg)	GJB1 (P87R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
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 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 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 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 2138605	NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)	GJB1 (N2S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GUncertain significance
Select item 1958026	NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)	GJB1 (R215Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 1807289	NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)	GJB1 (Y154*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GPathogenic
Select item 1709368	NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)	GJB1 (R15P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GLikely pathogenic
Select item 1709084	NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)	GJB1 (Y7*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 1685849	NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)	GJB1 (L165Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 1685848	NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)	GJB1 (W132*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 1526261	NM_000166.6(GJB1):c.596G>A (p.Gly199Asp)	GJB1 (G199D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 1460272	NM_000166.6(GJB1):c.622del (p.Glu208fs)	GJB1 (E208fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 1357566	NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)	GJB1 (A96G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GPathogenic/Likely pathogenic
Select item 1330874	NM_000166.6(GJB1):c.287C>T (p.Ala96Val)	GJB1 (A96V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 1329876	NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)	GJB1 (A207P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 1329479	NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)	GJB1 (P174A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 1299490	NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	GJB1 (R107Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 1285575	NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)	GJB1 (A216T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 1028588	NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)	GJB1 (F235L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 1028587	NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)	GJB1 (Q98*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 976021	NM_000166.6(GJB1):c.467T>A (p.Leu156His)	GJB1 (L156H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 972701	NM_001097642.3(GJB1):c.-16-475C>G	GJB1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 915221	NM_000166.6(GJB1):c.*443G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 915220	NM_000166.6(GJB1):c.*402G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 915219	NM_000166.6(GJB1):c.*309G>A	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GBenign
Select item 915218	NM_000166.6(GJB1):c.*277A>G	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 913990	NM_000166.6(GJB1):c.*50G>C	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 913989	NM_000166.6(GJB1):c.*22C>T	GJB1	Single nucleotide variant (3 prime UTR variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 913594	NM_000166.6(GJB1):c.-102G>A	GJB1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 853830	NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	GJB1 (N14K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GLikely pathogenic
Select item 812154	NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	GJB1 (G129E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GConflicting classifications of pathogenicity
Select item 807420	NM_000166.6(GJB1):c.783_784del (p.Ile262fs)	GJB1 (I262fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 804027	NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)	GJB1 (Y157fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 726291	NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp)	SBF1 (R1283W +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B3 +2 more	GConflicting classifications of pathogenicity
Select item 696007	NM_000166.6(GJB1):c.671G>A (p.Arg224His)	GJB1 (R224H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +3 more	GBenign/Likely benign
Select item 691948	NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)	GJB1 (A40S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637944	NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)	GJB1	Duplication (inframe_insertion)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637926	NM_000166.6(GJB1):c.508G>A (p.Val170Ile)	GJB1 (V170I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 637922	NM_000166.6(GJB1):c.332_349del (p.His111_His116del)	GJB1	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637921	NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)	GJB1 (G21S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637920	NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)	GJB1 (I20N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637919	NM_000166.6(GJB1):c.761dup (p.Gln255fs)	GJB1 (Q255fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637918	NM_000166.6(GJB1):c.210dup (p.Ile71fs)	GJB1 (I71fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637883	NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)	GJB1	Deletion (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637881	NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	GJB1 (F180L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +1 more	GPathogenic/Likely pathogenic
Select item 637681	NM_000166.6(GJB1):c.424del (p.Arg142fs)	GJB1 (R142fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637680	NM_000166.6(GJB1):c.43del (p.Arg15fs)	GJB1 (R15fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637677	NM_000166.6(GJB1):c.275_276del (p.Ala92fs)	GJB1 (A92fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637676	NM_000166.6(GJB1):c.273_274del (p.Ala92fs)	GJB1 (A92fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637674	NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)	GJB1 (T86A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GUncertain significance
Select item 637673	NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)	GJB1 (R15L)	Indel (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637672	NM_000166.6(GJB1):c.484dup (p.Met162fs)	GJB1 (M162fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637664	NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)	GJB1 (W133*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 637663	NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)	GJB1 (Q99*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637659	NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)	GJB1 (E146M)	Indel (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637655	NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)	GJB1 (D46G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637654	NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)	GJB1	Deletion (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637653	NM_000166.6(GJB1):c.625GTG[1] (p.Val210del)	GJB1 (V210del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637652	NM_000166.6(GJB1):c.358_360del (p.Val120del)	GJB1 (V120del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637649	NM_000166.6(GJB1):c.474del (p.Gly159fs)	GJB1 (G159fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637646	NM_000166.6(GJB1):c.155del (p.Ile52fs)	GJB1 (I52fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637645	NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	GJB1 (S198A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637635	NM_000166.6(GJB1):c.439del (p.Ala147fs)	GJB1 (A147fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637632	NM_000166.6(GJB1):c.84del (p.Phe29fs)	GJB1 (F29fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637630	NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)	GJB1 (R183P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637621	NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)	GJB1 (I214N)	Indel (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637620	NM_000166.6(GJB1):c.454del (p.Val152fs)	GJB1 (V152fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 637619	NM_000166.6(GJB1):c.77del (p.Ser26fs)	GJB1 (S26fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637615	NM_000166.6(GJB1):c.47A>T (p.His16Leu)	GJB1 (H16L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 637607	NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)	GJB1 (R15fs)	Insertion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637606	NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)	GJB1 (P70F)	Indel (missense variant)	Charcot-Marie-Tooth disease +1 more	GUncertain significance
Select item 637605	NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)	GJB1 (S138N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637601	NM_000166.6(GJB1):c.313del (p.Met105fs)	GJB1 (M105fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637598	NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)	GJB1 (D113fs)	Indel (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637597	NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)	GJB1 (S128*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637596	NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)	GJB1 (W44*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 637594	NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)	GJB1 (L144del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637593	NM_000166.6(GJB1):c.217del (p.His73fs)	GJB1 (H73fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637584	NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)	GJB1 (S182T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 637579	NM_000166.6(GJB1):c.553_555del (p.Thr185del)	GJB1 (T185del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance
Select item 637575	NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)	GJB1 (S198F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GLikely pathogenic
Select item 637573	NM_000166.6(GJB1):c.410del (p.Ile137fs)	GJB1 (I137fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease +1 more	GConflicting classifications of pathogenicity
Select item 637569	NM_000166.6(GJB1):c.124_125del (p.Ser42fs)	GJB1 (S42fs)	Microsatellite (frameshift variant)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 637565	NM_000166.6(GJB1):c.281A>G (p.His94Arg)	GJB1 (H94R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 1	GPathogenic
Select item 637562	NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)	GJB1 (Y65*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 637561	NM_000166.6(GJB1):c.277_278del (p.Met93fs)	GJB1 (M93fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 1 +1 more	GUncertain significance

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