Gjb1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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827 records found for search term Gjb1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8561684	CV25482	single nucleotide variant	GJB1, 367G-T	Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011188]	pathogenic				Human		name
8561683	CV25479	deletion	GJB1, 1-BP DEL	Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011185]	pathogenic				Human		name
8561687	CV25487	deletion	GJB1, 3-BP DEL, 304GAG	Charcot-Marie-Tooth Neuropathy X Type 1 [RCV000011193]	pathogenic				Human		name
11627318	CV352940	single nucleotide variant	NM_000166.6(GJB1):c.-6G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000279684]\|Charcot-Marie-Tooth disease [RCV001174172]\|not provided [RCV000711361]\|not specified [RCV004999360]	benign\|likely benign	X	71223702	71223702	Human	2	name
155802220	CV1864295	single nucleotide variant	NM_000166.6(GJB1):c.-45G>T	not provided [RCV002475248]	uncertain significance	X	71223307	71223307	Human		name
11524024	CV245176	single nucleotide variant	NM_000166.6(GJB1):c.-27C>T	not provided [RCV000711355]\|not specified [RCV000236973]	likely benign\|uncertain significance	X	71223325	71223325	Human		name
11523173	CV245177	single nucleotide variant	NM_000166.6(GJB1):c.-17G>A	Charcot-Marie-Tooth Neuropathy X [RCV000470682]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001249760]\|not provided [RCV000235476]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71223335	71223335	Human	2	name
11631854	CV352410	single nucleotide variant	NM_000166.6(GJB1):c.*34C>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000390006]\|not provided [RCV001643123]	benign	X	71224593	71224593	Human	1	name
408393544	CV3529482	single nucleotide variant	NM_000166.6(GJB1):c.-17G>T	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004776324]	likely pathogenic	X	71223335	71223335	Human	1	name
12839180	CV378612	single nucleotide variant	NM_000166.6(GJB1):c.-77G>A	not specified [RCV000428344]	benign\|likely benign\|conflicting interpretations of pathogenicity	X	71223275	71223275	Human		name
12847533	CV380117	single nucleotide variant	NM_000166.6(GJB1):c.*15C>T	Charcot-Marie-Tooth Neuropathy X [RCV001057812]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001782902]\|not provided [RCV004820847]	pathogenic\|likely pathogenic\|likely benign\|no classifications from unflagged records	X	71224574	71224574	Human	2	name
13706471	CV537574	single nucleotide variant	NM_000166.6(GJB1):c.-17G>C	not provided [RCV000659165]	uncertain significance	X	71215290	71215290	Human		name
28882401	CV903171	single nucleotide variant	NM_000166.6(GJB1):c.*22C>T	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001167897]	uncertain significance	X	71224581	71224581	Human	1	name
28882403	CV903172	single nucleotide variant	NM_000166.6(GJB1):c.*50G>C	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001167898]	uncertain significance	X	71224609	71224609	Human	1	name
34890596	CV905522	single nucleotide variant	NM_000166.6(GJB1):c.*18C>G	Charcot-Marie-Tooth disease [RCV001174170]	likely benign	X	71224577	71224577	Human	1	name
10408915	CV213890	single nucleotide variant	NM_000166.6(GJB1):c.-103C>T	Charcot-Marie-Tooth Neuropathy X [RCV000228634]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000201088]\|Charcot-Marie-Tooth disease [RCV001276387]\|not provided [RCV001570001]	pathogenic\|likely pathogenic	X	71223249	71223249	Human	3	name
405285963	CV3209729	single nucleotide variant	NM_000166.6(GJB1):c.-109C>T	GJB1-related disorder [RCV003959293]	likely benign	X	71223243	71223243	Human		name , trait , alternate_id
11623548	CV339521	single nucleotide variant	NM_000166.6(GJB1):c.-128G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000374092]	uncertain significance	X	71223224	71223224	Human	1	name
11618049	CV339522	single nucleotide variant	NM_000166.6(GJB1):c.*117C>T	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000309891]\|not provided [RCV001637010]	benign	X	71224676	71224676	Human	1	name
11630333	CV352422	single nucleotide variant	NM_000166.6(GJB1):c.*163G>T	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000346161]\|not provided [RCV001725177]	benign	X	71224722	71224722	Human	1	name
12838279	CV378608	single nucleotide variant	NM_000166.6(GJB1):c.-101C>T	GJB1-related disorder [RCV003902504]\|not provided [RCV000991851]\|not specified [RCV000426678]	likely benign\|uncertain significance	X	71223251	71223251	Human	1	name , trait , alternate_id
28880331	CV903170	single nucleotide variant	NM_000166.6(GJB1):c.-102G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001167300]\|not provided [RCV005416476]	uncertain significance	X	71223250	71223250	Human	1	name
28888893	CV903173	single nucleotide variant	NM_000166.6(GJB1):c.*277A>G	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001169759]	uncertain significance	X	71224836	71224836	Human	1	name
28888897	CV903174	single nucleotide variant	NM_000166.6(GJB1):c.*309G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001169760]	benign	X	71224868	71224868	Human	1	name
28888902	CV903175	single nucleotide variant	NM_000166.6(GJB1):c.*402G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001169761]	uncertain significance	X	71224961	71224961	Human	1	name
28888906	CV903176	single nucleotide variant	NM_000166.6(GJB1):c.*443G>A	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001169762]	uncertain significance	X	71225002	71225002	Human	1	name
156382781	CV1878298	single nucleotide variant	NM_000166.6(GJB1):c.-16-1G>A	Charcot-Marie-Tooth Neuropathy X [RCV003050621]	likely pathogenic\|uncertain significance	X	71223691	71223691	Human	1	name
11523018	CV244167	single nucleotide variant	NM_000166.6(GJB1):c.-16-2A>G	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000235072]	likely pathogenic	X	71223690	71223690	Human	1	name
405081450	CV2930185	single nucleotide variant	NM_000166.6(GJB1):c.-17+2T>G	Charcot-Marie-Tooth Neuropathy X [RCV003582080]	uncertain significance	X	71223337	71223337	Human	1	name
405284793	CV3201849	single nucleotide variant	NM_000166.6(GJB1):c.-16-4G>T	GJB1-related disorder [RCV003909372]	likely benign	X	71223688	71223688	Human		name , trait , alternate_id
597930722	CV3861795	single nucleotide variant	NM_000166.6(GJB1):c.-17+5G>T	Charcot-Marie-Tooth Neuropathy X [RCV005205171]	uncertain significance	X	71223340	71223340	Human	1	name
14700126	CV625772	single nucleotide variant	NM_000166.6(GJB1):c.-16-3C>G	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005225148]\|Charcot-Marie-Tooth disease [RCV000789809]	uncertain significance	X	71223689	71223689	Human	2	name
150417892	CV1195808	single nucleotide variant	NM_000166.6(GJB1):c.-16-82G>C	not provided [RCV001568970]	likely benign	X	71223610	71223610	Human		name
41406810	CV983259	single nucleotide variant	NM_000166.6(GJB1):c.-17+10C>A	not provided [RCV001288928]	uncertain significance	X	71223345	71223345	Human		name
12847932	CV378613	single nucleotide variant	NM_000166.6(GJB1):c.-17+116C>T	not provided [RCV004713948]\|not specified [RCV000444378]	benign	X	71223451	71223451	Human		name
151772991	CV1401280	deletion	NM_000166.6(GJB1):c.-16-8_-12del	Charcot-Marie-Tooth Neuropathy X [RCV002025543]	uncertain significance	X	71223681	71223693	Human	1	name
150417961	CV1195807	single nucleotide variant	NM_001097642.3(GJB1):c.-16-613C>T	not provided [RCV001569002]	likely benign	X	71223079	71223079	Human		name
152060923	CV1667552	single nucleotide variant	NM_001097642.3(GJB1):c.-16-580T>G	not provided [RCV002214540]	uncertain significance	X	71223112	71223112	Human		name
156161696	CV2096909	single nucleotide variant	NM_001097642.3(GJB1):c.-16-511G>T	Charcot-Marie-Tooth Neuropathy X [RCV002872684]\|GJB1-related disorder [RCV004731299]	uncertain significance	X	71223181	71223181	Human	2	name , trait , alternate_id
8561685	CV25484	single nucleotide variant	NM_001097642.3(GJB1):c.-16-513T>G	Charcot-Marie-Tooth Neuropathy X [RCV005089225]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011190]	pathogenic\|uncertain significance	X	71223179	71223179	Human	2	name
8561688	CV25488	single nucleotide variant	NM_001097642.3(GJB1):c.-16-511G>C	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011194]	pathogenic	X	71223181	71223181	Human	1	name
11547968	CV257875	single nucleotide variant	NM_001097642.3(GJB1):c.-16-697G>A	Charcot-Marie-Tooth Neuropathy X [RCV001516879]\|not provided [RCV000841185]\|not specified [RCV000248461]	benign	X	71222995	71222995	Human	1	name
405071781	CV3021540	deletion	NM_000166.6(GJB1):c.-16-35_264del	Charcot-Marie-Tooth Neuropathy X [RCV003742259]	pathogenic	X	71223643	71223957	Human	1	name
12891062	CV404594	single nucleotide variant	NM_001097642.3(GJB1):c.-16-524C>G	Charcot-Marie-Tooth Neuropathy X [RCV000475866]\|not provided [RCV003231487]	pathogenic\|uncertain significance	X	71223168	71223168	Human	1	name
13626455	CV535064	single nucleotide variant	NM_001097642.3(GJB1):c.-16-513T>C	Charcot-Marie-Tooth Neuropathy X [RCV000654842]\|not provided [RCV004588082]	pathogenic\|likely pathogenic\|uncertain significance	X	71223179	71223179	Human	1	name
38462402	CV961022	single nucleotide variant	NM_001097642.3(GJB1):c.-16-475C>G	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001248806]	uncertain significance	X	71223217	71223217	Human	1	name
127261904	CV1086830	single nucleotide variant	NM_000166.6(GJB1):c.21C>T (p.Tyr7=)	Charcot-Marie-Tooth Neuropathy X [RCV001402514]	likely benign	X	71223728	71223728	Human	1	name
127264928	CV1065494	single nucleotide variant	NM_000166.6(GJB1):c.2T>C (p.Met1Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001388320]	pathogenic	X	71223709	71223709	Human	1	name
127271004	CV1108533	single nucleotide variant	NM_000166.6(GJB1):c.36C>T (p.Gly12=)	Charcot-Marie-Tooth Neuropathy X [RCV001441640]	likely benign	X	71223743	71223743	Human	1	name
152074144	CV1556793	single nucleotide variant	NM_000166.6(GJB1):c.33T>C (p.Ser11=)	Charcot-Marie-Tooth Neuropathy X [RCV002111863]	likely benign	X	71223740	71223740	Human	1	name
152112622	CV1604304	single nucleotide variant	NM_000166.6(GJB1):c.99C>T (p.Ile33=)	Charcot-Marie-Tooth Neuropathy X [RCV002097057]	likely benign	X	71223806	71223806	Human	1	name
156180962	CV1868345	single nucleotide variant	NM_000166.6(GJB1):c.81C>T (p.Val27=)	Charcot-Marie-Tooth Neuropathy X [RCV003041342]	likely benign	X	71223788	71223788	Human	1	name
156349579	CV1878299	single nucleotide variant	NM_000166.6(GJB1):c.3G>C (p.Met1Ile)	Charcot-Marie-Tooth Neuropathy X [RCV003064736]	pathogenic	X	71223710	71223710	Human	1	name
156382791	CV1878300	single nucleotide variant	NM_000166.6(GJB1):c.5A>G (p.Asn2Ser)	Charcot-Marie-Tooth Neuropathy X [RCV003050622]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004720376]	uncertain significance	X	71223712	71223712	Human	2	name
156351486	CV1926697	single nucleotide variant	NM_000166.6(GJB1):c.54T>C (p.Thr18=)	Charcot-Marie-Tooth Neuropathy X [RCV002650923]	likely benign	X	71223761	71223761	Human	1	name
156086351	CV2060548	single nucleotide variant	NM_000166.6(GJB1):c.30C>A (p.Leu10=)	Charcot-Marie-Tooth Neuropathy X [RCV002824025]	benign	X	71223737	71223737	Human	1	name
156026707	CV2116529	single nucleotide variant	NM_000166.6(GJB1):c.30C>G (p.Leu10=)	Charcot-Marie-Tooth Neuropathy X [RCV002923325]	likely benign	X	71223737	71223737	Human	1	name
10405888	CV213497	single nucleotide variant	NM_000166.6(GJB1):c.9G>A (p.Trp3Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000199286]	pathogenic	X	71223716	71223716	Human	1	name
243053357	CV2404559	single nucleotide variant	NM_000166.6(GJB1):c.57C>T (p.Ala19=)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129586]	pathogenic	X	71223764	71223764	Human	1	name
243053361	CV2404561	single nucleotide variant	NM_000166.6(GJB1):c.48T>C (p.His16=)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129588]	pathogenic	X	71223755	71223755	Human	1	name
243053363	CV2404562	single nucleotide variant	NM_000166.6(GJB1):c.1A>G (p.Met1Val)	Charcot-Marie-Tooth Neuropathy X [RCV003581890]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129589]	pathogenic\|likely pathogenic	X	71223708	71223708	Human	2	name
13626461	CV534951	single nucleotide variant	NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000654851]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447153]\|Charcot-Marie-Tooth disease [RCV000789800]	pathogenic\|uncertain significance	X	71223715	71223715	Human	3	name
13626460	CV535192	single nucleotide variant	NM_000166.6(GJB1):c.8G>C (p.Trp3Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000654850]\|Charcot-Marie-Tooth disease [RCV000789228]	pathogenic\|uncertain significance	X	71223715	71223715	Human	2	name
14699782	CV625442	single nucleotide variant	NM_000166.6(GJB1):c.1A>T (p.Met1Leu)	Charcot-Marie-Tooth disease [RCV000789288]	uncertain significance	X	71223708	71223708	Human	1	name
14700144	CV625443	single nucleotide variant	NM_000166.6(GJB1):c.2T>G (p.Met1Arg)	Charcot-Marie-Tooth disease [RCV000789841]	uncertain significance	X	71223709	71223709	Human	1	name
14700178	CV625444	single nucleotide variant	NM_000166.6(GJB1):c.3G>T (p.Met1Ile)	Charcot-Marie-Tooth disease [RCV000789884]	uncertain significance	X	71223710	71223710	Human	1	name
14699720	CV625445	single nucleotide variant	NM_000166.6(GJB1):c.6C>G (p.Asn2Lys)	Charcot-Marie-Tooth disease [RCV000789206]\|not provided [RCV005231332]	likely pathogenic\|uncertain significance	X	71223713	71223713	Human	1	name
14699737	CV625446	single nucleotide variant	NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003485644]\|Charcot-Marie-Tooth disease [RCV000789227]\|not provided [RCV002473134]	uncertain significance	X	71223714	71223714	Human	2	name
14699760	CV625447	single nucleotide variant	NM_000166.6(GJB1):c.7T>G (p.Trp3Gly)	Charcot-Marie-Tooth disease [RCV000789261]	uncertain significance	X	71223714	71223714	Human	1	name
14699984	CV625455	single nucleotide variant	NM_000166.6(GJB1):c.30C>T (p.Leu10=)	Charcot-Marie-Tooth Neuropathy X [RCV000865381]\|Charcot-Marie-Tooth disease [RCV001174166]\|Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome [RCV001271688]\|not provided [RCV001592966]\|not specified [RCV000789600]	benign\|likely benign	X	71223737	71223737	Human	3	name
15198845	CV758638	single nucleotide variant	NM_000166.6(GJB1):c.36C>A (p.Gly12=)	Charcot-Marie-Tooth Neuropathy X [RCV003581751]	likely benign	X	71223743	71223743	Human	1	name
15203329	CV758639	single nucleotide variant	NM_000166.6(GJB1):c.75C>G (p.Leu25=)	Charcot-Marie-Tooth Neuropathy X [RCV002065850]	likely benign	X	71223782	71223782	Human	1	name
15139508	CV774194	single nucleotide variant	NM_000166.6(GJB1):c.69A>G (p.Val23=)	Charcot-Marie-Tooth Neuropathy X [RCV001429240]	likely benign	X	71223776	71223776	Human	1	name
15179648	CV774195	single nucleotide variant	NM_000166.6(GJB1):c.93C>T (p.Phe31=)	Charcot-Marie-Tooth Neuropathy X [RCV000929692]	likely benign	X	71223800	71223800	Human	1	name
38487668	CV929802	single nucleotide variant	NM_000166.6(GJB1):c.2T>A (p.Met1Lys)	Charcot-Marie-Tooth Neuropathy X [RCV001220843]	pathogenic\|likely pathogenic	X	71223709	71223709	Human	1	name
41407203	CV983260	single nucleotide variant	NM_000166.6(GJB1):c.78G>A (p.Ser26=)	Charcot-Marie-Tooth Neuropathy X [RCV002543005]\|not specified [RCV001289399]	benign\|likely benign	X	71223785	71223785	Human	1	name
127233422	CV1086831	single nucleotide variant	NM_000166.6(GJB1):c.108G>C (p.Leu36=)	Charcot-Marie-Tooth Neuropathy X [RCV001413874]	likely benign	X	71223815	71223815	Human	1	name
127247535	CV1086832	single nucleotide variant	NM_000166.6(GJB1):c.171G>A (p.Gln57=)	Charcot-Marie-Tooth Neuropathy X [RCV001399148]	likely benign	X	71223878	71223878	Human	1	name
127282999	CV1086833	single nucleotide variant	NM_000166.6(GJB1):c.270C>G (p.Leu90=)	Charcot-Marie-Tooth Neuropathy X [RCV001411503]	likely benign	X	71223977	71223977	Human	1	name
127260923	CV1108534	single nucleotide variant	NM_000166.6(GJB1):c.120A>G (p.Ala40=)	Charcot-Marie-Tooth Neuropathy X [RCV001438713]	likely benign	X	71223827	71223827	Human	1	name
127263601	CV1108535	single nucleotide variant	NM_000166.6(GJB1):c.129G>A (p.Val43=)	Charcot-Marie-Tooth Neuropathy X [RCV001439334]	likely benign	X	71223836	71223836	Human	1	name
127316358	CV1129912	single nucleotide variant	NM_000166.6(GJB1):c.108G>T (p.Leu36=)	Charcot-Marie-Tooth Neuropathy X [RCV001465519]	likely benign	X	71223815	71223815	Human	1	name
127306107	CV1129913	single nucleotide variant	NM_000166.6(GJB1):c.135T>G (p.Gly45=)	Charcot-Marie-Tooth Neuropathy X [RCV001455401]	likely benign	X	71223842	71223842	Human	1	name
127336205	CV1150936	single nucleotide variant	NM_000166.6(GJB1):c.126T>C (p.Ser42=)	Charcot-Marie-Tooth Neuropathy X [RCV001492014]	likely benign	X	71223833	71223833	Human	1	name
127319062	CV1150937	single nucleotide variant	NM_000166.6(GJB1):c.282C>T (p.His94=)	Charcot-Marie-Tooth Neuropathy X [RCV001503910]\|Charcot-Marie-Tooth disease [RCV001836424]	benign\|likely benign	X	71223989	71223989	Human	2	name
152082557	CV1525177	single nucleotide variant	NM_000166.6(GJB1):c.165A>G (p.Thr55=)	Charcot-Marie-Tooth Neuropathy X [RCV002131006]	likely benign	X	71223872	71223872	Human	1	name
152101045	CV1578821	single nucleotide variant	NM_000166.6(GJB1):c.294G>A (p.Gln98=)	Charcot-Marie-Tooth Neuropathy X [RCV002078994]	likely benign	X	71224001	71224001	Human	1	name
152041023	CV1627798	single nucleotide variant	NM_000166.6(GJB1):c.162C>T (p.Asn54=)	Charcot-Marie-Tooth Neuropathy X [RCV002188262]	likely benign	X	71223869	71223869	Human	1	name
152049825	CV1656313	single nucleotide variant	NM_000166.6(GJB1):c.183C>T (p.Asn61=)	Charcot-Marie-Tooth Neuropathy X [RCV002207379]	likely benign	X	71223890	71223890	Human	1	name
155642502	CV1707438	single nucleotide variant	NM_000166.6(GJB1):c.21C>A (p.Tyr7Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002288368]	likely pathogenic	X	71223728	71223728	Human	1	name
156073535	CV1889909	single nucleotide variant	NM_000166.6(GJB1):c.228G>A (p.Leu76=)	Charcot-Marie-Tooth Neuropathy X [RCV003079621]	likely benign	X	71223935	71223935	Human	1	name
156107884	CV2002116	single nucleotide variant	NM_000166.6(GJB1):c.216C>T (p.Ser72=)	Charcot-Marie-Tooth Neuropathy X [RCV002639824]	likely benign	X	71223923	71223923	Human	1	name
156136751	CV2097390	single nucleotide variant	NM_000166.6(GJB1):c.198C>T (p.Asp66=)	Charcot-Marie-Tooth Neuropathy X [RCV002890150]	likely benign	X	71223905	71223905	Human	1	name
10768613	CV222886	single nucleotide variant	NM_000166.6(GJB1):c.235C>T (p.Leu79=)	Charcot-Marie-Tooth Neuropathy X [RCV000206696]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000334402]\|Dejerine-Sottas disease [RCV000790303]\|GJB1-related disorder [RCV003937788]\|Inborn genetic diseases [RCV002317742]\|not provided [RCV001310732]\|not spec ... (more) ified [RCV000435876]	benign\|likely benign\|uncertain significance	X	71223942	71223942	Human	4	name , trait , alternate_id
405067868	CV3015119	single nucleotide variant	NM_000166.6(GJB1):c.216C>G (p.Ser72=)	Charcot-Marie-Tooth Neuropathy X [RCV003742125]	likely benign	X	71223923	71223923	Human	1	name
405247456	CV3158803	single nucleotide variant	NM_000166.6(GJB1):c.201A>G (p.Gln67=)	Charcot-Marie-Tooth Neuropathy X [RCV003869145]	likely benign	X	71223908	71223908	Human	1	name
408393190	CV3525527	single nucleotide variant	NM_000166.6(GJB1):c.23C>G (p.Thr8Ser)	not specified [RCV004771411]	uncertain significance	X	71223730	71223730	Human		name
12899681	CV411470	single nucleotide variant	NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	Charcot-Marie-Tooth Neuropathy X [RCV000697574]\|Charcot-Marie-Tooth disease [RCV001027491]\|not provided [RCV000480735]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71223721	71223721	Human	2	name
13484310	CV442445	single nucleotide variant	NM_000166.6(GJB1):c.297A>G (p.Gln99=)	Charcot-Marie-Tooth Neuropathy X [RCV001364429]\|not specified [RCV000518426]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224004	71224004	Human	1	name
13499000	CV471975	single nucleotide variant	NM_000166.6(GJB1):c.270C>T (p.Leu90=)	Charcot-Marie-Tooth Neuropathy X [RCV001493440]\|Inborn genetic diseases [RCV002431720]	likely benign	X	71223977	71223977	Human	2	name
13809076	CV577977	single nucleotide variant	NM_000166.6(GJB1):c.26T>C (p.Leu9Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001068645]\|Inborn genetic diseases [RCV002440563]\|not provided [RCV000711354]	uncertain significance	X	71223733	71223733	Human	2	name
14700198	CV625448	single nucleotide variant	NM_000166.6(GJB1):c.11C>A (p.Thr4Lys)	Charcot-Marie-Tooth disease [RCV000789906]	uncertain significance	X	71223718	71223718	Human	1	name
14700173	CV625449	single nucleotide variant	NM_000166.6(GJB1):c.13G>A (p.Gly5Ser)	Charcot-Marie-Tooth disease [RCV000789877]	uncertain significance	X	71223720	71223720	Human	1	name
14699783	CV625450	single nucleotide variant	NM_000166.6(GJB1):c.20A>G (p.Tyr7Cys)	Charcot-Marie-Tooth disease [RCV000789289]	uncertain significance	X	71223727	71223727	Human	1	name
14700155	CV625451	single nucleotide variant	NM_000166.6(GJB1):c.22A>C (p.Thr8Pro)	Charcot-Marie-Tooth disease [RCV000789856]	uncertain significance	X	71223729	71223729	Human	1	name
14699723	CV625452	single nucleotide variant	NM_000166.6(GJB1):c.23C>T (p.Thr8Ile)	Charcot-Marie-Tooth disease [RCV000789209]	uncertain significance	X	71223730	71223730	Human	1	name
14699777	CV625453	single nucleotide variant	NM_000166.6(GJB1):c.26T>G (p.Leu9Trp)	Charcot-Marie-Tooth disease [RCV000789281]	uncertain significance	X	71223733	71223733	Human	1	name
14699708	CV625454	single nucleotide variant	NM_000166.6(GJB1):c.27G>T (p.Leu9Phe)	Charcot-Marie-Tooth disease [RCV000789193]	uncertain significance	X	71223734	71223734	Human	1	name
14700236	CV625459	deletion	NM_000166.6(GJB1):c.43del (p.Arg15fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447301]\|Charcot-Marie-Tooth disease [RCV000789952]	uncertain significance	X	71223749	71223749	Human	2	name
14699795	CV625469	deletion	NM_000166.6(GJB1):c.62del (p.Gly21fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447223]\|Charcot-Marie-Tooth disease [RCV000789302]	uncertain significance	X	71223768	71223768	Human	2	name
14700175	CV625479	deletion	NM_000166.6(GJB1):c.77del (p.Ser26fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447284]\|Charcot-Marie-Tooth disease [RCV000789881]	uncertain significance	X	71223784	71223784	Human	2	name
14700188	CV625482	deletion	NM_000166.6(GJB1):c.84del (p.Phe29fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447287]\|Charcot-Marie-Tooth disease [RCV000789894]	uncertain significance	X	71223791	71223791	Human	2	name
14700468	CV625540	single nucleotide variant	NM_000166.6(GJB1):c.234C>T (p.Ser78=)	Charcot-Marie-Tooth disease [RCV000790304]	uncertain significance	X	71223941	71223941	Human	1	name
15137150	CV758640	single nucleotide variant	NM_000166.6(GJB1):c.261A>G (p.Pro87=)	Charcot-Marie-Tooth Neuropathy X [RCV001439944]\|Charcot-Marie-Tooth disease [RCV001174171]	likely benign	X	71223968	71223968	Human	2	name
38482052	CV939672	single nucleotide variant	NM_000166.6(GJB1):c.17T>C (p.Leu6Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001207102]	uncertain significance	X	71223724	71223724	Human	1	name
40889477	CV975646	deletion	NM_000166.6(GJB1):c.35del (p.Gly12fs)	not provided [RCV001267998]	pathogenic	X	71223741	71223741	Human		name
41406808	CV983261	single nucleotide variant	NM_000166.6(GJB1):c.147T>C (p.Ser49=)	Charcot-Marie-Tooth Neuropathy X [RCV002069558]\|not provided [RCV001288926]	likely benign\|uncertain significance	X	71223854	71223854	Human	1	name
126763938	CV1015055	single nucleotide variant	NM_000166.6(GJB1):c.38T>G (p.Val13Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001319438]	uncertain significance	X	71223745	71223745	Human	1	name
126726399	CV1035621	single nucleotide variant	NM_000166.6(GJB1):c.68T>A (p.Val23Glu)	Charcot-Marie-Tooth Neuropathy X [RCV001348443]	uncertain significance	X	71223775	71223775	Human	1	name
127275628	CV1086834	single nucleotide variant	NM_000166.6(GJB1):c.393G>A (p.Leu131=)	Charcot-Marie-Tooth Neuropathy X [RCV001406791]	likely benign	X	71224100	71224100	Human	1	name
127254863	CV1086835	single nucleotide variant	NM_000166.6(GJB1):c.633C>T (p.Tyr211=)	Charcot-Marie-Tooth Neuropathy X [RCV001418636]	likely benign	X	71224340	71224340	Human	1	name
127232194	CV1108536	single nucleotide variant	NM_000166.6(GJB1):c.345A>G (p.Leu115=)	Charcot-Marie-Tooth Neuropathy X [RCV001421205]	likely benign	X	71224052	71224052	Human	1	name
127237684	CV1108537	single nucleotide variant	NM_000166.6(GJB1):c.378C>T (p.His126=)	Charcot-Marie-Tooth Neuropathy X [RCV001422743]	likely benign	X	71224085	71224085	Human	1	name
127246213	CV1108538	single nucleotide variant	NM_000166.6(GJB1):c.510C>G (p.Val170=)	Charcot-Marie-Tooth Neuropathy X [RCV001435364]	likely benign	X	71224217	71224217	Human	1	name
127279674	CV1108539	single nucleotide variant	NM_000166.6(GJB1):c.519C>T (p.Cys173=)	Charcot-Marie-Tooth Neuropathy X [RCV001445930]	likely benign	X	71224226	71224226	Human	1	name
127253947	CV1108540	single nucleotide variant	NM_000166.6(GJB1):c.564C>T (p.Thr188=)	Charcot-Marie-Tooth Neuropathy X [RCV001426201]	likely benign	X	71224271	71224271	Human	1	name
127323151	CV1129914	single nucleotide variant	NM_000166.6(GJB1):c.420G>A (p.Val140=)	Charcot-Marie-Tooth Neuropathy X [RCV001467818]	likely benign	X	71224127	71224127	Human	1	name
127312847	CV1129915	single nucleotide variant	NM_000166.6(GJB1):c.546C>T (p.Ser182=)	Charcot-Marie-Tooth Neuropathy X [RCV001457255]\|not provided [RCV003883650]	likely benign	X	71224253	71224253	Human	1	name
127307741	CV1129916	single nucleotide variant	NM_000166.6(GJB1):c.555C>T (p.Thr185=)	Charcot-Marie-Tooth Neuropathy X [RCV001463136]\|not provided [RCV004704583]	likely benign	X	71224262	71224262	Human	1	name
127293367	CV1129917	single nucleotide variant	NM_000166.6(GJB1):c.681A>T (p.Pro227=)	Charcot-Marie-Tooth Neuropathy X [RCV001459214]	likely benign	X	71224388	71224388	Human	1	name
127331983	CV1150938	single nucleotide variant	NM_000166.6(GJB1):c.606C>T (p.Ile202=)	Charcot-Marie-Tooth Neuropathy X [RCV001489181]	likely benign	X	71224313	71224313	Human	1	name
127335347	CV1150939	single nucleotide variant	NM_000166.6(GJB1):c.831C>T (p.Ser277=)	Charcot-Marie-Tooth Neuropathy X [RCV001491479]	likely benign	X	71224538	71224538	Human	1	name
127291501	CV1159823	single nucleotide variant	NM_000166.6(GJB1):c.504C>T (p.Cys168=)	Charcot-Marie-Tooth Neuropathy X [RCV001510404]	benign	X	71224211	71224211	Human	1	name
127318658	CV1159824	single nucleotide variant	NM_000166.6(GJB1):c.705C>T (p.Phe235=)	Charcot-Marie-Tooth Neuropathy X [RCV001521744]\|not provided [RCV003438864]	benign\|likely benign	X	71224412	71224412	Human	1	name
127321585	CV1159825	single nucleotide variant	NM_000166.6(GJB1):c.843G>A (p.Ser281=)	Charcot-Marie-Tooth Neuropathy X [RCV001523116]	benign	X	71224550	71224550	Human	1	name
151349318	CV1170392	single nucleotide variant	NM_000166.6(GJB1):c.46C>G (p.His16Asp)	Peripheral neuropathy [RCV001814518]\|not provided [RCV005225423]	pathogenic\|likely pathogenic	X	71223753	71223753	Human	2	name
150432469	CV1246301	deletion	NM_000166.6(GJB1):c.235del (p.Leu79fs)	not provided [RCV001663714]	pathogenic	X	71223940	71223940	Human		name
151786156	CV1344926	single nucleotide variant	NM_000166.6(GJB1):c.92T>G (p.Phe31Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001989596]\|Inborn genetic diseases [RCV002370679]	uncertain significance	X	71223799	71223799	Human	2	name
151822856	CV1466175	deletion	NM_000166.6(GJB1):c.250del (p.Val84fs)	Charcot-Marie-Tooth Neuropathy X [RCV001879384]	pathogenic	X	71223957	71223957	Human	1	name
152108041	CV1529928	single nucleotide variant	NM_000166.6(GJB1):c.354G>A (p.Glu118=)	Charcot-Marie-Tooth Neuropathy X [RCV002196409]	likely benign	X	71224061	71224061	Human	1	name
152112165	CV1532179	single nucleotide variant	NM_000166.6(GJB1):c.363G>A (p.Lys121=)	Charcot-Marie-Tooth Neuropathy X [RCV002116691]	likely benign	X	71224070	71224070	Human	1	name
152047006	CV1548542	single nucleotide variant	NM_000166.6(GJB1):c.849C>T (p.Cys283=)	Charcot-Marie-Tooth Neuropathy X [RCV002071713]	benign	X	71224556	71224556	Human	1	name
152090545	CV1580846	single nucleotide variant	NM_000166.6(GJB1):c.732G>A (p.Lys244=)	Charcot-Marie-Tooth Neuropathy X [RCV002094111]	likely benign	X	71224439	71224439	Human	1	name
152124074	CV1587352	single nucleotide variant	NM_000166.6(GJB1):c.375C>T (p.Val125=)	Charcot-Marie-Tooth Neuropathy X [RCV002136089]	likely benign	X	71224082	71224082	Human	1	name
152162926	CV1593392	single nucleotide variant	NM_000166.6(GJB1):c.501G>A (p.Lys167=)	Charcot-Marie-Tooth Neuropathy X [RCV002104141]	likely benign	X	71224208	71224208	Human	1	name
152167833	CV1611719	single nucleotide variant	NM_000166.6(GJB1):c.522C>T (p.Pro174=)	Charcot-Marie-Tooth Neuropathy X [RCV002182270]	likely benign	X	71224229	71224229	Human	1	name
152114768	CV1612606	single nucleotide variant	NM_000166.6(GJB1):c.639C>T (p.Ile213=)	Charcot-Marie-Tooth Neuropathy X [RCV002174785]	likely benign	X	71224346	71224346	Human	1	name
152068541	CV1613621	single nucleotide variant	NM_000166.6(GJB1):c.744C>A (p.Ile248=)	Charcot-Marie-Tooth Neuropathy X [RCV002074779]	likely benign	X	71224451	71224451	Human	1	name
152089626	CV1634034	single nucleotide variant	NM_000166.6(GJB1):c.717C>G (p.Leu239=)	Charcot-Marie-Tooth Neuropathy X [RCV002194127]	likely benign	X	71224424	71224424	Human	1	name
152149724	CV1635922	single nucleotide variant	NM_000166.6(GJB1):c.360G>A (p.Val120=)	Charcot-Marie-Tooth Neuropathy X [RCV002102045]	likely benign	X	71224067	71224067	Human	1	name
9586759	CV165480	single nucleotide variant	NM_000166.6(GJB1):c.77C>T (p.Ser26Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000460808]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000143795]\|not provided [RCV000437610]	pathogenic	X	71223784	71223784	Human	2	name
152146945	CV1656008	single nucleotide variant	NM_000166.6(GJB1):c.837C>T (p.Arg279=)	Charcot-Marie-Tooth Neuropathy X [RCV002220196]	likely benign	X	71224544	71224544	Human	1	name
153301493	CV1685758	single nucleotide variant	NM_000166.6(GJB1):c.47A>G (p.His16Arg)	not provided [RCV002260735]	likely pathogenic	X	71223754	71223754	Human		name
155643194	CV1707722	single nucleotide variant	NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002289183]\|not provided [RCV002473363]	likely pathogenic	X	71223751	71223751	Human	1	name
155664575	CV1795434	single nucleotide variant	NM_000166.6(GJB1):c.33T>G (p.Ser11Arg)	Inborn genetic diseases [RCV002452069]	uncertain significance	X	71223740	71223740	Human	1	name
156397777	CV1880776	single nucleotide variant	NM_000166.6(GJB1):c.480T>C (p.Tyr160=)	Charcot-Marie-Tooth Neuropathy X [RCV003068824]	likely benign	X	71224187	71224187	Human	1	name
156160011	CV1977751	single nucleotide variant	NM_000166.6(GJB1):c.384A>G (p.Ser128=)	Charcot-Marie-Tooth Neuropathy X [RCV002594433]	likely benign	X	71224091	71224091	Human	1	name
156262006	CV1997103	single nucleotide variant	NM_000166.6(GJB1):c.489G>A (p.Val163=)	Charcot-Marie-Tooth Neuropathy X [RCV002646246]	likely benign	X	71224196	71224196	Human	1	name
156266419	CV2011193	single nucleotide variant	NM_000166.6(GJB1):c.591C>T (p.Ala197=)	Charcot-Marie-Tooth Neuropathy X [RCV002714831]	likely benign	X	71224298	71224298	Human	1	name
10405795	CV213498	single nucleotide variant	NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	Charcot-Marie-Tooth Neuropathy X [RCV000198281]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000756204]\|Charcot-Marie-Tooth disease [RCV000789176]\|Inborn genetic diseases [RCV002433887]	pathogenic\|likely pathogenic\|uncertain significance	X	71223790	71223790	Human	4	name
156079178	CV2138088	single nucleotide variant	NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)	Charcot-Marie-Tooth Neuropathy X [RCV002979199]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005050678]	pathogenic\|likely pathogenic\|uncertain significance	X	71223759	71223759	Human	2	name
10408918	CV213891	single nucleotide variant	NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)	Charcot-Marie-Tooth Neuropathy X [RCV000234336]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447516]\|Inborn genetic diseases [RCV002327051]\|not provided [RCV000235929]	pathogenic	X	71223751	71223751	Human	3	name
155970292	CV2139691	single nucleotide variant	NM_000166.6(GJB1):c.300C>T (p.His100=)	Charcot-Marie-Tooth Neuropathy X [RCV002995591]	likely benign	X	71224007	71224007	Human	1	name
156005005	CV2166734	single nucleotide variant	NM_000166.6(GJB1):c.364A>C (p.Arg122=)	Charcot-Marie-Tooth Neuropathy X [RCV003017450]	likely benign	X	71224071	71224071	Human	1	name
156228569	CV2176602	deletion	NM_000166.6(GJB1):c.157del (p.Cys53fs)	Charcot-Marie-Tooth Neuropathy X [RCV003059216]	pathogenic	X	71223864	71223864	Human	1	name
243053349	CV2404556	single nucleotide variant	NM_000166.6(GJB1):c.95G>A (p.Arg32Lys)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129583]	pathogenic	X	71223802	71223802	Human	1	name
243053351	CV2404557	single nucleotide variant	NM_000166.6(GJB1):c.90C>G (p.Ile30Met)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129584]	pathogenic	X	71223797	71223797	Human	1	name
243053355	CV2404558	single nucleotide variant	NM_000166.6(GJB1):c.88A>T (p.Ile30Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129585]	pathogenic	X	71223795	71223795	Human	1	name
243053358	CV2404560	single nucleotide variant	NM_000166.6(GJB1):c.58A>T (p.Ile20Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003129587]	pathogenic	X	71223765	71223765	Human	1	name
11523313	CV245178	single nucleotide variant	NM_000166.6(GJB1):c.83T>C (p.Ile28Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001203741]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004783768]\|Charcot-Marie-Tooth disease [RCV000789177]\|not provided [RCV000235732]	likely pathogenic\|uncertain significance	X	71223790	71223790	Human	3	name
8598498	CV25475	single nucleotide variant	NM_000166.6(GJB1):c.89T>A (p.Ile30Asn)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011181]	pathogenic	X	71223796	71223796	Human	1	name
8598501	CV25478	single nucleotide variant	NM_000166.6(GJB1):c.37G>T (p.Val13Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011184]	pathogenic	X	71223744	71223744	Human	1	name
405083657	CV2856183	single nucleotide variant	NM_000166.6(GJB1):c.564C>G (p.Thr188=)	Charcot-Marie-Tooth Neuropathy X [RCV003582303]	likely benign	X	71224271	71224271	Human	1	name
405070421	CV2881156	single nucleotide variant	NM_000166.6(GJB1):c.405T>C (p.Tyr135=)	Charcot-Marie-Tooth Neuropathy X [RCV003581083]	likely benign	X	71224112	71224112	Human	1	name
405073754	CV2889917	single nucleotide variant	NM_000166.6(GJB1):c.702C>T (p.Gly234=)	Charcot-Marie-Tooth Neuropathy X [RCV003581303]	likely benign	X	71224409	71224409	Human	1	name
405090695	CV2913256	single nucleotide variant	NM_000166.6(GJB1):c.56C>A (p.Ala19Asp)	Charcot-Marie-Tooth Neuropathy X [RCV003582855]	uncertain significance	X	71223763	71223763	Human	1	name
405080676	CV2923438	single nucleotide variant	NM_000166.6(GJB1):c.327G>A (p.Glu109=)	Charcot-Marie-Tooth Neuropathy X [RCV003582009]	likely benign	X	71224034	71224034	Human	1	name
405081502	CV2930458	duplication	NM_000166.6(GJB1):c.227dup (p.Trp77fs)	Charcot-Marie-Tooth Neuropathy X [RCV003582085]	pathogenic	X	71223933	71223934	Human	1	name
405094457	CV2932298	single nucleotide variant	NM_000166.6(GJB1):c.837C>G (p.Arg279=)	Charcot-Marie-Tooth Neuropathy X [RCV003583142]	likely benign	X	71224544	71224544	Human	1	name
405059236	CV2941626	single nucleotide variant	NM_000166.6(GJB1):c.642C>T (p.Ile214=)	Charcot-Marie-Tooth Neuropathy X [RCV003741432]	likely benign	X	71224349	71224349	Human	1	name
405062104	CV2967832	single nucleotide variant	NM_000166.6(GJB1):c.423C>T (p.Phe141=)	Charcot-Marie-Tooth Neuropathy X [RCV003741660]	likely benign	X	71224130	71224130	Human	1	name
405064757	CV2982716	single nucleotide variant	NM_000166.6(GJB1):c.402C>G (p.Thr134=)	Charcot-Marie-Tooth Neuropathy X [RCV003741887]	likely benign	X	71224109	71224109	Human	1	name
405065713	CV2994802	single nucleotide variant	NM_000166.6(GJB1):c.699G>C (p.Ser233=)	Charcot-Marie-Tooth Neuropathy X [RCV003741960]	likely benign	X	71224406	71224406	Human	1	name
405065686	CV2998275	single nucleotide variant	NM_000166.6(GJB1):c.579C>T (p.Phe193=)	Charcot-Marie-Tooth Neuropathy X [RCV003741958]	likely benign	X	71224286	71224286	Human	1	name
405068415	CV3006051	single nucleotide variant	NM_000166.6(GJB1):c.816G>A (p.Gly272=)	Charcot-Marie-Tooth Neuropathy X [RCV003742165]	likely benign	X	71224523	71224523	Human	1	name
405051945	CV3048442	single nucleotide variant	NM_000166.6(GJB1):c.711C>T (p.His237=)	Charcot-Marie-Tooth Neuropathy X [RCV003740689]	likely benign	X	71224418	71224418	Human	1	name
405073693	CV3050765	single nucleotide variant	NM_000166.6(GJB1):c.825A>G (p.Glu275=)	Charcot-Marie-Tooth Neuropathy X [RCV003742556]	likely benign	X	71224532	71224532	Human	1	name
405073292	CV3053364	single nucleotide variant	NM_000166.6(GJB1):c.804C>T (p.Gly268=)	Charcot-Marie-Tooth Neuropathy X [RCV003742529]	likely benign	X	71224511	71224511	Human	1	name
405073602	CV3054046	single nucleotide variant	NM_000166.6(GJB1):c.309G>A (p.Lys103=)	Charcot-Marie-Tooth Neuropathy X [RCV003742550]	likely benign	X	71224016	71224016	Human	1	name
405052811	CV3057028	single nucleotide variant	NM_000166.6(GJB1):c.430T>C (p.Leu144=)	Charcot-Marie-Tooth Neuropathy X [RCV003740760]	likely benign	X	71224137	71224137	Human	1	name
405046163	CV3141669	single nucleotide variant	NM_000166.6(GJB1):c.675C>T (p.Ser225=)	Charcot-Marie-Tooth Neuropathy X [RCV003831770]	likely benign	X	71224382	71224382	Human	1	name
405248400	CV3159216	single nucleotide variant	NM_000166.6(GJB1):c.759T>C (p.Ser253=)	Charcot-Marie-Tooth Neuropathy X [RCV003869361]	likely benign	X	71224466	71224466	Human	1	name
405193958	CV3167614	single nucleotide variant	NM_000166.6(GJB1):c.762G>A (p.Glu254=)	Charcot-Marie-Tooth Neuropathy X [RCV003860020]	likely benign	X	71224469	71224469	Human	1	name
8601018	CV33935	deletion	NM_000166.6(GJB1):c.225del (p.Leu76fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020173]\|Charcot-Marie-Tooth disease [RCV000789840]	pathogenic\|uncertain significance\|not provided	X	71223931	71223931	Human	2	name
8601019	CV33936	single nucleotide variant	NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000167902]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020174]\|Charcot-Marie-Tooth disease [RCV000789234]\|not provided [RCV000236824]	pathogenic\|uncertain significance\|not provided	X	71223750	71223750	Human	3	name
11627577	CV352942	single nucleotide variant	NM_000166.6(GJB1):c.507C>T (p.Asp169=)	Charcot-Marie-Tooth Neuropathy X [RCV001080619]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000285115]\|Charcot-Marie-Tooth disease [RCV001174167]\|not provided [RCV000711357]\|not specified [RCV000790236]	benign\|likely benign	X	71224214	71224214	Human	3	name
597944653	CV3755030	single nucleotide variant	NM_000166.6(GJB1):c.447C>T (p.Phe149=)	Charcot-Marie-Tooth Neuropathy X [RCV005078220]	likely benign	X	71224154	71224154	Human	1	name
597848414	CV3762166	single nucleotide variant	NM_000166.6(GJB1):c.843G>C (p.Ser281=)	not specified [RCV005087584]	likely benign	X	71224550	71224550	Human		name
597854275	CV3778252	single nucleotide variant	NM_000166.6(GJB1):c.50C>T (p.Ser17Phe)	Charcot-Marie-Tooth Neuropathy X [RCV005128791]	uncertain significance	X	71223757	71223757	Human	1	name
597909568	CV3839883	single nucleotide variant	NM_000166.6(GJB1):c.630G>A (p.Val210=)	Charcot-Marie-Tooth Neuropathy X [RCV005184622]	likely benign	X	71224337	71224337	Human	1	name
597926738	CV3854036	duplication	NM_000166.6(GJB1):c.171dup (p.Pro58fs)	Charcot-Marie-Tooth Neuropathy X [RCV005201320]	pathogenic	X	71223877	71223878	Human	1	name
616940216	CV4014725	single nucleotide variant	NM_000166.6(GJB1):c.65G>T (p.Arg22Leu)	not provided [RCV005414219]	likely pathogenic	X	71223772	71223772	Human		name
12890759	CV404289	single nucleotide variant	NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)	Charcot-Marie-Tooth Neuropathy X [RCV000475257]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000853377]\|Charcot-Marie-Tooth disease [RCV000789225]\|Inborn genetic diseases [RCV002365620]\|not provided [RCV000517974]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71223772	71223772	Human	4	name
12888650	CV404309	single nucleotide variant	NM_000166.6(GJB1):c.438G>A (p.Glu146=)	Charcot-Marie-Tooth Neuropathy X [RCV000471340]\|Charcot-Marie-Tooth disease [RCV001828463]	likely benign\|uncertain significance	X	71224145	71224145	Human	2	name
13435899	CV433590	single nucleotide variant	NM_000166.6(GJB1):c.52A>G (p.Thr18Ala)	Charcot-Marie-Tooth Neuropathy X [RCV000796386]\|not specified [RCV000506203]	uncertain significance	X	71223759	71223759	Human	1	name
13445711	CV438507	single nucleotide variant	NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)	Charcot-Marie-Tooth disease [RCV000512762]	likely pathogenic	X	71223757	71223757	Human	1	name
13469813	CV442441	single nucleotide variant	NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000796941]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000763633]\|Charcot-Marie-Tooth disease [RCV000789221]\|Inborn genetic diseases [RCV002367716]\|not provided [RCV000516443]	pathogenic\|uncertain significance	X	71223771	71223771	Human	4	name
13476781	CV442456	single nucleotide variant	NM_000166.6(GJB1):c.699G>A (p.Ser233=)	Charcot-Marie-Tooth Neuropathy X [RCV001439885]\|Inborn genetic diseases [RCV002367717]\|not specified [RCV000516197]	likely benign\|uncertain significance	X	71224406	71224406	Human	2	name
13466642	CV470975	single nucleotide variant	NM_000166.6(GJB1):c.34G>A (p.Gly12Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000552022]\|Charcot-Marie-Tooth disease [RCV000789811]	likely pathogenic\|uncertain significance	X	71223741	71223741	Human	2	name
13465936	CV470976	duplication	NM_000166.6(GJB1):c.183dup (p.Ser62fs)	Charcot-Marie-Tooth Neuropathy X [RCV000549070]	pathogenic	X	71223889	71223890	Human	1	name
13465656	CV471708	single nucleotide variant	NM_000166.6(GJB1):c.53C>G (p.Thr18Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000547989]	likely pathogenic\|uncertain significance	X	71223760	71223760	Human	1	name
13500131	CV472198	single nucleotide variant	NM_000166.6(GJB1):c.77C>G (p.Ser26Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000535675]\|Charcot-Marie-Tooth disease [RCV000789319]	pathogenic\|uncertain significance	X	71223784	71223784	Human	2	name
13626452	CV534952	single nucleotide variant	NM_000166.6(GJB1):c.58A>G (p.Ile20Val)	Charcot-Marie-Tooth Neuropathy X [RCV000654838]	uncertain significance	X	71223765	71223765	Human	1	name
13807612	CV572564	single nucleotide variant	NM_000166.6(GJB1):c.41A>T (p.Asn14Ile)	Charcot-Marie-Tooth Neuropathy X [RCV000686872]	uncertain significance	X	71223748	71223748	Human	1	name
13815766	CV572565	single nucleotide variant	NM_000166.6(GJB1):c.59T>C (p.Ile20Thr)	Charcot-Marie-Tooth Neuropathy X [RCV000705914]	likely pathogenic	X	71223766	71223766	Human	1	name
13805302	CV575444	single nucleotide variant	NM_000166.6(GJB1):c.35G>A (p.Gly12Asp)	Charcot-Marie-Tooth Neuropathy X [RCV000685646]	pathogenic\|uncertain significance	X	71223742	71223742	Human	1	name
14699767	CV625456	single nucleotide variant	NM_000166.6(GJB1):c.31A>G (p.Ser11Gly)	Charcot-Marie-Tooth disease [RCV000789269]	uncertain significance	X	71223738	71223738	Human	1	name
14699692	CV625457	single nucleotide variant	NM_000166.6(GJB1):c.37G>A (p.Val13Met)	Charcot-Marie-Tooth Neuropathy X [RCV000808363]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001836650]\|Charcot-Marie-Tooth disease [RCV000789172]\|Inborn genetic diseases [RCV002352304]\|not provided [RCV001027489]	pathogenic\|likely pathogenic\|likely benign\|uncertain significance\|no classifications from unflagged records	X	71223744	71223744	Human	4	name
14700235	CV625458	single nucleotide variant	NM_000166.6(GJB1):c.41A>G (p.Asn14Ser)	Charcot-Marie-Tooth disease [RCV000789949]	uncertain significance	X	71223748	71223748	Human	1	name
14699693	CV625462	single nucleotide variant	NM_000166.6(GJB1):c.47A>C (p.His16Pro)	Charcot-Marie-Tooth disease [RCV000789173]	uncertain significance	X	71223754	71223754	Human	1	name
14700171	CV625463	single nucleotide variant	NM_000166.6(GJB1):c.47A>T (p.His16Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001353154]\|Charcot-Marie-Tooth disease [RCV000789875]	pathogenic\|uncertain significance	X	71223754	71223754	Human	2	name
14700169	CV625464	single nucleotide variant	NM_000166.6(GJB1):c.48T>G (p.His16Gln)	Charcot-Marie-Tooth disease [RCV000789873]	uncertain significance	X	71223755	71223755	Human	1	name
14699709	CV625465	single nucleotide variant	NM_000166.6(GJB1):c.50C>A (p.Ser17Tyr)	Charcot-Marie-Tooth disease [RCV000789194]	uncertain significance	X	71223757	71223757	Human	1	name
14700465	CV625466	single nucleotide variant	NM_000166.6(GJB1):c.59T>A (p.Ile20Asn)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447306]\|Charcot-Marie-Tooth disease [RCV000790298]	uncertain significance	X	71223766	71223766	Human	2	name
14699694	CV625467	single nucleotide variant	NM_000166.6(GJB1):c.59T>G (p.Ile20Ser)	Charcot-Marie-Tooth disease [RCV000789174]	uncertain significance	X	71223766	71223766	Human	1	name
14700466	CV625468	single nucleotide variant	NM_000166.6(GJB1):c.61G>A (p.Gly21Ser)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447307]\|Charcot-Marie-Tooth disease [RCV000790299]	uncertain significance	X	71223768	71223768	Human	2	name
14699695	CV625470	single nucleotide variant	NM_000166.6(GJB1):c.62G>A (p.Gly21Asp)	Charcot-Marie-Tooth disease [RCV000789175]	uncertain significance	X	71223769	71223769	Human	1	name
14699788	CV625471	single nucleotide variant	NM_000166.6(GJB1):c.62G>T (p.Gly21Val)	Charcot-Marie-Tooth disease [RCV000789294]	uncertain significance	X	71223769	71223769	Human	1	name
14700221	CV625472	single nucleotide variant	NM_000166.6(GJB1):c.64C>G (p.Arg22Gly)	Charcot-Marie-Tooth disease [RCV000789932]	uncertain significance	X	71223771	71223771	Human	1	name
14700222	CV625473	single nucleotide variant	NM_000166.6(GJB1):c.65G>C (p.Arg22Pro)	Charcot-Marie-Tooth disease [RCV000789933]	uncertain significance	X	71223772	71223772	Human	1	name
14700141	CV625474	single nucleotide variant	NM_000166.6(GJB1):c.68T>C (p.Val23Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001056787]\|Charcot-Marie-Tooth disease [RCV000789834]	pathogenic\|uncertain significance	X	71223775	71223775	Human	2	name
14699789	CV625475	single nucleotide variant	NM_000166.6(GJB1):c.70T>C (p.Trp24Arg)	Charcot-Marie-Tooth disease [RCV000789295]	uncertain significance	X	71223777	71223777	Human	1	name
14699752	CV625476	single nucleotide variant	NM_000166.6(GJB1):c.72G>T (p.Trp24Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001370664]\|Charcot-Marie-Tooth disease [RCV000789252]	likely pathogenic\|uncertain significance	X	71223779	71223779	Human	2	name
14699764	CV625477	single nucleotide variant	NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001253613]\|Charcot-Marie-Tooth disease [RCV000789266]	likely pathogenic\|uncertain significance	X	71223780	71223780	Human	2	name
14700204	CV625478	single nucleotide variant	NM_000166.6(GJB1):c.74T>C (p.Leu25Pro)	Charcot-Marie-Tooth disease [RCV000789912]	uncertain significance	X	71223781	71223781	Human	1	name
14699768	CV625480	single nucleotide variant	NM_000166.6(GJB1):c.77C>A (p.Ser26Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447217]\|Charcot-Marie-Tooth disease [RCV000789270]	uncertain significance	X	71223784	71223784	Human	2	name
14700116	CV625481	single nucleotide variant	NM_000166.6(GJB1):c.80T>C (p.Val27Ala)	Charcot-Marie-Tooth disease [RCV000789798]	uncertain significance	X	71223787	71223787	Human	1	name
14699985	CV625483	single nucleotide variant	NM_000166.6(GJB1):c.85T>C (p.Phe29Leu)	Charcot-Marie-Tooth Neuropathy X [RCV005092373]\|Charcot-Marie-Tooth disease [RCV000789601]	uncertain significance	X	71223792	71223792	Human	2	name
14699778	CV625484	single nucleotide variant	NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001061206]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447219]\|Charcot-Marie-Tooth disease [RCV000789282]	pathogenic\|uncertain significance	X	71223796	71223796	Human	3	name
14700170	CV625485	single nucleotide variant	NM_000166.6(GJB1):c.94A>G (p.Arg32Gly)	Charcot-Marie-Tooth disease [RCV000789874]	uncertain significance	X	71223801	71223801	Human	1	name
14700190	CV625486	single nucleotide variant	NM_000166.6(GJB1):c.98T>A (p.Ile33Asn)	Charcot-Marie-Tooth disease [RCV000789897]	uncertain significance	X	71223805	71223805	Human	1	name
14699759	CV625491	deletion	NM_000166.6(GJB1):c.110del (p.Val37fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447215]\|Charcot-Marie-Tooth disease [RCV000789260]	uncertain significance	X	71223817	71223817	Human	2	name
14700422	CV625493	deletion	NM_000166.6(GJB1):c.115del (p.Ala39fs)	Charcot-Marie-Tooth disease [RCV000790232]	uncertain significance	X	71223821	71223821	Human	1	name
14699716	CV625496	deletion	NM_000166.6(GJB1):c.116del (p.Ala39fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447202]\|Charcot-Marie-Tooth disease [RCV000789202]	uncertain significance	X	71223823	71223823	Human	2	name
14700202	CV625510	deletion	NM_000166.6(GJB1):c.155del (p.Ile52fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447289]\|Charcot-Marie-Tooth disease [RCV000789910]	uncertain significance	X	71223862	71223862	Human	2	name
14700463	CV625530	duplication	NM_000166.6(GJB1):c.210dup (p.Ile71fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447304]\|Charcot-Marie-Tooth disease [RCV000790296]	uncertain significance	X	71223913	71223914	Human	2	name
14700149	CV625534	deletion	NM_000166.6(GJB1):c.217del (p.His73fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447276]\|Charcot-Marie-Tooth disease [RCV000789846]	uncertain significance	X	71223922	71223922	Human	2	name
14700424	CV625611	single nucleotide variant	NM_000166.6(GJB1):c.441C>T (p.Ala147=)	Charcot-Marie-Tooth Neuropathy X [RCV000862224]\|Charcot-Marie-Tooth disease [RCV001174169]\|not specified [RCV000790234]	benign\|likely benign	X	71224148	71224148	Human	2	name
14700425	CV625621	single nucleotide variant	NM_000166.6(GJB1):c.462T>C (p.Tyr154=)	Charcot-Marie-Tooth Neuropathy X [RCV002067389]\|Charcot-Marie-Tooth disease [RCV000790235]	likely benign\|uncertain significance	X	71224169	71224169	Human	2	name
14700427	CV625677	single nucleotide variant	NM_000166.6(GJB1):c.594T>A (p.Ser198=)	not specified [RCV000790238]	uncertain significance	X	71224301	71224301	Human		name
14708219	CV656797	single nucleotide variant	NM_000166.6(GJB1):c.318A>G (p.Leu106=)	Charcot-Marie-Tooth Neuropathy X [RCV001086802]\|Charcot-Marie-Tooth disease [RCV001271689]\|GJB1-related disorder [RCV003955541]\|not provided [RCV000827079]\|not specified [RCV005240630]	benign\|likely benign\|uncertain significance	X	71224025	71224025	Human	3	name , trait , alternate_id
15130527	CV685031	single nucleotide variant	NM_000166.6(GJB1):c.627G>T (p.Val209=)	Charcot-Marie-Tooth Neuropathy X [RCV000863448]\|Charcot-Marie-Tooth disease [RCV001174168]\|GJB1-related disorder [RCV004754585]\|not specified [RCV005418372]	benign\|likely benign	X	71224334	71224334	Human	3	name , trait , alternate_id
15105198	CV689550	single nucleotide variant	NM_000166.6(GJB1):c.768T>C (p.Asp256=)	Charcot-Marie-Tooth Neuropathy X [RCV000871042]	likely benign	X	71224475	71224475	Human	1	name
15145210	CV689551	single nucleotide variant	NM_000166.6(GJB1):c.807C>T (p.Thr269=)	Charcot-Marie-Tooth Neuropathy X [RCV001466590]\|Charcot-Marie-Tooth disease [RCV001174165]	likely benign	X	71224514	71224514	Human	2	name
15135548	CV694928	single nucleotide variant	NM_000166.6(GJB1):c.483C>T (p.Ala161=)	Charcot-Marie-Tooth Neuropathy X [RCV001501325]	likely benign	X	71224190	71224190	Human	1	name
15178018	CV774196	single nucleotide variant	NM_000166.6(GJB1):c.540C>T (p.Phe180=)	Charcot-Marie-Tooth Neuropathy X [RCV000929294]\|Charcot-Marie-Tooth disease [RCV001271690]	benign\|uncertain significance	X	71224247	71224247	Human	2	name
15111355	CV786902	single nucleotide variant	NM_000166.6(GJB1):c.414C>T (p.Ser138=)	Charcot-Marie-Tooth Neuropathy X [RCV001499340]	likely benign	X	71224121	71224121	Human	1	name
26889949	CV850241	single nucleotide variant	NM_000166.6(GJB1):c.42C>G (p.Asn14Lys)	Charcot-Marie-Tooth Neuropathy X [RCV001058722]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001310077]	likely pathogenic\|uncertain significance	X	71223749	71223749	Human	2	name
26921760	CV850243	single nucleotide variant	NM_000166.6(GJB1):c.91T>C (p.Phe31Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001050682]	uncertain significance	X	71223798	71223798	Human	1	name
34890103	CV905519	single nucleotide variant	NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)	Charcot-Marie-Tooth Neuropathy X [RCV002559664]\|Charcot-Marie-Tooth disease [RCV001173557]	likely pathogenic	X	71223779	71223779	Human	2	name
34890107	CV905521	single nucleotide variant	NM_000166.6(GJB1):c.573C>T (p.Thr191=)	Charcot-Marie-Tooth Neuropathy X [RCV001485087]\|Charcot-Marie-Tooth disease [RCV001173559]	likely benign\|uncertain significance	X	71224280	71224280	Human	2	name
126759552	CV1015056	single nucleotide variant	NM_000166.6(GJB1):c.215C>G (p.Ser72Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001318088]	uncertain significance	X	71223922	71223922	Human	1	name
126741336	CV1019056	single nucleotide variant	NM_000166.6(GJB1):c.292C>T (p.Gln98Ter)	Charcot-Marie-Tooth Neuropathy X [RCV005094410]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001329667]	pathogenic	X	71223999	71223999	Human	2	name
8574278	CV102962	single nucleotide variant	NM_000166.6(GJB1):c.172C>T (p.Pro58Ser)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000083303]	pathogenic	X	71223879	71223879	Human	1	name
126747218	CV1035622	single nucleotide variant	NM_000166.6(GJB1):c.106C>G (p.Leu36Val)	Charcot-Marie-Tooth Neuropathy X [RCV001351639]\|Charcot-Marie-Tooth disease [RCV001825975]	uncertain significance	X	71223813	71223813	Human	2	name
126915000	CV1052529	single nucleotide variant	NM_000166.6(GJB1):c.215C>T (p.Ser72Phe)	Charcot-Marie-Tooth Neuropathy X [RCV001370665]\|not provided [RCV003328677]	likely pathogenic\|uncertain significance	X	71223922	71223922	Human	1	name
150432441	CV1246292	single nucleotide variant	NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)	Charcot-Marie-Tooth Neuropathy X [RCV002032656]\|not provided [RCV001663705]	uncertain significance	X	71223899	71223899	Human	1	name
151235430	CV1318744	single nucleotide variant	NM_000166.6(GJB1):c.268C>T (p.Leu90Phe)	Charcot-Marie-Tooth Neuropathy X [RCV003581806]\|GJB1-related disorder [RCV004552025]\|Inborn genetic diseases [RCV002458610]\|not provided [RCV002305623]	likely pathogenic\|uncertain significance	X	71223975	71223975	Human	3	name , trait , alternate_id
151349660	CV1321551	single nucleotide variant	NM_000166.6(GJB1):c.287C>T (p.Ala96Val)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001802533]	uncertain significance	X	71223994	71223994	Human	1	name
151349169	CV1324365	single nucleotide variant	NM_000166.6(GJB1):c.190T>C (p.Cys64Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001808282]	likely pathogenic	X	71223897	71223897	Human		name
151662624	CV1330534	duplication	NM_000166.6(GJB1):c.318dup (p.Arg107fs)	Hand muscle atrophy [RCV001824097]	likely pathogenic	X	71224024	71224025	Human	1	name
151778035	CV1342786	single nucleotide variant	NM_000166.6(GJB1):c.153C>A (p.Phe51Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001988871]	likely pathogenic	X	71223860	71223860	Human	1	name
151786442	CV1348919	single nucleotide variant	NM_000166.6(GJB1):c.166C>G (p.Leu56Val)	Charcot-Marie-Tooth Neuropathy X [RCV001897741]	uncertain significance	X	71223873	71223873	Human	1	name
151768512	CV1367464	single nucleotide variant	NM_000166.6(GJB1):c.287C>G (p.Ala96Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001863851]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003336450]	pathogenic\|likely pathogenic	X	71223994	71223994	Human	2	name
151749957	CV1377397	single nucleotide variant	NM_000166.6(GJB1):c.245T>A (p.Ile82Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001948041]	uncertain significance	X	71223952	71223952	Human	1	name
151763878	CV1447575	single nucleotide variant	NM_000166.6(GJB1):c.220G>C (p.Val74Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001895649]	uncertain significance	X	71223927	71223927	Human	1	name
151792889	CV1482540	single nucleotide variant	NM_000166.6(GJB1):c.194A>C (p.Tyr65Ser)	Charcot-Marie-Tooth Neuropathy X [RCV002047272]	uncertain significance	X	71223901	71223901	Human	1	name
151873483	CV1493250	deletion	NM_000166.6(GJB1):c.484del (p.Met162fs)	Charcot-Marie-Tooth Neuropathy X [RCV001906781]	pathogenic	X	71224191	71224191	Human	1	name
151785717	CV1493975	deletion	NM_000166.6(GJB1):c.622del (p.Glu208fs)	Charcot-Marie-Tooth Neuropathy X [RCV001951516]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447328]	pathogenic\|likely pathogenic\|uncertain significance	X	71224329	71224329	Human	2	name
151875511	CV1507894	single nucleotide variant	NM_000166.6(GJB1):c.137A>T (p.Asp46Val)	Charcot-Marie-Tooth Neuropathy X [RCV001960990]	uncertain significance	X	71223844	71223844	Human	1	name
151733487	CV1512434	single nucleotide variant	NM_000166.6(GJB1):c.290A>G (p.His97Arg)	Charcot-Marie-Tooth Neuropathy X [RCV002021539]	uncertain significance	X	71223997	71223997	Human	1	name
151888600	CV1512867	single nucleotide variant	NM_000166.6(GJB1):c.211A>G (p.Ile71Val)	Charcot-Marie-Tooth Neuropathy X [RCV001887999]	uncertain significance	X	71223918	71223918	Human	1	name
9586757	CV165478	single nucleotide variant	NM_000166.6(GJB1):c.259C>G (p.Pro87Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001042343]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000143793]	pathogenic	X	71223966	71223966	Human	2	name
10041279	CV186290	single nucleotide variant	NM_000166.6(GJB1):c.116C>T (p.Ala39Val)	Charcot-Marie-Tooth Neuropathy X [RCV000168011]\|Charcot-Marie-Tooth disease [RCV000789271]\|not provided [RCV004998361]	pathogenic\|uncertain significance	X	71223823	71223823	Human	2	name
155802217	CV1864294	single nucleotide variant	NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)	not provided [RCV002475247]	uncertain significance	X	71223883	71223883	Human		name
156412410	CV1890565	single nucleotide variant	NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)	Charcot-Marie-Tooth Neuropathy X [RCV003072880]\|GJB1-related disorder [RCV003404070]	likely pathogenic\|uncertain significance	X	71223843	71223843	Human	2	name , trait , alternate_id
10048090	CV192187	single nucleotide variant	NM_000166.6(GJB1):c.271G>A (p.Val91Met)	Charcot-Marie-Tooth Neuropathy X [RCV000461635]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001249761]\|not provided [RCV000175537]	pathogenic\|likely pathogenic	X	71223978	71223978	Human	2	name
156435884	CV1937213	single nucleotide variant	NM_000166.6(GJB1):c.148T>G (p.Ser50Ala)	Charcot-Marie-Tooth Neuropathy X [RCV003105078]\|not specified [RCV005419592]	uncertain significance	X	71223855	71223855	Human	1	name
156352131	CV1978531	single nucleotide variant	NM_000166.6(GJB1):c.124A>G (p.Ser42Gly)	Charcot-Marie-Tooth Neuropathy X [RCV002601901]	uncertain significance	X	71223831	71223831	Human	1	name
156011700	CV2075661	single nucleotide variant	NM_000166.6(GJB1):c.184A>C (p.Ser62Arg)	Charcot-Marie-Tooth Neuropathy X [RCV002843908]	pathogenic	X	71223891	71223891	Human	1	name
155902331	CV2083903	single nucleotide variant	NM_000166.6(GJB1):c.133G>C (p.Gly45Arg)	Charcot-Marie-Tooth Neuropathy X [RCV002857937]	uncertain significance	X	71223840	71223840	Human	1	name
155911922	CV2085019	single nucleotide variant	NM_000166.6(GJB1):c.192C>A (p.Cys64Ter)	Charcot-Marie-Tooth Neuropathy X [RCV002858558]	pathogenic	X	71223899	71223899	Human	1	name
155963315	CV2089240	single nucleotide variant	NM_000166.6(GJB1):c.186C>A (p.Ser62Arg)	Charcot-Marie-Tooth Neuropathy X [RCV002881128]	pathogenic	X	71223893	71223893	Human	1	name
10405903	CV213499	single nucleotide variant	NM_000166.6(GJB1):c.113T>G (p.Val38Gly)	Charcot-Marie-Tooth Neuropathy X [RCV000199414]\|not provided [RCV000235965]	likely pathogenic\|uncertain significance	X	71223820	71223820	Human	1	name
10406021	CV213500	single nucleotide variant	NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)	Charcot-Marie-Tooth Neuropathy X [RCV000200595]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005252809]\|Charcot-Marie-Tooth disease [RCV000789860]	likely pathogenic\|uncertain significance	X	71223870	71223870	Human	3	name
10408961	CV213892	single nucleotide variant	NM_000166.6(GJB1):c.224G>A (p.Arg75Gln)	Charcot-Marie-Tooth Neuropathy X [RCV000691748]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000201183]\|Charcot-Marie-Tooth disease [RCV001276388]\|not provided [RCV001567461]	pathogenic	X	71223931	71223931	Human	3	name
156020607	CV2174156	duplication	NM_000166.6(GJB1):c.562dup (p.Thr188fs)	Charcot-Marie-Tooth Neuropathy X [RCV003035711]	pathogenic	X	71224265	71224266	Human	1	name
156129665	CV2184962	single nucleotide variant	NM_000166.6(GJB1):c.240G>T (p.Gln80His)	Charcot-Marie-Tooth Neuropathy X [RCV003039646]	uncertain significance	X	71223947	71223947	Human	1	name
11092429	CV232153	single nucleotide variant	NM_000166.6(GJB1):c.241C>G (p.Leu81Val)	not provided [RCV000218526]	likely pathogenic	X	71223948	71223948	Human		name
11094187	CV232161	single nucleotide variant	NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000471605]\|Inborn genetic diseases [RCV002390590]\|not provided [RCV000220727]	pathogenic\|likely pathogenic\|uncertain significance	X	71223858	71223858	Human	2	name
243052236	CV2417795	single nucleotide variant	NM_000166.6(GJB1):c.272T>A (p.Val91Glu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003152859]	likely pathogenic	X	71223979	71223979	Human	1	name
11351873	CV243822	single nucleotide variant	NM_000166.6(GJB1):c.208C>G (p.Pro70Ala)	Charcot-Marie-Tooth Neuropathy X [RCV000231475]\|Charcot-Marie-Tooth disease [RCV000789229]\|Inborn genetic diseases [RCV004020742]\|not provided [RCV000484101]	pathogenic\|likely pathogenic\|uncertain significance	X	71223915	71223915	Human	3	name
11523252	CV245179	single nucleotide variant	NM_000166.6(GJB1):c.112G>A (p.Val38Met)	Charcot-Marie-Tooth Neuropathy X [RCV000793260]\|Charcot-Marie-Tooth disease [RCV000789918]\|Inborn genetic diseases [RCV004020923]\|not provided [RCV000235629]	pathogenic\|likely pathogenic\|uncertain significance	X	71223819	71223819	Human	3	name
11523216	CV245180	single nucleotide variant	NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001068519]\|Charcot-Marie-Tooth disease [RCV000789296]\|not provided [RCV000235491]	likely pathogenic\|uncertain significance	X	71223839	71223839	Human	2	name
11523063	CV245181	single nucleotide variant	NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001388434]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447129]\|Charcot-Marie-Tooth disease [RCV000789171]\|not provided [RCV000235279]	pathogenic\|uncertain significance	X	71223938	71223938	Human	3	name
11523383	CV245182	single nucleotide variant	NM_000166.6(GJB1):c.239A>G (p.Gln80Arg)	Charcot-Marie-Tooth Neuropathy X [RCV000466555]\|Charcot-Marie-Tooth disease [RCV000789226]\|Inborn genetic diseases [RCV002450732]\|not provided [RCV000235814]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71223946	71223946	Human	3	name
11523696	CV245183	single nucleotide variant	NM_000166.6(GJB1):c.282C>A (p.His94Gln)	Charcot-Marie-Tooth Neuropathy X [RCV001854850]\|Charcot-Marie-Tooth disease [RCV000789853]\|not provided [RCV000236380]	pathogenic\|likely pathogenic\|uncertain significance	X	71223989	71223989	Human	2	name
11523769	CV245185	deletion	NM_000166.6(GJB1):c.396del (p.Trp132fs)	Charcot-Marie-Tooth Neuropathy X [RCV001234751]\|not provided [RCV000236340]	pathogenic	X	71224102	71224102	Human	1	name
8598500	CV25477	single nucleotide variant	NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001245963]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011183]\|not provided [RCV001659691]	pathogenic	X	71223901	71223901	Human	2	name
8598502	CV25480	single nucleotide variant	NM_000166.6(GJB1):c.283G>A (p.Val95Met)	Charcot-Marie-Tooth Neuropathy X [RCV000168221]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011186]\|Charcot-Marie-Tooth disease [RCV000789817]\|Inborn genetic diseases [RCV002433451]\|not provided [RCV000235924]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71223990	71223990	Human	4	name
8598504	CV25483	single nucleotide variant	NM_000166.6(GJB1):c.254C>G (p.Ser85Cys)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011189]\|Charcot-Marie-Tooth disease [RCV000789235]\|not provided [RCV005420515]	pathogenic\|uncertain significance	X	71223961	71223961	Human	2	name
8598505	CV25485	single nucleotide variant	NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001851787]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011191]\|Charcot-Marie-Tooth disease [RCV000789872]\|not provided [RCV000486043]	pathogenic\|likely pathogenic\|uncertain significance	X	71223871	71223871	Human	3	name
401944511	CV2831807	single nucleotide variant	NM_000166.6(GJB1):c.272T>C (p.Val91Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003445450]	likely pathogenic	X	71223979	71223979	Human	1	name
405082679	CV2858740	deletion	NM_000166.6(GJB1):c.450del (p.Met150fs)	Charcot-Marie-Tooth Neuropathy X [RCV003582224]\|Inborn genetic diseases [RCV004366480]	pathogenic	X	71224157	71224157	Human	2	name
405080031	CV2863818	deletion	NM_000166.6(GJB1):c.507del (p.Asp169fs)	Charcot-Marie-Tooth Neuropathy X [RCV003581953]	pathogenic	X	71224214	71224214	Human	1	name
405084507	CV2867074	single nucleotide variant	NM_000166.6(GJB1):c.183C>G (p.Asn61Lys)	Charcot-Marie-Tooth Neuropathy X [RCV003582371]	uncertain significance	X	71223890	71223890	Human	1	name
405077824	CV2901934	single nucleotide variant	NM_000166.6(GJB1):c.212T>C (p.Ile71Thr)	Charcot-Marie-Tooth Neuropathy X [RCV003581476]	likely pathogenic	X	71223919	71223919	Human	1	name
405091985	CV2909803	single nucleotide variant	NM_000166.6(GJB1):c.197A>G (p.Asp66Gly)	Charcot-Marie-Tooth Neuropathy X [RCV003582931]	uncertain significance	X	71223904	71223904	Human	1	name
405090651	CV2913140	single nucleotide variant	NM_000166.6(GJB1):c.244A>C (p.Ile82Leu)	Charcot-Marie-Tooth Neuropathy X [RCV003582851]	uncertain significance	X	71223951	71223951	Human	1	name
405081115	CV2933188	deletion	NM_000166.6(GJB1):c.435del (p.Phe145fs)	Charcot-Marie-Tooth Neuropathy X [RCV003582049]	pathogenic	X	71224140	71224140	Human	1	name
405062420	CV2964891	single nucleotide variant	NM_000166.6(GJB1):c.158G>T (p.Cys53Phe)	Charcot-Marie-Tooth Neuropathy X [RCV003741687]	uncertain significance	X	71223865	71223865	Human	1	name
405062965	CV2965575	single nucleotide variant	NM_000166.6(GJB1):c.269T>G (p.Leu90Arg)	Charcot-Marie-Tooth Neuropathy X [RCV003741732]	uncertain significance	X	71223976	71223976	Human	1	name
405063423	CV2970048	single nucleotide variant	NM_000166.6(GJB1):c.206T>G (p.Phe69Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003741775]	uncertain significance	X	71223913	71223913	Human	1	name
405065445	CV2997615	single nucleotide variant	NM_000166.6(GJB1):c.110T>A (p.Val37Glu)	Charcot-Marie-Tooth Neuropathy X [RCV003741942]	uncertain significance	X	71223817	71223817	Human	1	name
405068371	CV3006055	single nucleotide variant	NM_000166.6(GJB1):c.231G>T (p.Trp77Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003742166]	uncertain significance	X	71223938	71223938	Human	1	name
405067625	CV3011608	single nucleotide variant	NM_000166.6(GJB1):c.131G>A (p.Trp44Ter)	Charcot-Marie-Tooth Neuropathy X [RCV003742107]	pathogenic	X	71223838	71223838	Human	1	name
405067908	CV3012349	duplication	NM_000166.6(GJB1):c.345dup (p.His116fs)	Charcot-Marie-Tooth Neuropathy X [RCV003742128]	pathogenic	X	71224051	71224052	Human	1	name
405067587	CV3014813	single nucleotide variant	NM_000166.6(GJB1):c.115G>A (p.Ala39Thr)	Charcot-Marie-Tooth Neuropathy X [RCV003742104]	uncertain significance	X	71223822	71223822	Human	1	name
405070470	CV3019207	single nucleotide variant	NM_000166.6(GJB1):c.198C>G (p.Asp66Glu)	Charcot-Marie-Tooth Neuropathy X [RCV003742331]	uncertain significance	X	71223905	71223905	Human	1	name
405128856	CV3132942	single nucleotide variant	NM_000166.6(GJB1):c.185G>C (p.Ser62Thr)	Charcot-Marie-Tooth Neuropathy X [RCV003838105]	uncertain significance	X	71223892	71223892	Human	1	name
405854457	CV3393064	single nucleotide variant	NM_000166.6(GJB1):c.247C>G (p.Leu83Val)	not specified [RCV004527221]	uncertain significance	X	71223954	71223954	Human		name
8601014	CV33931	single nucleotide variant	NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020169]\|Charcot-Marie-Tooth disease [RCV000789264]	pathogenic\|uncertain significance\|not provided	X	71223830	71223830	Human	2	name
8601015	CV33932	single nucleotide variant	NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020170]\|Charcot-Marie-Tooth disease [RCV000789951]	pathogenic\|uncertain significance\|not provided	X	71223852	71223852	Human	2	name
8601016	CV33933	single nucleotide variant	NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001064548]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020171]\|Charcot-Marie-Tooth disease [RCV000789665]\|not provided [RCV000217618]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	X	71223894	71223894	Human	3	name
8601017	CV33934	single nucleotide variant	NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000654844]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020172]\|Charcot-Marie-Tooth disease [RCV000789309]\|Inborn genetic diseases [RCV002426512]\|not provided [RCV000236563]	pathogenic\|likely pathogenic\|uncertain significance	X	71223930	71223930	Human	4	name
407574704	CV3499691	single nucleotide variant	NM_000166.6(GJB1):c.260C>G (p.Pro87Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004720209]	likely pathogenic	X	71223967	71223967	Human	1	name
408365254	CV3500670	single nucleotide variant	NM_000166.6(GJB1):c.219T>A (p.His73Gln)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004720679]	uncertain significance	X	71223926	71223926	Human	1	name
596926650	CV3542348	single nucleotide variant	NM_000166.6(GJB1):c.136G>C (p.Asp46His)	Charcot-Marie-Tooth Neuropathy X [RCV005105132]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004796563]	likely pathogenic\|uncertain significance	X	71223843	71223843	Human	2	name
12741873	CV361105	single nucleotide variant	NM_000166.6(GJB1):c.109G>T (p.Val37Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000797143]\|Charcot-Marie-Tooth disease [RCV000789238]\|Reduced tendon reflexes [RCV000415308]\|not provided [RCV000991852]	pathogenic\|likely pathogenic\|uncertain significance	X	71223816	71223816	Human	11	name
597846135	CV3786644	single nucleotide variant	NM_000166.6(GJB1):c.157T>G (p.Cys53Gly)	Charcot-Marie-Tooth Neuropathy X [RCV005121735]	uncertain significance	X	71223864	71223864	Human	1	name
597910496	CV3837472	single nucleotide variant	NM_000166.6(GJB1):c.211A>T (p.Ile71Phe)	Charcot-Marie-Tooth Neuropathy X [RCV005185630]	uncertain significance	X	71223918	71223918	Human	1	name
597928776	CV3853571	single nucleotide variant	NM_000166.6(GJB1):c.204C>A (p.Phe68Leu)	Charcot-Marie-Tooth Neuropathy X [RCV005203050]	uncertain significance	X	71223911	71223911	Human	1	name
597928782	CV3853573	single nucleotide variant	NM_000166.6(GJB1):c.173C>T (p.Pro58Leu)	Charcot-Marie-Tooth Neuropathy X [RCV005203052]	likely pathogenic	X	71223880	71223880	Human	1	name
12886567	CV404290	single nucleotide variant	NM_000166.6(GJB1):c.101T>C (p.Met34Thr)	Charcot-Marie-Tooth Neuropathy X [RCV000467465]\|Charcot-Marie-Tooth disease [RCV000789955]\|GJB1-related disorder [RCV003401459]	pathogenic\|uncertain significance	X	71223808	71223808	Human	3	name , trait , alternate_id
12891525	CV404292	duplication	NM_000166.6(GJB1):c.343dup (p.Leu115fs)	Charcot-Marie-Tooth Neuropathy X [RCV000476759]	pathogenic	X	71224045	71224046	Human	1	name
12880770	CV404304	single nucleotide variant	NM_000166.6(GJB1):c.178T>C (p.Cys60Arg)	Charcot-Marie-Tooth Neuropathy X [RCV000456635]\|not provided [RCV000493246]	pathogenic\|likely pathogenic\|uncertain significance	X	71223885	71223885	Human	1	name
12887079	CV404595	single nucleotide variant	NM_000166.6(GJB1):c.102G>A (p.Met34Ile)	Charcot-Marie-Tooth Neuropathy X [RCV000468413]	likely pathogenic	X	71223809	71223809	Human	1	name
12913220	CV422510	single nucleotide variant	NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001856974]\|Charcot-Marie-Tooth disease [RCV000789248]\|not provided [RCV000493545]\|not specified [RCV000518090]	likely pathogenic\|uncertain significance	X	71223855	71223855	Human	2	name
13477318	CV442442	single nucleotide variant	NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)	Charcot-Marie-Tooth Neuropathy X [RCV000654839]\|Charcot-Marie-Tooth disease [RCV000789852]\|not provided [RCV000516335]	likely pathogenic\|uncertain significance	X	71223882	71223882	Human	2	name
13469709	CV442443	single nucleotide variant	NM_000166.6(GJB1):c.266T>C (p.Leu89Pro)	Charcot-Marie-Tooth Neuropathy X [RCV000552811]\|Charcot-Marie-Tooth disease [RCV000789233]\|not provided [RCV000516283]	pathogenic\|uncertain significance	X	71223973	71223973	Human	2	name
13480194	CV442444	single nucleotide variant	NM_000166.6(GJB1):c.271G>C (p.Val91Leu)	Charcot-Marie-Tooth Neuropathy X [RCV005091182]\|Charcot-Marie-Tooth disease [RCV000789904]\|not specified [RCV000517198]	uncertain significance	X	71223978	71223978	Human	2	name
13504158	CV472200	single nucleotide variant	NM_000166.6(GJB1):c.230G>T (p.Trp77Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000527885]	uncertain significance	X	71223937	71223937	Human	1	name
13464519	CV472201	single nucleotide variant	NM_000166.6(GJB1):c.242T>A (p.Leu81His)	Charcot-Marie-Tooth Neuropathy X [RCV000542596]	uncertain significance	X	71223949	71223949	Human	1	name
13626450	CV534953	single nucleotide variant	NM_000166.6(GJB1):c.128T>A (p.Val43Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000654835]	uncertain significance	X	71223835	71223835	Human	1	name
13626451	CV534954	single nucleotide variant	NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV000654836]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447152]\|Charcot-Marie-Tooth disease [RCV000789055]	likely pathogenic\|uncertain significance	X	71223886	71223886	Human	3	name
13626456	CV535193	single nucleotide variant	NM_000166.6(GJB1):c.163A>C (p.Thr55Pro)	Charcot-Marie-Tooth Neuropathy X [RCV000654843]	uncertain significance	X	71223870	71223870	Human	1	name
13803410	CV572569	single nucleotide variant	NM_000166.6(GJB1):c.232T>G (p.Ser78Ala)	Charcot-Marie-Tooth Neuropathy X [RCV000684885]	uncertain significance	X	71223939	71223939	Human	1	name
13803548	CV573989	single nucleotide variant	NM_000166.6(GJB1):c.100A>G (p.Met34Val)	Charcot-Marie-Tooth Neuropathy X [RCV000684965]\|Charcot-Marie-Tooth disease [RCV000789244]\|not provided [RCV001172018]	pathogenic\|uncertain significance	X	71223807	71223807	Human	2	name
13807718	CV574883	duplication	NM_000166.6(GJB1):c.524dup (p.Asn175fs)	Charcot-Marie-Tooth Neuropathy X [RCV000688157]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447155]\|Charcot-Marie-Tooth disease [RCV000789813]\|not provided [RCV000711358]	pathogenic\|uncertain significance	X	71224229	71224230	Human	3	name
13809080	CV577978	deletion	NM_000166.6(GJB1):c.319del (p.Arg107fs)	not provided [RCV000711356]	pathogenic	X	71224026	71224026	Human		name
13809085	CV577979	deletion	NM_000166.6(GJB1):c.602del (p.Cys201fs)	not provided [RCV000711359]	likely pathogenic	X	71224309	71224309	Human		name
13809090	CV577981	duplication	NM_000166.6(GJB1):c.842dup (p.Ala282fs)	not provided [RCV000711362]	likely pathogenic	X	71224548	71224549	Human		name
14700192	CV625487	single nucleotide variant	NM_000166.6(GJB1):c.101T>A (p.Met34Lys)	Charcot-Marie-Tooth disease [RCV000789899]	uncertain significance	X	71223808	71223808	Human	1	name
14700139	CV625488	single nucleotide variant	NM_000166.6(GJB1):c.103G>A (p.Val35Met)	Charcot-Marie-Tooth Neuropathy X [RCV001069428]\|Charcot-Marie-Tooth disease [RCV000789832]	uncertain significance	X	71223810	71223810	Human	2	name
14700183	CV625489	single nucleotide variant	NM_000166.6(GJB1):c.107T>C (p.Leu36Pro)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005409740]\|Charcot-Marie-Tooth disease [RCV000789889]	likely pathogenic\|uncertain significance	X	71223814	71223814	Human	2	name
14699732	CV625490	single nucleotide variant	NM_000166.6(GJB1):c.109G>A (p.Val37Met)	Charcot-Marie-Tooth disease [RCV000789218]	uncertain significance	X	71223816	71223816	Human	1	name
14699742	CV625492	single nucleotide variant	NM_000166.6(GJB1):c.113T>C (p.Val38Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001856232]\|Charcot-Marie-Tooth disease [RCV000789237]	likely pathogenic\|uncertain significance	X	71223820	71223820	Human	2	name
14700148	CV625495	single nucleotide variant	NM_000166.6(GJB1):c.115G>C (p.Ala39Pro)	Charcot-Marie-Tooth disease [RCV000789845]	uncertain significance	X	71223822	71223822	Human	1	name
14700159	CV625497	single nucleotide variant	NM_000166.6(GJB1):c.116C>G (p.Ala39Gly)	Charcot-Marie-Tooth disease [RCV000789862]	uncertain significance	X	71223823	71223823	Human	1	name
14699761	CV625498	single nucleotide variant	NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001227710]\|Charcot-Marie-Tooth disease [RCV000789262]\|not provided [RCV001662818]	uncertain significance	X	71223825	71223825	Human	2	name
14699763	CV625499	single nucleotide variant	NM_000166.6(GJB1):c.119C>T (p.Ala40Val)	Charcot-Marie-Tooth Neuropathy X [RCV001040086]\|Charcot-Marie-Tooth disease [RCV000789265]	pathogenic\|uncertain significance	X	71223826	71223826	Human	2	name
14699696	CV625501	single nucleotide variant	NM_000166.6(GJB1):c.121G>A (p.Glu41Lys)	Charcot-Marie-Tooth Neuropathy X [RCV001038865]\|Charcot-Marie-Tooth disease [RCV000789178]	uncertain significance	X	71223828	71223828	Human	2	name
14700113	CV625502	single nucleotide variant	NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002249493]\|Charcot-Marie-Tooth disease [RCV000789795]	likely pathogenic\|uncertain significance	X	71223831	71223831	Human	2	name
14699769	CV625503	single nucleotide variant	NM_000166.6(GJB1):c.127G>A (p.Val43Met)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003336185]\|Charcot-Marie-Tooth disease [RCV000789272]	likely pathogenic\|uncertain significance	X	71223834	71223834	Human	2	name
14699697	CV625504	single nucleotide variant	NM_000166.6(GJB1):c.131G>T (p.Trp44Leu)	Charcot-Marie-Tooth disease [RCV000789179]	uncertain significance	X	71223838	71223838	Human	1	name
14700152	CV625505	single nucleotide variant	NM_000166.6(GJB1):c.132G>A (p.Trp44Ter)	Charcot-Marie-Tooth Neuropathy X [RCV003581722]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447278]\|Charcot-Marie-Tooth disease [RCV000789851]	pathogenic\|uncertain significance	X	71223839	71223839	Human	3	name
14700211	CV625506	single nucleotide variant	NM_000166.6(GJB1):c.137A>G (p.Asp46Gly)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003517267]\|Charcot-Marie-Tooth disease [RCV000789920]	likely pathogenic\|uncertain significance	X	71223844	71223844	Human	2	name
14699712	CV625507	single nucleotide variant	NM_000166.6(GJB1):c.140A>G (p.Glu47Gly)	Charcot-Marie-Tooth disease [RCV000789197]	uncertain significance	X	71223847	71223847	Human	1	name
14700239	CV625509	single nucleotide variant	NM_000166.6(GJB1):c.146C>A (p.Ser49Tyr)	Charcot-Marie-Tooth disease [RCV000789957]	uncertain significance	X	71223853	71223853	Human	1	name
14699713	CV625511	single nucleotide variant	NM_000166.6(GJB1):c.157T>A (p.Cys53Ser)	Charcot-Marie-Tooth disease [RCV000789198]	uncertain significance	X	71223864	71223864	Human	1	name
14699790	CV625512	single nucleotide variant	NM_000166.6(GJB1):c.158G>A (p.Cys53Tyr)	Charcot-Marie-Tooth disease [RCV000789297]	uncertain significance	X	71223865	71223865	Human	1	name
14699809	CV625513	single nucleotide variant	NM_000166.6(GJB1):c.158G>C (p.Cys53Ser)	Charcot-Marie-Tooth disease [RCV000789317]	uncertain significance	X	71223865	71223865	Human	1	name
14699753	CV625514	single nucleotide variant	NM_000166.6(GJB1):c.164C>G (p.Thr55Arg)	Charcot-Marie-Tooth disease [RCV000789253]	uncertain significance	X	71223871	71223871	Human	1	name
14699748	CV625515	single nucleotide variant	NM_000166.6(GJB1):c.166C>T (p.Leu56Phe)	Charcot-Marie-Tooth disease [RCV000789246]	uncertain significance	X	71223873	71223873	Human	1	name
14699733	CV625516	single nucleotide variant	NM_000166.6(GJB1):c.171G>C (p.Gln57His)	Charcot-Marie-Tooth disease [RCV000789219]	uncertain significance	X	71223878	71223878	Human	1	name
14699802	CV625517	single nucleotide variant	NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)	Charcot-Marie-Tooth Neuropathy X [RCV003581713]\|Charcot-Marie-Tooth disease [RCV000789310]\|not provided [RCV003480816]	likely pathogenic\|uncertain significance	X	71223880	71223880	Human	2	name
14700156	CV625518	single nucleotide variant	NM_000166.6(GJB1):c.175G>T (p.Gly59Cys)	Charcot-Marie-Tooth disease [RCV000789857]	uncertain significance	X	71223882	71223882	Human	1	name
14700151	CV625519	single nucleotide variant	NM_000166.6(GJB1):c.179G>T (p.Cys60Phe)	Charcot-Marie-Tooth disease [RCV000789849]	uncertain significance	X	71223886	71223886	Human	1	name
14699757	CV625520	single nucleotide variant	NM_000166.6(GJB1):c.186C>G (p.Ser62Arg)	Charcot-Marie-Tooth disease [RCV000789258]	uncertain significance	X	71223893	71223893	Human	1	name
14699710	CV625521	single nucleotide variant	NM_000166.6(GJB1):c.187G>T (p.Val63Phe)	Charcot-Marie-Tooth disease [RCV000789195]	uncertain significance	X	71223894	71223894	Human	1	name
14700164	CV625522	single nucleotide variant	NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV001065214]\|Charcot-Marie-Tooth disease [RCV000789867]	pathogenic\|uncertain significance	X	71223898	71223898	Human	2	name
14700142	CV625523	single nucleotide variant	NM_000166.6(GJB1):c.191G>C (p.Cys64Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001318399]\|Charcot-Marie-Tooth disease [RCV000789835]	uncertain significance	X	71223898	71223898	Human	2	name
14699811	CV625524	single nucleotide variant	NM_000166.6(GJB1):c.191G>T (p.Cys64Phe)	Charcot-Marie-Tooth disease [RCV000789320]	uncertain significance	X	71223898	71223898	Human	1	name
14699784	CV625525	single nucleotide variant	NM_000166.6(GJB1):c.193T>C (p.Tyr65His)	Charcot-Marie-Tooth disease [RCV000789290]	uncertain significance	X	71223900	71223900	Human	1	name
14700118	CV625526	single nucleotide variant	NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001388385]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447273]\|Charcot-Marie-Tooth disease [RCV000789801]	pathogenic\|uncertain significance	X	71223902	71223902	Human	3	name
14700240	CV625527	single nucleotide variant	NM_000166.6(GJB1):c.196G>A (p.Asp66Asn)	Charcot-Marie-Tooth disease [RCV000789958]	uncertain significance	X	71223903	71223903	Human	1	name
14699807	CV625529	single nucleotide variant	NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)	Charcot-Marie-Tooth Neuropathy X [RCV002536914]\|Charcot-Marie-Tooth disease [RCV000789315]	pathogenic\|uncertain significance	X	71223912	71223912	Human	2	name
14700160	CV625531	single nucleotide variant	NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000803734]\|Charcot-Marie-Tooth disease [RCV000789863]\|Inborn genetic diseases [RCV002422675]	pathogenic\|uncertain significance	X	71223915	71223915	Human	3	name
14699806	CV625533	single nucleotide variant	NM_000166.6(GJB1):c.212T>G (p.Ile71Ser)	Charcot-Marie-Tooth disease [RCV000789314]	uncertain significance	X	71223919	71223919	Human	1	name
14699786	CV625535	single nucleotide variant	NM_000166.6(GJB1):c.220G>A (p.Val74Met)	Charcot-Marie-Tooth disease [RCV000789292]	uncertain significance	X	71223927	71223927	Human	1	name
14700137	CV625536	single nucleotide variant	NM_000166.6(GJB1):c.224G>C (p.Arg75Pro)	Charcot-Marie-Tooth disease [RCV000789829]	uncertain significance	X	71223931	71223931	Human	1	name
14700197	CV625537	single nucleotide variant	NM_000166.6(GJB1):c.227T>G (p.Leu76Arg)	Charcot-Marie-Tooth disease [RCV000789905]	uncertain significance	X	71223934	71223934	Human	1	name
14700055	CV625538	single nucleotide variant	NM_000166.6(GJB1):c.230G>C (p.Trp77Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001856240]\|Charcot-Marie-Tooth disease [RCV000789706]	uncertain significance	X	71223937	71223937	Human	2	name
14699791	CV625539	single nucleotide variant	NM_000166.6(GJB1):c.233C>T (p.Ser78Phe)	Charcot-Marie-Tooth disease [RCV000789298]	uncertain significance	X	71223940	71223940	Human	1	name
14700119	CV625541	single nucleotide variant	NM_000166.6(GJB1):c.238C>A (p.Gln80Lys)	Charcot-Marie-Tooth Neuropathy X [RCV000792639]\|Charcot-Marie-Tooth disease [RCV000789802]\|Inborn genetic diseases [RCV002424787]	pathogenic\|uncertain significance	X	71223945	71223945	Human	3	name
14699698	CV625542	single nucleotide variant	NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000819010]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447201]\|Charcot-Marie-Tooth disease [RCV000789180]	pathogenic\|uncertain significance	X	71223945	71223945	Human	3	name
14699770	CV625543	single nucleotide variant	NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)	Charcot-Marie-Tooth Neuropathy X [RCV001869217]\|Charcot-Marie-Tooth disease [RCV000789273]	pathogenic\|likely pathogenic\|uncertain significance	X	71223948	71223948	Human	2	name
14698109	CV625544	single nucleotide variant	NM_000166.6(GJB1):c.244A>G (p.Ile82Val)	Dejerine-Sottas disease [RCV000790305]\|not provided [RCV004773141]	uncertain significance	X	71223951	71223951	Human	1	name
14699812	CV625545	single nucleotide variant	NM_000166.6(GJB1):c.246C>G (p.Ile82Met)	Charcot-Marie-Tooth disease [RCV000789321]	uncertain significance	X	71223953	71223953	Human	1	name
14699771	CV625547	single nucleotide variant	NM_000166.6(GJB1):c.248T>C (p.Leu83Pro)	Charcot-Marie-Tooth disease [RCV000789274]	uncertain significance	X	71223955	71223955	Human	1	name
14699805	CV625548	single nucleotide variant	NM_000166.6(GJB1):c.248T>G (p.Leu83Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001318400]\|Charcot-Marie-Tooth disease [RCV000789313]	uncertain significance	X	71223955	71223955	Human	2	name
14700223	CV625549	single nucleotide variant	NM_000166.6(GJB1):c.250G>A (p.Val84Ile)	Charcot-Marie-Tooth disease [RCV000789934]	uncertain significance	X	71223957	71223957	Human	1	name
14699792	CV625550	single nucleotide variant	NM_000166.6(GJB1):c.251T>G (p.Val84Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001350408]\|Charcot-Marie-Tooth disease [RCV000789299]	uncertain significance	X	71223958	71223958	Human	2	name
14699699	CV625551	single nucleotide variant	NM_000166.6(GJB1):c.254C>T (p.Ser85Phe)	Charcot-Marie-Tooth disease [RCV000789181]	uncertain significance	X	71223961	71223961	Human	1	name
14700230	CV625552	single nucleotide variant	NM_000166.6(GJB1):c.256A>G (p.Thr86Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001823165]\|Charcot-Marie-Tooth disease [RCV000789944]	uncertain significance	X	71223963	71223963	Human	2	name
14699701	CV625553	single nucleotide variant	NM_000166.6(GJB1):c.256A>T (p.Thr86Ser)	Charcot-Marie-Tooth disease [RCV000789183]	uncertain significance	X	71223963	71223963	Human	1	name
14699700	CV625554	single nucleotide variant	NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)	Charcot-Marie-Tooth disease [RCV000789182]\|not provided [RCV003437427]	conflicting interpretations of pathogenicity\|uncertain significance	X	71223964	71223964	Human	1	name
14700172	CV625555	single nucleotide variant	NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001873223]\|Charcot-Marie-Tooth disease [RCV000789876]	likely pathogenic\|uncertain significance	X	71223964	71223964	Human	2	name
14699740	CV625556	single nucleotide variant	NM_000166.6(GJB1):c.259C>T (p.Pro87Ser)	Charcot-Marie-Tooth disease [RCV000789232]	uncertain significance	X	71223966	71223966	Human	1	name
14699702	CV625557	single nucleotide variant	NM_000166.6(GJB1):c.260C>T (p.Pro87Leu)	Charcot-Marie-Tooth disease [RCV000789184]\|not provided [RCV001560355]	pathogenic\|uncertain significance	X	71223967	71223967	Human	1	name
14700193	CV625558	single nucleotide variant	NM_000166.6(GJB1):c.268C>G (p.Leu90Val)	Charcot-Marie-Tooth disease [RCV000789900]	uncertain significance	X	71223975	71223975	Human	1	name
14699749	CV625559	single nucleotide variant	NM_000166.6(GJB1):c.269T>A (p.Leu90His)	Charcot-Marie-Tooth disease [RCV000789247]	uncertain significance	X	71223976	71223976	Human	1	name
14700120	CV625560	single nucleotide variant	NM_000166.6(GJB1):c.272T>G (p.Val91Gly)	Charcot-Marie-Tooth disease [RCV000789803]	uncertain significance	X	71223979	71223979	Human	1	name
14700194	CV625563	single nucleotide variant	NM_000166.6(GJB1):c.277A>G (p.Met93Val)	Charcot-Marie-Tooth Neuropathy X [RCV003581724]\|Charcot-Marie-Tooth disease [RCV000789901]	pathogenic\|uncertain significance	X	71223984	71223984	Human	2	name
14700199	CV625565	single nucleotide variant	NM_000166.6(GJB1):c.278T>A (p.Met93Lys)	Charcot-Marie-Tooth disease [RCV000789907]	uncertain significance	X	71223985	71223985	Human	1	name
14699813	CV625566	single nucleotide variant	NM_000166.6(GJB1):c.278T>G (p.Met93Arg)	Charcot-Marie-Tooth disease [RCV000789322]	uncertain significance	X	71223985	71223985	Human	1	name
14700145	CV625567	single nucleotide variant	NM_000166.6(GJB1):c.280C>G (p.His94Asp)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005251222]\|Charcot-Marie-Tooth disease [RCV000789842]	likely pathogenic\|uncertain significance	X	71223987	71223987	Human	2	name
14700136	CV625568	single nucleotide variant	NM_000166.6(GJB1):c.280C>T (p.His94Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV001377073]\|Charcot-Marie-Tooth disease [RCV000789828]	likely pathogenic\|uncertain significance	X	71223987	71223987	Human	2	name
14700121	CV625569	single nucleotide variant	NM_000166.6(GJB1):c.281A>G (p.His94Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000990863]\|Charcot-Marie-Tooth disease [RCV000789804]	pathogenic\|uncertain significance	X	71223988	71223988	Human	2	name
14700203	CV625570	single nucleotide variant	NM_000166.6(GJB1):c.282C>G (p.His94Gln)	Charcot-Marie-Tooth disease [RCV000789911]	uncertain significance	X	71223989	71223989	Human	1	name
14699793	CV625571	single nucleotide variant	NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001869218]\|Charcot-Marie-Tooth disease [RCV000789300]	pathogenic\|likely pathogenic\|uncertain significance	X	71223993	71223993	Human	2	name
14700219	CV625572	single nucleotide variant	NM_000166.6(GJB1):c.295C>T (p.Gln99Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447295]\|Charcot-Marie-Tooth disease [RCV000789930]	uncertain significance	X	71224002	71224002	Human	2	name
14700423	CV625576	duplication	NM_000166.6(GJB1):c.308dup (p.Lys104fs)	Charcot-Marie-Tooth disease [RCV000790233]	uncertain significance	X	71224013	71224014	Human	1	name
14700157	CV625577	deletion	NM_000166.6(GJB1):c.313del (p.Met105fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447281]\|Charcot-Marie-Tooth disease [RCV000789858]	uncertain significance	X	71224017	71224017	Human	2	name
14699691	CV625585	deletion	NM_000166.6(GJB1):c.371del (p.Lys124fs)	Charcot-Marie-Tooth Neuropathy X [RCV005092369]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447200]\|Charcot-Marie-Tooth disease [RCV000789169]	pathogenic\|uncertain significance	X	71224077	71224077	Human	3	name
14699781	CV625596	deletion	NM_000166.6(GJB1):c.397del (p.Trp133fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447220]\|Charcot-Marie-Tooth disease [RCV000789287]	uncertain significance	X	71224104	71224104	Human	2	name
14700129	CV625600	deletion	NM_000166.6(GJB1):c.410del (p.Ile137fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011185]\|Charcot-Marie-Tooth disease [RCV000789816]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224117	71224117	Human	2	name
14700237	CV625603	deletion	NM_000166.6(GJB1):c.424del (p.Arg142fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447302]\|Charcot-Marie-Tooth disease [RCV000789953]	uncertain significance	X	71224130	71224130	Human	2	name
14700191	CV625609	deletion	NM_000166.6(GJB1):c.439del (p.Ala147fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447288]\|Charcot-Marie-Tooth disease [RCV000789898]	uncertain significance	X	71224145	71224145	Human	2	name
14700176	CV625616	deletion	NM_000166.6(GJB1):c.454del (p.Val152fs)	Charcot-Marie-Tooth Neuropathy X [RCV001856241]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447285]\|Charcot-Marie-Tooth disease [RCV000789882]	pathogenic\|uncertain significance	X	71224161	71224161	Human	3	name
14700205	CV625627	deletion	NM_000166.6(GJB1):c.474del (p.Gly159fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447290]\|Charcot-Marie-Tooth disease [RCV000789913]	uncertain significance	X	71224181	71224181	Human	2	name
14700228	CV625632	duplication	NM_000166.6(GJB1):c.484dup (p.Met162fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447297]\|Charcot-Marie-Tooth disease [RCV000789942]	uncertain significance	X	71224190	71224191	Human	2	name
14699736	CV625667	duplication	NM_000166.6(GJB1):c.556dup (p.Glu186fs)	Charcot-Marie-Tooth Neuropathy X [RCV001869215]\|Charcot-Marie-Tooth disease [RCV000789224]\|not provided [RCV001172020]	pathogenic\|uncertain significance	X	71224262	71224263	Human	2	name
14699756	CV625669	duplication	NM_000166.6(GJB1):c.571dup (p.Thr191fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447213]\|Charcot-Marie-Tooth disease [RCV000789257]	uncertain significance	X	71224277	71224278	Human	2	name
14699725	CV625672	deletion	NM_000166.6(GJB1):c.576del (p.Phe193fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447206]\|Charcot-Marie-Tooth disease [RCV000789211]	pathogenic\|uncertain significance	X	71224283	71224283	Human	2	name
14699796	CV625683	deletion	NM_000166.6(GJB1):c.606del (p.Ile203fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447224]\|Charcot-Marie-Tooth disease [RCV000789303]	uncertain significance	X	71224313	71224313	Human	2	name
14699785	CV625688	duplication	NM_000166.6(GJB1):c.617dup (p.Ala207fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447221]\|Charcot-Marie-Tooth disease [RCV000789291]	uncertain significance	X	71224323	71224324	Human	2	name
14699718	CV625693	deletion	NM_000166.6(GJB1):c.634del (p.Leu212fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447204]\|Charcot-Marie-Tooth disease [RCV000789204]	uncertain significance	X	71224340	71224340	Human	2	name
14700464	CV625703	duplication	NM_000166.6(GJB1):c.761dup (p.Gln255fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447305]\|Charcot-Marie-Tooth disease [RCV000790297]	uncertain significance	X	71224467	71224468	Human	2	name
14699727	CV625704	deletion	NM_000166.6(GJB1):c.772del (p.Ser258fs)	Charcot-Marie-Tooth Neuropathy X [RCV001058334]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447208]\|Charcot-Marie-Tooth disease [RCV000789213]	pathogenic\|likely pathogenic\|uncertain significance	X	71224479	71224479	Human	3	name
14699728	CV625710	deletion	NM_000166.6(GJB1):c.800del (p.Pro267fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447209]\|Charcot-Marie-Tooth disease [RCV000789214]	pathogenic\|uncertain significance	X	71224505	71224505	Human	2	name
14699729	CV625711	deletion	NM_000166.6(GJB1):c.822del (p.Glu275fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447210]\|Charcot-Marie-Tooth disease [RCV000789215]	pathogenic\|uncertain significance	X	71224529	71224529	Human	2	name
14699730	CV625714	duplication	NM_000166.6(GJB1):c.844dup (p.Ala282fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447211]\|Charcot-Marie-Tooth disease [RCV000789216]	pathogenic\|uncertain significance	X	71224549	71224550	Human	2	name
14719143	CV650194	single nucleotide variant	NM_000166.6(GJB1):c.265C>G (p.Leu89Val)	Charcot-Marie-Tooth Neuropathy X [RCV000796042]\|not provided [RCV001531786]	pathogenic\|likely pathogenic\|uncertain significance	X	71223972	71223972	Human	1	name
21072178	CV679697	single nucleotide variant	NM_000166.6(GJB1):c.118G>T (p.Ala40Ser)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000984885]	likely pathogenic	X	71223825	71223825	Human	1	name
25327459	CV815869	single nucleotide variant	NM_000166.6(GJB1):c.152T>C (p.Phe51Ser)	not provided [RCV001027526]	uncertain significance	X	71223859	71223859	Human		name
26887723	CV850244	single nucleotide variant	NM_000166.6(GJB1):c.140A>T (p.Glu47Val)	Charcot-Marie-Tooth Neuropathy X [RCV001056724]	uncertain significance	X	71223847	71223847	Human	1	name
26918375	CV850245	single nucleotide variant	NM_000166.6(GJB1):c.199C>T (p.Gln67Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001043520]	pathogenic	X	71223906	71223906	Human	1	name
26894025	CV850246	single nucleotide variant	NM_000166.6(GJB1):c.212T>A (p.Ile71Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001063118]	uncertain significance	X	71223919	71223919	Human	1	name
26889188	CV850247	single nucleotide variant	NM_000166.6(GJB1):c.221T>C (p.Val74Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001058022]\|not provided [RCV004998619]	uncertain significance	X	71223928	71223928	Human	1	name
26887005	CV850248	single nucleotide variant	NM_000166.6(GJB1):c.269T>C (p.Leu90Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001055661]	likely pathogenic	X	71223976	71223976	Human	1	name
34891365	CV904741	single nucleotide variant	NM_000166.6(GJB1):c.139G>A (p.Glu47Lys)	not provided [RCV001172019]	uncertain significance	X	71223846	71223846	Human		name
34890106	CV905520	single nucleotide variant	NM_000166.6(GJB1):c.109G>C (p.Val37Leu)	Charcot-Marie-Tooth disease [RCV001173558]	likely pathogenic	X	71223816	71223816	Human	1	name
38467988	CV921024	single nucleotide variant	NM_000166.6(GJB1):c.183C>A (p.Asn61Lys)	not provided [RCV001200504]	uncertain significance	X	71223890	71223890	Human		name
38493462	CV929804	single nucleotide variant	NM_000166.6(GJB1):c.138T>G (p.Asp46Glu)	Charcot-Marie-Tooth Neuropathy X [RCV001224257]	uncertain significance	X	71223845	71223845	Human	1	name
38480040	CV929805	single nucleotide variant	NM_000166.6(GJB1):c.263C>G (p.Ala88Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001217363]	uncertain significance	X	71223970	71223970	Human	1	name
38486717	CV939673	single nucleotide variant	NM_000166.6(GJB1):c.127G>C (p.Val43Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001209014]	uncertain significance	X	71223834	71223834	Human	1	name
38456096	CV951876	deletion	NM_000166.6(GJB1):c.630del (p.Tyr211fs)	Charcot-Marie-Tooth Neuropathy X [RCV001228242]	pathogenic	X	71224337	71224337	Human	1	name
38495600	CV959342	single nucleotide variant	NM_000166.6(GJB1):c.196G>T (p.Asp66Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV001242035]	uncertain significance	X	71223903	71223903	Human	1	name
40886984	CV974420	single nucleotide variant	NM_000166.6(GJB1):c.160A>C (p.Asn54His)	Inborn genetic diseases [RCV001266338]	likely pathogenic	X	71223867	71223867	Human	1	name
41406809	CV983262	single nucleotide variant	NM_000166.6(GJB1):c.149C>G (p.Ser50Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001871724]\|not provided [RCV001288927]	uncertain significance	X	71223856	71223856	Human	1	name
41406811	CV983263	single nucleotide variant	NM_000166.6(GJB1):c.268C>A (p.Leu90Ile)	Inborn genetic diseases [RCV002451645]\|not provided [RCV001288929]	uncertain significance	X	71223975	71223975	Human	1	name
126744620	CV999867	single nucleotide variant	NM_000166.6(GJB1):c.218A>G (p.His73Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001300676]\|Peripheral neuropathy [RCV001328477]	likely pathogenic\|uncertain significance	X	71223925	71223925	Human	3	name
126759881	CV999868	single nucleotide variant	NM_000166.6(GJB1):c.279G>C (p.Met93Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001309148]	uncertain significance	X	71223986	71223986	Human		name
126756141	CV1015057	single nucleotide variant	NM_000166.6(GJB1):c.344T>C (p.Leu115Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001317110]	uncertain significance	X	71224051	71224051	Human	1	name
126772271	CV1015058	single nucleotide variant	NM_000166.6(GJB1):c.374T>G (p.Val125Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001323655]	uncertain significance	X	71224081	71224081	Human	1	name
126727754	CV1015059	single nucleotide variant	NM_000166.6(GJB1):c.584T>A (p.Leu195Gln)	Charcot-Marie-Tooth Neuropathy X [RCV001312350]	uncertain significance	X	71224291	71224291	Human	1	name
126728954	CV1015060	single nucleotide variant	NM_000166.6(GJB1):c.602G>C (p.Cys201Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001312609]	uncertain significance	X	71224309	71224309	Human	1	name
126747478	CV1015061	single nucleotide variant	NM_000166.6(GJB1):c.608T>C (p.Ile203Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001326161]	uncertain significance	X	71224315	71224315	Human	1	name
126747690	CV1015062	single nucleotide variant	NM_000166.6(GJB1):c.758G>A (p.Ser253Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001315393]\|Charcot-Marie-Tooth disease [RCV001835558]\|not provided [RCV004998813]\|not specified [RCV004587117]	uncertain significance	X	71224465	71224465	Human	2	name
126741339	CV1019057	single nucleotide variant	NM_000166.6(GJB1):c.705C>A (p.Phe235Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001329668]\|not specified [RCV003235550]	uncertain significance	X	71224412	71224412	Human	1	name
126765838	CV1035623	single nucleotide variant	NM_000166.6(GJB1):c.808G>A (p.Gly270Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001342191]	uncertain significance	X	71224515	71224515	Human	1	name
127310678	CV1159822	single nucleotide variant	NM_000166.6(GJB1):c.442G>A (p.Val148Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001518365]\|Charcot-Marie-Tooth disease [RCV001826374]	benign	X	71224149	71224149	Human	2	name
150336090	CV1166486	single nucleotide variant	NM_000166.6(GJB1):c.668G>A (p.Arg223His)	Charcot-Marie-Tooth Neuropathy X [RCV003771647]\|not provided [RCV001531788]	uncertain significance	X	71224375	71224375	Human	1	name
150421173	CV1199537	single nucleotide variant	NM_000166.6(GJB1):c.493C>G (p.Leu165Val)	Inborn genetic diseases [RCV004988693]\|not provided [RCV001577924]	uncertain significance	X	71224200	71224200	Human	1	name
150453311	CV1275417	single nucleotide variant	NM_000166.6(GJB1):c.646G>A (p.Ala216Thr)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001706932]	uncertain significance	X	71224353	71224353	Human	1	name
150550943	CV1289545	single nucleotide variant	NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	Charcot-Marie-Tooth Neuropathy X [RCV002538695]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002221163]\|not provided [RCV001753910]	likely pathogenic\|uncertain significance	X	71224027	71224027	Human	2	name
151232952	CV1316938	single nucleotide variant	NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003581805]\|not provided [RCV001786758]	uncertain significance	X	71224435	71224435	Human	1	name
151233238	CV1320165	single nucleotide variant	NM_000166.6(GJB1):c.520C>G (p.Pro174Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001799555]	likely pathogenic	X	71224227	71224227	Human	1	name
151234829	CV1320560	single nucleotide variant	NM_000166.6(GJB1):c.619G>C (p.Ala207Pro)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001800184]	uncertain significance	X	71224326	71224326	Human	1	name
151829819	CV1348520	single nucleotide variant	NM_000166.6(GJB1):c.447C>A (p.Phe149Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001870424]	likely pathogenic\|uncertain significance	X	71224154	71224154	Human	1	name
151786558	CV1348930	single nucleotide variant	NM_000166.6(GJB1):c.473C>T (p.Pro158Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001897752]	uncertain significance	X	71224180	71224180	Human	1	name
151819821	CV1385909	single nucleotide variant	NM_000166.6(GJB1):c.757A>G (p.Ser253Gly)	Charcot-Marie-Tooth Neuropathy X [RCV002013265]	uncertain significance	X	71224464	71224464	Human	1	name
151728330	CV1409993	single nucleotide variant	NM_000166.6(GJB1):c.391C>G (p.Leu131Val)	Charcot-Marie-Tooth Neuropathy X [RCV001910610]	uncertain significance	X	71224098	71224098	Human	1	name
151807091	CV1417641	single nucleotide variant	NM_000166.6(GJB1):c.832G>A (p.Asp278Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001867652]\|Inborn genetic diseases [RCV005341103]	uncertain significance	X	71224539	71224539	Human	2	name
151757366	CV1443512	single nucleotide variant	NM_000166.6(GJB1):c.682C>T (p.Pro228Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001872856]	uncertain significance	X	71224389	71224389	Human	1	name
151850042	CV1464840	single nucleotide variant	NM_000166.6(GJB1):c.834C>A (p.Asp278Glu)	Charcot-Marie-Tooth Neuropathy X [RCV001995842]	uncertain significance	X	71224541	71224541	Human	1	name
151837666	CV1469898	single nucleotide variant	NM_000166.6(GJB1):c.847T>C (p.Cys283Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001880976]	uncertain significance	X	71224554	71224554	Human	1	name
151872472	CV1470797	single nucleotide variant	NM_000166.6(GJB1):c.842C>T (p.Ser281Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001925398]	uncertain significance	X	71224549	71224549	Human	1	name
151749694	CV1487649	single nucleotide variant	NM_000166.6(GJB1):c.416T>G (p.Val139Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001948014]	pathogenic	X	71224123	71224123	Human	1	name
151845209	CV1498465	single nucleotide variant	NM_000166.6(GJB1):c.719C>T (p.Ser240Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001978185]	uncertain significance	X	71224426	71224426	Human	1	name
151838107	CV1501320	single nucleotide variant	NM_000166.6(GJB1):c.533A>C (p.Asp178Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001977370]	uncertain significance	X	71224240	71224240	Human	1	name
151868978	CV1516711	single nucleotide variant	NM_000166.6(GJB1):c.436G>C (p.Glu146Gln)	Charcot-Marie-Tooth Neuropathy X [RCV001981056]	uncertain significance	X	71224143	71224143	Human	1	name
151729444	CV1517665	single nucleotide variant	NM_000166.6(GJB1):c.596G>A (p.Gly199Asp)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002052281]	uncertain significance	X	71224303	71224303	Human	1	name
9586758	CV165479	single nucleotide variant	NM_000166.6(GJB1):c.580A>G (p.Met194Val)	Charcot-Marie-Tooth Neuropathy X [RCV002512552]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000143794]	pathogenic\|likely pathogenic	X	71224287	71224287	Human	2	name
9586760	CV165481	single nucleotide variant	NM_000166.6(GJB1):c.790C>T (p.Arg264Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001857486]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000143796]\|Charcot-Marie-Tooth disease [RCV001174164]\|not provided [RCV003327372]	pathogenic\|likely benign\|uncertain significance	X	71224497	71224497	Human	3	name
9684242	CV167382	single nucleotide variant	NM_000166.6(GJB1):c.688C>T (p.Arg230Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000551749]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002483279]\|Charcot-Marie-Tooth disease [RCV000144863]\|Inborn genetic diseases [RCV002362778]\|not provided [RCV004998292]\|not specified [RCV000213596]	pathogenic\|likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224395	71224395	Human	4	name
152983016	CV1677861	single nucleotide variant	NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002250015]	pathogenic	X	71224102	71224102	Human	1	name
152983017	CV1677862	single nucleotide variant	NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002250016]	pathogenic	X	71224201	71224201	Human	1	name
153347944	CV1694993	single nucleotide variant	NM_000166.6(GJB1):c.448A>G (p.Met150Val)	not provided [RCV002278924]	uncertain significance	X	71224155	71224155	Human		name
155670663	CV1771022	single nucleotide variant	NM_000166.6(GJB1):c.836G>T (p.Arg279Leu)	Charcot-Marie-Tooth Neuropathy X [RCV002297334]	uncertain significance	X	71224543	71224543	Human	1	name
155730393	CV1814167	single nucleotide variant	NM_000166.6(GJB1):c.835C>T (p.Arg279Cys)	Inborn genetic diseases [RCV002434734]	uncertain significance	X	71224542	71224542	Human	1	name
155737689	CV1820087	single nucleotide variant	NM_000166.6(GJB1):c.779A>G (p.Lys260Arg)	Inborn genetic diseases [RCV002409878]	uncertain significance	X	71224486	71224486	Human	1	name
10041286	CV186291	single nucleotide variant	NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	Charcot-Marie-Tooth Neuropathy X [RCV000168077]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000714875]\|Charcot-Marie-Tooth disease [RCV000789950]\|Inborn genetic diseases [RCV002515186]\|not provided [RCV001657932]	pathogenic\|likely pathogenic\|uncertain significance\|no classifications from unflagged records	X	71224132	71224132	Human	4	name
155802213	CV1864293	single nucleotide variant	NM_000166.6(GJB1):c.462T>A (p.Tyr154Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004556862]\|not provided [RCV002475246]	pathogenic	X	71224169	71224169	Human	1	name
156349592	CV1878301	single nucleotide variant	NM_000166.6(GJB1):c.412A>G (p.Ser138Gly)	Charcot-Marie-Tooth Neuropathy X [RCV003064737]	uncertain significance	X	71224119	71224119	Human	1	name
156349605	CV1878302	single nucleotide variant	NM_000166.6(GJB1):c.526A>C (p.Thr176Pro)	Charcot-Marie-Tooth Neuropathy X [RCV003064738]	uncertain significance	X	71224233	71224233	Human	1	name
156349618	CV1878304	single nucleotide variant	NM_000166.6(GJB1):c.554C>T (p.Thr185Ile)	Charcot-Marie-Tooth Neuropathy X [RCV003064739]	uncertain significance	X	71224261	71224261	Human	1	name
156349930	CV1886007	single nucleotide variant	NM_000166.6(GJB1):c.803G>C (p.Gly268Ala)	Charcot-Marie-Tooth Neuropathy X [RCV003090891]	uncertain significance	X	71224510	71224510	Human	1	name
155976695	CV1886094	single nucleotide variant	NM_000166.6(GJB1):c.791G>A (p.Arg264His)	Charcot-Marie-Tooth Neuropathy X [RCV003075453]\|Inborn genetic diseases [RCV003377864]\|not specified [RCV004700935]	uncertain significance	X	71224498	71224498	Human	2	name
155949452	CV1921845	single nucleotide variant	NM_000166.6(GJB1):c.625G>T (p.Val209Leu)	Charcot-Marie-Tooth Neuropathy X [RCV002616139]	uncertain significance	X	71224332	71224332	Human	1	name
156132653	CV1998615	single nucleotide variant	NM_000166.6(GJB1):c.596G>T (p.Gly199Val)	Charcot-Marie-Tooth Neuropathy X [RCV002663276]	uncertain significance	X	71224303	71224303	Human	1	name
156022623	CV2019451	single nucleotide variant	NM_000166.6(GJB1):c.644G>A (p.Arg215Gln)	Charcot-Marie-Tooth Neuropathy X [RCV002691074]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004690316]	likely pathogenic\|uncertain significance	X	71224351	71224351	Human	2	name
156083244	CV2023680	single nucleotide variant	NM_000166.6(GJB1):c.388A>G (p.Thr130Ala)	Charcot-Marie-Tooth Neuropathy X [RCV002760694]	uncertain significance	X	71224095	71224095	Human	1	name
155952170	CV2033163	single nucleotide variant	NM_000166.6(GJB1):c.736A>G (p.Asn246Asp)	Charcot-Marie-Tooth Neuropathy X [RCV002730738]	uncertain significance	X	71224443	71224443	Human	1	name
156093234	CV2054583	single nucleotide variant	NM_000166.6(GJB1):c.413G>C (p.Ser138Thr)	Charcot-Marie-Tooth Neuropathy X [RCV002824268]	likely pathogenic	X	71224120	71224120	Human	1	name
156054556	CV2089798	single nucleotide variant	NM_000166.6(GJB1):c.454G>A (p.Val152Ile)	Charcot-Marie-Tooth Neuropathy X [RCV002867895]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005409896]	uncertain significance	X	71224161	71224161	Human	2	name
156015581	CV2114379	single nucleotide variant	NM_000166.6(GJB1):c.409A>G (p.Ile137Val)	Charcot-Marie-Tooth Neuropathy X [RCV002909346]	uncertain significance	X	71224116	71224116	Human	1	name
156009892	CV2126812	single nucleotide variant	NM_000166.6(GJB1):c.428T>G (p.Leu143Arg)	Charcot-Marie-Tooth Neuropathy X [RCV002975591]	uncertain significance	X	71224135	71224135	Human	1	name
10405986	CV213501	single nucleotide variant	NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	Charcot-Marie-Tooth Neuropathy X [RCV000200289]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003633486]\|Charcot-Marie-Tooth disease [RCV000790300]\|Inborn genetic diseases [RCV002444807]\|not provided [RCV000349313]	pathogenic\|likely pathogenic\|uncertain significance	X	71224012	71224012	Human	4	name
10405684	CV213502	single nucleotide variant	NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000197033]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000754745]\|Charcot-Marie-Tooth disease [RCV000789836]\|not provided [RCV000235360]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224254	71224254	Human	3	name
156163317	CV2136954	single nucleotide variant	NM_000166.6(GJB1):c.372G>T (p.Lys124Asn)	Charcot-Marie-Tooth Neuropathy X [RCV003005147]	uncertain significance	X	71224079	71224079	Human	1	name
10408879	CV213893	single nucleotide variant	NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	Charcot-Marie-Tooth Neuropathy X [RCV001044069]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000201004]\|not provided [RCV002274941]	pathogenic	X	71224026	71224026	Human	2	name
10408958	CV213894	single nucleotide variant	NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000793229]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000201175]\|not provided [RCV000307118]	pathogenic	X	71224197	71224197	Human	2	name
156116273	CV2150546	single nucleotide variant	NM_000166.6(GJB1):c.526A>G (p.Thr176Ala)	Charcot-Marie-Tooth Neuropathy X [RCV003021615]\|GJB1-related disorder [RCV004754916]	uncertain significance	X	71224233	71224233	Human	2	name , trait , alternate_id
155973596	CV2154636	single nucleotide variant	NM_000166.6(GJB1):c.512A>G (p.Tyr171Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003033546]	uncertain significance	X	71224219	71224219	Human	1	name
156328148	CV2161093	single nucleotide variant	NM_000166.6(GJB1):c.788T>C (p.Leu263Pro)	Charcot-Marie-Tooth Neuropathy X [RCV003029609]	uncertain significance	X	71224495	71224495	Human	1	name
156092802	CV2167147	single nucleotide variant	NM_000166.6(GJB1):c.301A>C (p.Ile101Leu)	Charcot-Marie-Tooth Neuropathy X [RCV003038279]	uncertain significance	X	71224008	71224008	Human	1	name
156352024	CV2190391	single nucleotide variant	NM_000166.6(GJB1):c.329G>T (p.Gly110Val)	Charcot-Marie-Tooth Neuropathy X [RCV003048408]	uncertain significance	X	71224036	71224036	Human	1	name
10767650	CV222887	single nucleotide variant	NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	Charcot-Marie-Tooth Neuropathy X [RCV000205076]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002466254]\|not provided [RCV000236627]	pathogenic\|likely pathogenic\|uncertain significance	X	71224351	71224351	Human	2	name
11090574	CV232156	single nucleotide variant	NM_000166.6(GJB1):c.372G>C (p.Lys124Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001294422]\|Charcot-Marie-Tooth disease [RCV000789170]\|not provided [RCV000216227]	likely pathogenic\|uncertain significance	X	71224079	71224079	Human	2	name
11088810	CV232157	single nucleotide variant	NM_000166.6(GJB1):c.542T>A (p.Val181Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000654849]\|not provided [RCV000214039]	likely pathogenic\|uncertain significance	X	71224249	71224249	Human	1	name
11088938	CV232162	single nucleotide variant	NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447126]\|Charcot-Marie-Tooth disease [RCV000789222]\|not provided [RCV000214191]	pathogenic\|uncertain significance	X	71224263	71224263	Human	2	name
156434385	CV2402845	single nucleotide variant	NM_000166.6(GJB1):c.577T>C (p.Phe193Leu)	Peripheral neuropathy [RCV003126286]	likely pathogenic	X	71224284	71224284	Human	2	name
11523515	CV245184	single nucleotide variant	NM_000166.6(GJB1):c.376C>T (p.His126Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV000698707]\|Charcot-Marie-Tooth disease [RCV000789056]\|not provided [RCV000236069]	likely pathogenic\|uncertain significance	X	71224083	71224083	Human	2	name
11523108	CV245186	single nucleotide variant	NM_000166.6(GJB1):c.439G>A (p.Ala147Thr)	not provided [RCV000235353]	likely pathogenic	X	71224146	71224146	Human		name
11523706	CV245187	single nucleotide variant	NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000822814]\|not provided [RCV000236399]	pathogenic	X	71224169	71224169	Human	1	name
11523069	CV245188	single nucleotide variant	NM_000166.6(GJB1):c.541G>A (p.Val181Met)	Charcot-Marie-Tooth Neuropathy X [RCV000804182]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002272191]\|Charcot-Marie-Tooth disease [RCV000789192]\|not provided [RCV000235289]	pathogenic\|uncertain significance	X	71224248	71224248	Human	3	name
11523479	CV245189	single nucleotide variant	NM_000166.6(GJB1):c.643C>T (p.Arg215Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000688999]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003388834]\|Charcot-Marie-Tooth disease [RCV000789850]\|not provided [RCV000236009]	pathogenic\|likely pathogenic\|uncertain significance	X	71224350	71224350	Human	3	name
8598493	CV25470	single nucleotide variant	NM_000166.6(GJB1):c.424C>T (p.Arg142Trp)	Charcot-Marie-Tooth Neuropathy X [RCV000474456]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011176]\|not provided [RCV000236641]	pathogenic	X	71224131	71224131	Human	2	name
8598494	CV25471	single nucleotide variant	NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001053029]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011177]\|not provided [RCV001090308]	pathogenic\|likely pathogenic	X	71224221	71224221	Human	2	name
8598495	CV25472	single nucleotide variant	NM_000166.6(GJB1):c.415G>A (p.Val139Met)	Charcot-Marie-Tooth Neuropathy X [RCV000545060]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011178]\|Charcot-Marie-Tooth disease [RCV000789810]\|Inborn genetic diseases [RCV002326673]\|not provided [RCV002274895]	pathogenic\|uncertain significance	X	71224122	71224122	Human	4	name
8598496	CV25473	single nucleotide variant	NM_000166.6(GJB1):c.397T>C (p.Trp133Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011179]	pathogenic	X	71224104	71224104	Human	1	name
8598497	CV25474	single nucleotide variant	NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)	Charcot-Marie-Tooth Neuropathy X [RCV000466155]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011180]\|Inborn genetic diseases [RCV002362576]\|not provided [RCV000236998]	pathogenic	X	71224365	71224365	Human	3	name
8598499	CV25476	single nucleotide variant	NM_000166.6(GJB1):c.467T>G (p.Leu156Arg)	Charcot-Marie-Tooth Neuropathy X [RCV000463876]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011182]\|Inborn genetic diseases [RCV002326674]\|not provided [RCV000256065]	pathogenic\|likely pathogenic	X	71224174	71224174	Human	3	name
8598503	CV25481	single nucleotide variant	NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000537008]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011187]\|not provided [RCV000991856]	pathogenic	X	71224321	71224321	Human	2	name
8598506	CV25489	single nucleotide variant	NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000467010]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011195]\|Charcot-Marie-Tooth disease [RCV001271691]\|Inborn genetic diseases [RCV002362577]\|not provided [RCV001711068]\|not specified [RCV000344288]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224411	71224411	Human	4	name
8598507	CV25490	single nucleotide variant	NM_000166.6(GJB1):c.407T>C (p.Val136Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011196]\|Dejerine-Sottas disease [RCV000011197]	pathogenic	X	71224114	71224114	Human	2	name
401918056	CV2795178	single nucleotide variant	NM_000166.6(GJB1):c.455T>C (p.Val152Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003388962]	likely pathogenic	X	71224162	71224162	Human	1	name
401928734	CV2829252	single nucleotide variant	NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)	not provided [RCV003439588]\|not specified [RCV004526258]	uncertain significance	X	71224146	71224146	Human		name
401946986	CV2831904	single nucleotide variant	NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447409]	uncertain significance	X	71224559	71224559	Human	1	name
401946987	CV2831905	single nucleotide variant	NM_000166.6(GJB1):c.851G>C (p.Ter284Ser)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447410]	uncertain significance	X	71224558	71224558	Human	1	name
405080020	CV2863780	single nucleotide variant	NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)	Charcot-Marie-Tooth Neuropathy X [RCV003581952]	pathogenic	X	71224017	71224017	Human	1	name
405083328	CV2866343	single nucleotide variant	NM_000166.6(GJB1):c.572C>A (p.Thr191Asn)	Charcot-Marie-Tooth Neuropathy X [RCV003582278]	uncertain significance	X	71224279	71224279	Human	1	name
405084360	CV2870385	single nucleotide variant	NM_000166.6(GJB1):c.811G>T (p.Ala271Ser)	Charcot-Marie-Tooth Neuropathy X [RCV003582359]	uncertain significance	X	71224518	71224518	Human	1	name
405073236	CV2886375	single nucleotide variant	NM_000166.6(GJB1):c.302T>C (p.Ile101Thr)	Charcot-Marie-Tooth Neuropathy X [RCV003581268]	uncertain significance	X	71224009	71224009	Human	1	name
405094041	CV2922494	single nucleotide variant	NM_000166.6(GJB1):c.593C>G (p.Ser198Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003583105]	uncertain significance	X	71224300	71224300	Human	1	name
405081354	CV2933654	single nucleotide variant	NM_000166.6(GJB1):c.580A>C (p.Met194Leu)	Charcot-Marie-Tooth Neuropathy X [RCV003582071]	uncertain significance	X	71224287	71224287	Human	1	name
405065430	CV2990448	single nucleotide variant	NM_000166.6(GJB1):c.566T>C (p.Val189Ala)	Charcot-Marie-Tooth Neuropathy X [RCV003741941]	uncertain significance	X	71224273	71224273	Human	1	name
405067092	CV3000931	single nucleotide variant	NM_000166.6(GJB1):c.316C>G (p.Leu106Val)	Charcot-Marie-Tooth Neuropathy X [RCV003742065]	uncertain significance	X	71224023	71224023	Human	1	name
405066205	CV3002564	single nucleotide variant	NM_000166.6(GJB1):c.369C>A (p.His123Gln)	Charcot-Marie-Tooth Neuropathy X [RCV003742000]	uncertain significance	X	71224076	71224076	Human	1	name
405737306	CV3254977	single nucleotide variant	NM_000166.6(GJB1):c.304G>C (p.Glu102Gln)	Inborn genetic diseases [RCV004390795]	uncertain significance	X	71224011	71224011	Human	1	name
8601020	CV33937	single nucleotide variant	NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020175]\|Charcot-Marie-Tooth disease [RCV000789199]\|not provided [RCV000220506]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	X	71224243	71224243	Human	2	name
8601021	CV33938	single nucleotide variant	NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	Charcot-Marie-Tooth Neuropathy X [RCV000654837]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020176]\|Charcot-Marie-Tooth disease [RCV000789812]\|Inborn genetic diseases [RCV002345250]\|not provided [RCV001815168]	pathogenic\|likely pathogenic\|uncertain significance	X	71224263	71224263	Human	4	name
407503397	CV3495808	single nucleotide variant	NM_000166.6(GJB1):c.513C>A (p.Tyr171Ter)	not provided [RCV004697648]	likely pathogenic	X	71224220	71224220	Human		name
11631488	CV352941	single nucleotide variant	NM_000166.6(GJB1):c.463C>A (p.Leu155Met)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000379624]	uncertain significance	X	71224170	71224170	Human	1	name
12741620	CV361106	single nucleotide variant	NM_000166.6(GJB1):c.502T>G (p.Cys168Gly)	Charcot-Marie-Tooth Neuropathy X [RCV005090683]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001199043]\|Decreased nerve conduction velocity [RCV000415205]\|Pes cavus [RCV000414760]	likely pathogenic\|uncertain significance	X	71224209	71224209	Human	13	name
597679845	CV3684600	single nucleotide variant	NM_000166.6(GJB1):c.653C>G (p.Ala218Gly)	Inborn genetic diseases [RCV004982546]	uncertain significance	X	71224360	71224360	Human	1	name
597649993	CV3730436	single nucleotide variant	NM_000166.6(GJB1):c.529G>C (p.Val177Leu)	not provided [RCV005000725]	likely pathogenic	X	71224236	71224236	Human		name
597850914	CV3785479	single nucleotide variant	NM_000166.6(GJB1):c.832G>T (p.Asp278Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV005126065]	uncertain significance	X	71224539	71224539	Human	1	name
597858823	CV3788472	single nucleotide variant	NM_000166.6(GJB1):c.506A>T (p.Asp169Val)	Charcot-Marie-Tooth Neuropathy X [RCV005133147]	uncertain significance	X	71224213	71224213	Human	1	name
597856706	CV3788729	single nucleotide variant	NM_000166.6(GJB1):c.306G>C (p.Glu102Asp)	Charcot-Marie-Tooth Neuropathy X [RCV005131207]	uncertain significance	X	71224013	71224013	Human	1	name
597855231	CV3789695	single nucleotide variant	NM_000166.6(GJB1):c.544T>C (p.Ser182Pro)	Charcot-Marie-Tooth Neuropathy X [RCV005129790]	uncertain significance	X	71224251	71224251	Human	1	name
597857480	CV3789908	single nucleotide variant	NM_000166.6(GJB1):c.769G>A (p.Gly257Ser)	Charcot-Marie-Tooth Neuropathy X [RCV005131987]	uncertain significance	X	71224476	71224476	Human	1	name
12836666	CV379525	single nucleotide variant	NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)	Charcot-Marie-Tooth Neuropathy X [RCV002522718]\|Charcot-Marie-Tooth disease [RCV001828457]\|not provided [RCV000423810]	likely benign\|uncertain significance	X	71224366	71224366	Human	2	name
597905996	CV3835276	single nucleotide variant	NM_000166.6(GJB1):c.794G>A (p.Arg265His)	Charcot-Marie-Tooth Neuropathy X [RCV005180996]	uncertain significance	X	71224501	71224501	Human	1	name
597928771	CV3853570	single nucleotide variant	NM_000166.6(GJB1):c.532G>C (p.Asp178His)	Charcot-Marie-Tooth Neuropathy X [RCV005203049]	uncertain significance	X	71224239	71224239	Human	1	name
597924279	CV3857472	single nucleotide variant	NM_000166.6(GJB1):c.414C>G (p.Ser138Arg)	Charcot-Marie-Tooth Neuropathy X [RCV005199089]	likely pathogenic	X	71224121	71224121	Human	1	name
597832155	CV3864052	single nucleotide variant	NM_000166.6(GJB1):c.379A>C (p.Ile127Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005208519]	likely pathogenic	X	71224086	71224086	Human	1	name
598127558	CV3882738	single nucleotide variant	NM_000166.6(GJB1):c.339C>A (p.Asp113Glu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005234269]	uncertain significance	X	71224046	71224046	Human	1	name
598130053	CV3888814	single nucleotide variant	NM_000166.6(GJB1):c.763C>T (p.Gln255Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005245577]	likely pathogenic	X	71224470	71224470	Human	1	name
616934179	CV4012095	single nucleotide variant	NM_000166.6(GJB1):c.401C>T (p.Thr134Ile)	not specified [RCV005409129]	uncertain significance	X	71224108	71224108	Human		name
12881002	CV404296	single nucleotide variant	NM_000166.6(GJB1):c.541G>T (p.Val181Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000457060]	uncertain significance	X	71224248	71224248	Human	1	name
12893787	CV411472	single nucleotide variant	NM_000166.6(GJB1):c.566T>G (p.Val189Gly)	Charcot-Marie-Tooth Neuropathy X [RCV000809132]\|Charcot-Marie-Tooth disease [RCV000789819]\|not provided [RCV000480241]	pathogenic\|likely pathogenic\|uncertain significance	X	71224273	71224273	Human	2	name
12893224	CV411473	single nucleotide variant	NM_000166.6(GJB1):c.610C>A (p.Leu204Ile)	Charcot-Marie-Tooth Neuropathy X [RCV000703562]\|not provided [RCV000478206]	likely pathogenic\|uncertain significance	X	71224317	71224317	Human	1	name
12895415	CV411474	single nucleotide variant	NM_000166.6(GJB1):c.626T>G (p.Val209Gly)	not provided [RCV000486398]	likely pathogenic	X	71224333	71224333	Human		name
12912710	CV422511	single nucleotide variant	NM_000166.6(GJB1):c.307A>G (p.Lys103Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000704995]\|Charcot-Marie-Tooth disease [RCV000789185]\|not provided [RCV000492924]	likely pathogenic\|uncertain significance	X	71224014	71224014	Human	2	name
12913969	CV422512	single nucleotide variant	NM_000166.6(GJB1):c.605T>A (p.Ile202Asn)	not provided [RCV000494481]	pathogenic\|likely pathogenic\|not provided	X	71224312	71224312	Human		name
13445862	CV438450	single nucleotide variant	NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)	Charcot-Marie-Tooth disease [RCV000789240]\|not provided [RCV000512953]	uncertain significance	X	71224036	71224036	Human	1	name
13467987	CV442447	single nucleotide variant	NM_000166.6(GJB1):c.478T>C (p.Tyr160His)	Charcot-Marie-Tooth Neuropathy X [RCV000544254]\|Charcot-Marie-Tooth disease [RCV000789189]\|not provided [RCV000516785]	pathogenic\|likely pathogenic\|uncertain significance	X	71224185	71224185	Human	2	name
13482004	CV442448	single nucleotide variant	NM_000166.6(GJB1):c.497T>G (p.Val166Gly)	Charcot-Marie-Tooth disease [RCV001829466]\|not specified [RCV000517746]	uncertain significance	X	71224204	71224204	Human	1	name
13483938	CV442449	single nucleotide variant	NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)	Charcot-Marie-Tooth disease [RCV000789925]\|not specified [RCV000518316]	uncertain significance	X	71224240	71224240	Human	1	name
13470699	CV442450	single nucleotide variant	NM_000166.6(GJB1):c.548G>A (p.Arg183His)	Charcot-Marie-Tooth Neuropathy X [RCV000654852]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002248750]\|Charcot-Marie-Tooth disease [RCV000789837]\|Inborn genetic diseases [RCV002350137]\|not provided [RCV000517827]	pathogenic\|uncertain significance	X	71224255	71224255	Human	4	name
13485503	CV442451	single nucleotide variant	NM_000166.6(GJB1):c.571A>T (p.Thr191Ser)	not specified [RCV000518749]	uncertain significance	X	71224278	71224278	Human		name
13479528	CV442452	single nucleotide variant	NM_000166.6(GJB1):c.574G>T (p.Val192Phe)	Charcot-Marie-Tooth Neuropathy X [RCV005091183]\|Charcot-Marie-Tooth disease [RCV000789285]\|not specified [RCV000517022]	uncertain significance	X	71224281	71224281	Human	2	name
13481520	CV442453	single nucleotide variant	NM_000166.6(GJB1):c.592T>C (p.Ser198Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001201859]\|not provided [RCV000517601]	uncertain significance	X	71224299	71224299	Human	1	name
13471380	CV442454	single nucleotide variant	NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	Charcot-Marie-Tooth Neuropathy X [RCV000805747]\|Charcot-Marie-Tooth disease [RCV000789848]\|Inborn genetic diseases [RCV002367715]\|not provided [RCV000518825]	pathogenic\|uncertain significance	X	71224329	71224329	Human	3	name
13479298	CV442455	single nucleotide variant	NM_000166.6(GJB1):c.629T>A (p.Val210Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000791594]\|not specified [RCV000516944]	uncertain significance	X	71224336	71224336	Human	1	name
13474670	CV446750	single nucleotide variant	NM_000166.6(GJB1):c.392T>G (p.Leu131Arg)	Charcot-Marie-Tooth Neuropathy X [RCV003741195]\|not provided [RCV000519707]	likely pathogenic\|uncertain significance	X	71224099	71224099	Human	1	name
13474486	CV446751	single nucleotide variant	NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003993995]\|Charcot-Marie-Tooth disease [RCV000789935]\|not provided [RCV000519658]	likely pathogenic\|uncertain significance	X	71224130	71224130	Human	2	name
13498819	CV470992	single nucleotide variant	NM_000166.6(GJB1):c.370A>G (p.Lys124Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000530309]\|Peripheral neuropathy [RCV001836840]	pathogenic\|likely pathogenic\|uncertain significance	X	71224077	71224077	Human	3	name
13468886	CV470996	single nucleotide variant	NM_000166.6(GJB1):c.461A>G (p.Tyr154Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000560305]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003313965]	uncertain significance	X	71224168	71224168	Human	2	name
13498587	CV470998	single nucleotide variant	NM_000166.6(GJB1):c.475G>A (p.Gly159Ser)	Charcot-Marie-Tooth Neuropathy X [RCV000529489]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004787898]\|Charcot-Marie-Tooth disease [RCV000789250]	pathogenic\|likely pathogenic\|uncertain significance	X	71224182	71224182	Human	3	name
13468689	CV471000	single nucleotide variant	NM_000166.6(GJB1):c.515C>T (p.Pro172Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000559484]\|Charcot-Marie-Tooth disease [RCV000789937]	pathogenic\|uncertain significance	X	71224222	71224222	Human	2	name
13497657	CV471001	single nucleotide variant	NM_000166.6(GJB1):c.712C>T (p.Arg238Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000525515]\|Charcot-Marie-Tooth disease [RCV000789895]	uncertain significance	X	71224419	71224419	Human	2	name
13468322	CV471721	single nucleotide variant	NM_000166.6(GJB1):c.565G>A (p.Val189Ile)	Charcot-Marie-Tooth Neuropathy X [RCV000558127]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002483509]\|Charcot-Marie-Tooth disease [RCV000789820]\|Inborn genetic diseases [RCV002350395]\|not provided [RCV005415576]	likely benign\|uncertain significance	X	71224272	71224272	Human	4	name
13500650	CV472202	single nucleotide variant	NM_000166.6(GJB1):c.532G>A (p.Asp178Asn)	Charcot-Marie-Tooth Neuropathy X [RCV000537790]\|not provided [RCV001531787]	pathogenic\|uncertain significance	X	71224239	71224239	Human	1	name
13520473	CV495847	duplication	NM_000166.6(GJB1):c.324dup (p.Glu109Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447150]\|Charcot-Marie-Tooth disease [RCV000789256]\|not provided [RCV000598661]	likely pathogenic\|uncertain significance	X	71224029	71224030	Human	2	name
13530378	CV512743	single nucleotide variant	NM_000166.6(GJB1):c.637A>G (p.Ile213Val)	Charcot-Marie-Tooth Neuropathy X [RCV000654834]\|Charcot-Marie-Tooth disease [RCV000789057]\|Inborn genetic diseases [RCV000622462]\|not provided [RCV001700255]	likely benign\|uncertain significance	X	71224344	71224344	Human	3	name
13626462	CV534929	single nucleotide variant	NM_000166.6(GJB1):c.670C>T (p.Arg224Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000654853]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000791131]\|Charcot-Marie-Tooth disease [RCV001279978]	uncertain significance	X	71224377	71224377	Human	3	name
13626453	CV534956	single nucleotide variant	NM_000166.6(GJB1):c.505G>A (p.Asp169Asn)	Charcot-Marie-Tooth Neuropathy X [RCV000654840]\|Charcot-Marie-Tooth disease [RCV001835899]	uncertain significance	X	71224212	71224212	Human	2	name
13626459	CV535067	single nucleotide variant	NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)	Charcot-Marie-Tooth Neuropathy X [RCV000654848]\|Charcot-Marie-Tooth disease [RCV000789818]\|not provided [RCV003482294]\|not specified [RCV002248849]	likely pathogenic\|uncertain significance	X	71224266	71224266	Human	2	name
13626457	CV535069	single nucleotide variant	NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)	Charcot-Marie-Tooth Neuropathy X [RCV000654846]\|Charcot-Marie-Tooth disease [RCV000789831]\|not provided [RCV001756107]\|not specified [RCV003330871]	uncertain significance	X	71224365	71224365	Human	2	name
13626454	CV535194	single nucleotide variant	NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	Charcot-Marie-Tooth Neuropathy X [RCV000654841]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002289943]\|Charcot-Marie-Tooth disease [RCV000789839]\|Inborn genetic diseases [RCV002343392]\|Peripheral neuropathy [RCV001814206]\|not provided [RCV001310733]	pathogenic\|likely pathogenic\|uncertain significance	X	71224198	71224198	Human	6	name
13626458	CV535195	single nucleotide variant	NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)	Charcot-Marie-Tooth Neuropathy X [RCV000654847]\|Charcot-Marie-Tooth disease [RCV001271692]\|Inborn genetic diseases [RCV002424550]\|not provided [RCV003482293]	likely benign\|uncertain significance	X	71224537	71224537	Human	3	name
13812337	CV572570	single nucleotide variant	NM_000166.6(GJB1):c.449T>G (p.Met150Arg)	Charcot-Marie-Tooth Neuropathy X [RCV000703637]	uncertain significance	X	71224156	71224156	Human	1	name
13815767	CV572572	single nucleotide variant	NM_000166.6(GJB1):c.529G>A (p.Val177Met)	Charcot-Marie-Tooth Neuropathy X [RCV000691854]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005231278]\|Charcot-Marie-Tooth disease [RCV000789941]	likely pathogenic\|uncertain significance	X	71224236	71224236	Human	3	name
13807570	CV572574	single nucleotide variant	NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)	Charcot-Marie-Tooth Neuropathy X [RCV000701205]\|Charcot-Marie-Tooth disease [RCV000789922]\|not provided [RCV000991855]	pathogenic\|likely pathogenic\|uncertain significance	X	71224247	71224247	Human	2	name
13808355	CV572580	single nucleotide variant	NM_000166.6(GJB1):c.811G>A (p.Ala271Thr)	Charcot-Marie-Tooth Neuropathy X [RCV000687232]\|Charcot-Marie-Tooth disease [RCV001829896]\|Inborn genetic diseases [RCV002422475]	uncertain significance	X	71224518	71224518	Human	3	name
13805551	CV573997	single nucleotide variant	NM_000166.6(GJB1):c.584T>C (p.Leu195Pro)	Charcot-Marie-Tooth Neuropathy X [RCV000700136]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001198205]	likely pathogenic\|uncertain significance	X	71224291	71224291	Human	2	name
13805699	CV574885	single nucleotide variant	NM_000166.6(GJB1):c.656G>A (p.Arg219His)	Charcot-Marie-Tooth Neuropathy X [RCV000685849]\|Charcot-Marie-Tooth disease [RCV000789825]\|not specified [RCV005240461]	uncertain significance	X	71224363	71224363	Human	2	name
13803014	CV575446	single nucleotide variant	NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)	Charcot-Marie-Tooth Neuropathy X [RCV000698825]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002249416]\|Charcot-Marie-Tooth disease [RCV000789284]	likely pathogenic\|uncertain significance	X	71224099	71224099	Human	3	name
13809088	CV577980	single nucleotide variant	NM_000166.6(GJB1):c.617T>G (p.Val206Gly)	Charcot-Marie-Tooth Neuropathy X [RCV005092060]\|Inborn genetic diseases [RCV002352231]\|not provided [RCV000711360]	uncertain significance	X	71224324	71224324	Human	2	name
14393308	CV609158	single nucleotide variant	NM_000166.6(GJB1):c.590C>T (p.Ala197Val)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000755014]\|Charcot-Marie-Tooth disease [RCV000789880]	pathogenic\|uncertain significance	X	71224297	71224297	Human	2	name
14393137	CV609184	single nucleotide variant	NM_000166.6(GJB1):c.394T>C (p.Trp132Arg)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000755048]\|Charcot-Marie-Tooth disease [RCV000789878]	pathogenic\|uncertain significance	X	71224101	71224101	Human	2	name
14395756	CV611955	single nucleotide variant	NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447160]\|Charcot-Marie-Tooth disease [RCV000789956]\|not provided [RCV000760373]	pathogenic\|uncertain significance	X	71224340	71224340	Human	2	name
14700234	CV625573	single nucleotide variant	NM_000166.6(GJB1):c.298C>T (p.His100Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV002535810]\|Charcot-Marie-Tooth disease [RCV000789948]	pathogenic\|uncertain significance	X	71224005	71224005	Human	2	name
14700165	CV625574	single nucleotide variant	NM_000166.6(GJB1):c.300C>G (p.His100Gln)	Charcot-Marie-Tooth Neuropathy X [RCV001869228]\|Charcot-Marie-Tooth disease [RCV000789868]	likely pathogenic\|uncertain significance	X	71224007	71224007	Human	2	name
14699750	CV625575	single nucleotide variant	NM_000166.6(GJB1):c.304G>T (p.Glu102Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011188]\|Charcot-Marie-Tooth disease [RCV000789249]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224011	71224011	Human	2	name
14700242	CV625578	single nucleotide variant	NM_000166.6(GJB1):c.311A>C (p.Lys104Thr)	Charcot-Marie-Tooth disease [RCV000789960]	uncertain significance	X	71224018	71224018	Human	1	name
14700238	CV625579	single nucleotide variant	NM_000166.6(GJB1):c.323T>C (p.Leu108Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001873224]\|Charcot-Marie-Tooth disease [RCV000789954]	uncertain significance	X	71224030	71224030	Human	2	name
14699798	CV625582	single nucleotide variant	NM_000166.6(GJB1):c.355G>T (p.Glu119Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447226]\|Charcot-Marie-Tooth disease [RCV000789305]	uncertain significance	X	71224062	71224062	Human	2	name
14700168	CV625584	single nucleotide variant	NM_000166.6(GJB1):c.359T>A (p.Val120Glu)	Charcot-Marie-Tooth Neuropathy X [RCV001228785]\|Charcot-Marie-Tooth disease [RCV000789871]	uncertain significance	X	71224066	71224066	Human	2	name
14699754	CV625586	single nucleotide variant	NM_000166.6(GJB1):c.374T>A (p.Val125Asp)	Charcot-Marie-Tooth disease [RCV000789254]	uncertain significance	X	71224081	71224081	Human	1	name
14700214	CV625587	single nucleotide variant	NM_000166.6(GJB1):c.379A>T (p.Ile127Phe)	Charcot-Marie-Tooth disease [RCV000789924]	uncertain significance	X	71224086	71224086	Human	1	name
14700241	CV625588	single nucleotide variant	NM_000166.6(GJB1):c.380T>G (p.Ile127Ser)	Charcot-Marie-Tooth disease [RCV000789959]	uncertain significance	X	71224087	71224087	Human	1	name
14699779	CV625589	single nucleotide variant	NM_000166.6(GJB1):c.381C>G (p.Ile127Met)	Charcot-Marie-Tooth disease [RCV000789283]	pathogenic\|uncertain significance	X	71224088	71224088	Human	1	name
14699703	CV625590	single nucleotide variant	NM_000166.6(GJB1):c.382T>C (p.Ser128Pro)	Charcot-Marie-Tooth disease [RCV000789186]	uncertain significance	X	71224089	71224089	Human	1	name
14700153	CV625591	single nucleotide variant	NM_000166.6(GJB1):c.383C>A (p.Ser128Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447279]\|Charcot-Marie-Tooth disease [RCV000789854]	uncertain significance	X	71224090	71224090	Human	2	name
14699808	CV625592	single nucleotide variant	NM_000166.6(GJB1):c.383C>G (p.Ser128Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447227]\|Charcot-Marie-Tooth disease [RCV000789316]	uncertain significance	X	71224090	71224090	Human	2	name
14700189	CV625593	single nucleotide variant	NM_000166.6(GJB1):c.383C>T (p.Ser128Leu)	Charcot-Marie-Tooth disease [RCV000789896]	uncertain significance	X	71224090	71224090	Human	1	name
14700146	CV625594	single nucleotide variant	NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)	Charcot-Marie-Tooth disease [RCV000789843]\|not provided [RCV002473136]	uncertain significance	X	71224096	71224096	Human	1	name
14699758	CV625595	single nucleotide variant	NM_000166.6(GJB1):c.396G>A (p.Trp132Ter)	Charcot-Marie-Tooth Neuropathy X [RCV005092371]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447214]\|Charcot-Marie-Tooth disease [RCV000789259]	pathogenic\|uncertain significance	X	71224103	71224103	Human	3	name
14700220	CV625597	single nucleotide variant	NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447296]\|Charcot-Marie-Tooth disease [RCV000789931]\|not provided [RCV003886436]	pathogenic\|uncertain significance	X	71224106	71224106	Human	2	name
14700231	CV625598	single nucleotide variant	NM_000166.6(GJB1):c.399G>T (p.Trp133Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001053372]\|Charcot-Marie-Tooth disease [RCV000789945]	uncertain significance	X	71224106	71224106	Human	2	name
14699772	CV625599	single nucleotide variant	NM_000166.6(GJB1):c.404A>G (p.Tyr135Cys)	Charcot-Marie-Tooth disease [RCV000789275]	uncertain significance	X	71224111	71224111	Human	1	name
14700161	CV625601	single nucleotide variant	NM_000166.6(GJB1):c.413G>A (p.Ser138Asn)	Charcot-Marie-Tooth Neuropathy X [RCV003581723]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003133594]\|Charcot-Marie-Tooth disease [RCV000789864]	uncertain significance	X	71224120	71224120	Human	3	name
14700179	CV625602	single nucleotide variant	NM_000166.6(GJB1):c.419T>A (p.Val140Glu)	Charcot-Marie-Tooth disease [RCV000789885]	uncertain significance	X	71224126	71224126	Human	1	name
14700180	CV625604	single nucleotide variant	NM_000166.6(GJB1):c.428T>C (p.Leu143Pro)	Charcot-Marie-Tooth disease [RCV000789886]	uncertain significance	X	71224135	71224135	Human	1	name
14700206	CV625606	single nucleotide variant	NM_000166.6(GJB1):c.436G>A (p.Glu146Lys)	Charcot-Marie-Tooth disease [RCV000789914]	uncertain significance	X	71224143	71224143	Human	1	name
14700200	CV625608	single nucleotide variant	NM_000166.6(GJB1):c.437A>C (p.Glu146Ala)	Charcot-Marie-Tooth disease [RCV000789908]	uncertain significance	X	71224144	71224144	Human	1	name
14700207	CV625610	single nucleotide variant	NM_000166.6(GJB1):c.440C>A (p.Ala147Asp)	Charcot-Marie-Tooth disease [RCV000789915]	uncertain significance	X	71224147	71224147	Human	1	name
14699773	CV625612	single nucleotide variant	NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002470980]\|Charcot-Marie-Tooth disease [RCV000789276]	likely pathogenic\|uncertain significance	X	71224152	71224152	Human	2	name
14699803	CV625613	single nucleotide variant	NM_000166.6(GJB1):c.445T>G (p.Phe149Val)	Charcot-Marie-Tooth disease [RCV000789311]	uncertain significance	X	71224152	71224152	Human	1	name
14700216	CV625614	single nucleotide variant	NM_000166.6(GJB1):c.451T>A (p.Tyr151Asn)	Charcot-Marie-Tooth disease [RCV000789927]	uncertain significance	X	71224158	71224158	Human	1	name
14700212	CV625615	single nucleotide variant	NM_000166.6(GJB1):c.451T>C (p.Tyr151His)	Charcot-Marie-Tooth disease [RCV000789921]	uncertain significance	X	71224158	71224158	Human	1	name
14699744	CV625617	single nucleotide variant	NM_000166.6(GJB1):c.455T>A (p.Val152Asp)	Charcot-Marie-Tooth Neuropathy X [RCV005092370]\|Charcot-Marie-Tooth disease [RCV000789241]	uncertain significance	X	71224162	71224162	Human	2	name
14699755	CV625619	single nucleotide variant	NM_000166.6(GJB1):c.458T>C (p.Phe153Ser)	Charcot-Marie-Tooth disease [RCV000789255]	uncertain significance	X	71224165	71224165	Human	1	name
14700174	CV625620	single nucleotide variant	NM_000166.6(GJB1):c.458T>G (p.Phe153Cys)	Charcot-Marie-Tooth disease [RCV000789879]	uncertain significance	X	71224165	71224165	Human	1	name
14699747	CV625622	single nucleotide variant	NM_000166.6(GJB1):c.466C>T (p.Leu156Phe)	Charcot-Marie-Tooth disease [RCV000789245]	uncertain significance	X	71224173	71224173	Human	1	name
14699704	CV625623	single nucleotide variant	NM_000166.6(GJB1):c.470A>G (p.Tyr157Cys)	Charcot-Marie-Tooth disease [RCV000789187]	uncertain significance	X	71224177	71224177	Human	1	name
14699721	CV625624	single nucleotide variant	NM_000166.6(GJB1):c.472C>G (p.Pro158Ala)	Charcot-Marie-Tooth Neuropathy X [RCV003581711]\|Charcot-Marie-Tooth disease [RCV000789207]	uncertain significance	X	71224179	71224179	Human	2	name
14699774	CV625625	single nucleotide variant	NM_000166.6(GJB1):c.472C>T (p.Pro158Ser)	Charcot-Marie-Tooth Neuropathy X [RCV002535800]\|Charcot-Marie-Tooth disease [RCV000789277]	uncertain significance	X	71224179	71224179	Human	2	name
14699705	CV625626	single nucleotide variant	NM_000166.6(GJB1):c.473C>G (p.Pro158Arg)	Charcot-Marie-Tooth disease [RCV000789188]	uncertain significance	X	71224180	71224180	Human	1	name
14700147	CV625628	single nucleotide variant	NM_000166.6(GJB1):c.476G>A (p.Gly159Asp)	Charcot-Marie-Tooth Neuropathy X [RCV001869227]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV005047051]\|Charcot-Marie-Tooth disease [RCV000789844]\|not specified [RCV004689882]	likely pathogenic\|uncertain significance	X	71224183	71224183	Human	3	name
14700122	CV625629	single nucleotide variant	NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)	Charcot-Marie-Tooth Neuropathy X [RCV005092374]\|Charcot-Marie-Tooth disease [RCV000789805]\|not provided [RCV000991854]	likely pathogenic\|uncertain significance	X	71224186	71224186	Human	2	name
14699706	CV625630	single nucleotide variant	NM_000166.6(GJB1):c.481G>C (p.Ala161Pro)	Charcot-Marie-Tooth disease [RCV000789190]	uncertain significance	X	71224188	71224188	Human	1	name
14700217	CV625631	single nucleotide variant	NM_000166.6(GJB1):c.482C>A (p.Ala161Asp)	Charcot-Marie-Tooth disease [RCV000789928]	uncertain significance	X	71224189	71224189	Human	1	name
14700123	CV625633	single nucleotide variant	NM_000166.6(GJB1):c.490C>G (p.Arg164Gly)	Charcot-Marie-Tooth disease [RCV000789806]	uncertain significance	X	71224197	71224197	Human	1	name
14700124	CV625634	single nucleotide variant	NM_000166.6(GJB1):c.494T>C (p.Leu165Pro)	Charcot-Marie-Tooth disease [RCV000789807]	uncertain significance	X	71224201	71224201	Human	1	name
14699745	CV625636	single nucleotide variant	NM_000166.6(GJB1):c.499A>G (p.Lys167Glu)	Charcot-Marie-Tooth disease [RCV000789242]	uncertain significance	X	71224206	71224206	Human	1	name
14699722	CV625637	single nucleotide variant	NM_000166.6(GJB1):c.502T>C (p.Cys168Arg)	Charcot-Marie-Tooth disease [RCV000789208]	uncertain significance	X	71224209	71224209	Human	1	name
14700213	CV625638	single nucleotide variant	NM_000166.6(GJB1):c.503G>A (p.Cys168Tyr)	Charcot-Marie-Tooth disease [RCV000789923]	uncertain significance	X	71224210	71224210	Human	1	name
14700469	CV625639	single nucleotide variant	NM_000166.6(GJB1):c.508G>A (p.Val170Ile)	Charcot-Marie-Tooth Neuropathy X [RCV005092379]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003133595]\|Charcot-Marie-Tooth disease [RCV000790306]	uncertain significance	X	71224215	71224215	Human	3	name
14700166	CV625640	single nucleotide variant	NM_000166.6(GJB1):c.508G>T (p.Val170Phe)	Charcot-Marie-Tooth Neuropathy X [RCV002535809]\|Charcot-Marie-Tooth disease [RCV000789869]	uncertain significance	X	71224215	71224215	Human	2	name
14699739	CV625641	single nucleotide variant	NM_000166.6(GJB1):c.509T>A (p.Val170Asp)	Charcot-Marie-Tooth disease [RCV000789231]	uncertain significance	X	71224216	71224216	Human	1	name
14699731	CV625642	single nucleotide variant	NM_000166.6(GJB1):c.514C>G (p.Pro172Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001706707]\|Charcot-Marie-Tooth disease [RCV000789217]	likely pathogenic\|uncertain significance	X	71224221	71224221	Human	2	name
14699810	CV625643	single nucleotide variant	NM_000166.6(GJB1):c.515C>G (p.Pro172Arg)	Charcot-Marie-Tooth disease [RCV000789318]	uncertain significance	X	71224222	71224222	Human	1	name
14699775	CV625644	single nucleotide variant	NM_000166.6(GJB1):c.517T>C (p.Cys173Arg)	Charcot-Marie-Tooth disease [RCV000789278]	uncertain significance	X	71224224	71224224	Human	1	name
14699799	CV625645	single nucleotide variant	NM_000166.6(GJB1):c.518G>T (p.Cys173Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001353158]\|Charcot-Marie-Tooth disease [RCV000789306]	pathogenic\|uncertain significance	X	71224225	71224225	Human	2	name
14699787	CV625646	single nucleotide variant	NM_000166.6(GJB1):c.521C>T (p.Pro174Leu)	Charcot-Marie-Tooth disease [RCV000789293]	uncertain significance	X	71224228	71224228	Human	1	name
14700225	CV625647	single nucleotide variant	NM_000166.6(GJB1):c.523A>G (p.Asn175Asp)	Charcot-Marie-Tooth disease [RCV000789938]	uncertain significance	X	71224230	71224230	Human	1	name
14699743	CV625648	single nucleotide variant	NM_000166.6(GJB1):c.524A>G (p.Asn175Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001210532]\|Charcot-Marie-Tooth disease [RCV000789239]	uncertain significance	X	71224231	71224231	Human	2	name
14699804	CV625649	single nucleotide variant	NM_000166.6(GJB1):c.530T>A (p.Val177Glu)	Charcot-Marie-Tooth disease [RCV000789312]	uncertain significance	X	71224237	71224237	Human	1	name
14699734	CV625650	single nucleotide variant	NM_000166.6(GJB1):c.530T>C (p.Val177Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV004669115]\|Charcot-Marie-Tooth disease [RCV000789220]	pathogenic\|uncertain significance	X	71224237	71224237	Human	2	name
14700138	CV625651	single nucleotide variant	NM_000166.6(GJB1):c.532G>T (p.Asp178Tyr)	Charcot-Marie-Tooth disease [RCV000789830]	uncertain significance	X	71224239	71224239	Human	1	name
14699746	CV625653	single nucleotide variant	NM_000166.6(GJB1):c.533A>T (p.Asp178Val)	Charcot-Marie-Tooth disease [RCV000789243]	uncertain significance	X	71224240	71224240	Human	1	name
14699707	CV625654	single nucleotide variant	NM_000166.6(GJB1):c.535T>C (p.Cys179Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001042490]\|Charcot-Marie-Tooth disease [RCV000789191]	uncertain significance	X	71224242	71224242	Human	2	name
14699762	CV625655	single nucleotide variant	NM_000166.6(GJB1):c.535T>G (p.Cys179Gly)	Charcot-Marie-Tooth disease [RCV000789263]	uncertain significance	X	71224242	71224242	Human	1	name
14700426	CV625656	single nucleotide variant	NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)	Charcot-Marie-Tooth Neuropathy X [RCV003581731]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000990866]\|Charcot-Marie-Tooth disease [RCV000790237]	pathogenic\|likely pathogenic\|uncertain significance	X	71224245	71224245	Human	3	name
14699738	CV625657	single nucleotide variant	NM_000166.6(GJB1):c.539T>C (p.Phe180Ser)	Charcot-Marie-Tooth disease [RCV000789230]	uncertain significance	X	71224246	71224246	Human	1	name
14700218	CV625658	single nucleotide variant	NM_000166.6(GJB1):c.541G>C (p.Val181Leu)	Charcot-Marie-Tooth disease [RCV000789929]\|not provided [RCV001289398]	likely pathogenic\|uncertain significance	X	71224248	71224248	Human	1	name
14700115	CV625659	single nucleotide variant	NM_000166.6(GJB1):c.542T>C (p.Val181Ala)	Charcot-Marie-Tooth Neuropathy X [RCV001350409]\|Charcot-Marie-Tooth disease [RCV000789797]	uncertain significance	X	71224249	71224249	Human	2	name
14700140	CV625660	single nucleotide variant	NM_000166.6(GJB1):c.544T>A (p.Ser182Thr)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003985824]\|Charcot-Marie-Tooth disease [RCV000789833]	pathogenic\|uncertain significance	X	71224251	71224251	Human	2	name
14700184	CV625661	single nucleotide variant	NM_000166.6(GJB1):c.545C>G (p.Ser182Cys)	Charcot-Marie-Tooth disease [RCV000789890]	uncertain significance	X	71224252	71224252	Human	1	name
14700185	CV625662	single nucleotide variant	NM_000166.6(GJB1):c.545C>T (p.Ser182Phe)	Charcot-Marie-Tooth disease [RCV000789891]	uncertain significance	X	71224252	71224252	Human	1	name
14700143	CV625663	single nucleotide variant	NM_000166.6(GJB1):c.547C>A (p.Arg183Ser)	Charcot-Marie-Tooth disease [RCV000789838]	uncertain significance	X	71224254	71224254	Human	1	name
14700186	CV625664	single nucleotide variant	NM_000166.6(GJB1):c.548G>C (p.Arg183Pro)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002290041]\|Charcot-Marie-Tooth disease [RCV000789892]	likely pathogenic\|uncertain significance	X	71224255	71224255	Human	2	name
14699751	CV625665	single nucleotide variant	NM_000166.6(GJB1):c.551C>G (p.Pro184Arg)	Charcot-Marie-Tooth disease [RCV000789251]	uncertain significance	X	71224258	71224258	Human	1	name
14699800	CV625668	single nucleotide variant	NM_000166.6(GJB1):c.557A>T (p.Glu186Val)	Charcot-Marie-Tooth disease [RCV000789307]	uncertain significance	X	71224264	71224264	Human	1	name
14700181	CV625670	single nucleotide variant	NM_000166.6(GJB1):c.571A>G (p.Thr191Ala)	Charcot-Marie-Tooth disease [RCV000789887]	uncertain significance	X	71224278	71224278	Human	1	name
14700130	CV625673	single nucleotide variant	NM_000166.6(GJB1):c.578T>G (p.Phe193Cys)	Charcot-Marie-Tooth Neuropathy X [RCV005092375]\|Charcot-Marie-Tooth disease [RCV000789821]	uncertain significance	X	71224285	71224285	Human	2	name
14700195	CV625674	single nucleotide variant	NM_000166.6(GJB1):c.579C>G (p.Phe193Leu)	Charcot-Marie-Tooth disease [RCV000789902]	uncertain significance	X	71224286	71224286	Human	1	name
14700201	CV625675	single nucleotide variant	NM_000166.6(GJB1):c.592T>G (p.Ser198Ala)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003387929]\|Charcot-Marie-Tooth disease [RCV000789909]	likely pathogenic\|uncertain significance	X	71224299	71224299	Human	2	name
14700131	CV625676	single nucleotide variant	NM_000166.6(GJB1):c.593C>T (p.Ser198Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002290040]\|Charcot-Marie-Tooth disease [RCV000789822]	likely pathogenic\|uncertain significance	X	71224300	71224300	Human	2	name
14699741	CV625678	single nucleotide variant	NM_000166.6(GJB1):c.595G>C (p.Gly199Arg)	Charcot-Marie-Tooth disease [RCV000789236]	uncertain significance	X	71224302	71224302	Human	1	name
14700227	CV625679	single nucleotide variant	NM_000166.6(GJB1):c.601T>C (p.Cys201Arg)	Charcot-Marie-Tooth disease [RCV000789940]	uncertain significance	X	71224308	71224308	Human	1	name
14699801	CV625680	single nucleotide variant	NM_000166.6(GJB1):c.601T>G (p.Cys201Gly)	Charcot-Marie-Tooth disease [RCV000789308]	uncertain significance	X	71224308	71224308	Human	1	name
14700158	CV625681	single nucleotide variant	NM_000166.6(GJB1):c.602G>A (p.Cys201Tyr)	Charcot-Marie-Tooth Neuropathy X [RCV001070375]\|Charcot-Marie-Tooth disease [RCV000789861]\|not provided [RCV002245668]	likely pathogenic\|uncertain significance	X	71224309	71224309	Human	2	name
14699714	CV625682	single nucleotide variant	NM_000166.6(GJB1):c.602G>T (p.Cys201Phe)	Charcot-Marie-Tooth disease [RCV000789200]	uncertain significance	X	71224309	71224309	Human	1	name
14700224	CV625684	single nucleotide variant	NM_000166.6(GJB1):c.608T>A (p.Ile203Asn)	Charcot-Marie-Tooth Neuropathy X [RCV005092376]\|Charcot-Marie-Tooth disease [RCV000789936]	uncertain significance	X	71224315	71224315	Human	2	name
14700132	CV625685	single nucleotide variant	NM_000166.6(GJB1):c.610C>G (p.Leu204Val)	Charcot-Marie-Tooth Neuropathy X [RCV000805388]\|Charcot-Marie-Tooth disease [RCV000789823]\|not provided [RCV004773140]	pathogenic\|likely pathogenic\|uncertain significance	X	71224317	71224317	Human	2	name
14700226	CV625686	single nucleotide variant	NM_000166.6(GJB1):c.610C>T (p.Leu204Phe)	Charcot-Marie-Tooth disease [RCV000789939]	uncertain significance	X	71224317	71224317	Human	1	name
14700128	CV625687	single nucleotide variant	NM_000166.6(GJB1):c.614A>T (p.Asn205Ile)	Charcot-Marie-Tooth disease [RCV000789815]	uncertain significance	X	71224321	71224321	Human	1	name
14700182	CV625689	single nucleotide variant	NM_000166.6(GJB1):c.623A>G (p.Glu208Gly)	Charcot-Marie-Tooth disease [RCV000789888]	uncertain significance	X	71224330	71224330	Human	1	name
14700127	CV625692	single nucleotide variant	NM_000166.6(GJB1):c.631T>C (p.Tyr211His)	Charcot-Marie-Tooth disease [RCV000789814]	uncertain significance	X	71224338	71224338	Human	1	name
14699711	CV625694	single nucleotide variant	NM_000166.6(GJB1):c.634C>T (p.Leu212Phe)	Charcot-Marie-Tooth disease [RCV000789196]	uncertain significance	X	71224341	71224341	Human	1	name
14699715	CV625695	single nucleotide variant	NM_000166.6(GJB1):c.641T>A (p.Ile214Asn)	Charcot-Marie-Tooth disease [RCV000789201]	uncertain significance	X	71224348	71224348	Human	1	name
14699735	CV625697	single nucleotide variant	NM_000166.6(GJB1):c.651T>A (p.Cys217Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447212]\|Charcot-Marie-Tooth disease [RCV000789223]	uncertain significance	X	71224358	71224358	Human	2	name
14700133	CV625698	single nucleotide variant	NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)	Charcot-Marie-Tooth Neuropathy X [RCV003581721]\|Charcot-Marie-Tooth disease [RCV000789824]\|not provided [RCV001759483]\|not specified [RCV005407962]	uncertain significance	X	71224362	71224362	Human	2	name
14700196	CV625699	single nucleotide variant	NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)	Charcot-Marie-Tooth Neuropathy X [RCV001478696]\|Charcot-Marie-Tooth disease [RCV000789903]\|not specified [RCV002249495]	likely benign\|uncertain significance	X	71224384	71224384	Human	2	name
14700134	CV625700	single nucleotide variant	NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001444333]\|Charcot-Marie-Tooth disease [RCV000789826]\|Inborn genetic diseases [RCV002360906]\|not provided [RCV001172021]\|not specified [RCV002249494]	likely benign\|uncertain significance	X	71224396	71224396	Human	3	name
14699765	CV625701	single nucleotide variant	NM_000166.6(GJB1):c.713G>A (p.Arg238His)	Charcot-Marie-Tooth Neuropathy X [RCV001869216]\|Charcot-Marie-Tooth disease [RCV000789267]	uncertain significance	X	71224420	71224420	Human	2	name
14699780	CV625702	single nucleotide variant	NM_000166.6(GJB1):c.715C>A (p.Leu239Ile)	Charcot-Marie-Tooth disease [RCV000789286]	uncertain significance	X	71224422	71224422	Human	1	name
14700167	CV625706	single nucleotide variant	NM_000166.6(GJB1):c.778A>G (p.Lys260Glu)	Charcot-Marie-Tooth disease [RCV000789870]	uncertain significance	X	71224485	71224485	Human	1	name
14700187	CV625708	single nucleotide variant	NM_000166.6(GJB1):c.791G>T (p.Arg264Leu)	Charcot-Marie-Tooth disease [RCV000789893]	uncertain significance	X	71224498	71224498	Human	1	name
14699719	CV625712	single nucleotide variant	NM_000166.6(GJB1):c.838T>G (p.Cys280Gly)	Charcot-Marie-Tooth disease [RCV000789205]	uncertain significance	X	71224545	71224545	Human	1	name
14699766	CV625713	single nucleotide variant	NM_000166.6(GJB1):c.842C>A (p.Ser281Ter)	Charcot-Marie-Tooth Neuropathy X [RCV003581712]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447216]\|Charcot-Marie-Tooth disease [RCV000789268]	uncertain significance	X	71224549	71224549	Human	3	name
14699794	CV625715	single nucleotide variant	NM_000166.6(GJB1):c.849C>A (p.Cys283Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447222]\|Charcot-Marie-Tooth disease [RCV000789301]	uncertain significance	X	71224556	71224556	Human	2	name
14715648	CV650195	single nucleotide variant	NM_000166.6(GJB1):c.394T>G (p.Trp132Gly)	Charcot-Marie-Tooth Neuropathy X [RCV000811287]	uncertain significance	X	71224101	71224101	Human	1	name
14743886	CV650196	single nucleotide variant	NM_000166.6(GJB1):c.434T>G (p.Phe145Cys)	Charcot-Marie-Tooth Neuropathy X [RCV000823732]	pathogenic\|likely pathogenic\|uncertain significance	X	71224141	71224141	Human	1	name
15122612	CV685032	single nucleotide variant	NM_000166.6(GJB1):c.671G>A (p.Arg224His)	Charcot-Marie-Tooth Neuropathy X [RCV001086484]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002507468]\|GJB1-related disorder [RCV004754584]\|Inborn genetic diseases [RCV002363211]\|not provided [RCV000862092]	benign\|likely benign	X	71224378	71224378	Human	3	name , trait , alternate_id
21073963	CV793891	single nucleotide variant	NM_000166.6(GJB1):c.299A>T (p.His100Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001303696]\|not provided [RCV000991853]	uncertain significance	X	71224006	71224006	Human	1	name
21073967	CV793892	single nucleotide variant	NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)	Charcot-Marie-Tooth Neuropathy X [RCV003741241]\|not provided [RCV000991857]	uncertain significance	X	71224420	71224420	Human	1	name
21073970	CV793893	single nucleotide variant	NM_000166.6(GJB1):c.793C>T (p.Arg265Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001042902]\|not provided [RCV000991858]	uncertain significance	X	71224500	71224500	Human	1	name
21075115	CV798385	single nucleotide variant	NM_000166.6(GJB1):c.502T>A (p.Cys168Ser)	not provided [RCV000995948]	likely pathogenic	X	71224209	71224209	Human		name
21404740	CV800412	single nucleotide variant	NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	Cerebellar ataxia [RCV001002786]\|Charcot-Marie-Tooth Neuropathy X [RCV001064177]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV002221159]\|not provided [RCV001289397]	pathogenic\|likely pathogenic\|uncertain significance	X	71224093	71224093	Human	4	name
25327431	CV815848	single nucleotide variant	NM_000166.6(GJB1):c.380T>A (p.Ile127Asn)	not provided [RCV001027490]	uncertain significance	X	71224087	71224087	Human		name
26919530	CV850249	single nucleotide variant	NM_000166.6(GJB1):c.340C>A (p.Pro114Thr)	Charcot-Marie-Tooth Neuropathy X [RCV001045726]	uncertain significance	X	71224047	71224047	Human	1	name
26921623	CV850250	single nucleotide variant	NM_000166.6(GJB1):c.491G>T (p.Arg164Leu)	Charcot-Marie-Tooth Neuropathy X [RCV001050378]	likely pathogenic\|uncertain significance	X	71224198	71224198	Human	1	name
26918006	CV850251	single nucleotide variant	NM_000166.6(GJB1):c.501G>T (p.Lys167Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001042661]\|Charcot-Marie-Tooth disease [RCV001174163]	uncertain significance	X	71224208	71224208	Human	2	name
26916003	CV850252	single nucleotide variant	NM_000166.6(GJB1):c.504C>A (p.Cys168Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001039712]	pathogenic	X	71224211	71224211	Human	1	name
26919575	CV850253	single nucleotide variant	NM_000166.6(GJB1):c.509T>G (p.Val170Gly)	Charcot-Marie-Tooth Neuropathy X [RCV001045872]	uncertain significance	X	71224216	71224216	Human	1	name
26902902	CV850254	single nucleotide variant	NM_000166.6(GJB1):c.574G>A (p.Val192Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001069545]\|Charcot-Marie-Tooth disease [RCV001276389]	likely benign\|uncertain significance	X	71224281	71224281	Human	2	name
26921978	CV850255	single nucleotide variant	NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys)	Charcot-Marie-Tooth Neuropathy X [RCV001051168]	pathogenic\|likely pathogenic	X	71224339	71224339	Human	1	name
26915576	CV850256	single nucleotide variant	NM_000166.6(GJB1):c.635T>G (p.Leu212Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001039171]	uncertain significance	X	71224342	71224342	Human	1	name
26892906	CV850257	single nucleotide variant	NM_000166.6(GJB1):c.841T>C (p.Ser281Pro)	Charcot-Marie-Tooth Neuropathy X [RCV001062269]	uncertain significance	X	71224548	71224548	Human	1	name
28876753	CV860921	single nucleotide variant	NM_000166.6(GJB1):c.689G>A (p.Arg230His)	Inborn genetic diseases [RCV002365790]\|not provided [RCV001090309]	uncertain significance	X	71224396	71224396	Human	1	name
38486044	CV929806	single nucleotide variant	NM_000166.6(GJB1):c.311A>T (p.Lys104Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001220122]	likely pathogenic\|uncertain significance	X	71224018	71224018	Human	1	name
38481209	CV929807	single nucleotide variant	NM_000166.6(GJB1):c.519C>A (p.Cys173Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001217905]	pathogenic	X	71224226	71224226	Human	1	name
38492886	CV929808	single nucleotide variant	NM_000166.6(GJB1):c.527C>T (p.Thr176Ile)	Charcot-Marie-Tooth Neuropathy X [RCV001223865]\|Charcot-Marie-Tooth disease [RCV001828784]\|not provided [RCV002261309]	uncertain significance	X	71224234	71224234	Human	2	name
38468356	CV939674	single nucleotide variant	NM_000166.6(GJB1):c.513C>G (p.Tyr171Ter)	Charcot-Marie-Tooth Neuropathy X [RCV001213124]\|not provided [RCV004998729]	pathogenic	X	71224220	71224220	Human	1	name
38468462	CV939675	single nucleotide variant	NM_000166.6(GJB1):c.521C>G (p.Pro174Arg)	Charcot-Marie-Tooth Neuropathy X [RCV001202215]	uncertain significance	X	71224228	71224228	Human	1	name
38491286	CV959344	single nucleotide variant	NM_000166.6(GJB1):c.766G>A (p.Asp256Asn)	Charcot-Marie-Tooth Neuropathy X [RCV001239364]	uncertain significance	X	71224473	71224473	Human	1	name
38597829	CV964631	single nucleotide variant	NM_000166.6(GJB1):c.467T>A (p.Leu156His)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV001253189]	likely pathogenic	X	71224174	71224174	Human	1	name
126750218	CV999869	single nucleotide variant	NM_000166.6(GJB1):c.615T>A (p.Asn205Lys)	Charcot-Marie-Tooth Neuropathy X [RCV001306796]	uncertain significance	X	71224322	71224322	Human	1	name
14700163	CV625460	insertion	NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447283]\|Charcot-Marie-Tooth disease [RCV000789866]	uncertain significance	X	71223749	71223750	Human	2	name
14707424	CV650193	duplication	NM_000166.6(GJB1):c.99_103dup (p.Val35fs)	Charcot-Marie-Tooth Neuropathy X [RCV000808788]\|not provided [RCV001009040]	pathogenic	X	71223805	71223806	Human	1	name
26898442	CV850242	deletion	NM_000166.6(GJB1):c.52_54del (p.Thr18del)	Charcot-Marie-Tooth Neuropathy X [RCV001066555]	pathogenic\|uncertain significance	X	71223757	71223759	Human	1	name
151794049	CV1341066	deletion	NM_000166.6(GJB1):c.264_280del (p.Leu89fs)	Charcot-Marie-Tooth Neuropathy X [RCV001931693]	pathogenic	X	71223969	71223985	Human	1	name
11096511	CV236720	single nucleotide variant	NM_001097642.2(GJB1):c.131G>A (p.Trp44Ter)	Deafness, autosomal recessive 1A [RCV000223674]	pathogenic	X	71223838	71223838	Human		name
14700125	CV625500	microsatellite	NM_000166.6(GJB1):c.124_125del (p.Ser42fs)	Charcot-Marie-Tooth Neuropathy X [RCV000799767]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447274]\|Charcot-Marie-Tooth disease [RCV000789808]	pathogenic\|uncertain significance	X	71223827	71223828	Human		name
14700114	CV625546	deletion	NM_000166.6(GJB1):c.248_257del (p.Leu83fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447271]\|Charcot-Marie-Tooth disease [RCV000789796]	uncertain significance	X	71223954	71223963	Human	2	name
14700232	CV625561	deletion	NM_000166.6(GJB1):c.273_274del (p.Ala92fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447299]\|Charcot-Marie-Tooth disease [RCV000789946]	uncertain significance	X	71223980	71223981	Human	2	name
14700233	CV625562	deletion	NM_000166.6(GJB1):c.275_276del (p.Ala92fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447300]\|Charcot-Marie-Tooth disease [RCV000789947]	uncertain significance	X	71223982	71223983	Human	2	name
14700117	CV625564	deletion	NM_000166.6(GJB1):c.277_278del (p.Met93fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447272]\|Charcot-Marie-Tooth disease [RCV000789799]	uncertain significance	X	71223984	71223985	Human	2	name
38473184	CV929803	duplication	NM_000166.6(GJB1):c.111_112dup (p.Val38fs)	Charcot-Marie-Tooth Neuropathy X [RCV001214227]	pathogenic	X	71223817	71223818	Human	1	name
127269453	CV1065497	duplication	NM_000166.6(GJB1):c.461_464dup (p.Leu156fs)	Charcot-Marie-Tooth Neuropathy X [RCV001389524]	pathogenic	X	71224166	71224167	Human	1	name
151858695	CV1503537	deletion	NM_000166.6(GJB1):c.316_320del (p.Leu106fs)	Charcot-Marie-Tooth Neuropathy X [RCV001979845]	pathogenic	X	71224022	71224026	Human	1	name
401795683	CV2740024	duplication	NM_000166.6(GJB1):c.406_407dup (p.Ile137fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003320013]	likely pathogenic	X	71224111	71224112	Human	1	name
405085478	CV2874920	deletion	NM_000166.6(GJB1):c.655_670del (p.Arg219fs)	Charcot-Marie-Tooth Neuropathy X [RCV003582421]	pathogenic	X	71224359	71224374	Human	1	name
405091913	CV2909612	duplication	NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)	Charcot-Marie-Tooth Neuropathy X [RCV003582925]	pathogenic	X	71224161	71224162	Human	1	name
405068343	CV3015801	deletion	NM_000166.6(GJB1):c.668_675del (p.Arg223fs)	Charcot-Marie-Tooth Neuropathy X [RCV003742167]	pathogenic	X	71224374	71224381	Human	1	name
13533030	CV512742	microsatellite	NM_000166.6(GJB1):c.394_395del (p.Trp132fs)	Charcot-Marie-Tooth Neuropathy X [RCV001855312]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000990864]\|Charcot-Marie-Tooth disease [RCV000789280]\|Inborn genetic diseases [RCV000624800]	pathogenic\|uncertain significance	X	71224099	71224100	Human		name
13820627	CV574881	duplication	NM_000166.6(GJB1):c.297_299dup (p.Gln99dup)	Charcot-Marie-Tooth Neuropathy X [RCV000694513]\|not provided [RCV004997173]	uncertain significance	X	71224001	71224002	Human	1	name
14700421	CV625494	insertion	NM_000166.6(GJB1):c.114_115insC (p.Ala39fs)	Charcot-Marie-Tooth disease [RCV000790231]	uncertain significance	X	71223821	71223822	Human	1	name
14700487	CV625508	duplication	NM_000166.6(GJB1):c.141_143dup (p.Lys48dup)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447312]\|Charcot-Marie-Tooth disease [RCV000790327]	uncertain significance	X	71223846	71223847	Human	2	name
14699776	CV625528	deletion	NM_000166.6(GJB1):c.196_198del (p.Asp66del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447218]\|Charcot-Marie-Tooth disease [RCV000789279]	uncertain significance	X	71223903	71223905	Human	2	name
14700150	CV625605	microsatellite	NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447277]\|Charcot-Marie-Tooth disease [RCV000789847]	uncertain significance	X	71224135	71224137	Human		name
14699717	CV625618	deletion	NM_000166.6(GJB1):c.459_460del (p.Phe153fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447203]\|Charcot-Marie-Tooth disease [RCV000789203]	uncertain significance	X	71224164	71224165	Human	2	name
14699724	CV625635	deletion	NM_000166.6(GJB1):c.498_502del (p.Lys167fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447205]\|Charcot-Marie-Tooth disease [RCV000789210]	uncertain significance	X	71224203	71224207	Human	2	name
14700209	CV625690	microsatellite	NM_000166.6(GJB1):c.625GTG[1] (p.Val210del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447292]\|Charcot-Marie-Tooth disease [RCV000789917]	uncertain significance	X	71224331	71224333	Human		name
14699726	CV625691	deletion	NM_000166.6(GJB1):c.629_632del (p.Val210fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447207]\|Charcot-Marie-Tooth disease [RCV000789212]	pathogenic\|uncertain significance	X	71224336	71224339	Human	2	name
14699797	CV625707	deletion	NM_000166.6(GJB1):c.785_786del (p.Ile262fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447225]\|Charcot-Marie-Tooth disease [RCV000789304]	pathogenic\|uncertain significance	X	71224491	71224492	Human	2	name
14735943	CV650197	deletion	NM_000166.6(GJB1):c.807_808del (p.Ala271fs)	Charcot-Marie-Tooth Neuropathy X [RCV000819796]\|not provided [RCV002473153]	pathogenic\|likely pathogenic	X	71224514	71224515	Human	1	name
21073744	CV792497	microsatellite	NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000990865]	pathogenic	X	71224173	71224174	Human		name
21073971	CV793894	deletion	NM_000166.6(GJB1):c.843_846del (p.Cys283fs)	not provided [RCV000991859]	pathogenic	X	71224549	71224552	Human		name
21074786	CV798821	deletion	NM_000166.6(GJB1):c.783_784del (p.Ile262fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000995551]	pathogenic	X	71224489	71224490	Human	1	name
40889736	CV975647	duplication	NM_000166.6(GJB1):c.508_551dup (p.Thr185fs)	not provided [RCV001268181]	pathogenic	X	71224213	71224214	Human		name
13464381	CV470989	deletion	NM_000166.6(GJB1):c.304_306del (p.Glu102del)	Charcot-Marie-Tooth Neuropathy X [RCV000541816]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011193]\|Charcot-Marie-Tooth disease [RCV000789859]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	X	71224011	71224013	Human	3	name
14700208	CV625583	deletion	NM_000166.6(GJB1):c.358_360del (p.Val120del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447291]\|Charcot-Marie-Tooth disease [RCV000789916]	uncertain significance	X	71224064	71224066	Human	2	name
14700053	CV625652	duplication	NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447235]\|Charcot-Marie-Tooth disease [RCV000789704]	uncertain significance	X	71224238	71224239	Human	2	name
14700135	CV625666	deletion	NM_000166.6(GJB1):c.553_555del (p.Thr185del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447275]\|Charcot-Marie-Tooth disease [RCV000789827]	uncertain significance	X	71224258	71224260	Human	2	name
127273020	CV1065495	insertion	NM_000166.6(GJB1):c.375_376insAC (p.His126fs)	Charcot-Marie-Tooth Neuropathy X [RCV001390656]	pathogenic	X	71224081	71224082	Human		name
597911321	CV3845151	deletion	NM_000166.6(GJB1):c.11_31del (p.Thr4_Leu10del)	Charcot-Marie-Tooth Neuropathy X [RCV005186464]	uncertain significance	X	71223717	71223737	Human	1	name
14700229	CV625461	indel	NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447298]\|Charcot-Marie-Tooth disease [RCV000789943]	uncertain significance	X	71223751	71223752	Human		name
405075877	CV2901248	duplication	NM_000166.6(GJB1):c.134dup (p.Gly45_Asp46insTer)	Charcot-Marie-Tooth Neuropathy X [RCV003581444]	pathogenic	X	71223837	71223838	Human	1	name
14700162	CV625532	indel	NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447282]\|Charcot-Marie-Tooth disease [RCV000789865]	uncertain significance	X	71223915	71223916	Human		name
12884062	CV404306	microsatellite	NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])	Charcot-Marie-Tooth Neuropathy X [RCV000462782]\|not provided [RCV002473011]\|not specified [RCV003401460]	likely pathogenic\|uncertain significance	X	71224269	71224277	Human		name
12913659	CV422509	indel	NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT	not provided [RCV000494095]	uncertain significance	X	71223169	71223173	Human		name
13500908	CV472199	duplication	NM_000166.6(GJB1):c.164_184dup (p.Thr55_Asn61dup)	Charcot-Marie-Tooth Neuropathy X [RCV000538846]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000011192]	pathogenic\|uncertain significance	X	71223862	71223863	Human	2	name
14700215	CV625607	indel	NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447294]\|Charcot-Marie-Tooth disease [RCV000789926]	uncertain significance	X	71224143	71224144	Human		name
14700177	CV625696	indel	NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447286]\|Charcot-Marie-Tooth disease [RCV000789883]	uncertain significance	X	71224348	71224349	Human		name
597674426	CV3062328	indel	NM_000166.6(GJB1):c.276_279delinsTCAC (p.Met93His)	not provided [RCV004997588]	uncertain significance	X	71223983	71223986	Human		name
14700154	CV625581	indel	NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447280]\|Charcot-Marie-Tooth disease [RCV000789855]	uncertain significance	X	71224045	71224052	Human		name
14700210	CV625705	deletion	NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447293]\|Charcot-Marie-Tooth disease [RCV000789919]	uncertain significance	X	71224480	71224480	Human	2	name
12895711	CV411471	duplication	NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup)	Charcot-Marie-Tooth Neuropathy X [RCV000821391]\|not provided [RCV000480217]	likely pathogenic\|uncertain significance	X	71224231	71224232	Human	1	name
13470362	CV442446	deletion	NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del)	Charcot-Marie-Tooth Neuropathy X [RCV001211253]\|not specified [RCV000517314]	uncertain significance	X	71224068	71224076	Human	1	name
14700467	CV625580	deletion	NM_000166.6(GJB1):c.332_349del (p.His111_His116del)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447308]\|Charcot-Marie-Tooth disease [RCV000790301]	uncertain significance	X	71224037	71224054	Human	2	name
38471480	CV959343	indel	NM_000166.6(GJB1):c.443_446delinsGAACAC (p.Val148fs)	Charcot-Marie-Tooth Neuropathy X [RCV001248661]	pathogenic	X	71224150	71224153	Human		name
13820615	CV572576	duplication	NM_000166.6(GJB1):c.569_571dup (p.Phe190_Thr191insIle)	Charcot-Marie-Tooth Neuropathy X [RCV000691640]	uncertain significance	X	71224275	71224276	Human	1	name
14700428	CV625709	deletion	NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447303]\|Charcot-Marie-Tooth disease [RCV000790239]	uncertain significance	X	71224498	71224526	Human	2	name
151764850	CV1517038	insertion	NM_000166.6(GJB1):c.165_166insGAT (p.Thr55_Leu56insAsp)	Charcot-Marie-Tooth Neuropathy X [RCV002024784]	uncertain significance	X	71223872	71223873	Human	1	name
405060663	CV2955423	indel	NM_000166.6(GJB1):c.371_377delinsTCTTCACCT (p.Lys124fs)	Charcot-Marie-Tooth Neuropathy X [RCV003741553]	pathogenic	X	71224078	71224084	Human		name
14699814	CV625671	insertion	NM_000166.6(GJB1):c.573_574insTCA (p.Thr191_Val192insSer)	Charcot-Marie-Tooth disease X-linked dominant 1 [RCV003447228]\|Charcot-Marie-Tooth disease [RCV000789323]	uncertain significance	X	71224280	71224281	Human	2	name
8601022	CV33939	microsatellite	NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)	Charcot-Marie-Tooth Neuropathy X [RCV000698062]\|Charcot-Marie-Tooth disease X-linked dominant 1 [RCV000020177]	pathogenic\|uncertain significance\|not provided	X	71224268	71224269	Human		name
13821304	CV575445	insertion	NM_000166.6(GJB1):c.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla)	Charcot-Marie-Tooth Neuropathy X [RCV000695701]	uncertain significance	X	71223827	71223828	Human	1	name

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