Nefl Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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679 records found for search term Nefl

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8564007	CV29070	deletion	NEFL, 3-BP DEL, 1581GAG	Charcot-Marie-Tooth disease, demyelinating, type 1f [RCV000015076]\|Charcot-Marie-Tooth disease, type IF [RCV000015076]	pathogenic				Human		name
156013142	CV2039616	variation	NM_006158.4(NEFL):c.1414=	Charcot-Marie-Tooth disease type 2E [RCV002756794]	pathogenic				Human		name
8564008	CV29071	duplication	NEFL, 13-BP DUP/INS, NT61	Charcot-Marie-Tooth disease type 2E [RCV000015077]	pathogenic				Human		name
12905581	CV413773	deletion	NM_006158.5(NEFL):c.*6del	not provided [RCV000487701]	uncertain significance	8	24952804	24952804	Human		name
34889637	CV905216	single nucleotide variant	NM_006158.5(NEFL):c.*2C>A	Charcot-Marie-Tooth disease [RCV001172738]\|not provided [RCV002225803]	likely benign\|uncertain significance	8	24952808	24952808	Human	1	name
11661537	CV305007	single nucleotide variant	NM_006158.5(NEFL):c.-68T>A	Charcot-Marie-Tooth disease type 1F [RCV000377265]	uncertain significance	8	24956583	24956583	Human	1	name
11604205	CV308702	single nucleotide variant	NM_006158.5(NEFL):c.*82T>A	Charcot-Marie-Tooth disease type 1F [RCV000307000]	benign\|likely benign	8	24952728	24952728	Human	1	name
11609130	CV313938	single nucleotide variant	NM_006158.5(NEFL):c.*51A>G	Charcot-Marie-Tooth disease type 1F [RCV000364047]	uncertain significance	8	24952759	24952759	Human	1	name
12839557	CV371774	single nucleotide variant	NM_006158.5(NEFL):c.-37A>C	not specified [RCV000429034]	likely benign	8	24956552	24956552	Human		name
11599955	CV304980	single nucleotide variant	NM_006158.5(NEFL):c.*883G>C	Charcot-Marie-Tooth disease, type I [RCV000269943]	likely benign	8	24951927	24951927	Human	1	name
11606073	CV304983	single nucleotide variant	NM_006158.5(NEFL):c.*878A>G	Charcot-Marie-Tooth disease type 1F [RCV000327322]	benign\|likely benign	8	24951932	24951932	Human	1	name
11660356	CV304984	single nucleotide variant	NM_006158.5(NEFL):c.*856T>C	Charcot-Marie-Tooth disease type 1F [RCV000366069]	uncertain significance	8	24951954	24951954	Human	1	name
11599301	CV304991	single nucleotide variant	NM_006158.5(NEFL):c.*687G>C	Charcot-Marie-Tooth disease, type I [RCV000264408]\|not provided [RCV004712562]	benign	8	24952123	24952123	Human	1	name
11661693	CV304992	deletion	NM_006158.5(NEFL):c.*565del	Charcot-Marie-Tooth disease, type I [RCV000378901]	uncertain significance	8	24952245	24952245	Human	1	name
11607027	CV305004	single nucleotide variant	NM_006158.5(NEFL):c.*378A>G	Charcot-Marie-Tooth disease, type I [RCV000338445]\|not provided [RCV004705464]	likely benign	8	24952432	24952432	Human	1	name
11602829	CV305005	single nucleotide variant	NM_006158.5(NEFL):c.*235A>T	Charcot-Marie-Tooth disease, type I [RCV000294023]\|not provided [RCV001718784]	benign	8	24952575	24952575	Human	1	name
11654975	CV308670	single nucleotide variant	NM_006158.5(NEFL):c.*577T>C	Charcot-Marie-Tooth disease type 1F [RCV000321938]	uncertain significance	8	24952233	24952233	Human	1	name
11601942	CV308671	single nucleotide variant	NM_006158.5(NEFL):c.*486T>G	Charcot-Marie-Tooth disease type 1F [RCV000286843]	benign\|likely benign	8	24952324	24952324	Human	1	name
11605128	CV308674	single nucleotide variant	NM_006158.5(NEFL):c.*485A>G	Charcot-Marie-Tooth disease, type I [RCV000316144]	likely benign	8	24952325	24952325	Human	1	name
11609827	CV308688	single nucleotide variant	NM_006158.5(NEFL):c.*426G>A	Charcot-Marie-Tooth disease, type I [RCV000373061]\|not provided [RCV004712563]	benign	8	24952384	24952384	Human	1	name
11611808	CV308698	single nucleotide variant	NM_006158.5(NEFL):c.*244A>G	Charcot-Marie-Tooth disease type 1F [RCV000400041]	benign\|likely benign	8	24952566	24952566	Human	1	name
11611109	CV308700	single nucleotide variant	NM_006158.5(NEFL):c.*101A>G	Charcot-Marie-Tooth disease type 1F [RCV000389986]\|not provided [RCV001576225]	benign\|likely benign	8	24952709	24952709	Human	1	name
11658736	CV313844	single nucleotide variant	NM_006158.5(NEFL):c.*171C>G	Charcot-Marie-Tooth disease type 1F [RCV000351230]	uncertain significance	8	24952639	24952639	Human	1	name
14716380	CV662832	single nucleotide variant	NM_006158.4(NEFL):c.-176C>A	Charcot-Marie-Tooth disease type 1F [RCV001162499]\|not provided [RCV000829710]	benign	8	24956691	24956691	Human	1	name
14705699	CV663383	single nucleotide variant	NM_006158.3(NEFL):c.-374A>G	not provided [RCV000826278]	benign	8	24956889	24956889	Human		name
28909643	CV899367	single nucleotide variant	NM_006158.5(NEFL):c.*436T>G	Charcot-Marie-Tooth disease type 1F [RCV001160772]	likely benign	8	24952374	24952374	Human	1	name
28868450	CV899377	single nucleotide variant	NM_006158.4(NEFL):c.-183C>G	Charcot-Marie-Tooth disease type 1F [RCV001162500]	benign	8	24956698	24956698	Human	1	name
28868452	CV899378	single nucleotide variant	NM_006158.4(NEFL):c.-248C>G	Charcot-Marie-Tooth disease type 1F [RCV001162501]	uncertain significance	8	24956763	24956763	Human	1	name
28872732	CV899379	single nucleotide variant	NM_006158.4(NEFL):c.-258C>G	Charcot-Marie-Tooth disease type 1F [RCV001164539]\|not provided [RCV004695067]	uncertain significance	8	24956773	24956773	Human	1	name
11610089	CV304957	single nucleotide variant	NM_006158.5(NEFL):c.*1643G>A	Charcot-Marie-Tooth disease, type I [RCV000376650]\|not provided [RCV004707198]	likely benign	8	24951167	24951167	Human	1	name
11603218	CV304959	single nucleotide variant	NM_006158.5(NEFL):c.*1344G>A	Charcot-Marie-Tooth disease type 1F [RCV000297649]	benign\|likely benign	8	24951466	24951466	Human	1	name
11604623	CV304973	single nucleotide variant	NM_006158.5(NEFL):c.*1256G>A	Charcot-Marie-Tooth disease, type I [RCV000311138]\|not provided [RCV004712561]	benign	8	24951554	24951554	Human	1	name
11609415	CV304974	single nucleotide variant	NM_006158.5(NEFL):c.*1198G>C	Charcot-Marie-Tooth disease, type I [RCV000368106]\|not provided [RCV004705461]	likely benign	8	24951612	24951612	Human	1	name
11611294	CV304975	single nucleotide variant	NM_006158.5(NEFL):c.*1155T>G	Charcot-Marie-Tooth disease, type I [RCV000392666]\|not provided [RCV004705462]	likely benign	8	24951655	24951655	Human	1	name
11608992	CV304979	single nucleotide variant	NM_006158.5(NEFL):c.*1100C>T	Charcot-Marie-Tooth disease, type I [RCV000362239]\|not provided [RCV004707199]	likely benign	8	24951710	24951710	Human	1	name
11663842	CV308667	single nucleotide variant	NM_006158.5(NEFL):c.*1342A>G	Charcot-Marie-Tooth disease type 1F [RCV000399540]	uncertain significance	8	24951468	24951468	Human	1	name
11602406	CV313921	single nucleotide variant	NM_006158.5(NEFL):c.*1806T>C	Charcot-Marie-Tooth disease type 1F [RCV000290458]	benign\|likely benign	8	24951004	24951004	Human	1	name
11658304	CV313922	single nucleotide variant	NM_006158.5(NEFL):c.*1744T>C	Charcot-Marie-Tooth disease type 1F [RCV000347797]	uncertain significance	8	24951066	24951066	Human	1	name
11657547	CV313923	single nucleotide variant	NM_006158.5(NEFL):c.*1482C>T	Charcot-Marie-Tooth disease type 1F [RCV000342033]	uncertain significance	8	24951328	24951328	Human	1	name
11664070	CV313931	single nucleotide variant	NM_006158.5(NEFL):c.*1349T>G	Charcot-Marie-Tooth disease type 1F [RCV000402325]	uncertain significance	8	24951461	24951461	Human	1	name
11604944	CV313937	single nucleotide variant	NM_006158.5(NEFL):c.*1107C>T	Charcot-Marie-Tooth disease, type I [RCV000314514]\|not provided [RCV004705463]	likely benign	8	24951703	24951703	Human	1	name
8622545	CV77566	microsatellite	NM_006158.5(NEFL):c.-54TC[3]	not provided [RCV000057111]	not provided	8	24956562	24956563	Human		name
28909514	CV899361	single nucleotide variant	NM_006158.5(NEFL):c.*1464A>G	Charcot-Marie-Tooth disease type 1F [RCV001160677]	uncertain significance	8	24951346	24951346	Human	1	name
28909516	CV899362	single nucleotide variant	NM_006158.5(NEFL):c.*1383C>T	Charcot-Marie-Tooth disease type 1F [RCV001160678]	uncertain significance	8	24951427	24951427	Human	1	name
28868113	CV899364	single nucleotide variant	NM_006158.5(NEFL):c.*1293A>G	Charcot-Marie-Tooth disease type 1F [RCV001162289]	benign	8	24951517	24951517	Human	1	name
28872286	CV899365	single nucleotide variant	NM_006158.5(NEFL):c.*1153T>G	Charcot-Marie-Tooth disease type 1F [RCV001164322]	uncertain significance	8	24951657	24951657	Human	1	name
28872288	CV899366	single nucleotide variant	NM_006158.5(NEFL):c.*1101G>A	Charcot-Marie-Tooth disease type 1F [RCV001164323]	uncertain significance	8	24951709	24951709	Human	1	name
127267356	CV1075275	single nucleotide variant	NM_006158.5(NEFL):c.1044+9C>A	Charcot-Marie-Tooth disease type 2E [RCV001404070]	likely benign	8	24955463	24955463	Human	1	name
151807442	CV1417700	single nucleotide variant	NM_006158.5(NEFL):c.1170-3C>T	Charcot-Marie-Tooth disease type 2E [RCV001867683]	uncertain significance	8	24953798	24953798	Human	1	name
152139758	CV1562872	single nucleotide variant	NM_006158.5(NEFL):c.1169+8T>C	Charcot-Marie-Tooth disease type 2E [RCV002100609]	likely benign	8	24954173	24954173	Human	1	name
156047088	CV1914873	single nucleotide variant	NM_006158.5(NEFL):c.1044+2T>G	Charcot-Marie-Tooth disease type 2E [RCV002620475]	likely pathogenic	8	24955470	24955470	Human	1	name
597677132	CV3730893	single nucleotide variant	NM_006158.5(NEFL):c.1044+4C>G	not provided [RCV004997780]	uncertain significance	8	24955468	24955468	Human		name
597830880	CV3743613	single nucleotide variant	NM_006158.5(NEFL):c.1490-7G>A	Charcot-Marie-Tooth disease type 2E [RCV005062430]	likely benign	8	24952959	24952959	Human	1	name
597917388	CV3789564	single nucleotide variant	NM_006158.5(NEFL):c.1045-3C>T	Charcot-Marie-Tooth disease type 2E [RCV005129659]	uncertain significance	8	24954308	24954308	Human	1	name
13489817	CV444270	single nucleotide variant	NM_006158.5(NEFL):c.1045-2A>G	not provided [RCV000524009]	uncertain significance	8	24954307	24954307	Human		name
13801763	CV564967	single nucleotide variant	NM_006158.5(NEFL):c.1044+5G>C	Charcot-Marie-Tooth disease type 2E [RCV000697991]\|Inborn genetic diseases [RCV004026422]	uncertain significance	8	24955467	24955467	Human	2	name
15108594	CV683121	single nucleotide variant	NM_006158.5(NEFL):c.1169+3G>A	Charcot-Marie-Tooth disease [RCV000857197]	uncertain significance	8	24954178	24954178	Human	1	name
26889699	CV851682	single nucleotide variant	NM_006158.5(NEFL):c.1489+6A>T	Charcot-Marie-Tooth disease type 2E [RCV001068663]	uncertain significance	8	24953470	24953470	Human	1	name
8692247	CV142213	single nucleotide variant	NM_006158.5(NEFL):c.1170-13T>C	Charcot-Marie-Tooth disease [RCV001173734]\|Charcot-Marie-Tooth disease type 2E [RCV002055713]\|Charcot-Marie-Tooth disease, type I [RCV000316969]\|not provided [RCV004704983]\|not specified [RCV000127189]	benign\|likely benign	8	24953808	24953808	Human	3	name
152111808	CV1532115	single nucleotide variant	NM_006158.5(NEFL):c.1045-17T>A	Charcot-Marie-Tooth disease type 2E [RCV002116641]	likely benign	8	24954322	24954322	Human	1	name
152154503	CV1593043	single nucleotide variant	NM_006158.5(NEFL):c.1044+19C>T	Charcot-Marie-Tooth disease type 2E [RCV002202476]	likely benign	8	24955453	24955453	Human	1	name
152174370	CV1601831	single nucleotide variant	NM_006158.5(NEFL):c.1044+16A>G	Charcot-Marie-Tooth disease type 2E [RCV002144414]	likely benign	8	24955456	24955456	Human	1	name
156182955	CV1924571	single nucleotide variant	NM_006158.5(NEFL):c.1044+15G>C	Charcot-Marie-Tooth disease type 2E [RCV002625105]	likely benign\|uncertain significance	8	24955457	24955457	Human	1	name
405005158	CV2889454	single nucleotide variant	NM_006158.5(NEFL):c.1489+16A>T	Charcot-Marie-Tooth disease type 2E [RCV003514258]	likely benign	8	24953460	24953460	Human	1	name
405024597	CV2894279	single nucleotide variant	NM_006158.5(NEFL):c.1489+17C>G	Charcot-Marie-Tooth disease type 2E [RCV003516251]	likely benign	8	24953459	24953459	Human	1	name
402521331	CV2967930	single nucleotide variant	NM_006158.5(NEFL):c.1045-14T>C	Charcot-Marie-Tooth disease type 2E [RCV003630232]	likely benign	8	24954319	24954319	Human	1	name
405120071	CV3116458	single nucleotide variant	NM_006158.5(NEFL):c.1169+20G>T	Charcot-Marie-Tooth disease type 2E [RCV003814759]	likely benign	8	24954161	24954161	Human	1	name
597934399	CV3793579	single nucleotide variant	NM_006158.5(NEFL):c.1044+14A>C	Charcot-Marie-Tooth disease type 2E [RCV005132235]	likely benign	8	24955458	24955458	Human	1	name
597885079	CV3799701	single nucleotide variant	NM_006158.5(NEFL):c.1044+17A>C	Charcot-Marie-Tooth disease type 2E [RCV005150368]	likely benign	8	24955455	24955455	Human	1	name
597939795	CV3818722	single nucleotide variant	NM_006158.5(NEFL):c.1169+12G>A	Charcot-Marie-Tooth disease type 2E [RCV005158728]	likely benign	8	24954169	24954169	Human	1	name
597962530	CV3841012	duplication	NM_006158.5(NEFL):c.1489+16dup	Charcot-Marie-Tooth disease type 2E [RCV005193305]	benign	8	24953459	24953460	Human	1	name
597870728	CV3849202	single nucleotide variant	NM_006158.5(NEFL):c.1170-16G>A	Charcot-Marie-Tooth disease type 2E [RCV005197383]	likely benign	8	24953811	24953811	Human	1	name
597967318	CV3855781	single nucleotide variant	NM_006158.5(NEFL):c.1044+10G>C	Charcot-Marie-Tooth disease type 2E [RCV005194761]	likely benign	8	24955462	24955462	Human	1	name
13525492	CV502001	single nucleotide variant	NM_006158.5(NEFL):c.1044+20A>T	Charcot-Marie-Tooth disease type 2E [RCV002064374]\|not specified [RCV000603215]	benign\|likely benign	8	24955452	24955452	Human	1	name
14725647	CV663342	single nucleotide variant	NM_006158.5(NEFL):c.1044+46G>A	not provided [RCV000833529]	likely benign	8	24955426	24955426	Human		name
14730007	CV663344	single nucleotide variant	NM_006158.5(NEFL):c.1044+39G>C	not provided [RCV000835480]	benign	8	24955433	24955433	Human		name
8622546	CV77567	duplication	NM_006158.5(NEFL):c.1045-19dup	not provided [RCV000057112]	not provided	8	24954323	24954324	Human		name
34889789	CV905613	single nucleotide variant	NM_006158.5(NEFL):c.1170-19C>T	Charcot-Marie-Tooth disease [RCV001173050]\|Charcot-Marie-Tooth disease type 2E [RCV002558746]	likely benign\|uncertain significance	8	24953814	24953814	Human	2	name
34889793	CV905614	single nucleotide variant	NM_006158.5(NEFL):c.1169+14G>A	Charcot-Marie-Tooth disease [RCV001173057]\|Charcot-Marie-Tooth disease type 2E [RCV002557483]	likely benign	8	24954167	24954167	Human	2	name
150477087	CV1203137	single nucleotide variant	NM_006158.5(NEFL):c.1490-193C>T	not provided [RCV001589731]	likely benign	8	24953145	24953145	Human		name
150479107	CV1207781	single nucleotide variant	NM_006158.5(NEFL):c.1044+149G>C	not provided [RCV001590057]	likely benign	8	24955323	24955323	Human		name
11601273	CV305003	deletion	NM_006158.5(NEFL):c.407_408del	Charcot-Marie-Tooth disease, type I [RCV000280884]	likely benign	8	24952402	24952403	Human	1	name
11648971	CV304958	deletion	NM_006158.5(NEFL):c.1609_1612del	Charcot-Marie-Tooth disease, type I [RCV000284586]	uncertain significance	8	24951198	24951201	Human	1	name
11656820	CV313936	deletion	NM_006158.5(NEFL):c.1340_1342del	Charcot-Marie-Tooth disease, type I [RCV000336287]	uncertain significance	8	24951468	24951470	Human	1	name
127233413	CV1075279	single nucleotide variant	NM_006158.5(NEFL):c.48G>A (p.Arg16=)	Charcot-Marie-Tooth disease type 2E [RCV001396103]	likely benign	8	24956468	24956468	Human	1	name
152106796	CV1577713	single nucleotide variant	NM_006158.5(NEFL):c.63G>T (p.Thr21=)	Charcot-Marie-Tooth disease type 2E [RCV002096282]	likely benign	8	24956453	24956453	Human	1	name
155800919	CV1863914	single nucleotide variant	NM_006158.5(NEFL):c.66C>T (p.Pro22=)	Charcot-Marie-Tooth disease type 2E [RCV002571515]\|not provided [RCV002474337]	likely benign\|uncertain significance	8	24956450	24956450	Human	1	name
156012396	CV2035681	single nucleotide variant	NM_006158.5(NEFL):c.78C>A (p.Ile26=)	Charcot-Marie-Tooth disease type 2E [RCV002795169]	likely benign\|uncertain significance	8	24956438	24956438	Human	1	name
402513626	CV3063592	single nucleotide variant	NM_006158.5(NEFL):c.54C>T (p.Tyr18=)	Charcot-Marie-Tooth disease type 2E [RCV003629650]	likely benign	8	24956462	24956462	Human	1	name
402513635	CV3063593	single nucleotide variant	NM_006158.5(NEFL):c.48G>C (p.Arg16=)	Charcot-Marie-Tooth disease type 2E [RCV003629651]	likely benign	8	24956468	24956468	Human	1	name
405278899	CV3212740	single nucleotide variant	NM_006158.5(NEFL):c.84C>T (p.Ser28=)	NEFL-related disorder [RCV003954759]	likely benign	8	24956432	24956432	Human		name , trait , alternate_id
597652402	CV3730660	single nucleotide variant	NM_006158.5(NEFL):c.81C>A (p.Ser27=)	not provided [RCV005000950]	uncertain significance	8	24956435	24956435	Human		name
598224926	CV3894181	single nucleotide variant	NM_006158.5(NEFL):c.33G>A (p.Ser11=)	not provided [RCV005257424]	likely benign	8	24956483	24956483	Human		name
15158131	CV687261	single nucleotide variant	NM_006158.5(NEFL):c.36C>T (p.Thr12=)	Charcot-Marie-Tooth disease type 2E [RCV001409857]	likely benign	8	24956480	24956480	Human	1	name
8622544	CV77565	indel	NM_006158.5(NEFL):c.-44_-42delinsATG	not provided [RCV000057110]	not provided	8	24956557	24956559	Human		name
8622568	CV77590	single nucleotide variant	NM_006158.5(NEFL):c.45G>A (p.Lys15=)	Charcot-Marie-Tooth disease type 1F [RCV001162498]\|Charcot-Marie-Tooth disease type 2E [RCV002513733]\|not provided [RCV000057140]	likely benign\|uncertain significance\|not provided	8	24956471	24956471	Human	2	name
15101249	CV783078	single nucleotide variant	NM_006158.5(NEFL):c.30C>T (p.Tyr10=)	Charcot-Marie-Tooth disease type 2E [RCV000975552]	likely benign	8	24956486	24956486	Human	1	name
127254563	CV1075278	single nucleotide variant	NM_006158.5(NEFL):c.147C>G (p.Ser49=)	Charcot-Marie-Tooth disease type 2E [RCV001400830]	likely benign	8	24956369	24956369	Human	1	name
151348564	CV1324095	single nucleotide variant	NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	Charcot-Marie-Tooth disease type 1F [RCV001808008]	pathogenic\|likely pathogenic	8	24956498	24956498	Human	1	name
151754039	CV1391129	single nucleotide variant	NM_006158.5(NEFL):c.22C>G (p.Pro8Ala)	Charcot-Marie-Tooth disease type 2E [RCV001969489]	uncertain significance	8	24956494	24956494	Human	1	name
151739777	CV1492359	single nucleotide variant	NM_006158.5(NEFL):c.26A>G (p.Tyr9Cys)	Charcot-Marie-Tooth disease type 2E [RCV002042117]	uncertain significance	8	24956490	24956490	Human	1	name
152095340	CV1534003	single nucleotide variant	NM_006158.5(NEFL):c.264G>A (p.Thr88=)	Charcot-Marie-Tooth disease type 2E [RCV002151130]	likely benign	8	24956252	24956252	Human	1	name
152060540	CV1557310	single nucleotide variant	NM_006158.5(NEFL):c.174C>T (p.Ser58=)	Charcot-Marie-Tooth disease type 2E [RCV002146719]\|not specified [RCV004999648]	likely benign	8	24956342	24956342	Human	1	name
152065906	CV1583567	single nucleotide variant	NM_006158.5(NEFL):c.219G>A (p.Leu73=)	Charcot-Marie-Tooth disease type 2E [RCV002110787]	likely benign	8	24956297	24956297	Human	1	name
152027595	CV1628927	single nucleotide variant	NM_006158.5(NEFL):c.231C>G (p.Ala77=)	Charcot-Marie-Tooth disease type 2E [RCV002104946]	likely benign	8	24956285	24956285	Human	1	name
156124233	CV2124812	single nucleotide variant	NM_006158.5(NEFL):c.105C>T (p.Thr35=)	Charcot-Marie-Tooth disease type 2E [RCV002953620]	likely benign	8	24956411	24956411	Human	1	name
11639385	CV271257	single nucleotide variant	NM_006158.5(NEFL):c.22C>A (p.Pro8Thr)	Charcot-Marie-Tooth disease [RCV000789666]\|Charcot-Marie-Tooth disease type 2E [RCV001067080]\|not provided [RCV000319997]	pathogenic\|uncertain significance	8	24956494	24956494	Human	2	name
405004245	CV2892545	single nucleotide variant	NM_006158.5(NEFL):c.288C>T (p.Asp96=)	Charcot-Marie-Tooth disease type 2E [RCV003514160]	likely benign	8	24956228	24956228	Human	1	name
405045141	CV2993647	single nucleotide variant	NM_006158.5(NEFL):c.210C>T (p.Asn70=)	Charcot-Marie-Tooth disease type 2E [RCV003630740]	likely benign	8	24956306	24956306	Human	1	name
402509197	CV3048440	single nucleotide variant	NM_006158.5(NEFL):c.108A>G (p.Ala36=)	Charcot-Marie-Tooth disease type 2E [RCV003629065]	likely benign	8	24956408	24956408	Human	1	name
402513619	CV3063591	single nucleotide variant	NM_006158.5(NEFL):c.114A>T (p.Ser38=)	Charcot-Marie-Tooth disease type 2E [RCV003629649]	likely benign	8	24956402	24956402	Human	1	name
11655052	CV308708	single nucleotide variant	NM_006158.5(NEFL):c.141G>A (p.Val47=)	Charcot-Marie-Tooth disease type 1F [RCV000322687]\|Charcot-Marie-Tooth disease type 2E [RCV005090600]	likely benign\|uncertain significance	8	24956375	24956375	Human	2	name
405283484	CV3191396	single nucleotide variant	NM_006158.5(NEFL):c.282C>T (p.Leu94=)	NEFL-related disorder [RCV003921786]	likely benign	8	24956234	24956234	Human		name , trait , alternate_id
405261437	CV3221541	single nucleotide variant	NM_006158.5(NEFL):c.228A>G (p.Val76=)	Charcot-Marie-Tooth disease type 2E [RCV005103018]\|NEFL-related disorder [RCV003967004]	likely benign	8	24956288	24956288	Human	1	name , trait , alternate_id
597968805	CV3821257	single nucleotide variant	NM_006158.5(NEFL):c.231C>T (p.Ala77=)	Charcot-Marie-Tooth disease type 2E [RCV005165899]	likely benign	8	24956285	24956285	Human	1	name
597957998	CV3849036	single nucleotide variant	NM_006158.5(NEFL):c.264G>C (p.Thr88=)	Charcot-Marie-Tooth disease type 2E [RCV005192037]	likely benign	8	24956252	24956252	Human	1	name
12885826	CV396514	single nucleotide variant	NM_006158.5(NEFL):c.207G>A (p.Glu69=)	Charcot-Marie-Tooth disease type 2E [RCV000466117]	likely benign	8	24956309	24956309	Human	1	name
13804493	CV562795	single nucleotide variant	NM_006158.5(NEFL):c.22C>T (p.Pro8Ser)	Charcot-Marie-Tooth disease type 2E [RCV000699633]	uncertain significance	8	24956494	24956494	Human	1	name
14700434	CV625155	single nucleotide variant	NM_006158.5(NEFL):c.192G>A (p.Leu64=)	not specified [RCV000790246]	benign	8	24956324	24956324	Human		name
8622550	CV77571	single nucleotide variant	NM_006158.5(NEFL):c.123C>T (p.Ser41=)	Charcot-Marie-Tooth disease type 2E [RCV002054900]\|not provided [RCV000057116]	likely benign\|not provided	8	24956393	24956393	Human	1	name
8622558	CV77580	single nucleotide variant	NM_006158.5(NEFL):c.189G>A (p.Ser63=)	not provided [RCV000057125]	not provided	8	24956327	24956327	Human		name
8622559	CV77581	single nucleotide variant	NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)	Charcot-Marie-Tooth disease [RCV000789662]\|Charcot-Marie-Tooth disease type 1F [RCV005394291]\|Charcot-Marie-Tooth disease type 2E [RCV005055556]\|not provided [RCV000057126]	likely benign\|uncertain significance\|not provided	8	24956497	24956497	Human	3	name
8622562	CV77584	single nucleotide variant	NM_006158.5(NEFL):c.23C>A (p.Pro8Gln)	Charcot-Marie-Tooth disease [RCV001174358]\|not provided [RCV000057130]	pathogenic\|not provided	8	24956493	24956493	Human	1	name
8622563	CV77585	single nucleotide variant	NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	Charcot-Marie-Tooth disease [RCV000789663]\|Charcot-Marie-Tooth disease type 2E [RCV000234847]\|Inborn genetic diseases [RCV002426613]\|not provided [RCV000057131]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	8	24956493	24956493	Human	3	name
8622564	CV77586	single nucleotide variant	NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)	Charcot-Marie-Tooth disease type 2E [RCV001235472]\|Inborn genetic diseases [RCV003278661]\|not provided [RCV000057132]	pathogenic\|likely pathogenic\|not provided	8	24956493	24956493	Human	2	name
8622566	CV77588	single nucleotide variant	NM_006158.5(NEFL):c.279G>A (p.Gln93=)	Charcot-Marie-Tooth disease type 2E [RCV002054902]\|NEFL-related disorder [RCV003905024]\|not provided [RCV000057134]\|not specified [RCV000789602]	benign\|likely benign\|uncertain significance\|not provided	8	24956237	24956237	Human	1	name , trait , alternate_id
126735495	CV1007952	single nucleotide variant	NM_006158.5(NEFL):c.68G>C (p.Arg23Pro)	Charcot-Marie-Tooth disease type 2E [RCV001316574]	uncertain significance	8	24956448	24956448	Human	1	name
126909932	CV1036678	single nucleotide variant	NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter)	Charcot-Marie-Tooth disease type 1F [RCV001353164]	likely pathogenic	8	24956462	24956462	Human	1	name
126913388	CV1045444	single nucleotide variant	NM_006158.5(NEFL):c.64C>G (p.Pro22Ala)	Charcot-Marie-Tooth disease type 2E [RCV001359155]	uncertain significance	8	24956452	24956452	Human	1	name
127262572	CV1075276	single nucleotide variant	NM_006158.5(NEFL):c.957C>A (p.Ile319=)	Charcot-Marie-Tooth disease type 2E [RCV001402679]	likely benign	8	24955559	24955559	Human	1	name
127260214	CV1075277	single nucleotide variant	NM_006158.5(NEFL):c.906G>A (p.Lys302=)	Charcot-Marie-Tooth disease type 2E [RCV001420001]	likely benign	8	24955610	24955610	Human	1	name
127269988	CV1096945	single nucleotide variant	NM_006158.5(NEFL):c.945G>A (p.Lys315=)	Charcot-Marie-Tooth disease type 2E [RCV001430444]	likely benign	8	24955571	24955571	Human	1	name
127267103	CV1096946	single nucleotide variant	NM_006158.5(NEFL):c.621C>T (p.Ala207=)	Charcot-Marie-Tooth disease type 2E [RCV001429560]	likely benign	8	24955895	24955895	Human	1	name
127265566	CV1096947	single nucleotide variant	NM_006158.5(NEFL):c.436C>T (p.Leu146=)	Charcot-Marie-Tooth disease type 2E [RCV001429122]	likely benign	8	24956080	24956080	Human	1	name
127336273	CV1118491	single nucleotide variant	NM_006158.5(NEFL):c.903C>T (p.Ala301=)	Charcot-Marie-Tooth disease type 2E [RCV001474857]	likely benign	8	24955613	24955613	Human	1	name
127330271	CV1139368	single nucleotide variant	NM_006158.5(NEFL):c.891C>T (p.Ala297=)	Charcot-Marie-Tooth disease type 2E [RCV001487997]	likely benign	8	24955625	24955625	Human	1	name
127313654	CV1139369	single nucleotide variant	NM_006158.5(NEFL):c.597C>T (p.Ala199=)	Charcot-Marie-Tooth disease type 2E [RCV001502227]	likely benign	8	24955919	24955919	Human	1	name
127291204	CV1139370	single nucleotide variant	NM_006158.5(NEFL):c.372G>A (p.Val124=)	Charcot-Marie-Tooth disease type 2E [RCV001496167]	likely benign	8	24956144	24956144	Human	1	name
150481670	CV1265664	single nucleotide variant	NM_006158.5(NEFL):c.65C>T (p.Pro22Leu)	Charcot-Marie-Tooth disease type 2E [RCV002539681]\|not provided [RCV001682660]	likely pathogenic\|uncertain significance	8	24956451	24956451	Human	1	name
151813167	CV1343768	single nucleotide variant	NM_006158.5(NEFL):c.55G>A (p.Val19Met)	Charcot-Marie-Tooth disease type 2E [RCV001918818]	uncertain significance	8	24956461	24956461	Human	1	name
151881691	CV1375694	single nucleotide variant	NM_006158.5(NEFL):c.79T>C (p.Ser27Pro)	Charcot-Marie-Tooth disease type 2E [RCV001961779]	uncertain significance	8	24956437	24956437	Human	1	name
151761798	CV1393337	single nucleotide variant	NM_006158.5(NEFL):c.876C>T (p.Ala292=)	Charcot-Marie-Tooth disease type 2E [RCV001949233]	likely benign	8	24955640	24955640	Human	1	name
151766164	CV1406369	single nucleotide variant	NM_006158.5(NEFL):c.834A>G (p.Glu278=)	Charcot-Marie-Tooth disease type 2E [RCV001949698]	likely benign	8	24955682	24955682	Human	1	name
151730228	CV1515949	single nucleotide variant	NM_006158.5(NEFL):c.390C>G (p.Ser130=)	Charcot-Marie-Tooth disease type 2E [RCV001984121]	likely benign	8	24956126	24956126	Human	1	name
152149732	CV1545441	single nucleotide variant	NM_006158.5(NEFL):c.777G>A (p.Lys259=)	Charcot-Marie-Tooth disease type 2E [RCV002121572]	likely benign	8	24955739	24955739	Human	1	name
152088293	CV1577188	single nucleotide variant	NM_006158.5(NEFL):c.936C>T (p.Leu312=)	Charcot-Marie-Tooth disease type 2E [RCV002212369]	likely benign	8	24955580	24955580	Human	1	name
152983145	CV1677981	single nucleotide variant	NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)	Charcot-Marie-Tooth disease type 2E [RCV002250136]	pathogenic	8	24956462	24956462	Human	1	name
153305276	CV1687654	single nucleotide variant	NM_006158.5(NEFL):c.447G>A (p.Ala149=)	not provided [RCV002263475]	likely benign	8	24956069	24956069	Human		name
155714835	CV1820877	single nucleotide variant	NM_006158.5(NEFL):c.85G>T (p.Val29Leu)	Charcot-Marie-Tooth disease type 2E [RCV005097264]\|Inborn genetic diseases [RCV002447992]	uncertain significance	8	24956431	24956431	Human	2	name
156001244	CV1872877	single nucleotide variant	NM_006158.5(NEFL):c.873C>A (p.Ala291=)	Charcot-Marie-Tooth disease type 2E [RCV003076596]	likely benign\|uncertain significance	8	24955643	24955643	Human	1	name
156132104	CV1885592	single nucleotide variant	NM_006158.5(NEFL):c.918C>T (p.Ser306=)	Charcot-Marie-Tooth disease type 2E [RCV003081878]	likely benign	8	24955598	24955598	Human	1	name
156066009	CV1952244	single nucleotide variant	NM_006158.5(NEFL):c.786C>T (p.Arg262=)	Peripheral neuropathy [RCV002569456]	uncertain significance	8	24955730	24955730	Human	2	name
156121084	CV2039551	single nucleotide variant	NM_006158.5(NEFL):c.738G>A (p.Glu246=)	Charcot-Marie-Tooth disease type 2E [RCV002800227]	likely benign\|uncertain significance	8	24955778	24955778	Human	1	name
155990840	CV2049527	single nucleotide variant	NM_006158.5(NEFL):c.648G>A (p.Leu216=)	Charcot-Marie-Tooth disease type 2E [RCV002819196]	likely benign\|uncertain significance	8	24955868	24955868	Human	1	name
156016740	CV2083487	single nucleotide variant	NM_006158.5(NEFL):c.705G>A (p.Gln235=)	Charcot-Marie-Tooth disease type 2E [RCV002866398]	likely benign\|uncertain significance	8	24955811	24955811	Human	1	name
156297316	CV2108610	single nucleotide variant	NM_006158.5(NEFL):c.489G>A (p.Glu163=)	Charcot-Marie-Tooth disease type 2E [RCV002922408]\|not specified [RCV004999830]	likely benign	8	24956027	24956027	Human	1	name
155991015	CV2151291	single nucleotide variant	NM_006158.5(NEFL):c.531C>T (p.Arg177=)	Charcot-Marie-Tooth disease type 2E [RCV003016826]	likely benign\|uncertain significance	8	24955985	24955985	Human	1	name
156093750	CV2167217	single nucleotide variant	NM_006158.5(NEFL):c.789G>A (p.Ala263=)	Charcot-Marie-Tooth disease type 2E [RCV003038314]	likely benign\|uncertain significance	8	24955727	24955727	Human	1	name
10767629	CV221759	single nucleotide variant	NM_006158.5(NEFL):c.65C>A (p.Pro22His)	Charcot-Marie-Tooth disease type 1F [RCV004796100]\|Charcot-Marie-Tooth disease type 2E [RCV000205038]\|not provided [RCV004998422]	pathogenic\|likely pathogenic\|uncertain significance	8	24956451	24956451	Human	2	name
11348333	CV240337	single nucleotide variant	NM_006158.5(NEFL):c.780C>T (p.Asp260=)	Charcot-Marie-Tooth disease type 2E [RCV000226239]	likely benign	8	24955736	24955736	Human	1	name
401925753	CV2820971	single nucleotide variant	NM_006158.5(NEFL):c.621C>A (p.Ala207=)	not provided [RCV003436812]	likely benign	8	24955895	24955895	Human		name
8564005	CV29068	single nucleotide variant	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	Charcot-Marie-Tooth disease type 1C [RCV000194357]\|Charcot-Marie-Tooth disease type 1F [RCV001196666]\|Charcot-Marie-Tooth disease type 2E [RCV000015073]\|Decreased nerve conduction velocity [RCV000414916]\|Inborn genetic diseases [RCV002362585]\|Pes cavus [RCV000415401]\|not provided [RCV000057144]	pathogenic\|likely pathogenic\|not provided	8	24956452	24956452	Human	14	name
402510017	CV2939865	single nucleotide variant	NM_006158.5(NEFL):c.46C>T (p.Arg16Trp)	Charcot-Marie-Tooth disease type 2E [RCV003629320]	uncertain significance	8	24956470	24956470	Human	1	name
405047192	CV3015806	single nucleotide variant	NM_006158.5(NEFL):c.993G>A (p.Lys331=)	Charcot-Marie-Tooth disease type 2E [RCV003630871]	likely benign	8	24955523	24955523	Human	1	name
402508227	CV3048437	single nucleotide variant	NM_006158.5(NEFL):c.615T>C (p.Ala205=)	Charcot-Marie-Tooth disease type 2E [RCV003629062]	likely benign	8	24955901	24955901	Human	1	name
402508233	CV3048438	single nucleotide variant	NM_006158.5(NEFL):c.609G>T (p.Ala203=)	Charcot-Marie-Tooth disease type 2E [RCV003629063]	likely benign	8	24955907	24955907	Human	1	name
402508241	CV3048439	single nucleotide variant	NM_006158.5(NEFL):c.594C>G (p.Gly198=)	Charcot-Marie-Tooth disease type 2E [RCV003629064]	likely benign	8	24955922	24955922	Human	1	name
402508483	CV3049155	single nucleotide variant	NM_006158.5(NEFL):c.639C>T (p.Ile213=)	Charcot-Marie-Tooth disease type 2E [RCV003629088]	likely benign	8	24955877	24955877	Human	1	name
402507862	CV3051622	single nucleotide variant	NM_006158.5(NEFL):c.88C>A (p.Arg30Ser)	Charcot-Marie-Tooth disease type 2E [RCV003629024]	uncertain significance	8	24956428	24956428	Human	1	name
402514693	CV3068659	single nucleotide variant	NM_006158.5(NEFL):c.94G>C (p.Gly32Arg)	Charcot-Marie-Tooth disease type 2E [RCV003629719]	uncertain significance	8	24956422	24956422	Human	1	name
404992128	CV3176306	single nucleotide variant	NM_006158.5(NEFL):c.636C>T (p.Arg212=)	Charcot-Marie-Tooth disease type 2E [RCV003881631]	likely benign	8	24955880	24955880	Human	1	name
404994192	CV3176528	single nucleotide variant	NM_006158.5(NEFL):c.864C>A (p.Thr288=)	Charcot-Marie-Tooth disease type 2E [RCV003881960]	likely benign	8	24955652	24955652	Human	1	name
402507855	CV3181664	single nucleotide variant	NM_006158.5(NEFL):c.29A>C (p.Tyr10Ser)	Charcot-Marie-Tooth disease type 2E [RCV003878498]	uncertain significance	8	24956487	24956487	Human	1	name
405290009	CV3205727	single nucleotide variant	NM_006158.5(NEFL):c.627C>T (p.Leu209=)	NEFL-related disorder [RCV003962084]	likely benign	8	24955889	24955889	Human		name , trait , alternate_id
405267149	CV3220206	single nucleotide variant	NM_006158.5(NEFL):c.504G>A (p.Glu168=)	NEFL-related disorder [RCV003969459]	likely benign	8	24956012	24956012	Human		name , trait , alternate_id
407526147	CV3454814	single nucleotide variant	NM_006158.5(NEFL):c.77T>A (p.Ile26Asn)	Inborn genetic diseases [RCV004654707]	uncertain significance	8	24956439	24956439	Human	1	name
408384254	CV3526896	single nucleotide variant	NM_006158.5(NEFL):c.55G>C (p.Val19Leu)	not provided [RCV004772209]	uncertain significance	8	24956461	24956461	Human		name
597721489	CV3555846	single nucleotide variant	NM_006158.5(NEFL):c.62C>G (p.Thr21Arg)	Inborn genetic diseases [RCV004961584]	uncertain significance	8	24956454	24956454	Human	1	name
12834944	CV371768	single nucleotide variant	NM_006158.5(NEFL):c.855C>T (p.Thr285=)	Charcot-Marie-Tooth disease [RCV001173053]\|Charcot-Marie-Tooth disease type 2E [RCV000543296]\|not provided [RCV001311326]\|not specified [RCV000420823]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	24955661	24955661	Human	2	name
597887634	CV3741924	single nucleotide variant	NM_006158.5(NEFL):c.798G>A (p.Glu266=)	Charcot-Marie-Tooth disease type 2E [RCV005070644]	likely benign	8	24955718	24955718	Human	1	name
597884194	CV3745446	single nucleotide variant	NM_006158.5(NEFL):c.858G>A (p.Val286=)	Charcot-Marie-Tooth disease type 2E [RCV005070282]	likely benign	8	24955658	24955658	Human	1	name
597865420	CV3823322	single nucleotide variant	NM_006158.5(NEFL):c.549G>C (p.Leu183=)	Charcot-Marie-Tooth disease type 2E [RCV005175672]	likely benign	8	24955967	24955967	Human	1	name
597963652	CV3837716	single nucleotide variant	NM_006158.5(NEFL):c.756C>T (p.Pro252=)	Charcot-Marie-Tooth disease type 2E [RCV005193698]	likely benign	8	24955760	24955760	Human	1	name
597950445	CV3846921	single nucleotide variant	NM_006158.5(NEFL):c.450G>A (p.Ala150=)	Charcot-Marie-Tooth disease type 2E [RCV005190092]	likely benign	8	24956066	24956066	Human	1	name
597887238	CV3859274	single nucleotide variant	NM_006158.5(NEFL):c.59A>C (p.Glu20Ala)	Charcot-Marie-Tooth disease type 2E [RCV005199927]	uncertain significance	8	24956457	24956457	Human	1	name
12880998	CV396501	single nucleotide variant	NM_006158.5(NEFL):c.984G>T (p.Ala328=)	Charcot-Marie-Tooth disease type 2E [RCV000457056]	likely benign	8	24955532	24955532	Human	1	name
13518491	CV486438	single nucleotide variant	NM_006158.5(NEFL):c.520C>T (p.Leu174=)	not provided [RCV000584847]	uncertain significance	8	24955996	24955996	Human		name
8571057	CV49662	single nucleotide variant	NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)	Charcot-Marie-Tooth disease type 1F [RCV000034138]\|not provided [RCV000057143]	pathogenic\|not provided	8	24956452	24956452	Human	1	name
8571058	CV49663	single nucleotide variant	NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)	Charcot-Marie-Tooth disease type 1F [RCV000034139]\|not provided [RCV000057145]	pathogenic\|not provided	8	24956451	24956451	Human	1	name
13609477	CV523414	single nucleotide variant	NM_006158.5(NEFL):c.621C>G (p.Ala207=)	Charcot-Marie-Tooth disease type 2E [RCV000640672]	likely benign	8	24955895	24955895	Human	1	name
13609479	CV523976	single nucleotide variant	NM_006158.5(NEFL):c.352C>T (p.Leu118=)	Charcot-Marie-Tooth disease type 2E [RCV000640673]	likely benign	8	24956164	24956164	Human	1	name
13609473	CV523991	single nucleotide variant	NM_006158.5(NEFL):c.321C>G (p.Arg107=)	Charcot-Marie-Tooth disease [RCV001173054]\|Charcot-Marie-Tooth disease type 2E [RCV000640669]	likely benign	8	24956195	24956195	Human	2	name
13811701	CV562276	single nucleotide variant	NM_006158.5(NEFL):c.58G>A (p.Glu20Lys)	Charcot-Marie-Tooth disease type 2E [RCV000703212]	uncertain significance	8	24956458	24956458	Human	1	name
13813533	CV567747	single nucleotide variant	NM_006158.5(NEFL):c.67C>G (p.Arg23Gly)	Charcot-Marie-Tooth disease type 2E [RCV000690223]\|Inborn genetic diseases [RCV002360736]	uncertain significance	8	24956449	24956449	Human	2	name
15131225	CV683999	single nucleotide variant	NM_006158.5(NEFL):c.873C>T (p.Ala291=)	Charcot-Marie-Tooth disease type 2E [RCV001451046]	likely benign	8	24955643	24955643	Human	1	name
15126275	CV692479	single nucleotide variant	NM_006158.5(NEFL):c.528G>A (p.Ala176=)	Charcot-Marie-Tooth disease type 2E [RCV001444375]	likely benign	8	24955988	24955988	Human	1	name
15158429	CV751082	single nucleotide variant	NM_006158.5(NEFL):c.492C>G (p.Arg164=)	Charcot-Marie-Tooth disease type 2E [RCV001460445]	likely benign	8	24956024	24956024	Human	1	name
15192718	CV766737	single nucleotide variant	NM_006158.5(NEFL):c.816C>T (p.Asn272=)	Charcot-Marie-Tooth disease type 2E [RCV001460508]	likely benign	8	24955700	24955700	Human	1	name
15103173	CV766738	single nucleotide variant	NM_006158.5(NEFL):c.729C>A (p.Ile243=)	Charcot-Marie-Tooth disease type 2E [RCV001418917]	likely benign	8	24955787	24955787	Human	1	name
15195871	CV766739	single nucleotide variant	NM_006158.5(NEFL):c.420G>A (p.Glu140=)	Charcot-Marie-Tooth disease [RCV001173049]\|Charcot-Marie-Tooth disease type 2E [RCV001452943]	likely benign	8	24956096	24956096	Human	2	name
15180032	CV766740	single nucleotide variant	NM_006158.5(NEFL):c.390C>T (p.Ser130=)	Charcot-Marie-Tooth disease type 2E [RCV001503242]	likely benign	8	24956126	24956126	Human	1	name
15100074	CV766741	single nucleotide variant	NM_006158.5(NEFL):c.360C>T (p.Ala120=)	Charcot-Marie-Tooth disease type 2E [RCV000936579]\|NEFL-related disorder [RCV003895695]	likely benign	8	24956156	24956156	Human	1	name , trait , alternate_id
8622567	CV77589	single nucleotide variant	NM_006158.5(NEFL):c.423G>A (p.Gln141=)	Charcot-Marie-Tooth disease [RCV001173048]\|Charcot-Marie-Tooth disease type 2E [RCV001079790]\|not provided [RCV000057138]\|not specified [RCV000609209]	benign\|likely benign\|not provided	8	24956093	24956093	Human	2	name
8622571	CV77593	single nucleotide variant	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	Charcot-Marie-Tooth disease [RCV001173735]\|Charcot-Marie-Tooth disease type 2E [RCV001082849]\|Charcot-Marie-Tooth disease, type I [RCV000352974]\|not provided [RCV000057146]\|not specified [RCV000375590]	benign\|likely benign\|not provided	8	24955849	24955849	Human	3	name
8622572	CV77594	single nucleotide variant	NM_006158.5(NEFL):c.720C>T (p.Tyr240=)	Charcot-Marie-Tooth disease type 2E [RCV002513734]\|not provided [RCV000057147]\|not specified [RCV000789603]	benign\|likely benign\|not provided	8	24955796	24955796	Human	1	name
8622575	CV77597	single nucleotide variant	NM_006158.5(NEFL):c.969G>T (p.Arg323=)	not provided [RCV000057150]	not provided	8	24955547	24955547	Human		name
26889931	CV834560	single nucleotide variant	NM_006158.5(NEFL):c.486C>T (p.Gly162=)	Charcot-Marie-Tooth disease type 2E [RCV001071850]	likely benign\|uncertain significance	8	24956030	24956030	Human	1	name
26887938	CV834564	single nucleotide variant	NM_006158.5(NEFL):c.44A>G (p.Lys15Arg)	Charcot-Marie-Tooth disease type 2E [RCV001040850]\|Inborn genetic diseases [RCV002552496]	uncertain significance	8	24956472	24956472	Human	2	name
26887996	CV834565	single nucleotide variant	NM_006158.5(NEFL):c.44A>C (p.Lys15Thr)	Charcot-Marie-Tooth disease [RCV001172735]\|Charcot-Marie-Tooth disease type 2E [RCV001042062]	uncertain significance	8	24956472	24956472	Human	2	name
26888904	CV834566	single nucleotide variant	NM_006158.5(NEFL):c.32C>A (p.Ser11Ter)	Charcot-Marie-Tooth disease type 2E [RCV001057496]	pathogenic	8	24956484	24956484	Human	1	name
28907409	CV899370	single nucleotide variant	NM_006158.5(NEFL):c.717G>A (p.Gln239=)	Charcot-Marie-Tooth disease type 1F [RCV001159513]	uncertain significance	8	24955799	24955799	Human	1	name
28909796	CV899371	single nucleotide variant	NM_006158.5(NEFL):c.564C>G (p.Ala188=)	Charcot-Marie-Tooth disease type 1F [RCV001160883]\|Charcot-Marie-Tooth disease type 2E [RCV001423733]	likely benign\|uncertain significance	8	24955952	24955952	Human	2	name
28909799	CV899372	single nucleotide variant	NM_006158.5(NEFL):c.558G>A (p.Glu186=)	Charcot-Marie-Tooth disease type 1F [RCV001160884]	likely benign	8	24955958	24955958	Human	1	name
28909802	CV899374	single nucleotide variant	NM_006158.5(NEFL):c.516C>T (p.Arg172=)	Charcot-Marie-Tooth disease type 1F [RCV001160886]	uncertain significance	8	24956000	24956000	Human	1	name
34889787	CV905229	single nucleotide variant	NM_006158.5(NEFL):c.678G>T (p.Val226=)	Charcot-Marie-Tooth disease [RCV001173046]	likely benign	8	24955838	24955838	Human	1	name
34889790	CV905230	single nucleotide variant	NM_006158.5(NEFL):c.630G>A (p.Glu210=)	Charcot-Marie-Tooth disease [RCV001173055]\|Charcot-Marie-Tooth disease type 2E [RCV003514469]	likely benign	8	24955886	24955886	Human	2	name
34890227	CV905231	single nucleotide variant	NM_006158.5(NEFL):c.612C>T (p.Leu204=)	Charcot-Marie-Tooth disease [RCV001173731]\|Charcot-Marie-Tooth disease type 2E [RCV002068092]	likely benign	8	24955904	24955904	Human	2	name
34890784	CV905233	single nucleotide variant	NM_006158.5(NEFL):c.507G>A (p.Glu169=)	Charcot-Marie-Tooth disease [RCV001174355]	benign	8	24956009	24956009	Human		name
34889792	CV905236	single nucleotide variant	NM_006158.5(NEFL):c.86T>C (p.Val29Ala)	Charcot-Marie-Tooth disease [RCV001173056]\|Charcot-Marie-Tooth disease type 2E [RCV002558747]\|Inborn genetic diseases [RCV002445409]\|NEFL-related disorder [RCV003898167]	likely benign\|uncertain significance	8	24956430	24956430	Human	3	name , trait , alternate_id
38457368	CV919148	single nucleotide variant	NM_006158.5(NEFL):c.73C>A (p.His25Asn)	Charcot-Marie-Tooth disease type 1F [RCV001199118]	uncertain significance	8	24956443	24956443	Human	1	name
38497969	CV946006	single nucleotide variant	NM_006158.5(NEFL):c.67C>T (p.Arg23Trp)	Charcot-Marie-Tooth disease type 2E [RCV001227469]	uncertain significance	8	24956449	24956449	Human	1	name
127230523	CV1075273	single nucleotide variant	NM_006158.5(NEFL):c.1428C>T (p.Ala476=)	Charcot-Marie-Tooth disease type 2E [RCV001394720]	likely benign	8	24953537	24953537	Human	1	name
127242044	CV1075274	single nucleotide variant	NM_006158.5(NEFL):c.1251G>A (p.Gln417=)	Charcot-Marie-Tooth disease type 2E [RCV001393275]	likely benign	8	24953714	24953714	Human	1	name
127269206	CV1096942	single nucleotide variant	NM_006158.5(NEFL):c.1608A>G (p.Glu536=)	Charcot-Marie-Tooth disease type 2E [RCV001430218]	likely benign	8	24952834	24952834	Human	1	name
127273147	CV1096943	single nucleotide variant	NM_006158.5(NEFL):c.1320G>T (p.Pro440=)	Charcot-Marie-Tooth disease type 2E [RCV001442433]	likely benign	8	24953645	24953645	Human	1	name
127260197	CV1096944	single nucleotide variant	NM_006158.5(NEFL):c.1320G>A (p.Pro440=)	Charcot-Marie-Tooth disease type 2E [RCV001438515]	likely benign	8	24953645	24953645	Human	1	name
127293666	CV1139367	single nucleotide variant	NM_006158.5(NEFL):c.1428C>G (p.Ala476=)	Charcot-Marie-Tooth disease type 2E [RCV001496832]	likely benign	8	24953537	24953537	Human	1	name
127287196	CV1152310	single nucleotide variant	NM_006158.5(NEFL):c.182C>T (p.Ser61Phe)	Charcot-Marie-Tooth disease type 2E [RCV003514503]\|Inborn genetic diseases [RCV002414233]\|not provided [RCV001507726]	uncertain significance	8	24956334	24956334	Human	2	name
151353525	CV1326678	single nucleotide variant	NM_006158.5(NEFL):c.197C>T (p.Pro66Leu)	Inborn genetic diseases [RCV003382649]\|not provided [RCV001816491]	uncertain significance	8	24956319	24956319	Human	1	name
151890891	CV1344307	single nucleotide variant	NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)	Charcot-Marie-Tooth disease type 1F [RCV002466713]\|Charcot-Marie-Tooth disease type 2E [RCV001943168]	pathogenic\|uncertain significance	8	24956254	24956254	Human	2	name
151862697	CV1353522	single nucleotide variant	NM_006158.5(NEFL):c.216C>A (p.Asp72Glu)	Charcot-Marie-Tooth disease type 2E [RCV001924206]	uncertain significance	8	24956300	24956300	Human	1	name
151789310	CV1450929	single nucleotide variant	NM_006158.5(NEFL):c.1458C>G (p.Ala486=)	Charcot-Marie-Tooth disease type 2E [RCV001931251]	likely benign	8	24953507	24953507	Human	1	name
152061940	CV1558442	single nucleotide variant	NM_006158.5(NEFL):c.1059A>G (p.Lys353=)	Charcot-Marie-Tooth disease type 2E [RCV002128434]	benign	8	24954291	24954291	Human	1	name
152060920	CV1584973	single nucleotide variant	NM_006158.5(NEFL):c.1380T>C (p.Ala460=)	Charcot-Marie-Tooth disease type 2E [RCV002073667]	likely benign	8	24953585	24953585	Human	1	name
9586771	CV165493	single nucleotide variant	NM_006158.5(NEFL):c.289C>T (p.Leu97Phe)	Charcot-Marie-Tooth disease type 2E [RCV000205727]\|not provided [RCV000143809]	benign\|uncertain significance	8	24956227	24956227	Human	1	name
152983144	CV1677980	duplication	NM_006158.5(NEFL):c.506dup (p.Thr170fs)	Charcot-Marie-Tooth disease type 2E [RCV002250135]	pathogenic	8	24956009	24956010	Human	1	name
153305271	CV1687653	single nucleotide variant	NM_006158.5(NEFL):c.1038T>C (p.Ala346=)	Charcot-Marie-Tooth disease type 2E [RCV003629207]\|not provided [RCV002263474]	likely benign	8	24955478	24955478	Human	1	name
155642526	CV1707456	single nucleotide variant	NM_006158.5(NEFL):c.281T>A (p.Leu94His)	Charcot-Marie-Tooth disease type 2E [RCV003629209]\|Charcot-Marie-Tooth disease, axonal, type 2EE [RCV002288386]	uncertain significance	8	24956235	24956235	Human	2	name
155672075	CV1773977	single nucleotide variant	NM_006158.5(NEFL):c.134C>T (p.Ala45Val)	Charcot-Marie-Tooth disease type 2E [RCV002297547]	uncertain significance	8	24956382	24956382	Human	1	name
155692964	CV1779493	single nucleotide variant	NM_006158.5(NEFL):c.229G>C (p.Ala77Pro)	Charcot-Marie-Tooth disease type 2E [RCV002295017]	uncertain significance	8	24956287	24956287	Human	1	name
155684577	CV1827058	single nucleotide variant	NM_006158.5(NEFL):c.149C>T (p.Ser50Leu)	Inborn genetic diseases [RCV002389869]	uncertain significance	8	24956367	24956367	Human	1	name
156403576	CV1871793	single nucleotide variant	NM_006158.5(NEFL):c.104C>T (p.Thr35Ile)	Charcot-Marie-Tooth disease type 2E [RCV003052631]	uncertain significance	8	24956412	24956412	Human	1	name
156410389	CV1885855	single nucleotide variant	NM_006158.5(NEFL):c.263C>A (p.Thr88Lys)	Charcot-Marie-Tooth disease type 2E [RCV003072051]	uncertain significance	8	24956253	24956253	Human	1	name
156416686	CV1901730	single nucleotide variant	NM_006158.5(NEFL):c.193A>G (p.Met65Val)	Charcot-Marie-Tooth disease type 2E [RCV002610309]\|Inborn genetic diseases [RCV004068796]	uncertain significance	8	24956323	24956323	Human	2	name
156345223	CV1995135	single nucleotide variant	NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)	Charcot-Marie-Tooth disease type 2E [RCV002650535]	likely benign\|uncertain significance	8	24953639	24953639	Human	1	name
156037867	CV2030105	deletion	NM_006158.5(NEFL):c.832del (p.Glu278fs)	Charcot-Marie-Tooth disease type 2E [RCV002736069]	pathogenic	8	24955684	24955684	Human	1	name
156205673	CV2110261	single nucleotide variant	NM_006158.5(NEFL):c.1386G>A (p.Lys462=)	Charcot-Marie-Tooth disease type 2E [RCV002957544]	likely benign\|uncertain significance	8	24953579	24953579	Human	1	name
10405615	CV212633	single nucleotide variant	NM_006158.5(NEFL):c.1407G>A (p.Glu469=)	Charcot-Marie-Tooth disease [RCV001173736]\|Charcot-Marie-Tooth disease type 1F [RCV000407613]\|Charcot-Marie-Tooth disease type 2E [RCV000196314]\|Inborn genetic diseases [RCV002390524]\|not provided [RCV004712164]\|not specified [RCV000437037]	benign\|likely benign	8	24953558	24953558	Human	4	name
156316546	CV2137749	single nucleotide variant	NM_006158.5(NEFL):c.126C>G (p.Ser42Arg)	Charcot-Marie-Tooth disease type 2E [RCV002962937]	uncertain significance	8	24956390	24956390	Human	1	name
156081161	CV2158511	single nucleotide variant	NM_006158.5(NEFL):c.200G>A (p.Ser67Asn)	Charcot-Marie-Tooth disease type 2E [RCV003037888]	uncertain significance	8	24956316	24956316	Human	1	name
155952188	CV2161341	single nucleotide variant	NM_006158.5(NEFL):c.1125C>T (p.Leu375=)	Charcot-Marie-Tooth disease type 2E [RCV003032496]	likely benign\|uncertain significance	8	24954225	24954225	Human	1	name
156360216	CV2184113	single nucleotide variant	NM_006158.5(NEFL):c.1128C>A (p.Leu376=)	Charcot-Marie-Tooth disease type 2E [RCV003048972]	likely benign\|uncertain significance	8	24954222	24954222	Human	1	name
156377544	CV2189181	single nucleotide variant	NM_006158.5(NEFL):c.1248C>T (p.Ser416=)	Charcot-Marie-Tooth disease type 2E [RCV003050234]	likely benign\|uncertain significance	8	24953717	24953717	Human	1	name
156073588	CV2251571	single nucleotide variant	NM_006158.5(NEFL):c.139G>T (p.Val47Leu)	Charcot-Marie-Tooth disease type 2E [RCV005099656]\|Inborn genetic diseases [RCV002783311]\|not provided [RCV003130875]	uncertain significance	8	24956377	24956377	Human	2	name
156164647	CV2323691	single nucleotide variant	NM_006158.5(NEFL):c.163C>T (p.Arg55Cys)	Charcot-Marie-Tooth disease type 2E [RCV005099853]\|Inborn genetic diseases [RCV002929492]	uncertain significance	8	24956353	24956353	Human	2	name
243050055	CV2403779	single nucleotide variant	NM_006158.5(NEFL):c.259C>T (p.Arg87Cys)	Charcot-Marie-Tooth disease type 2E [RCV003128298]	uncertain significance	8	24956257	24956257	Human	1	name
401797907	CV2739135	single nucleotide variant	NM_006158.5(NEFL):c.137C>G (p.Pro46Arg)	not provided [RCV003318782]	uncertain significance	8	24956379	24956379	Human		name
401829869	CV2744043	single nucleotide variant	NM_006158.5(NEFL):c.292A>C (p.Asn98His)	Charcot-Marie-Tooth disease, dominant intermediate G [RCV005254768]\|not provided [RCV003327199]	likely pathogenic	8	24956224	24956224	Human	1	name
401925755	CV2820973	single nucleotide variant	NM_006158.5(NEFL):c.194T>C (p.Met65Thr)	Charcot-Marie-Tooth disease type 2E [RCV003629277]\|not provided [RCV003436814]	uncertain significance	8	24956322	24956322	Human	1	name
401946823	CV2831826	single nucleotide variant	NM_006158.5(NEFL):c.292A>G (p.Asn98Asp)	Charcot-Marie-Tooth disease type 2E [RCV003445469]	pathogenic\|conflicting interpretations of pathogenicity	8	24956224	24956224	Human	1	name
401964036	CV2844915	deletion	NM_006158.5(NEFL):c.760del (p.Leu254fs)	Auditory neuropathy [RCV003484487]	pathogenic	8	24955756	24955756	Human	1	name
405028712	CV2900393	single nucleotide variant	NM_006158.5(NEFL):c.1236C>T (p.Tyr412=)	Charcot-Marie-Tooth disease type 2E [RCV003516585]	likely benign	8	24953729	24953729	Human	1	name
8564009	CV29072	single nucleotide variant	NM_006158.5(NEFL):c.281T>C (p.Leu94Pro)	Charcot-Marie-Tooth disease type 2E [RCV000015078]\|not provided [RCV000057135]	pathogenic\|not provided	8	24956235	24956235	Human	1	name
405019750	CV2925156	single nucleotide variant	NM_006158.5(NEFL):c.1026C>A (p.Ala342=)	Charcot-Marie-Tooth disease type 2E [RCV003515780]	likely benign	8	24955490	24955490	Human	1	name
402510202	CV2943853	single nucleotide variant	NM_006158.5(NEFL):c.236T>A (p.Ile79Asn)	Charcot-Marie-Tooth disease type 2E [RCV003629338]	uncertain significance	8	24956280	24956280	Human	1	name
402511916	CV2953340	single nucleotide variant	NM_006158.5(NEFL):c.1050G>A (p.Thr350=)	Charcot-Marie-Tooth disease type 2E [RCV003629485]	likely benign	8	24954300	24954300	Human	1	name
402513805	CV3057321	single nucleotide variant	NM_006158.5(NEFL):c.287A>T (p.Asp96Val)	Charcot-Marie-Tooth disease type 2E [RCV003629666]\|Inborn genetic diseases [RCV005387245]	uncertain significance	8	24956229	24956229	Human	2	name
402518765	CV3075060	single nucleotide variant	NM_006158.5(NEFL):c.109C>T (p.Arg37Cys)	Charcot-Marie-Tooth disease type 2E [RCV003630060]	uncertain significance	8	24956407	24956407	Human	1	name
405018052	CV3135311	single nucleotide variant	NM_006158.5(NEFL):c.1080C>A (p.Thr360=)	Charcot-Marie-Tooth disease type 2E [RCV003829582]	likely benign	8	24954270	24954270	Human	1	name
11608547	CV313846	single nucleotide variant	NM_006158.5(NEFL):c.1329C>T (p.Tyr443=)	Charcot-Marie-Tooth disease type 1F [RCV000356601]\|Charcot-Marie-Tooth disease type 2E [RCV000640667]\|Inborn genetic diseases [RCV002379247]\|not provided [RCV005230276]	benign\|likely benign	8	24953636	24953636	Human	3	name
405225045	CV3142289	single nucleotide variant	NM_006158.5(NEFL):c.194T>G (p.Met65Arg)	Charcot-Marie-Tooth disease type 2E [RCV003847828]	uncertain significance	8	24956322	24956322	Human	1	name
405222178	CV3158229	single nucleotide variant	NM_006158.5(NEFL):c.1365G>A (p.Glu455=)	Charcot-Marie-Tooth disease type 2E [RCV003863725]	likely benign	8	24953600	24953600	Human	1	name
407526148	CV3454815	single nucleotide variant	NM_006158.5(NEFL):c.116C>G (p.Ala39Gly)	Inborn genetic diseases [RCV004654708]	uncertain significance	8	24956400	24956400	Human	1	name
12742459	CV359731	single nucleotide variant	NM_006158.5(NEFL):c.294T>G (p.Asn98Lys)	Charcot-Marie-Tooth disease type 2E [RCV001071579]\|not provided [RCV000413716]	likely pathogenic\|uncertain significance	8	24956222	24956222	Human	1	name
12842137	CV369456	single nucleotide variant	NM_006158.5(NEFL):c.1011G>A (p.Glu337=)	Charcot-Marie-Tooth disease type 2E [RCV000868473]\|not specified [RCV000433878]	likely benign	8	24955505	24955505	Human	1	name
12843504	CV369891	single nucleotide variant	NM_006158.5(NEFL):c.1461G>A (p.Glu487=)	Charcot-Marie-Tooth disease type 2E [RCV000866122]\|not specified [RCV000436338]	likely benign	8	24953504	24953504	Human	1	name
12836572	CV371764	single nucleotide variant	NM_006158.5(NEFL):c.1275C>T (p.Gly425=)	Charcot-Marie-Tooth disease type 2E [RCV000640670]\|not provided [RCV001534593]\|not specified [RCV000423639]	benign\|likely benign	8	24953690	24953690	Human	1	name
597651157	CV3730556	single nucleotide variant	NM_006158.5(NEFL):c.199A>C (p.Ser67Arg)	not provided [RCV005000846]	uncertain significance	8	24956317	24956317	Human		name
597872360	CV3768514	single nucleotide variant	NM_006158.5(NEFL):c.171C>G (p.Tyr57Ter)	Charcot-Marie-Tooth disease type 2E [RCV005122893]	pathogenic	8	24956345	24956345	Human	1	name
597941535	CV3769126	single nucleotide variant	NM_006158.5(NEFL):c.1272C>T (p.Tyr424=)	Charcot-Marie-Tooth disease type 2E [RCV005118621]	likely benign	8	24953693	24953693	Human	1	name
597899076	CV3782861	single nucleotide variant	NM_006158.5(NEFL):c.1200C>G (p.Leu400=)	Charcot-Marie-Tooth disease type 2E [RCV005126881]	likely benign	8	24953765	24953765	Human	1	name
597963607	CV3792006	single nucleotide variant	NM_006158.5(NEFL):c.285G>C (p.Gln95His)	Charcot-Marie-Tooth disease type 2E [RCV005139563]	uncertain significance	8	24956231	24956231	Human	1	name
597932043	CV3863327	single nucleotide variant	NM_006158.5(NEFL):c.223C>T (p.Gln75Ter)	Charcot-Marie-Tooth disease type 2E [RCV005206853]	pathogenic	8	24956293	24956293	Human	1	name
13435726	CV433755	single nucleotide variant	NM_006158.5(NEFL):c.1392G>A (p.Glu464=)	not specified [RCV000505893]	likely benign	8	24953573	24953573	Human		name
13445652	CV438383	single nucleotide variant	NM_006158.5(NEFL):c.146C>T (p.Ser49Phe)	Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289699]\|not provided [RCV000512683]	uncertain significance	8	24956370	24956370	Human	1	name
13476865	CV458304	single nucleotide variant	NM_006158.5(NEFL):c.1261C>A (p.Arg421=)	Charcot-Marie-Tooth disease type 2E [RCV000526896]	likely benign\|uncertain significance	8	24953704	24953704	Human	1	name
13478274	CV458307	single nucleotide variant	NM_006158.5(NEFL):c.1026C>G (p.Ala342=)	Charcot-Marie-Tooth disease type 2E [RCV000549995]\|not provided [RCV001696989]	benign\|likely benign	8	24955490	24955490	Human	1	name
13501952	CV458315	single nucleotide variant	NM_006158.5(NEFL):c.243C>A (p.Asn81Lys)	Charcot-Marie-Tooth disease type 2E [RCV000541480]	uncertain significance	8	24956273	24956273	Human	1	name
8571055	CV49660	single nucleotide variant	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	Charcot-Marie-Tooth disease [RCV000857201]\|Charcot-Marie-Tooth disease type 1F [RCV000034136]\|Charcot-Marie-Tooth disease type 1F [RCV001027680]\|Charcot-Marie-Tooth disease type 2E [RCV000554079]\|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585792]\|Sensorineural hearing loss disorder ... (more) [RCV001843465]\|not provided [RCV000057136]	pathogenic\|likely pathogenic\|uncertain significance\|not provided	8	24956223	24956223	Human	6	name
13536041	CV501988	single nucleotide variant	NM_006158.5(NEFL):c.1482G>A (p.Glu494=)	Charcot-Marie-Tooth disease type 2E [RCV003514388]\|not specified [RCV000608427]	likely benign	8	24953483	24953483	Human	1	name
13537084	CV501990	single nucleotide variant	NM_006158.5(NEFL):c.1284G>A (p.Gln428=)	Charcot-Marie-Tooth disease type 2E [RCV002531561]\|Inborn genetic diseases [RCV002384349]\|not specified [RCV000609903]	likely benign\|uncertain significance	8	24953681	24953681	Human	2	name
13592781	CV501992	single nucleotide variant	NM_006158.5(NEFL):c.1080C>T (p.Thr360=)	Charcot-Marie-Tooth disease type 2E [RCV000868942]\|not specified [RCV000600143]	likely benign	8	24954270	24954270	Human	1	name
13609465	CV523409	single nucleotide variant	NM_006158.5(NEFL):c.1185C>T (p.Gly395=)	Charcot-Marie-Tooth disease type 2E [RCV000640664]\|not provided [RCV004597842]	likely benign\|uncertain significance	8	24953780	24953780	Human	1	name
13609469	CV523725	single nucleotide variant	NM_006158.5(NEFL):c.270G>C (p.Glu90Asp)	Charcot-Marie-Tooth disease type 2E [RCV000640666]\|Inborn genetic diseases [RCV002440281]	uncertain significance	8	24956246	24956246	Human	2	name
13609467	CV523978	single nucleotide variant	NM_006158.5(NEFL):c.217C>G (p.Leu73Val)	Charcot-Marie-Tooth disease type 2E [RCV000640665]\|not provided [RCV001756066]	uncertain significance	8	24956299	24956299	Human	1	name
13609472	CV523986	single nucleotide variant	NM_006158.5(NEFL):c.1287C>T (p.Thr429=)	Charcot-Marie-Tooth disease type 2E [RCV001476411]\|Inborn genetic diseases [RCV002386063]	likely benign\|uncertain significance	8	24953678	24953678	Human	2	name
13822340	CV564976	single nucleotide variant	NM_006158.5(NEFL):c.289C>A (p.Leu97Ile)	Charcot-Marie-Tooth disease type 2E [RCV000697171]	uncertain significance	8	24956227	24956227	Human	1	name
13810545	CV577058	single nucleotide variant	NM_006158.5(NEFL):c.202C>G (p.Leu68Val)	Charcot-Marie-Tooth disease type 2E [RCV005056460]\|not provided [RCV000712411]	uncertain significance	8	24956314	24956314	Human	1	name
14397297	CV612813	single nucleotide variant	NM_006158.5(NEFL):c.1131C>T (p.Asn377=)	Charcot-Marie-Tooth disease type 2E [RCV001317297]\|not provided [RCV000762502]	likely benign\|uncertain significance	8	24954219	24954219	Human	1	name
14718049	CV637030	single nucleotide variant	NM_006158.5(NEFL):c.1044G>A (p.Gln348=)	Charcot-Marie-Tooth disease type 2E [RCV000812095]	uncertain significance	8	24955472	24955472	Human	1	name
14742669	CV655859	single nucleotide variant	NM_006158.5(NEFL):c.1395A>G (p.Glu465=)	Charcot-Marie-Tooth disease type 2E [RCV001444835]\|not provided [RCV000841552]	likely benign	8	24953570	24953570	Human	1	name
15108614	CV683015	single nucleotide variant	NM_006158.5(NEFL):c.280C>T (p.Leu94Phe)	Charcot-Marie-Tooth disease [RCV000857202]	uncertain significance	8	24956236	24956236	Human	1	name
15126426	CV692478	single nucleotide variant	NM_006158.5(NEFL):c.1185C>G (p.Gly395=)	Charcot-Marie-Tooth disease type 2E [RCV001489614]	likely benign	8	24953780	24953780	Human	1	name
15132612	CV751081	single nucleotide variant	NM_006158.5(NEFL):c.1578G>A (p.Glu526=)	Charcot-Marie-Tooth disease type 2E [RCV001418414]	likely benign	8	24952864	24952864	Human	1	name
8622549	CV77570	single nucleotide variant	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	Charcot-Marie-Tooth disease [RCV001173047]\|Charcot-Marie-Tooth disease type 1F [RCV000261709]\|Charcot-Marie-Tooth disease type 2E [RCV001080353]\|not provided [RCV000057115]\|not specified [RCV000420597]	benign\|likely benign\|uncertain significance\|not provided	8	24953753	24953753	Human	3	name
8622553	CV77574	single nucleotide variant	NM_006158.5(NEFL):c.1458C>T (p.Ala486=)	Charcot-Marie-Tooth disease type 2E [RCV001080656]\|not provided [RCV000057119]\|not specified [RCV000789604]	benign\|likely benign\|uncertain significance\|not provided	8	24953507	24953507	Human	1	name
8622555	CV77576	single nucleotide variant	NM_006158.5(NEFL):c.1560C>A (p.Thr520=)	Charcot-Marie-Tooth disease type 2E [RCV001087291]\|not provided [RCV000057121]	benign\|likely benign\|not provided	8	24952882	24952882	Human	1	name
8622557	CV77579	single nucleotide variant	NM_006158.5(NEFL):c.1590T>G (p.Val530=)	Charcot-Marie-Tooth disease type 2E [RCV002054901]\|not provided [RCV000057124]\|not specified [RCV000441793]	likely benign\|not provided	8	24952852	24952852	Human	1	name
8622560	CV77582	single nucleotide variant	NM_006158.5(NEFL):c.227T>A (p.Val76Glu)	not provided [RCV000057127]	not provided	8	24956289	24956289	Human		name
8622561	CV77583	single nucleotide variant	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	Charcot-Marie-Tooth disease [RCV001173052]\|Charcot-Marie-Tooth disease type 1F [RCV000267478]\|Charcot-Marie-Tooth disease type 2E [RCV001087779]\|NEFL-related disorder [RCV003974942]\|not provided [RCV000057128]\|not specified [RCV000790247]	benign\|likely benign\|uncertain significance\|not provided	8	24956289	24956289	Human	3	name , trait , alternate_id
8622565	CV77587	single nucleotide variant	NM_006158.5(NEFL):c.268G>A (p.Glu90Lys)	Charcot-Marie-Tooth disease type 2E [RCV001854171]\|not provided [RCV000057133]	pathogenic\|not provided	8	24956248	24956248	Human	1	name
21069713	CV796154	single nucleotide variant	NM_006158.5(NEFL):c.1104C>T (p.Tyr368=)	not provided [RCV000999002]	uncertain significance	8	24954246	24954246	Human		name
26889423	CV834555	single nucleotide variant	NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)	Charcot-Marie-Tooth disease type 2E [RCV001064956]	likely benign\|uncertain significance	8	24954183	24954183	Human	1	name
26889889	CV834561	single nucleotide variant	NM_006158.5(NEFL):c.290T>G (p.Leu97Arg)	Charcot-Marie-Tooth disease type 2E [RCV001071292]	uncertain significance	8	24956226	24956226	Human	1	name
26888090	CV834562	single nucleotide variant	NM_006158.5(NEFL):c.269A>G (p.Glu90Gly)	Charcot-Marie-Tooth disease type 2E [RCV001043675]	uncertain significance	8	24956247	24956247	Human	1	name
26888152	CV834563	single nucleotide variant	NM_006158.5(NEFL):c.215A>C (p.Asp72Ala)	Charcot-Marie-Tooth disease type 2E [RCV001044900]	uncertain significance	8	24956301	24956301	Human	1	name
34889785	CV905217	single nucleotide variant	NM_006158.5(NEFL):c.1611A>G (p.Gln537=)	Charcot-Marie-Tooth disease [RCV001173045]\|Charcot-Marie-Tooth disease type 2E [RCV002067844]	likely benign	8	24952831	24952831	Human	2	name
34890231	CV905223	single nucleotide variant	NM_006158.5(NEFL):c.1086G>A (p.Lys362=)	Charcot-Marie-Tooth disease [RCV001173733]\|Charcot-Marie-Tooth disease type 2E [RCV001400518]	likely benign	8	24954264	24954264	Human	2	name
34889632	CV905235	single nucleotide variant	NM_006158.5(NEFL):c.235A>G (p.Ile79Val)	Charcot-Marie-Tooth disease [RCV001172734]\|Charcot-Marie-Tooth disease type 2E [RCV003514468]	uncertain significance	8	24956281	24956281	Human	2	name
38488581	CV946004	single nucleotide variant	NM_006158.5(NEFL):c.290T>C (p.Leu97Pro)	Charcot-Marie-Tooth disease type 2E [RCV001238054]	uncertain significance	8	24956226	24956226	Human	1	name
38477244	CV946005	single nucleotide variant	NM_006158.5(NEFL):c.214G>T (p.Asp72Tyr)	Charcot-Marie-Tooth disease type 2E [RCV001233407]	uncertain significance	8	24956302	24956302	Human	1	name
126734264	CV992726	single nucleotide variant	NM_006158.5(NEFL):c.220A>T (p.Ser74Cys)	Charcot-Marie-Tooth disease type 2E [RCV001299391]	uncertain significance	8	24956296	24956296	Human	1	name
126735717	CV1007951	single nucleotide variant	NM_006158.5(NEFL):c.487G>A (p.Glu163Lys)	Charcot-Marie-Tooth disease type 2E [RCV001319668]	uncertain significance	8	24956029	24956029	Human	1	name
126774600	CV1028468	single nucleotide variant	NM_006158.5(NEFL):c.767C>T (p.Ala256Val)	Charcot-Marie-Tooth disease type 2E [RCV001347410]	uncertain significance	8	24955749	24955749	Human	1	name
126752275	CV1028469	single nucleotide variant	NM_006158.5(NEFL):c.569G>T (p.Gly190Val)	Charcot-Marie-Tooth disease type 2E [RCV001352587]	uncertain significance	8	24955947	24955947	Human	1	name
126923629	CV1045442	single nucleotide variant	NM_006158.5(NEFL):c.868A>G (p.Ser290Gly)	Charcot-Marie-Tooth disease type 2E [RCV001366066]\|Inborn genetic diseases [RCV002377535]	uncertain significance	8	24955648	24955648	Human	2	name
126908155	CV1045443	single nucleotide variant	NM_006158.5(NEFL):c.856G>T (p.Val286Leu)	Charcot-Marie-Tooth disease type 2E [RCV001367648]	uncertain significance	8	24955660	24955660	Human	1	name
150429421	CV1189217	single nucleotide variant	NM_006158.5(NEFL):c.638T>C (p.Ile213Thr)	Charcot-Marie-Tooth disease [RCV001563582]	uncertain significance	8	24955878	24955878	Human	1	name
150414590	CV1190762	single nucleotide variant	NM_006158.5(NEFL):c.648G>C (p.Leu216Phe)	Charcot-Marie-Tooth disease type 2E [RCV002570763]\|not provided [RCV001567604]	uncertain significance	8	24955868	24955868	Human	1	name
150451105	CV1205350	single nucleotide variant	NM_006158.5(NEFL):c.417C>G (p.Tyr139Ter)	Charcot-Marie-Tooth disease type 2E [RCV001866184]\|not provided [RCV001585250]	pathogenic	8	24956099	24956099	Human	1	name
150431863	CV1246093	single nucleotide variant	NM_006158.5(NEFL):c.460A>C (p.Thr154Pro)	not provided [RCV001663505]	uncertain significance	8	24956056	24956056	Human		name
150431865	CV1246094	single nucleotide variant	NM_006158.5(NEFL):c.628G>C (p.Glu210Gln)	Charcot-Marie-Tooth disease type 2E [RCV005057542]\|not provided [RCV003132527]\|not specified [RCV001663506]	likely benign\|uncertain significance	8	24955888	24955888	Human	1	name
150550023	CV1300011	single nucleotide variant	NM_006158.5(NEFL):c.616C>G (p.Arg206Gly)	Charcot-Marie-Tooth disease type 2E [RCV002544069]\|not provided [RCV001765481]	uncertain significance	8	24955900	24955900	Human	1	name
150556682	CV1305606	single nucleotide variant	NM_006158.5(NEFL):c.598G>T (p.Asp200Tyr)	not provided [RCV001774595]	uncertain significance	8	24955918	24955918	Human		name
151813207	CV1355661	single nucleotide variant	NM_006158.5(NEFL):c.334G>A (p.Glu112Lys)	Charcot-Marie-Tooth disease type 2E [RCV002012648]	uncertain significance	8	24956182	24956182	Human	1	name
151811797	CV1371463	single nucleotide variant	NM_006158.5(NEFL):c.870C>G (p.Ser290Arg)	Charcot-Marie-Tooth disease type 2E [RCV001933277]	uncertain significance	8	24955646	24955646	Human	1	name
151766932	CV1393915	single nucleotide variant	NM_006158.5(NEFL):c.820C>G (p.Gln274Glu)	Charcot-Marie-Tooth disease type 2E [RCV002008473]	uncertain significance	8	24955696	24955696	Human	1	name
151875804	CV1397291	single nucleotide variant	NM_006158.5(NEFL):c.973A>G (p.Met325Val)	Charcot-Marie-Tooth disease type 2E [RCV001940378]	uncertain significance	8	24955543	24955543	Human	1	name
151711921	CV1400090	single nucleotide variant	NM_006158.5(NEFL):c.484G>A (p.Gly162Ser)	Charcot-Marie-Tooth disease type 2E [RCV002002154]\|Inborn genetic diseases [RCV002334961]	uncertain significance	8	24956032	24956032	Human	2	name
151709655	CV1409342	single nucleotide variant	NM_006158.5(NEFL):c.682G>C (p.Glu228Gln)	Charcot-Marie-Tooth disease type 2E [RCV001907720]\|Inborn genetic diseases [RCV002550329]	uncertain significance	8	24955834	24955834	Human	2	name
151809375	CV1418035	single nucleotide variant	NM_006158.5(NEFL):c.377G>A (p.Arg126His)	Charcot-Marie-Tooth disease type 2E [RCV001867849]\|Inborn genetic diseases [RCV002343927]	uncertain significance	8	24956139	24956139	Human	2	name
151725733	CV1437957	single nucleotide variant	NM_006158.5(NEFL):c.874G>T (p.Ala292Ser)	Charcot-Marie-Tooth disease type 2E [RCV001891690]\|Inborn genetic diseases [RCV002554254]	uncertain significance	8	24955642	24955642	Human	2	name
151764310	CV1447640	single nucleotide variant	NM_006158.5(NEFL):c.603G>T (p.Glu201Asp)	Charcot-Marie-Tooth disease type 2E [RCV001895698]	uncertain significance	8	24955913	24955913	Human	1	name
151781662	CV1468927	single nucleotide variant	NM_006158.5(NEFL):c.690G>C (p.Glu230Asp)	Charcot-Marie-Tooth disease type 2E [RCV002026320]	uncertain significance	8	24955826	24955826	Human	1	name
151740374	CV1474924	single nucleotide variant	NM_006158.5(NEFL):c.797A>T (p.Glu266Val)	Charcot-Marie-Tooth disease type 2E [RCV001968085]	uncertain significance	8	24955719	24955719	Human	1	name
151874512	CV1475807	single nucleotide variant	NM_006158.5(NEFL):c.925C>T (p.Arg309Cys)	Charcot-Marie-Tooth disease type 2E [RCV002019370]	uncertain significance	8	24955591	24955591	Human	1	name
151757623	CV1514271	single nucleotide variant	NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter)	Charcot-Marie-Tooth disease type 2E [RCV001948781]	pathogenic	8	24955721	24955721	Human	1	name
9586772	CV165494	single nucleotide variant	NM_006158.5(NEFL):c.794A>G (p.Tyr265Cys)	Charcot-Marie-Tooth disease [RCV000857200]\|not provided [RCV000143810]	likely pathogenic\|uncertain significance	8	24955722	24955722	Human	1	name
9586773	CV165495	single nucleotide variant	NM_006158.5(NEFL):c.803T>G (p.Leu268Arg)	not provided [RCV000143811]	likely pathogenic	8	24955713	24955713	Human		name
155643011	CV1707645	single nucleotide variant	NM_006158.5(NEFL):c.796G>C (p.Glu266Gln)	Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289106]	uncertain significance	8	24955720	24955720	Human	1	name
155687696	CV1777758	single nucleotide variant	NM_006158.5(NEFL):c.316G>A (p.Glu106Lys)	Charcot-Marie-Tooth disease type 2E [RCV002299122]	uncertain significance	8	24956200	24956200	Human	1	name
155715404	CV1784928	single nucleotide variant	NM_006158.5(NEFL):c.308G>T (p.Ser103Ile)	Inborn genetic diseases [RCV002325788]	uncertain significance	8	24956208	24956208	Human	1	name
155717457	CV1792275	single nucleotide variant	NM_006158.5(NEFL):c.330G>C (p.Glu110Asp)	Inborn genetic diseases [RCV002326299]	uncertain significance	8	24956186	24956186	Human	1	name
155688986	CV1803926	single nucleotide variant	NM_006158.5(NEFL):c.596C>T (p.Ala199Val)	Charcot-Marie-Tooth disease type 2E [RCV003098081]\|Inborn genetic diseases [RCV002356080]	uncertain significance	8	24955920	24955920	Human	2	name
155698425	CV1812021	single nucleotide variant	NM_006158.5(NEFL):c.662C>T (p.Ser221Phe)	Charcot-Marie-Tooth disease type 2E [RCV003098315]\|Inborn genetic diseases [RCV002375906]	uncertain significance	8	24955854	24955854	Human	2	name
155730124	CV1814113	single nucleotide variant	NM_006158.5(NEFL):c.834A>T (p.Glu278Asp)	Inborn genetic diseases [RCV002434691]	uncertain significance	8	24955682	24955682	Human	1	name
155688321	CV1817597	single nucleotide variant	NM_006158.5(NEFL):c.872C>T (p.Ala291Val)	Inborn genetic diseases [RCV002373497]	uncertain significance	8	24955644	24955644	Human	1	name
155717434	CV1822967	single nucleotide variant	NM_006158.5(NEFL):c.734T>C (p.Val245Ala)	Inborn genetic diseases [RCV002380246]	uncertain significance	8	24955782	24955782	Human	1	name
155730485	CV1825792	single nucleotide variant	NM_006158.5(NEFL):c.997C>G (p.Leu333Val)	Charcot-Marie-Tooth disease type 2E [RCV003629221]\|Inborn genetic diseases [RCV002383009]	uncertain significance	8	24955519	24955519	Human	2	name
155666774	CV1856757	single nucleotide variant	NM_006158.5(NEFL):c.299G>C (p.Arg100Pro)	Charcot-Marie-Tooth disease type 2E [RCV003514590]\|Inborn genetic diseases [RCV002435589]	uncertain significance	8	24956217	24956217	Human	2	name
155800916	CV1863911	single nucleotide variant	NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)	Charcot-Marie-Tooth disease type 2E [RCV002571514]\|Inborn genetic diseases [RCV004064261]\|not provided [RCV002474334]	uncertain significance	8	24955912	24955912	Human	2	name
155800917	CV1863912	single nucleotide variant	NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)	Charcot-Marie-Tooth disease type 2E [RCV003775536]\|not provided [RCV002474335]	uncertain significance	8	24956118	24956118	Human	1	name
155800918	CV1863913	single nucleotide variant	NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)	Charcot-Marie-Tooth disease type 2E [RCV003775537]\|not provided [RCV002474336]	uncertain significance	8	24956009	24956009	Human	1	name
156049276	CV1867630	single nucleotide variant	NM_006158.5(NEFL):c.634C>T (p.Arg212Cys)	not provided [RCV002510102]	uncertain significance	8	24955882	24955882	Human		name
156128479	CV1889233	single nucleotide variant	NM_006158.5(NEFL):c.494A>C (p.Glu165Ala)	Charcot-Marie-Tooth disease type 2E [RCV003081737]\|Inborn genetic diseases [RCV003069231]	uncertain significance	8	24956022	24956022	Human	2	name
156414080	CV1915676	single nucleotide variant	NM_006158.5(NEFL):c.491G>A (p.Arg164His)	Charcot-Marie-Tooth disease type 2E [RCV002588397]	uncertain significance	8	24956025	24956025	Human	1	name
156410419	CV1932339	single nucleotide variant	NM_006158.5(NEFL):c.958G>A (p.Glu320Lys)	Charcot-Marie-Tooth disease type 2E [RCV002607859]	uncertain significance	8	24955558	24955558	Human	1	name
156149982	CV1943789	single nucleotide variant	NM_006158.5(NEFL):c.581A>G (p.Glu194Gly)	Charcot-Marie-Tooth disease type 2E [RCV003108169]\|Inborn genetic diseases [RCV002697582]	uncertain significance	8	24955935	24955935	Human	2	name
156323647	CV1976383	single nucleotide variant	NM_006158.5(NEFL):c.985C>G (p.Leu329Val)	Charcot-Marie-Tooth disease type 2E [RCV002600392]	uncertain significance	8	24955531	24955531	Human	1	name
156325532	CV1985278	single nucleotide variant	NM_006158.5(NEFL):c.709C>G (p.Gln237Glu)	Charcot-Marie-Tooth disease type 2E [RCV002649531]	uncertain significance	8	24955807	24955807	Human	1	name
156111171	CV1988770	single nucleotide variant	NM_006158.5(NEFL):c.940G>A (p.Ala314Thr)	Charcot-Marie-Tooth disease type 2E [RCV002622583]	uncertain significance	8	24955576	24955576	Human	1	name
156371091	CV2007754	single nucleotide variant	NM_006158.5(NEFL):c.649A>C (p.Met217Leu)	Charcot-Marie-Tooth disease type 2E [RCV002676905]	uncertain significance	8	24955867	24955867	Human	1	name
156373628	CV2052668	single nucleotide variant	NM_006158.5(NEFL):c.767C>G (p.Ala256Gly)	Charcot-Marie-Tooth disease type 2E [RCV002814501]	uncertain significance	8	24955749	24955749	Human	1	name
155932226	CV2129224	single nucleotide variant	NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn)	Charcot-Marie-Tooth disease type 2E [RCV002970693]	likely pathogenic	8	24955723	24955723	Human	1	name
156130910	CV2169133	single nucleotide variant	NM_006158.5(NEFL):c.867G>C (p.Glu289Asp)	Charcot-Marie-Tooth disease type 2E [RCV003022173]	uncertain significance	8	24955649	24955649	Human	1	name
156213317	CV2176418	single nucleotide variant	NM_006158.5(NEFL):c.935T>C (p.Leu312Pro)	Charcot-Marie-Tooth disease type 2E [RCV003024892]	uncertain significance	8	24955581	24955581	Human	1	name
156177125	CV2181531	single nucleotide variant	NM_006158.5(NEFL):c.551G>A (p.Ser184Asn)	Charcot-Marie-Tooth disease type 2E [RCV003057409]	uncertain significance	8	24955965	24955965	Human	1	name
10768634	CV221758	single nucleotide variant	NM_006158.5(NEFL):c.968G>C (p.Arg323Pro)	Charcot-Marie-Tooth disease type 2E [RCV000206730]\|Inborn genetic diseases [RCV002381708]\|not specified [RCV000518282]	pathogenic\|uncertain significance	8	24955548	24955548	Human	2	name
11094207	CV231697	single nucleotide variant	NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)	Charcot-Marie-Tooth disease type 1F [RCV000764773]\|Charcot-Marie-Tooth disease type 2E [RCV000535984]\|not provided [RCV000762503]	likely pathogenic\|uncertain significance	8	24955530	24955530	Human	2	name
11092657	CV231700	single nucleotide variant	NM_006158.5(NEFL):c.487G>C (p.Glu163Gln)	not provided [RCV000218821]	uncertain significance	8	24956029	24956029	Human		name
243051592	CV2403951	single nucleotide variant	NM_006158.5(NEFL):c.307A>T (p.Ser103Cys)	not provided [RCV003129016]	uncertain significance	8	24956209	24956209	Human		name
401796660	CV2739639	single nucleotide variant	NM_006158.5(NEFL):c.400C>T (p.Arg134Cys)	Tip-toe gait [RCV003319600]\|not provided [RCV005425130]	likely pathogenic\|uncertain significance\|no classifications from unflagged records	8	24956116	24956116	Human	1	name
401829777	CV2747557	single nucleotide variant	NM_006158.5(NEFL):c.726G>C (p.Gln242His)	not provided [RCV003329023]	uncertain significance	8	24955790	24955790	Human		name
401855725	CV2753167	single nucleotide variant	NM_006158.5(NEFL):c.311T>G (p.Phe104Cys)	Charcot-Marie-Tooth disease type 1F [RCV003338223]	uncertain significance	8	24956205	24956205	Human	1	name
401925754	CV2820972	single nucleotide variant	NM_006158.5(NEFL):c.311T>C (p.Phe104Ser)	not provided [RCV003436813]	uncertain significance	8	24956205	24956205	Human		name
404980773	CV2850609	single nucleotide variant	NM_006158.5(NEFL):c.370G>A (p.Val124Met)	not provided [RCV003488140]	uncertain significance	8	24956146	24956146	Human		name
405015672	CV2855595	deletion	NM_006158.5(NEFL):c.1332del (p.Ser445fs)	Charcot-Marie-Tooth disease type 2E [RCV003515378]	uncertain significance	8	24953633	24953633	Human	1	name
405017136	CV2866666	single nucleotide variant	NM_006158.5(NEFL):c.968G>A (p.Arg323Gln)	Charcot-Marie-Tooth disease type 2E [RCV003515481]	uncertain significance	8	24955548	24955548	Human	1	name
405018025	CV2878191	single nucleotide variant	NM_006158.5(NEFL):c.586C>A (p.Arg196Ser)	Charcot-Marie-Tooth disease type 2E [RCV003515619]	uncertain significance	8	24955930	24955930	Human	1	name
405003216	CV2891877	single nucleotide variant	NM_006158.5(NEFL):c.503A>G (p.Glu168Gly)	Charcot-Marie-Tooth disease type 2E [RCV003514092]	uncertain significance	8	24956013	24956013	Human	1	name
405025285	CV2905053	single nucleotide variant	NM_006158.5(NEFL):c.932T>C (p.Leu311Pro)	Charcot-Marie-Tooth disease type 2E [RCV003516311]	uncertain significance	8	24955584	24955584	Human	1	name
8564004	CV29067	single nucleotide variant	NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)	Charcot-Marie-Tooth disease type 2E [RCV000015072]\|not provided [RCV000057151]	pathogenic\|not provided	8	24955521	24955521	Human	1	name
8564010	CV29073	single nucleotide variant	NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)	Charcot-Marie-Tooth disease type 1F [RCV000015079]\|not provided [RCV000057137]	pathogenic\|not provided	8	24956098	24956098	Human	1	name
405020599	CV2931567	single nucleotide variant	NM_006158.5(NEFL):c.818T>C (p.Met273Thr)	Charcot-Marie-Tooth disease type 2E [RCV003515869]	uncertain significance	8	24955698	24955698	Human	1	name
402519432	CV2959023	single nucleotide variant	NM_006158.5(NEFL):c.556G>C (p.Glu186Gln)	Charcot-Marie-Tooth disease type 2E [RCV003630107]	uncertain significance	8	24955960	24955960	Human	1	name
402521201	CV2974286	single nucleotide variant	NM_006158.5(NEFL):c.514C>T (p.Arg172Cys)	Charcot-Marie-Tooth disease type 2E [RCV003630222]	uncertain significance	8	24956002	24956002	Human	1	name
405043170	CV2998285	single nucleotide variant	NM_006158.5(NEFL):c.682G>A (p.Glu228Lys)	Charcot-Marie-Tooth disease type 2E [RCV003630573]	uncertain significance	8	24955834	24955834	Human	1	name
405044428	CV3002958	duplication	NM_006158.5(NEFL):c.1240dup (p.Gln414fs)	Charcot-Marie-Tooth disease type 2E [RCV003630688]	pathogenic	8	24953724	24953725	Human	1	name
405049611	CV3025507	single nucleotide variant	NM_006158.5(NEFL):c.836G>T (p.Trp279Leu)	Charcot-Marie-Tooth disease type 2E [RCV003631052]	uncertain significance	8	24955680	24955680	Human	1	name
402504339	CV3030604	single nucleotide variant	NM_006158.5(NEFL):c.422A>C (p.Gln141Pro)	Charcot-Marie-Tooth disease type 2E [RCV003628671]	uncertain significance	8	24956094	24956094	Human	1	name
402513022	CV3049478	single nucleotide variant	NM_006158.5(NEFL):c.841A>G (p.Lys281Glu)	Charcot-Marie-Tooth disease type 2E [RCV003629599]	uncertain significance	8	24955675	24955675	Human	1	name
402508123	CV3055355	single nucleotide variant	NM_006158.5(NEFL):c.748A>C (p.Thr250Pro)	Charcot-Marie-Tooth disease type 2E [RCV003629051]	uncertain significance	8	24955768	24955768	Human	1	name
402508546	CV3056044	single nucleotide variant	NM_006158.5(NEFL):c.763T>C (p.Ser255Pro)	Charcot-Marie-Tooth disease type 2E [RCV003629095]	uncertain significance	8	24955753	24955753	Human	1	name
402516788	CV3058690	single nucleotide variant	NM_006158.5(NEFL):c.533A>G (p.Tyr178Cys)	Charcot-Marie-Tooth disease type 2E [RCV003629733]	uncertain significance	8	24955983	24955983	Human	1	name
402517398	CV3071297	single nucleotide variant	NM_006158.5(NEFL):c.598G>A (p.Asp200Asn)	Charcot-Marie-Tooth disease type 2E [RCV003629956]	uncertain significance	8	24955918	24955918	Human	1	name
402518038	CV3076895	single nucleotide variant	NM_006158.5(NEFL):c.331C>G (p.Leu111Val)	Charcot-Marie-Tooth disease type 2E [RCV003630006]	uncertain significance	8	24956185	24956185	Human	1	name
405165469	CV3125596	single nucleotide variant	NM_006158.5(NEFL):c.365T>G (p.Leu122Arg)	Charcot-Marie-Tooth disease type 2E [RCV003818679]	uncertain significance	8	24956151	24956151	Human	1	name
405180879	CV3159457	single nucleotide variant	NM_006158.5(NEFL):c.542A>C (p.Glu181Ala)	Charcot-Marie-Tooth disease type 2E [RCV003858707]	uncertain significance	8	24955974	24955974	Human	1	name
405666300	CV3349516	single nucleotide variant	NM_006158.5(NEFL):c.328G>A (p.Glu110Lys)	Inborn genetic diseases [RCV004485543]	uncertain significance	8	24956188	24956188	Human	1	name
405666414	CV3349540	single nucleotide variant	NM_006158.5(NEFL):c.650T>G (p.Met217Arg)	Inborn genetic diseases [RCV004485567]	uncertain significance	8	24955866	24955866	Human	1	name
405666507	CV3349558	single nucleotide variant	NM_006158.5(NEFL):c.843G>T (p.Lys281Asn)	Inborn genetic diseases [RCV004485585]	uncertain significance	8	24955673	24955673	Human	1	name
405666528	CV3349562	single nucleotide variant	NM_006158.5(NEFL):c.892G>A (p.Val298Met)	Inborn genetic diseases [RCV004485589]	uncertain significance	8	24955624	24955624	Human	1	name
407427429	CV3411892	single nucleotide variant	NM_006158.5(NEFL):c.610C>T (p.Leu204Phe)	not provided [RCV004592063]	uncertain significance	8	24955906	24955906	Human		name
407526140	CV3454810	single nucleotide variant	NM_006158.5(NEFL):c.613G>A (p.Ala205Thr)	Inborn genetic diseases [RCV004654704]	uncertain significance	8	24955903	24955903	Human	1	name
408381078	CV3501388	single nucleotide variant	NM_006158.5(NEFL):c.313A>T (p.Ile105Phe)	not provided [RCV004727477]	uncertain significance	8	24956203	24956203	Human		name
408392349	CV3528104	single nucleotide variant	NM_006158.5(NEFL):c.836G>A (p.Trp279Ter)	not provided [RCV004775872]	pathogenic	8	24955680	24955680	Human		name
11634443	CV354198	single nucleotide variant	NM_006158.5(NEFL):c.487G>T (p.Glu163Ter)	Charcot-Marie-Tooth disease type 2E [RCV000408890]	pathogenic	8	24956029	24956029	Human	1	name
597721483	CV3555845	single nucleotide variant	NM_006158.5(NEFL):c.884C>T (p.Thr295Ile)	Inborn genetic diseases [RCV004961583]	uncertain significance	8	24955632	24955632	Human	1	name
12837840	CV371773	single nucleotide variant	NM_006158.5(NEFL):c.584C>T (p.Ala195Val)	Charcot-Marie-Tooth disease type 2E [RCV000531003]\|Inborn genetic diseases [RCV002356586]\|not provided [RCV001712264]\|not specified [RCV000425861]	benign\|likely benign\|conflicting interpretations of pathogenicity	8	24955932	24955932	Human	2	name
597652701	CV3730685	single nucleotide variant	NM_006158.5(NEFL):c.454G>A (p.Asp152Asn)	not provided [RCV005000975]	uncertain significance	8	24956062	24956062	Human		name
597830419	CV3735453	single nucleotide variant	NM_006158.5(NEFL):c.616C>A (p.Arg206Ser)	Charcot-Marie-Tooth disease type 2E [RCV005055435]	uncertain significance	8	24955900	24955900	Human	1	name
597847176	CV3736572	single nucleotide variant	NM_006158.5(NEFL):c.428T>G (p.Ile143Ser)	Charcot-Marie-Tooth disease type 2E [RCV005065731]	uncertain significance	8	24956088	24956088	Human	1	name
597914128	CV3740596	single nucleotide variant	NM_006158.5(NEFL):c.389C>G (p.Ser130Cys)	Charcot-Marie-Tooth disease type 2E [RCV005073933]	uncertain significance	8	24956127	24956127	Human	1	name
597934975	CV3777143	single nucleotide variant	NM_006158.5(NEFL):c.720C>G (p.Tyr240Ter)	Charcot-Marie-Tooth disease type 2E [RCV005117302]	pathogenic	8	24955796	24955796	Human	1	name
597932983	CV3780845	single nucleotide variant	NM_006158.5(NEFL):c.439C>T (p.Arg147Cys)	Charcot-Marie-Tooth disease type 2E [RCV005116957]	uncertain significance	8	24956077	24956077	Human	1	name
597943288	CV3786415	single nucleotide variant	NM_006158.5(NEFL):c.568G>A (p.Gly190Ser)	Charcot-Marie-Tooth disease type 2E [RCV005134106]	uncertain significance	8	24955948	24955948	Human	1	name
597840967	CV3825358	single nucleotide variant	NM_006158.5(NEFL):c.653A>C (p.Asp218Ala)	Charcot-Marie-Tooth disease type 2E [RCV005172041]	uncertain significance	8	24955863	24955863	Human	1	name
597844511	CV3827471	single nucleotide variant	NM_006158.5(NEFL):c.449C>T (p.Ala150Val)	Charcot-Marie-Tooth disease type 2E [RCV005172742]	uncertain significance	8	24956067	24956067	Human	1	name
597832290	CV3830964	single nucleotide variant	NM_006158.5(NEFL):c.339G>T (p.Gln113His)	Charcot-Marie-Tooth disease type 2E [RCV005170361]	likely benign	8	24956177	24956177	Human	1	name
597971723	CV3833161	single nucleotide variant	NM_006158.5(NEFL):c.643A>G (p.Ser215Gly)	Charcot-Marie-Tooth disease type 2E [RCV005167058]	uncertain significance	8	24955873	24955873	Human	1	name
597963267	CV3841471	single nucleotide variant	NM_006158.5(NEFL):c.819G>T (p.Met273Ile)	Charcot-Marie-Tooth disease type 2E [RCV005193575]	uncertain significance	8	24955697	24955697	Human	1	name
597950192	CV3846882	single nucleotide variant	NM_006158.5(NEFL):c.417C>A (p.Tyr139Ter)	Charcot-Marie-Tooth disease type 2E [RCV005190053]	pathogenic	8	24956099	24956099	Human	1	name
597891837	CV3856611	single nucleotide variant	NM_006158.5(NEFL):c.556G>T (p.Glu186Ter)	Charcot-Marie-Tooth disease type 2E [RCV005200677]	pathogenic	8	24955960	24955960	Human	1	name
597935511	CV3863702	single nucleotide variant	NM_006158.5(NEFL):c.395C>G (p.Pro132Arg)	not provided [RCV005207515]	uncertain significance	8	24956121	24956121	Human		name
8567930	CV38758	single nucleotide variant	NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)	Charcot-Marie-Tooth disease type 1F [RCV000022674]	pathogenic	8	24955888	24955888	Human	1	name
12882835	CV396416	single nucleotide variant	NM_006158.5(NEFL):c.821A>G (p.Gln274Arg)	Charcot-Marie-Tooth disease type 2E [RCV000460408]\|Inborn genetic diseases [RCV004022902]	likely benign\|uncertain significance	8	24955695	24955695	Human	2	name
12885404	CV396504	single nucleotide variant	NM_006158.5(NEFL):c.688G>A (p.Glu230Lys)	Charcot-Marie-Tooth disease type 2E [RCV000465280]\|Inborn genetic diseases [RCV002374815]	uncertain significance	8	24955828	24955828	Human	2	name
12885950	CV396510	single nucleotide variant	NM_006158.5(NEFL):c.579G>A (p.Met193Ile)	Charcot-Marie-Tooth disease type 2E [RCV000466337]\|Inborn genetic diseases [RCV002356710]\|not provided [RCV000999003]	uncertain significance	8	24955937	24955937	Human	2	name
12892160	CV396772	single nucleotide variant	NM_006158.5(NEFL):c.882C>A (p.Asn294Lys)	Charcot-Marie-Tooth disease type 2E [RCV000458831]	uncertain significance	8	24955634	24955634	Human	1	name
598254231	CV3990649	single nucleotide variant	NM_006158.5(NEFL):c.517A>C (p.Asn173His)	Inborn genetic diseases [RCV005385470]	uncertain significance	8	24955999	24955999	Human	1	name
598208495	CV4007712	single nucleotide variant	NM_006158.5(NEFL):c.923G>C (p.Ser308Thr)	Charcot-Marie-Tooth disease type 1F [RCV005400026]	uncertain significance	8	24955593	24955593	Human	1	name
13477821	CV441227	single nucleotide variant	NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)	Charcot-Marie-Tooth disease type 1F [RCV002490884]\|Charcot-Marie-Tooth disease type 2E [RCV000809657]\|Hereditary motor neuron disease [RCV001027486]\|Inborn genetic diseases [RCV002420299]\|not provided [RCV001584230]\|not specified [RCV000516482]	likely pathogenic\|uncertain significance	8	24955723	24955723	Human	5	name
13470871	CV441228	single nucleotide variant	NM_006158.5(NEFL):c.716A>G (p.Gln239Arg)	Charcot-Marie-Tooth disease type 2E [RCV000546476]\|Inborn genetic diseases [RCV002525054]\|not specified [RCV000518369]	uncertain significance	8	24955800	24955800	Human	2	name
13480488	CV441229	single nucleotide variant	NM_006158.5(NEFL):c.572G>A (p.Arg191Gln)	Charcot-Marie-Tooth disease type 2E [RCV001857912]\|not specified [RCV000517287]	uncertain significance	8	24955944	24955944	Human	1	name
13494578	CV457720	single nucleotide variant	NM_006158.5(NEFL):c.796G>A (p.Glu266Lys)	Charcot-Marie-Tooth disease type 2E [RCV000559005]\|Inborn genetic diseases [RCV004023992]\|not provided [RCV001755833]	pathogenic\|likely pathogenic\|uncertain significance	8	24955720	24955720	Human	2	name
13495709	CV458312	single nucleotide variant	NM_006158.5(NEFL):c.983C>A (p.Ala328Glu)	Charcot-Marie-Tooth disease type 2E [RCV000559816]	uncertain significance	8	24955533	24955533	Human	1	name
13485254	CV458357	single nucleotide variant	NM_006158.5(NEFL):c.797A>G (p.Glu266Gly)	Charcot-Marie-Tooth disease type 2E [RCV000530689]	uncertain significance	8	24955719	24955719	Human	1	name
13488514	CV458365	single nucleotide variant	NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)	Charcot-Marie-Tooth disease [RCV001173732]\|Charcot-Marie-Tooth disease type 2E [RCV000554848]\|Inborn genetic diseases [RCV002358503]\|NEFL-related disorder [RCV003942793]\|not provided [RCV003884612]	benign\|likely benign	8	24955934	24955934	Human	3	name , trait , alternate_id
8571056	CV49661	single nucleotide variant	NM_006158.5(NEFL):c.446C>T (p.Ala149Val)	Charcot-Marie-Tooth disease type 1F [RCV000034137]\|Charcot-Marie-Tooth disease type 2E [RCV001364663]\|not provided [RCV000057139]	pathogenic\|uncertain significance\|not provided	8	24956070	24956070	Human	2	name
13609457	CV523419	single nucleotide variant	NM_006158.5(NEFL):c.593G>C (p.Gly198Ala)	Charcot-Marie-Tooth disease type 2E [RCV000640660]	uncertain significance	8	24955923	24955923	Human	1	name
13609453	CV523988	single nucleotide variant	NM_006158.5(NEFL):c.761T>C (p.Leu254Pro)	Charcot-Marie-Tooth disease type 2E [RCV000640657]	uncertain significance	8	24955755	24955755	Human	1	name
13706422	CV537522	single nucleotide variant	NM_006158.5(NEFL):c.353T>G (p.Leu118Arg)	not provided [RCV000659102]	uncertain significance	8	24956163	24956163	Human		name
13812750	CV562270	single nucleotide variant	NM_006158.5(NEFL):c.755C>T (p.Pro252Leu)	Charcot-Marie-Tooth disease type 2E [RCV000689664]\|Inborn genetic diseases [RCV002388223]	uncertain significance	8	24955761	24955761	Human	2	name
13807854	CV562272	single nucleotide variant	NM_006158.5(NEFL):c.608C>T (p.Ala203Val)	Charcot-Marie-Tooth disease type 2E [RCV000686994]	uncertain significance	8	24955908	24955908	Human	1	name
13810346	CV562273	single nucleotide variant	NM_006158.5(NEFL):c.530G>T (p.Arg177Leu)	Charcot-Marie-Tooth disease type 2E [RCV000688199]	uncertain significance	8	24955986	24955986	Human	1	name
13812601	CV564969	single nucleotide variant	NM_006158.5(NEFL):c.668T>C (p.Leu223Pro)	Charcot-Marie-Tooth disease type 2E [RCV000703803]	uncertain significance	8	24955848	24955848	Human	1	name
13811782	CV564971	single nucleotide variant	NM_006158.5(NEFL):c.490C>G (p.Arg164Gly)	Charcot-Marie-Tooth disease type 2E [RCV000688987]\|not provided [RCV000992440]	uncertain significance	8	24956026	24956026	Human	1	name
13811195	CV567738	single nucleotide variant	NM_006158.5(NEFL):c.418G>A (p.Glu140Lys)	Charcot-Marie-Tooth disease type 2E [RCV000688624]\|Charcot-Marie-Tooth disease, dominant intermediate G [RCV002289963]	uncertain significance	8	24956098	24956098	Human	2	name
14722864	CV637034	single nucleotide variant	NM_006158.5(NEFL):c.808G>T (p.Ala270Ser)	Charcot-Marie-Tooth disease type 2E [RCV000814107]	uncertain significance	8	24955708	24955708	Human	1	name
14730914	CV637035	single nucleotide variant	NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)	Charcot-Marie-Tooth disease [RCV001027485]\|Charcot-Marie-Tooth disease type 2E [RCV000801161]\|Inborn genetic diseases [RCV002386421]	likely pathogenic\|uncertain significance	8	24955773	24955773	Human	3	name
14723222	CV637036	single nucleotide variant	NM_006158.5(NEFL):c.677T>C (p.Val226Ala)	Charcot-Marie-Tooth disease type 2E [RCV000797873]	uncertain significance	8	24955839	24955839	Human	1	name
14730067	CV637037	single nucleotide variant	NM_006158.5(NEFL):c.637A>G (p.Ile213Val)	Charcot-Marie-Tooth disease [RCV001172739]\|Charcot-Marie-Tooth disease type 2E [RCV000800798]	uncertain significance	8	24955879	24955879	Human	2	name
14710527	CV637038	single nucleotide variant	NM_006158.5(NEFL):c.598G>C (p.Asp200His)	Charcot-Marie-Tooth disease type 2E [RCV000793148]	uncertain significance	8	24955918	24955918	Human	1	name
14722121	CV637039	single nucleotide variant	NM_006158.5(NEFL):c.532T>A (p.Tyr178Asn)	Charcot-Marie-Tooth disease type 2E [RCV000813772]	uncertain significance	8	24955984	24955984	Human	1	name
14711074	CV637040	single nucleotide variant	NM_006158.5(NEFL):c.443T>A (p.Leu148Gln)	Charcot-Marie-Tooth disease type 2E [RCV000809813]\|not provided [RCV002462171]	uncertain significance	8	24956073	24956073	Human	1	name
14726352	CV637041	single nucleotide variant	NM_006158.5(NEFL):c.415T>A (p.Tyr139Asn)	Charcot-Marie-Tooth disease type 2E [RCV000799169]	uncertain significance	8	24956101	24956101	Human	1	name
14712322	CV655860	single nucleotide variant	NM_006158.5(NEFL):c.509C>G (p.Thr170Ser)	Charcot-Marie-Tooth disease [RCV001173040]\|not provided [RCV000828359]	likely benign\|uncertain significance	8	24956007	24956007	Human	1	name
14978051	CV676963	single nucleotide variant	NM_006158.5(NEFL):c.837G>A (p.Trp279Ter)	Peripheral neuropathy [RCV001836904]	likely pathogenic	8	24955679	24955679	Human	2	name
15108571	CV683009	deletion	NM_006158.5(NEFL):c.1414del (p.Ser472fs)	Charcot-Marie-Tooth disease [RCV000857189]\|Distal spinal muscular atrophy [RCV000857190]	uncertain significance	8	24953551	24953551	Human	2	name
15108577	CV683010	deletion	NM_006158.5(NEFL):c.1413del (p.Ser472fs)	Charcot-Marie-Tooth disease [RCV000857191]	uncertain significance	8	24953552	24953552	Human	1	name
15108602	CV683014	single nucleotide variant	NM_006158.5(NEFL):c.898G>A (p.Ala300Thr)	Charcot-Marie-Tooth disease, type I [RCV000857199]	uncertain significance	8	24955618	24955618	Human	1	name
8654989	CV77577	duplication	NM_006158.5(NEFL):c.1576dup (p.Glu526fs)	not provided [RCV000057122]	not provided	8	24952865	24952866	Human		name
8622569	CV77591	duplication	NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)	Charcot-Marie-Tooth disease [RCV000790245]\|Charcot-Marie-Tooth disease type 2E [RCV000015077]\|not provided [RCV000057141]	pathogenic\|uncertain significance\|not provided	8	24956455	24956456	Human	2	name
8622570	CV77592	single nucleotide variant	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	Charcot-Marie-Tooth disease [RCV001173051]\|Charcot-Marie-Tooth disease type 1F [RCV001160882]\|Charcot-Marie-Tooth disease type 2E [RCV001081393]\|Inborn genetic diseases [RCV002362689]\|NEFL-related disorder [RCV003925018]\|not provided [RCV000057142]\|not specified ... (more) [RCV000507003]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided	8	24955877	24955877	Human	4	name , trait , alternate_id
8622573	CV77595	single nucleotide variant	NM_006158.5(NEFL):c.803T>C (p.Leu268Pro)	Peripheral neuropathy [RCV001836726]\|not provided [RCV000057148]	pathogenic\|not provided	8	24955713	24955713	Human	2	name
8622576	CV77598	single nucleotide variant	NM_006158.5(NEFL):c.998T>C (p.Leu333Pro)	Charcot-Marie-Tooth disease type 2E [RCV002513735]\|not provided [RCV000057152]	uncertain significance\|not provided	8	24955518	24955518	Human	1	name
21066955	CV793280	single nucleotide variant	NM_006158.5(NEFL):c.865G>T (p.Glu289Ter)	Charcot-Marie-Tooth disease type 2E [RCV001858751]\|not provided [RCV000992441]	pathogenic\|likely pathogenic	8	24955651	24955651	Human	1	name
26888194	CV834558	single nucleotide variant	NM_006158.5(NEFL):c.509C>T (p.Thr170Ile)	Charcot-Marie-Tooth disease type 2E [RCV001045752]\|not provided [RCV002286804]	uncertain significance	8	24956007	24956007	Human	1	name
26888190	CV834559	single nucleotide variant	NM_006158.5(NEFL):c.493G>A (p.Glu165Lys)	Charcot-Marie-Tooth disease type 2E [RCV001045735]	uncertain significance	8	24956023	24956023	Human	1	name
28876728	CV859658	single nucleotide variant	NM_006158.5(NEFL):c.431G>A (p.Arg144His)	Charcot-Marie-Tooth disease type 2E [RCV001772313]\|not provided [RCV001090304]	uncertain significance	8	24956085	24956085	Human	1	name
28909801	CV899373	single nucleotide variant	NM_006158.5(NEFL):c.540G>C (p.Glu180Asp)	Charcot-Marie-Tooth disease type 1F [RCV001160885]	uncertain significance	8	24955976	24955976	Human	1	name
28909804	CV899375	single nucleotide variant	NM_006158.5(NEFL):c.339G>C (p.Gln113His)	Charcot-Marie-Tooth disease [RCV001172732]\|Charcot-Marie-Tooth disease type 1F [RCV001160887]\|Inborn genetic diseases [RCV002451344]	likely benign\|uncertain significance	8	24956177	24956177	Human	3	name
28868447	CV899376	single nucleotide variant	NM_006158.5(NEFL):c.338A>C (p.Gln113Pro)	Charcot-Marie-Tooth disease [RCV001172733]\|Charcot-Marie-Tooth disease type 1F [RCV001162497]\|Inborn genetic diseases [RCV001267223]	likely benign\|uncertain significance	8	24956178	24956178	Human	3	name
34889782	CV905228	single nucleotide variant	NM_006158.5(NEFL):c.967C>T (p.Arg323Trp)	Charcot-Marie-Tooth disease [RCV001173042]\|Inborn genetic diseases [RCV002375051]	uncertain significance	8	24955549	24955549	Human	2	name
34889625	CV905232	single nucleotide variant	NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)	Charcot-Marie-Tooth disease [RCV001172729]	likely pathogenic	8	24955975	24955975	Human	1	name
34889638	CV905234	single nucleotide variant	NM_006158.5(NEFL):c.304G>T (p.Ala102Ser)	Charcot-Marie-Tooth disease [RCV001172741]\|Charcot-Marie-Tooth disease type 2E [RCV003769849]	uncertain significance	8	24956212	24956212	Human	2	name
38486714	CV934234	single nucleotide variant	NM_006158.5(NEFL):c.845G>A (p.Ser282Asn)	Charcot-Marie-Tooth disease type 2E [RCV001209013]	uncertain significance	8	24955671	24955671	Human	1	name
38486868	CV934235	single nucleotide variant	NM_006158.5(NEFL):c.619G>C (p.Ala207Pro)	Charcot-Marie-Tooth disease type 2E [RCV001209079]	uncertain significance	8	24955897	24955897	Human	1	name
38496288	CV946003	single nucleotide variant	NM_006158.5(NEFL):c.712A>T (p.Ile238Phe)	Charcot-Marie-Tooth disease type 2E [RCV001226290]	uncertain significance	8	24955804	24955804	Human	1	name
38499947	CV955385	single nucleotide variant	NM_006158.5(NEFL):c.721G>A (p.Ala241Thr)	Charcot-Marie-Tooth disease type 2E [RCV001245297]\|not provided [RCV001751493]	uncertain significance	8	24955795	24955795	Human	1	name
38498250	CV955386	single nucleotide variant	NM_006158.5(NEFL):c.614C>T (p.Ala205Val)	Charcot-Marie-Tooth disease type 2E [RCV001243684]	uncertain significance	8	24955902	24955902	Human	1	name
38597754	CV964301	single nucleotide variant	NM_006158.5(NEFL):c.298C>T (p.Arg100Cys)	Charcot-Marie-Tooth disease type 2E [RCV001253085]	uncertain significance	8	24956218	24956218	Human	1	name
41405078	CV981619	single nucleotide variant	NM_006158.5(NEFL):c.781A>G (p.Ile261Val)	not provided [RCV001812377]	uncertain significance	8	24955735	24955735	Human		name
41406285	CV982695	single nucleotide variant	NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)	Charcot-Marie-Tooth disease type 2E [RCV002542991]\|Inborn genetic diseases [RCV002375331]\|not provided [RCV001288257]	uncertain significance	8	24955634	24955634	Human	2	name
126734625	CV992724	single nucleotide variant	NM_006158.5(NEFL):c.769G>A (p.Ala257Thr)	Charcot-Marie-Tooth disease type 2E [RCV001303246]	uncertain significance	8	24955747	24955747	Human	1	name
126734106	CV992725	single nucleotide variant	NM_006158.5(NEFL):c.509C>A (p.Thr170Asn)	Charcot-Marie-Tooth disease type 2E [RCV001296142]	uncertain significance	8	24956007	24956007	Human	1	name
126735291	CV1007948	single nucleotide variant	NM_006158.5(NEFL):c.1597G>C (p.Ala533Pro)	Charcot-Marie-Tooth disease type 2E [RCV001313029]	uncertain significance	8	24952845	24952845	Human	1	name
126735821	CV1007950	single nucleotide variant	NM_006158.5(NEFL):c.1356C>G (p.Ile452Met)	Charcot-Marie-Tooth disease type 2E [RCV001321435]	uncertain significance	8	24953609	24953609	Human	1	name
126765833	CV1028466	single nucleotide variant	NM_006158.5(NEFL):c.1627G>A (p.Asp543Asn)	Charcot-Marie-Tooth disease type 2E [RCV001342188]	uncertain significance	8	24952815	24952815	Human	1	name
126908494	CV1045439	single nucleotide variant	NM_006158.5(NEFL):c.1391A>T (p.Glu464Val)	Charcot-Marie-Tooth disease type 2E [RCV001367925]	uncertain significance	8	24953574	24953574	Human	1	name
126917015	CV1045440	single nucleotide variant	NM_006158.5(NEFL):c.1190A>G (p.Glu397Gly)	Charcot-Marie-Tooth disease type 2E [RCV001360918]	uncertain significance	8	24953775	24953775	Human	1	name
126913643	CV1045441	single nucleotide variant	NM_006158.5(NEFL):c.1160C>A (p.Ala387Glu)	Charcot-Marie-Tooth disease type 2E [RCV001359250]	uncertain significance	8	24954190	24954190	Human	1	name
127260474	CV1061293	single nucleotide variant	NM_006158.5(NEFL):c.1099C>T (p.Arg367Ter)	Charcot-Marie-Tooth disease type 2E [RCV001387360]	pathogenic	8	24954251	24954251	Human	1	name
127287194	CV1152309	single nucleotide variant	NM_006158.5(NEFL):c.1532G>A (p.Gly511Glu)	Charcot-Marie-Tooth disease type 2E [RCV003514502]\|not provided [RCV001507725]	uncertain significance	8	24952910	24952910	Human	1	name
150550243	CV1300139	single nucleotide variant	NM_006158.5(NEFL):c.1284G>C (p.Gln428His)	Charcot-Marie-Tooth disease type 2E [RCV005057584]\|Inborn genetic diseases [RCV004040188]\|not provided [RCV001765609]	uncertain significance	8	24953681	24953681	Human	2	name
150549670	CV1301135	single nucleotide variant	NM_006158.5(NEFL):c.1579G>A (p.Glu527Lys)	not provided [RCV001765276]	uncertain significance	8	24952863	24952863	Human		name
150550294	CV1302738	single nucleotide variant	NM_006158.5(NEFL):c.1142C>T (p.Ala381Val)	not provided [RCV001752860]	uncertain significance	8	24954208	24954208	Human		name
151233260	CV1317019	single nucleotide variant	NM_006158.5(NEFL):c.1482G>T (p.Glu494Asp)	not provided [RCV001786840]	uncertain significance	8	24953483	24953483	Human		name
151827177	CV1341086	single nucleotide variant	NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly)	Charcot-Marie-Tooth disease type 2E [RCV001955319]	uncertain significance	8	24952913	24952913	Human	1	name
151830013	CV1345106	single nucleotide variant	NM_006158.5(NEFL):c.1379C>T (p.Ala460Val)	Charcot-Marie-Tooth disease type 2E [RCV001870444]	uncertain significance	8	24953586	24953586	Human	1	name
151780120	CV1355830	single nucleotide variant	NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys)	Charcot-Marie-Tooth disease type 2E [RCV002046082]\|Inborn genetic diseases [RCV002386933]	uncertain significance	8	24953656	24953656	Human	2	name
151787103	CV1390300	single nucleotide variant	NM_006158.5(NEFL):c.1505C>T (p.Ser502Phe)	Charcot-Marie-Tooth disease type 2E [RCV001931023]	uncertain significance	8	24952937	24952937	Human	1	name
151879629	CV1395636	single nucleotide variant	NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser)	Charcot-Marie-Tooth disease type 2E [RCV001999365]	uncertain significance	8	24954193	24954193	Human	1	name
151799448	CV1396499	single nucleotide variant	NM_006158.5(NEFL):c.1457C>A (p.Ala486Asp)	Charcot-Marie-Tooth disease type 2E [RCV001917576]	uncertain significance	8	24953508	24953508	Human	1	name
151891982	CV1403388	single nucleotide variant	NM_006158.5(NEFL):c.1558A>T (p.Thr520Ser)	Charcot-Marie-Tooth disease type 2E [RCV001943633]	uncertain significance	8	24952884	24952884	Human	1	name
151880280	CV1411294	single nucleotide variant	NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu)	Charcot-Marie-Tooth disease type 2E [RCV002020053]	uncertain significance	8	24953794	24953794	Human	1	name
151765060	CV1418675	single nucleotide variant	NM_006158.5(NEFL):c.1054A>C (p.Asn352His)	Charcot-Marie-Tooth disease type 2E [RCV001928961]\|Inborn genetic diseases [RCV002397921]	uncertain significance	8	24954296	24954296	Human	2	name
151730006	CV1420384	single nucleotide variant	NM_006158.5(NEFL):c.1310G>A (p.Arg437His)	Charcot-Marie-Tooth disease type 2E [RCV002041097]\|Inborn genetic diseases [RCV002386923]\|not provided [RCV003883742]	uncertain significance	8	24953655	24953655	Human	2	name
151741521	CV1425419	single nucleotide variant	NM_006158.5(NEFL):c.1618A>G (p.Lys540Glu)	Charcot-Marie-Tooth disease type 2E [RCV001926509]	uncertain significance	8	24952824	24952824	Human	1	name
151828101	CV1438041	single nucleotide variant	NM_006158.5(NEFL):c.1180G>A (p.Glu394Lys)	Charcot-Marie-Tooth disease type 2E [RCV001920221]	uncertain significance	8	24953785	24953785	Human	1	name
151806748	CV1449864	single nucleotide variant	NM_006158.5(NEFL):c.1315T>C (p.Phe439Leu)	Charcot-Marie-Tooth disease type 2E [RCV001899568]	uncertain significance	8	24953650	24953650	Human	1	name
151824260	CV1466401	single nucleotide variant	NM_006158.5(NEFL):c.1327T>A (p.Tyr443Asn)	Charcot-Marie-Tooth disease type 2E [RCV001879507]\|NEFL-related disorder [RCV004757486]	uncertain significance	8	24953638	24953638	Human	1	name , trait , alternate_id
151717300	CV1470872	single nucleotide variant	NM_006158.5(NEFL):c.1343A>G (p.Gln448Arg)	Charcot-Marie-Tooth disease type 2E [RCV001909156]	uncertain significance	8	24953622	24953622	Human	1	name
151753811	CV1471232	single nucleotide variant	NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp)	Charcot-Marie-Tooth disease type 2E [RCV001948416]\|Inborn genetic diseases [RCV002560689]\|not provided [RCV005409853]	uncertain significance	8	24952847	24952847	Human	2	name
151767615	CV1486090	single nucleotide variant	NM_006158.5(NEFL):c.1412C>A (p.Pro471His)	Charcot-Marie-Tooth disease type 2E [RCV002044928]	uncertain significance	8	24953553	24953553	Human	1	name
151754895	CV1498829	single nucleotide variant	NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp)	Charcot-Marie-Tooth disease type 2E [RCV002023755]	uncertain significance	8	24952930	24952930	Human	1	name
151868775	CV1516677	single nucleotide variant	NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser)	Charcot-Marie-Tooth disease type 2E [RCV001981034]\|Inborn genetic diseases [RCV004651898]	uncertain significance	8	24953692	24953692	Human	2	name
9586769	CV165491	single nucleotide variant	NM_006158.5(NEFL):c.1007T>C (p.Leu336Pro)	Charcot-Marie-Tooth disease [RCV001173041]\|not provided [RCV000143807]	likely pathogenic\|uncertain significance	8	24955509	24955509	Human	1	name
9586770	CV165492	single nucleotide variant	NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)	Charcot-Marie-Tooth disease [RCV000789071]\|Charcot-Marie-Tooth disease type 2E [RCV001044771]\|Inborn genetic diseases [RCV002381450]\|not provided [RCV000143808]	pathogenic\|likely pathogenic\|uncertain significance	8	24953646	24953646	Human	3	name
153301589	CV1689230	single nucleotide variant	NM_006158.5(NEFL):c.1459G>A (p.Glu487Lys)	Peripheral neuropathy [RCV002267191]	uncertain significance	8	24953506	24953506	Human	2	name
155677863	CV1778706	single nucleotide variant	NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln)	Charcot-Marie-Tooth disease type 2E [RCV002299747]\|Inborn genetic diseases [RCV002363757]	uncertain significance	8	24954197	24954197	Human	2	name
155727522	CV1798095	single nucleotide variant	NM_006158.5(NEFL):c.1175T>G (p.Leu392Arg)	Inborn genetic diseases [RCV002328245]	uncertain significance	8	24953790	24953790	Human	1	name
155731832	CV1808709	single nucleotide variant	NM_006158.5(NEFL):c.1015A>C (p.Lys339Gln)	Inborn genetic diseases [RCV002340092]	uncertain significance	8	24955501	24955501	Human	1	name
155722133	CV1821770	single nucleotide variant	NM_006158.5(NEFL):c.1309C>G (p.Arg437Gly)	Inborn genetic diseases [RCV002381031]	uncertain significance	8	24953656	24953656	Human	1	name
155684068	CV1830337	single nucleotide variant	NM_006158.5(NEFL):c.1493C>T (p.Ala498Val)	Inborn genetic diseases [RCV002389748]	uncertain significance	8	24952949	24952949	Human	1	name
155720247	CV1830708	single nucleotide variant	NM_006158.5(NEFL):c.1571A>G (p.Glu524Gly)	Inborn genetic diseases [RCV002405658]	uncertain significance	8	24952871	24952871	Human	1	name
155720778	CV1830800	single nucleotide variant	NM_006158.5(NEFL):c.1576G>C (p.Glu526Gln)	Inborn genetic diseases [RCV002405728]	uncertain significance	8	24952866	24952866	Human	1	name
155670193	CV1832291	single nucleotide variant	NM_006158.5(NEFL):c.1317C>A (p.Phe439Leu)	Inborn genetic diseases [RCV002385589]	uncertain significance	8	24953648	24953648	Human	1	name
155723575	CV1832515	single nucleotide variant	NM_006158.5(NEFL):c.1382C>T (p.Ala461Val)	Inborn genetic diseases [RCV002381196]	uncertain significance	8	24953583	24953583	Human	1	name
155733308	CV1836075	single nucleotide variant	NM_006158.5(NEFL):c.1366G>A (p.Glu456Lys)	Inborn genetic diseases [RCV002383593]	uncertain significance	8	24953599	24953599	Human	1	name
155733639	CV1842673	single nucleotide variant	NM_006158.5(NEFL):c.1005G>C (p.Glu335Asp)	Inborn genetic diseases [RCV002408244]	uncertain significance	8	24955511	24955511	Human	1	name
156061753	CV1868118	single nucleotide variant	NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys)	Charcot-Marie-Tooth disease type 2E [RCV003037286]	likely pathogenic	8	24954184	24954184	Human	1	name
10046786	CV190114	single nucleotide variant	NM_006158.5(NEFL):c.1261C>T (p.Arg421Ter)	Charcot-Marie-Tooth disease [RCV001174357]\|Charcot-Marie-Tooth disease type 2E [RCV000172912]\|not provided [RCV004821990]	pathogenic	8	24953704	24953704	Human	2	name
156070169	CV1952658	single nucleotide variant	NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser)	Charcot-Marie-Tooth disease type 2E [RCV002569582]	uncertain significance	8	24954273	24954273	Human	1	name
156211892	CV1997143	single nucleotide variant	NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg)	Charcot-Marie-Tooth disease type 2E [RCV002666875]	uncertain significance	8	24953553	24953553	Human	1	name
156371906	CV2048972	single nucleotide variant	NM_006158.5(NEFL):c.1181A>G (p.Glu394Gly)	Charcot-Marie-Tooth disease type 2E [RCV002814350]	uncertain significance	8	24953784	24953784	Human	1	name
156042774	CV2071703	single nucleotide variant	NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr)	Charcot-Marie-Tooth disease type 2E [RCV002846163]	uncertain significance	8	24954214	24954214	Human	1	name
156200108	CV2153819	single nucleotide variant	NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro)	Charcot-Marie-Tooth disease type 2E [RCV003006294]	uncertain significance	8	24954223	24954223	Human	1	name
156063211	CV2162053	single nucleotide variant	NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln)	Charcot-Marie-Tooth disease type 2E [RCV003019804]	uncertain significance	8	24955507	24955507	Human	1	name
10766857	CV221757	single nucleotide variant	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	Charcot-Marie-Tooth disease type 1F [RCV000764772]\|Charcot-Marie-Tooth disease type 2E [RCV001081473]\|Inborn genetic diseases [RCV002390546]\|not provided [RCV000235949]\|not specified [RCV001657993]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	24952832	24952832	Human	3	name
11092350	CV231696	single nucleotide variant	NM_006158.5(NEFL):c.1588G>T (p.Val530Phe)	Charcot-Marie-Tooth disease type 2E [RCV001309852]\|Inborn genetic diseases [RCV002399798]\|not provided [RCV000218430]	uncertain significance	8	24952854	24952854	Human	2	name
11090830	CV231699	single nucleotide variant	NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)	Charcot-Marie-Tooth disease type 2E [RCV001854762]\|Inborn genetic diseases [RCV002381754]\|not provided [RCV000216546]	uncertain significance	8	24953592	24953592	Human	2	name
11523182	CV244521	single nucleotide variant	NM_006158.5(NEFL):c.1179G>C (p.Leu393Phe)	Charcot-Marie-Tooth disease [RCV000857196]\|Charcot-Marie-Tooth disease type 2E [RCV000640659]\|not provided [RCV001711645]	pathogenic\|likely pathogenic\|uncertain significance	8	24953786	24953786	Human	2	name
329952807	CV2670156	single nucleotide variant	NM_006158.5(NEFL):c.1124T>A (p.Leu375His)	Charcot-Marie-Tooth disease type 2E [RCV003629257]\|not provided [RCV003233366]	uncertain significance	8	24954226	24954226	Human	1	name
329952489	CV2671797	single nucleotide variant	NM_006158.5(NEFL):c.1262G>A (p.Arg421Gln)	Charcot-Marie-Tooth disease type 2E [RCV003514622]\|not provided [RCV003237194]	uncertain significance	8	24953703	24953703	Human	1	name
401763866	CV2700232	single nucleotide variant	NM_006158.5(NEFL):c.1094T>C (p.Met365Thr)	Inborn genetic diseases [RCV003281666]	uncertain significance	8	24954256	24954256	Human	1	name
401739939	CV2738649	single nucleotide variant	NM_006158.5(NEFL):c.1240C>A (p.Gln414Lys)	not provided [RCV003318043]	uncertain significance	8	24953725	24953725	Human		name
401961709	CV2844031	single nucleotide variant	NM_006158.5(NEFL):c.1438G>A (p.Glu480Lys)	not provided [RCV003481871]	uncertain significance	8	24953527	24953527	Human		name
405024448	CV2883951	single nucleotide variant	NM_006158.5(NEFL):c.1097C>T (p.Ala366Val)	Charcot-Marie-Tooth disease type 2E [RCV003516238]	uncertain significance	8	24954253	24954253	Human	1	name
405004038	CV2887875	single nucleotide variant	NM_006158.5(NEFL):c.1576G>A (p.Glu526Lys)	Charcot-Marie-Tooth disease type 2E [RCV003514029]\|Inborn genetic diseases [RCV004654253]	uncertain significance	8	24952866	24952866	Human	2	name
405025277	CV2905052	single nucleotide variant	NM_006158.5(NEFL):c.1150A>T (p.Ile384Phe)	Charcot-Marie-Tooth disease type 2E [RCV003516310]	pathogenic	8	24954200	24954200	Human	1	name
405012358	CV2909653	single nucleotide variant	NM_006158.5(NEFL):c.1156A>G (p.Ile386Val)	Charcot-Marie-Tooth disease type 2E [RCV003515087]	uncertain significance	8	24954194	24954194	Human	1	name
402512743	CV2951160	single nucleotide variant	NM_006158.5(NEFL):c.1247C>T (p.Ser416Phe)	Charcot-Marie-Tooth disease type 2E [RCV003629577]	uncertain significance	8	24953718	24953718	Human	1	name
402522921	CV2973360	single nucleotide variant	NM_006158.5(NEFL):c.1597G>T (p.Ala533Ser)	Charcot-Marie-Tooth disease type 2E [RCV003630353]	uncertain significance	8	24952845	24952845	Human	1	name
402520861	CV2973701	single nucleotide variant	NM_006158.5(NEFL):c.1166A>C (p.Tyr389Ser)	Charcot-Marie-Tooth disease type 2E [RCV003630196]	uncertain significance	8	24954184	24954184	Human	1	name
405047946	CV3013521	single nucleotide variant	NM_006158.5(NEFL):c.1018C>G (p.Gln340Glu)	Charcot-Marie-Tooth disease type 2E [RCV003630929]\|Inborn genetic diseases [RCV004371834]	uncertain significance	8	24955498	24955498	Human	2	name
402507092	CV3050206	single nucleotide variant	NM_006158.5(NEFL):c.1525G>A (p.Glu509Lys)	Charcot-Marie-Tooth disease type 2E [RCV003628922]	uncertain significance	8	24952917	24952917	Human	1	name
402515176	CV3065886	single nucleotide variant	NM_006158.5(NEFL):c.1471G>C (p.Ala491Pro)	Charcot-Marie-Tooth disease type 2E [RCV003629783]	uncertain significance	8	24953494	24953494	Human	1	name
402517329	CV3071157	single nucleotide variant	NM_006158.5(NEFL):c.1514C>T (p.Ala505Val)	Charcot-Marie-Tooth disease type 2E [RCV003629951]	uncertain significance	8	24952928	24952928	Human	1	name
405083569	CV3167199	single nucleotide variant	NM_006158.5(NEFL):c.1065A>T (p.Glu355Asp)	Charcot-Marie-Tooth disease type 2E [RCV003851780]	uncertain significance	8	24954285	24954285	Human	1	name
405083581	CV3167200	single nucleotide variant	NM_006158.5(NEFL):c.1047C>G (p.Asp349Glu)	Charcot-Marie-Tooth disease type 2E [RCV003851781]	uncertain significance	8	24954303	24954303	Human	1	name
405666151	CV3349485	single nucleotide variant	NM_006158.5(NEFL):c.1483G>A (p.Glu495Lys)	Inborn genetic diseases [RCV004485512]	uncertain significance	8	24953482	24953482	Human	1	name
405666188	CV3349492	single nucleotide variant	NM_006158.5(NEFL):c.1504T>A (p.Ser502Thr)	Inborn genetic diseases [RCV004485519]	uncertain significance	8	24952938	24952938	Human	1	name
407489453	CV3454812	single nucleotide variant	NM_006158.5(NEFL):c.1535G>A (p.Gly512Asp)	Inborn genetic diseases [RCV004641470]	uncertain significance	8	24952907	24952907	Human	1	name
407526144	CV3454813	single nucleotide variant	NM_006158.5(NEFL):c.1412C>T (p.Pro471Leu)	Inborn genetic diseases [RCV004654706]	uncertain significance	8	24953553	24953553	Human	1	name
596923449	CV3530432	single nucleotide variant	NM_006158.5(NEFL):c.1339G>T (p.Val447Phe)	not provided [RCV004777031]	uncertain significance	8	24953626	24953626	Human		name
596923512	CV3535924	single nucleotide variant	NM_006158.5(NEFL):c.1357G>T (p.Glu453Ter)	Charcot-Marie-Tooth disease type 1F [RCV004788354]	pathogenic	8	24953608	24953608	Human	1	name
597954193	CV3757160	single nucleotide variant	NM_006158.5(NEFL):c.1559C>A (p.Thr520Asn)	Charcot-Marie-Tooth disease type 2E [RCV005080021]	uncertain significance	8	24952883	24952883	Human	1	name
597877878	CV3763191	single nucleotide variant	NM_006158.5(NEFL):c.1444G>A (p.Asp482Asn)	Charcot-Marie-Tooth disease type 2E [RCV005108786]	uncertain significance	8	24953521	24953521	Human	1	name
597900491	CV3771231	single nucleotide variant	NM_006158.5(NEFL):c.1319C>G (p.Pro440Arg)	Charcot-Marie-Tooth disease type 2E [RCV005112196]	uncertain significance	8	24953646	24953646	Human	1	name
597912819	CV3778290	single nucleotide variant	NM_006158.5(NEFL):c.1019A>G (p.Gln340Arg)	Charcot-Marie-Tooth disease type 2E [RCV005128829]	uncertain significance	8	24955497	24955497	Human	1	name
597889675	CV3804868	single nucleotide variant	NM_006158.5(NEFL):c.1127T>G (p.Leu376Arg)	Charcot-Marie-Tooth disease type 2E [RCV005151130]	uncertain significance	8	24954223	24954223	Human	1	name
597968116	CV3820762	single nucleotide variant	NM_006158.5(NEFL):c.1082C>T (p.Thr361Ile)	Charcot-Marie-Tooth disease type 2E [RCV005165603]	uncertain significance	8	24954268	24954268	Human	1	name
597968110	CV3820834	single nucleotide variant	NM_006158.5(NEFL):c.1342C>A (p.Gln448Lys)	Charcot-Marie-Tooth disease type 2E [RCV005165675]	uncertain significance	8	24953623	24953623	Human	1	name
597969153	CV3821404	single nucleotide variant	NM_006158.5(NEFL):c.1226C>G (p.Thr409Ser)	Charcot-Marie-Tooth disease type 2E [RCV005166046]	uncertain significance	8	24953739	24953739	Human	1	name
597935626	CV3845274	single nucleotide variant	NM_006158.5(NEFL):c.1426G>T (p.Ala476Ser)	Charcot-Marie-Tooth disease type 2E [RCV005186587]	uncertain significance	8	24953539	24953539	Human	1	name
598124797	CV3883685	single nucleotide variant	NM_006158.5(NEFL):c.1465G>A (p.Glu489Lys)	not provided [RCV005236039]	uncertain significance	8	24953500	24953500	Human		name
12880854	CV396414	single nucleotide variant	NM_006158.5(NEFL):c.1006C>G (p.Leu336Val)	Charcot-Marie-Tooth disease [RCV001173730]\|Charcot-Marie-Tooth disease type 2E [RCV000456780]	likely benign	8	24955510	24955510	Human	2	name
12889812	CV396498	single nucleotide variant	NM_006158.5(NEFL):c.1513G>A (p.Ala505Thr)	Charcot-Marie-Tooth disease type 2E [RCV000473439]	uncertain significance	8	24952929	24952929	Human	1	name
12888375	CV396771	single nucleotide variant	NM_006158.5(NEFL):c.1069G>A (p.Glu357Lys)	Charcot-Marie-Tooth disease type 2E [RCV000470770]	uncertain significance	8	24954281	24954281	Human	1	name
616933165	CV4012796	single nucleotide variant	NM_006158.5(NEFL):c.1313C>G (p.Ser438Cys)	not provided [RCV005410258]	uncertain significance	8	24953652	24953652	Human		name
13445995	CV438381	single nucleotide variant	NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)	Charcot-Marie-Tooth disease type 2E [RCV000547572]\|not provided [RCV000513137]	uncertain significance	8	24953536	24953536	Human	1	name
13446166	CV438382	single nucleotide variant	NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)	Charcot-Marie-Tooth disease type 1F [RCV002250649]\|Charcot-Marie-Tooth disease type 2E [RCV005091170]\|not provided [RCV000513356]	pathogenic\|likely pathogenic	8	24953770	24953770	Human	2	name
8571054	CV49659	single nucleotide variant	NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro)	Charcot-Marie-Tooth disease type 2E [RCV000034135]	pathogenic\|not provided	8	24955515	24955515	Human	1	name
13609463	CV523411	single nucleotide variant	NM_006158.5(NEFL):c.1117C>T (p.Gln373Ter)	Charcot-Marie-Tooth disease type 2E [RCV000640663]	pathogenic	8	24954233	24954233	Human	1	name
13609455	CV523974	single nucleotide variant	NM_006158.5(NEFL):c.1175T>A (p.Leu392His)	Charcot-Marie-Tooth disease type 2E [RCV000640658]\|not provided [RCV001090303]	pathogenic\|likely pathogenic\|uncertain significance	8	24953790	24953790	Human	1	name
13609459	CV523981	single nucleotide variant	NM_006158.5(NEFL):c.1462G>A (p.Glu488Lys)	Charcot-Marie-Tooth disease [RCV000857188]\|Charcot-Marie-Tooth disease type 1F [RCV005392207]\|Charcot-Marie-Tooth disease type 2E [RCV000640661]\|Inborn genetic diseases [RCV002388071]	uncertain significance	8	24953503	24953503	Human	4	name
13609461	CV523983	single nucleotide variant	NM_006158.5(NEFL):c.1340T>C (p.Val447Ala)	Charcot-Marie-Tooth disease type 2E [RCV000640662]\|Inborn genetic diseases [RCV004025608]	uncertain significance	8	24953625	24953625	Human	2	name
13816771	CV562265	single nucleotide variant	NM_006158.5(NEFL):c.1333A>G (p.Ser445Gly)	Charcot-Marie-Tooth disease type 2E [RCV000692547]	uncertain significance	8	24953632	24953632	Human	1	name
13811029	CV567732	single nucleotide variant	NM_006158.5(NEFL):c.1154A>T (p.Glu385Val)	Charcot-Marie-Tooth disease type 2E [RCV000688530]	uncertain significance	8	24954196	24954196	Human	1	name
14397295	CV612811	single nucleotide variant	NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)	Charcot-Marie-Tooth disease type 2E [RCV003768297]\|Inborn genetic diseases [RCV002397534]\|not provided [RCV000762500]	uncertain significance	8	24952857	24952857	Human	2	name
14397296	CV612812	single nucleotide variant	NM_006158.5(NEFL):c.1267G>C (p.Ala423Pro)	not provided [RCV000762501]	uncertain significance	8	24953698	24953698	Human		name
14703848	CV637022	single nucleotide variant	NM_006158.5(NEFL):c.1540G>C (p.Gly514Arg)	Charcot-Marie-Tooth disease type 2E [RCV000807556]	uncertain significance	8	24952902	24952902	Human	1	name
14707204	CV637023	single nucleotide variant	NM_006158.5(NEFL):c.1534G>T (p.Gly512Cys)	Charcot-Marie-Tooth disease type 2E [RCV000792253]	uncertain significance	8	24952908	24952908	Human	1	name
14705461	CV637024	single nucleotide variant	NM_006158.5(NEFL):c.1528G>A (p.Glu510Lys)	Charcot-Marie-Tooth disease type 2E [RCV000808122]	uncertain significance	8	24952914	24952914	Human	1	name
14725130	CV637026	single nucleotide variant	NM_006158.5(NEFL):c.1302G>A (p.Met434Ile)	Charcot-Marie-Tooth disease type 2E [RCV000798685]	uncertain significance	8	24953663	24953663	Human	1	name
14702232	CV637027	single nucleotide variant	NM_006158.5(NEFL):c.1292C>G (p.Ser431Cys)	Charcot-Marie-Tooth disease type 2E [RCV000806836]\|not provided [RCV004808885]	uncertain significance	8	24953673	24953673	Human	1	name
14730250	CV637028	single nucleotide variant	NM_006158.5(NEFL):c.1213G>A (p.Val405Met)	Charcot-Marie-Tooth disease type 2E [RCV000800874]	uncertain significance	8	24953752	24953752	Human	1	name
14742200	CV637029	single nucleotide variant	NM_006158.5(NEFL):c.1196G>A (p.Arg399Gln)	Charcot-Marie-Tooth disease type 2E [RCV000822636]	uncertain significance	8	24953769	24953769	Human	1	name
14740990	CV637031	single nucleotide variant	NM_006158.5(NEFL):c.1032C>G (p.Ile344Met)	Charcot-Marie-Tooth disease type 2E [RCV000822054]	uncertain significance	8	24955484	24955484	Human	1	name
14715133	CV637032	single nucleotide variant	NM_006158.5(NEFL):c.1016A>C (p.Lys339Thr)	Charcot-Marie-Tooth disease type 2E [RCV000811127]	uncertain significance	8	24955500	24955500	Human	1	name
15108582	CV683011	single nucleotide variant	NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)	Charcot-Marie-Tooth disease [RCV000857192]\|Charcot-Marie-Tooth disease, type I [RCV000857193]\|Neuronopathy, distal hereditary motor, autosomal dominant [RCV000857194]	uncertain significance	8	24953635	24953635	Human	3	name
15108589	CV683012	single nucleotide variant	NM_006158.5(NEFL):c.1236C>A (p.Tyr412Ter)	Charcot-Marie-Tooth disease [RCV000857195]	uncertain significance	8	24953729	24953729	Human	1	name
15108599	CV683013	single nucleotide variant	NM_006158.5(NEFL):c.1037C>A (p.Ala346Asp)	Charcot-Marie-Tooth disease [RCV000857198]\|Charcot-Marie-Tooth disease type 2E [RCV002256559]	uncertain significance	8	24955479	24955479	Human	2	name
8622547	CV77568	single nucleotide variant	NM_006158.5(NEFL):c.1186G>A (p.Glu396Lys)	Charcot-Marie-Tooth disease [RCV001174356]\|Charcot-Marie-Tooth disease type 1F [RCV005406797]\|Charcot-Marie-Tooth disease type 2E [RCV000534161]\|Charcot-Marie-Tooth disease, dominant intermediate G [RCV000585797]\|not provided [RCV000057113]	pathogenic\|not provided	8	24953779	24953779	Human	4	name
8622548	CV77569	single nucleotide variant	NM_006158.5(NEFL):c.1189G>A (p.Glu397Lys)	not provided [RCV000057114]	not provided	8	24953776	24953776	Human		name
8622551	CV77572	single nucleotide variant	NM_006158.5(NEFL):c.1329C>A (p.Tyr443Ter)	not provided [RCV000057117]	not provided	8	24953636	24953636	Human		name
8622552	CV77573	single nucleotide variant	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	Charcot-Marie-Tooth disease [RCV001173044]\|Charcot-Marie-Tooth disease type 1F [RCV000311183]\|Charcot-Marie-Tooth disease type 2E [RCV001082150]\|Inborn genetic diseases [RCV002390203]\|not provided [RCV000057118]\|not specified [RCV000444012]	benign\|likely benign\|not provided	8	24953563	24953563	Human	4	name
8622554	CV77575	single nucleotide variant	NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)	Charcot-Marie-Tooth disease type 2E [RCV001854170]\|not provided [RCV000057120]\|not specified [RCV000789605]	likely benign\|uncertain significance\|not provided	8	24952950	24952950	Human	1	name
26888237	CV834550	single nucleotide variant	NM_006158.5(NEFL):c.1612G>A (p.Ala538Thr)	Charcot-Marie-Tooth disease type 2E [RCV001046141]	uncertain significance	8	24952830	24952830	Human	1	name
26888810	CV834552	single nucleotide variant	NM_006158.5(NEFL):c.1357G>A (p.Glu453Lys)	Charcot-Marie-Tooth disease type 2E [RCV001055974]\|not provided [RCV004761908]	uncertain significance	8	24953608	24953608	Human	1	name
26888882	CV834553	single nucleotide variant	NM_006158.5(NEFL):c.1351C>G (p.Gln451Glu)	Charcot-Marie-Tooth disease type 2E [RCV001057141]	uncertain significance	8	24953614	24953614	Human	1	name
26887728	CV834554	single nucleotide variant	NM_006158.5(NEFL):c.1325A>G (p.Tyr442Cys)	Charcot-Marie-Tooth disease type 2E [RCV001036442]	uncertain significance	8	24953640	24953640	Human	1	name
26888115	CV834556	single nucleotide variant	NM_006158.5(NEFL):c.1100G>A (p.Arg367Gln)	Charcot-Marie-Tooth disease type 2E [RCV001044425]	uncertain significance	8	24954250	24954250	Human	1	name
26888244	CV834557	single nucleotide variant	NM_006158.5(NEFL):c.1027G>A (p.Asp343Asn)	Charcot-Marie-Tooth disease type 2E [RCV001046341]	uncertain significance	8	24955489	24955489	Human	1	name
8632951	CV88166	single nucleotide variant	NM_006158.4(NEFL):c.1534G>A (p.Gly512Ser)	Malignant melanoma [RCV000068258]	not provided	8	24952908	24952908	Human		name
28872542	CV899368	single nucleotide variant	NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)	Charcot-Marie-Tooth disease type 1F [RCV001164444]\|Charcot-Marie-Tooth disease type 2E [RCV001882527]\|Inborn genetic diseases [RCV002393376]	likely benign\|uncertain significance	8	24953557	24953557	Human	3	name
28907408	CV899369	single nucleotide variant	NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)	Charcot-Marie-Tooth disease type 1F [RCV001159512]\|Charcot-Marie-Tooth disease type 2E [RCV001207087]\|Inborn genetic diseases [RCV002379661]	likely benign\|uncertain significance	8	24953650	24953650	Human	3	name
34889634	CV905218	single nucleotide variant	NM_006158.5(NEFL):c.1276G>A (p.Gly426Ser)	Charcot-Marie-Tooth disease [RCV001172736]\|Charcot-Marie-Tooth disease type 2E [RCV001343717]	uncertain significance	8	24953689	24953689	Human	2	name
34889783	CV905219	single nucleotide variant	NM_006158.5(NEFL):c.1245C>G (p.Ser415Arg)	Charcot-Marie-Tooth disease [RCV001173043]\|Charcot-Marie-Tooth disease type 2E [RCV005056986]	uncertain significance	8	24953720	24953720	Human	2	name
34889635	CV905220	single nucleotide variant	NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)	Charcot-Marie-Tooth disease [RCV001172737]\|Charcot-Marie-Tooth disease type 2E [RCV001873600]\|not provided [RCV001664725]	uncertain significance	8	24953769	24953769	Human	2	name
34889640	CV905221	single nucleotide variant	NM_006158.5(NEFL):c.1193C>A (p.Thr398Asn)	Charcot-Marie-Tooth disease [RCV001172742]	uncertain significance	8	24953772	24953772	Human	1	name
34889780	CV905222	single nucleotide variant	NM_006158.5(NEFL):c.1123C>T (p.Leu375Phe)	Charcot-Marie-Tooth disease [RCV001173039]\|Charcot-Marie-Tooth disease type 2E [RCV005093732]	uncertain significance	8	24954227	24954227	Human	2	name
38488500	CV925144	single nucleotide variant	NM_006158.5(NEFL):c.1559C>T (p.Thr520Ile)	Charcot-Marie-Tooth disease type 2E [RCV001221258]\|Inborn genetic diseases [RCV002402674]	uncertain significance	8	24952883	24952883	Human	2	name
38485773	CV925146	single nucleotide variant	NM_006158.5(NEFL):c.1347G>C (p.Glu449Asp)	Charcot-Marie-Tooth disease type 2E [RCV001219999]	uncertain significance	8	24953618	24953618	Human	1	name
38487944	CV934233	single nucleotide variant	NM_006158.5(NEFL):c.1029C>G (p.Asp343Glu)	Charcot-Marie-Tooth disease type 2E [RCV001209530]\|not provided [RCV001806046]	uncertain significance	8	24955487	24955487	Human	1	name
38488338	CV946000	single nucleotide variant	NM_006158.5(NEFL):c.1459G>T (p.Glu487Ter)	Charcot-Marie-Tooth disease type 2E [RCV001237944]	uncertain significance	8	24953506	24953506	Human	1	name
38496363	CV946001	single nucleotide variant	NM_006158.5(NEFL):c.1145T>C (p.Leu382Ser)	Charcot-Marie-Tooth disease type 2E [RCV001226346]	uncertain significance	8	24954205	24954205	Human	1	name
38474091	CV946002	single nucleotide variant	NM_006158.5(NEFL):c.1049C>T (p.Thr350Met)	Charcot-Marie-Tooth disease type 2E [RCV001231942]	uncertain significance	8	24954301	24954301	Human	1	name
41405469	CV981618	single nucleotide variant	NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly)	Charcot-Marie-Tooth disease type 2E [RCV005094335]\|not provided [RCV001813009]	uncertain significance	8	24952940	24952940	Human	1	name
41406284	CV982694	single nucleotide variant	NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp)	not provided [RCV001288256]	uncertain significance	8	24952888	24952888	Human		name
126734086	CV992723	single nucleotide variant	NM_006158.5(NEFL):c.1265C>T (p.Ser422Phe)	Charcot-Marie-Tooth disease type 2E [RCV001295755]\|not provided [RCV001751560]	uncertain significance	8	24953700	24953700	Human	1	name
126745691	CV1028467	microsatellite	NM_006158.5(NEFL):c.898GCC[1] (p.Ala301del)	Charcot-Marie-Tooth disease type 2E [RCV001351429]	uncertain significance	8	24955613	24955615	Human		name
155918312	CV1981069	deletion	NM_006158.5(NEFL):c.799_803del (p.Lys267fs)	Charcot-Marie-Tooth disease type 2E [RCV002614426]	pathogenic	8	24955713	24955717	Human	1	name
404994183	CV3176527	deletion	NM_006158.5(NEFL):c.865_871del (p.Glu289fs)	Charcot-Marie-Tooth disease type 2E [RCV003881959]	pathogenic	8	24955645	24955651	Human	1	name
126736225	CV1007949	microsatellite	NM_006158.5(NEFL):c.1544AAG[1] (p.Glu516del)	Charcot-Marie-Tooth disease type 2E [RCV001327016]	uncertain significance	8	24952893	24952895	Human		name
151740860	CV1500959	microsatellite	NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup)	Charcot-Marie-Tooth disease type 2E [RCV001985230]	uncertain significance	8	24952910	24952911	Human		name
13483268	CV441226	microsatellite	NM_006158.5(NEFL):c.1324TAC[1] (p.Tyr443del)	Charcot-Marie-Tooth disease type 2E [RCV000701661]\|not specified [RCV000518110]	uncertain significance	8	24953636	24953638	Human		name
8622556	CV77578	microsatellite	NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)	Charcot-Marie-Tooth disease type 1F [RCV000015076]\|Charcot-Marie-Tooth disease type 2E [RCV001080241]\|not provided [RCV000057123]\|not specified [RCV000481083]	pathogenic\|benign\|not provided	8	24952861	24952863	Human		name
34889642	CV905225	microsatellite	NM_006158.5(NEFL):c.1008GGA[1] (p.Glu337del)	Charcot-Marie-Tooth disease [RCV001172743]	uncertain significance	8	24955503	24955505	Human		name
34889630	CV905227	insertion	NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)	Charcot-Marie-Tooth disease [RCV001172731]	likely pathogenic	8	24955522	24955523	Human	1	name
38482202	CV925145	microsatellite	NM_006158.5(NEFL):c.1517AAG[4] (p.Glu510del)	Charcot-Marie-Tooth disease type 2E [RCV001218356]\|Inborn genetic diseases [RCV002402654]	uncertain significance	8	24952911	24952913	Human		name
151832377	CV1370298	deletion	NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs)	Charcot-Marie-Tooth disease type 2E [RCV001993835]	pathogenic\|uncertain significance	8	24953647	24953764	Human	1	name
156360610	CV1908514	microsatellite	NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs)	Charcot-Marie-Tooth disease type 2E [RCV002602467]\|not provided [RCV004775298]	uncertain significance	8	24952939	24952940	Human		name
8564006	CV29069	indel	NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)	Charcot-Marie-Tooth disease type 1F [RCV000015075]\|Charcot-Marie-Tooth disease type 2E [RCV000015074]\|not provided [RCV000057129]	pathogenic\|not provided	8	24956493	24956494	Human		name
34889623	CV905224	deletion	NM_006158.5(NEFL):c.1039_1040del (p.Met347fs)	Charcot-Marie-Tooth disease [RCV001172728]	pathogenic	8	24955476	24955477	Human	1	name
151786267	CV1348895	deletion	NM_006158.5(NEFL):c.1441_1443del (p.Lys481del)	Charcot-Marie-Tooth disease type 2E [RCV001897722]\|Inborn genetic diseases [RCV002388767]	uncertain significance	8	24953522	24953524	Human	2	name
598217470	CV3891510	deletion	NM_006158.5(NEFL):c.1176_1178del (p.Leu393del)	Charcot-Marie-Tooth disease type 2E [RCV005252352]	uncertain significance	8	24953787	24953789	Human	1	name
38459762	CV919147	deletion	NM_006158.5(NEFL):c.1027_1029del (p.Asp343del)	Charcot-Marie-Tooth disease type 1F [RCV001196092]	uncertain significance	8	24955487	24955489	Human	1	name
156285011	CV2043076	deletion	NM_006158.5(NEFL):c.74_88del (p.His25_Val29del)	Charcot-Marie-Tooth disease type 2E [RCV002770526]	uncertain significance	8	24956428	24956442	Human	1	name
597674371	CV3730698	indel	NM_006158.5(NEFL):c.161_162delinsTT (p.Arg54Leu)	not provided [RCV004997584]	uncertain significance	8	24956354	24956355	Human		name
150490911	CV1155949	variation	NM_006158.5(NEFL):c.1408_1413= (p.Pro470_Pro471=)	not specified [RCV001700941]	benign	8	24953552	24953557	Human		name
156025784	CV2078075	deletion	NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del)	Charcot-Marie-Tooth disease type 2E [RCV002866830]	uncertain significance	8	24956230	24956241	Human	1	name
13482995	CV458664	indel	NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)	Charcot-Marie-Tooth disease [RCV001172740]\|Charcot-Marie-Tooth disease type 1F [RCV005049598]\|Charcot-Marie-Tooth disease type 2E [RCV001081472]\|Inborn genetic diseases [RCV000624055]\|not provided [RCV000712412]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	8	24956177	24956178	Human		name
14393756	CV609689	indel	NM_006158.5(NEFL):c.1407_1408delinsA (p.Ser472fs)	not provided [RCV000756414]	benign	8	24953557	24953558	Human		name
15112810	CV683998	variation	NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=)	Charcot-Marie-Tooth disease type 2E [RCV000860129]	benign	8	24953551	24953552	Human		name
155920865	CV2148394	deletion	NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer)	Charcot-Marie-Tooth disease type 2E [RCV003013181]	pathogenic	8	24953693	24953693	Human	1	name
156319197	CV2155276	deletion	NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del)	Charcot-Marie-Tooth disease type 2E [RCV003011579]	uncertain significance	8	24955520	24956041	Human	1	name
405044095	CV2995590	deletion	NM_006158.5(NEFL):c.940_945del (p.Ala314_Lys315del)	Charcot-Marie-Tooth disease type 2E [RCV003630641]	uncertain significance	8	24955571	24955576	Human	1	name
13469645	CV441225	indel	NM_006158.5(NEFL):c.1471_1472delinsTT (p.Ala491Leu)	Charcot-Marie-Tooth disease type 2E [RCV003766930]\|not specified [RCV000516180]	uncertain significance	8	24953493	24953494	Human		name
8622574	CV77596	deletion	NM_006158.5(NEFL):c.963_977del (p.Cys322_Asn326del)	not provided [RCV000057149]	not provided	8	24955539	24955553	Human		name
126734905	CV999996	duplication	NM_006158.5(NEFL):c.943_948dup (p.Lys315_Thr316dup)	Charcot-Marie-Tooth disease, dominant intermediate G [RCV001310256]	uncertain significance	8	24955567	24955568	Human	1	name
14738482	CV637025	indel	NM_006158.5(NEFL):c.1438_1440delinsAGA (p.Glu480Arg)	Charcot-Marie-Tooth disease type 2E [RCV000820944]	uncertain significance	8	24953525	24953527	Human		name
14702040	CV637033	duplication	NM_006158.5(NEFL):c.990_1013dup (p.Glu330_Glu337dup)	Charcot-Marie-Tooth disease type 2E [RCV000806705]	uncertain significance	8	24955502	24955503	Human	1	name
34889627	CV905226	indel	NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)	Charcot-Marie-Tooth disease [RCV001172730]	likely pathogenic	8	24955512	24955517	Human		name
26889107	CV834551	duplication	NM_006158.5(NEFL):c.1532_1537dup (p.Gly511_Gly512dup)	Charcot-Marie-Tooth disease type 2E [RCV001060849]	uncertain significance	8	24952904	24952905	Human	1	name
155664352	CV1786515	duplication	NM_006158.5(NEFL):c.370_372dup (p.Val124_Leu125insVal)	Inborn genetic diseases [RCV002348924]	uncertain significance	8	24956143	24956144	Human	1	name
151847540	CV1445471	indel	NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer)	Charcot-Marie-Tooth disease type 2E [RCV001995536]	uncertain significance	8	24956452	24956454	Human		name
597914416	CV3778880	duplication	NM_006158.5(NEFL):c.600_623dup (p.Ala207_Glu208insAspGluAlaAlaLeuAlaArgAla)	Charcot-Marie-Tooth disease type 2E [RCV005129225]	uncertain significance	8	24955892	24955893	Human	1	name

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