ClinVar for MedGen (Select 375127) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24302711.	NM_006158.5(NEFL):c.259C>T (p.Arg87Cys) GRCh37: Chr8:24813771 GRCh38: Chr8:24956257	NEFL	R87C	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jan 19, 2023)	criteria provided, single submitter
Select item 24255172.	NC_000008.10:g.(?_24810323)_(24811839_?)del GRCh37: Chr8:24810323-24811839	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 24255163.	NC_000008.10:g.(?_24810323)_(25892142_?)del GRCh37: Chr8:24810323-25892142	CDCA2, DOCK5, EBF2, GNRH1, KCTD9, NEFL		Charcot-Marie-Tooth disease type 2E	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 22296174.	NM_006158.5(NEFL):c.581A>G (p.Glu194Gly) GRCh37: Chr8:24813449 GRCh38: Chr8:24955935	NEFL	E194G	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Nov 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21997255.	NM_006158.5(NEFL):c.1044+15G>C GRCh37: Chr8:24812971 GRCh38: Chr8:24955457	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 21931906.	NM_006158.5(NEFL):c.958G>A (p.Glu320Lys) GRCh37: Chr8:24813072 GRCh38: Chr8:24955558	NEFL	E320K	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 21887617.	NM_006158.5(NEFL):c.1044+2T>G GRCh37: Chr8:24812984 GRCh38: Chr8:24955470	NEFL		Charcot-Marie-Tooth disease type 2E	Likely pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 21778658.	NM_006158.5(NEFL):c.491G>A (p.Arg164His) GRCh37: Chr8:24813539 GRCh38: Chr8:24956025	NEFL	R164H	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 21768839.	NM_006158.5(NEFL):c.193A>G (p.Met65Val) GRCh37: Chr8:24813837 GRCh38: Chr8:24956323	NEFL	M65V	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 217585710.	NM_006158.5(NEFL):c.1502_1503del (p.Glu501fs) GRCh37: Chr8:24810452-24810453 GRCh38: Chr8:24952939-24952940	NEFL	E501fs	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 215488811.	NM_006158.5(NEFL):c.263C>A (p.Thr88Lys) GRCh37: Chr8:24813767 GRCh38: Chr8:24956253	NEFL	T88K	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 215462512.	NM_006158.5(NEFL):c.918C>T (p.Ser306=) GRCh37: Chr8:24813112 GRCh38: Chr8:24955598	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 215434013.	NM_006158.5(NEFL):c.494A>C (p.Glu165Ala) GRCh37: Chr8:24813536 GRCh38: Chr8:24956022	NEFL	E165A	Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214318514.	NM_006158.5(NEFL):c.873C>A (p.Ala291=) GRCh37: Chr8:24813157 GRCh38: Chr8:24955643	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 213950615.	NM_006158.5(NEFL):c.104C>T (p.Thr35Ile) GRCh37: Chr8:24813926 GRCh38: Chr8:24956412	NEFL	T35I	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 213665116.	NM_006158.5(NEFL):c.1166A>G (p.Tyr389Cys) GRCh37: Chr8:24811698 GRCh38: Chr8:24954184	LOC126860330, NEFL	Y389C	Charcot-Marie-Tooth disease type 2E	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 212990417.	NM_006158.5(NEFL):c.1248C>T (p.Ser416=) GRCh37: Chr8:24811231 GRCh38: Chr8:24953717	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212493718.	NM_006158.5(NEFL):c.551G>A (p.Ser184Asn) GRCh37: Chr8:24813479 GRCh38: Chr8:24955965	NEFL	S184N	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212106119.	NM_006158.5(NEFL):c.1128C>A (p.Leu376=) GRCh37: Chr8:24811736 GRCh38: Chr8:24954222	LOC126860330, NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 211992220.	NM_006158.5(NEFL):c.935T>C (p.Leu312Pro) GRCh37: Chr8:24813095 GRCh38: Chr8:24955581	NEFL	L312P	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 211510521.	NM_006158.5(NEFL):c.1125C>T (p.Leu375=) GRCh37: Chr8:24811739 GRCh38: Chr8:24954225	LOC126860330, NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 210935222.	NM_006158.5(NEFL):c.789G>A (p.Ala263=) GRCh37: Chr8:24813241 GRCh38: Chr8:24955727	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 210348323.	NM_006158.5(NEFL):c.867G>C (p.Glu289Asp) GRCh37: Chr8:24813163 GRCh38: Chr8:24955649	NEFL	E289D	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210320724.	NM_006158.5(NEFL):c.200G>A (p.Ser67Asn) GRCh37: Chr8:24813830 GRCh38: Chr8:24956316	NEFL	S67N	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 210299325.	NM_006158.5(NEFL):c.1009G>C (p.Glu337Gln) GRCh37: Chr8:24813021 GRCh38: Chr8:24955507	NEFL	E337Q	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 210127126.	NM_006158.5(NEFL):c.531C>T (p.Arg177=) GRCh37: Chr8:24813499 GRCh38: Chr8:24955985	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209721027.	NM_006158.5(NEFL):c.1127T>C (p.Leu376Pro) GRCh37: Chr8:24811737 GRCh38: Chr8:24954223	LOC126860330, NEFL	L376P	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 209059028.	NM_006158.5(NEFL):c.1272del (p.Ala423_Tyr424insTer) GRCh37: Chr8:24811207 GRCh38: Chr8:24953693	NEFL		Charcot-Marie-Tooth disease type 2E	Pathogenic (Mar 9, 2022)	criteria provided, single submitter
Select item 208831829.	NM_006158.5(NEFL):c.475_996del (p.Ala159_Gln332del) GRCh37: Chr8:24813034-24813555 GRCh38: Chr8:24955520-24956041	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 207465530.	NM_006158.5(NEFL):c.126C>G (p.Ser42Arg) GRCh37: Chr8:24813904 GRCh38: Chr8:24956390	NEFL	S42R	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 206783531.	NM_006158.5(NEFL):c.793T>A (p.Tyr265Asn) GRCh37: Chr8:24813237 GRCh38: Chr8:24955723	NEFL	Y265N	Charcot-Marie-Tooth disease type 2E	Likely pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 206469932.	NM_006158.5(NEFL):c.105C>T (p.Thr35=) GRCh37: Chr8:24813925 GRCh38: Chr8:24956411	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 206014833.	NM_006158.5(NEFL):c.1386G>A (p.Lys462=) GRCh37: Chr8:24811093 GRCh38: Chr8:24953579	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 205331334.	NM_006158.5(NEFL):c.489G>A (p.Glu163=) GRCh37: Chr8:24813541 GRCh38: Chr8:24956027	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 202786435.	NM_006158.5(NEFL):c.275_286del (p.Ala92_Gln95del) GRCh37: Chr8:24813744-24813755 GRCh38: Chr8:24956230-24956241	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 202172636.	NM_006158.5(NEFL):c.705G>A (p.Gln235=) GRCh37: Chr8:24813325 GRCh38: Chr8:24955811	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 201505337.	NM_006158.5(NEFL):c.1136A>C (p.Lys379Thr) GRCh37: Chr8:24811728 GRCh38: Chr8:24954214	LOC126860330, NEFL	K379T	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 199502738.	NM_006158.5(NEFL):c.648G>A (p.Leu216=) GRCh37: Chr8:24813382 GRCh38: Chr8:24955868	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199301539.	NM_006158.5(NEFL):c.767C>G (p.Ala256Gly) GRCh37: Chr8:24813263 GRCh38: Chr8:24955749	NEFL	A256G	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 199232440.	NM_006158.5(NEFL):c.1181A>G (p.Glu394Gly) GRCh37: Chr8:24811298 GRCh38: Chr8:24953784	NEFL	E394G	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Dec 5, 2022)	criteria provided, single submitter
Select item 198436341.	NM_006158.4(NEFL):c.1414= GRCh37: Chr8:24811065	NEFL		Charcot-Marie-Tooth disease type 2E	Pathogenic (Dec 15, 2021)	criteria provided, single submitter
Select item 198429842.	NM_006158.5(NEFL):c.738G>A (p.Glu246=) GRCh37: Chr8:24813292 GRCh38: Chr8:24955778	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 198392143.	NM_006158.5(NEFL):c.74_88del (p.His25_Val29del) GRCh37: Chr8:24813942-24813956 GRCh38: Chr8:24956428-24956442	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 198292144.	NM_006158.5(NEFL):c.78C>A (p.Ile26=) GRCh37: Chr8:24813952 GRCh38: Chr8:24956438	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 197353945.	NM_006158.5(NEFL):c.832del (p.Glu278fs) GRCh37: Chr8:24813198 GRCh38: Chr8:24955684	NEFL	E278fs	Charcot-Marie-Tooth disease type 2E	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 195234246.	NM_006158.5(NEFL):c.649A>C (p.Met217Leu) GRCh37: Chr8:24813381 GRCh38: Chr8:24955867	NEFL	M217L	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 194359447.	NM_006158.5(NEFL):c.1326C>T (p.Tyr442=) GRCh37: Chr8:24811153 GRCh38: Chr8:24953639	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 193955948.	NM_006158.5(NEFL):c.1412C>G (p.Pro471Arg) GRCh37: Chr8:24811067 GRCh38: Chr8:24953553	NEFL	P471R	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 1, 2022)	criteria provided, single submitter
Select item 193286049.	NM_006158.5(NEFL):c.709C>G (p.Gln237Glu) GRCh37: Chr8:24813321 GRCh38: Chr8:24955807	NEFL	Q237E	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 193247150.	NM_006158.5(NEFL):c.940G>A (p.Ala314Thr) GRCh37: Chr8:24813090 GRCh38: Chr8:24955576	NEFL	A314T	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 192821951.	NM_006158.5(NEFL):c.799_803del (p.Lys267fs) GRCh37: Chr8:24813227-24813231 GRCh38: Chr8:24955713-24955717	NEFL	K267fs	Charcot-Marie-Tooth disease type 2E	Pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 190968752.	NM_006158.5(NEFL):c.985C>G (p.Leu329Val) GRCh37: Chr8:24813045 GRCh38: Chr8:24955531	NEFL	L329V	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 189586153.	NM_006158.5(NEFL):c.1077G>C (p.Arg359Ser) GRCh37: Chr8:24811787 GRCh38: Chr8:24954273	LOC126860330, NEFL	R359S	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 180690854.	NM_006158.5(NEFL):c.66C>T (p.Pro22=) GRCh37: Chr8:24813964 GRCh38: Chr8:24956450	NEFL		Charcot-Marie-Tooth disease type 2E, not provided	Conflicting interpretations of pathogenicity (Jul 14, 2022)	criteria provided, conflicting interpretations
Select item 180690555.	NM_006158.5(NEFL):c.604G>A (p.Ala202Thr) GRCh37: Chr8:24813426 GRCh38: Chr8:24955912	NEFL	A202T	not provided, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175456456.	NM_006158.5(NEFL):c.662C>T (p.Ser221Phe) GRCh37: Chr8:24813368 GRCh38: Chr8:24955854	NEFL	S221F	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175077657.	NM_006158.5(NEFL):c.596C>T (p.Ala199Val) GRCh37: Chr8:24813434 GRCh38: Chr8:24955920	NEFL	A199V	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172177558.	NM_006158.5(NEFL):c.229G>C (p.Ala77Pro) GRCh37: Chr8:24813801 GRCh38: Chr8:24956287	NEFL	A77P	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 171834659.	NM_006158.5(NEFL):c.1153G>C (p.Glu385Gln) GRCh37: Chr8:24811711 GRCh38: Chr8:24954197	LOC126860330, NEFL	E385Q	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171735260.	NM_006158.5(NEFL):c.134C>T (p.Ala45Val) GRCh37: Chr8:24813896 GRCh38: Chr8:24956382	NEFL	A45V	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 171475761.	NM_006158.5(NEFL):c.316G>A (p.Glu106Lys) GRCh37: Chr8:24813714 GRCh38: Chr8:24956200	NEFL	E106K	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 168596962.	NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter) GRCh37: Chr8:24813976 GRCh38: Chr8:24956462	NEFL	Y18*	Charcot-Marie-Tooth disease type 2E	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 168596863.	NM_006158.5(NEFL):c.506dup (p.Thr170fs) GRCh37: Chr8:24813523-24813524 GRCh38: Chr8:24956009-24956010	NEFL	T170fs	Charcot-Marie-Tooth disease type 2E	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 165011964.	NM_006158.5(NEFL):c.1044+16A>G GRCh37: Chr8:24812970 GRCh38: Chr8:24955456	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 164643365.	NM_006158.5(NEFL):c.264G>A (p.Thr88=) GRCh37: Chr8:24813766 GRCh38: Chr8:24956252	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Dec 29, 2020)	criteria provided, single submitter
Select item 163653566.	NM_006158.5(NEFL):c.1059A>G (p.Lys353=) GRCh37: Chr8:24811805 GRCh38: Chr8:24954291	LOC126860330, NEFL		Charcot-Marie-Tooth disease type 2E	Benign (Jun 1, 2021)	criteria provided, single submitter
Select item 163304767.	NM_006158.5(NEFL):c.777G>A (p.Lys259=) GRCh37: Chr8:24813253 GRCh38: Chr8:24955739	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 162933168.	NM_006158.5(NEFL):c.1045-17T>A GRCh37: Chr8:24811836 GRCh38: Chr8:24954322	LOC126860330, NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 162656469.	NM_006158.5(NEFL):c.219G>A (p.Leu73=) GRCh37: Chr8:24813811 GRCh38: Chr8:24956297	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 160235270.	NM_006158.5(NEFL):c.174C>T (p.Ser58=) GRCh37: Chr8:24813856 GRCh38: Chr8:24956342	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 159159771.	NM_006158.5(NEFL):c.63G>T (p.Thr21=) GRCh37: Chr8:24813967 GRCh38: Chr8:24956453	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 158698772.	NM_006158.5(NEFL):c.231C>G (p.Ala77=) GRCh37: Chr8:24813799 GRCh38: Chr8:24956285	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158671573.	NM_006158.5(NEFL):c.1169+8T>C GRCh37: Chr8:24811687 GRCh38: Chr8:24954173	LOC126860330, NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 157464874.	NM_006158.5(NEFL):c.1380T>C (p.Ala460=) GRCh37: Chr8:24811099 GRCh38: Chr8:24953585	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Nov 10, 2021)	criteria provided, single submitter
Select item 156212475.	NM_006158.5(NEFL):c.936C>T (p.Leu312=) GRCh37: Chr8:24813094 GRCh38: Chr8:24955580	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (May 21, 2021)	criteria provided, single submitter
Select item 155689976.	NM_006158.5(NEFL):c.1044+19C>T GRCh37: Chr8:24812967 GRCh38: Chr8:24955453	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 152047177.	NM_006158.5(NEFL):c.1309C>T (p.Arg437Cys) GRCh37: Chr8:24811170 GRCh38: Chr8:24953656	NEFL	R437C	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151748178.	NM_006158.5(NEFL):c.1310G>A (p.Arg437His) GRCh37: Chr8:24811169 GRCh38: Chr8:24953655	NEFL	R437H	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151617579.	NM_006158.5(NEFL):c.1512A>T (p.Glu504Asp) GRCh37: Chr8:24810443 GRCh38: Chr8:24952930	NEFL	E504D	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 151373880.	NM_006158.5(NEFL):c.690G>C (p.Glu230Asp) GRCh37: Chr8:24813340 GRCh38: Chr8:24955826	NEFL	E230D	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Feb 27, 2021)	criteria provided, single submitter
Select item 150207681.	NM_006158.5(NEFL):c.1171A>G (p.Lys391Glu) GRCh37: Chr8:24811308 GRCh38: Chr8:24953794	NEFL	K391E	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jan 12, 2021)	criteria provided, single submitter
Select item 149873582.	NM_006158.5(NEFL):c.1157T>G (p.Ile386Ser) GRCh37: Chr8:24811707 GRCh38: Chr8:24954193	LOC126860330, NEFL	I386S	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 11, 2021)	criteria provided, single submitter
Select item 149718683.	NM_006158.5(NEFL):c.925C>T (p.Arg309Cys) GRCh37: Chr8:24813105 GRCh38: Chr8:24955591	NEFL	R309C	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Nov 16, 2020)	criteria provided, single submitter
Select item 149346384.	NM_006158.5(NEFL):c.334G>A (p.Glu112Lys) GRCh37: Chr8:24813696 GRCh38: Chr8:24956182	NEFL	E112K	Charcot-Marie-Tooth disease type 2E	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 149311385.	NM_006158.5(NEFL):c.390C>G (p.Ser130=) GRCh37: Chr8:24813640 GRCh38: Chr8:24956126	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 149253986.	NM_006158.5(NEFL):c.1273G>A (p.Gly425Ser) GRCh37: Chr8:24811206 GRCh38: Chr8:24953692	NEFL	G425S	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Feb 7, 2021)	criteria provided, single submitter
Select item 148518987.	NM_006158.5(NEFL):c.820C>G (p.Gln274Glu) GRCh37: Chr8:24813210 GRCh38: Chr8:24955696	NEFL	Q274E	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 148223588.	NM_006158.5(NEFL):c.62_64delinsTTT (p.Thr21_Pro22delinsIleSer) GRCh37: Chr8:24813966-24813968 GRCh38: Chr8:24956452-24956454	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147324989.	NM_006158.5(NEFL):c.22C>G (p.Pro8Ala) GRCh37: Chr8:24814008 GRCh38: Chr8:24956494	NEFL	P8A	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 146985190.	NM_006158.5(NEFL):c.79T>C (p.Ser27Pro) GRCh37: Chr8:24813951 GRCh38: Chr8:24956437	NEFL	S27P	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 146918991.	NM_006158.5(NEFL):c.1201_1318del (p.Ser401fs) GRCh37: Chr8:24811161-24811278 GRCh38: Chr8:24953647-24953764	NEFL	S401fs	Charcot-Marie-Tooth disease type 2E	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 145924292.	NM_006158.5(NEFL):c.834A>G (p.Glu278=) GRCh37: Chr8:24813196 GRCh38: Chr8:24955682	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 145739693.	NM_006158.5(NEFL):c.876C>T (p.Ala292=) GRCh37: Chr8:24813154 GRCh38: Chr8:24955640	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Nov 19, 2021)	criteria provided, single submitter
Select item 144807894.	NM_006158.5(NEFL):c.484G>A (p.Gly162Ser) GRCh37: Chr8:24813546 GRCh38: Chr8:24956032	NEFL	G162S	Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144576695.	NM_006158.5(NEFL):c.1517AAG[6] (p.Glu510dup) GRCh37: Chr8:24810423-24810424 GRCh38: Chr8:24952910-24952911	NEFL		Charcot-Marie-Tooth disease type 2E	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 144205896.	NM_006158.5(NEFL):c.797A>T (p.Glu266Val) GRCh37: Chr8:24813233 GRCh38: Chr8:24955719	NEFL	E266V	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 143765597.	NM_006158.5(NEFL):c.795C>G (p.Tyr265Ter) GRCh37: Chr8:24813235 GRCh38: Chr8:24955721	NEFL	Y265*	Charcot-Marie-Tooth disease type 2E	Pathogenic (Feb 18, 2021)	criteria provided, single submitter
Select item 143669598.	NM_006158.5(NEFL):c.1529A>G (p.Glu510Gly) GRCh37: Chr8:24810426 GRCh38: Chr8:24952913	NEFL	E510G	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 143069899.	NM_006158.5(NEFL):c.1595G>A (p.Gly532Asp) GRCh37: Chr8:24810360 GRCh38: Chr8:24952847	NEFL	G532D	Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1426322100.	NM_006158.5(NEFL):c.1458C>G (p.Ala486=) GRCh37: Chr8:24811020 GRCh38: Chr8:24953507	NEFL		Charcot-Marie-Tooth disease type 2E	Likely benign (Aug 24, 2021)	criteria provided, single submitter

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