ClinVar for MedGen (Select 334337) - ClinVar

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Items: 62

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25856061.	NM_006158.5(NEFL):c.311T>G (p.Phe104Cys) GRCh37: Chr8:24813719 GRCh38: Chr8:24956205	NEFL	F104C	Charcot-Marie-Tooth disease type 1F	Uncertain significance	criteria provided, single submitter
Select item 14123262.	NM_006158.5(NEFL):c.262A>C (p.Thr88Pro) GRCh37: Chr8:24813768 GRCh38: Chr8:24956254	NEFL	T88P	Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Conflicting interpretations of pathogenicity (Aug 19, 2021)	criteria provided, conflicting interpretations
Select item 13333203.	NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter) GRCh37: Chr8:24814012 GRCh38: Chr8:24956498	NEFL	Y6*	Charcot-Marie-Tooth disease type 1F	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 10485994.	NM_006158.5(NEFL):c.54C>A (p.Tyr18Ter) GRCh37: Chr8:24813976 GRCh38: Chr8:24956462	NEFL	Y18*	Charcot-Marie-Tooth disease type 1F	Likely pathogenic (Dec 1, 2020)	criteria provided, single submitter
Select item 9320215.	NM_006158.5(NEFL):c.73C>A (p.His25Asn) GRCh37: Chr8:24813957 GRCh38: Chr8:24956443	NEFL	H25N	Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jul 9, 2019)	criteria provided, single submitter
Select item 9304346.	NM_006158.5(NEFL):c.1027_1029del (p.Asp343del) GRCh37: Chr8:24813001-24813003 GRCh38: Chr8:24955487-24955489	NEFL	D343del	Charcot-Marie-Tooth disease type 1F	Uncertain significance (Apr 3, 2019)	criteria provided, single submitter
Select item 9118287.	NM_006158.4(NEFL):c.-258C>G GRCh37: Chr8:24814287 GRCh38: Chr8:24956773	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9117888.	NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser) GRCh37: Chr8:24811071 GRCh38: Chr8:24953557	NEFL	P470S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Conflicting interpretations of pathogenicity (Jul 28, 2021)	criteria provided, conflicting interpretations
Select item 9117169.	NM_006158.5(NEFL):c.*1101G>A GRCh37: Chr8:24809222 GRCh38: Chr8:24951709	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91171510.	NM_006158.5(NEFL):c.*1153T>G GRCh37: Chr8:24809170 GRCh38: Chr8:24951657	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91060311.	NM_006158.4(NEFL):c.-248C>G GRCh37: Chr8:24814277 GRCh38: Chr8:24956763	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91060212.	NM_006158.4(NEFL):c.-183C>G GRCh37: Chr8:24814212 GRCh38: Chr8:24956698	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 91060113.	NM_006158.5(NEFL):c.338A>C (p.Gln113Pro) GRCh37: Chr8:24813692 GRCh38: Chr8:24956178	NEFL	Q113P	Inborn genetic diseases, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1F	Conflicting interpretations of pathogenicity (Mar 10, 2023)	criteria provided, conflicting interpretations
Select item 91048414.	NM_006158.5(NEFL):c.*1293A>G GRCh37: Chr8:24809030 GRCh38: Chr8:24951517	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90967715.	NM_006158.5(NEFL):c.339G>C (p.Gln113His) GRCh37: Chr8:24813691 GRCh38: Chr8:24956177	NEFL	Q113H	Inborn genetic diseases, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Mar 9, 2022)	criteria provided, conflicting interpretations
Select item 90967616.	NM_006158.5(NEFL):c.516C>T (p.Arg172=) GRCh37: Chr8:24813514 GRCh38: Chr8:24956000	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90967517.	NM_006158.5(NEFL):c.540G>C (p.Glu180Asp) GRCh37: Chr8:24813490 GRCh38: Chr8:24955976	NEFL	E180D	Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90967418.	NM_006158.5(NEFL):c.558G>A (p.Glu186=) GRCh37: Chr8:24813472 GRCh38: Chr8:24955958	NEFL		Charcot-Marie-Tooth disease type 1F	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90967319.	NM_006158.5(NEFL):c.564C>G (p.Ala188=) GRCh37: Chr8:24813466 GRCh38: Chr8:24955952	NEFL		Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Conflicting interpretations of pathogenicity (Mar 12, 2022)	criteria provided, conflicting interpretations
Select item 90961520.	NM_006158.5(NEFL):c.*436T>G GRCh37: Chr8:24809887 GRCh38: Chr8:24952374	NEFL		Charcot-Marie-Tooth disease type 1F	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 90955721.	NM_006158.5(NEFL):c.*1383C>T GRCh37: Chr8:24808940 GRCh38: Chr8:24951427	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90955622.	NM_006158.5(NEFL):c.*1464A>G GRCh37: Chr8:24808859 GRCh38: Chr8:24951346	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90882223.	NM_006158.5(NEFL):c.717G>A (p.Gln239=) GRCh37: Chr8:24813313 GRCh38: Chr8:24955799	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90882124.	NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile) GRCh37: Chr8:24811164 GRCh38: Chr8:24953650	NEFL	F439I	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Conflicting interpretations of pathogenicity (Apr 28, 2022)	criteria provided, conflicting interpretations
Select item 67055525.	NM_006158.4(NEFL):c.-176C>A GRCh37: Chr8:24814205 GRCh38: Chr8:24956691	NEFL		not provided, Charcot-Marie-Tooth disease type 1F	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 44776326.	NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp) GRCh37: Chr8:24813237 GRCh38: Chr8:24955723	NEFL	Y265D	not provided, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G, Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2E	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44474227.	NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter) GRCh37: Chr8:24811284 GRCh38: Chr8:24953770	NEFL	R399*	not provided, Charcot-Marie-Tooth disease type 1F	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36264828.	NM_006158.5(NEFL):c.-68T>A GRCh37: Chr8:24814097 GRCh38: Chr8:24956583	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36264729.	NM_006158.5(NEFL):c.141G>A (p.Val47=) GRCh37: Chr8:24813889 GRCh38: Chr8:24956375	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36264630.	NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) GRCh37: Chr8:24811150 GRCh38: Chr8:24953636	NEFL		Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Inborn genetic diseases	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36264531.	NM_006158.5(NEFL):c.*51A>G GRCh37: Chr8:24810272 GRCh38: Chr8:24952759	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36264432.	NM_006158.5(NEFL):c.*82T>A GRCh37: Chr8:24810241 GRCh38: Chr8:24952728	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 36264333.	NM_006158.5(NEFL):c.*101A>G GRCh37: Chr8:24810222 GRCh38: Chr8:24952709	NEFL		Charcot-Marie-Tooth disease type 1F, not provided	Benign/Likely benign (Jun 29, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36264234.	NM_006158.5(NEFL):c.*171C>G GRCh37: Chr8:24810152 GRCh38: Chr8:24952639	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36264035.	NM_006158.5(NEFL):c.*244A>G GRCh37: Chr8:24810079 GRCh38: Chr8:24952566	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36263536.	NM_006158.5(NEFL):c.*486T>G GRCh37: Chr8:24809837 GRCh38: Chr8:24952324	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36263337.	NM_006158.5(NEFL):c.*577T>C GRCh37: Chr8:24809746 GRCh38: Chr8:24952233	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36263138.	NM_006158.5(NEFL):c.*856T>C GRCh37: Chr8:24809467 GRCh38: Chr8:24951954	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36263039.	NM_006158.5(NEFL):c.*878A>G GRCh37: Chr8:24809445 GRCh38: Chr8:24951932	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36262340.	NM_006158.5(NEFL):c.*1342A>G GRCh37: Chr8:24808981 GRCh38: Chr8:24951468	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36262141.	NM_006158.5(NEFL):c.*1344G>A GRCh37: Chr8:24808979 GRCh38: Chr8:24951466	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36262042.	NM_006158.5(NEFL):c.*1349T>G GRCh37: Chr8:24808974 GRCh38: Chr8:24951461	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36261943.	NM_006158.5(NEFL):c.*1482C>T GRCh37: Chr8:24808841 GRCh38: Chr8:24951328	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36261644.	NM_006158.5(NEFL):c.*1744T>C GRCh37: Chr8:24808579 GRCh38: Chr8:24951066	NEFL		Charcot-Marie-Tooth disease type 1F	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36261545.	NM_006158.5(NEFL):c.*1806T>C GRCh37: Chr8:24808517 GRCh38: Chr8:24951004	NEFL		Charcot-Marie-Tooth disease type 1F	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 23491346.	NM_006158.5(NEFL):c.986T>C (p.Leu329Pro) GRCh37: Chr8:24813044 GRCh38: Chr8:24955530	NEFL	L329P	not provided, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G	Uncertain significance (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 22020947.	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) GRCh37: Chr8:24810345 GRCh38: Chr8:24952832	NEFL	Q537R	Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease, dominant intermediate G, Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2E, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 21542948.	NM_006158.5(NEFL):c.1407G>A (p.Glu469=) GRCh37: Chr8:24811072 GRCh38: Chr8:24953558	NEFL		Charcot-Marie-Tooth disease, Inborn genetic diseases, not specified, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6669549.	NM_006158.5(NEFL):c.639C>G (p.Ile213Met) GRCh37: Chr8:24813391 GRCh38: Chr8:24955877	NEFL	I213M	not provided, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, not specified, Inborn genetic diseases, Charcot-Marie-Tooth disease	Conflicting interpretations of pathogenicity (Oct 1, 2023)	criteria provided, conflicting interpretations
Select item 6669350.	NM_006158.5(NEFL):c.45G>A (p.Lys15=) GRCh37: Chr8:24813985 GRCh38: Chr8:24956471	NEFL		Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E	Conflicting interpretations of pathogenicity (Jun 29, 2022)	criteria provided, conflicting interpretations
Select item 6668651.	NM_006158.5(NEFL):c.227T>C (p.Val76Ala) GRCh37: Chr8:24813803 GRCh38: Chr8:24956289	NEFL	V76A	Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6668152.	NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) GRCh37: Chr8:24810374-24810376 GRCh38: Chr8:24952861-24952863	NEFL	E527del	Charcot-Marie-Tooth disease type 2E, not specified	Benign (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6667653.	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) GRCh37: Chr8:24811077 GRCh38: Chr8:24953563	NEFL	D468N	Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, Inborn genetic diseases, not provided	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 6667354.	NM_006158.5(NEFL):c.1212C>T (p.Ser404=) GRCh37: Chr8:24811267 GRCh38: Chr8:24953753	NEFL		not provided, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, not specified	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4123955.	NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) GRCh37: Chr8:24813965 GRCh38: Chr8:24956451	NEFL	P22R	not provided, Charcot-Marie-Tooth disease type 1F	not provided	no assertion provided
Select item 4123856.	NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) GRCh37: Chr8:24813966 GRCh38: Chr8:24956452	NEFL	P22T	not provided, Charcot-Marie-Tooth disease type 1F	not provided	no assertion provided
Select item 4123757.	NM_006158.5(NEFL):c.446C>T (p.Ala149Val) GRCh37: Chr8:24813584 GRCh38: Chr8:24956070	NEFL	A149V	Charcot-Marie-Tooth disease type 2E	Uncertain significance (Apr 11, 2020)	criteria provided, single submitter
Select item 4123658.	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) GRCh37: Chr8:24813737 GRCh38: Chr8:24956223	NEFL	N98S	Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G, Sensorineural hearing impairment, Developmental disorder, Charcot-Marie-Tooth disease, not provided, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F	Pathogenic/Likely pathogenic (Aug 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 2980359.	NM_006158.5(NEFL):c.628G>T (p.Glu210Ter) GRCh37: Chr8:24813402 GRCh38: Chr8:24955888	NEFL	E210*	Charcot-Marie-Tooth disease type 1F	Pathogenic (Dec 1, 2009)	no assertion criteria provided
Select item 1403460.	NM_006158.5(NEFL):c.418G>T (p.Glu140Ter) GRCh37: Chr8:24813612 GRCh38: Chr8:24956098	NEFL	E140*	Charcot-Marie-Tooth disease type 1F	Pathogenic (Feb 1, 2009)	no assertion criteria provided
Select item 1403061.	NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg) GRCh37: Chr8:24814007-24814008 GRCh38: Chr8:24956493-24956494	NEFL	P8R	Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E	Pathogenic (Dec 15, 2007)	no assertion criteria provided
Select item 1402962.	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) GRCh37: Chr8:24813966 GRCh38: Chr8:24956452	NEFL	P22S	Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Peripheral neuropathy, Pes cavus, Distal lower limb muscle weakness, Peripheral neuropathy, Hand muscle atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Distal muscle weakness ...see more	Pathogenic/Likely pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts

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Items: 62