ClinVar Miner

List of variants in gene NEFL reported as pathogenic for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (15):

Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E; Dejerine-Sottas disease
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease, type IA
Guillain-Barre syndrome, familial; Hereditary liability to pressure palsies; Roussy-Lévy syndrome; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA; Dejerine-Sottas disease
Hereditary liability to pressure palsies; Charcot-Marie-Tooth disease type 1E; Charcot-Marie-Tooth disease, type IA

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)	rs1429859627
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del)	rs3832558
NM_006158.5(NEFL):c.18C>G (p.Tyr6Ter)	rs2117256073
NM_006158.5(NEFL):c.22_23delinsAG (p.Pro8Arg)	rs60261494
NM_006158.5(NEFL):c.262A>C (p.Thr88Pro)	rs2117255599
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	rs58982919
NM_006158.5(NEFL):c.418G>T (p.Glu140Ter)	rs121913663
NM_006158.5(NEFL):c.628G>T (p.Glu210Ter)	rs199422214
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	rs28928910

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