ClinVar Miner

List of variants studied for intermediate Charcot-Marie-Tooth disease by Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo

Included ClinVar conditions (34):

Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease, axonal, type 2GG
Charcot-Marie-Tooth Disease, axonal, type 2GG; Charcot-Marie-Tooth disease, dominant intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Autosomal dominant Charcot-Marie-Tooth disease type 2K
Charcot-Marie-Tooth disease axonal type 2K; Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease dominant intermediate B
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Autosomal dominant Charcot-Marie-Tooth disease type 2M; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome
Charcot-Marie-Tooth disease dominant intermediate C
Charcot-Marie-Tooth disease dominant intermediate C; Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Charcot-Marie-Tooth disease dominant intermediate D
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate B
Charcot-Marie-Tooth disease recessive intermediate B; Autosomal recessive nonsyndromic hearing loss 89; Leukoencephalopathy, progressive, infantile-onset, with or without deafness; Deafness, congenital, and adult-onset progressive leukoencephalopathy
Charcot-Marie-Tooth disease recessive intermediate C
Charcot-Marie-Tooth disease recessive intermediate D
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 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 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 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Neuropathy, congenital hypomyelinating, 2
Charcot-Marie-Tooth disease type 2J
Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Dejerine-Sottas disease; Congenital hypomyelinating neuropathy
Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, dominant intermediate G
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile)	rs773192982	0.00009
NM_005548.3(KARS1):c.1520G>A (p.Arg507Gln)	rs752076127	0.00002
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met)	rs876661176
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)	rs1064793101

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.