Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy. 26752306

2016
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647

2013
dbSNP: rs80338934
rs80338934
SH3TC2
0.710 GeneticVariation BEFREE The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. 17470135

2007
dbSNP: rs80338934
rs80338934
SH3TC2
A 0.710 CausalMutation CLINVAR A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. 16326826

2005
dbSNP: rs1554309093
rs1554309093
FIG4
T 0.700 CausalMutation CLINVAR Genetic heterogeneity of motor neuropathies. 28251916

2017
dbSNP: rs574861276
rs574861276
PRX
A 0.700 CausalMutation CLINVAR Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. 27862672

2017
dbSNP: rs863224454
rs863224454
SH3TC2
CT 0.700 CausalMutation CLINVAR Audiological Findings in Charcot-Marie-Tooth Disease Type 4C. 28555600

2017
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016
dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016
dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR The use of whole-exome sequencing to disentangle complex phenotypes. 26059842

2016
dbSNP: rs773554464
rs773554464
SH3TC2
G 0.700 GeneticVariation CLINVAR Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C. 27068304

2016
dbSNP: rs776221160
rs776221160
SH3TC2
T 0.700 CausalMutation CLINVAR Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4). 27231023

2016
dbSNP: rs1561765311
rs1561765311
SH3TC2
C 0.700 CausalMutation CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
dbSNP: rs80338931
rs80338931
SH3TC2
A 0.700 CausalMutation CLINVAR Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
dbSNP: rs80338931
rs80338931
SH3TC2
A 0.700 CausalMutation CLINVAR Phenotypic variability of CMT4C in a French-Canadian kindred. 25737037

2015
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. 24878229

2014
dbSNP: rs1554309093
rs1554309093
FIG4
T 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs1564872328
rs1564872328
SBF2 ; SBF2-AS1
T 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783

2014
dbSNP: rs752192677
rs752192677
PRX
C 0.700 CausalMutation CLINVAR The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy. 25614874

2014
dbSNP: rs752649372
rs752649372
SBF2
C 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families. 25873783

2014
dbSNP: rs1060503092
rs1060503092
NDRG1
T 0.700 CausalMutation CLINVAR Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 23996628

2013
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy. 23489662

2013
dbSNP: rs1554300952
rs1554300952
FIG4
G 0.700 GeneticVariation CLINVAR Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387

2013