Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750712213
rs750712213
FIG4
A 0.700 CausalMutation CLINVAR Novel FIG4 mutations in Yunis-Varon syndrome. 24088667

2013
dbSNP: rs80338930
rs80338930
SH3TC2
C 0.700 CausalMutation CLINVAR Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 23553667

2013
dbSNP: rs863224454
rs863224454
SH3TC2
CT 0.700 CausalMutation CLINVAR Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. 23553667

2013
dbSNP: rs863224454
rs863224454
SH3TC2
CT 0.700 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 4C in Japan: report of a case. 23281072

2013
dbSNP: rs104894715
rs104894715
PRX
A 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012
dbSNP: rs1301129751
rs1301129751
PRX
GA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012
dbSNP: rs1568704829
rs1568704829
PRX
CA 0.700 CausalMutation CLINVAR Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. 22847150

2012
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420

2011
dbSNP: rs764717219
rs764717219
FIG4
T 0.700 CausalMutation CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420

2011
dbSNP: rs772320287
rs772320287
FIG4
GA 0.700 CausalMutation CLINVAR Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. 21705420

2011
dbSNP: rs776221160
rs776221160
SH3TC2
T 0.700 CausalMutation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
dbSNP: rs80338930
rs80338930
SH3TC2
C 0.700 CausalMutation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
dbSNP: rs863224454
rs863224454
SH3TC2
CT 0.700 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs1554120331
rs1554120331
SH3TC2
A 0.700 GeneticVariation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs1554122560
rs1554122560
SH3TC2
T 0.700 GeneticVariation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs769410348
rs769410348
SH3TC2
T 0.700 GeneticVariation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs773554464
rs773554464
SH3TC2
G 0.700 GeneticVariation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs80338930
rs80338930
SH3TC2
C 0.700 CausalMutation CLINVAR SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. 20826437

2010
dbSNP: rs80338930
rs80338930
SH3TC2
C 0.700 CausalMutation CLINVAR Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. 20028792

2010
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956

2009
dbSNP: rs863224454
rs863224454
SH3TC2
CT 0.700 CausalMutation CLINVAR Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. 19744956

2009
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. 18556664

2008
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.700 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281

2008
dbSNP: rs121908287
rs121908287
FIG4
C 0.700 CausalMutation CLINVAR Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. 17572665

2007