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

2017
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: 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: 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