Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.710 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.710 CausalMutation CLINVAR Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations. 19272779

2009
dbSNP: rs80338933
rs80338933
SH3TC2
0.710 GeneticVariation BEFREE Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations. 19272779

2009
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.710 CausalMutation CLINVAR Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. 18511281

2008
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.710 CausalMutation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
dbSNP: rs80338933
rs80338933
SH3TC2
A 0.710 CausalMutation CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644

2003