Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs1060499999
rs1060499999
SBF2 ; SBF2-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1198337036
rs1198337036
SH3TC2
T 0.700 GeneticVariation CLINVAR

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

2013
dbSNP: rs1555060614
rs1555060614
MTMR2
T 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647

2000
dbSNP: rs1555061026
rs1555061026
MTMR2
C 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647

2000
dbSNP: rs1561770798
rs1561770798
SH3TC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1565351898
rs1565351898
MTMR2
G 0.700 GeneticVariation CLINVAR Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. 10802647

2000
dbSNP: rs1569512576
rs1569512576
SBF1
T 0.700 GeneticVariation CLINVAR

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: rs752649372
rs752649372
SBF2
C 0.700 GeneticVariation CLINVAR Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 12687498

2003
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 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: rs773554464
rs773554464
SH3TC2
G 0.700 GeneticVariation CLINVAR Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. 20220177

2010
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR High frequency of SH3TC2 mutations in Czech HMSN I patients. 21291453

2011
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: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. 14574644

2003
dbSNP: rs80338926
rs80338926
SH3TC2
A 0.700 GeneticVariation CLINVAR Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. 16924012

2006
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
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