Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR The E117K mutation in β-tropomyosin disturbs concerted conformational changes of actomyosin in muscle fibers. 24657080

2014
dbSNP: rs104894129
rs104894129
TPM2
0.800 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. 23886664

2013
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation. 23689010

2013
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy. 22084935

2012
dbSNP: rs104894129
rs104894129
TPM2
0.800 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607

2003
dbSNP: rs104894129
rs104894129
TPM2
T 0.800 CausalMutation CLINVAR Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. 11738357

2002
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 30285720

2018
dbSNP: rs199476146
rs199476146
TPM2
A 0.700 CausalMutation CLINVAR Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083

2015
dbSNP: rs104894127
rs104894127
TPM2
0.700 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs199476151
rs199476151
TPM2
0.700 GeneticVariation UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096

2014
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. 23678273

2013
dbSNP: rs199476146
rs199476146
TPM2
A 0.700 CausalMutation CLINVAR Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. 23413262

2013
dbSNP: rs199476146
rs199476146
TPM2
A 0.700 CausalMutation CLINVAR K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. 23378224

2013
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. 17339586

2007
dbSNP: rs104894127
rs104894127
TPM2
0.700 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607

2003
dbSNP: rs137853305
rs137853305
TPM2
0.700 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607

2003
dbSNP: rs199476151
rs199476151
TPM2
0.700 GeneticVariation UNIPROT Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 12592607

2003
dbSNP: rs1554400286
rs1554400286
MET
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1554658995
rs1554658995
TPM2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567973091
rs1567973091
CNTNAP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs199476153
rs199476153
TPM2
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434638
rs121434638
TNNT3
0.010 GeneticVariation BEFREE The TNNT3 R63H recurrent mutation identified in two unrelated individuals may be associated with either DA1 or DA2B. 19142688

2009