Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358247
rs80358247
TPM3
0.710 GeneticVariation BEFREE Expression and biological activity of Baculovirus generated wild-type human slow alpha tropomyosin and the Met9Arg mutant responsible for a dominant form of nemaline myopathy. 12163017

2002
dbSNP: rs80358247
rs80358247
TPM3
C 0.710 CausalMutation CLINVAR

dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
T 0.700 GeneticVariation CLINVAR Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. 26809617

2016
dbSNP: rs191579691
rs191579691
NEB
A 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980

2016
dbSNP: rs201553266
rs201553266
NEB
T 0.700 CausalMutation CLINVAR New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. 26841830

2016
dbSNP: rs786204430
rs786204430
NEB
C 0.700 CausalMutation CLINVAR A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array. 26197980

2016
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
TAACA 0.700 CausalMutation CLINVAR Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. 26019235

2015
dbSNP: rs555445835
rs555445835
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153

2015
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs760200697
rs760200697
NEB ; RIF1
C 0.700 CausalMutation CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970

2015
dbSNP: rs1257495033
rs1257495033
NEB ; RIF1
CATCT 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs1344099907
rs1344099907
NEB ; RIF1
TAACA 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
T 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs1559168230
rs1559168230
NEB
T 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs191579691
rs191579691
NEB
A 0.700 CausalMutation CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572

2014
dbSNP: rs760935667
rs760935667
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs769345284
rs769345284
NEB
A 0.700 CausalMutation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs780022652
rs780022652
NEB
T 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs778593702
rs778593702
NEB
T 0.700 CausalMutation CLINVAR The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence. 19232495

2009
dbSNP: rs769345284
rs769345284
NEB
A 0.700 CausalMutation CLINVAR Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy. 18330676

2008
dbSNP: rs191579691
rs191579691
NEB
A 0.700 CausalMutation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139

2007
dbSNP: rs1458048713
rs1458048713
NEB ; RIF1
T 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs191579691
rs191579691
NEB
A 0.700 CausalMutation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs748922882
rs748922882
NEB ; RIF1
C 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006