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: rs397516364
rs397516364
TPM1
0.020 GeneticVariation BEFREE We have examined endurance exercise as a means of improving recovery following muscle inactivity in our alpha-tropomyosin(slow)(Met9Arg)-transgenic mouse model of nemaline myopathy. 15367485

2004
dbSNP: rs397516364
rs397516364
TPM1
0.020 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: rs104894129
rs104894129
TPM2
0.010 GeneticVariation BEFREE The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation. 23689010

2013
dbSNP: rs118192170
rs118192170
RYR1
0.010 GeneticVariation BEFREE The mutation Ile4898Thr has been previously described in central core disease but not in core-rod myopathy. 20888934

2011
dbSNP: rs121909520
rs121909520
ACTA1
0.010 GeneticVariation BEFREE The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. 27357517

2016
dbSNP: rs121964852
rs121964852
TPM3
0.010 GeneticVariation BEFREE We also report a sixth family in which a recurrent TPM3 mutation (p.Arg168His) was associated with histological features of CFTD and nemaline myopathy in different family members. 18300303

2008
dbSNP: rs1273559032
rs1273559032
ACTA1
0.010 GeneticVariation BEFREE Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 14733965

2004
dbSNP: rs1373863123
rs1373863123
ACTB
0.010 GeneticVariation BEFREE To unravel the potential mechanisms involved, we dissected lower limb and diaphragm muscles from a knock-in mouse model of severe nemaline myopathy expressing the ACTA1 His40Tyr actin mutation found in human patients. 23656990

2013
dbSNP: rs137853306
rs137853306
TPM2
0.010 GeneticVariation BEFREE The E41K mutation in TPM2 gene encoding muscle regulatory protein beta-tropomyosin is associated with nemaline myopathy and cap disease. 29792862

2018
dbSNP: rs199474714
rs199474714
TPM3
0.010 GeneticVariation BEFREE We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr). 20012312

2010
dbSNP: rs267606626
rs267606626
ACTA1
0.010 GeneticVariation BEFREE Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 19553116

2009
dbSNP: rs267606627
rs267606627
ACTA1
0.010 GeneticVariation BEFREE Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 19553116

2009
dbSNP: rs387907090
rs387907090
RASL12 ; KBTBD13
0.010 GeneticVariation BEFREE Here, we report the case of a mother and daughter in China with NEM caused by a mutation (c.1222C>T) in KBTBD13. 31828823

2020
dbSNP: rs397515470
rs397515470
ACTB
0.010 GeneticVariation BEFREE The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation. 23689010

2013
dbSNP: rs730881159
rs730881159
TPM1
0.010 GeneticVariation BEFREE We report on the clinical, myopathological and muscle MRI findings in a German family with autosomal dominant NM due to a novel pathogenic TPM3 mutation (p.Ala156Thr). 20012312

2010
dbSNP: rs778022582
rs778022582
KLHL40
0.010 GeneticVariation BEFREE Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese. 31360996

2019
dbSNP: rs886044062
rs886044062
ACTA1
0.010 GeneticVariation BEFREE The diagnosis of nemaline myopathy was given based on the muscle pathology findings that revealed nemaline rods on light and electron microscopy and discovery of a novel mutation, E239K, in ACTA1. 21570694

2011
dbSNP: rs1559573882
rs1559573882
NEB
A 0.700 GeneticVariation CLINVAR

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

2014
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: 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: rs191579691
rs191579691
NEB
A 0.700 CausalMutation CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139

2007
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686

2004
dbSNP: rs750900690
rs750900690
NEB ; RIF1
A 0.700 GeneticVariation CLINVAR Nebulin mutations in autosomal recessive nemaline myopathy: an update. 12207938

2002