Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116840805
rs116840805
0.010 GeneticVariation BEFREE Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. 18509671

2008

dbSNP: rs121908457
rs121908457
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006

dbSNP: rs121908458
rs121908458
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006

dbSNP: rs121909518
rs121909518
0.010 GeneticVariation BEFREE We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. 23155419

2012

dbSNP: rs1457591395
rs1457591395
0.010 GeneticVariation BEFREE In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1. 29635000

2018

dbSNP: rs1800553
rs1800553
0.010 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811

2007

dbSNP: rs199474724
rs199474724
0.010 GeneticVariation BEFREE The cross-referencing of these mutations in candidate genes for muscular dystrophy showed a homozygote mutation c.G674A in exon 4 of LMNA causing a protein change R225Q in an arginine conserved from human to Xenopus tropicalis and in lamin B1. 22431096

2012

dbSNP: rs28933693
rs28933693
0.010 GeneticVariation BEFREE Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well. 15736300

2005

dbSNP: rs367543077
rs367543077
0.010 GeneticVariation BEFREE The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. 26452345

2015

dbSNP: rs369758958
rs369758958
0.010 GeneticVariation BEFREE On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family. 29073160

2017

dbSNP: rs376510500
rs376510500
0.010 GeneticVariation BEFREE Our results emphasize the need to include the SGCA gene R77C mutation test in routine DNA analyses of severe dystrophinopathy-like muscular dystrophies in Finland, and suggest that the applicability of this test in other populations should be studied as well. 15736300

2005

dbSNP: rs548397345
rs548397345
0.010 GeneticVariation BEFREE SMCHD1 c.1040+1G>A, a pathogenic splice-site variant, was identified in a FSHD1 family with a borderline number of D4Z4 repeats (10) and a variable phenotype (in which a LMNA1 sequence variant was previously described), and SMCHD1 c.2606 G>T, a putative missense variant (p.Gly869Val) with strong in vitro indications of pathogenicity, was identified in a family with an unusual muscular dystrophy with some FSHD-like features. 24755953

2015

dbSNP: rs57207746
rs57207746
0.010 GeneticVariation BEFREE The inner nuclear membrane protein emerin was mislocalised upon expression of the muscular dystrophy mutants G232E, Q294P or R386K, which aberrantly assembled into nuclear aggregates, or upon expression of mutants causing progeria syndromes in vivo (lamin A del50, R471C, R527C and L530P). 16772334

2006

dbSNP: rs58034145
rs58034145
0.010 GeneticVariation BEFREE Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. 15548545

2005

dbSNP: rs72554656
rs72554656
0.010 GeneticVariation BEFREE In the first patient with the MD phenotype, a mutation within the exon 20 (Gln1288Ter) was found producing a stop codon just prior to the highly conserved ATP binding domain. 11936860

2001

dbSNP: rs747064211
rs747064211
0.010 GeneticVariation BEFREE In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1. 29635000

2018

dbSNP: rs760251358
rs760251358
DMD
0.010 GeneticVariation BEFREE In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1. 29635000

2018

dbSNP: rs869025337
rs869025337
0.010 GeneticVariation BEFREE POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 26642364

2016

dbSNP: rs975757101
rs975757101
0.010 GeneticVariation BEFREE Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. 24239059

2014

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 27527004

2016

dbSNP: rs142908436
rs142908436
A 0.700 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015