Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016
dbSNP: rs121434591
rs121434591
MATR3
0.020 GeneticVariation BEFREE The p.S85C MATR3 variant was previously associated to a different phenotype, namely a distal myopathy associated with dysphagia and dysphonia. 28029397

2017
dbSNP: rs121434591
rs121434591
MATR3
0.020 GeneticVariation BEFREE Sixteen patients from 6 families with late onset distal myopathy associated with the p.S85C MATR3 mutation were characterized. 25154462

2014
dbSNP: rs121913653
rs121913653
MYH7
0.010 GeneticVariation BEFREE We identified a novel nonsense variant in DSG2 (c.710T > A, p.Leu237Ter) and a reported pathogenic missense variant of distal myopathy in MYH7 (c. 1322C > T, p.Thr441Met) in the proband of an ARVC pedigree. 31653443

2020
dbSNP: rs768941858
rs768941858
FLNC ; FLNC-AS1
0.010 GeneticVariation BEFREE FLNC mutation c.7123G > A, p.V2375I in the immunoglobulin (Ig)-like domain 21 can be associated with distal myopathy with typical MFM features and lower motor neuron syndrome. 31421687

2019
dbSNP: rs869312739
rs869312739
ACTA1
0.010 GeneticVariation BEFREE Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. 30732915

2019
dbSNP: rs387906587
rs387906587
FLNC
0.010 GeneticVariation BEFREE We report three patients with a predominantly proximal myopathy due to p.A193T mutation in the actin-binding domain of FLNC, which has so far only been associated with a distal myopathy. 27816332

2017
dbSNP: rs573899913
rs573899913
FLNC ; FLNC-AS1
0.010 GeneticVariation BEFREE A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. 29073160

2017
dbSNP: rs751755895
rs751755895
TTN ; TTN-AS1
0.010 GeneticVariation BEFREE A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. 29073160

2017
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
0.010 GeneticVariation BEFREE Through whole-exome sequencing we identified a novel stop-gain variant (c.107635C>T, p.(Gln35879Ter)) in the TTN gene, coding a part of the M-line of titin, in 14 patients with autosomal recessive distal myopathy and Serbian ancestry. 28295036

2017
dbSNP: rs764434631
rs764434631
TTN ; TTN-AS1
0.010 GeneticVariation BEFREE A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. 29073160

2017
dbSNP: rs116840789
rs116840789
CAV3 ; SSUH2
0.010 GeneticVariation BEFREE This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes. 26947586

2016
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198

2010
dbSNP: rs150516929
rs150516929
CRYAB
0.010 GeneticVariation BEFREE The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 20171888

2010
dbSNP: rs45544633
rs45544633
MYH7 ; MHRT
0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198

2010
dbSNP: rs553628577
rs553628577
MYH14
0.010 GeneticVariation BEFREE Here, we attempt to dissect the mechanism(s) by which mutations in the rod region of beta-MyHC can cause a variety of diseases by analyzing two mutations at a single amino acid (R1500P and R1500W) which cause two distinct diseases (Laing-type early-onset distal myopathy and dilated cardiomyopathy, respectively). 19854198

2010
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 19590214

2009
dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 17698502

2008
dbSNP: rs121913627
rs121913627
MYH7
0.010 GeneticVariation BEFREE Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16). 17383184

2007