Gene: COL6A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912936
rs121912936
COL6A1
G 0.800 CausalMutation CLINVAR Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 28877744

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637

2017
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877

2013
dbSNP: rs121912936
rs121912936
COL6A1
G 0.800 CausalMutation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity. 18825676

2008
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs121912936
rs121912936
COL6A1
G 0.800 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs121912939
rs121912939
COL6A1
A 0.800 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs121912935
rs121912935
COL6A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912935
rs121912935
COL6A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121912939
rs121912939
COL6A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. 26867126

2016
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877

2013
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. 24223098

2013
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Flow cytometry analysis: a quantitative method for collagen VI deficiency screening. 22075033

2012
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Muscle fiber atrophy and regeneration coexist in collagen VI-deficient human muscle: role of calpain-3 and nuclear factor-κB signaling. 22975586

2012
dbSNP: rs398123643
rs398123643
COL6A1
A 0.710 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs886043321
rs886043321
COL6A1
T 0.700 GeneticVariation CLINVAR Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. 29417091

2018
dbSNP: rs1556425596
rs1556425596
COL6A1
T 0.700 CausalMutation CLINVAR Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. 28424332

2017
dbSNP: rs398123640
rs398123640
COL6A1
C 0.700 CausalMutation CLINVAR Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. 28182637

2017
dbSNP: rs886043321
rs886043321
COL6A1
T 0.700 GeneticVariation CLINVAR Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 25535305

2015
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. 24801232

2014
dbSNP: rs121912938
rs121912938
COL6A1
A 0.700 CausalMutation CLINVAR Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies. 24038877

2013