Gene: COL6A3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR The role of mutations in COL6A3 in isolated dystonia. 26872670

2016
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199

2015
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. 23564457

2013
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation 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: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Natural history of pulmonary function in collagen VI-related myopathies. 24271325

2013
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Autosomal recessive Bethlem myopathy. 19949035

2009
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 18852439

2008
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. 17537636

2007
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 11932968

2002
dbSNP: rs886042883
rs886042883
COL6A3
T 0.700 GeneticVariation CLINVAR Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 11381124

2001