COL6A3, collagen type VI alpha 3 chain, 1293

N. diseases: 156; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period. 28688748 2017
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR The role of mutations in COL6A3 in isolated dystonia. 26872670 2016
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. 26004199 2015
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Natural history of pulmonary function in collagen VI-related myopathies. 24271325 2013
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770 2010
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal recessive Bethlem myopathy. 19949035 2009
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 18852439 2008
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. 18366090 2008
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. 15563506 2005
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy. 11932968 2002
dbSNP: rs886042883
rs886042883
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. 11381124 2001