Gene: COL6A2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 25533456

2015
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870

2015
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain. 25533456

2015
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870

2015
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. 23564457

2013
dbSNP: rs1555872965
rs1555872965
COL6A2
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
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy. 23564457

2013
dbSNP: rs1555873084
rs1555873084
COL6A2
G 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
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. 22426012

2012
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. 22426012

2012
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Early onset collagen VI myopathies: Genetic and clinical correlations. 20976770

2010
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Autosomal recessive Bethlem myopathy. 19949035

2009
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Autosomal recessive Bethlem myopathy. 19949035

2009
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 18852439

2008
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Autosomal recessive myosclerosis myopathy is a collagen VI disorder. 18852439

2008
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. 15689448

2005
dbSNP: rs1555872965
rs1555872965
COL6A2
A 0.700 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002
dbSNP: rs1555873084
rs1555873084
COL6A2
G 0.700 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138

2002