COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870 2015
dbSNP: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870 2015
dbSNP: rs1555877252
rs1555877252
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. 25380242 2015
dbSNP: rs1555877252
rs1555877252
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation 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: rs747900252
rs747900252
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 CausalMutation CLINVAR Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution. 25535305 2015
dbSNP: rs387906609
rs387906609
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy. 24801232 2014
dbSNP: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		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: rs1568928804
rs1568928804
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 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: rs267606748
rs267606748
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		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: rs374669775
rs374669775
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 CausalMutation CLINVAR Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. 23326386 2013
dbSNP: rs727502827
rs727502827
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 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: rs727502828
rs727502828
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		C 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: rs886042332
rs886042332
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		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: rs886044088
rs886044088
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		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: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		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: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		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: rs747900252
rs747900252
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.700 CausalMutation CLINVAR Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. 21280092 2011