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: rs373072443
rs373072443
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.010 GeneticVariation BEFREE We report two adult siblings with classic Bethlem myopathy who are compound heterozygous for a single nucleotide deletion (exon 23; c.1770delG), leading to in-frame skipping of exon 23 on the maternal allele, and a missense mutation p.R830W in exon 28 on the paternal allele. 19884007 2009
dbSNP: rs761310536
rs761310536
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0018965
Disease:
Hematuria 		0.010 GeneticVariation BEFREE We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). 30808312 2019
dbSNP: rs761310536
rs761310536
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.010 GeneticVariation BEFREE We report a 14-year-old boy who had both Bethlem myopathy and recurrent hematuria and who carried a known de novo COL6A1 missense mutation c.877G > A (p.G293R). 30808312 2019
dbSNP: rs563449281
rs563449281
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation BEFREE We conclude that the COL6A2 p.Asp215Asn mutation is likely to be responsible for PME in this family; however, additional studies are warranted to further establish the pathogenic role of both COL6A2 and the extracellular proteolysis system in the pathogenesis of PME. 23138527 2013
dbSNP: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832 1996
dbSNP: rs794727418
rs794727418
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. 8782832 1996
dbSNP: rs878854362
rs878854362
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		T 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218 2016
dbSNP: rs727502828
rs727502828
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		C 0.700 CausalMutation CLINVAR Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. 17785673 2007
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: 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: 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: 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: rs121912940
rs121912940
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.800 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs267606750
rs267606750
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		A 0.800 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs1555872965
rs1555872965
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs1555873084
rs1555873084
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
dbSNP: rs794727418
rs794727418
Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C1834674
Disease:
BETHLEM MYOPATHY 1 		0.700 GeneticVariation UNIPROT Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. 11865138 2002
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 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. 25204870 2015