Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.700 | CausalMutation | CLINVAR | Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. | 25204870 | 2015 |
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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 |
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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 |
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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 |
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G | 0.700 | CausalMutation | CLINVAR | Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. | 22426012 | 2012 |
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G | 0.700 | CausalMutation | CLINVAR | Early onset collagen VI myopathies: Genetic and clinical correlations. | 20976770 | 2010 |
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G | 0.700 | CausalMutation | CLINVAR | Autosomal recessive Bethlem myopathy. | 19949035 | 2009 |
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G | 0.700 | CausalMutation | CLINVAR | Autosomal recessive myosclerosis myopathy is a collagen VI disorder. | 18852439 | 2008 |
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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 |
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G | 0.700 | CausalMutation | CLINVAR | Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. | 11865138 | 2002 |