Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT A 4-year-old boy with severe ocular phenotype was found to be compound heterozygous for two OPA1 mutations, a p.S64fs frameshift deletion and a p.V377I missense mutation, possibly implying an additive effect. 23401657

2013
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. 22857269

2012
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy. 22382025

2012
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation. 20185555

2010
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Novel mutations of the OPA1 gene in Chinese dominant optic atrophy. 19969356

2010
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect. 19325939

2009
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. 19319978

2009
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT A phenotypic variation of dominant optic atrophy and deafness (ADOAD) due to a novel OPA1 mutation. 18204809

2008
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Reversible optic neuropathy with OPA1 exon 5b mutation. 18360822

2008
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy. 16617242

2006
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy. 16513463

2006
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Dominant optic atrophy: correlation between clinical and molecular genetic studies. 15948788

2005
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. 14961560

2003
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. 12566046

2003
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. 12036970

2002
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. 11440989

2001
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Mutation spectrum and splicing variants in the OPA1 gene. 11810270

2001
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. 11440988

2001
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. 11017080

2000
dbSNP: rs780922750
rs780922750
OPA1
0.700 GeneticVariation UNIPROT Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. 11017079

2000