Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937899
rs28937899
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		A 0.710 GeneticVariation CLINVAR The recessive mode of inheritance of MGA type III as a result of the p.Q139X mutation is supported by the carrier status of the unaffected father. 18985435

2008
dbSNP: rs28937899
rs28937899
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		A 0.710 CausalMutation CLINVAR

dbSNP: rs1057516497
rs1057516497
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1382779104
rs1382779104
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555732963
rs1555732963
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		TC 0.700 GeneticVariation CLINVAR OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 20350831

2010
dbSNP: rs1555736793
rs1555736793
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555736803
rs1555736803
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		CT 0.700 GeneticVariation CLINVAR OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 20350831

2010
dbSNP: rs1555736814
rs1555736814
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs80356523
rs80356523
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		G 0.700 CausalMutation CLINVAR Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 26190011

2015
dbSNP: rs80356523
rs80356523
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		G 0.700 CausalMutation CLINVAR Costeff syndrome: clinical features and natural history. 25201222

2014
dbSNP: rs80356523
rs80356523
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		G 0.700 CausalMutation CLINVAR Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 11668429

2001
dbSNP: rs80356524
rs80356524
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		T 0.700 CausalMutation CLINVAR

dbSNP: rs80356525
rs80356525
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 CausalMutation CLINVAR Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. 25159689

2015
dbSNP: rs80356525
rs80356525
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 CausalMutation CLINVAR A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. 24136862

2013
dbSNP: rs80356525
rs80356525
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 CausalMutation CLINVAR OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 15342707

2004
dbSNP: rs80356526
rs80356526
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		C 0.700 CausalMutation CLINVAR