Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1352878283
rs1352878283
SCO2 ; NCAPH2
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs149718203
rs149718203
COX15 ; CUTC
C 0.700 GeneticVariation CLINVAR Leigh syndrome associated with a novel mutation in the COX15 gene. 26959537

2016
dbSNP: rs759452074
rs759452074
SCO2 ; NCAPH2
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
G 0.700 CausalMutation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs863224229
rs863224229
SURF1 ; SURF2
G 0.700 GeneticVariation CLINVAR Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency. 27756633

2016
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 25895478

2015
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 25914718

2015
dbSNP: rs137852767
rs137852767
SDHA
0.700 GeneticVariation UNIPROT SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs147816470
rs147816470
SURF1
A 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs782490558
rs782490558
SURF1
A 0.700 CausalMutation CLINVAR Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. 26341968

2015
dbSNP: rs863224228
rs863224228
SURF1 ; SURF2
AT 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs373436822
rs373436822
IARS2
A 0.700 CausalMutation CLINVAR Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. 25130867

2014
dbSNP: rs587776949
rs587776949
NDUFS4
C 0.700 CausalMutation CLINVAR Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637

2014
dbSNP: rs587780529
rs587780529
COX3 ; ND3 ; ND4 ; ND4L
A 0.700 CausalMutation CLINVAR Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. 25118196

2014
dbSNP: rs782007828
rs782007828
SURF1
G 0.700 GeneticVariation CLINVAR Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay. 25629267

2014
dbSNP: rs782190413
rs782190413
SURF1
A 0.700 CausalMutation CLINVAR A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome. 27896082

2014
dbSNP: rs782623477
rs782623477
SURF1
A 0.700 CausalMutation CLINVAR A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. 24462369

2014
dbSNP: rs121908577
rs121908577
BCS1L
A 0.700 CausalMutation CLINVAR Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome. 24172246

2013
dbSNP: rs121918657
rs121918657
SURF1
A 0.700 CausalMutation CLINVAR SURF1 deficiency: a multi-centre natural history study. 23829769

2013
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome. 24118886

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands. 24002810

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C. 22789932

2013
dbSNP: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 GeneticVariation CLINVAR Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene. 23206802

2013
dbSNP: rs587776444
rs587776444
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
C 0.700 CausalMutation CLINVAR A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome. 23266623

2013