Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1135402749
rs1135402749
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.710 CausalMutation CLINVAR

dbSNP: rs104893898
rs104893898
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104893899
rs104893899
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs118161496
rs118161496
NUBPL
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs121908985
rs121908985
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system. 26345448

2015
dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. 10080174

1999
dbSNP: rs121913659
rs121913659
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs137852863
rs137852863
NDUFAF2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. 16200211

2005
dbSNP: rs138867882
rs138867882
NDUFS3 ; KBTBD4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs142609245
rs142609245
NDUFB3
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1445075330
rs1445075330
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		CCAAGT 0.700 CausalMutation CLINVAR

dbSNP: rs1485032272
rs1485032272
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs150667550
rs150667550
NDUFS2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. 24215330

2013
dbSNP: rs150667550
rs150667550
NDUFS2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. 20819849

2010
dbSNP: rs150966634
rs150966634
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations. 23562761

2013
dbSNP: rs150966634
rs150966634
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Siblings with leukoencephalopathy. 19073330

2008
dbSNP: rs1555703272
rs1555703272
SLC25A10
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency. 29211846

2018
dbSNP: rs199476116
rs199476116
COX1 ; ND2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR

dbSNP: rs199683937
rs199683937
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 CausalMutation CLINVAR

dbSNP: rs201430951
rs201430951
NUBPL
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs267606888
rs267606888
COX1 ; ND2
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28384199
rs28384199
ND4 ; ND5
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR