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: rs786205225
rs786205225
NDUFB11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs771783839
rs771783839
NDUFS3
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs757043077
rs757043077
NDUFAF5
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7. 21607760

2012
dbSNP: rs752513525
rs752513525
NDUFA13
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. 25901006

2015
dbSNP: rs750971390
rs750971390
NDUFS1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs587776949
rs587776949
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 CausalMutation CLINVAR

dbSNP: rs536400690
rs536400690
FOXRED1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs398124308
rs398124308
FOXRED1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		GGAGT 0.700 GeneticVariation CLINVAR Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 22200994

2012
dbSNP: rs376281345
rs376281345
NDUFS4
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR

dbSNP: rs373075574
rs373075574
FOXRED1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 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

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

dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation 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: rs199683937
rs199683937
NDUFV1
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 CausalMutation CLINVAR

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

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: 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: 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: 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: rs1485032272
rs1485032272
NDUFS1
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: rs142609245
rs142609245
NDUFB3
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 GeneticVariation CLINVAR