Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1569484300
rs1569484300
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 MT 9431 frameshift variant -/A ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484288
rs1569484288
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9273 protein altering variant -/ATC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2000 2000
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9531 frameshift variant -/C delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0
dbSNP: rs1569484299
rs1569484299
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9429 protein altering variant -/CCC ins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs1569484292
rs1569484292
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 MT 9311 inframe insertion -/GCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484301
rs1569484301
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.080 MT 9441 inframe insertion -/TTT delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.700 0
dbSNP: rs121434456
rs121434456
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1.000 0.120 MT 10438 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs121434463
rs121434463
ND4 ; ND5 ; TRNL2
MT 12320 non coding transcript exon variant A/G snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 0
dbSNP: rs2853493
rs2853493
ND4 ; ND5
MT 11467 synonymous variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs387906731
rs387906731
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1.000 0.120 MT 10450 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs587780529
rs587780529
COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 10134 missense variant C/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2014 2014
dbSNP: rs118203888
rs118203888
ND4 ; ND5 ; TRNS2
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs118203888
rs118203888
ND4 ; ND5 ; TRNS2
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CUI: C4016628
Disease: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS 		0.700 0
dbSNP: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 2003 2003
dbSNP: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 2 2003 2004
dbSNP: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
0.925 0.200 MT 12315 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 5 1996 2009
dbSNP: rs794726857
rs794726857
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.200 MT 8969 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 3 2014 2018
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
0.925 0.200 MT 12147 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2004 2004
dbSNP: rs199476112
rs199476112
ND4 ; ND5
0.925 0.160 MT 11778 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 1.000 2 1988 2011
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 2 2007 2009
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9237 missense variant G/A snv
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.700 1.000 1 2017 2017
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9237 missense variant G/A snv
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs1057516064
rs1057516064
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 9237 missense variant G/A snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.700 1.000 1 2017 2017