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: 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
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 8839 missense variant G/A;C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2013 2013
dbSNP: rs1556423632
rs1556423632
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 9191 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2005 2005
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0004134
Disease: Ataxia
Ataxia 		0.700 1.000 1 2016 2016
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2012 2012
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: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.080 MT 9379 stop gained G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2002 2002
dbSNP: rs587776437
rs587776437
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 9478 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2011 2011
dbSNP: rs587776438
rs587776438
COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 10254 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2010 2010
dbSNP: rs587776444
rs587776444
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 8989 missense variant G/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2013 2013
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: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
MT 12271 non coding transcript exon variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
MT 12283 non coding transcript exon variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
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: rs118203889
rs118203889
ND4 ; ND5 ; TRNS2
1.000 MT 12207 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		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: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
0.925 0.200 MT 12315 non coding transcript exon variant G/A 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: rs121434473
rs121434473
ND4 ; ND5 ; TRNH
1.000 MT 12183 non coding transcript exon variant G/A snv
CUI: C4016611
Disease: PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS 		0.700 0
dbSNP: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
0.925 0.200 MT 12147 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs121434475
rs121434475
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
1.000 0.080 MT 9997 non coding transcript exon variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121434476
rs121434476
COX3 ; ND3 ; ND4 ; ND4L ; TRNG
MT 10010 non coding transcript exon variant T/C snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.120 MT 8839 missense variant G/A;C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0