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: 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: 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: 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: rs2853493
rs2853493
ND4 ; ND5
MT 11467 synonymous variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
MT 12372 synonymous variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 6 1990 2007
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		0.800 1.000 4 1990 1994
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: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C3275684
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 		0.800 1.000 0 2005 2007
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
Cleft palate and bilateral cleft lip 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C1838916
Disease: ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET 		0.800 1.000 0 2005 2007
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 7 1993 2007
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.810 1.000 2 1993 2013
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: 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