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: rs869312882
rs869312882
CYTB ; ND5 ; ND6
1.000 0.040 MT 14243 frameshift variant -/C delins
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		0.700 0
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs587776440
rs587776440
CYTB ; ND5
1.000 0.120 MT 13514 missense variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 4 2001 2004
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
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: rs199476106
rs199476106
CYTB ; ND5 ; ND6
1.000 0.160 MT 14495 missense variant A/G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 0 1992 2001
dbSNP: rs267606894
rs267606894
CYTB ; ND5
1.000 0.200 MT 12770 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
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: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 1.000 0 1994 1996
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		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: 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: rs199476108
rs199476108
CYTB ; ND5 ; ND6
1.000 0.160 MT 14482 missense variant C/A;G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 1.000 0 1992 2002
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: rs267606899
rs267606899
CYTB ; ND5
1.000 0.160 MT 12848 missense variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 0 1991 2005
dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
1.000 0.160 MT 14568 missense variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 0 1992 2001