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: rs764275775
rs764275775
TYMP ; SCO2
1.000 22 50525859 missense variant C/A;G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2011 2011
dbSNP: rs770277446
rs770277446
TYMP ; SCO2
1.000 22 50526244 splice donor variant A/G;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2003 2003
dbSNP: rs773785934
rs773785934
TYMP ; SCO2
1.000 22 50525919 splice acceptor variant C/A;T snv 9.2E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 1999 1999
dbSNP: rs866001342
rs866001342
TYMP ; SCO2
1.000 22 50526648 stop gained C/A;T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2005 2005
dbSNP: rs892141220
rs892141220
TYMP ; SCO2
1.000 22 50526467 missense variant A/G snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2004 2004
dbSNP: rs946234163
rs946234163
TYMP ; SCO2
1.000 22 50526639 missense variant C/T snv 7.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2000 2000
dbSNP: rs1064792875
rs1064792875
TYMP ; SCO2
1.000 22 50525908 stop gained C/T snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs121908508
rs121908508
SCO2 ; NCAPH2
1.000 0.200 22 50524305 stop gained C/A;T snv
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 0
dbSNP: rs28937598
rs28937598
SCO2 ; NCAPH2
1.000 0.200 22 50523901 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 1.000 0 1999 2015
dbSNP: rs28937868
rs28937868
SCO2 ; NCAPH2
1.000 0.200 22 50524014 missense variant C/T snv
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 0
dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 0
dbSNP: rs74315510
rs74315510
SCO2 ; NCAPH2
0.925 0.240 22 50524255 stop gained G/A snv 8.4E-05 3.5E-05
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.700 0
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		0.800 1.000 0 2013 2015
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 1.000 0 1999 2015
dbSNP: rs74315511
rs74315511
SCO2 ; NCAPH2
0.925 0.240 22 50523994 missense variant C/T snv 8.0E-05 1.1E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs74315512
rs74315512
SCO2 ; NCAPH2
1.000 0.200 22 50524144 stop gained G/A snv 1.6E-05
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C0262918
Disease: Extraocular Muscle Paresis
Extraocular Muscle Paresis 		0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06
CUI: C1836923
Disease: Gastrointestinal dysmotility
Gastrointestinal dysmotility 		0.700 0
dbSNP: rs80358232
rs80358232
SCO2 ; NCAPH2
1.000 0.200 22 50523738 missense variant G/A;T snv 4.0E-06
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		0.800 0
dbSNP: rs1060499535
rs1060499535
TYMP ; SCO2
1.000 22 50526317 frameshift variant C/- delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009
dbSNP: rs1064792881
rs1064792881
TYMP ; SCO2
1.000 22 50526393 inframe insertion -/CCGTCGTCCAGCGCCGCG delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2002 2002
dbSNP: rs1064792885
rs1064792885
TYMP ; SCO2
1.000 22 50525787 frameshift variant -/A delins
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 1.000 1 2009 2009