rs749838192
|
|
Cardiomyopathy, Dilated
|
CTGAGTCACTGCTGCATGCT |
0.700 |
GeneticVariation
|
CLINVAR |
A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy.
|
20159436 |
2010 |
rs1471478620
|
|
Mitochondrial DNA Depletion Syndrome 1
|
AG |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121913039
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1064792878
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
|
19056268 |
2009 |
rs80358232
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs74315511
|
|
MYOPIA 6 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs74315511
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs28937868
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs28937598
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs149977726
|
|
Mitochondrial DNA Depletion Syndrome 1
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs946234163
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs892141220
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes.
|
14720311 |
2004 |
rs866001342
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
|
15781193 |
2005 |
rs797044455
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs797044455
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
rs786205098
|
|
Mitochondrial DNA Depletion Syndrome 1
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs786205097
|
|
Mitochondrial DNA Depletion Syndrome 1
|
AG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs773785934
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
rs770277446
|
|
Mitochondrial DNA Depletion Syndrome 1
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
rs764275775
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
rs761665644
|
|
Gastrointestinal dysmotility
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs761665644
|
|
Mitochondrial DNA Depletion Syndrome 1
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs761665644
|
|
Extraocular Muscle Paresis
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs761665644
|
|
Peripheral Neuropathy
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs74315512
|
|
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|