|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
|
10398267 |
1999 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
|
23307537 |
2013 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.
|
16835932 |
2006 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
|
17245405 |
2007 |
|
rs1555179320
|
|
Overgrowth
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
|
21344641 |
2011 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
|
25208612 |
2014 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
|
22415731 |
2012 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
|
28868593 |
2017 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
|
22284826 |
2012 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
|
rs777096695
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
|
23266196 |
2013 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
|
25208612 |
2014 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutation in the AGK gene in two siblings with unusual Sengers syndrome.
|
28868593 |
2017 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.
|
23266196 |
2013 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
|
22277967 |
2012 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.
|
22415731 |
2012 |
|
rs766413410
|
|
Overgrowth
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
|
22284826 |
2012 |
|
rs121918608
|
|
Overgrowth
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.
|
16736098 |
2006 |
|
rs121918608
|
|
Overgrowth
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
S-adenosylhomocysteine hydrolase deficiency: two siblings with fetal hydrops and fatal outcomes.
|
20852937 |
2010 |
|
rs121918608
|
|
Overgrowth
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.
|
26095522 |
2016 |
|
rs121918608
|
|
Overgrowth
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
|
22959829 |
2012 |
|
rs121918608
|
|
Overgrowth
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.
|
26527160 |
2015 |