rs1026300967
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
rs1026300967
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
|
28940190 |
2017 |
rs1026300967
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
|
27676246 |
2017 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Coenzyme Q deficiency in muscle.
|
21844807 |
2011 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
|
18474229 |
2008 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
|
24270420 |
2013 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
|
28540186 |
2017 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.
|
18579827 |
2008 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
|
26185144 |
2015 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
CoQ10 deficiency diseases in adults.
|
17485248 |
2007 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetics of coenzyme q10 deficiency.
|
25126048 |
2014 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
|
16116126 |
2005 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
|
25658047 |
2015 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
|
17332895 |
2007 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
|
22368301 |
2012 |
rs1045118320
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
|
21540551 |
2011 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of cardiac abnormalities in Costello syndrome.
|
12210337 |
2002 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
|
22317973 |
2012 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.
|
29073591 |
2017 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
|
28390077 |
2017 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
|
16155195 |
2006 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.
|
25914166 |
2015 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
HRAS and the Costello syndrome.
|
17250658 |
2007 |
rs104894230
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
|
18470943 |
2008 |