|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Genetic testing for dilated cardiomyopathy in clinical practice.
|
22464770 |
2012 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.
|
23840593 |
2013 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.
|
18533079 |
2008 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.
|
10424815 |
1999 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
|
12707239 |
2003 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.
|
21492761 |
2011 |
|
rs977277400
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.
|
7493025 |
1995 |
|
rs946006593
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
|
rs946006593
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
rs946006593
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
|
26944241 |
2016 |
|
rs946006593
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.
|
23644463 |
2013 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
|
23687123 |
2013 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
|
23176820 |
2012 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
|
26173968 |
2016 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
|
23435086 |
2013 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.
|
28932395 |
2017 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.
|
24621584 |
2014 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Early manifestations of BPAN in a pediatric patient.
|
25263061 |
2014 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.
|
24847269 |
2014 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Network organization of the human autophagy system.
|
20562859 |
2010 |
|
rs886041382
|
|
Overgrowth
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
|
25592411 |
2015 |
|
rs886041065
|
|
Overgrowth
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs886039908
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs869025411
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.
|
12651868 |
2003 |
|
rs869025411
|
|
Overgrowth
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
|
24665001 |
2014 |