|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia result
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Low density lipoprotein increased
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Hypercholesterolemia result
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Ischemic stroke
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Eyelid Xanthoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews.
|
1867200 |
1991 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
|
8462973 |
1993 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.
|
22160468 |
2012 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A point mutation of low-density-lipoprotein receptor causing rapid degradation of the receptor.
|
1446662 |
1992 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F).
|
10422803 |
1999 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Array-based resequencing for mutations causing familial hypercholesterolemia.
|
21376320 |
2011 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail.
|
22509010 |
2012 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
|
22390909 |
2012 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features of bilateral temporal bone xanthoma with LDLR gene mutation.
|
25921077 |
2015 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.
|
26343872 |
2015 |
|
Hyperlipoproteinemia Type IIa
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population.
|
7583548 |
1995 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Familial hypercholesterolemia - homozygous
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
|
Hypercholesterolemia, Familial
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |