rs34637584
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers.
|
29603409 |
2018 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling.
|
28103901 |
2017 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Disease penetrance of late-onset parkinsonism: a meta-analysis.
|
25330418 |
2014 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations.
|
24243757 |
2013 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls.
|
18213618 |
2008 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity.
|
17200152 |
2007 |
rs34637584
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The objective of this study was to assess performance characteristics of G2019S as a clinical test for PD in the setting of typical movement disorder clinics in the United States.
|
17020475 |
2006 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
LRRK2 gene in Parkinson disease: mutation analysis and case control association study.
|
16157901 |
2005 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.
|
16102999 |
2005 |
rs34637584
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
|
15541309 |
2004 |
rs797044951
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
|
28503590 |
2019 |
rs886039494
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
|
28503590 |
2019 |
rs104894635
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
How close are we to therapies for Sanfilippo disease?
|
28921412 |
2018 |
rs104894639
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
How close are we to therapies for Sanfilippo disease?
|
28921412 |
2018 |
rs1242562412
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
|
28390064 |
2018 |
rs1437184398
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
|
29226631 |
2018 |
rs1553637932
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
rs1553638309
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
|
28708278 |
2018 |
rs1553749681
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
|
29130632 |
2018 |
rs1554100923
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
|
28460589 |
2018 |
rs1554129039
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
rs1554129039
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1554129113
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
rs1554129113
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
rs1554314738
|
|
AC |
0.700 |
CausalMutation |
CLINVAR |
WISP3 mutation associated with pseudorheumatoid dysplasia.
|
29092958 |
2018 |