Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519629
rs1057519629
0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164

2017

dbSNP: rs1057519629
rs1057519629
0.700 CausalMutation CLINVAR Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 28663785

2017

dbSNP: rs1057519630
rs1057519630
0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164

2017

dbSNP: rs1057519630
rs1057519630
0.700 CausalMutation CLINVAR Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 28663785

2017

dbSNP: rs1057518882
rs1057518882
ND6
0.700 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs421016
rs421016
GBA
0.700 SusceptibilityMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers. 26251043

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism. 24355527

2014

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported. 23938256

2014

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We aim to characterize these compensatory mechanisms and early disease-related changes by quantifying movement-related cerebral function in subjects at significantly increased risk of developing Parkinson's disease, namely carriers of a leucine-rich repeat kinase 2-G2019S mutation associated with dominantly inherited parkinsonism. 23250886

2013

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurons and parkinsonism phenotypes of motor dysfunction. 22539006

2013

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The study provides support for a common ancestor in Norwegian families with LRRK2 p.G2019S parkinsonism. 20621541

2011

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%). 20933457

2011

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In addition, evaluation of LRRK1 variants in our large Lrrk2 p.G2019S-parkinsonism series from a Tunisian (n=145) identified a missense mutation (p.L416M) resulting in an average 6.2 years younger age at disease onset. 20144646

2010

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data. 18809839

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The distribution in age at onset and clinical features in Lrrk2 p.R1441C patients are similar to idiopathic and Lrrk2 p.G2019S parkinsonism. 18337586

2008

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE All patients carrying the LRRK2 G2019S exhibited typical levodopa-responsive parkinsonism, and severe levodopa-induced dyskinesia was observed in the patient carrying the LRRK2 and parkin mutations. 17388990

2007

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. 17230458

2007

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The underlying disease mechanisms of LRRK2 G2019S-associated parkinsonism are similar to those of typical Parkinson disease. 16966501

2006

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The Lrrk2 kinase domain G2019S substitution is the most common genetic basis of familial and sporadic parkinsonism. 16437559

2006

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology. 17060589

2006

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In summary, our study demonstrates that LRRK2 G2019S accounts for parkinsonism in several families within Europe and North America. 15726496

2005

dbSNP: rs63750756
rs63750756
0.050 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2016

dbSNP: rs63750756
rs63750756
0.050 GeneticVariation BEFREE A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism. 22169201

2013

dbSNP: rs63750756
rs63750756
0.050 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797

2011