Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. 27172900

2016
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. 25915028

2015
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761

2012
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361

2012
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. 22120146

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
0.800 GeneticVariation UNIPROT Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681

2011
dbSNP: rs387907128
rs387907128
PRRT2 ; LOC112268170
T 0.800 CausalMutation CLINVAR

dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. 28074849

2017
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
0.700 GeneticVariation UNIPROT PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. 27172900

2016
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR The evolving spectrum of PRRT2-associated paroxysmal diseases. 26598493

2015
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
0.700 GeneticVariation UNIPROT PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. 25915028

2015
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation. 24074546

2014
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. 23768507

2014
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. 22752065

2013
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. 23363396

2013
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation. 22902309

2013
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. 22782515

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. 22243967

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. 22845787

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761

2012
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
0.700 GeneticVariation UNIPROT Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. 22209761

2012
dbSNP: rs767799831
rs767799831
PAGR1 ; PRRT2
0.700 GeneticVariation UNIPROT Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. 22131361

2012
dbSNP: rs77838305
rs77838305
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660

2012