Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
TC 0.700 CausalMutation CLINVAR Novel Locus for Paroxysmal Kinesigenic Dyskinesia Mapped to Chromosome 3q28-29. 27173777

2016
dbSNP: rs1064793851
rs1064793851
PRRT2 ; LOC112268170
C 0.700 CausalMutation CLINVAR Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome. 25403460

2015
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Five cases of paroxysmal kinesigenic dyskinesia by genetic diagnosis. 25667652

2015
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases. 24661410

2014
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR Unusual variability of PRRT2 linked phenotypes within a family. 24755245

2014
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR PRRT2 mutations are related to febrile seizures in epileptic patients. 25522171

2014
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
TC 0.700 CausalMutation CLINVAR Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation. 24465263

2014
dbSNP: rs1064793851
rs1064793851
PRRT2 ; LOC112268170
C 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP. 23352743

2013
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. 24370076

2013
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR PRRT2-related disorders: further PKD and ICCA cases and review of the literature. 23299620

2013
dbSNP: rs1064793851
rs1064793851
PRRT2 ; LOC112268170
C 0.700 CausalMutation CLINVAR PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. 22870186

2012
dbSNP: rs1555502908
rs1555502908
PAGR1 ; PRRT2
G 0.700 GeneticVariation CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103

2012
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103

2012
dbSNP: rs387907126
rs387907126
PRRT2 ; LOC112268170
T 0.700 CausalMutation CLINVAR PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. 23077017

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. 22870186

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR PRRT2 mutations cause hemiplegic migraine. 23077016

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
GC 0.700 CausalMutation CLINVAR The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions. 22877996

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660

2012
dbSNP: rs587778771
rs587778771
PRRT2 ; LOC112268170
G 0.700 CausalMutation CLINVAR Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. 22832103

2012
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
TC 0.700 CausalMutation CLINVAR PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. 22744660

2012
dbSNP: rs730882067
rs730882067
PRRT2 ; LOC112268170
TC 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 Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. 22101681

2011
dbSNP: rs796052941
rs796052941
PAGR1 ; PRRT2
T 0.700 GeneticVariation CLINVAR