Gene: PURA ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378

2017
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374

2017
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374

2017
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378

2017
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378

2017
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374

2017
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR Premature Thelarche and the PURA Syndrome. 28486374

2017
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR Patient with a novel purine-rich element binding protein A mutation. 28164378

2017
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469

2015
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469

2015
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469

2015
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA. 26582469

2015
dbSNP: rs793888527
rs793888527
PURA
C 0.700 GeneticVariation CLINVAR De novo mutations in PURA are associated with hypotonia and developmental delay. 27148565

2015
dbSNP: rs1554128999
rs1554128999
PURA
G 0.700 CausalMutation CLINVAR Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. 25342064

2014