Gene: HNRNPU ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR De novo mutations in HNRNPU result in a neurodevelopmental syndrome. 28944577

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. 28393272

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of de novo loss of function variants in HNRNPU. 28815871

2017
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. 26845106

2016
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979

2015
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899

2014
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. 22678713

2012
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 21800092

2012
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Functional diversity of the hnRNPs: past, present and perspectives. 20795951

2010
dbSNP: rs1553283037
rs1553283037
HNRNPU
C 0.700 GeneticVariation CLINVAR Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. 20382278

2010