Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy. 28667884

2017

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. 27991732

2017

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2017

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732

2017

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722

2016

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. 21844811

2011

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens. 20729844

2010

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons. 20228804

2010

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149

2010

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 19344873

2009

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2007

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Coordinate regulation of DNA methyltransferase expression during oogenesis. 17445268

2007

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR The Polycomb group protein EZH2 directly controls DNA methylation. 16357870

2006

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome. 16501171

2006

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse. 16725135

2006

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system. 15672446

2005

dbSNP: rs781139634
rs781139634
A 0.700 CausalMutation CLINVAR DNA methyltransferase expression in the mouse germ line during periods of de novo methylation. 15739230

2005