Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. 28941052

2018

dbSNP: rs781139634
rs781139634
0.700 CausalMutation CLINVAR Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing. 28386848

2018

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

2018

dbSNP: rs757823678
rs757823678
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: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857

2017

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. 27701732

2017

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Tatton-Brown-Rahman syndrome due to 2p23 microdeletion. 26866722

2017

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

2017

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

2017

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

2017

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. 24614070

2014

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

2014

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

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

2013

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR De novo mutations revealed by whole-exome sequencing are strongly associated with autism. 22495306

2012

dbSNP: rs757823678
rs757823678
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

2012

dbSNP: rs781139634
rs781139634
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

2012

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

2012

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR The DNMT3 family of mammalian de novo DNA methyltransferases. 21507354

2011

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

2011

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes. 20651149

2010

dbSNP: rs757823678
rs757823678
0.700 CausalMutation CLINVAR DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons. 17878930

2010