Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2016

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016

dbSNP: rs781978013
rs781978013
0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2016

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016

dbSNP: rs868985556
rs868985556
0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2016

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs886041896
rs886041896
0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2016

dbSNP: rs150800017
rs150800017
0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015