Gene: KMT2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810

2015
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810

2015
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555047506
rs1555047506
KMT2A
C 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810

2015
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555046615
rs1555046615
KMT2A
G 0.700 CausalMutation CLINVAR Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. 25186178

2014