Gene: KMT2A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
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: rs782297546
rs782297546
KMT2A
A 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs886041896
rs886041896
KMT2A
T 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs886041896
rs886041896
KMT2A
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs1555036394
rs1555036394
KMT2A
T 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: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555036436
rs1555036436
KMT2A
T 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: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555039242
rs1555039242
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: rs1555046428
rs1555046428
KMT2A
CCAGAT 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: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
A 0.700 CausalMutation CLINVAR A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198

2015
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
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: rs1555052879
rs1555052879
KMT2A ; LOC101929089
A 0.700 CausalMutation CLINVAR Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. 25574841

2015