Gene: KMT2A ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555039242
rs1555039242
KMT2A
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555046428
rs1555046428
KMT2A
CCAGAT 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
A 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555052879
rs1555052879
KMT2A ; LOC101929089
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: 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: rs886041896
rs886041896
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs886041896
rs886041896
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs886041896
rs886041896
KMT2A
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555036394
rs1555036394
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 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. 25810209

2016
dbSNP: rs1555036436
rs1555036436
KMT2A
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016