Gene: KMT2A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs150800017
rs150800017
KMT2A
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs150800017
rs150800017
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs150800017
rs150800017
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 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 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555036394
rs1555036394
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

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 With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555036436
rs1555036436
KMT2A
T 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: Novel pathogenic variant and review of literature. 28359930

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

2017
dbSNP: rs1555039343
rs1555039343
KMT2A
T 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555039343
rs1555039343
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555039343
rs1555039343
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555039606
rs1555039606
KMT2A
C 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555039606
rs1555039606
KMT2A
C 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555039606
rs1555039606
KMT2A
C 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555040480
rs1555040480
KMT2A
TAG 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555040480
rs1555040480
KMT2A
TAG 0.700 CausalMutation CLINVAR Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017
dbSNP: rs1555040480
rs1555040480
KMT2A
TAG 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555046404
rs1555046404
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. 28359930

2017
dbSNP: rs1555046404
rs1555046404
KMT2A
T 0.700 CausalMutation CLINVAR Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations. 27777327

2017
dbSNP: rs1555046404
rs1555046404
KMT2A
T 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 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909

2017