rs1555039606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
rs1555039606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
rs1555039606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
rs1555046615
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
rs1555046615
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
rs1555046615
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
rs1555047506
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
rs1555047506
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
rs1555047506
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
rs781978013
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
rs781978013
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
rs781978013
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
rs782297546
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.
|
28359930 |
2017 |
rs782297546
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
|
27777327 |
2017 |
rs782297546
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
|
27759909 |
2017 |
rs1555039606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555039606
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
rs1555046615
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
rs1555046615
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555047506
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555047506
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
rs781978013
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
rs781978013
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs782297546
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
|
25810209 |
2016 |
rs782297546
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |