Entrez Id: |
7355 |
Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
Entrez Id: |
84294 |
Gene Symbol: |
UTP23 |
UTP23
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
Entrez Id: |
10522 |
Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
Entrez Id: |
10939 |
Gene Symbol: |
AFG3L2 |
AFG3L2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
Entrez Id: |
84617 |
Gene Symbol: |
TUBB6 |
TUBB6
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias.
|
20725928 |
2010 |
NPHP3-ACAD11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
57459 |
Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
FAM120AOS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2904 |
Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
86 |
Gene Symbol: |
ACTL6A |
ACTL6A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
4285 |
Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
7703 |
Gene Symbol: |
PCGF2 |
PCGF2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79053 |
Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6575 |
Gene Symbol: |
SLC20A2 |
SLC20A2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2290 |
Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
IRAK1BP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6334 |
Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
100151683 |
Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6598 |
Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|