|
| Entrez Id: |
818 |
| Gene Symbol: |
CAMK2G |
CAMK2G
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
29911 |
| Gene Symbol: |
HOOK2 |
HOOK2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8289 |
| Gene Symbol: |
ARID1A |
ARID1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3908 |
| Gene Symbol: |
LAMA2 |
LAMA2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10846 |
| Gene Symbol: |
PDE10A |
PDE10A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
170302 |
| Gene Symbol: |
ARX |
ARX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
22880 |
| Gene Symbol: |
MORC2 |
MORC2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3190 |
| Gene Symbol: |
HNRNPK |
HNRNPK
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8831 |
| Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
11253 |
| Gene Symbol: |
MAN1B1 |
MAN1B1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
1200 |
| Gene Symbol: |
TPP1 |
TPP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9526 |
| Gene Symbol: |
MPDU1 |
MPDU1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2904 |
| Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2290 |
| Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
91147 |
| Gene Symbol: |
TMEM67 |
TMEM67
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
| Entrez Id: |
2782 |
| Gene Symbol: |
GNB1 |
GNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|