|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6440 |
| Gene Symbol: |
SFTPC |
SFTPC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3708 |
| Gene Symbol: |
ITPR1 |
ITPR1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
|
29663667 |
2018 |
|
| Entrez Id: |
1376 |
| Gene Symbol: |
CPT2 |
CPT2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23126 |
| Gene Symbol: |
POGZ |
POGZ
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| 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: |
91949 |
| Gene Symbol: |
COG7 |
COG7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
91147 |
| Gene Symbol: |
TMEM67 |
TMEM67
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
166378 |
| Gene Symbol: |
SPATA5 |
SPATA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
3745 |
| Gene Symbol: |
KCNB1 |
KCNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
399671 |
| Gene Symbol: |
HEATR4 |
HEATR4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5230 |
| Gene Symbol: |
PGK1 |
PGK1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8216 |
| Gene Symbol: |
LZTR1 |
LZTR1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
84126 |
| Gene Symbol: |
ATRIP |
ATRIP
|
0.100 |
CausalMutation
|
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: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |