rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1562846694
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
rs1057519389
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
|
28017372 |
2017 |
rs1555743003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
rs752746786
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs869312822
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs869312823
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs869312824
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
rs869312873
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
|
26923739 |
2016 |
rs121909574
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
|
25590586 |
2015 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
rs864309488
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
rs387907144
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
|
19156172 |
2009 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.
|
18042262 |
2008 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.
|
17981815 |
2008 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.
|
17551924 |
2007 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.
|
17567882 |
2007 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
|
17366577 |
2007 |
rs121908595
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
rs1057518681
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518843
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518845
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518848
|
|
CATTG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057518926
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|