Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

dbSNP: rs1562846694
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

dbSNP: rs1057519389
rs1057519389
T 0.700 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017

dbSNP: rs1555743003
rs1555743003
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016

dbSNP: rs752746786
rs752746786
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs869312822
rs869312822
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs869312823
rs869312823
C 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs869312824
rs869312824
G 0.700 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016

dbSNP: rs869312873
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

dbSNP: rs121909574
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

dbSNP: rs387907144
rs387907144
T 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015

dbSNP: rs864309488
rs864309488
G 0.700 GeneticVariation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015

dbSNP: rs387907144
rs387907144
T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012

dbSNP: rs121908595
rs121908595
G 0.700 CausalMutation CLINVAR Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. 19156172

2009

dbSNP: rs121908595
rs121908595
G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008

dbSNP: rs121908595
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

dbSNP: rs121908595
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

dbSNP: rs121908595
rs121908595
G 0.700 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007

dbSNP: rs121908595
rs121908595
G 0.700 CausalMutation CLINVAR Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. 17366577

2007

dbSNP: rs121908595
rs121908595
G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006

dbSNP: rs1057518681
rs1057518681
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518843
rs1057518843
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518845
rs1057518845
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518848
rs1057518848
CATTG 0.700 CausalMutation CLINVAR

dbSNP: rs1057518926
rs1057518926
C 0.700 GeneticVariation CLINVAR