Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1334099693
rs1334099693
SOX4
A 0.700 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
dbSNP: rs1557043622
rs1557043622
SLC35A2
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019
dbSNP: rs1554389088
rs1554389088
CAMK2B
A 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1554944271
rs1554944271
DEAF1
G 0.700 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Understanding the Epilepsy in POLG Related Disease. 28837072

2017
dbSNP: rs1555639411
rs1555639411
BPTF
TG 0.700 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691

2015
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872

2013
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Clinical and molecular features of POLG-related mitochondrial disease. 23545419

2013
dbSNP: rs149617956
rs149617956
MITF
A 0.700 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
dbSNP: rs1555453538
rs1555453538
POLG ; MIR6766
C 0.700 GeneticVariation CLINVAR Polymerase gamma 1 mutations: clinical correlations. 20220442

2010
dbSNP: rs121908595
rs121908595
MAP2K1
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
MAP2K1
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
MAP2K1
G 0.700 CausalMutation CLINVAR Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. 18042262

2008
dbSNP: rs121908595
rs121908595
MAP2K1
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
MAP2K1
G 0.700 CausalMutation CLINVAR Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome. 17567882

2007
dbSNP: rs121908595
rs121908595
MAP2K1
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
MAP2K1
G 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs1057519521
rs1057519521
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1064796765
rs1064796765
DYNC1H1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307845
rs1085307845
PHIP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691299
rs1131691299
DDX3X
T 0.700 CausalMutation CLINVAR

dbSNP: rs1131691771
rs1131691771
PHIP ; IRAK1BP1
A 0.700 GeneticVariation CLINVAR