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: rs1555223259
rs1555223259
TBX5
C 0.700 CausalMutation CLINVAR A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data. 29555671

2018
dbSNP: rs113331868
rs113331868
CAMK2A
T 0.700 CausalMutation CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089

2017
dbSNP: rs1057516039
rs1057516039
KMT2D
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516047
rs1057516047
TTC7A ; STPG4
T 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs587777710
rs587777710
GATA6
T 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations. 20683980

2010
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518

2008
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs137852813
rs137852813
SOS1
G 0.700 CausalMutation CLINVAR SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. 17586837

2007
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
dbSNP: rs80338796
rs80338796
RAF1
A 0.700 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs1057518868
rs1057518868
FOXF1 ; FENDRR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518914
rs1057518914
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1114167294
rs1114167294
FOXP4
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1163944538
rs1163944538
TMEM94
GA 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs1294950721
rs1294950721
JAG1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
C 0.700 CausalMutation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs143044921
rs143044921
FREM2
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1554643168
rs1554643168
PUF60
G 0.700 GeneticVariation CLINVAR