Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1034395178
rs1034395178
LZTR1
A 0.700 CausalMutation CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822

2018
dbSNP: rs1135401744
rs1135401744
KYNU
T 0.700 CausalMutation CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
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: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
T 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: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
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: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and related disorders: genetics and pathogenesis. 16124853

2005
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
T 0.700 CausalMutation CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759

2004
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs1057518914
rs1057518914
RPS6KA3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519334
rs1057519334
NPR2
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112795301
rs112795301
FOXP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913355
rs121913355
BRAF
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1276519904
rs1276519904
H3-3A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1364709483
rs1364709483
TBX2 ; TBX2-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554110735
rs1554110735
TFAP2A
C 0.700 CausalMutation CLINVAR