Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797044526
rs797044526
DYRK1A ; LOC105372797
T 0.700 GeneticVariation CLINVAR DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. 25944381

2015
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
dbSNP: rs137854544
rs137854544
CTSA
A 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907

2014
dbSNP: rs875989777
rs875989777
CTSA
C 0.700 CausalMutation CLINVAR Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis. 24769197

2014
dbSNP: rs1064795104
rs1064795104
EXOC6B
C 0.700 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 GeneticVariation CLINVAR Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant. 22528146

2012
dbSNP: rs387907144
rs387907144
ARID1B
T 0.700 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
dbSNP: rs201431517
rs201431517
MTFMT
A 0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147

2011
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. 20883824

2011
dbSNP: rs267606959
rs267606959
POLG
A 0.700 CausalMutation CLINVAR A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 20142534

2010
dbSNP: rs267607048
rs267607048
SHOC2
G 0.700 GeneticVariation CLINVAR Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. 19684605

2009
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008
dbSNP: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Vitamin K induces osteoblast differentiation through pregnane X receptor-mediated transcriptional control of the Msx2 gene. 17875939

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: rs104894366
rs104894366
KRAS
C 0.700 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006
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: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002