Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779027563
rs779027563
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009

dbSNP: rs267607116
rs267607116
A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969

2009

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy. 16372351

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006

dbSNP: rs104894229
rs104894229
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005

dbSNP: rs1057518879
rs1057518879
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519946
rs1057519946
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499542
rs1060499542
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308046
rs1085308046
C 0.700 CausalMutation CLINVAR

dbSNP: rs1131692230
rs1131692230
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121918494
rs121918494
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554555063
rs1554555063
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1563406024
rs1563406024
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1569234334
rs1569234334
T 0.700 GeneticVariation CLINVAR

dbSNP: rs431905509
rs431905509
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777893
rs587777893
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
T 0.700 CausalMutation CLINVAR

dbSNP: rs730882200
rs730882200
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs730882225
rs730882225
T 0.700 GeneticVariation CLINVAR