Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13266634
rs13266634
Diabetes Mellitus, Non-Insulin-Dependent
T 1.000 SusceptibilityMutation CLINVAR

dbSNP: rs4402960
rs4402960
Diabetes Mellitus, Non-Insulin-Dependent
T 1.000 SusceptibilityMutation CLINVAR

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography. 23751039

2013

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome. 22317973

2012

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
A 0.900 CausalMutation CLINVAR Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D. 22926243

2012

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. 21834037

2011

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
A 0.900 CausalMutation CLINVAR In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009

2011

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals. 21850009

2011

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Heterozygous missense mutations in HRAS are causative for Costello syndrome, with the c.34G > A (p.G12S) mutation as the most commonly found alteration. 20979192

2010

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Enhanced human brain associative plasticity in Costello syndrome. 20660566

2010

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. 19206176

2009

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
A 0.900 CausalMutation CLINVAR Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia. 19382114

2009

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Costello syndrome H-Ras alleles regulate cortical development. 19371735

2009

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level. 19669404

2009

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
A 0.900 CausalMutation CLINVAR Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Partially correlated thin annular sources: the scalar case. 18978862

2008

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. 18039947

2008

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. 17054105

2007

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. 17412879

2007

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 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
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR De novo heterozygous HRAS point mutations have been reported in more than 81 patients with Costello syndrome (CS), but genotype/phenotype correlation remains incomplete because the majority of patients share a common mutation, G12S, seen in 65/81 (80%). 16969868

2006

dbSNP: rs104894229
rs104894229
CUI: C0587248
Disease: Costello syndrome (disorder)
Costello syndrome (disorder)
T 0.900 CausalMutation CLINVAR Paternal bias in parental origin of HRAS mutations in Costello syndrome. 16835863

2006