Disease: CARDIOFACIOCUTANEOUS SYNDROME 3 ×
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908595
rs121908595
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		G 0.800 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621 2006
dbSNP: rs121908594
rs121908594
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs797044593
rs797044593
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		G 0.700 CausalMutation CLINVAR A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 25423878 2015
dbSNP: rs727504317
rs727504317
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		A 0.700 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260 2007
dbSNP: rs1057519732
rs1057519732
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs121908596
rs121908596
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs876657651
rs876657651
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C3809006
Disease:
CARDIOFACIOCUTANEOUS SYNDROME 3 		G 0.700 GeneticVariation CLINVAR