Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34002892
rs34002892
GNPTAB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report. 25606425

2014
dbSNP: rs34002892
rs34002892
GNPTAB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha beta -subunits precursor gene. 16465621

2006
dbSNP: rs201943194
rs201943194
DNAH11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs180177035
rs180177035
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 16474404

2006
dbSNP: rs180177035
rs180177035
BRAF
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. 16439621

2006
dbSNP: rs1557781252
rs1557781252
GATAD2B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1555928716
rs1555928716
RPS6KA3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554904159
rs1554904159
BRSK2 ; LOC107984298
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
dbSNP: rs1554893835
rs1554893835
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554776954
rs1554776954
STXBP1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1554709792
rs1554709792
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554709683
rs1554709683
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554709662
rs1554709662
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1554709654
rs1554709654
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1554649366
rs1554649366
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		TCA 0.700 CausalMutation CLINVAR

dbSNP: rs1554639173
rs1554639173
NFIB
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554317931
rs1554317931
GLI3
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553544133
rs1553544133
SATB2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1352010373
rs1352010373
TMEM94
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918470
rs121918470
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006