Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057515572
rs1057515572
PMS2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		ACT 0.700 GeneticVariation CLINVAR Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 17557300

2007
dbSNP: rs1057516044
rs1057516044
ABCC9
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057516048
rs1057516048
NSD1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs1057518644
rs1057518644
HGSNAT
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518978
rs1057518978
ADNP
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		CT 0.700 CausalMutation CLINVAR

dbSNP: rs1057518992
rs1057518992
NFIA
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519925
rs1057519925
PIK3CA
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519946
rs1057519946
PPP2R1A
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060499626
rs1060499626
ZMYND11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs1064793345
rs1064793345
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938

2012
dbSNP: rs1064793829
rs1064793829
GATAD2B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840

2017
dbSNP: rs1064794254
rs1064794254
UPF3B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. 22609145

2012
dbSNP: rs1064794254
rs1064794254
UPF3B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. 19238151

2010
dbSNP: rs1064794254
rs1064794254
UPF3B
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. 17704778

2007
dbSNP: rs1064795760
rs1064795760
BICD2
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308039
rs1085308039
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1085308040
rs1085308040
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308041
rs1085308041
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308042
rs1085308042
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1085308043
rs1085308043
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308044
rs1085308044
PTEN ; KLLN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1085308045
rs1085308045
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308046
rs1085308046
PTEN
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		C 0.700 CausalMutation CLINVAR