Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs562015640
rs562015640
PTEN
0.010 GeneticVariation BEFREE Targeted pan-neuronal knockin of a <i>Ptpn11</i> allele encoding the active SHP2 E76K mutant resulted in hydrocephalus due to aberrant development of ependymal cells and their cilia. 29559584

2018
dbSNP: rs768366978
rs768366978
NF1
0.010 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012
dbSNP: rs778740017
rs778740017
COX6B1
0.010 GeneticVariation BEFREE We hereby report a case of isolated COX deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p.R20C mutation in the COX6B1 gene, which encodes an integral, nuclear-encoded COX subunit. 24781756

2015
dbSNP: rs866445127
rs866445127
NF1
0.010 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012
dbSNP: rs869025667
rs869025667
VHL
0.010 GeneticVariation BEFREE A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene. 10697963

2000
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
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
HRAS ; LRRC56
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
HRAS ; LRRC56
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: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. 16329078

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. 16443854

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. 16881968

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Germline mutations in HRAS proto-oncogene cause Costello syndrome. 16170316

2005
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Somatic mosaicism for an HRAS mutation causes Costello syndrome. 16969868

2006
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
T 0.700 CausalMutation CLINVAR Severe neonatal manifestations of Costello syndrome. 18039947

2008
dbSNP: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060499542
rs1060499542
PDGFRB
G 0.700 CausalMutation CLINVAR

dbSNP: rs1085308046
rs1085308046
PTEN
C 0.700 CausalMutation CLINVAR

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

2009
dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs587783446
rs587783446
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.700 CausalMutation CLINVAR