Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs367543077
rs367543077
TBCE ; B3GALNT2
0.020 GeneticVariation BEFREE Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México. 28011345

2017
dbSNP: rs367543077
rs367543077
TBCE ; B3GALNT2
0.020 GeneticVariation BEFREE A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses. 26452345

2015
dbSNP: rs121918464
rs121918464
PTPN11
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: rs1249080185
rs1249080185
EPHB2
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: rs137852520
rs137852520
L1CAM
0.010 GeneticVariation BEFREE The hemizygous L1CAM variant p.G452R, previously implicated in patients with L1 syndrome, was identified in patient 5, who presented with antenatal hydrocephalus. 31504653

2019
dbSNP: rs180758272
rs180758272
KIF7
0.010 GeneticVariation BEFREE An eight year old female with severe developmental delays, epilepsy, left postaxial polydactyly of the hand and abnormalities of brain development including hydrocephalus, pachygyria and absence of the body and splenium of the corpus callous was a compound heterozygote for c.461G > A, predicting p.(Arg154Gln) and c.2959 G > A, predicting p.(Glu987Lys) that was maternally inherited and her father was unavailable for testing. 26174511

2015
dbSNP: rs387906597
rs387906597
BMP4
0.010 GeneticVariation BEFREE A patient with anophthalmia, microphthalmia with sclerocornea, right-sided diaphragmatic hernia, and hydrocephalus was found to have a c.592C >T (p.R198X) nonsense mutation in BMP4. 21340693

2011
dbSNP: rs398122368
rs398122368
SMARCB1
0.010 GeneticVariation BEFREE The p.Arg37His PV in the DNA-binding domain of SMARCB1 causes a distinctive syndrome, likely through a gain-of-function or dominant-negative effect, which is characterized by severe ID and hydrocephalus resulting from choroid plexus hyperplasia. 29907796

2019
dbSNP: rs4647924
rs4647924
FGFR3
0.010 GeneticVariation BEFREE Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding. 27568649

2016
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: rs1057518879
rs1057518879
PLOD1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554555063
rs1554555063
TMEM67
A 0.700 GeneticVariation 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: rs431905509
rs431905509
SLC25A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs587777893
rs587777893
MTOR
A 0.700 CausalMutation CLINVAR

dbSNP: rs730882245
rs730882245
KIAA1109
A 0.700 GeneticVariation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.700 CausalMutation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312714
rs869312714
CREBBP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1085308046
rs1085308046
PTEN
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR