|
rs367543077
|
|
|
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 |
|
rs367543077
|
|
|
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 |
|
rs121918464
|
|
|
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 |
|
rs1249080185
|
|
|
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 |
|
rs137852520
|
|
|
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 |
|
rs180758272
|
|
|
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 |
|
rs387906597
|
|
|
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 |
|
rs398122368
|
|
|
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 |
|
rs4647924
|
|
|
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 |
|
rs562015640
|
|
|
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 |
|
rs768366978
|
|
|
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 |
|
rs778740017
|
|
|
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 |
|
rs866445127
|
|
|
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 |
|
rs869025667
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A family with hydrocephalus as a complication of cerebellar hemangioblastoma: identification of Pro157Leu mutation in the VHL gene.
|
10697963 |
2000 |
|
rs104894229
|
|
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 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
|
17054105 |
2007 |
|
rs104894229
|
|
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 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
|
16329078 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
|
16881968 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
|
16170316 |
2005 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Somatic mosaicism for an HRAS mutation causes Costello syndrome.
|
16969868 |
2006 |
|
rs104894229
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Severe neonatal manifestations of Costello syndrome.
|
18039947 |
2008 |
|
rs1057518879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057519946
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|