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 |
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 |
rs587777893
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
rs730882225
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1060499542
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1131692230
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518879
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519946
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085308046
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
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 |
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 |
rs431905509
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
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 |
rs1554555063
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs267607116
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
rs730882247
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |