Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730882200
rs730882200
ARFGEF2
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs886039811
rs886039811
B9D1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs797045412
rs797045412
BICD2
A 0.700 GeneticVariation CLINVAR

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: rs587783446
rs587783446
CHD7
T 0.700 CausalMutation CLINVAR

dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
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: rs869312714
rs869312714
CREBBP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs730882250
rs730882250
DPH1
C 0.700 GeneticVariation CLINVAR

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: rs121918494
rs121918494
FGFR2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776587763
rs776587763
FGFR2
A 0.700 CausalMutation CLINVAR

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: rs1563406024
rs1563406024
FZD3
GA 0.700 GeneticVariation CLINVAR

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: rs730882245
rs730882245
KIAA1109
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1569234334
rs1569234334
KIF4A
T 0.700 GeneticVariation CLINVAR