Gene: CDKL5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients. 28272453

2017
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. 20801516

2011
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009

2008
dbSNP: rs281865361
rs281865361
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. 12782284

2003
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. 15531314

2004
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online. 10220153

1999
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. 19324861

2009
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. 16361673

2006
dbSNP: rs61752060
rs61752060
RS1 ; CDKL5
C 0.800 GeneticVariation CLINVAR ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 17987333

2008
dbSNP: rs61752063
rs61752063
RS1 ; CDKL5
G 0.800 CausalMutation CLINVAR

dbSNP: rs61752067
rs61752067
RS1 ; CDKL5
A 0.800 CausalMutation CLINVAR

dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 15937075

2005
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene. 9760195

1998
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. 12928282

2003
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene]. 10589241

1999
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. 18369700

2008
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Molecular genetic characteristics of X-linked retinoschisis in Koreans. 19390641

2009
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. 21701876

2011