Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267608493
rs267608493
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2017
dbSNP: rs267608493
rs267608493
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs267608501
rs267608501
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs267608653
rs267608653
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2017
dbSNP: rs122460157
rs122460157
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients. 24564546 2014
dbSNP: rs62641235
rs62641235
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. 22922712 2013
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR CDKL5-Related Disorders: From Clinical Description to Molecular Genetics. 22670135 2012
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 19793311 2010
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. 19793311 2010
dbSNP: rs62641235
rs62641235
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. 19241098 2009
dbSNP: rs62641235
rs62641235
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR A CDKL5 mutated child with precocious puberty. 19396824 2009
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Key clinical features to identify girls with CDKL5 mutations. 18790821 2008
dbSNP: rs122460159
rs122460159
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs267606713
rs267606713
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 18809835 2008
dbSNP: rs267606713
rs267606713
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 18809835 2008
dbSNP: rs267606715
rs267606715
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. 18809835 2008
dbSNP: rs267608501
rs267608501
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. 18414213 2008
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 CausalMutation CLINVAR Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. 17993579 2008
dbSNP: rs267608511
rs267608511
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1839333
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
0.800 GeneticVariation UNIPROT Key clinical features to identify girls with CDKL5 mutations. 18790821 2008