CDKL5 Variants Search



This form allows you to search the database for CDKL5 variants. Click here if you'd like to search the proband database.
Search by one or more fields as required (Boolean operator = AND). Tip: leaving the form blank will return the full list of variants.
Searching by the protein name will query both HGVS nomenclature and previously known names. Please note that not all possible alternative nomenclature may be included.
The 'Group identical entries' function will combine entries matching perfectly across ALL the fields you have selected as a single result (please make sure the 'Variant ID' box is unchecked before proceeding).


Select output to display
Systematic name
Protein name (HGVS)
Genomic name
Alternative name(s)
Domain affected
Mutation type
Pathogenicity
Citation
dbSNP ID
Variant ID
Group identical entries
Field Option Entry
Mutation
Reference
Mutation Effects Domain
Pathogenicity Pathogenic
Likely pathogenic
Uncertain significance
Likely benign
Benign
Mutation type Missense
Nonsense
Silent
Intronic variant
Splicing variant
Exonic deletion or duplication
Frameshift insertion and/or deletion
In-frame insertion and/or deletion
5'UTR
3'UTR
Complex chromosomal arrangement
Multiple mutations
Uncertain/other
Database attributes Variant ID