List of variants reported as pathogenic for CDKL5 disorder by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val)	rs122460159
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs)	rs1555951981
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)	rs786204967
NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs)	rs267608623
NM_001323289.2(CDKL5):c.146-1G>A	rs587783399
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr)	rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)	rs122460158
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)	rs1602300837
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)	rs1555955296
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)	rs267608490
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)	rs267606715
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)	rs786204962

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.