ClinVar Miner

List of variants in gene CDKL5 reported as likely pathogenic for Early infantile epileptic encephalopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001037343.1:c.100-?_744+?dup
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs) rs1569219331
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr) rs122460157
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_001323289.2(CDKL5):c.825+1dup
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_003159.2(CDKL5):c.-253_-163+?del

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.