ClinVar Miner

List of variants reported as likely pathogenic for CDKL5 disorder

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000023.11:g.18587953GC[1]
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.104C>T (p.Thr35Ile)
NM_001323289.2(CDKL5):c.1071del (p.Asp357fs) rs786204965
NM_001323289.2(CDKL5):c.1076del (p.Gly359fs)
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) rs786204968
NM_001323289.2(CDKL5):c.1371dup (p.Leu458fs)
NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) rs786204970
NM_001323289.2(CDKL5):c.1432_1433insT (p.Arg478fs) rs786204971
NM_001323289.2(CDKL5):c.1446del (p.Ser481_Tyr482insTer) rs2147160749
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.1470_1471del (p.Ala491fs)
NM_001323289.2(CDKL5):c.1547_1554del (p.Tyr516fs)
NM_001323289.2(CDKL5):c.1581del (p.Thr528fs)
NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro) rs1555949009
NM_001323289.2(CDKL5):c.1782T>G (p.Tyr594Ter)
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.1791del (p.Tyr598fs)
NM_001323289.2(CDKL5):c.1851del (p.Asp618fs)
NM_001323289.2(CDKL5):c.1942C>T (p.Gln648Ter)
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.2047-2A>G
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_001323289.2(CDKL5):c.2217dup (p.Pro740fs)
NM_001323289.2(CDKL5):c.2258_2259del (p.Gln753fs)
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.2374dup (p.Thr792fs) rs1602295779
NM_001323289.2(CDKL5):c.2376+5G>A rs267608657
NM_001323289.2(CDKL5):c.2420_2430del (p.Ser807fs)
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2530del (p.His844fs)
NM_001323289.2(CDKL5):c.2531dup (p.His844fs) rs786204980
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_001323289.2(CDKL5):c.2711del (p.Pro904fs)
NM_001323289.2(CDKL5):c.2732G>A (p.Trp911Ter)
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.372_385del (p.His124fs)
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.395T>G (p.Val132Gly)
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.464G>A (p.Gly155Asp)
NM_001323289.2(CDKL5):c.469G>C (p.Ala157Pro) rs2147145500
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) rs786204988
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_001323289.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_001323289.2(CDKL5):c.577G>C (p.Asp193His)
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.593G>A (p.Gly198Asp) rs1925696959
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_001323289.2(CDKL5):c.601_603del (p.Leu201del) rs2147148016
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.64+1G>A
NM_001323289.2(CDKL5):c.64+2T>C
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.65G>T (p.Gly22Val)
NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) rs786204990
NM_001323289.2(CDKL5):c.745-2A>G
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
NM_001323289.2(CDKL5):c.812T>C (p.Leu271Pro)
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.857dup (p.Tyr286Ter)
NM_001323289.2(CDKL5):c.859_868del (p.Leu287fs)
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.942del (p.Lys314fs) rs786204992
NM_001323289.2(CDKL5):c.964dup (p.Thr322fs) rs267608552
NM_001323289.2(CDKL5):c.978-2A>G rs267608553
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_003159.2(CDKL5):c.65dupG rs267608420

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.