ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18442534-18529433)x0
GRCh37/hg19 Xp22.13(chrX:18597661-18600349)x1
NM_001323289.2(CDKL5):c.1007_1014del (p.Gln336fs) rs1064793381
NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs) rs587783113
NM_001323289.2(CDKL5):c.1546del (p.Tyr516fs) rs1555952063
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs) rs587783116
NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs) rs587783117
NM_001323289.2(CDKL5):c.1909del (p.Ala637fs) rs587783118
NM_001323289.2(CDKL5):c.1942_1944+2delinsA rs1555952163
NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) rs587783119
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2231_2265del (p.Ser744fs) rs1064796503
NM_001323289.2(CDKL5):c.2254dup (p.Arg752fs) rs587783121
NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs) rs267608654
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_001323289.2(CDKL5):c.248del (p.Gly83fs) rs587783109
NM_001323289.2(CDKL5):c.2522dup (p.Leu842fs) rs886042014
NM_001323289.2(CDKL5):c.2549del (p.Asn850fs) rs587783125
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) rs1555955237
NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) rs587783126
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.282+4del rs587783110
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
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.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.629del (p.Leu210fs) rs1555950470
NM_001323289.2(CDKL5):c.693del (p.Ser232fs) rs886041764
NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter) rs1569215664
NM_001323289.2(CDKL5):c.808dup (p.Leu270fs) rs587783112
NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_003159.2(CDKL5):c.1209_1210AC[3] (p.Leu405fs) rs1555951981
NM_003159.2(CDKL5):c.1324C>T (p.Gln442Ter) rs587783151
NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_003159.2(CDKL5):c.1670C>G (p.Ser557Ter) rs587783145
NM_003159.2(CDKL5):c.1944+2T>G rs587783155
NM_003159.2(CDKL5):c.2095G>T (p.Glu699Ter) rs886041673
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.2203_2204AG[1] (p.Arg735fs) rs587783120
NM_003159.2(CDKL5):c.220G>T (p.Glu74Ter) rs587783073
NM_003159.2(CDKL5):c.2305G>T (p.Glu769Ter) rs886041872
NM_003159.2(CDKL5):c.250A>T (p.Lys84Ter) rs587783074
NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter) rs1085307470
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.2671C>T (p.Gln891Ter) rs587783159
NM_003159.2(CDKL5):c.282+2T>G rs587783075
NM_003159.2(CDKL5):c.351T>A (p.Tyr117Ter) rs587783077
NM_003159.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_003159.2(CDKL5):c.356T>G (p.Leu119Arg) rs587783078
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_003159.2(CDKL5):c.404-2A>G rs587783080
NM_003159.2(CDKL5):c.413C>T (p.Pro138Leu) rs587783081
NM_003159.2(CDKL5):c.419A>G (p.Asn140Ser) rs1057524663
NM_003159.2(CDKL5):c.427dup (p.Ile143fs) rs1555949752
NM_003159.2(CDKL5):c.449A>G (p.Lys150Arg) rs587783083
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.542A>C (p.Glu181Ala) rs587783085
NM_003159.2(CDKL5):c.555-2A>G rs1555950455
NM_003159.2(CDKL5):c.577G>A (p.Asp193Asn) rs587783086
NM_003159.2(CDKL5):c.65-1G>A rs1555940533
NM_003159.2(CDKL5):c.700C>T (p.Gln234Ter) rs587783089
NM_003159.2(CDKL5):c.73G>A (p.Gly25Arg) rs587783130
NM_003159.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_003159.2(CDKL5):c.768dup (p.Ser257fs) rs1131691926
NM_003159.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_003159.2(CDKL5):c.826-1G>C rs587783149
NM_003159.2(CDKL5):c.858C>A (p.Tyr286Ter) rs766511365
NM_003159.2(CDKL5):c.99+5G>A rs587783131

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.