ClinVar Miner

List of variants in gene CDKL5 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18444908-18505130)x1
GRCh37/hg19 Xp22.13(chrX:18479297-18501928)x3
GRCh37/hg19 Xp22.13(chrX:18493983-18501928)x3
NC_000023.10:g.(?_18643248)_(18646707_?)del
NC_000023.11:g.18582217_18582221del
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys)
NM_001323289.2(CDKL5):c.1944+6G>A
NM_001323289.2(CDKL5):c.2038A>T (p.Lys680Ter) rs1569220754
NM_001323289.2(CDKL5):c.2046+16A>G
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758
NM_001323289.2(CDKL5):c.2152+172C>A
NM_001323289.2(CDKL5):c.2152+195G>A
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2376+158A>G
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) rs1555955237
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.283-43G>A rs267608448
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
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.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter) rs1569215664
NM_001323289.2(CDKL5):c.825+180G>A
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.99+29T>G rs267608422
NM_003159.2(CDKL5):c.100-2A>G rs267608423
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_003159.2(CDKL5):c.1007_1014del (p.Gln336fs) rs1064793381
NM_003159.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_003159.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_003159.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_003159.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_003159.2(CDKL5):c.1071del (p.Asp357fs) rs786204965
NM_003159.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_003159.2(CDKL5):c.113T>G (p.Ile38Ser) rs1555947847
NM_003159.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1209_1210AC[3] (p.Leu405fs) rs1555951981
NM_003159.2(CDKL5):c.121A>T (p.Ile41Phe) rs587783071
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1324C>T (p.Gln442Ter) rs587783151
NM_003159.2(CDKL5):c.1345_1363del (p.Glu449fs) rs587783113
NM_003159.2(CDKL5):c.1365_1366insA (p.Gly456fs) rs886044424
NM_003159.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_003159.2(CDKL5):c.1432_1433insT (p.Arg478fs) rs786204971
NM_003159.2(CDKL5):c.145+2T>C rs267608430
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_003159.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_003159.2(CDKL5):c.1546del (p.Tyr516fs) rs1555952063
NM_003159.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
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.1671dup (p.Arg558fs) rs587783115
NM_003159.2(CDKL5):c.1776_1777del (p.Ser593fs) rs1064793376
NM_003159.2(CDKL5):c.1777del (p.Ser593fs) rs1064793376
NM_003159.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_003159.2(CDKL5):c.1795dup (p.Thr599fs) rs587783116
NM_003159.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_003159.2(CDKL5):c.1885_1886dup (p.Leu629fs) rs587783117
NM_003159.2(CDKL5):c.1891_1916del (p.Ile631fs) rs794727063
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_003159.2(CDKL5):c.1909del (p.Ala637fs) rs587783118
NM_003159.2(CDKL5):c.1942_1944+2delinsA rs1555952163
NM_003159.2(CDKL5):c.1944+2T>G rs587783155
NM_003159.2(CDKL5):c.1945-5T>C rs1064796245
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.2047-1G>A rs267608650
NM_003159.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
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.212del (p.Asn71fs) rs886043296
NM_003159.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) rs587783119
NM_003159.2(CDKL5):c.214_216del (p.Ile72del) rs786204960
NM_003159.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
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.2231_2265del (p.Ser744fs) rs1064796503
NM_003159.2(CDKL5):c.2254dup (p.Arg752fs) rs587783121
NM_003159.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_003159.2(CDKL5):c.2277-4T>C rs1064794369
NM_003159.2(CDKL5):c.2305G>T (p.Glu769Ter) rs886041872
NM_003159.2(CDKL5):c.2323_2326del (p.Glu775fs) rs267608654
NM_003159.2(CDKL5):c.234_238dup (p.Arg80fs) rs1555949033
NM_003159.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_003159.2(CDKL5):c.2376+1G>A rs267608656
NM_003159.2(CDKL5):c.2376+1G>C rs267608656
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.2377-31T>C rs267608658
NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_003159.2(CDKL5):c.248del (p.Gly83fs) rs587783109
NM_003159.2(CDKL5):c.250A>T (p.Lys84Ter) rs587783074
NM_003159.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_003159.2(CDKL5):c.2522dup (p.Leu842fs) rs886042014
NM_003159.2(CDKL5):c.2531dup (p.His844fs) rs786204980
NM_003159.2(CDKL5):c.2549del (p.Asn850fs) rs587783125
NM_003159.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_003159.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
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.2608dup (p.Ser870fs) rs587783126
NM_003159.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2671C>T (p.Gln891Ter) rs587783159
NM_003159.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_003159.2(CDKL5):c.282+2T>G rs587783075
NM_003159.2(CDKL5):c.282+4delA rs587783110
NM_003159.2(CDKL5):c.283-99C>A rs4825261
NM_003159.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
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.393T>G (p.Ile131Met) rs1085307934
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_003159.2(CDKL5):c.403+49_403+53delTTAAG rs267608473
NM_003159.2(CDKL5):c.403G>C (p.Asp135His) rs1064794919
NM_003159.2(CDKL5):c.404-1G>T rs267608474
NM_003159.2(CDKL5):c.404-2A>G rs587783080
NM_003159.2(CDKL5):c.404-3C>A rs587783079
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.463+1G>A rs267608479
NM_003159.2(CDKL5):c.463+22T>C rs267608478
NM_003159.2(CDKL5):c.463+5G>T rs886042303
NM_003159.2(CDKL5):c.464-2A>G rs267608480
NM_003159.2(CDKL5):c.464-40_464-37delCTTT rs267608481
NM_003159.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_003159.2(CDKL5):c.524G>T (p.Arg175Ile) rs1064794734
NM_003159.2(CDKL5):c.526T>A (p.Trp176Arg) rs587783084
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_003159.2(CDKL5):c.542A>C (p.Glu181Ala) rs587783085
NM_003159.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_003159.2(CDKL5):c.554+11G>A rs267608498
NM_003159.2(CDKL5):c.554+1G>A rs1555950083
NM_003159.2(CDKL5):c.555-2A>G rs1555950455
NM_003159.2(CDKL5):c.577G>A (p.Asp193Asn) rs587783086
NM_003159.2(CDKL5):c.590T>G (p.Val197Gly) rs1057521806
NM_003159.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_003159.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_003159.2(CDKL5):c.626C>G (p.Pro209Arg) rs587783088
NM_003159.2(CDKL5):c.629del (p.Leu210fs) rs1555950470
NM_003159.2(CDKL5):c.64+2del rs267608419
NM_003159.2(CDKL5):c.65-1G>A rs1555940533
NM_003159.2(CDKL5):c.65dupG (p.Ala23Serfs) rs267608420
NM_003159.2(CDKL5):c.693del (p.Ser232fs) rs886041764
NM_003159.2(CDKL5):c.700C>T (p.Gln234Ter) rs587783089
NM_003159.2(CDKL5):c.713del (p.Phe238fs) rs1555950486
NM_003159.2(CDKL5):c.73G>A (p.Gly25Arg) rs587783130
NM_003159.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_003159.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_003159.2(CDKL5):c.768dup (p.Ser257fs) rs1131691926
NM_003159.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145
NM_003159.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_003159.2(CDKL5):c.808dup (p.Leu270fs) rs587783112
NM_003159.2(CDKL5):c.825+5G>A rs1555951149
NM_003159.2(CDKL5):c.826-1G>C rs587783149
NM_003159.2(CDKL5):c.854G>A (p.Arg285Lys) rs1064795672
NM_003159.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_003159.2(CDKL5):c.858C>A (p.Tyr286Ter) rs766511365
NM_003159.2(CDKL5):c.871T>C (p.Cys291Arg) rs1131691376
NM_003159.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.978-23T>C rs267608555
NM_003159.2(CDKL5):c.978-2A>G rs267608553
NM_003159.2(CDKL5):c.99+1G>T rs267608421
NM_003159.2(CDKL5):c.99+5G>A rs587783131
NM_003159.2:c.2376+118T>A
NM_003159.2:c.283-99C>A

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.