ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 258
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HGVS dbSNP
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 4-BP DEL, 166GAAA
CDKL5, IVS6AS, G-T, -1
CDKL5, IVSAS13, G-A, -1
GRCh37/hg19 Xp22.13(chrX:18442534-18529433)x0
GRCh37/hg19 Xp22.13(chrX:18444908-18505130)x1
GRCh37/hg19 Xp22.13(chrX:18597661-18600349)x1
GRCh38/hg38 Xp22.13(chrX:18560628-18588106)x2
GRCh38/hg38 Xp22.13(chrX:18564194-18595430)x1
NC_000023.10:g.(?_18582577)_(18600090_?)del
NC_000023.10:g.(?_18643248)_(18646707_?)del
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1007_1014del (p.Gln336fs) rs1064793381
NM_001323289.2(CDKL5):c.1008_1029del (p.Ser337fs) rs786204964
NM_001323289.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_001323289.2(CDKL5):c.1071del (p.Asp357fs) rs786204965
NM_001323289.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=)
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_001323289.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1209_1210AC[3] (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_001323289.2(CDKL5):c.1245_1246AG[1] (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_001323289.2(CDKL5):c.1311dup (p.Ser438fs) rs267608623
NM_001323289.2(CDKL5):c.1324C>T (p.Gln442Ter) rs587783151
NM_001323289.2(CDKL5):c.1341del (p.Phe447fs) rs786204968
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_001323289.2(CDKL5):c.1345_1363del (p.Glu449fs) rs587783113
NM_001323289.2(CDKL5):c.1354C>T (p.Gln452Ter)
NM_001323289.2(CDKL5):c.1365_1366insA (p.Gly456fs) rs886044424
NM_001323289.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_001323289.2(CDKL5):c.1417dup (p.Ile473fs) rs786204970
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)
NM_001323289.2(CDKL5):c.1432_1433insT (p.Arg478fs) rs786204971
NM_001323289.2(CDKL5):c.1449_1452dup (p.Lys485fs) rs1057519542
NM_001323289.2(CDKL5):c.145+2T>C rs267608430
NM_001323289.2(CDKL5):c.146-1G>A rs587783399
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1546del (p.Tyr516fs) rs1555952063
NM_001323289.2(CDKL5):c.1550del (p.Phe517fs) rs786204972
NM_001323289.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.1670C>G (p.Ser557Ter) rs587783145
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs) rs1555952101
NM_001323289.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1776_1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1777del (p.Ser593fs) rs1064793376
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.1795dup (p.Thr599fs) rs587783116
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.1854del (p.Asp618fs) rs786204975
NM_001323289.2(CDKL5):c.1885_1886dup (p.Leu629fs) rs587783117
NM_001323289.2(CDKL5):c.1891_1916del (p.Ile631fs) rs794727063
NM_001323289.2(CDKL5):c.1892_1893dup (p.Gly632Ter) rs267608646
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_001323289.2(CDKL5):c.1909del (p.Ala637fs) rs587783118
NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs) rs1569219844
NM_001323289.2(CDKL5):c.1942_1944+2delinsA rs1555952163
NM_001323289.2(CDKL5):c.1944+2T>G rs587783155
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_001323289.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2047-1G>A rs267608650
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2095G>T (p.Glu699Ter) rs886041673
NM_001323289.2(CDKL5):c.2103_2104AC[1] (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_001323289.2(CDKL5):c.212del (p.Asn71fs) rs886043296
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2148_2149del (p.Tyr716_Arg717delinsTer) rs587783119
NM_001323289.2(CDKL5):c.2152+1G>A rs1555952732
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_001323289.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2203_2204AG[1] (p.Arg735fs) rs587783120
NM_001323289.2(CDKL5):c.220G>T (p.Glu74Ter) rs587783073
NM_001323289.2(CDKL5):c.2231_2265del (p.Ser744fs) rs1064796503
NM_001323289.2(CDKL5):c.2254dup (p.Arg752fs) rs587783121
NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2276+1G>A
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.2305G>T (p.Glu769Ter) rs886041872
NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) rs267608654
NM_001323289.2(CDKL5):c.2323_2326del (p.Glu775fs) rs267608654
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_001323289.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_001323289.2(CDKL5):c.2360_2363del (p.Lys787fs) rs587783123
NM_001323289.2(CDKL5):c.2363_2367del (p.Lys788fs) rs267608655
NM_001323289.2(CDKL5):c.2376+1G>A rs267608656
NM_001323289.2(CDKL5):c.2376+1G>C rs267608656
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001323289.2(CDKL5):c.2469del (p.Glu824fs) rs587783124
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
NM_001323289.2(CDKL5):c.248del (p.Gly83fs) rs587783109
NM_001323289.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.250A>T (p.Lys84Ter) rs587783074
NM_001323289.2(CDKL5):c.2522dup (p.Leu842fs) rs886042014
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_001323289.2(CDKL5):c.2531dup (p.His844fs) rs786204980
NM_001323289.2(CDKL5):c.2549del (p.Asn850fs) rs587783125
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.258C>G (p.Tyr86Ter) rs1085307470
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2593_2616delinsG (p.Gln865fs) rs1555955237
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) rs587783126
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter) rs1057519541
NM_001323289.2(CDKL5):c.2671C>T (p.Gln891Ter) rs587783159
NM_001323289.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.282+2T>G rs587783075
NM_001323289.2(CDKL5):c.282+4del rs587783110
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.351T>A (p.Tyr117Ter) rs587783077
NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter) rs267608453
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.356T>G (p.Leu119Arg) rs587783078
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.383del (p.Lys128fs)
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)
NM_001323289.2(CDKL5):c.39del (p.Phe13fs) rs267608415
NM_001323289.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_001323289.2(CDKL5):c.403+1G>A rs786204984
NM_001323289.2(CDKL5):c.403+540_554+61del
NM_001323289.2(CDKL5):c.404-1G>A rs267608474
NM_001323289.2(CDKL5):c.404-1G>T rs267608474
NM_001323289.2(CDKL5):c.404-2A>G rs587783080
NM_001323289.2(CDKL5):c.413C>T (p.Pro138Leu) rs587783081
NM_001323289.2(CDKL5):c.419A>G (p.Asn140Ser) rs1057524663
NM_001323289.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)
NM_001323289.2(CDKL5):c.427dup (p.Ile143fs) rs1555949752
NM_001323289.2(CDKL5):c.449A>G (p.Lys150Arg) rs587783083
NM_001323289.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_001323289.2(CDKL5):c.463+1G>A rs267608479
NM_001323289.2(CDKL5):c.464-1G>A rs786204986
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.504_505CA[1] (p.Thr169fs) rs786204987
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.510_511dup (p.Tyr171fs) rs786204988
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_001323289.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
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.542A>C (p.Glu181Ala) rs587783085
NM_001323289.2(CDKL5):c.549_552del (p.Leu184fs) rs587783111
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs) rs267608497
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.555-2A>G rs1555950455
NM_001323289.2(CDKL5):c.577G>A (p.Asp193Asn) rs587783086
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_001323289.2(CDKL5):c.629del (p.Leu210fs) rs1555950470
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+2del rs267608419
NM_001323289.2(CDKL5):c.65-1G>A rs1555940533
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.660_664dup (p.Thr222fs) rs786204990
NM_001323289.2(CDKL5):c.663dup (p.Thr222fs)
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645
NM_001323289.2(CDKL5):c.693del (p.Ser232fs) rs886041764
NM_001323289.2(CDKL5):c.697G>T (p.Glu233Ter) rs1569215664
NM_001323289.2(CDKL5):c.700C>T (p.Gln234Ter) rs587783089
NM_001323289.2(CDKL5):c.713del (p.Phe238fs) rs1555950486
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.73G>A (p.Gly25Arg) rs587783130
NM_001323289.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) rs1555951141
NM_001323289.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_001323289.2(CDKL5):c.768dup (p.Ser257fs) rs1131691926
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.808dup (p.Leu270fs) rs587783112
NM_001323289.2(CDKL5):c.826-1G>C rs587783149
NM_001323289.2(CDKL5):c.838_847del (p.Asp281fs) rs61750250
NM_001323289.2(CDKL5):c.858C>A (p.Tyr286Ter) rs766511365
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs)
NM_001323289.2(CDKL5):c.900_901GA[3] (p.Leu302fs) rs267608546
NM_001323289.2(CDKL5):c.907_908insCC (p.Leu303fs)
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
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+1G>T rs267608421
NM_001323289.2(CDKL5):c.99+5G>A rs587783131
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-?_145+?del
NM_003159.2(CDKL5):c.-162-?_64+?del
NM_003159.2(CDKL5):c.-162-?_99+?del
NM_003159.2(CDKL5):c.-253_2276+?del
NM_003159.2(CDKL5):c.-253_64+?del
NM_003159.2(CDKL5):c.-253_825+?del
NM_003159.2(CDKL5):c.-253_977+?del
NM_003159.2(CDKL5):c.-253_99+?del
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.404-?_554+?del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.65dupG rs267608420
NM_003159.2(CDKL5):c.745-?_825+?del

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