ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 241
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HGVS dbSNP
CDKL5, 1-BP DEL, 183T
CDKL5, 2-BP DEL, 2636CT
CDKL5, 2-BP INS, 903GA
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_000023.11:g.(?_18564457)_(18581970_?)del
NC_000023.11:g.(?_18625128)_(18628587_?)del
NM_001037343.1(CDKL5):c.2450_2457del (p.Pro818Valfs) rs1555954737
NM_001323289.1(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.1(CDKL5):c.2828_2829delGA (p.Arg943Asnfs) rs1555955290
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.(?_-253)_-162-27968del
NM_003159.2(CDKL5):c.-162-2A>G rs786204973
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.100-2A>G rs267608423
NM_003159.2(CDKL5):c.100-?_145+?del
NM_003159.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_003159.2(CDKL5):c.1007_1014delAGTCTCAC (p.Gln336Profs) rs1064793381
NM_003159.2(CDKL5):c.1008_1029del22 (p.Ser337Argfs) rs786204964
NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_003159.2(CDKL5):c.1071delC (p.Asp357Glufs) rs786204965
NM_003159.2(CDKL5):c.1079delT (p.Leu360Profs) rs267608565
NM_003159.2(CDKL5):c.1082dupC (p.Ala362Cysfs) rs267608566
NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
NM_003159.2(CDKL5):c.1107_1120del14 (p.Asn370Terfs) rs1555951954
NM_003159.2(CDKL5):c.1108_1109dupAA (p.Asn370Lysfs) rs886043742
NM_003159.2(CDKL5):c.1111delC (p.Ala372Leufs) rs1555951958
NM_003159.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_003159.2(CDKL5):c.1165C>T (p.Gln389Ter)
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.1211_1212dupAC (p.Leu405Thrfs) rs1555951981
NM_003159.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_003159.2(CDKL5):c.1247_1248delAG (p.Glu416Valfs) rs786204967
NM_003159.2(CDKL5):c.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1311dupC (p.Ser438Glnfs) rs267608623
NM_003159.2(CDKL5):c.1324C>T (p.Gln442Ter) rs587783151
NM_003159.2(CDKL5):c.1341delC (p.Phe447Leufs) rs786204968
NM_003159.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_003159.2(CDKL5):c.1345_1346del (p.Glu449Lysfs) rs587783398
NM_003159.2(CDKL5):c.1345_1363delGAAAGCTCTCAAAGCAAAG (p.Glu449Leufs) rs587783113
NM_003159.2(CDKL5):c.1365_1366insA (p.Gly456Argfs) rs886044424
NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_003159.2(CDKL5):c.1417dupA (p.Ile473Asnfs) rs786204970
NM_003159.2(CDKL5):c.1432_1433insT (p.Arg478Metfs) rs786204971
NM_003159.2(CDKL5):c.1449_1452dup (p.Lys485Aspfs) rs1057519542
NM_003159.2(CDKL5):c.145+2T>C rs267608430
NM_003159.2(CDKL5):c.146-1G>A rs587783399
NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_003159.2(CDKL5):c.1546delT (p.Tyr516Thrfs) rs1555952063
NM_003159.2(CDKL5):c.1550delT (p.Phe517Serfs) rs786204972
NM_003159.2(CDKL5):c.1553delC (p.Pro518Hisfs) rs886042899
NM_003159.2(CDKL5):c.163_166delGAAA (p.Glu55Argfs) rs267608433
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.1671_1672insA (p.Arg558Thrfs) rs587783115
NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_003159.2(CDKL5):c.1684_1687del (p.Thr562Aspfs) rs1555952101
NM_003159.2(CDKL5):c.1708G>T (p.Glu570Ter) rs267608644
NM_003159.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_003159.2(CDKL5):c.1776_1777delTT (p.Ser593Leufs) rs1064793376
NM_003159.2(CDKL5):c.1777delT (p.Ser593Leufs) rs1064793376
NM_003159.2(CDKL5):c.1784dupG (p.Leu596Thrfs) rs786204974
NM_003159.2(CDKL5):c.1795_1796insA (p.Thr599Asnfs) rs587783116
NM_003159.2(CDKL5):c.1797dup (p.Ser600Glnfs) rs587783401
NM_003159.2(CDKL5):c.183delT (p.Met63Cysfs) rs62643608
NM_003159.2(CDKL5):c.1854delC (p.Asp618Glufs) rs786204975
NM_003159.2(CDKL5):c.1886_1887insTT (p.Leu629Phefs) rs587783117
NM_003159.2(CDKL5):c.1891_1916del26 (p.Ile631Glnfs) rs794727063
NM_003159.2(CDKL5):c.1892_1893dupTA (p.Gly632Terfs) rs267608646
NM_003159.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_003159.2(CDKL5):c.1909delG (p.Ala637Leufs) rs587783118
NM_003159.2(CDKL5):c.1921_1922del (p.Ser641Profs)
NM_003159.2(CDKL5):c.1942_1944+2delCAGGTinsA rs1555952163
NM_003159.2(CDKL5):c.1944+2T>G rs587783155
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.200_201delTC (p.Leu67Glnfs) rs1555949011
NM_003159.2(CDKL5):c.2016delC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2016dupC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2022delC (p.Phe675Serfs) rs1060501860
NM_003159.2(CDKL5):c.2045_2046delAGins18 (p.?)
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.2047-1G>A rs267608650
NM_003159.2(CDKL5):c.2066delC (p.Pro689Hisfs) rs267608651
NM_003159.2(CDKL5):c.207_213del7 (p.Glu70Leufs) rs786204977
NM_003159.2(CDKL5):c.2095G>T (p.Glu699Ter) rs886041673
NM_003159.2(CDKL5):c.2105_2106delAC (p.His702Profs) rs786204978
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.212delA (p.Asn71Thrfs) rs886043296
NM_003159.2(CDKL5):c.2142delC (p.Tyr716Thrfs)
NM_003159.2(CDKL5):c.2148_2149delCA (p.Tyr716Terfs) rs587783119
NM_003159.2(CDKL5):c.2152+1G>A rs1555952732
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_003159.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_003159.2(CDKL5):c.2205_2206delAG (p.Arg735Serfs) rs587783120
NM_003159.2(CDKL5):c.220G>T (p.Glu74Ter) rs587783073
NM_003159.2(CDKL5):c.2231_2265del35 (p.Ser744Ilefs) rs1064796503
NM_003159.2(CDKL5):c.2254_2255insA (p.Arg752Lysfs) rs587783121
NM_003159.2(CDKL5):c.2277-2A>G rs786204979
NM_003159.2(CDKL5):c.229_232delGAAG (p.Glu77Hisfs) rs267608441
NM_003159.2(CDKL5):c.2305G>T (p.Glu769Ter) rs886041872
NM_003159.2(CDKL5):c.2323_2326delGAGA (p.Glu775Serfs) rs267608654
NM_003159.2(CDKL5):c.2325_2326delGA (p.Lys776Alafs) rs267608654
NM_003159.2(CDKL5):c.2343delG (p.Arg781Serfs) rs62643614
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2359_2363del (p.Lys787Glufs) rs1555954078
NM_003159.2(CDKL5):c.2360_2363delAGAA (p.Lys787Argfs) rs587783123
NM_003159.2(CDKL5):c.2363_2367delAGAAA (p.Lys788Ilefs) rs267608655
NM_003159.2(CDKL5):c.2376+1G>A rs267608656
NM_003159.2(CDKL5):c.2376+1G>C rs267608656
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.244delA (p.Arg82Glyfs) rs1555949041
NM_003159.2(CDKL5):c.2469delC (p.Glu824Argfs) rs587783124
NM_003159.2(CDKL5):c.248delG (p.Gly83Glufs) rs587783109
NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_003159.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_003159.2(CDKL5):c.2504delC (p.Pro835Hisfs) rs267608660
NM_003159.2(CDKL5):c.250A>T (p.Lys84Ter) rs587783074
NM_003159.2(CDKL5):c.2522dupA (p.Leu842Valfs) rs886042014
NM_003159.2(CDKL5):c.2529delA (p.Leu843Phefs) rs267608661
NM_003159.2(CDKL5):c.2531dupA (p.His844Glnfs) rs786204980
NM_003159.2(CDKL5):c.2549delA (p.Asn850Ilefs) rs587783125
NM_003159.2(CDKL5):c.2572delC (p.Arg858Alafs) rs267608662
NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter) rs1085307470
NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_003159.2(CDKL5):c.2593_2616del24insG (p.Gln865Glyfs) rs1555955237
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.2608_2609insT (p.Ser870Phefs) rs587783126
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.2641C>T (p.Gln881Ter) rs1057519541
NM_003159.2(CDKL5):c.2671C>T (p.Gln891Ter) rs587783159
NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_003159.2(CDKL5):c.2713+129C>T rs1555955296
NM_003159.2(CDKL5):c.275_276insAA (p.Glu93Metfs) rs786204982
NM_003159.2(CDKL5):c.282+1G>T
NM_003159.2(CDKL5):c.282+2T>G rs587783075
NM_003159.2(CDKL5):c.282+4delA rs587783110
NM_003159.2(CDKL5):c.283-3_290del11 rs786204983
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.353A>G (p.Gln118Arg) rs863225290
NM_003159.2(CDKL5):c.356T>G (p.Leu119Arg) rs587783078
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.39delT (p.Phe13Leufs) rs267608415
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
NM_003159.2(CDKL5):c.403+1G>A rs786204984
NM_003159.2(CDKL5):c.404-1385_554+59del
NM_003159.2(CDKL5):c.404-1G>A rs267608474
NM_003159.2(CDKL5):c.404-1G>T rs267608474
NM_003159.2(CDKL5):c.404-2A>G rs587783080
NM_003159.2(CDKL5):c.404-?_554+?del
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.425T>A (p.Leu142Ter) rs267608477
NM_003159.2(CDKL5):c.427dup (p.Ile143Asnfs) rs1555949752
NM_003159.2(CDKL5):c.449A>G (p.Lys150Arg) rs587783083
NM_003159.2(CDKL5):c.453delG (p.Cys152Valfs) rs1555949763
NM_003159.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_003159.2(CDKL5):c.463+1G>A rs267608479
NM_003159.2(CDKL5):c.464-1G>A rs786204986
NM_003159.2(CDKL5):c.464-2A>G rs267608480
NM_003159.2(CDKL5):c.506_507delCA (p.Thr169Argfs) rs786204987
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.510_511dup (p.Tyr171Cysfs) rs786204988
NM_003159.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_003159.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_003159.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
NM_003159.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
NM_003159.2(CDKL5):c.528G>T (p.Trp176Cys) rs786204989
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_003159.2(CDKL5):c.533G>C (p.Arg178Pro) rs267606715
NM_003159.2(CDKL5):c.539C>T (p.Pro180Leu) rs61749704
NM_003159.2(CDKL5):c.542A>C (p.Glu181Ala) rs587783085
NM_003159.2(CDKL5):c.549_552delACTT (p.Leu184Alafs) rs587783111
NM_003159.2(CDKL5):c.549dupA (p.Leu184Thrfs) rs267608497
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.578A>G (p.Asp193Gly) rs267608500
NM_003159.2(CDKL5):c.583T>G (p.Trp195Gly)
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_003159.2(CDKL5):c.614_617dup (p.Asp206Glufs) rs1555950465
NM_003159.2(CDKL5):c.622C>T (p.Gln208Ter) rs587783405
NM_003159.2(CDKL5):c.629delT (p.Leu210Tyrfs) rs1555950470
NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_003159.2(CDKL5):c.638G>A (p.Gly213Glu)
NM_003159.2(CDKL5):c.64+2delT rs267608419
NM_003159.2(CDKL5):c.65-1G>A rs1555940533
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.65dupG (p.Ala23Serfs) rs267608420
NM_003159.2(CDKL5):c.660_664dup (p.Thr222Ilefs) rs786204990
NM_003159.2(CDKL5):c.666delT (p.Ile223Phefs)
NM_003159.2(CDKL5):c.693delA (p.Ser232Leufs) rs886041764
NM_003159.2(CDKL5):c.697G>T (p.Glu233Ter)
NM_003159.2(CDKL5):c.700C>T (p.Gln234Ter) rs587783089
NM_003159.2(CDKL5):c.713delT (p.Phe238Serfs) rs1555950486
NM_003159.2(CDKL5):c.725delC (p.Pro242Leufs) rs1555950494
NM_003159.2(CDKL5):c.73G>A (p.Gly25Arg) rs587783130
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.2(CDKL5):c.747dupT (p.Pro250Serfs) rs875989880
NM_003159.2(CDKL5):c.751delGinsTC (p.Ala251Serfs) rs1555951141
NM_003159.2(CDKL5):c.766C>T (p.Gln256Ter) rs1555951142
NM_003159.2(CDKL5):c.768dup (p.Ser257Valfs) rs1131691926
NM_003159.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_003159.2(CDKL5):c.801_802delTA (p.Asn267Lysfs) rs267608528
NM_003159.2(CDKL5):c.808_809insC (p.Leu270Profs) rs587783112
NM_003159.2(CDKL5):c.826-1G>C rs587783149
NM_003159.2(CDKL5):c.838_847del10 (p.Asp281Thrfs) rs61750250
NM_003159.2(CDKL5):c.858C>A (p.Tyr286Ter) rs766511365
NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_003159.2(CDKL5):c.867dupA (p.Gln290Thrfs) rs267608537
NM_003159.2(CDKL5):c.868C>T (p.Gln290Ter)
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.884delC (p.Pro295Leufs) rs267608542
NM_003159.2(CDKL5):c.902_903dupGA (p.Leu302Aspfs) rs267608546
NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_003159.2(CDKL5):c.942delA (p.Lys314Asnfs) rs786204992
NM_003159.2(CDKL5):c.964dupA (p.Thr322Asnfs) rs267608552
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

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