ClinVar Miner

List of variants in gene CDKL5 reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
Download table as spreadsheet
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
NC_000023.10:g.(?_18582577)_(18600090_?)del
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
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.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs) rs267608662
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs) rs1555955290
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe) rs122460157
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.525A>T (p.Arg175Ser) rs61749700
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.549dup (p.Leu184fs) rs267608497
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.622C>T (p.Gln208Ter) rs587783405
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.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.868C>T (p.Gln290Ter) rs1569218019
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
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.1008_1029del (p.Ser337fs) rs786204964
NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_003159.2(CDKL5):c.1079del (p.Leu360fs) rs267608565
NM_003159.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_003159.2(CDKL5):c.1090G>T (p.Glu364Ter) rs786204966
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.125A>G (p.Lys42Arg) rs267608429
NM_003159.2(CDKL5):c.1311dup (p.Ser438fs) rs267608623
NM_003159.2(CDKL5):c.1341del (p.Phe447fs) rs786204968
NM_003159.2(CDKL5):c.1345G>T (p.Glu449Ter) rs1555952015
NM_003159.2(CDKL5):c.1345_1346del (p.Glu449fs) rs587783398
NM_003159.2(CDKL5):c.1375C>T (p.Gln459Ter) rs786204969
NM_003159.2(CDKL5):c.1417dup (p.Ile473fs) rs786204970
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.1550del (p.Phe517fs) rs786204972
NM_003159.2(CDKL5):c.163_166del (p.Glu55fs) rs267608433
NM_003159.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_003159.2(CDKL5):c.1684_1687del (p.Thr562fs) 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.1784dup (p.Leu596fs) rs786204974
NM_003159.2(CDKL5):c.1797dup (p.Ser600fs) rs587783401
NM_003159.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_003159.2(CDKL5):c.1854del (p.Asp618fs) rs786204975
NM_003159.2(CDKL5):c.1892_1893dup (p.Gly632Ter) rs267608646
NM_003159.2(CDKL5):c.1954C>T (p.Gln652Ter) rs267608647
NM_003159.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_003159.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_003159.2(CDKL5):c.2022del (p.Phe675fs) 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.2066del (p.Pro689fs) rs267608651
NM_003159.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_003159.2(CDKL5):c.2103_2104AC[1] (p.His702fs) rs786204978
NM_003159.2(CDKL5):c.215T>A (p.Ile72Asn) rs62641235
NM_003159.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) rs267608441
NM_003159.2(CDKL5):c.2277-2A>G rs786204979
NM_003159.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) rs267608654
NM_003159.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_003159.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_003159.2(CDKL5):c.2359_2363del (p.Lys787fs) rs1555954078
NM_003159.2(CDKL5):c.2363_2367del (p.Lys788fs) 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.244del (p.Arg82fs) rs1555949041
NM_003159.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_003159.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_003159.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
NM_003159.2(CDKL5):c.2596C>T (p.Gln866Ter) rs587783158
NM_003159.2(CDKL5):c.2704C>T (p.Gln902Ter) rs786204981
NM_003159.2(CDKL5):c.2713+108del
NM_003159.2(CDKL5):c.2713+3C>T rs863225289
NM_003159.2(CDKL5):c.275_276insAA (p.Glu93fs) rs786204982
NM_003159.2(CDKL5):c.283-3_290del rs786204983
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.39del (p.Phe13fs) 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.403+540_554+61del
NM_003159.2(CDKL5):c.404-1G>A rs267608474
NM_003159.2(CDKL5):c.404-1G>T rs267608474
NM_003159.2(CDKL5):c.404-?_554+?del
NM_003159.2(CDKL5):c.425T>A (p.Leu142Ter) rs267608477
NM_003159.2(CDKL5):c.453del (p.Cys152fs) rs1555949763
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.504_505CA[1] (p.Thr169fs) rs786204987
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.510_511dup (p.Tyr171fs) rs786204988
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.539C>T (p.Pro180Leu) rs61749704
NM_003159.2(CDKL5):c.607G>T (p.Glu203Ter) rs267608505
NM_003159.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_003159.2(CDKL5):c.64+2del rs267608419
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.Thr222fs) rs786204990
NM_003159.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.2(CDKL5):c.747dup (p.Pro250fs) rs875989880
NM_003159.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_003159.2(CDKL5):c.838_847del (p.Asp281fs) rs61750250
NM_003159.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_003159.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
NM_003159.2(CDKL5):c.942del (p.Lys314fs) rs786204992
NM_003159.2(CDKL5):c.964dup (p.Thr322fs) 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

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.