ClinVar Miner

List of variants reported as pathogenic for CDKL5 disorder by RettBASE

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP
NM_003159.2(CDKL5):c.(?_-253)_(*85_?)del
NM_003159.2(CDKL5):c.-162-2A>G rs786204973
NM_003159.2(CDKL5):c.-162-?_*85del
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_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.1008_1029del22 (p.Ser337Argfs) rs786204964
NM_003159.2(CDKL5):c.1039C>T (p.Gln347Ter) rs267608561
NM_003159.2(CDKL5):c.1079delT (p.Leu360Profs) rs267608565
NM_003159.2(CDKL5):c.1082dupC (p.Ala362Cysfs) rs267608566
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.146-?_*85del
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.1675C>T (p.Arg559Ter) rs267608395
NM_003159.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_003159.2(CDKL5):c.1784dupG (p.Leu596Thrfs) rs786204974
NM_003159.2(CDKL5):c.183delT (p.Met63Cysfs) rs62643608
NM_003159.2(CDKL5):c.2016delC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2016dupC (p.Ser673Leufs) rs267608648
NM_003159.2(CDKL5):c.2066delC (p.Pro689Hisfs) rs267608651
NM_003159.2(CDKL5):c.207_213del7 (p.Glu70Leufs) rs786204977
NM_003159.2(CDKL5):c.2105_2106delAC (p.His702Profs) rs786204978
NM_003159.2(CDKL5):c.2277-2A>G rs786204979
NM_003159.2(CDKL5):c.229_232delGAAG (p.Glu77Hisfs) rs267608441
NM_003159.2(CDKL5):c.2325_2326delGA (p.Lys776Alafs) rs267608654
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.2377-?_*85del
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2494C>T (p.Gln832Ter) rs17857094
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.2504delC (p.Pro835Hisfs) rs267608660
NM_003159.2(CDKL5):c.2529delA (p.Leu843Phefs) rs267608661
NM_003159.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.275_276insAA (p.Glu93Metfs) rs786204982
NM_003159.2(CDKL5):c.283-3_290del11 rs786204983
NM_003159.2(CDKL5):c.39delT (p.Phe13Leufs) rs267608415
NM_003159.2(CDKL5):c.400C>T (p.Arg134Ter) rs267608472
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.425T>A (p.Leu142Ter) rs267608477
NM_003159.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
NM_003159.2(CDKL5):c.464-2A>G rs267608480
NM_003159.2(CDKL5):c.506_507delCA (p.Thr169Argfs) rs786204987
NM_003159.2(CDKL5):c.513C>A (p.Tyr171Ter) rs267608490
NM_003159.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
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.578A>G (p.Asp193Gly) rs267608500
NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_003159.2(CDKL5):c.64+2delT rs267608419
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.745-?_825+?del
NM_003159.2(CDKL5):c.801_802delTA (p.Asn267Lysfs) rs267608528
NM_003159.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_003159.2(CDKL5):c.867dupA (p.Gln290Thrfs) rs267608537
NM_003159.2(CDKL5):c.884delC (p.Pro295Leufs) rs267608542
NM_003159.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
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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