ClinVar Miner

List of variants reported as pathogenic for Early infantile epileptic encephalopathy 2 by RettBASE

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Total variants: 75
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HGVS dbSNP
NM_001323289.2(CDKL5):c.-162-2A>G rs786204973
NM_001323289.2(CDKL5):c.100-2A>G rs267608423
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.1079del (p.Leu360fs) rs267608565
NM_001323289.2(CDKL5):c.1082dup (p.Ala362fs) rs267608566
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.1238C>G (p.Ser413Ter) rs267608618
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.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter) rs62653623
NM_001323289.2(CDKL5):c.1784dup (p.Leu596fs) rs786204974
NM_001323289.2(CDKL5):c.183del (p.Met63fs) rs62643608
NM_001323289.2(CDKL5):c.2016del (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2016dup (p.Ser673fs) rs267608648
NM_001323289.2(CDKL5):c.2066del (p.Pro689fs) rs267608651
NM_001323289.2(CDKL5):c.207_213del (p.Glu70fs) rs786204977
NM_001323289.2(CDKL5):c.2103_2104AC[1] (p.His702fs) rs786204978
NM_001323289.2(CDKL5):c.225_228GAAG[1] (p.Glu77fs) rs267608441
NM_001323289.2(CDKL5):c.2277-2A>G rs786204979
NM_001323289.2(CDKL5):c.2323_2324GA[1] (p.Lys776fs) rs267608654
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.2494C>T (p.Gln832Ter) rs17857094
NM_001323289.2(CDKL5):c.2504del (p.Pro835fs) rs267608660
NM_001323289.2(CDKL5):c.2529del (p.Leu843fs) rs267608661
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.275_276insAA (p.Glu93fs) rs786204982
NM_001323289.2(CDKL5):c.283-3_290del rs786204983
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+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.425T>A (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.458A>G (p.Asp153Gly) rs786204985
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.513C>A (p.Tyr171Ter) rs267608490
NM_001323289.2(CDKL5):c.526T>G (p.Trp176Gly) rs587783084
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.578A>G (p.Asp193Gly) rs267608500
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.64+2del rs267608419
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.801_802del (p.Asn267fs) rs267608528
NM_001323289.2(CDKL5):c.863C>T (p.Thr288Ile) rs267606713
NM_001323289.2(CDKL5):c.867dup (p.Gln290fs) rs267608537
NM_001323289.2(CDKL5):c.884del (p.Pro295fs) rs267608542
NM_001323289.2(CDKL5):c.91A>G (p.Arg31Gly) rs786204991
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.-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-?_145+?del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.65-?_99+?del
NM_003159.2(CDKL5):c.745-?_825+?del

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