ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance 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: 50
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HGVS dbSNP
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=)
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.1177A>G (p.Thr393Ala)
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_003159.2(CDKL5):c.1600A>G (p.Arg534Gly)
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.1922G>T (p.Ser641Ile)
NM_003159.2(CDKL5):c.1948G>A (p.Gly650Arg)
NM_003159.2(CDKL5):c.2013C>T (p.Gly671=)
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2243A>C (p.Asn748Thr)
NM_003159.2(CDKL5):c.2272C>T (p.Pro758Ser)
NM_003159.2(CDKL5):c.2408C>T (p.Thr803Met)
NM_003159.2(CDKL5):c.2426A>G (p.His809Arg)
NM_003159.2(CDKL5):c.2444G>T (p.Ser815Ile)
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_003159.2(CDKL5):c.454T>C (p.Cys152Arg)
NM_003159.2(CDKL5):c.53T>A (p.Val18Asp)
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_003159.2(CDKL5):c.99+9A>G

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