ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance for CDKL5 disorder

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NM_001323289.2(CDKL5):c.103A>C (p.Thr35Pro)
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile)
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp)
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly) rs749639424
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153
NM_001323289.2(CDKL5):c.1673G>A (p.Arg558His)
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.1909G>C (p.Ala637Pro)
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile) rs1602287027
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg) rs1602289171
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2066C>T (p.Pro689Leu)
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala)
NM_001323289.2(CDKL5):c.2152+5G>T
NM_001323289.2(CDKL5):c.2153-64_2153-5delinsG
NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu)
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser) rs1210870589
NM_001323289.2(CDKL5):c.2376+4dup
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His)
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2437A>G (p.Thr813Ala)
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile) rs1449425691
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys)
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.2682dup (p.Pro895fs)
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp)
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.375G>C (p.Trp125Cys)
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser)
NM_001323289.2(CDKL5):c.398A>C (p.His133Pro)
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp) rs1602230515
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.680T>C (p.Leu227Pro)
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=)
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_001323289.2(CDKL5):c.99+9A>G rs1602233003

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