All variants in the CDKL5 gene

Information The variants shown are described using the NM_003159.2 transcript reference sequence.

838 entries on 9 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.? r.? p.? - VUS g.? - - - USP9X_000005 - PubMed: Sanchis-Juan 2018 - - De novo - - - - - Johan den Dunnen
-/. - c.-163+16516G>C r.(=) p.(=) - benign g.18460331G>C g.18442211G>C - - CDKL5_000082 Seg.analysis - - - Germline - - - - - Andreas Laner
-/. - c.-162-5T>C r.spl? p.? - benign g.18525050T>C g.18506930T>C CDKL5(NM_001037343.1):c.-162-5T>C - CDKL5_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1i c.-162-?_99+?del r.-162_99del p.0? - pathogenic g.21857692_21861312del g.21839574_21843194del delex1-2 - CDKL5_000041 - PubMed: Russo 2009 - - Germline - - - - - Emmelien Aten
+/. 19i_ c.(2797+1243_2798-1)_*85{0} r.? p.? - pathogenic (recessive) g.(18665453_18674772)_(18779695_18797127)del g.(18647333_18656652)_(18761577_18779009)del - - RS1_000123 136 kb deletion from PPEF intron 9 to RS1 intron 3 also involving CDKL5 (STK9) PubMed: Huopaniemi - - Germline yes - - - - Johan den Dunnen
?/. 11i c.978--42_978-50del r.(spl?) p.? - VUS g.? - IVS11-42_50del9bp - CDKL5_000027 unclassified variant PubMed: Archer 2006 - - Germline - - - - - Emmelien Aten
+?/. - c.59G>A r.(?) p.(Gly20Asp) - likely pathogenic g.18525275G>A g.18507155G>A - - CDKL5_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2i c.64+2del r.spl? p.? - pathogenic g.18525282del g.18507162del - - CDKL5_000009 - PubMed: Bahi-Buisson - - Germline - - - - - Emmelien Aten
-/. - c.65-86A>G r.(=) p.(=) - benign g.18528854A>G g.18510734A>G CDKL5(NM_001037343.1):c.65-86A>G - CDKL5_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.71A>G r.(?) p.(Tyr24Cys) - likely pathogenic g.18528946A>G - - - RS1_000414 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.93A>G r.(?) p.(Arg31=) - likely benign g.18528968A>G - CDKL5(NM_001323289.1):c.93A>G (p.R31=) - RS1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.99+7A>G r.(=) p.(=) - likely benign g.18528981A>G g.18510861A>G CDKL5(NM_001037343.1):c.99+7A>G (p.(=)) - RS1_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3i c.99+29T>G r.(=) p.(=) - benign g.21861340T>G g.21843222T>G - - CDKL5_000063 - PubMed: Russo 2009 - - Germline - - - - - Emmelien Aten
-?/. - c.100-7C>T r.(=) p.(=) - likely benign g.18582590C>T g.18564470C>T CDKL5(NM_001037343.1):c.100-7C>T, CDKL5(NM_003159.3):c.100-7C>T - CDKL5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.100-7C>T r.(=) p.(=) - likely benign g.18582590C>T g.18564470C>T CDKL5(NM_001037343.1):c.100-7C>T, CDKL5(NM_003159.3):c.100-7C>T - CDKL5_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. - c.104C>T r.(?) p.(Thr35Ile) - pathogenic g.18582601C>T g.18564481C>T - - CDKL5_000088 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. - c.119C>A r.(?) p.(Ala40Glu) ACMG likely pathogenic g.18582616C>A g.18564496C>A - - CDKL5_000089 - PubMed: Trujillano 2017 - - De novo - - - - - Daniel Trujillano
+/. 4 c.119C>T r.(?) p.(Ala40Val) - pathogenic g.18582616C>T g.18564496C>T - - CDKL5_000008 expression cloning protein mislocalized cytoplasm, does not reach nucleus PubMed: Rosas-Vargas 2008; OMIM:var0009 - - Germline - - - - - Emmelien Aten
+/. 4 c.119C>T r.(?) p.(Ala40Val) - pathogenic g.18582616C>T g.18564496C>T - - CDKL5_000008 - PubMed: Rosas-Vargas 2008; OMIM:var0009 - - Germline - - - - - Emmelien Aten
+/. 4 c.119C>T r.(?) p.(Ala40Val) - pathogenic g.18582616C>T g.18564496C>T - - CDKL5_000008 - PubMed: Rosas-Vargas 2008; OMIM:var0009 - - Germline - - - - - Emmelien Aten
+?/. - c.119C>T r.(?) p.(Ala40Val) ACMG likely pathogenic g.18582616C>T g.18564496C>T - - CDKL5_000008 ACMG PS1, PM1, PM2, PP2, PP3 PubMed: Johannesen 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.145G>A r.(?) p.(Glu49Lys) - VUS g.18582642G>A g.18564522G>A - - CDKL5_000085 - - - - Germline - - - - - Andreas Laner
+/. 4i c.145+2T>C r.100_145del p.Glu34Lysfs*60 - pathogenic g.18582644T>C g.18564524T>C - - CDKL5_000042 - PubMed: Russo 2009 - - De novo - - - - - Emmelien Aten
-/. 4i c.145+17A>G r.(?) p.(=) - benign g.18582659A>G g.18564539A>G 144+17A>G - CDKL5_000012 conserved haplotype 1/32 patients, 2/267 control X-chromosomes PubMed: Tao 2004 - - Germline - - - - - Emmelien Aten
-/. 4i c.145+17A>G r.(=) p.(=) - benign g.18582659A>G g.18564539A>G 144+17A>G - CDKL5_000012 - - - - Germline - - - - - Birgit Neitzel
-?/. - c.145+17A>G r.(=) p.(=) - likely benign g.18582659A>G g.18564539A>G CDKL5(NM_003159.2):c.145+17A>G, CDKL5(NM_003159.3):c.145+17A>G - CDKL5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.145+17A>G r.(=) p.(=) - benign g.18582659A>G g.18564539A>G CDKL5(NM_003159.2):c.145+17A>G, CDKL5(NM_003159.3):c.145+17A>G - CDKL5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.145+25_145+28del r.(=) p.(=) - likely benign g.18582667_18582670del - CDKL5(NM_003159.3):c.145+25_145+28delATAT - RS1_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 4i c.145+27_145+28del r.(=) p.(=) - benign g.21861384_21861385del g.21843266_21843267del 145+28ins/delAT - CDKL5_000059 - PubMed: Russo 2009 - - Germline - - - - - Emmelien Aten
?/. 4i c.145+27_145+28del r.(?) p.(=) - VUS g.21861384_21861385del g.21843266_21843267del 145+27_28delAT - CDKL5_000059 unclassified variant - - - Germline - - - - - Birgit Neitzel
?/. 4i c.145+27_145+28del r.(?) p.(=) - VUS g.21861384_21861385del g.21843266_21843267del 145+27_28delAT - CDKL5_000059 unclassified variant - - - Germline - - - - - Birgit Neitzel
?/. 4i c.145+27_145+28del r.(?) p.(=) - VUS g.21861384_21861385del g.21843266_21843267del 145+27_28delAT - CDKL5_000059 unclassified variant - - - Germline - - - - - Birgit Neitzel
?/. 4i c.145+27_145+28del r.(?) p.(=) - VUS g.21861384_21861385del g.21843266_21843267del 145+27_28delAT - CDKL5_000059 unclassified variant - - - Germline - - - - - Birgit Neitzel
-/. - c.145+27_145+28del r.(=) p.(=) - benign g.18582669_18582670del g.18564549_18564550del CDKL5(NM_003159.2):c.145+27_145+28delAT, CDKL5(NM_003159.3):c.145+27_145+28delAT - CDKL5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.145+27_145+28del r.(=) p.(=) - benign g.18582669_18582670del - CDKL5(NM_003159.2):c.145+27_145+28delAT, CDKL5(NM_003159.3):c.145+27_145+28delAT - CDKL5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.145+27_145+28dup r.(=) p.(=) - likely benign g.18582669_18582670dup g.18564549_18564550dup CDKL5(NM_001037343.1):c.145+27_145+28dupAT - RS1_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.146-1G>A r.spl? p.? - pathogenic g.18593473G>A g.18575353G>A - - CDKL5_000135 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783399 Germline - 1/2792 individuals - - - Mohammed Faruq
+/. 5 c.163_166del r.(?) p.(fs*) - pathogenic g.21861375_21861378del g.21843257_21843260del 163_166delGAAA - CDKL5_000057 - PubMed: Scala 2005; OMIM:var0005 - - Germline - - - - - Emmelien Aten
+/. 5 c.175C>T r.(?) p.(R59*) - pathogenic g.21861387C>T g.21843269C>T - - CDKL5_000046 - PubMed: Archer 2006 - - Germline - - - - - Emmelien Aten
+?/. 5 c.176G>C r.(?) p.(Arg59Pro) - likely pathogenic g.18593504G>C g.18575384G>C - - CDKL5_000090 - - - - Germline ? - - - - Iria Otera
+?/. - c.178G>A r.(?) p.(Glu60Lys) ACMG likely pathogenic g.18593506G>A g.18575386G>A - - CDKL5_000151 - - - - De novo - - - - - Andrea Soltysova
-?/. - c.180G>A r.(?) p.(Glu60=) - likely benign g.18593508G>A - CDKL5(NM_001323289.1):c.180G>A (p.E60=) - RS1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 5 c.183delT r.(?) p.(fs*) - pathogenic g.21861396del g.21843278del - - CDKL5_000010 - PubMed: Weaving 2004; OMIM:var0001 - - Germline - - - - - Emmelien Aten
+/. 5 c.183delT r.(?) p.(fs*) - pathogenic g.21861396del g.21843278del - - CDKL5_000010 - PubMed: Weaving 2004; OMIM:var0001 - - Germline - - - - - Emmelien Aten
+/. 5 c.183delT r.(?) p.(fs*) - pathogenic g.21861396del g.21843278del - - CDKL5_000010 - PubMed: Weaving 2004; OMIM:var0001 - - Germline - - - - - Emmelien Aten
+/. 5 c.194G>A r.(?) p.(R65Q) - pathogenic g.21861406G>A g.21843288G>A - - CDKL5_000011 - PubMed: Rosas-Vargas 2008 - - Germline - - - - - Emmelien Aten
?/. - c.194G>A r.(?) p.(Arg65Gln) - VUS g.18593522G>A g.18575402G>A CDKL5(NM_001323289.2):c.194G>A (p.R65Q) - CDKL5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 5 c.215T>A r.(?) p.(I72N) - pathogenic g.21861427T>A g.21843309T>A - - CDKL5_000064 - PubMed: Evans - - Germline - - - - - Emmelien Aten
+/. 5 c.215T>C r.215u>c p.Ile72Thr - pathogenic g.21861427T>C g.21843309T>C - - CDKL5_000043 - PubMed: Russo 2009 - - De novo - - - - - Emmelien Aten
+/. 5 c.215T>C r.(?) p.(I72T) - pathogenic g.21861427T>C g.21843309T>C - - CDKL5_000043 - PubMed: Saletti; OMIM:var0010 - - De novo - - - - - Emmelien Aten
+/. 5 c.216T>A r.(?) p.(I72I) - pathogenic g.21861428T>A g.21843310T>A - - CDKL5_000013 - PubMed: Li - - Germline - - - - - Emmelien Aten
+/. - c.220G>T r.(?) p.(Glu74*) - pathogenic g.18593548G>T g.18575428G>T - - CDKL5_000136 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783073 Germline - 1/2794 individuals - - - Mohammed Faruq
+/. 5 c.229_232del r.(?) p.(Glu77HisfsTer35) - pathogenic g.18593557_18593560del g.18575437_18575440del - - CDKL5_000014 - PubMed: Bahi-Buisson - - Germline - - - - - Emmelien Aten
?/. - c.239G>T r.(?) p.(Arg80Leu) - VUS g.18593567G>T g.18575447G>T CDKL5(NM_001037343.1):c.239G>T (p.(Arg80Leu)) - CDKL5_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.250A>T r.(?) p.(Lys84*) - pathogenic g.18593578A>T g.18575458A>T - - CDKL5_000137 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783074 Germline - 1/2767 individuals - - - Mohammed Faruq
+/. - c.277G>T r.(?) p.(Glu93Ter) - pathogenic g.18593605G>T g.18575485G>T CDKL5(NM_003159.3):c.277G>T (p.E93*) - RS1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.282+2T>G r.spl? p.? - pathogenic g.18593612T>G g.18575492T>G - - CDKL5_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.282+3_282+6del r.spl? p.? - pathogenic g.18593613_18593616del g.18575493_18575496del - - CDKL5_000133 - PubMed: Papuc 2019 - - De novo - - - - - Anaïs Begemann
-?/. - c.282+19A>G r.(=) p.(=) - likely benign g.18593629A>G g.18575509A>G CDKL5(NM_001037343.1):c.282+19A>G - CDKL5_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.283-103del r.(=) p.(=) - benign g.18597865del g.18579745del CDKL5(NM_001037343.1):c.283-103delA - CDKL5_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.283-14T>C r.(=) p.(=) - likely benign g.18597954T>C - CDKL5(NM_001323289.2):c.283-14T>C - RS1_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 6 c.352C>T r.(?) p.(Q118*) - pathogenic g.18598037C>T g.18579917C>T - - CDKL5_000015 - PubMed: Bahi-Buisson - - Germline - - - - - Emmelien Aten
+/. - c.358_367del r.(?) p.(Ile120PhefsTer14) - pathogenic g.18598043_18598052del g.18579923_18579932del - - CDKL5_000158 - - - - Unknown - - - - - IMGAG
+/. - c.374G>A r.(?) p.(Trp125*) ACMG pathogenic g.18598059G>A g.18579939G>A - - CDKL5_000152 - - - - De novo - - - - - Andrea Soltysova
+/. 6 c.380A>G r.(?) p.(His127Arg) - pathogenic g.18598065A>G g.18579945A>G - - CDKL5_000016 - PubMed: Russo 2009 - - Somatic - - - - - Emmelien Aten
+/. - c.389A>T r.(?) p.(Asp130Val) - pathogenic g.18598074A>T g.18579954A>T - - CDKL5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.400C>T r.(?) p.(Arg134*) - pathogenic g.18598085C>T g.18579965C>T - - CDKL5_000138 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267608472 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.400C>T r.(?) p.(Arg134*) ACMG pathogenic g.18598085C>T - C400T (R134X) - CDKL5_000138 - PubMed: Halvardson 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.403+1G>T r.spl? p.? - pathogenic g.18598089G>T g.18579969G>T CDKL5(NM_003159.3):c.403+1G>T - CDKL5_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 6i c.404-53C>T r.(=) p.(=) - benign g.21863415C>T - - - CDKL5_000017 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Russo 2009 - - Germline - - - - - Emmelien Aten
-/. - c.404-16del r.(=) p.(=) - benign g.18599995del g.18581875del CDKL5(NM_001037343.1):c.404-16delT - CDKL5_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.404-6C>G r.(=) p.(=) - likely pathogenic g.18600005C>G - - - RS1_000415 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.404-3C>A r.spl? p.? - likely pathogenic g.18600008C>A g.18581888C>A - - CDKL5_000139 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783079 Germline - 1/2773 individuals - - - Mohammed Faruq
+/. - c.404-2A>G r.spl? p.? - pathogenic g.18600009A>G g.18581889A>G - - CDKL5_000140 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783080 Germline - 2/2747 individuals - - - Mohammed Faruq
+/. 6i c.404-1G>T r.spl? p.? - pathogenic g.18600010G>T g.18581890G>T IVS6-1G>T - CDKL5_000050 - PubMed: Archer 2006; OMIM:var0008 - - Germline - - - - - Emmelien Aten
+/. 7 c.425T>A r.(?) p.(L142*) - pathogenic g.21863489T>A g.21845371T>A - - CDKL5_000018 - PubMed: Bahi-Buisson - - Germline - - - - - Emmelien Aten
?/. - c.431G>T r.(?) p.(Ser144Ile) - VUS g.18600038G>T g.18581918G>T - - CDKL5_000086 - - - - Germline - - - - - Andreas Laner
+/. - c.433C>T r.(?) p.(His145Tyr) - pathogenic (dominant) g.18600040C>T g.18581920C>T - - CDKL5_000142 - PubMed: Carvill 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.436A>C r.(?) p.(Asn146His) - VUS g.18600043A>C g.18581923A>C CDKL5(NM_003159.3):c.436A>C (p.N146H) - RS1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.449A>G r.(?) p.(Lys150Arg) - VUS g.18600056A>G g.18581936A>G - - CDKL5_000087 Polyphen: possibly damaging (PSIC:0,572) - - - Germline - - - - - Andreas Laner
+/. - c.449A>G r.(?) p.(Lys150Arg) - pathogenic g.18600056A>G g.18581936A>G - - CDKL5_000087 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783083 Germline - 1/2720 individuals - - - Mohammed Faruq
+?/. - c.450A>C r.(?) p.(Lys150Asn) ACMG likely pathogenic g.18600057A>C g.18581937A>C - - CDKL5_000150 ACMG PM1, PM2, PM5, PP2, PP3 PubMed: Johannesen 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 7 c.455G>T r.(?) p.(C152F) - pathogenic g.18600062G>T g.18581942G>T - - CDKL5_000006 - - - rs61748405 Germline - - - - - Emmelien Aten
+/. 7 c.455G>T r.(?) p.(C152F) - pathogenic g.18600062G>T g.18581942G>T - - CDKL5_000006 - PubMed: Tao 2004; OMIM:var0003 - - Germline - - - - - Emmelien Aten
?/. - c.464-81T>C r.(=) p.(=) - VUS g.18602302T>C g.18584182T>C - - CDKL5_000083 - - - - Germline - - - - - Andreas Laner
-?/. - c.464-9A>G r.(=) p.(=) - likely benign g.18602374A>G g.18584254A>G CDKL5(NM_001323289.1):c.464-9A>G - RS1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.464-2A>G r.spl p.? - pathogenic (dominant) g.18602381A>G g.18584261A>G - - CDKL5_000143 - PubMed: Carvill 2013 - - De novo - - - - - Johan den Dunnen
+/. - c.464-1G>A r.spl? p.? - pathogenic g.18602382G>A g.18584262G>A - - CDKL5_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.464G>A r.(?) p.(Gly155Asp) - VUS g.18602383G>A g.18584263G>A - - CDKL5_000084 PolyPhen-2: prob.dam. 1,00 / Mut.Tast: disease causing / loss of 5'-splice site) - - - Germline - - - - - Andreas Laner
+/. - c.514G>T r.(?) p.(Val172Phe) - pathogenic g.18602433G>T g.18584313G>T CDKL5(NM_001037343.1):c.514G>T (p.V172F) - CDKL5_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 8 c.517G>C r.(?) p.(Ala173Pro) - VUS g.18602436G>C g.18584316G>C - - CDKL5_000160 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 8 c.525A>T r.(?) p.(R175S) - pathogenic g.18602444A>T g.18584324A>T - - CDKL5_000007 - - - rs61749700 Germline - - - - - Emmelien Aten
+/. 8 c.525A>T r.(?) p.(R175S) - pathogenic g.18602444A>T g.18584324A>T - - CDKL5_000007 - PubMed: Tao 2004; OMIM:var0004 - - Germline - - - - - Emmelien Aten
+/. 8 c.525A>T r.(?) p.(R175S) - pathogenic g.18602444A>T g.18584324A>T - - CDKL5_000007 - PubMed: Tao 2004; OMIM:var0004 - - Germline - - - - - Emmelien Aten
+/. 8 c.532C>T r.(?) p.(R178W) - pathogenic g.18602451C>T g.18584331C>T - - CDKL5_000019 - PubMed: Nemos - - Germline - - - - - Emmelien Aten
+?/. - c.533G>A r.(?) p.(Arg178Gln) - likely pathogenic g.18602452G>A g.18584332G>A CDKL5(NM_001037343.1):c.533G>A (p.R178Q) - CDKL5_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.533G>A r.(?) p.(Arg178Gln) - pathogenic g.18602452G>A g.18584332G>A CDKL5(NM_001037343.1):c.533G>A (p.R178Q) - CDKL5_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.533G>A r.(?) p.(Arg178Gln) - pathogenic (dominant) g.18602452G>A g.18584332G>A - - CDKL5_000101 - PubMed: Carvill 2013 - - De novo - - - - - Johan den Dunnen
+/. 8 c.533G>C r.(?) p.(R178P) - pathogenic g.18602452G>C g.18584332G>C - - CDKL5_000020 - PubMed: Elia - - Germline - - - - - Emmelien Aten
+/. - c.533G>C r.(?) p.(Arg178Pro) - pathogenic g.18602452G>C g.18584332G>C CDKL5(NM_001037343.1):c.533G>C (p.R178P) - CDKL5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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