Unique variants in the KCNQ2 gene

Information The variants shown are described using the NM_172107.2 transcript reference sequence.

234 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

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     
?/? 1 1_4i c.(?_-177)_690+?del r.(?) p=0? - VUS g.(?_62076012)_(62103640_?)del - - - KCNQ2_000066 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
-/. 1 - c.-150C>A r.(?) p.(=) - benign g.62103966G>T g.63472613G>T KCNQ2(NM_172107.4):c.-150C>A - KCNQ2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.-88G>T r.(=), r.(?) p.(=) - benign g.62103904C>A g.63472551C>A KCNQ2(NM_172107.4):c.-88G>T - KCNQ2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
+?/. 1 1 c.45del r.(?) p.(Ser15Argfs*6) ACMG likely pathogenic (dominant) g.62103772del - - - KCNQ2_000213 ACMG PVS1, PM2 class 4 - - - Germline ? - - - - Andreas Laner
?/. 1 1 c.62A>C r.(?) p.(Lys21Thr) - VUS g.62103755T>G g.63472402T>G - - KCNQ2_000230 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.204C>A r.(?) p.(Pro68=) - likely benign g.62103613G>T - KCNQ2(NM_172107.3):c.204C>A (p.P68=) - KCNQ2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.263C>T r.(?) p.(Pro88Leu) - pathogenic g.62103554G>A g.63472201G>A KCNQ2(NM_172107.4):c.263C>T (p.P88L) - KCNQ2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.296_296+1insTC r.spl? p.? - pathogenic g.62103520_62103521insGA g.63472167_63472168insGA KCNQ2(NM_172107.3):c.296_296+1insTC - KCNQ2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.296+61C>G r.(=) p.(=) - VUS g.62103460G>C g.63472107G>C - - KCNQ2_000020 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.297-118G>A r.(=) p.(=) - benign g.62078308C>T g.63446955C>T KCNQ2(NM_172107.4):c.297-118G>A - KCNQ2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.297-84G>T r.(=) p.(=) - benign g.62078274C>A g.63446921C>A - - KCNQ2_000019 MGZ # 66482; 70403 - - - Germline - - - - - Andreas Laner
-?/. 2 - c.297-18C>T r.(=) p.(=) - likely benign g.62078208G>A g.63446855G>A KCNQ2(NM_172107.4):c.297-18C>T - KCNQ2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.315C>T r.(?) p.(Ser105=) - likely benign g.62078172G>A - KCNQ2(NM_172107.4):c.315C>T (p.S105=) - KCNQ2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.316T>G r.(?) p.(Cys106Gly) ACMG likely pathogenic g.62078171A>C - - - KCNQ2_000222 - - - - Germline - - - - - Anju Shukla
+?/., ?/. 2 2 c.319C>T r.(?) p.(Leu107Phe) - likely pathogenic, VUS g.62078168G>A g.63446815G>A - - KCNQ2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - NeuroMeGen, VKGL-NL_Nijmegen
+/? 1 2 c.333_334del r.(?) p.(Ser113Hisfs*6) - pathogenic g.62078156_62078157del g.63446803_63446804del - - KCNQ2_000031 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
+/. 2 - c.365C>T r.(?) p.(Ser122Leu) - pathogenic g.62078122G>A g.63446769G>A KCNQ2(NM_172107.3):c.365C>T (p.S122L), KCNQ2(NM_172107.4):c.365C>T (p.S122L) - KCNQ2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc
?/. 2 - c.377T>G r.(?) p.(Leu126Arg) - VUS g.62078110A>C g.63446757A>C - - KCNQ2_000195 - PubMed: Froukh 2020 - - De novo, Unknown - - - - - Johan den Dunnen, IMGAG
+?/. 1 - c.387+1G>C r.(?) p.(?) ACMG likely pathogenic g.62078099C>G g.63446746C>G - - KCNQ2_000198 - - - - Germline - - - - - Andreas Laner
+/. 1 - c.387+2T>C r.spl? p.? - pathogenic g.62078098A>G g.63446745A>G KCNQ2(NM_172107.4):c.387+2T>C - KCNQ2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.388-51C>T r.(=) p.(=) - likely benign g.62076768G>A g.63445415G>A KCNQ2(NM_172107.4):c.388-51C>T - KCNQ2_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 2 - c.388-26G>T r.(=) p.(=) - benign g.62076743C>A g.63445390C>A KCNQ2(NM_172107.4):c.388-26G>T - KCNQ2_000018 VKGL data sharing initiative Nederland - - rs6062939 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht
+?/. 1 3 c.388G>A r.(?) p.(Glu130Lys) - likely pathogenic g.62076717C>T g.63445364C>T - - KCNQ2_000057 - - - - De novo - - - - - NeuroMeGen
+?/. 1 - c.394G>A r.(?) p.(Val132Met) - likely pathogenic g.62076711C>T g.63445358C>T KCNQ2(NM_172107.4):c.394G>A (p.V132M) - KCNQ2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.430C>T r.(?) p.(Arg144Trp) - pathogenic g.62076675G>A g.63445322G>A KCNQ2(NM_172107.4):c.430C>T (p.R144W) - KCNQ2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.431G>A r.(?) p.(Arg144Gln) - pathogenic g.62076674C>T g.63445321C>T - - KCNQ2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.450C>A r.(=) p.(Cys150*) - pathogenic g.62076655G>T g.63445302G>T - - KCNQ2_000017 - - - - Germline - - - - - Andreas Laner
./. 1 - c.466G>C r.(?) p.(Gly156Arg) - VUS g.62076639C>G g.63445286C>G - - KCNQ2_000070 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
+/. 1 - c.472dup r.(=) p.(Arg158Lysfs*15) - pathogenic g.62076633dup g.63445280dup - - KCNQ2_000016 - - - - Germline - - - - - Andreas Laner
./. 1 - c.493C>T r.(?) p.(Arg165Trp) - VUS g.62076612G>A g.63445259G>A - - KCNQ2_000069 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - - - Dheeraj Bobbili
+/. 1 - c.505T>C r.(?) p.(Cys169Arg) - pathogenic g.62076600A>G g.63445247A>G KCNQ2(NM_172107.4):c.505T>C (p.C169R) - KCNQ2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.533C>T r.(?) p.(Ala178Val) - VUS g.62076169G>A g.63444816G>A KCNQ2(NM_172107.2):c.533C>T (p.(Ala178Val)) - KCNQ2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.563A>G r.(?) p.(Gln188Arg) - likely benign g.62076139T>C g.63444786T>C KCNQ2(NM_172107.4):c.563A>G (p.Q188R) - KCNQ2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.566G>T r.(?) p.(Gly189Val) - pathogenic g.62076136C>A g.63444783C>A KCNQ2(NM_172107.4):c.566G>T (p.G189V) - KCNQ2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.578C>T r.(?) p.(Ala193Val) - likely pathogenic g.62076124G>A g.63444771G>A KCNQ2(NM_172107.4):c.578C>T (p.A193V) - KCNQ2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.584C>T r.(?) p.(Ser195Phe) - pathogenic g.62076118G>A - KCNQ2(NM_172107.3):c.584C>T (p.S195F) - KCNQ2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/., +/? 4 4 c.587C>T r.(?) p.(Ala196Val) - pathogenic, pathogenic (dominant) g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V), NM_004518.4:c.587G>A (Ala196Val) - KCNQ2_000038 VKGL data sharing initiative Nederland PubMed: Carvill 2013, PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - CLASSIFICATION record, De novo, Germline - - - - - Johan den Dunnen, Gaetan Lesca, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 1 - c.593G>A r.(=) p.(Arg198Gln) - pathogenic g.62076109C>T g.63444756C>T - - KCNQ2_000015 - - - - Germline - - - - - Andreas Laner
?/. 1 4 c.601C>G r.(?) p.(Arg201Gly) - VUS g.62076101G>C g.63444748G>C - - KCNQ2_000229 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.601C>T r.(?) p.(Arg201Cys) - pathogenic g.62076101G>A g.63444748G>A KCNQ2(NM_172107.4):c.601C>T (p.R201C) - KCNQ2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - NeuroMeGen, VKGL-NL_Utrecht
+/. 3 - c.602G>A r.(?) p.(Arg201His) - pathogenic, pathogenic (dominant) g.62076100C>T g.63444747C>T KCNQ2(NM_172107.4):c.602G>A (p.R201H), NM_004518.4:c.602C>T (Arg201His) - KCNQ2_000137 VKGL data sharing initiative Nederland PubMed: Carvill 2013 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/? 1 4 c.619C>T r.(?) p.(Arg207Trp) - VUS g.62076083G>A g.63444730G>A - - KCNQ2_000037 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
+/. 2 - c.620G>A r.(?) p.(Arg207Gln) - pathogenic g.62076082C>T g.63444729C>T KCNQ2(NM_172107.4):c.620G>A (p.R207Q) - KCNQ2_000136 3 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs118192200 CLASSIFICATION record, Germline - 3/2790 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
+?/. 1 - c.628C>T r.(?) p.(Arg210Cys) - likely pathogenic g.62076074G>A - KCNQ2(NM_172107.3):c.628C>T (p.R210C) - KCNQ2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.629G>A r.(?) p.(Arg210His) - pathogenic g.62076073C>T g.63444720C>T - - KCNQ2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 4 c.629G>C r.(?) p.(Arg210Pro) - likely pathogenic g.62076073C>G g.63444720C>G - - KCNQ2_000228 - PubMed: Ganapathy 2019 ClinVar-RCV000454413.1 - Germline - - - - - Johan den Dunnen
+/. 1 - c.636C>A r.(?) p.(Asp212Glu) - pathogenic g.62076066G>T g.63444713G>T - - KCNQ2_000197 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052627 Germline - 2/2770 individuals - - - Mohammed Faruq
+/. 1 - c.643G>A r.(?) p.(Gly215Arg) - pathogenic g.62076059C>T g.63444706C>T KCNQ2(NM_172107.4):c.643G>A (p.G215R) - KCNQ2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.665G>A r.(?) p.(Gly222Asp) - pathogenic g.62076037C>T g.63444684C>T - - KCNQ2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.690+2T>C r.spl? p.? - pathogenic g.62076010A>G g.63444657A>G KCNQ2(NM_172107.4):c.690+2T>C - KCNQ2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.690+23_690+24insA r.(=) p.(=) - VUS g.62075988_62075989insT g.63444635_63444636insT KCNQ2(NM_172107.4):c.690+23_690+24insA - KCNQ2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.691-31_691-29del r.(=) p.(=) - likely benign g.62073917_62073919del g.63442564_63442566del KCNQ2(NM_172107.4):c.691-31_691-29delGGT - KCNQ2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.693G>C r.(?) p.(Glu231Asp) ACMG pathogenic (dominant) g.62073882C>G g.63442529C>G - - KCNQ2_000210 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.708G>T r.(?) p.(Trp236Cys) - VUS g.62073867C>A g.63442514C>A KCNQ2(NM_172107.3):c.708G>T (p.W236C) - KCNQ2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.709T>C r.(=) p.(Tyr237His) - VUS g.62073866A>G g.63442513A>G - - KCNQ2_000014 - - - - Germline - - - - - Andreas Laner
+/., +?/. 2 - c.710A>G r.(?) p.(Tyr237Cys) ACMG likely pathogenic, pathogenic (dominant) g.62073865T>C g.63442512T>C - - KCNQ2_000209 - PubMed: Helbig 2016, PubMed: Srivastava 2014 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.714C>T r.(?) p.(Ile238=) - benign g.62073861G>A g.63442508G>A KCNQ2(NM_172107.4):c.714C>T (p.I238=) - KCNQ2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.727C>T r.(?) p.(Leu243Phe) - pathogenic g.62073848G>A g.63442495G>A KCNQ2(NM_172107.4):c.727C>T (p.L243F) - KCNQ2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.740C>T r.(?) p.(Ser247Leu) - pathogenic, pathogenic (dominant) g.62073835G>A g.63442482G>A 740C>T - KCNQ2_000159 - PubMed: Hong 2020, PubMed: Papuc 2019 - - De novo - - - - - Johan den Dunnen, Anaïs Begemann
+?/. 1 - c.753C>G r.(?) p.(Tyr251*) ACMG likely pathogenic g.62073822G>C g.63442469G>C - - KCNQ2_000205 ACMG grading: PVS1,PM2 onset of seizures: 3 month - - - Germline - - - - - Andreas Laner
-?/. 1 - c.754T>C r.(?) p.(Leu252=) - likely benign g.62073821A>G g.63442468A>G KCNQ2(NM_172107.4):c.754T>C (p.L252=) - KCNQ2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.757G>T r.(=) p.(Ala253Ser) - VUS g.62073818C>A g.63442465C>A - - KCNQ2_000013 - - - - Germline - - - - - Andreas Laner
?/. 1 5 c.760G>A r.(?) p.(Glu254Lys) - VUS g.62073815C>T g.63442462C>T - - KCNQ2_000227 - 0 - - Germline - - - - - LOVD
+?/? 1 5 c.769del r.(?) p.(Glu257Argfs*16) - likely pathogenic g.62073810del g.63442457del - - KCNQ2_000002 - PubMed: Della Mina et al 2014 - - Germline yes - - - - Lab Zuffardi
+?/. 1 5 c.775G>T r.(?) p.(Asp259Tyr) - likely pathogenic g.62073800C>A g.63442447C>A - - KCNQ2_000049 - - - - Germline - - - - - NeuroMeGen
+?/. 1 - c.782T>G r.(?) p.(Phe261Cys) - likely pathogenic g.62073793A>C g.63442440A>C KCNQ2(NM_172107.4):c.782T>G (p.F261C) - KCNQ2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.788C>T r.(?) p.(Thr263Ile) - pathogenic g.62073787G>A g.63442434G>A - - KCNQ2_000044 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.792C>A r.(?) p.(Tyr264Ter) - pathogenic g.62073783G>T g.63442430G>T KCNQ2(NM_172107.4):c.792C>A (p.Y264*) - KCNQ2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.792C>T r.(?) p.(Tyr264=) - likely benign g.62073783G>A g.63442430G>A KCNQ2(NM_172107.4):c.792C>T (p.Y264=) - KCNQ2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/., ./. 3 5 c.793G>A r.(?) p.(Ala265Thr) - likely pathogenic, pathogenic g.62073782C>T g.63442429C>T KCNQ2(NM_172107.4):c.793G>A (p.A265T) - KCNQ2_000045 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, NeuroMeGen, VKGL-NL_Utrecht
+/. 1 - c.794C>T r.(?) p.(Ala265Val) - pathogenic g.62073781G>A g.63442428G>A KCNQ2(NM_172107.4):c.794C>T (p.A265V) - KCNQ2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 5 c.803T>C r.(?) p.(Leu268Pro) - likely pathogenic g.62073772A>G g.63442419A>G - - KCNQ2_000055 - - - - De novo - - - - - NeuroMeGen
+?/. 1 - c.806G>C r.(?) p.(Trp269Ser) ACMG pathogenic (dominant) g.62073769C>G - - - KCNQ2_000223 1 more item - - - Germline ? - - - - Andreas Laner
+?/. 1 - c.816+1G>T r.spl? p.? - likely pathogenic g.62073758C>A g.63442405C>A KCNQ2(NM_172107.3):c.816+1G>T - KCNQ2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.816+5G>A r.spl? p.? - likely pathogenic g.62073754C>T g.63442401C>T KCNQ2(NM_172107.4):c.816+5G>A - KCNQ2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.817-28C>T r.(=) p.(=) - VUS g.62071089G>A g.63439736G>A - - KCNQ2_000012 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.817-11C>T r.(=) p.(=) - likely benign g.62071072G>A g.63439719G>A KCNQ2(NM_172107.4):c.817-11C>T - KCNQ2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.820A>T r.(=) p.(Thr274Ser) - VUS g.62071058T>A g.63439705T>A - - KCNQ2_000011 - - - - Germline - - - - - Andreas Laner
+?/. 1 6 c.821C>T r.(?) p.(Thr274Met) - likely pathogenic g.62071057G>A g.63439704G>A - - KCNQ2_000054 - - - - De novo - - - - - NeuroMeGen
-?/. 1 - c.840C>T r.(?) p.(Tyr280=) - likely benign g.62071038G>A g.63439685G>A KCNQ2(NM_172107.3):c.840C>T (p.Y280=) - KCNQ2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ./. 2 - c.841G>A r.(?) p.(Gly281Arg) - pathogenic, pathogenic (dominant) g.62071037C>T g.63439684C>T - - KCNQ2_000046 - PubMed: DDDS 2015, Journal: DDDS 2015, PubMed: Zhu 2015 - - De novo - - - - - Johan den Dunnen
./. 1 - c.846C>G r.(?) p.(Asp282Glu) - pathogenic g.62071032G>C g.63439679G>C - - KCNQ2_000048 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. 1 6 c.850T>G r.(?) p.(Tyr284Asp) - likely pathogenic g.62071028A>C g.63439675A>C - - KCNQ2_000051 - - - - De novo - - - - - NeuroMeGen
+/. 1 - c.853C>A r.(?) p.(Pro285Thr) - pathogenic (dominant) g.62071025G>T g.63439672G>T - - KCNQ2_000214 - PubMed: Hong 2020 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.864G>T r.(?) p.(Trp288Cys) - likely pathogenic g.62071014C>A g.63439661C>A KCNQ2(NM_172107.4):c.864G>T (p.W288C) - KCNQ2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.867C>T r.(?) p.(Asn289=) - likely benign g.62071011G>A g.63439658G>A KCNQ2(NM_172107.4):c.867C>T (p.N289=) - KCNQ2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 6 c.881C>T r.(?) p.(Ala294Val) - pathogenic g.62070997G>A g.63439644G>A KCNQ2(NM_172107.4):c.881C>T (p.A294V) - KCNQ2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - NeuroMeGen, VKGL-NL_Utrecht
-/. 1 - c.888C>T r.(?) p.(Thr296=) - benign g.62070990G>A g.63439637G>A KCNQ2(NM_172107.4):c.888C>T (p.T296=) - KCNQ2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 2 - c.901G>A r.(?) p.(Gly301Ser) - pathogenic g.62070977C>T g.63439624C>T KCNQ2(NM_172107.4):c.901G>A (p.G301S) - KCNQ2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.902G>A r.(?) p.(Gly301Asp) ACMG pathogenic g.62070976C>T g.63439623C>T - - KCNQ2_000067 - - - - De novo yes - - - - Bernt Popp
+/. 1 - c.902G>T r.(?) p.(Gly301Val) - pathogenic g.62070976C>A g.63439623C>A KCNQ2(NM_172107.4):c.902G>T (p.G301V) - KCNQ2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 3 - c.912C>T r.(=), r.(?) p.(=), p.(Phe304=) - benign g.62070966G>A g.63439613G>A KCNQ2(NM_172107.4):c.912C>T (p.F304=) - KCNQ2_000010 VKGL data sharing initiative Nederland - - rs2297385 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 1 - c.913_915del r.(?) p.(Phe305del) - pathogenic g.62070967_62070969del g.63439614_63439616del - - KCNQ2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +/? 2 6 c.916G>A r.(?) p.(Ala306Thr) - pathogenic g.62070962C>T g.63439609C>T KCNQ2(NM_172107.3):c.916G>A (p.A306T) - KCNQ2_000036 VKGL data sharing initiative Nederland PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - CLASSIFICATION record, Germline - - - - - Gaetan Lesca, VKGL-NL_VUmc
+/., +?/., ?/. 5 6 c.917C>T r.(?) p.(Ala306Val) - likely pathogenic, pathogenic, VUS g.62070961G>A g.63439608G>A KCNQ2(NM_172107.4):c.917C>T (p.A306V), NM_004518.4:c.917G>A (ALA306VAL) - KCNQ2_000052 1 heterozygous, no homozygous; Clinindb (India), father unavailable, 1 more item PubMed: Carvill 2013, PubMed: Narang 2020, Journal: Narang 2020 - rs864321707 CLASSIFICATION record, De novo, Germline, Germline/De novo (untested) - 1/2795 individuals - - - Johan den Dunnen, NeuroMeGen, VKGL-NL_Groningen, VKGL-NL_Utrecht, Mohammed Faruq
+?/? 1 6 c.923C>T r.(?) p.(Pro308Leu) - likely pathogenic g.62070955G>A g.63439602G>A - - KCNQ2_000034 - - - - De novo yes - - - - Lab Zuffardi
-/. 1 - c.928-160C>T r.(=) p.(=) - benign g.62070233G>A g.63438880G>A KCNQ2(NM_172107.4):c.928-160C>T - KCNQ2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.928-10T>A r.(=) p.(=) - VUS g.62070083A>T g.63438730A>T KCNQ2(NM_172107.4):c.928-10T>A - KCNQ2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 6i c.928-1G>C r.[=,928_957del] p.Gly310_Lys319del10 - VUS g.62070074C>G g.63438721C>G - - KCNQ2_000035 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - De novo - - - - - Gaetan Lesca
+/. 1 7 c.943G>T r.(?) p.(Gly315Arg) - likely pathogenic g.62070058C>A g.63438705C>A - - KCNQ2_000053 - - - - De novo - - - - - NeuroMeGen
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