All variants in the KCNQ2 gene

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

347 entries on 4 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     
?/? 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
-/. - 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
-/. - c.-88G>T r.(=) p.(=) - benign g.62103904C>A g.63472551C>A - - KCNQ2_000021 - - - - Germline - - - - - Andreas Laner
-/. - c.-88G>T 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 - - - - - VKGL-NL_Utrecht
?/. - c.22G>C r.(?) p.(Gly8Arg) - VUS g.62103795C>G - KCNQ2(NM_172107.2):c.22G>C (p.(Gly8Arg)) - KCNQ2_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.37G>T r.(?) p.(Gly13Cys) - likely benign g.62103780C>A - - - KCNQ2_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 c.45del r.(?) p.(Ser15Argfs*6) ACMG likely pathogenic (dominant) g.62103772del - - - KCNQ2_000213 ACMG PVS1, PM2 class 4 - - - Germline ? - - - - Andreas Laner
?/. 1 c.62A>C r.(?) p.(Lys21Thr) - VUS g.62103755T>G g.63472402T>G - - KCNQ2_000230 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. - c.136G>T r.(?) p.(Glu46*) - pathogenic g.62103681C>A - KCNQ2(NM_172107.4):c.136G>T (p.E46*) - KCNQ2_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.148C>T r.(?) p.(Arg50Cys) - VUS g.62103669G>A - KCNQ2(NM_172107.4):c.148C>T (p.(Arg50Cys)) - KCNQ2_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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
+/. - c.254T>C r.(?) p.(Leu85Pro) - pathogenic (dominant) g.62103563A>G g.63472210A>G - - KCNQ2_000264 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - 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
+/. - c.296_296+1insTC r.spl? p.? - pathogenic g.62103520_62103521insGA g.63472167_63472168insGA KCNQ2(NM_172107.4):c.296_296+1insTC - KCNQ2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.296+61C>G r.(=) p.(=) - VUS g.62103460G>C g.63472107G>C - - KCNQ2_000020 - - - - Germline - - - - - Andreas Laner
-/. - 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
-/. - c.297-84G>T r.(=) p.(=) - benign g.62078274C>A g.63446921C>A - - KCNQ2_000019 MGZ # 66482; 70403 - - - Germline - - - - - Andreas Laner
+/. - c.297-51_514+40del r.? p.? - pathogenic g.62076555_62078245del g.63445202_63446892del - - KCNQ2_000285 - - - - Germline - - - - - Min Peng
-?/. - 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
-?/. - 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_Utrecht
-?/. - 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
+/. - c.316T>G r.(?) p.(Cys106Gly) ACMG likely pathogenic g.62078171A>C - - - KCNQ2_000222 - - - - Germline - - - - - Anju Shukla
+?/. 2 c.319C>T r.(?) p.(Leu107Phe) - likely pathogenic g.62078168G>A g.63446815G>A - - KCNQ2_000058 - - - - De novo - - - - - NeuroMeGen
?/. - c.319C>T r.(?) p.(Leu107Phe) - VUS g.62078168G>A g.63446815G>A - - KCNQ2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 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
+?/. - c.364T>C r.(?) p.(Ser122Pro) - likely pathogenic (dominant) g.62078123A>G g.63446770A>G - - KCNQ2_000286 - - - - De novo - - - - - Min Peng
+/. - c.365C>T r.(?) p.(Ser122Leu) - pathogenic g.62078122G>A g.63446769G>A KCNQ2(NM_172107.4):c.365C>T (p.S122L) - KCNQ2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.365C>T r.(?) p.(Ser122Leu) - pathogenic g.62078122G>A g.63446769G>A KCNQ2(NM_172107.4):c.365C>T (p.S122L) - KCNQ2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.365C>T r.(?) p.(Ser122Leu) - pathogenic (dominant) g.62078122G>A g.63446769G>A - - KCNQ2_000145 - PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. - c.373G>T r.(?) p.(Ala125Ser) ACMG likely pathogenic (dominant) g.62078114C>A g.63446761C>A - - KCNQ2_000261 ACMG PM1,PM2,PP3,PP4 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.377T>G r.(?) p.(Leu126Arg) - VUS g.62078110A>C g.63446757A>C - - KCNQ2_000195 - - - - Unknown - - - - - IMGAG
?/. - c.377T>G r.(?) p.(Leu126Arg) - VUS g.62078110A>C g.63446757A>C - - KCNQ2_000195 - PubMed: Froukh 2020 - - De novo - - - - - Johan den Dunnen
+?/. - c.387+1G>C r.(?) p.(?) ACMG likely pathogenic g.62078099C>G g.63446746C>G - - KCNQ2_000198 - - - - Germline - - - - - Andreas Laner
+/. - 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
-?/. - 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
-/. - c.388-26G>T r.(=) p.(=) - benign g.62076743C>A g.63445390C>A - - KCNQ2_000018 - - - rs6062939 Germline - - - - - Andreas Laner
-/. - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 3 c.388G>A r.(?) p.(Glu130Lys) - likely pathogenic g.62076717C>T g.63445364C>T - - KCNQ2_000057 - - - - De novo - - - - - NeuroMeGen
+?/. - 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
+?/. - c.394G>A r.(?) p.(Val132Met) - likely pathogenic (dominant) g.62076711C>T g.63445358C>T - - KCNQ2_000142 - - - - Germline/De novo (untested) - - - - - Min Peng
+/. - 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
+/. - 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_Nijmegen
+/. - 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
+/. - c.450C>A r.(=) p.(Cys150*) - pathogenic g.62076655G>T g.63445302G>T - - KCNQ2_000017 - - - - Germline - - - - - Andreas Laner
./. - 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
+/. - c.472dup r.(=) p.(Arg158Lysfs*15) - pathogenic g.62076633dup g.63445280dup - - KCNQ2_000016 - - - - Germline - - - - - Andreas Laner
./. - 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
+/. - 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
?/. 3i c.514+5G>A r.spl? p.? ACMG VUS g.62076586C>T - - - KCNQ2_000250 ACMG: PS1_MOD, PM2_SUP, PP3; KCNQ2:c.514+5G>C is ClinVar class 4, affects same nucleotide position PS1 reduced to moderate) - - - Germline ? - - - - Andreas Laner
?/. - 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
-?/. - 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
+/. - 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
+?/. - 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
+/. - c.584C>T r.(?) p.(Ser195Phe) - pathogenic g.62076118G>A - KCNQ2(NM_172107.4):c.584C>T (p.S195F) - KCNQ2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/? 4 c.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A - - KCNQ2_000038 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - Gaetan Lesca
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic g.62076115G>A g.63444762G>A KCNQ2(NM_172107.4):c.587C>T (p.A196V) - KCNQ2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.587C>T r.(?) p.(Ala196Val) - pathogenic (dominant) g.62076115G>A g.63444762G>A NM_004518.4:c.587G>A (Ala196Val) - KCNQ2_000038 - PubMed: Carvill 2013 - - De novo - - - - - Johan den Dunnen
+/. - c.593G>A r.(=) p.(Arg198Gln) - pathogenic g.62076109C>T g.63444756C>T - - KCNQ2_000015 - - - - Germline - - - - - Andreas Laner
?/. 4 c.601C>G r.(?) p.(Arg201Gly) - VUS g.62076101G>C g.63444748G>C - - KCNQ2_000229 - PubMed: Ganapathy 2019 - - Germline - - - - - Johan den Dunnen
+/. 4 c.601C>T r.(?) p.(Arg201Cys) - pathogenic g.62076101G>A g.63444748G>A - - KCNQ2_000056 - - - - De novo - - - - - NeuroMeGen
+/. - 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 - - - - - VKGL-NL_Utrecht
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.62076100C>T g.63444747C>T KCNQ2(NM_172107.4):c.602G>A (p.R201H) - KCNQ2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic g.62076100C>T g.63444747C>T KCNQ2(NM_172107.4):c.602G>A (p.R201H) - KCNQ2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.602G>A r.(?) p.(Arg201His) - pathogenic (dominant) g.62076100C>T g.63444747C>T NM_004518.4:c.602C>T (Arg201His) - KCNQ2_000137 - PubMed: Carvill 2013 - - De novo - - - - - Johan den Dunnen
?/? 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
+/. - c.620G>A r.(?) p.(Arg207Gln) - pathogenic g.62076082C>T g.63444729C>T KCNQ2(NM_172107.4):c.620G>A (p.R207Q) - KCNQ2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.620G>A r.(?) p.(Arg207Gln) - pathogenic g.62076082C>T g.63444729C>T - - KCNQ2_000136 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118192200 Germline - 3/2790 individuals - - - Mohammed Faruq
+?/. - 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
+/. - 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
+?/. - c.629G>A r.(?) p.(Arg210His) - likely pathogenic (dominant) g.62076073C>T g.63444720C>T - - KCNQ2_000181 - PubMed: Al-Kasbi 2022 VCV000279931.18 rs886041262 Germline - - - - - Johan den Dunnen
+?/. 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
+/. - c.634G>T r.634g>u p.Asp212Tyr - pathogenic (dominant) g.62076068C>A g.63444715C>A - - KCNQ2_000255 - PubMed: Deshwar 2023 - - De novo - - - - - Johan den Dunnen
+/. - 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
+/. - c.638G>A r.(?) p.(Arg213Gln) - pathogenic g.62076064C>T - - - KCNQ2_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - 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
+?/. - c.644G>A r.(?) p.(Gly215Glu) - likely pathogenic g.62076058C>T g.63444705C>T KCNQ2(NM_172107.2):c.644G>A (p.(Gly215Glu)) - KCNQ2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - 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
+?/. - c.688A>G r.(?) p.(Lys230Glu) - likely pathogenic (dominant) g.62076014T>C g.63444661T>C - - KCNQ2_000284 - - - - De novo - - - - - Min Peng
+/. - 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
?/. - 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
-?/. - c.691-735_691-734insGTG r.(=) p.(=) - likely benign g.62074620_62074621insCCA - KCNQ2(NM_172107.4):c.691-735_691-734insGTG - KCNQ2_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - 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
+/. - 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
+?/. - c.704C>T r.(?) p.(Ala235Val) - likely pathogenic g.62073871G>A - - - KCNQ2_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - 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
?/. - c.709T>C r.(=) p.(Tyr237His) - VUS g.62073866A>G g.63442513A>G - - KCNQ2_000014 - - - - Germline - - - - - Andreas Laner
+/. - c.710A>G r.(?) p.(Tyr237Cys) ACMG pathogenic (dominant) g.62073865T>C g.63442512T>C - - KCNQ2_000209 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+?/. - c.710A>G r.(?) p.(Tyr237Cys) - likely pathogenic g.62073865T>C g.63442512T>C - - KCNQ2_000209 - PubMed: Srivastava 2014 - - De novo - - - - - Johan den Dunnen
-/. - 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
+/. - 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
+/. - c.740C>T r.(?) p.(Ser247Leu) - pathogenic g.62073835G>A g.63442482G>A - - KCNQ2_000159 - PubMed: Papuc 2019 - - De novo - - - - - Anaïs Begemann
+/. - c.740C>T r.(?) p.(Ser247Leu) - pathogenic (dominant) g.62073835G>A g.63442482G>A 740C>T - KCNQ2_000159 - PubMed: Hong 2020 - - De novo - - - - - Johan den Dunnen
+?/. - 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
-?/. - 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
?/. - c.757G>T r.(=) p.(Ala253Ser) - VUS g.62073818C>A g.63442465C>A - - KCNQ2_000013 - - - - Germline - - - - - Andreas Laner
?/. 5 c.760G>A r.(?) p.(Glu254Lys) - VUS g.62073815C>T g.63442462C>T - - KCNQ2_000227 - - - - Germline - - - - - LOVD
+?/? 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
+?/. 5 c.775G>T r.(?) p.(Asp259Tyr) - likely pathogenic g.62073800C>A g.63442447C>A - - KCNQ2_000049 - - - - Germline - - - - - NeuroMeGen
+?/. - 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
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