Full data view for gene KCNQ2

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

284 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 1_4i c.(?_-177)_690+?del r.(?) p=0? Paternal (inferred) - VUS g.(?_62076012)_(62103640_?)del - - - KCNQ2_000066 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - DNA SEQ - - BFNS1 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - 1 Gaetan Lesca
-/. - c.-150C>A r.(?) p.(=) Unknown - benign g.62103966G>T g.63472613G>T KCNQ2(NM_172107.4):c.-150C>A - KCNQ2_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-88G>T r.(=) p.(=) Parent #1 - benign g.62103904C>A g.63472551C>A - - KCNQ2_000021 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-88G>T r.(?) p.(=) Unknown - benign g.62103904C>A g.63472551C>A KCNQ2(NM_172107.4):c.-88G>T - KCNQ2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.45del r.(?) p.(Ser15Argfs*6) Unknown ACMG likely pathogenic (dominant) g.62103772del - - - KCNQ2_000213 ACMG PVS1, PM2 class 4 - - - Germline ? - - - - DNA SEQ-NG-I - - BFNS1 171279 - - M ? Syria - - 0 - - 1 Andreas Laner
?/. 1 c.62A>C r.(?) p.(Lys21Thr) Unknown - VUS g.62103755T>G g.63472402T>G - - KCNQ2_000230 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-4152 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
-?/. - c.204C>A r.(?) p.(Pro68=) Unknown - likely benign g.62103613G>T - KCNQ2(NM_172107.3):c.204C>A (p.P68=) - KCNQ2_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.263C>T r.(?) p.(Pro88Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.296_296+1insTC r.spl? p.? Unknown - pathogenic g.62103520_62103521insGA g.63472167_63472168insGA KCNQ2(NM_172107.3):c.296_296+1insTC - KCNQ2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296+61C>G r.(=) p.(=) Parent #1 - VUS g.62103460G>C g.63472107G>C - - KCNQ2_000020 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.297-118G>A r.(=) p.(=) Unknown - benign g.62078308C>T g.63446955C>T KCNQ2(NM_172107.4):c.297-118G>A - KCNQ2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.297-84G>T r.(=) p.(=) Parent #1 - benign g.62078274C>A g.63446921C>A - - KCNQ2_000019 MGZ # 66482; 70403 - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.297-18C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.297-18C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315C>T r.(?) p.(Ser105=) Unknown - likely benign g.62078172G>A - KCNQ2(NM_172107.4):c.315C>T (p.S105=) - KCNQ2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.316T>G r.(?) p.(Cys106Gly) Unknown ACMG likely pathogenic g.62078171A>C - - - KCNQ2_000222 - - - - Germline - - - - - DNA SEQ-NG - - BMD, EIEE7 - - - - - - - - - - - 1 Anju Shukla
+?/. 2 c.319C>T r.(?) p.(Leu107Phe) Unknown - likely pathogenic g.62078168G>A g.63446815G>A - - KCNQ2_000058 - - - - De novo - - - 0 - DNA SEQ-NG-I - - BFNS1 - - - - - - - - 0 - - 1 NeuroMeGen
?/. - c.319C>T r.(?) p.(Leu107Phe) Unknown - VUS g.62078168G>A g.63446815G>A - - KCNQ2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.333_334del r.(?) p.(Ser113Hisfs*6) Paternal (inferred) - pathogenic g.62078156_62078157del g.63446803_63446804del - - KCNQ2_000031 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - DNA SEQ - - BFNS1 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - 1 Gaetan Lesca
+/. - c.365C>T r.(?) p.(Ser122Leu) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.365C>T r.(?) p.(Ser122Leu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.377T>G r.(?) p.(Leu126Arg) Unknown - VUS g.62078110A>C g.63446757A>C - - KCNQ2_000195 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
?/. - c.377T>G r.(?) p.(Leu126Arg) Unknown - VUS g.62078110A>C g.63446757A>C - - KCNQ2_000195 - PubMed: Froukh 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - NDD TF035 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders - - Jordan - - 0 - - 1 Johan den Dunnen
+?/. - c.387+1G>C r.(?) p.(?) Unknown ACMG likely pathogenic g.62078099C>G g.63446746C>G - - KCNQ2_000198 - - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.387+2T>C r.spl? p.? Unknown - pathogenic g.62078098A>G g.63446745A>G KCNQ2(NM_172107.4):c.387+2T>C - KCNQ2_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.388-51C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.388-26G>T r.(=) p.(=) Parent #1 - benign g.62076743C>A g.63445390C>A - - KCNQ2_000018 - - - rs6062939 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.388-26G>T r.(=) p.(=) Unknown - benign g.62076743C>A g.63445390C>A KCNQ2(NM_172107.4):c.388-26G>T - KCNQ2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.388G>A r.(?) p.(Glu130Lys) Unknown - likely pathogenic g.62076717C>T g.63445364C>T - - KCNQ2_000057 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EIEE7 - - - - - - - - 0 - - 1 NeuroMeGen
+?/. - c.394G>A r.(?) p.(Val132Met) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.430C>T r.(?) p.(Arg144Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.430C>T r.(?) p.(Arg144Trp) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.431G>A r.(?) p.(Arg144Gln) Unknown - pathogenic g.62076674C>T g.63445321C>T - - KCNQ2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.450C>A r.(=) p.(Cys150*) Parent #1 - pathogenic g.62076655G>T g.63445302G>T - - KCNQ2_000017 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
./. - c.466G>C r.(?) p.(Gly156Arg) Unknown - VUS g.62076639C>G g.63445286C>G - - KCNQ2_000070 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_544:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
+/. - c.472dup r.(=) p.(Arg158Lysfs*15) Parent #1 - pathogenic g.62076633dup g.63445280dup - - KCNQ2_000016 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
./. - c.493C>T r.(?) p.(Arg165Trp) Unknown - VUS g.62076612G>A g.63445259G>A - - KCNQ2_000069 - PubMed: Bobbili 2018, Journal: Bobbili 2018 - - Germline - 1/567 controls - 0 - DNA SEQ-NG - - Healthy/Control S_63:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - 1 Dheeraj Bobbili
+/. - c.505T>C r.(?) p.(Cys169Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.533C>T r.(?) p.(Ala178Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.563A>G r.(?) p.(Gln188Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.566G>T r.(?) p.(Gly189Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.578C>T r.(?) p.(Ala193Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.584C>T r.(?) p.(Ser195Phe) Unknown - pathogenic g.62076118G>A - KCNQ2(NM_172107.3):c.584C>T (p.S195F) - KCNQ2_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic g.62076115G>A g.63444762G>A - - KCNQ2_000038 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - DNA SEQ - - BFNS1 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - 1 Gaetan Lesca
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.587C>T r.(?) p.(Ala196Val) Unknown - pathogenic (dominant) g.62076115G>A g.63444762G>A NM_004518.4:c.587G>A (Ala196Val) - KCNQ2_000038 - PubMed: Carvill 2013 - - De novo - - - 0 - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T24158 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - 1 Johan den Dunnen
+/. - c.593G>A r.(=) p.(Arg198Gln) Parent #1 - pathogenic g.62076109C>T g.63444756C>T - - KCNQ2_000015 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 4 c.601C>G r.(?) p.(Arg201Gly) Unknown - VUS g.62076101G>C g.63444748G>C - - KCNQ2_000229 - PubMed: Ganapathy 2019 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5207 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. 4 c.601C>T r.(?) p.(Arg201Cys) Unknown - pathogenic g.62076101G>A g.63444748G>A - - KCNQ2_000056 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EIEE7 - - - - - - - - 0 - - 1 NeuroMeGen
+/. - c.601C>T r.(?) p.(Arg201Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.602G>A r.(?) p.(Arg201His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.602G>A r.(?) p.(Arg201His) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.602G>A r.(?) p.(Arg201His) Unknown - pathogenic (dominant) g.62076100C>T g.63444747C>T NM_004518.4:c.602C>T (Arg201His) - KCNQ2_000137 - PubMed: Carvill 2013 - - De novo - - - 0 - DNA MIP, SEQ, SEQ-NG - 65-gene panel EE T23919 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - 1 Johan den Dunnen
?/? 4 c.619C>T r.(?) p.(Arg207Trp) Maternal (confirmed) - VUS g.62076083G>A g.63444730G>A - - KCNQ2_000037 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - Germline - - - - - DNA SEQ - - BFNS1 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - 1 Gaetan Lesca
+/. - c.620G>A r.(?) p.(Arg207Gln) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.620G>A r.(?) p.(Arg207Gln) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+?/. - c.628C>T r.(?) p.(Arg210Cys) Unknown - likely pathogenic g.62076074G>A - KCNQ2(NM_172107.3):c.628C>T (p.R210C) - KCNQ2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629G>A r.(?) p.(Arg210His) Unknown - pathogenic g.62076073C>T g.63444720C>T - - KCNQ2_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.629G>C r.(?) p.(Arg210Pro) Unknown - likely pathogenic g.62076073C>G g.63444720C>G - - KCNQ2_000228 - PubMed: Ganapathy 2019 ClinVar-RCV000454413.1 - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-3640 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+/. - c.636C>A r.(?) p.(Asp212Glu) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
+/. - c.643G>A r.(?) p.(Gly215Arg) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.665G>A r.(?) p.(Gly222Asp) Unknown - pathogenic g.62076037C>T g.63444684C>T - - KCNQ2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.690+2T>C r.spl? p.? Unknown - pathogenic g.62076010A>G g.63444657A>G KCNQ2(NM_172107.4):c.690+2T>C - KCNQ2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.690+23_690+24insA r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.691-31_691-29del r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.693G>C r.(?) p.(Glu231Asp) Unknown ACMG pathogenic (dominant) g.62073882C>G g.63442529C>G - - KCNQ2_000210 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat53 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.708G>T r.(?) p.(Trp236Cys) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.709T>C r.(=) p.(Tyr237His) Parent #1 - VUS g.62073866A>G g.63442513A>G - - KCNQ2_000014 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. - c.710A>G r.(?) p.(Tyr237Cys) Unknown ACMG pathogenic (dominant) g.62073865T>C g.63442512T>C - - KCNQ2_000209 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat52 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.710A>G r.(?) p.(Tyr237Cys) Unknown - likely pathogenic g.62073865T>C g.63442512T>C - - KCNQ2_000209 - PubMed: Srivastava 2014 - - De novo - - - 0 - DNA SEQ-NG - WES ? Pat50 PubMed: Srivastava 2014 - - - United States - - 0 - - 1 Johan den Dunnen
-/. - c.714C>T r.(?) p.(Ile238=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.727C>T r.(?) p.(Leu243Phe) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.740C>T r.(?) p.(Ser247Leu) Unknown - pathogenic g.62073835G>A g.63442482G>A - - KCNQ2_000159 - PubMed: Papuc 2019 - - De novo - - - 0 - DNA SEQ-NG-I blood WES EIEE 73214 - - F no Italy - - 0 - - 1 Anaïs Begemann
+/. - c.740C>T r.(?) p.(Ser247Leu) Unknown - pathogenic (dominant) g.62073835G>A g.63442482G>A 740C>T - KCNQ2_000159 - PubMed: Hong 2020 - - De novo - - - 0 - DNA SEQ, SEQ-NG - WES ? Pat4 PubMed: Hong 2020 - M - Taiwan - - 0 - - 1 Johan den Dunnen
+?/. - c.753C>G r.(?) p.(Tyr251*) Unknown ACMG likely pathogenic g.62073822G>C g.63442469G>C - - KCNQ2_000205 ACMG grading: PVS1,PM2 onset of seizures: 3 month - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - M - Germany - - 0 - - 1 Andreas Laner
-?/. - c.754T>C r.(?) p.(Leu252=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.757G>T r.(=) p.(Ala253Ser) Parent #1 - VUS g.62073818C>A g.63442465C>A - - KCNQ2_000013 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. 5 c.760G>A r.(?) p.(Glu254Lys) Unknown - VUS g.62073815C>T g.63442462C>T - - KCNQ2_000227 - 0 - - Germline - - - 0 - DNA SEQ-NG - TruSight One panel ? S-5296 PubMed: Ganapathy 2019 - - - India - - 0 - - 1 Johan den Dunnen
+?/? 5 c.769del r.(?) p.(Glu257Argfs*16) Paternal (confirmed) - likely pathogenic g.62073810del g.63442457del - - KCNQ2_000002 - PubMed: Della Mina et al 2014 - - Germline yes - - 0 - DNA SEQ, SEQ-NG-I - - BFNS1 - - - F - Italy - - 0 - - 1 Lab Zuffardi
+?/. 5 c.775G>T r.(?) p.(Asp259Tyr) Unknown - likely pathogenic g.62073800C>A g.63442447C>A - - KCNQ2_000049 - - - - Germline - - - 0 - DNA SEQ-NG-I - - BFNS1 - - - - - - - - 0 - - 4 NeuroMeGen
+?/. - c.782T>G r.(?) p.(Phe261Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.788C>T r.(?) p.(Thr263Ile) Unknown - pathogenic g.62073787G>A g.63442434G>A - - KCNQ2_000044 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.792C>A r.(?) p.(Tyr264Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.792C>T r.(?) p.(Tyr264=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.793G>A r.(?) p.(Ala265Thr) Unknown - pathogenic g.62073782C>T g.63442429C>T - - KCNQ2_000045 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. 5 c.793G>A r.(?) p.(Ala265Thr) Unknown - likely pathogenic g.62073782C>T g.63442429C>T - - KCNQ2_000045 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EIEE7 - - - - - - - - 0 - - 1 NeuroMeGen
+/. - c.793G>A r.(?) p.(Ala265Thr) Unknown - pathogenic g.62073782C>T g.63442429C>T KCNQ2(NM_172107.4):c.793G>A (p.A265T) - KCNQ2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.794C>T r.(?) p.(Ala265Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.803T>C r.(?) p.(Leu268Pro) Unknown - likely pathogenic g.62073772A>G g.63442419A>G - - KCNQ2_000055 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EIEE7 - - - - - - - - 0 - - 1 NeuroMeGen
+?/. - c.806G>C r.(?) p.(Trp269Ser) Unknown ACMG pathogenic (dominant) g.62073769C>G - - - KCNQ2_000223 ACMG: PM1, PM5, PM2, PP2:SUP, PP3; alters a highly conserved position in the pore loop between the S5 and S6 transmembrane segments, and other missense variants at the same position and in this region have been reported in association with benign familial neonatal seizures and neonatal epileptic encephalopathy. p.Trp269Leu regarded pathogenic (ClinVar) - - - Germline ? - - - - DNA SEQ-NG-I - - EIEE7 155496 - - F ? Italy - - 0 - - 1 Andreas Laner
+?/. - c.816+1G>T r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.816+5G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.817-28C>T r.(=) p.(=) Parent #1 - VUS g.62071089G>A g.63439736G>A - - KCNQ2_000012 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.817-11C>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.820A>T r.(=) p.(Thr274Ser) Parent #1 - VUS g.62071058T>A g.63439705T>A - - KCNQ2_000011 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. 6 c.821C>T r.(?) p.(Thr274Met) Unknown - likely pathogenic g.62071057G>A g.63439704G>A - - KCNQ2_000054 - - - - De novo - - - 0 - DNA SEQ-NG-I - - EIEE7 - - - - - - - - 0 - - 1 NeuroMeGen
-?/. - c.840C>T r.(?) p.(Tyr280=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
./. - c.841G>A r.(?) p.(Gly281Arg) Unknown - pathogenic g.62071037C>T g.63439684C>T - - KCNQ2_000046 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.841G>A r.(?) p.(Gly281Arg) Unknown - pathogenic (dominant) g.62071037C>T g.63439684C>T - - KCNQ2_000046 - PubMed: Zhu 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ? Trio10 PubMed: Zhu 2015 - M - Israel - - 0 - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »