Full data view for gene KCNH2

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

1169 entries on 12 pages. Showing entries 1 - 100.
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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     
+/. - c.-401_*409{0} r.? p.? Unknown - pathogenic g.(?_143873921)_(155888203_?)del - arr[GRCh37] 7q35q36.3(143873921_155888203)x1 - FASTK_000004 variant definitively linked to disease Fusco 2042, submitted - - Germline - - - - - DNA SEQ-NG blood - CM Fam147Pat165 Fusco 2042, submitted - M - Italy white - - - - 1 Carmela Fusco
-?/. - c.-43_-39dup r.(?) p.(=) Unknown - likely benign g.150675053_150675057dup g.150977965_150977969dup - - KCNH2_001300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12_-11insGGCCGGCCC r.(?) p.(=) Unknown - likely benign g.150675016_150675017insCGGCCGGGC g.150977928_150977929insCGGCCGGGC - - KCNH2_001299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.(3002ˆ3003)G>A r.(?) p.(Trp1001*) Unknown - pathogenic g.(150644565_150644566)C>T - W1001X - KCNH2_000923 data from Inherited Arrhythmias web site PubMed: Moss 2002 - - Germline - - - - - DNA SEQ - - LQT 11854117-? PubMed: Moss 2002 data from Inherited Arrhythmias web site - - United States - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-401_*409{0} r.0 p.0 Unknown ACMG pathogenic g.149665917_150777829del - - - FASTK_000004 795kb deletion incl. KCNH2, 5' breakpoint in ACTR3C gene PubMed: Singer 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - SUD NSW76A PubMed: Singer 2021 - - - Australia - - - - - 1 Johan den Dunnen
+/. 1 c.2T>G r.(?) p.0? Parent #1 - pathogenic g.150675000A>C g.150977912A>C (Met1Thr) - KCNH2_000792 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - B0424 2-generation family, 0M, 3F - - France - - - - - 3 Hideki Itoh
?/. - c.16G>A r.(?) p.(Gly6Ser) Unknown - VUS g.150674986C>T - KCNH2(NM_000238.4):c.16G>A (p.G6S) - KCNH2_001341 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.38C>A r.(?) p.(Thr13Asn) Parent #1 - VUS g.150674964G>T g.150977876G>T - - KCNH2_000791 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - B1393 2-generation family, 0M, 4F - - France - - - - - 4 Hideki Itoh
?/. - c.44T>A r.(?) p.(Leu15Gln) Parent #1 - VUS g.150674958A>T g.150977870A>T - - KCNH2_001321 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728418 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. 1 c.45_56del r.(?) p.(Asp16_Ile19del) Parent #1 - VUS g.150674947_150674958del g.150977859_150977870del - - KCNH2_000790 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam876 3-generation family, 3M, 6F - - Germany - - - - - 9 Hideki Itoh
-/. - c.51C>G r.(?) p.(Thr17=) Unknown - benign g.150674951G>C g.150977863G>C KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=) - KCNH2_001206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>G r.(?) p.(Thr17=) Unknown - likely benign g.150674951G>C g.150977863G>C KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=) - KCNH2_001206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>G r.(?) p.(Thr17=) Unknown - likely benign g.150674951G>C g.150977863G>C KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=) - KCNH2_001206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.56T>C r.(?) p.(Ile19Thr) Parent #1 - VUS g.150674946A>G g.150977858A>G - - KCNH2_000789 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam699 2-generation family, 2M, 2F - - Germany - - - - - 4 Hideki Itoh
?/. 1 c.59G>T r.(?) p.(Arg20Leu) Parent #1 - VUS g.150674943C>A g.150977855C>A - - KCNH2_000788 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam140 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
?/. - c.59G>T r.(?) p.(Arg20Leu) Unknown ACMG VUS g.150674943C>A g.150977855C>A - - KCNH2_000788 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.76+12A>G r.(=) p.(=) Unknown - likely benign g.150674914T>C g.150977826T>C KCNH2(NM_000238.3):c.76+12A>G - KCNH2_001205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77-5C>G r.spl? p.? Unknown - benign g.150672034G>C g.150974946G>C KCNH2(NM_000238.4):c.77-5C>G - KCNH2_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.77-5C>G r.spl? p.? Unknown - likely benign g.150672034G>C g.150974946G>C KCNH2(NM_000238.4):c.77-5C>G - KCNH2_001268 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.77G>T r.(?) p.(Ser26Ile) Unknown - pathogenic g.150672029C>A g.150974941C>A G77T - KCNH2_000918 data from Inherited Arrhythmias web site PubMed: Moss 2002 - - Germline - - - - - DNA SEQ - - LQT 11854117-? PubMed: Moss 2002 2 patients - - United States - - - - - 2 Johan den Dunnen
+/. 2 c.77_78delinsTT r.(?) p.(Ser26Ile) Unknown - pathogenic g.150672028_150672029delinsAA g.150974940_150974941delinsAA 77-78GC>TT - KCNH2_001157 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840562-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.81del r.(?) p.(Lys28Serfs*32) Parent #1 - pathogenic g.150672025del g.150974937del - - KCNH2_000787 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - B0161 2-generation family, 2M, 1F - - France - - - - - 3 Hideki Itoh
+/. 2 c.82A>G r.(?) p.(Lys28Glu) Unknown - pathogenic g.150672024T>C g.150974936T>C A82G - KCNH2_001156 data from Inherited Arrhythmias web site PubMed: Rossenbacker 2005 - - Germline - - - - - DNA SEQ - - LQT 15699249-? PubMed: Rossenbacker 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. - c.82A>G r.(?) p.(Lys28Glu) Parent #1 - VUS g.150672024T>C g.150974936T>C - - KCNH2_001156 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794728475 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 2 c.87C>A r.(?) p.(Phe29Leu) Unknown - pathogenic g.150672019G>T g.150974931G>T C87A - KCNH2_001155 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.87C>A r.(?) p.(Phe29Leu) Unknown - pathogenic g.150672019G>T g.150974931G>T C87A - KCNH2_001155 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.87C>A r.(?) p.(Phe29Leu) Unknown - pathogenic g.150672019G>T g.150974931G>T C87A - KCNH2_001155 data from Inherited Arrhythmias web site PubMed: Struijk 2006 - - Germline - - - - - DNA SEQ - - LQT 16937190-? PubMed: Struijk 2006 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.87C>A r.(?) p.(Phe29Leu) Unknown - pathogenic g.150672019G>T g.150974931G>T - - KCNH2_001155 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840563-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
?/. 2 c.87C>A r.(?) p.(Phe29Leu) Unknown - pathogenic g.150672019G>T g.150974931G>T - - KCNH2_001155 - - - - Germline ? - - - - DNA SEQ-NG-I - 100 genes associated with cardiac diseases SUD 9 - - F ? Denmark - 25y - - - 1 Sofie Lindgren Christiansen
+/. 2 c.92T>G r.(?) p.(Ile31Ser) Unknown - pathogenic g.150672014A>C g.150974926A>C T92G - KCNH2_001154 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.98A>C r.(?) p.(Asn33Thr) Unknown - pathogenic g.150672008T>G g.150974920T>G A98C - KCNH2_001153 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.98A>C r.(?) p.(Asn33Thr) Unknown - pathogenic g.150672008T>G g.150974920T>G A98C - KCNH2_001153 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-/. 2 c.98A>C r.(?) p.(Asn33Thr) Unknown - benign g.150672008T>G g.150974920T>G A98C - KCNH2_001153 data from Inherited Arrhythmias web site PubMed: Ackerman 2003 - - Germline - - - - - DNA SEQ - - Healthy/Control 14661677-? PubMed: Ackerman 2003 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
-/- 2 c.98A>C r.(?) p.(Asn33Thr) Unknown - benign g.150672008T>G g.150974920T>G - - KCNH2_001153 - PubMed: Ackerman 2003 - - Germline - 1/187 controls - - - DNA SEQ - - - 14661713-con PubMed: Ackerman 2003 187 Caucasian controls - - United States European, white - - - - 1 Johan den Dunnen
-/. - c.120C>T r.(?) p.(Ala40=) Unknown - benign g.150671986G>A g.150974898G>A KCNH2(NM_000238.4):c.120C>T (p.A40=) - KCNH2_001204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.125T>G r.(?) p.(Ile42Ser) Parent #1 - VUS g.150671981A>C g.150974893A>C - - KCNH2_000786 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam917 2-generation family, 2M, 0F - - Germany - - - - - 2 Hideki Itoh
?/. 2 c.127T>G r.(?) p.(Tyr43Asp) Parent #1 - VUS g.150671979A>C g.150974891A>C - - KCNH2_000785 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam72 2-generation family, 1M, 2F - - Japan - - - - - 3 Hideki Itoh
+/. 2 c.128A>G r.(?) p.(Tyr43Cys) Unknown - pathogenic g.150671978T>C g.150974890T>C A128G - KCNH2_001152 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.130T>G r.(?) p.(Cys44Gly) Parent #1 - VUS g.150671976A>C g.150974888A>C - - KCNH2_000784 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam312 3-generation family, 1M, 2F - - Germany - - - - - 3 Hideki Itoh
?/. 2 c.131G>T r.(?) p.(Cys44Phe) Parent #1 - VUS g.150671975C>A g.150974887C>A - - KCNH2_000783 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - G11296 3-generation family, 3M, 3F - - France - - - - - 6 Hideki Itoh
+/. 2 c.131G>T r.(?) p.(Cys44Phe) Unknown - pathogenic g.150671975C>A g.150974887C>A - - KCNH2_000783 data from Inherited Arrhythmias web site PubMed: Lupoglazoff JM 2001 - - Germline - - - - - DNA SEQ - - LQT 11222472-? PubMed: Lupoglazoff JM 2001 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.132C>A r.(?) p.(Cys44*) Unknown - pathogenic g.150671974G>T g.150974886G>T C132A - KCNH2_001151 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.135C>A r.(?) p.(Asn45Lys) Parent #1 - VUS g.150671971G>T g.150974883G>T - - KCNH2_000782 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - B0911 2-generation family, 0M, 2F - - France - - - - - 2 Hideki Itoh
+/. 2 c.140G>T r.(?) p.(Gly47Val) Unknown - pathogenic g.150671966C>A g.150974878C>A G140T - KCNH2_001150 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.145T>C r.(?) p.(Cys49Arg) Parent #1 - VUS g.150671961A>G g.150974873A>G - - KCNH2_000781 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - G9979 3-generation family, 5M, 3F - - France - - - - - 8 Hideki Itoh
+/. 2 c.146G>A r.(?) p.(Cys49Tyr) Unknown - pathogenic g.150671960C>T g.150974872C>T G146A - KCNH2_001149 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.148del r.(?) p.(Glu50Serfs*10) Parent #1 - pathogenic g.150671958del g.150974870del 148delG - KCNH2_000780 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam74 2-generation family, 0M, 2F - - Japan - - - - - 2 Hideki Itoh
?/. 2 c.157G>A r.(?) p.(Gly53Ser) Parent #1 - VUS g.150671949C>T g.150974861C>T - - KCNH2_000779 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam28 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
?/. 2 c.157G>A r.(?) p.(Gly53Ser) Parent #1 - VUS g.150671949C>T g.150974861C>T - - KCNH2_000779 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam90 2-generation family, 2M, 1F - - Japan - - - - - 3 Hideki Itoh
+/. 2 c.157G>C r.(?) p.(Gly53Arg) Unknown - pathogenic g.150671949C>G g.150974861C>G G157C - KCNH2_001148 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.157G>C r.(?) p.(Gly53Arg) Unknown - pathogenic g.150671949C>G g.150974861C>G G157C - KCNH2_001148 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.157G>C r.(?) p.(Gly53Arg) Unknown - pathogenic g.150671949C>G g.150974861C>G - - KCNH2_001148 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840534-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
?/. 2 c.158G>A r.(?) p.(Gly53Asp) Parent #1 - VUS g.150671948C>T g.150974860C>T - - KCNH2_000778 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam294 2-generation family, 1M, 3F - - Germany - - - - - 4 Hideki Itoh
?/. 2 c.158G>A r.(?) p.(Gly53Asp) Parent #1 - VUS g.150671948C>T g.150974860C>T - - KCNH2_000778 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam522 2-generation family, 1M, 2F - - Germany - - - - - 3 Hideki Itoh
+/. 2 c.164C>T r.(?) p.(Ser55Leu) Unknown - pathogenic g.150671942G>A g.150974854G>A C164T - KCNH2_001147 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.164C>T r.(?) p.(Ser55Leu) Parent #1 - pathogenic g.150671942G>A g.150974854G>A - - KCNH2_001147 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199472844 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. 2 c.167G>A r.(?) p.(Arg56Gln) Parent #1 - VUS g.150671939C>T g.150974851C>T - - KCNH2_000849 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam160 2-generation family, 0M, 3F - - Japan - - - - - 3 Hideki Itoh
+/. 2 c.167G>A r.(?) p.(Arg56Gln) Unknown - pathogenic g.150671939C>T g.150974851C>T G167A - KCNH2_000849 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.167G>A r.(?) p.(Arg56Gln) Unknown - pathogenic g.150671939C>T g.150974851C>T G167A - KCNH2_000849 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.172G>A r.(?) p.(Glu58Lys) Parent #1 - VUS g.150671934C>T g.150974846C>T - - KCNH2_000777 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - G14227 2-generation family, 2M, 2F - - France - - - - - 4 Hideki Itoh
?/. 2 c.172G>A r.(?) p.(Glu58Lys) Parent #1 - VUS g.150671934C>T g.150974846C>T - - KCNH2_000777 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam36 2-generation family, 0M, 2F - - Japan - - - - - 2 Hideki Itoh
+/. 2 c.172G>A r.(?) p.(Glu58Lys) Unknown - pathogenic g.150671934C>T g.150974846C>T G172A - KCNH2_000777 data from Inherited Arrhythmias web site PubMed: Lupoglazoff JM 2001 - - Germline - - - - - DNA SEQ - - LQT 11222472-? PubMed: Lupoglazoff JM 2001 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.173A>C r.(?) p.(Glu58Ala) Unknown - pathogenic g.150671933T>G g.150974845T>G A173C - KCNH2_001145 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.173A>G r.(?) p.(Glu58Gly) Unknown - pathogenic g.150671933T>C g.150974845T>C A173G - KCNH2_001146 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.174G>C r.(?) p.(Glu58Asp) Unknown - pathogenic g.150671932C>G g.150974844C>G G174C - KCNH2_001144 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.191G>A r.(?) p.(Cys64Tyr) Parent #1 - VUS g.150671915C>T g.150974827C>T - - KCNH2_000776 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - P60.011 3-generation family, 0M, 6F - - Netherlands - - - - - 6 Hideki Itoh
+/. 2 c.191G>A r.(?) p.(Cys64Tyr) Unknown - pathogenic g.150671915C>T g.150974827C>T G191A - KCNH2_000776 data from Inherited Arrhythmias web site PubMed: Van Langen 2003 - - Germline - - - - - DNA SEQ - - LQT 12566525-? PubMed: Van Langen 2003 data from Inherited Arrhythmias web site - - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.191G>A r.(?) p.(Cys64Tyr) Unknown - likely pathogenic g.150671915C>T - KCNH2(NM_000238.3):c.191G>A (p.C64Y) - KCNH2_000776 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.193A>C r.(?) p.(Thr65Pro) Unknown - pathogenic g.150671913T>G g.150974825T>G A193C - KCNH2_001143 data from Inherited Arrhythmias web site PubMed: Paulussen 2002 - - Germline - - - - - DNA SEQ - - LQT 12354768-? PubMed: Paulussen 2002 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.193A>C r.(?) p.(Thr65Pro) Unknown - pathogenic g.150671913T>G g.150974825T>G - - KCNH2_001143 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840548-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.196T>G r.(?) p.(Cys66Gly) Unknown - pathogenic g.150671910A>C g.150974822A>C T196G - KCNH2_001142 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.196T>G r.(?) p.(Cys66Gly) Unknown - pathogenic g.150671910A>C g.150974822A>C T196G - KCNH2_001142 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+?/. - c.197G>A r.(?) p.(Cys66Tyr) Unknown - likely pathogenic g.150671909C>T - KCNH2(NM_000238.4):c.197G>A (p.C66Y) - KCNH2_001372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.202T>C r.(?) p.(Phe68Leu) Unknown - pathogenic g.150671904A>G g.150974816A>G T202C - KCNH2_001141 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.202T>G r.(?) p.(Phe68Val) Parent #1 - VUS g.150671904A>C g.150974816A>C - - KCNH2_000775 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam452 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 2 c.209A>G r.(?) p.(His70Arg) Unknown - pathogenic g.150671897T>C g.150974809T>C A209G - KCNH2_001140 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.209A>G r.(?) p.(His70Arg) Unknown - pathogenic g.150671897T>C g.150974809T>C A209G - KCNH2_001140 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.209A>G r.(?) p.(His70Arg) Unknown - pathogenic g.150671897T>C g.150974809T>C - - KCNH2_001140 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840549-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
?/. 2 c.211G>A r.(?) p.(Gly71Arg) Parent #1 - VUS g.150671895C>T g.150974807C>T - - KCNH2_000774 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam680 2-generation family, 1M, 1F - - Japan - - - - - 2 Hideki Itoh
+/. 2 c.211G>C r.(?) p.(Gly71Arg) Unknown - pathogenic g.150671895C>G g.150974807C>G G211C - KCNH2_001139 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.215C>A r.(?) p.(Pro72Gln) Parent #1 - VUS g.150671891G>T g.150974803G>T - - KCNH2_000773 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam57 2-generation family, 0M, 2F - - Japan - - - - - 2 Hideki Itoh
+/. 2 c.215C>A r.(?) p.(Pro72Gln) Unknown - pathogenic g.150671891G>T g.150974803G>T C215A - KCNH2_000773 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+?/. - c.215C>G r.(?) p.(Pro72Arg) Unknown - likely pathogenic g.150671891G>C g.150974803G>C KCNH2(NM_000238.4):c.215C>G (p.P72R) - KCNH2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.215C>T r.(?) p.(Pro72Leu) Parent #1 - VUS g.150671891G>A g.150974803G>A - - KCNH2_000772 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - Fam760 3-generation family, 6M, 8F - - Germany - - - - - 14 Hideki Itoh
+/. 2 c.221C>T r.(?) p.(Thr74Met) Unknown - pathogenic g.150671885G>A g.150974797G>A C221T - KCNH2_001138 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.221_251del r.(?) p.(Thr74Argfs*32) Unknown - pathogenic g.150671861_150671891del g.150974773_150974803del 221_251del - KCNH2_001135 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.221_251del r.(?) p.(Thr74Argfs*32) Unknown - pathogenic g.150671861_150671891del g.150974773_150974803del del221–251 - KCNH2_001135 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840564-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.223C>T r.(?) p.(Gln75*) Parent #1 - pathogenic g.150671883G>A g.150974795G>A - - KCNH2_000771 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - B0475 3-generation family, 1M, 4F - - France - - - - - 5 Hideki Itoh
?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - VUS g.150671877G>A - - - KCNH2_001417 - - - rs769084156 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.232G>C r.(?) p.(Ala78Pro) Unknown - pathogenic g.150671874C>G g.150974786C>G G232C - KCNH2_001137 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.232G>C r.(?) p.(Ala78Pro) Unknown - pathogenic g.150671874C>G g.150974786C>G G232C - KCNH2_001137 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.232G>C r.(?) p.(Ala78Pro) Unknown - pathogenic g.150671874C>G g.150974786C>G - - KCNH2_001137 - PubMed: Tester 2005 - - Germline - 1/541 cases LQT - - - DNA SEQ - - LQT 15840550-Pat PubMed: Tester 2005 541 LQT cases - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.241C>T r.(?) p.(Gln81*) Unknown - pathogenic g.150671865G>A g.150974777G>A C241T - KCNH2_001136 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.244_252del r.(?) p.(Ile82_Gln84del) Unknown - pathogenic g.150671861_150671869del g.150974773_150974781del 244_252del - KCNH2_001134 data from Inherited Arrhythmias web site PubMed: Napolitano 2005 - - Germline - - - - - DNA SEQ - - LQT 16414944-? PubMed: Napolitano 2005 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.244_252dup r.(?) p.(Ile82_Gln84dup) Unknown - pathogenic g.150671861_150671869dup g.150974773_150974781dup 244_252ins9 (82-84insIAQ) - KCNH2_000951 data from Inherited Arrhythmias web site PubMed: Larsen 2001 - - Germline - - - - - DNA SEQ - - LQT 11468227-? PubMed: Larsen 2001 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+?/. - c.251A>G r.(?) p.(Gln84Arg) Unknown ACMG likely pathogenic g.150671855T>C g.150974767T>C - - KCNH2_001361 ACMG PM1, PM2, PP2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - clinical exome sequencing ? 9038 PubMed: Marinakis 2021 - F - Greece - - - - - 1 Jan Traeger-Synodinos
+/. 2 c.254C>T r.(?) p.(Ala85Val) Unknown - pathogenic g.150671852G>A g.150974764G>A C254T - KCNH2_001133 data from Inherited Arrhythmias web site PubMed: Tester 2005 - - Germline - - - - - DNA SEQ - - LQT 15840476-? PubMed: Tester 2005 - - - United States - - - - - 1 Johan den Dunnen
+/. 2 c.257T>G r.(?) p.(Leu86Arg) Unknown - pathogenic g.150671849A>C g.150974761A>C T257G - KCNH2_001132 data from Inherited Arrhythmias web site PubMed: Chen 1999 - - Germline - - - - - DNA SEQ - - LQT 10077519-? PubMed: Chen 1999 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
+/. 2 c.257T>G r.(?) p.(Leu86Arg) Unknown - pathogenic g.150671849A>C g.150974761A>C T257G - KCNH2_001132 data from Inherited Arrhythmias web site PubMed: Splawski 2000 - - Germline - - - - - DNA SEQ - - LQT 10973849-? PubMed: Splawski 2000 data from Inherited Arrhythmias web site - - - - - - - - 1 Johan den Dunnen
?/. 2 c.260T>C r.(?) p.(Leu87Pro) Parent #1 - VUS g.150671846A>G g.150974758A>G - - KCNH2_000770 - - - - Germline - - - - - DNA SEQ leukocyte - LQT2 - P72.459 3-generation family, 3M, 3F - - Netherlands - - - - - 6 Hideki Itoh
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