### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNJ2) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "KCNJ2" "potassium inwardly-rectifying channel, subfamily J, member 2" "17" "q24.3" "unknown" "LRG_328" "UD_132085231854" "" "http://www.LOVD.nl/KCNJ2" "" "1" "6263" "3759" "600681" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KCNJ2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-27 11:57:30" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010371" "KCNJ2" "potassium inwardly-rectifying channel, subfamily J, member 2" "001" "NM_000891.2" "" "NP_000882.1" "" "" "" "-383" "5005" "1284" "68165676" "68176185" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01499" "-" "Andersen syndrome" "AD" "170390" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02864" "SQT3" "QT syndrome, short, type 3 (SQT-3)" "" "609622" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03502" "ATFB9" "fibrillation, atrial, familial, type 9 (ATFB-9)" "AD" "613980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KCNJ2" "01499" "KCNJ2" "02864" "KCNJ2" "03502" ## Individuals ## Do not remove or alter this header ## ## Count = 129 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00028978" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">66y" "0" "" "" "white" "" "00128437" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "186" "00206609" "" "" "" "1" "" "03005" "{PMID:Kuramoto 2012:22739561}" "cardiac abnormalities / dysmorphic features" "F" "?" "Japan" ">15y" "0" "" "" "" "" "00206610" "" "" "" "1" "" "03005" "{PMID:Bendahhou 2007:17324964}" "cardiac abnormalities / periodic paralysis / dysmorphic features / the brother and the father are nonpenetrace / 2 mutation carrers" "M" "?" "France" ">19y" "0" "" "" "" "" "00206611" "" "" "" "41" "" "03005" "{PMID:Andelfinger 2002:12148092}" "cardiac abnormalities / 9 is non-penetrance" "F" "?" "United States" ">13y" "0" "" "" "white" "" "00206612" "" "" "" "3" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / KJ-01" "F" "?" "Japan" ">30y" "0" "" "" "Japanese" "" "00206613" "" "" "" "1" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7908" "M" "?" "United States" "" "0" "" "" "" "" "00206614" "" "" "" "1" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8636" "M" "?" "United States" "" "0" "" "" "" "" "00206615" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">25y" "0" "" "" "" "" "00206616" "" "" "" "4" "" "03005" "{PMID:Davies 2005:16217063}" "periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">10y" "0" "" "" "" "" "00206617" "" "" "" "1" "" "03005" "{PMID:Kimura 2012:22589293}" "periodic paralysis" "M" "?" "Japan" ">24y" "0" "" "" "" "" "00206618" "" "" "" "1" "" "03005" "{PMID:Eckhardt 2007:17341397}" "cardiac abnormalities" "F" "?" "United States" "" "0" "" "" "white" "" "00206619" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / dysmorphic features / Kindred 323" "F" "?" "Japan" ">13y" "0" "" "" "Japanese" "" "00206620" "" "" "" "2" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">6y" "0" "" "" "" "" "00206621" "" "" "" "1" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7770" "F" "?" "United States" "" "0" "" "" "" "" "00206622" "" "" "" "1" "" "03005" "{PMID:Marrus 2011:22186697}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "United States" ">28y" "0" "" "" "" "" "00206623" "" "" "" "10" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 4415" "F" "?" "United States" ">11y" "0" "" "" "" "" "00206624" "" "" "" "2" "" "03005" "{PMID:Ballester 2006:16541386}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "United States" ">10y" "0" "" "" "white" "" "00206625" "" "" "" "7" "" "03005" "{PMID:Fodstad 2004:15276028}" "cardiac abnormalities / periodic paralysis" "F" "?" "Finland" ">20y" "0" "" "" "" "" "00206626" "" "" "" "1" "" "03005" "{PMID:Yoon 2006:16419128}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">25y" "0" "" "" "white" "" "00206627" "" "" "" "1" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7300" "F" "?" "United States" "" "0" "" "" "" "" "00206628" "" "" "" "3" "" "03005" "{PMID:Lu 2006:16571646}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">15y" "0" "" "" "" "" "00206629" "" "" "" "2" "" "03005" "{PMID:Tani 2007:17582433}" "cardiac abnormalities" "F" "?" "Japan" ">35y" "0" "" "" "Japanese" "" "00206630" "" "" "" "1" "" "03005" "{PMID:Eckhardt 2007:17341397}" "cardiac abnormalities / periodic paralysis" "F" "?" "United States" "" "0" "" "" "white" "" "00206631" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "United Kingdom (Great Britain)" ">19y" "0" "" "" "" "" "00206632" "" "" "" "2" "" "03005" "{PMID:Yoon 2006:16419128}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">38y" "0" "" "" "white" "" "00206633" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">17y" "0" "" "" "" "" "00206634" "" "" "" "1" "" "03005" "{PMID:Eckhardt 2007:17341397}" "cardiac abnormalities" "F" "?" "United States" "" "0" "" "" "white" "" "00206635" "" "" "" "1" "" "03005" "{PMID:Tester 2006:16818210}" "cardiac abnormalities" "F" "?" "United States" ">14y" "0" "" "" "" "" "00206636" "" "" "" "1" "" "03005" "{PMID:Tester 2006:16818210}" "cardiac abnormalities" "F" "?" "United States" ">9y" "0" "" "" "" "" "00206637" "" "" "" "1" "" "03005" "{PMID:Kimura 2012:22589293}" "cardiac abnormalities" "F" "?" "Japan" ">29y" "0" "" "" "" "" "00206638" "" "" "" "1" "" "03005" "{PMID:Kuramoto 2012:22739561}" "cardiac abnormalities / dysmorphic features / KCNH2 P1093L" "M" "?" "Japan" ">11y" "0" "" "" "" "" "00206639" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "periodic paralysis / dysmorphic features / his mother was carrer / his brother has periodic paralysis" "M" "?" "United Kingdom (Great Britain)" ">15y" "0" "" "" "" "" "00206640" "" "" "" "1" "" "03005" "{PMID:Kimura 2012:22589293}" "cardiac abnormalities" "F" "?" "Japan" ">46y" "0" "" "" "" "" "00206641" "" "" "" "7" "" "03005" "{PMID:Xia 2005:15922306}" "cardiac abnormalities" "M" "?" "China" ">59y" "0" "" "" "Chinese" "" "00206642" "" "" "" "1" "" "03005" "" "" "M" "?" "Japan" ">63y" "0" "" "" "Asian" "" "00206643" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3328" "F" "?" "United States" ">26y" "0" "" "" "" "" "00206644" "" "" "" "1" "" "03005" "{PMID:Chun 2004:15851159}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">16y" "0" "" "" "" "" "00206645" "" "" "" "1" "" "03005" "{PMID:Zhang 2005:15911703} {PMID:Ballester 2006:16541386}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "?" "?" "United States" "" "0" "" "" "" "" "00206646" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "periodic paralysis / dysmorphic features / he was one of twins." "M" "?" "United Kingdom (Great Britain)" ">18y" "0" "" "" "" "" "00206647" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "periodic paralysis / dysmorphic features / Kindred6634" "F" "?" "United States" ">45y" "0" "" "" "" "" "00206648" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred3856" "F" "?" "United States" ">23y" "0" "" "" "" "" "00206649" "" "" "" "2" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 024, his son had seizure, KCNQ1(A341V)" "F" "?" "Japan" ">44y" "0" "" "" "Japanese" "" "00206650" "" "" "" "1" "" "03005" "{PMID:Kimura 2012:22589293}" "cardiac abnormalities" "F" "?" "Japan" ">3y" "0" "" "" "" "" "00206651" "" "" "" "1" "" "03005" "{PMID:Lim 2010:20382953}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "Korea" ">18y" "0" "" "" "" "" "00206652" "" "" "" "2" "" "03005" "{PMID:Ballester 2006:16541386}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "France" ">9y" "0" "" "" "Hispanic" "" "00206653" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Knidred 179" "F" "?" "Japan" ">28y" "0" "" "" "Japanese" "" "00206654" "" "" "" "3" "" "03005" "{PMID:Yoon 2006:16419128}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">29y" "0" "" "" "white" "" "00206655" "" "" "" "3" "" "03005" "{PMID:Donaldson 2003:12796536}" "dysmorphic features / Kindred8472" "F" "?" "United States" "" "0" "" "" "" "" "00206656" "" "" "" "1" "" "03005" "{PMID:Kim 2009:19931173}" "periodic paralysis / dysmorphic features" "M" "?" "Korea" ">18y" "0" "" "" "Korean" "" "00206657" "" "" "" "3" "" "03005" "{PMID:Sacconi 2009:19570891}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "France" ">31y" "0" "" "" "" "" "00206658" "" "" "" "1" "" "03005" "{PMID:Bendahhou 2005:1464553}" "periodic paralysis / dysmorphic features" "M" "?" "France" ">27y" "0" "" "" "" "" "00206659" "" "" "" "2" "" "03005" "{PMID:Fodstad 2004:15276028}" "cardiac abnormalities" "F" "?" "Finland" ">40y" "0" "" "" "" "" "00206660" "" "" "" "2" "" "03005" "{PMID:Priori 2005:15761194} {PMID:El Harchi 2009:19285083}" "cardiac abnormalities" "F" "?" "Italy" ">5y" "0" "" "" "" "" "00206661" "" "" "" "2" "" "03005" "{PMID:Tristani 2002:12163457}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 7246" "M" "?" "United States" ">18y" "0" "" "" "" "" "00206662" "" "" "" "2" "" "03005" "{PMID:Donaldson, 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7862" "F" "?" "United States" "" "0" "" "" "" "" "00206663" "" "" "" "4" "" "03005" "{PMID:Ai 2002:12045162}" "cardiac abnormalities / periodic paralysis" "M" "?" "Japan" ">13y" "0" "" "" "Japanese" "" "00206664" "" "" "" "2" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / Kindred 037" "M" "?" "Japan" ">13y" "0" "" "" "Japanese" "" "00206665" "" "" "" "3" "" "03005" "{PMID:Nagase 2007:17399643}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "Japan" ">19y" "0" "" "" "Japanese" "" "00206666" "" "" "" "1" "" "03005" "{PMID:Nagashima 2010:20609799}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "Japan" ">23y" "0" "" "" "Japanese" "" "00206667" "" "" "" "3" "" "03005" "{PMID:Chan 2010:20111058}" "periodic paralysis / dysmorphic features" "F" "?" "Taiwan" ">35y" "0" "" "" "Taiwanese" "" "00206668" "" "" "" "1" "" "03005" "{PMID:Hosaka 2003:12689820}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "Japan" ">34y" "0" "" "" "Japanese" "" "00206669" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / N-01" "F" "?" "Japan" "34y" "0" "" "" "Japanese" "" "00206670" "" "" "" "3" "" "03005" "{PMID:Lim 2010:20382953}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "Korea" ">11y" "0" "" "" "" "" "00206671" "" "" "" "6" "" "03005" "{PMID:Tristani 2002:12163457}" "cardiac abnormalities / Kindred 3442" "F" "?" "United States" ">21y" "0" "" "" "" "" "00206672" "" "" "" "1" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">32y" "0" "" "" "" "" "00206673" "" "" "" "2" "" "03005" "{PMID:Lange 2003:12909315} {PMID:Yoon 2006:16419128}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United States" ">12y" "0" "" "" "white" "" "00206674" "" "" "" "1" "" "03005" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2681" "F" "?" "United States" ">29y" "0" "" "" "white" "" "00206675" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6515" "M" "?" "United States" ">17y" "0" "" "" "" "" "00206676" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 2401" "F" "?" "United States" ">35y" "0" "" "" "" "" "00206677" "" "" "" "1" "" "03005" "{PMID:Tristani 2002:12163457}" "cardiac abnormalities / Kindred2679" "M" "?" "United States" ">24y" "0" "" "" "" "" "00206678" "" "" "" "1" "" "03005" "{PMID:Tristani 2002:12163457}" "cardiac abnormalities / Kindred7480" "M" "?" "United States" ">10y" "0" "" "" "" "" "00206679" "" "" "" "2" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7527, father nonpenetrace" "F" "?" "United States" "" "0" "" "" "" "" "00206680" "" "" "" "4" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">15y" "0" "" "" "" "" "00206681" "" "" "" "3" "" "03005" "{PMID:Davies 2005:16217063}" "periodic paralysis / dysmorphic features" "M" "?" "United Kingdom (Great Britain)" ">24y" "0" "" "" "" "" "00206682" "" "" "" "3" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / Kindred 180" "F" "?" "Japan" ">6y" "0" "" "" "Japanese" "" "00206683" "" "" "" "3" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / dysmorphic features / Kindred 240" "F" "?" "Japan" ">11y" "0" "" "" "Japanese" "" "00206684" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 324" "M" "?" "Japan" ">6y" "0" "" "" "Japanese" "" "00206685" "" "" "" "1" "" "03005" "{PMID:Weir 2011:19223265}" "periodic paralysis / dysmorphic features" "F" "?" "United States" ">34y" "0" "" "" "Scottish" "" "00206686" "" "" "" "3" "" "03005" "{PMID:Schoonderwoerd 2006:17074642}" "cardiac abnormalities / dysmorphic features" "F" "?" "Netherlands" ">18y" "0" "" "" "" "" "00206687" "" "" "" "1" "" "03005" "{PMID:Subbiah 2008:18554214}" "cardiac abnormalities / periodic paralysis" "F" "?" "Canada" ">27y" "0" "" "" "" "" "00206688" "" "" "" "2" "" "03005" "{PMID:Tengan 2006:17119796}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "no" "Brazil" ">33y" "0" "" "" "" "" "00206689" "" "" "" "1" "" "03005" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred6562" "M" "?" "United States" ">24y" "0" "" "" "white" "" "00206690" "" "" "" "2" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 176" "F" "?" "Japan" ">13y" "0" "" "" "Japanese" "" "00206691" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 201" "F" "?" "Japan" ">12y" "0" "" "" "Japanese" "" "00206692" "" "" "" "6" "" "03005" "{PMID:Choi 2007:17211524}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "Korea" ">19y" "0" "" "" "Korean" "" "00206693" "" "" "" "1" "" "03005" "{PMID:Tester 2006:16818210}" "cardiac abnormalities" "F" "?" "United States" ">17y" "0" "" "" "" "" "00206694" "" "" "" "1" "" "03005" "{PMID:Kimura 2012:22589293}" "cardiac abnormalities" "M" "?" "Japan" ">24y" "0" "" "" "" "" "00206695" "" "" "" "1" "" "03005" "{PMID:Barajas 2011:21148745}" "cardiac abnormalities / dysmorphic features" "F" "?" "United States" ">10y" "0" "" "" "" "" "00206696" "" "" "" "1" "" "03005" "{PMID:Deo 2013:23440193}" "cardiac abnormalities" "M" "?" "Italy" ">11y" "0" "" "" "" "" "00206697" "" "" "" "2" "" "03005" "{PMID:Bendahhou 2005:15831539}" "cardiac abnormalities / periodic paralysis" "F" "?" "France" ">24y" "0" "" "" "" "" "00206698" "" "" "" "3" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8305" "M" "?" "United States" "" "0" "" "" "" "" "00206699" "" "" "" "5" "" "03005" "{PMID:Davies 2005:16217063}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "F" "?" "United Kingdom (Great Britain)" ">32y" "0" "" "" "" "" "00206700" "" "" "" "4" "" "03005" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3387, three non-penetrace" "M" "?" "United States" ">21y" "0" "" "" "white" "" "00206701" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / Kindred3677" "F" "?" "United States" ">34y" "0" "" "" "" "" "00206702" "" "" "" "2" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / dysmorphic features / KJ-02" "M" "?" "Japan" ">16y" "0" "" "" "Japanese" "" "00206703" "" "" "" "2" "" "03005" "{PMIDKamiya 2012}" "cardiac abnormalities / dysmorphic features" "F" "?" "Japan" ">26y" "0" "" "" "Japanese" "" "00206704" "" "" "" "1" "" "03005" "{PMID:Hattori 2012:22155372}" "cardiac abnormalities" "F" "?" "Japan" ">8y" "0" "" "" "Japanese" "" "00206705" "" "" "" "1" "" "03005" "{PMID:Ma 2007:17166852} {PMID:Tristani-Firouz 2002:12163457}" "cardiac abnormalities / Kindred 2682" "M" "?" "United States" ">48y" "0" "" "" "" "" "00206706" "" "" "" "1" "" "03005" "{PMID:Kuramoto 2012:22739561}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "Japan" ">7y" "0" "" "" "Japanese" "" "00206707" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347} {PMID:Lange 2003:12909315}" "cardiac abnormalities / dysmorphic features / Kindred2281" "F" "?" "United States" ">16y" "0" "" "" "" "" "00206708" "" "" "" "1" "" "03005" "{PMID:Eckhardt 2007:17341397}" "cardiac abnormalities" "F" "?" "United States" "" "0" "" "" "white" "" "00206709" "" "" "" "4" "" "03005" "{PMID:Bendahhou 2007:17324964}" "cardiac abnormalities / periodic paralysis" "F" "?" "France" ">23y" "0" "" "" "White" "" "00206710" "" "" "" "2" "" "03005" "{PMID:Kuramoto 2012:22739561}" "cardiac abnormalities / dysmorphic features / L382L (1146C>T), her first son died of Gaucher\'s disease" "F" "?" "Japan" ">37y" "0" "" "" "Japanese" "" "00206711" "" "" "" "3" "" "03005" "{PMID:Choi 2007:17211524}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "Korea" ">19y" "0" "" "" "Korean" "" "00206712" "" "" "" "2" "" "03005" "{PMID:Bendahhou 2005:15831539}" "cardiac abnormalities / periodic paralysis / dysmorphic features / His brother died suddenly at age 29." "M" "?" "France" ">12y" "0" "" "" "" "" "00206713" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities / dysmorphic features / KJ-03" "F" "?" "Japan" ">17y" "0" "" "" "Japanese" "" "00206714" "" "" "" "3" "" "03005" "{PMID:Donaldson 2003:12796536}" "cardiac abnormalities / periodic paralysis / Kindred8276" "F" "?" "United States" "" "0" "" "" "" "" "00206715" "" "" "" "3" "" "03005" "{PMID:Sacconi 2009:19570891}" "cardiac abnormalities / periodic paralysis / dysmorphic features" "M" "?" "France" ">37y" "0" "" "" "white" "" "00206716" "" "" "" "1" "" "03005" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "cardiac abnormalities / periodic paralysis / dysmorphic features / kindred5768" "F" "?" "United States" ">12y" "0" "" "" "Cacasian" "" "00206717" "" "" "" "1" "" "03005" "{PMID:Haruna 2007:17221872}" "cardiac abnormalities" "F" "?" "Japan" ">74y" "0" "" "" "Japanese" "" "00206718" "" "" "" "1" "" "03005" "{PMID:Doi 2011:21493816}" "cardiac abnormalities / periodic paralysis" "M" "?" "Japan" ">13y" "0" "" "" "Japanese" "" "00206719" "" "" "" "1" "" "03005" "{PMID:Plaster 2001:11371347}" "0" "?" "?" "United States" "" "0" "" "" "" "" "00206720" "" "" "" "1" "" "03005" "{PMID:Fodstad 2004:15276028}" "0" "?" "?" "Finland" "" "0" "" "" "" "" "00206721" "" "" "" "1" "" "03005" "{PMID:Obeyesekere 2011:21875779}" "cardiac abnormalities" "F" "?" "Canada" ">53y" "0" "" "" "" "" "00275528" "" "" "" "1" "" "03547" "Handklo-Jamal, submitted 2019" "" "F" "no" "Israel" "35y" "0" "" "" "Jewish" "" "00291824" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291825" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291826" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291827" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291828" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295285" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304598" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305339" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363328" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "179511" "00419552" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected mother" "M" "" "Greece" "" "0" "" "" "" "7011" "00448693" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "291345" "00453191" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam371Pat402" "00453192" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam279Pat299" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 129 "{{individualid}}" "{{diseaseid}}" "00028978" "04170" "00128437" "00198" "00206609" "01499" "00206610" "01499" "00206611" "01499" "00206612" "01499" "00206613" "01499" "00206614" "01499" "00206615" "01499" "00206616" "01499" "00206617" "01499" "00206618" "01499" "00206619" "01499" "00206620" "01499" "00206621" "01499" "00206622" "01499" "00206623" "01499" "00206624" "01499" "00206625" "01499" "00206626" "01499" "00206627" "01499" "00206628" "01499" "00206629" "01499" "00206630" "01499" "00206631" "01499" "00206632" "01499" "00206633" "01499" "00206634" "01499" "00206635" "01499" "00206636" "01499" "00206637" "01499" "00206638" "01499" "00206639" "01499" "00206640" "01499" "00206641" "03502" "00206642" "01499" "00206643" "01499" "00206644" "01499" "00206645" "01499" "00206646" "01499" "00206647" "01499" "00206648" "01499" "00206649" "01499" "00206650" "01499" "00206651" "01499" "00206652" "01499" "00206653" "01499" "00206654" "01499" "00206655" "01499" "00206656" "01499" "00206657" "01499" "00206658" "01499" "00206659" "01499" "00206660" "02864" "00206661" "01499" "00206662" "01499" "00206663" "01499" "00206664" "01499" "00206665" "01499" "00206666" "01499" "00206667" "01499" "00206668" "01499" "00206669" "01499" "00206670" "01499" "00206671" "01499" "00206672" "01499" "00206673" "01499" "00206674" "01499" "00206675" "01499" "00206676" "01499" "00206677" "01499" "00206678" "01499" "00206679" "01499" "00206680" "01499" "00206681" "01499" "00206682" "01499" "00206683" "01499" "00206684" "01499" "00206685" "01499" "00206686" "01499" "00206687" "01499" "00206688" "01499" "00206689" "01499" "00206690" "01499" "00206691" "01499" "00206692" "01499" "00206693" "01499" "00206694" "01499" "00206695" "01499" "00206696" "02864" "00206697" "01499" "00206698" "01499" "00206699" "01499" "00206700" "01499" "00206701" "01499" "00206702" "01499" "00206703" "01499" "00206704" "02864" "00206705" "01499" "00206706" "01499" "00206707" "01499" "00206708" "01499" "00206709" "01499" "00206710" "01499" "00206711" "01499" "00206712" "01499" "00206713" "01499" "00206714" "01499" "00206715" "01499" "00206716" "01499" "00206717" "01499" "00206718" "01499" "00206719" "01499" "00206720" "00198" "00206721" "01499" "00275528" "01499" "00291824" "00198" "00291825" "00198" "00291826" "00198" "00291827" "00198" "00291828" "00198" "00295285" "00198" "00304598" "00198" "00305339" "00198" "00363328" "01499" "00419552" "00198" "00448693" "01499" "00453191" "04172" "00453192" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01499, 02864, 03502, 04170, 04172 ## Count = 119 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000100656" "00198" "00128437" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000154480" "01499" "00206609" "03005" "-" "" "LQT, bilateral VT" "" "" "" "" "" "" "" "" "" "" "" "0000154481" "01499" "00206610" "03005" "Familial, autosomal dominant" "" "small chin, prominent U waves and bigeminy, hypokalemia, symptoms disappeared 24h later. Decreasement of the amplitude of th CMAP following long execise test." "15y" "19y" "steroid induced hypokalemic paralysis" "" "" "" "" "" "" "" "" "0000154482" "01499" "00206611" "03005" "Familial, autosomal dominant" "" "Valvular pulmonary stenosis, cardiac arrest, polymorphiventricular tachycardia" "11y" "13y" "polymorphic ventricualr tachycardia" "" "" "" "" "" "" "" "" "0000154483" "01499" "00206612" "03005" "Familial, autosomal dominant" "" "PVC, bigeminy, bidirectional VT, prolonged Quc" "" "" "" "" "" "" "" "" "" "" "" "0000154484" "01499" "00206613" "03005" "Isolated (sporadic)" "" "hypokalemic, bigeminy, polymorphic and bidirectional VT, Micrognathia, slight scoliosis, broad-base nose, low-set ears" "" "" "" "" "" "" "" "" "" "" "" "0000154485" "01499" "00206614" "03005" "-" "" "bigeminy, polymorphic VT, low-set ears, retrognathia. muscle biopsy: tubular aggregates." "" "" "" "" "" "" "" "" "" "" "" "0000154486" "01499" "00206615" "03005" "Isolated (sporadic)" "" "hypokalemia, LQT, painful paralysis. muscle biopsy: tubular aggregates." "9y" "25y" "focal peisodic weakness" "" "" "" "" "" "" "" "" "0000154487" "01499" "00206616" "03005" "Familial, autosomal dominant" "" "hypokalemia. muscle biopsy: myopathic." "13y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154488" "01499" "00206618" "03005" "-" "" "Asymptomatic/polymorphic PVCs, non-specific inferior and lateral T-wave changes" "" "15y" "" "" "" "" "" "" "" "" "" "0000154489" "01499" "00206619" "03005" "Familial" "" "PVC, couplet, bidirectional VT" "" "" "" "" "" "" "" "" "" "" "" "0000154490" "01499" "00206620" "03005" "Familial, autosomal dominant" "" "LQT, elevated CK," "6y" "" "" "" "" "" "" "" "" "" "" "0000154491" "01499" "00206621" "03005" "Isolated (sporadic)" "" "hypokalemic, low-set asymmetrical ears, micrognathia, broad-base nose, hypertelorism, syndactyly of second and third toes, short toes on right foot, LQT, bigeminy, polymorphic VT" "" "" "" "" "" "" "" "" "" "" "" "0000154492" "01499" "00206622" "03005" "-" "" "bilateral syndactyly of toes 2-3, premature ventricular complexes, bigeminy, prominent U waves" "" "28y" "" "" "" "" "" "" "" "" "" "0000154493" "01499" "00206623" "03005" "Familial, autosomal dominant" "" "LQT" "" "" "" "" "" "" "" "" "" "" "" "0000154494" "01499" "00206624" "03005" "Familial, autosomal dominant" "" "complex ventricular ectopy" "10y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154495" "01499" "00206625" "03005" "Familial, autosomal dominant" "" "primary hypothyroidism, ventricular ectopy, LQT, hypermobility of hip joint, U wave, normakalemia" "11y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154496" "01499" "00206626" "03005" "-" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, VT" "5y" "15y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154497" "01499" "00206627" "03005" "Isolated (sporadic)" "" "Clinodactyly, micrognathia, low-set ears, hypertelorism, short stature, normokalemic, bigeminy, bidirectional VT, LQT. muscle biopsy: tubular aggregates." "" "" "" "" "" "" "" "" "" "" "" "0000154498" "01499" "00206628" "03005" "Familial, autosomal dominant" "" "clinodactyly, scoliosis, high arched palate, asymmetrically placed lower mandible, mild varus position, PVC, normokalemia, prominent U wave, non-sustained VT, RBBB" "10y" "15y" "episodic weakness and cardiac rhythm irregularities" "" "" "" "" "" "" "" "" "0000154499" "01499" "00206629" "03005" "Familial, autosomal dominant" "" "syncope, normokalemia, Short stature (1.4m), LQT, bidirectional VT" "" "35y" "syncope" "" "" "" "" "" "" "" "" "0000154500" "01499" "00206630" "03005" "-" "" "sncope/PVCs, bigeminy" "" "14y" "" "" "" "" "" "" "" "" "" "0000154501" "01499" "00206631" "03005" "-" "" "ventricular" "7y" "" "Cardiac onset" "" "" "" "" "" "" "" "" "0000154502" "01499" "00206632" "03005" "Familial, autosomal dominant" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, PVC, U wave. muscle biopsy: tubular aggregates." "4y" "34y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154503" "01499" "00206633" "03005" "-" "" "painful paralysis, hypokalemia. muscle biopsy: vacuolar myopathy." "8y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154504" "01499" "00206634" "03005" "-" "" "Irregular heart rhythm and palpitations, prominent U wave, frequent premature ventricular beats, short runs of VT" "" "6y" "" "" "" "" "" "" "" "" "" "0000154505" "01499" "00206635" "03005" "-" "" "Ventricular ectopy, asymptomatic, bidirectional ventricular tachycardia, polymorphic ventricular tachycardia" "" "" "" "" "" "" "" "" "" "" "" "0000154506" "01499" "00206636" "03005" "-" "" "Ventricular ectopy" "" "" "" "" "" "" "" "" "" "" "" "0000154507" "01499" "00206637" "03005" "-" "" "PVC, bidirectal VT," "" "" "" "" "" "" "" "" "" "" "" "0000154508" "01499" "00206638" "03005" "-" "" "bidirectional VT" "" "" "" "" "" "" "" "" "" "" "" "0000154509" "01499" "00206639" "03005" "Familial, autosomal dominant" "" "hypokalemia" "15y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154510" "01499" "00206640" "03005" "-" "" "bidirectal VT, long QT" "" "" "" "" "" "" "" "" "" "" "" "0000154511" "03502" "00206641" "03005" "Familial, autosomal dominant" "" "paroxysmal atrial fibrillation" "54y" "" "atrial fibrillation" "" "" "" "" "" "" "" "" "0000154512" "01499" "00206642" "03005" "Familial, autosomal recessive" "" "Electrocardiogram showed enlarged U-waves, wide T–U junction, prolonged QUc interval; periodic paralysis, dysmorphological features comprised short stature, low-set ears, hypertelorism, small mandible, high arched palate, dental anomalies, broad nasal root, fifth-digit clinodactyly" "6y" "62y" "" "" "" "" "" "" "" "" "" "0000154513" "01499" "00206643" "03005" "-" "" "LQT, bigeminy, polymorphic VT, nonsustain VT, normokalemia, prolonged T wave, prominent U wave," "12y" "" "" "" "" "" "" "" "" "" "" "0000154514" "01499" "00206644" "03005" "-" "" "bidirectional VT, ICD" "13y" "" "irregular heart rate" "" "" "" "" "" "" "" "" "0000154515" "01499" "00206645" "03005" "-" "" "Prolong of T wave, prominent U wave, nonsustained VT, hypokalemia, micrognathia, hypertelorism" "" "" "" "" "" "" "" "" "" "" "" "0000154516" "01499" "00206646" "03005" "-" "" "CK elevated, muxcle weakness" "18y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154517" "01499" "00206647" "03005" "-" "" "LQT, Bigeminy" "" "" "" "" "" "" "" "" "" "" "" "0000154518" "01499" "00206648" "03005" "Isolated (sporadic)" "" "LQT, Bidirectal VT," "" "" "" "" "" "" "" "" "" "" "" "0000154519" "01499" "00206649" "03005" "Familial, autosomal dominant" "" "PVC, bidirectional VT, polymorphic VT, LQT, prolonged Quc" "12y" "12y" "absorbed sudden death" "" "" "" "" "" "" "" "" "0000154520" "01499" "00206650" "03005" "-" "" "catecholaminergic polymorhpic VT" "" "" "" "" "" "" "" "" "" "" "" "0000154521" "01499" "00206651" "03005" "Isolated (sporadic)" "" "ocular hypertelorism, low-set ear, small mandibled, clinodacytly of the fifth finger, normokalemia, bigeminy, nonsustained VT," "7y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154522" "01499" "00206652" "03005" "Familial, autosomal dominant" "" "scoliosis, ventricular arrhythmia, proximal muscle weakness, hyporeflexia," "" "9y" "" "" "" "" "" "" "" "" "" "0000154523" "01499" "00206653" "03005" "Isolated (sporadic)" "" "PVC, bigeminy, bidirectional VT, polymorphic VT" "" "" "" "" "" "" "" "" "" "" "" "0000154524" "01499" "00206654" "03005" "Familial, autosomal dominant" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, chin hypoplasia, bigeminy. muscle biopsy: normal." "1y" "27y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154525" "01499" "00206655" "03005" "Familial, autosomal dominant" "" "scoliosis, short stature, low-set ears, micrognathia" "" "" "" "" "" "" "" "" "" "" "" "0000154526" "01499" "00206656" "03005" "Isolated (sporadic)" "" "low set ear, micrognathia, oligodontia, bilateral clinodactyly of the third and fourth fingers, hypokalemia, prominent U wave" "11y" "18y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154527" "01499" "00206657" "03005" "Familial, autosomal dominant" "" "cleft palate, short stature, distinctive craniofacial dysmorphism, broad forehead, mild facial asymmetry, downslanting palpebral fissures, thin upper lip, long nose, dental anomalies, high arch palate, proximal weakness of lower limbs, hypokalemic, U wave" "20y" "31y" "painful cramps" "" "" "" "" "" "" "" "" "0000154528" "01499" "00206658" "03005" "-" "" "short stature( height 1.58 m), high broad, prominent forehead, bone malformation (including acnormal radial curbature of the fif digits and non-deviated short toes). hypokalemia, premature beat, Dcreasement of CMAP amplitude in following long exercise. Deltoid muscle biopsy was normal." "14y" "27y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154529" "01499" "00206659" "03005" "Familial, autosomal dominant" "" "bigeminal rhythm, LQT, U wave," "37y" "" "presyncopal spell" "" "" "" "" "" "" "" "" "0000154530" "02864" "00206660" "03005" "Familial, autosomal dominant" "" "short QT syndrome, narrow and peaked T waves" "5y" "5y" "abnormal ECG" "" "" "" "" "" "" "" "" "0000154531" "01499" "00206661" "03005" "Familial" "" "polymorpihc VT, normokalemia, hyperkalemia, hypertelorism, clinodactyly, prominent U wave, nosustained VT, RBBB" "" "" "" "" "" "" "" "" "" "" "" "0000154532" "01499" "00206662" "03005" "Familial, autosomal dominant" "" "hypokalemic, bigeminy, PVC, prominent U wave, scoliosis, high-arched palate, micrognathia, broad-base nose, hypertelorism, low-set ears retrognathia" "" "" "" "" "" "" "" "" "" "" "" "0000154533" "01499" "00206663" "03005" "Familial, autosomal dominant" "" "normokalemia, premature ventricular contractions, LQT, seizure. muscle biopsy: tubular aggregates." "3y" "13y" "periodic paralysis, seizure" "" "" "" "" "" "" "" "" "0000154534" "01499" "00206664" "03005" "Familial, autosomal dominant" "" "PVC, bigeminy, LQT, seizure," "" "" "" "" "" "" "" "" "" "" "" "0000154535" "01499" "00206665" "03005" "-" "" "PVC, nonsustained ventricular tachycardia, palpitations, normokalemia, low-set ears, micrognathia, tapering fingers. endomyocardial biopsy: normal." "13y" "13y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154536" "01499" "00206666" "03005" "-" "" "normokalemia, short stature, low-set ear, hypoplasitc mandible, hypertelosrism, clinodactyly of fifth fingers, submucous cleft palate, bifid uvula, RBBB, LQT, prominent U wave,bidirectional ventricular tachycardia, polymorphic ventricular tachycardia, ASD" "10y" "19y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154537" "01499" "00206667" "03005" "Familial, autosomal dominant" "" "short stature,broad forehead,ocular hypertelorism,small head size,low-set ears, mandibular hypoplasia, clinodactyly of the fifth fingers and toes, quadriparesis with proximal muscle group, hyperreflexia, Babinski\'s sign,hypokalemia,bigeminy,LQT,depression" "27y" "" "four-limb weakness" "" "" "" "" "" "" "" "" "0000154538" "01499" "00206668" "03005" "-" "" "cardiac arrest, ventricular fibrillation, short stature, scolliosis, broad forehead, low-set ears, mandibular micrognathia, clinodadtyly, hyperkalemia,LQT, long Quc interval, U wave, polymorphic ventricular tachycardia. muscle biopsy: tubular aggregates." "8y" "34y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154539" "01499" "00206669" "03005" "-" "" "PVC, bigeminy, polymorphic VT, VF, sudden death, ICD, prolonged Quc, high T&U wave" "" "" "" "" "" "" "" "" "" "" "" "0000154540" "01499" "00206670" "03005" "Familial, autosomal dominant" "" "hypertelorism, low-set ear, small mandible, normokalemia, dizziness" "3y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154541" "01499" "00206671" "03005" "-" "" "LQT, bidirectional VT, cardiac arrest" "4y" "" "" "" "" "" "" "" "" "" "" "0000154542" "01499" "00206672" "03005" "-" "" "normokalemia, supraventricular tachycardia" "5y" "" "periodic paralysis," "" "" "" "" "" "" "" "" "0000154543" "01499" "00206673" "03005" "Familial, autosomal dominant" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U-wave, VT, PVC" "4y" "8y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154544" "01499" "00206674" "03005" "Isolated (sporadic)" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, LQT,U wave, PVC" "8y" "14y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154545" "01499" "00206675" "03005" "Isolated (sporadic)" "" "polymorphic VT, bigeminy" "2y" "" "" "" "" "" "" "" "" "" "" "0000154546" "01499" "00206676" "03005" "-" "" "Bigeminy, non-fatal cardiac arrest, torsades, first-degree A-V block, LQT" "10y" "" "" "" "" "" "" "" "" "" "" "0000154547" "01499" "00206677" "03005" "Isolated (sporadic)" "" "LQT, bigeminy, polymorphic VT" "7y" "" "" "" "" "" "" "" "" "" "" "0000154548" "01499" "00206678" "03005" "-" "" "bigeminy，LQT" "" "" "" "" "" "" "" "" "" "" "" "0000154549" "01499" "00206679" "03005" "Familial, autosomal dominant" "" "hypokalemic, bidirectional VT, polymorphic PVC, prominent U wave, micrognathia, scoliosis, clinodactyly. muscle biopsy: tubular aggregates." "" "" "" "" "" "" "" "" "" "" "" "0000154550" "01499" "00206680" "03005" "Familial, autosomal dominant" "" "ventricular, abnormal dentition, painful paralysis, mild ataxia. her brothers\' muscle biopsies: myopathic, vacuolar myopathy." "9y" "" "cardiac onset" "" "" "" "" "" "" "" "" "0000154551" "01499" "00206681" "03005" "Familial, autosomal dominant" "" "painful paralysis. muscle biopsy: myopathic." "24y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154552" "01499" "00206682" "03005" "Familial, autosomal dominant" "" "PVC, bigeminy, couplet, bidirectional VT, monomorphic VT, syncope, seizure, LQT, prominent U wave" "" "" "" "" "" "" "" "" "" "" "" "0000154553" "01499" "00206683" "03005" "Familial, autosomal dominant" "" "bigeminy, couplet, bidirectional VT, monomorphic VT, prolonged Quc, prominent U wave" "" "" "" "" "" "" "" "" "" "" "" "0000154554" "01499" "00206684" "03005" "Isolated (sporadic)" "" "PVC, couplet, bidirectional VT, prominent U wave" "" "" "" "" "" "" "" "" "" "" "" "0000154555" "01499" "00206685" "03005" "-" "" "hypokalemia, short stature, small with short fifth fingers, bilateral clinodactyly, neurocardiogenic syncope" "15y" "34y" "syncope" "" "" "" "" "" "" "" "" "0000154556" "01499" "00206686" "03005" "Familial, autosomal dominant" "" "cardiac arrest, PVC, ventricular fibrillation, facial asymmetry, clinodactyly of fifth finger, cutaneous syndactyly, RBBB, polymorphic VT, prominent U wave. myocardia biopsy: hypertrophic myocytes with large irregularly shaped hypochromic nuclei, focal interstitial fibrosis." "" "18y" "PVC" "" "" "" "" "" "" "" "" "0000154557" "01499" "00206687" "03005" "-" "" "ventricular ectopy, nonsustain VT, RBBB, prominent U wave, pregnancy" "" "" "" "" "" "" "" "" "" "" "" "0000154558" "01499" "00206688" "03005" "Familial, autosomal dominant" "" "obesity, increased cervical perimeter, weakness of proximal limb muscle, micrognathia, retrognathia, clinodactyly of foruth and fifth fingers, short stateure, arched palate, thoracic scoliosis, normokalemia, LQT, sleepapnea," "5y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154559" "01499" "00206689" "03005" "Familial" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, U wave, LQT,PVC. muscle biopsy: tubular aggregates." "15y" "20y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154560" "01499" "00206690" "03005" "Familial, autosomal dominant" "" "bigeminy, couplet, bidirectional VT" "" "" "" "" "" "" "" "" "" "" "" "0000154561" "01499" "00206691" "03005" "Isolated (sporadic)" "" "bigeminy, couplet, bidirectional VT, prolonged Quc, prominent U wave" "" "" "" "" "" "" "" "" "" "" "" "0000154562" "01499" "00206692" "03005" "Familial, autosomal dominant" "" "hypertelorism, micrognathia, serum potassium mildly decreased, broad-based nose, low-set ears, premature ventricular contraction, ventricular tachycardia, mildly decreased, premature ventricular contractions, ventricular tachycardia, CMAP was decreased," "5y" "19y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154563" "01499" "00206693" "03005" "-" "" "catecholaminergic polymorphic ventricular tachycardia,bidirectional VT,Syncope-exertion, palpitations, Nonsustained PVT, ventricular ectopy, Mild mitral regurgitation, mild thickening of mitral valve leaflets" "" "" "" "" "" "" "" "" "" "" "" "0000154564" "01499" "00206694" "03005" "-" "" "PVC, VT" "" "" "" "" "" "" "" "" "" "" "" "0000154565" "01499" "00206695" "03005" "Isolated (sporadic)" "" "normokalemia, micrognathia, retrognathia, hypertelorism, broad-based nose, clinodactyly of the third digit, syndactyly of toes, polymorphic ventricular tachycardia, bidirectional VT, LQT, long Quc," "" "" "" "" "" "" "" "" "" "" "" "0000154566" "02864" "00206696" "03005" "Isolated (sporadic)" "" "paroxysmal AF, mild left ventricular dysfunction, short QT syndrome" "8y" "11y" "Af" "" "" "" "" "" "" "" "" "0000154567" "01499" "00206697" "03005" "Familial, autosomal dominant" "" "hip subluxaion, bigeminy, ventricular tachycardia" "9y" "24y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154568" "01499" "00206698" "03005" "Familial, autosomal dominant" "" "hypokalemic, bigeminy, shor stature, low-set ears, micrognathia" "" "" "" "" "" "" "" "" "" "" "" "0000154569" "01499" "00206699" "03005" "Familial, autosomal dominant" "" "hypokalemia, mild learning difficulties, short stature, hypertelorism, low-set ears, hypoplastic mandible, clinodactyly, overriding toes, palatal deformity, LQT. muscle biopsy: myopathic." "15y" "15y" "attacks of weakness, intermittent chest pain, recurrent palpitations, syncope" "" "" "" "" "" "" "" "" "0000154570" "01499" "00206700" "03005" "Familial, autosomal dominant" "" "broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, ocular hypertelorism, full nasal bridge with bulbous tip, high arched palate, VT, PVC, LQT. muscle biopsy: tubular aggregates." "2y" "12y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154571" "01499" "00206701" "03005" "-" "" "LQT, polymorphic VT, bigeminy" "19y" "" "" "" "" "" "" "" "" "" "" "0000154572" "01499" "00206702" "03005" "Familial, autosomal dominant" "" "bigeminy, bidirectiona VT, syncope, prolonged Quc, high T&U amplitude" "" "" "" "" "" "" "" "" "" "" "" "0000154573" "01499" "00206703" "03005" "-" "" "pregnancy, syncope, micrognathia, hand clinodactyly, polymorphic PVC, nonsustain VT," "4y" "26y" "ventricular arrhythmia" "" "" "" "" "" "" "" "" "0000154574" "02864" "00206704" "03005" "-" "" "shortened QT interval, paroxysmal AF, VF inducibility, mental retardation, abnormal proliferation of oesophageal blood vessels, epilepsy, Kawasaki disease" "" "8y" "" "" "" "" "" "" "" "" "" "0000154575" "01499" "00206705" "03005" "-" "" "RBBB, bigeminy" "" "" "" "" "" "" "" "" "" "" "" "0000154576" "01499" "00206706" "03005" "-" "" "PVC, bilateral VT" "1y" "" "paralysis" "" "" "" "" "" "" "" "" "0000154577" "01499" "00206707" "03005" "-" "" "LQT, PVC" "" "" "" "" "" "" "" "" "" "" "" "0000154578" "01499" "00206708" "03005" "-" "" "Asymptomatic/ventricular ectopy, polymorphic VT, flattening of T-waves" "" "11y" "" "" "" "" "" "" "" "" "" "0000154579" "01499" "00206709" "03005" "Familial, autosomal dominant" "" "muscle pain, ventricular arrhythmia, bidirectional tachycardia and extrasystolis in ECG. muscle biopsy: normal." "10y" "23y" "muscle pain" "" "" "" "" "" "" "" "" "0000154580" "01499" "00206710" "03005" "Familial" "" "cardiac arrest, VF, PVC, bigeminy, trigeminy, bidirectional VT, short stature(1.52), hypertelorism, micrognathia, low-set ear, prominent U wave," "14y" "37y" "PVC" "" "" "" "" "" "" "" "" "0000154581" "01499" "00206711" "03005" "Familial, autosomal dominant" "" "hypertelorism, micrognathia,Clinodactyly, a broad-based nose, low-set ears, CMAP decrease, normokalemia, asymptomatic premature ventricular, weakness was 2–3 days" "11y" "16y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154582" "01499" "00206712" "03005" "Familial" "" "Dcreasement of CMAP amplitude in long exercise, attack last 1-2 weeks, normakalemia, Short stature (1.56m), low-set ear, broad forehead, short philtrum, cognitive impairement, palpitations, bigeminy, right bundle branch block, ventricular tachycardia" "12y" "" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154583" "01499" "00206713" "03005" "-" "" "PVC, bigeminy, couplet, bidirectional, malaise" "" "" "" "" "" "" "" "" "" "" "" "0000154584" "01499" "00206714" "03005" "Familial, autosomal dominant" "" "hypokalemic, long QT" "" "" "" "" "" "" "" "" "" "" "" "0000154585" "01499" "00206715" "03005" "Familial, autosomal dominant" "" "hypokalemic, pain associated with sustained cramps in the lower legs, short palpebral fissures, thin upper lips, high arched palate, mild facial asymmetry, long nose, U waves. muscle biopsy: normal." "29y" "37y" "hypokalemic periodic paralysis" "" "" "" "" "" "" "" "" "0000154586" "01499" "00206716" "03005" "Isolated (sporadic)" "" "Broad forehead, short palpebral fissures, malar/maxillary/mandibular hypoplasia, thin upper lip, high arched palate, triangular facies, mild facial asymmetry, prominent U wave, LQT, VT" "2y" "5y" "periodic paralysis" "" "" "" "" "" "" "" "" "0000154587" "01499" "00206717" "03005" "-" "" "syncope, ICD" "" "" "" "" "" "" "" "" "" "" "" "0000154588" "01499" "00206718" "03005" "Isolated (sporadic)" "" "QU prolongation, prominent U waves" "12y" "13y" "muscle weakness during hard exercise" "" "" "" "" "" "" "" "" "0000154589" "01499" "00206719" "03005" "-" "" "silent mutation" "" "" "" "" "" "" "" "" "" "" "" "0000154590" "00198" "00206720" "03005" "-" "" "silent mutation" "" "" "" "" "" "" "" "" "" "" "" "0000154591" "01499" "00206721" "03005" "-" "" "cardiac arrest, ventricular fibrillation, normokalemia, LQT," "53y" "53y" "cardiac arrest" "" "" "" "" "" "" "" "" "0000210168" "01499" "00275528" "03547" "Isolated (sporadic)" "35y" "Multiple PVCs (HP:0006682)\r\nNon-sustained ventricular tachycardia (HP:0004756). \r\npolymorphic and bidirectional VT at rest and exercise (HP:0005147).\r\nTachycardia-induced cardiomyopathy (HP:0001638)." "" "35y" "" "" "" "" "" "" "Andersen-Tawil syndrome (ATS) type-1" "" "" "0000258693" "01499" "00363328" "01164" "Unknown" "" "Periodic paralysis, intermittent paresis of the upper limb and lower limb, electrolytes within normal range." "" "" "" "" "" "" "" "" "18" "" "" "0000310833" "00198" "00419552" "02300" "Familial, autosomal dominant" "1y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000337867" "01499" "00448693" "01164" "Unknown" "00y06m" "Cleft palate, Sacral dimple, Contracture of thumb" "" "" "" "" "" "" "" "" "" "" "" "0000341837" "04172" "00453191" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341838" "04172" "00453192" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 129 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029019" "00028978" "1" "00066" "00066" "2015-01-12 15:50:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000129275" "00128437" "1" "02244" "02244" "2017-09-15 17:07:58" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000207643" "00206609" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207644" "00206610" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207645" "00206611" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207646" "00206612" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC" "DNA" "" "" "0000207647" "00206613" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207648" "00206614" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207649" "00206615" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207650" "00206616" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207651" "00206617" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207652" "00206618" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207653" "00206619" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207654" "00206620" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207655" "00206621" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207656" "00206622" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207657" "00206623" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207658" "00206624" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ;ARMS" "DNA" "" "" "0000207659" "00206625" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207660" "00206626" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207661" "00206627" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207662" "00206628" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207663" "00206629" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207664" "00206630" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207665" "00206631" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207666" "00206632" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207667" "00206633" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207668" "00206634" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207669" "00206635" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207670" "00206636" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207671" "00206637" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207672" "00206638" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207673" "00206639" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207674" "00206640" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207675" "00206641" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207676" "00206642" "1" "03005" "03005" "2013-01-18 09:42:08" "00006" "2013-01-20 13:20:01" "SEQ" "DNA" "" "" "0000207677" "00206643" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207678" "00206644" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207679" "00206645" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207680" "00206646" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207681" "00206647" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207682" "00206648" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA" "DNA" "" "" "0000207683" "00206649" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207684" "00206650" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207685" "00206651" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207686" "00206652" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ;ARMS" "DNA" "" "" "0000207687" "00206653" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207688" "00206654" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207689" "00206655" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207690" "00206656" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207691" "00206657" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207692" "00206658" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207693" "00206659" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207694" "00206660" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC" "DNA" "" "" "0000207695" "00206661" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207696" "00206662" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207697" "00206663" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA" "DNA" "" "" "0000207698" "00206664" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207699" "00206665" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA" "DNA" "" "" "0000207700" "00206666" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207701" "00206667" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207702" "00206668" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207703" "00206669" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207704" "00206670" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207705" "00206671" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207706" "00206672" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207707" "00206673" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207708" "00206674" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207709" "00206675" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207710" "00206676" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207711" "00206677" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207712" "00206678" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207713" "00206679" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207714" "00206680" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207715" "00206681" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207716" "00206682" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207717" "00206683" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207718" "00206684" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207719" "00206685" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207720" "00206686" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "?" "" "" "0000207721" "00206687" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207722" "00206688" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207723" "00206689" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207724" "00206690" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207725" "00206691" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207726" "00206692" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207727" "00206693" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207728" "00206694" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207729" "00206695" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207730" "00206696" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207731" "00206697" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207732" "00206698" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207733" "00206699" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207734" "00206700" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA" "DNA" "" "" "0000207735" "00206701" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA" "DNA" "" "" "0000207736" "00206702" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207737" "00206703" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207738" "00206704" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207739" "00206705" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207740" "00206706" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207741" "00206707" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCRms" "DNA" "" "" "0000207742" "00206708" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "PCR;DHPLC;SEQ" "DNA" "" "" "0000207743" "00206709" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207744" "00206710" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207745" "00206711" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207746" "00206712" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207747" "00206713" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207748" "00206714" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207749" "00206715" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000207750" "00206716" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;PCRms" "DNA" "" "" "0000207751" "00206717" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SSCA;DHPLC;SEQ" "DNA" "" "" "0000207752" "00206718" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "SEQ" "DNA" "" "" "0000207753" "00206719" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "DNA" "" "" "0000207754" "00206720" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "DHPLC;SEQ" "DNA" "" "" "0000207755" "00206721" "1" "03005" "03005" "2013-05-22 12:31:07" "" "" "?" "?" "" "" "0000276704" "00275528" "1" "03547" "03547" "2020-01-07 08:35:11" "03547" "2020-01-07 09:13:56" "PCR;SEQ" "DNA" "peripheral blood mononuclear cells" "" "0000292992" "00291824" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292993" "00291825" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292994" "00291826" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292995" "00291827" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292996" "00291828" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296453" "00295285" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305727" "00304598" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306468" "00305339" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364556" "00363328" "1" "01164" "01164" "2021-04-26 17:43:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000420856" "00419552" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000450284" "00448693" "1" "01164" "01164" "2024-04-12 11:29:59" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000454802" "00453191" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454803" "00453192" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 122 "{{screeningid}}" "{{geneid}}" "0000207643" "KCNJ2" "0000207644" "KCNJ2" "0000207645" "KCNJ2" "0000207646" "KCNJ2" "0000207647" "KCNJ2" "0000207648" "KCNJ2" "0000207649" "KCNJ2" "0000207650" "KCNJ2" "0000207651" "KCNJ2" "0000207652" "KCNJ2" "0000207653" "KCNJ2" "0000207654" "KCNJ2" "0000207655" "KCNJ2" "0000207656" "KCNJ2" "0000207657" "KCNJ2" "0000207658" "KCNJ2" "0000207659" "KCNJ2" "0000207660" "KCNJ2" "0000207661" "KCNJ2" "0000207662" "KCNJ2" "0000207663" "KCNJ2" "0000207664" "KCNJ2" "0000207665" "KCNJ2" "0000207666" "KCNJ2" "0000207667" "KCNJ2" "0000207668" "KCNJ2" "0000207669" "KCNJ2" "0000207670" "KCNJ2" "0000207671" "KCNJ2" "0000207672" "KCNJ2" "0000207673" "KCNJ2" "0000207674" "KCNJ2" "0000207675" "KCNJ2" "0000207676" "KCNJ2" "0000207677" "KCNJ2" "0000207678" "KCNJ2" "0000207679" "KCNJ2" "0000207680" "KCNJ2" "0000207681" "KCNJ2" "0000207682" "KCNJ2" "0000207683" "KCNJ2" "0000207684" "KCNJ2" "0000207685" "KCNJ2" "0000207686" "KCNJ2" "0000207687" "KCNJ2" "0000207688" "KCNJ2" "0000207689" "KCNJ2" "0000207690" "KCNJ2" "0000207691" "KCNJ2" "0000207692" "KCNJ2" "0000207693" "KCNJ2" "0000207694" "KCNJ2" "0000207695" "KCNJ2" "0000207696" "KCNJ2" "0000207697" "KCNJ2" "0000207698" "KCNJ2" "0000207699" "KCNJ2" "0000207700" "KCNJ2" "0000207701" "KCNJ2" "0000207702" "KCNJ2" "0000207703" "KCNJ2" "0000207704" "KCNJ2" "0000207705" "KCNJ2" "0000207706" "KCNJ2" "0000207707" "KCNJ2" "0000207708" "KCNJ2" "0000207709" "KCNJ2" "0000207710" "KCNJ2" "0000207711" "KCNJ2" "0000207712" "KCNJ2" "0000207713" "KCNJ2" "0000207714" "KCNJ2" "0000207715" "KCNJ2" "0000207716" "KCNJ2" "0000207717" "KCNJ2" "0000207718" "KCNJ2" "0000207719" "KCNJ2" "0000207720" "KCNJ2" "0000207721" "KCNJ2" "0000207722" "KCNJ2" "0000207723" "KCNJ2" "0000207724" "KCNJ2" "0000207725" "KCNJ2" "0000207726" "KCNJ2" "0000207727" "KCNJ2" "0000207728" "KCNJ2" "0000207729" "KCNJ2" "0000207730" "KCNJ2" "0000207731" "KCNJ2" "0000207732" "KCNJ2" "0000207733" "KCNJ2" "0000207734" "KCNJ2" "0000207735" "KCNJ2" "0000207736" "KCNJ2" "0000207737" "KCNJ2" "0000207738" "KCNJ2" "0000207739" "KCNJ2" "0000207740" "KCNJ2" "0000207741" "KCNJ2" "0000207742" "KCNJ2" "0000207743" "KCNJ2" "0000207744" "KCNJ2" "0000207745" "KCNJ2" "0000207746" "KCNJ2" "0000207747" "KCNJ2" "0000207748" "KCNJ2" "0000207749" "KCNJ2" "0000207750" "KCNJ2" "0000207751" "KCNJ2" "0000207752" "KCNJ2" "0000207753" "KCNJ2" "0000207754" "KCNJ2" "0000207755" "KCNJ2" "0000276704" "KCNE1" "0000276704" "KCNE2" "0000276704" "KCNH2" "0000276704" "KCNJ2" "0000276704" "KCNQ1" "0000276704" "RYR2" "0000276704" "SCN5A" "0000364556" "KCNJ2" "0000450284" "KCNJ2" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 196 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000052359" "1" "50" "17" "68171712" "68171712" "subst" "0" "00066" "KCNJ2_000070" "g.68171712G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.70175571G>A" "" "VUS" "" "0000218427" "0" "50" "17" "68172153" "68172153" "subst" "4.0625E-5" "02244" "KCNJ2_000071" "g.68172153C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.70176012C>T" "" "VUS" "" "0000247485" "0" "50" "17" "68172133" "68172133" "subst" "2.84373E-5" "02330" "KCNJ2_000077" "g.68172133A>G" "" "" "" "KCNJ2(NM_000891.3):c.953A>G (p.N318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175992A>G" "" "VUS" "" "0000278358" "0" "10" "17" "68172326" "68172326" "subst" "0.13638" "02330" "KCNJ2_000062" "g.68172326C>T" "" "" "" "KCNJ2(NM_000891.2):c.1146C>T (p.L382=), KCNJ2(NM_000891.3):c.1146C>T (p.L382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70176185C>T" "" "benign" "" "0000278359" "0" "10" "17" "68171354" "68171354" "subst" "0.000146196" "02330" "KCNJ2_000072" "g.68171354C>T" "" "" "" "KCNJ2(NM_000891.3):c.174C>T (p.F58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175213C>T" "" "benign" "" "0000278360" "0" "50" "17" "68171388" "68171388" "subst" "4.87302E-5" "02330" "KCNJ2_000073" "g.68171388G>T" "" "" "" "KCNJ2(NM_000891.2):c.208G>T (p.(Ala70Ser)), KCNJ2(NM_000891.3):c.208G>T (p.A70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175247G>T" "" "VUS" "" "0000278361" "0" "50" "17" "68171428" "68171428" "subst" "0" "02330" "KCNJ2_000074" "g.68171428G>T" "" "" "" "KCNJ2(NM_000891.3):c.248G>T (p.W83L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175287G>T" "" "VUS" "" "0000278362" "0" "10" "17" "68171840" "68171840" "subst" "0.0164232" "02330" "KCNJ2_000075" "g.68171840C>T" "" "" "" "KCNJ2(NM_000891.3):c.660C>T (p.S220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175699C>T" "" "benign" "" "0000285519" "0" "10" "17" "68172326" "68172326" "subst" "0.13638" "02326" "KCNJ2_000062" "g.68172326C>T" "" "" "" "KCNJ2(NM_000891.2):c.1146C>T (p.L382=), KCNJ2(NM_000891.3):c.1146C>T (p.L382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70176185C>T" "" "benign" "" "0000290063" "0" "50" "17" "68172101" "68172101" "subst" "0" "01943" "KCNJ2_000076" "g.68172101G>C" "" "" "" "KCNJ2(NM_000891.2):c.921G>C (p.M307I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70175960G>C" "" "VUS" "" "0000437350" "1" "55" "17" "68171298" "68171298" "subst" "0" "03005" "KCNJ2_000002" "g.68171298C>T" "" "{PMID:Kuramoto 2012:22739561}" "" "" "cytoplamic, N-terminus" "Unknown" "" "" "0" "" "" "g.70175157C>T" "" "VUS" "" "0000437351" "1" "95" "17" "68171341" "68171341" "subst" "0" "03005" "KCNJ2_000003" "g.68171341G>T" "" "{PMID:Bendahhou 2007:17324964}" "" "" "cytoplasmic" "Germline" "" "" "0" "" "" "g.70175200G>T" "" "pathogenic" "" "0000437352" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "41/77 in the family" "{PMID:Andelfinger 2002:12148092}" "" "" "PIP2 binding, cytoplasmic" "Germline" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437353" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "KJ-01, PIP2 binding, cytoplasmic" "Germline" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437354" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "2/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "PIP2 binding, cytoplasmic" "De novo" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437355" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "2/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "PIP2 binding, cytoplasmic" "Unknown" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437356" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "2/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "PIP2 binding, cytoplasmic" "De novo" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437357" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "2/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "PIP2 binding, cytoplasmic" "Germline" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437358" "1" "95" "17" "68171379" "68171379" "subst" "0" "03005" "KCNJ2_000004" "g.68171379C>T" "" "{PMID:Kimura 2012:22589293}" "" "" "PIP2 binding, cytoplasmic" "Unknown" "" "" "0" "" "" "g.70175238C>T" "" "pathogenic" "" "0000437359" "1" "75" "17" "68171380" "68171380" "subst" "0" "03005" "KCNJ2_000005" "g.68171380G>A" "1/541 patients*" "{PMID:Eckhardt 2007:17341397}" "" "" "PIP2 binding, no dominant negative effect when co-expressed with WT, cytoplasmic / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)" "Unknown" "" "" "0" "" "" "g.70175239G>A" "" "likely pathogenic" "" "0000437360" "1" "95" "17" "68171380" "68171380" "subst" "0" "03005" "KCNJ2_000005" "g.68171380G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "Kindred 323, PIP2 binding, trafficking defect, dominant negative effect" "Germline" "" "" "0" "" "" "g.70175239G>A" "" "pathogenic" "" "0000437361" "1" "75" "17" "68171382" "68171382" "subst" "0" "03005" "KCNJ2_000006" "g.68171382T>G" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, slide helix" "Germline" "" "" "0" "" "" "g.70175241T>G" "" "likely pathogenic" "" "0000437362" "1" "55" "17" "68171391" "68171391" "subst" "0" "03005" "KCNJ2_000007" "g.68171391G>A" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "cytoplasmic, slide helix" "De novo" "" "" "0" "" "" "g.70175250G>A" "" "VUS" "" "0000437363" "1" "95" "17" "68171391" "68171391" "subst" "0" "03005" "KCNJ2_000008" "g.68171391G>T" "" "{PMID:Marrus 2011:22186697}" "" "" "cytoplasmic, slide helix" "Unknown" "" "" "0" "" "" "g.70175250G>T" "" "pathogenic" "" "0000437364" "1" "95" "17" "68171392" "68171392" "subst" "0" "03005" "KCNJ2_000009" "g.68171392A>T" "1/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, slide helix, dominant negative" "Germline" "" "" "0" "" "" "g.70175251A>T" "" "pathogenic" "" "0000437365" "1" "95" "17" "68171400" "68171400" "subst" "0" "03005" "KCNJ2_000010" "g.68171400A>G" "" "{PMID:Ballester 2006:16541386}" "" "" "slide helix, channel gating, PIP2 sensitivity" "Germline" "" "" "0" "" "" "g.70175259A>G" "" "pathogenic" "" "0000437366" "1" "95" "17" "68171403" "68171403" "subst" "0" "03005" "KCNJ2_000011" "g.68171403A>G" "1/188 LQT patients" "{PMID:Fodstad 2004:15276028}" "" "" "cytoplasmic, slide helix, dominant negative effect" "Germline" "" "" "0" "" "" "g.70175262A>G" "" "pathogenic" "" "0000437367" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000012" "g.68171404C>G" "" "{PMID:Yoon 2006:16419128}" "" "" "cytoplasmic, slide helix" "Unknown" "" "" "0" "" "" "g.70175263C>G" "" "pathogenic" "" "0000437368" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000012" "g.68171404C>G" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "cytoplasmic, slide helix" "De novo" "" "" "0" "" "" "g.70175263C>G" "" "pathogenic" "" "0000437369" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000012" "g.68171404C>G" "" "{PMID:Lu 2006:16571646}" "" "" "cytoplasmic, slide helix" "Germline" "" "" "0" "" "" "g.70175263C>G" "" "pathogenic" "" "0000437370" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000013" "g.68171404C>T" "" "{PMID:Tani 2007:17582433}" "" "" "cytoplasmic region, slide helix, N-terminus, defective tafficking, no dominant negative effect" "Germline" "" "" "0" "" "" "g.70175263C>T" "" "pathogenic" "" "0000437371" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000013" "g.68171404C>T" "1/541 patients*" "{PMID:Eckhardt 2007:17341397}" "" "" "cytoplasmic region, slide helix, N-terminus, dominant negative effect, normal trafficking / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)" "Unknown" "" "" "0" "" "" "g.70175263C>T" "" "pathogenic" "" "0000437372" "1" "95" "17" "68171404" "68171404" "subst" "0" "03005" "KCNJ2_000013" "g.68171404C>T" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, slide helix, dominant negative effect" "Unknown" "" "" "0" "" "" "g.70175263C>T" "" "pathogenic" "" "0000437373" "1" "55" "17" "68171412" "68171412" "subst" "0" "03005" "KCNJ2_000014" "g.68171412G>T" "" "{PMID:Yoon 2006:16419128}" "" "" "cytoplasmic, slide helix" "Unknown" "" "" "0" "" "" "g.70175271G>T" "" "VUS" "" "0000437374" "1" "95" "17" "68171413" "68171413" "subst" "0" "03005" "KCNJ2_000015" "g.68171413A>G" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, slide helix" "Unknown" "" "" "0" "" "" "g.70175272A>G" "" "pathogenic" "" "0000437375" "1" "95" "17" "68171424" "68171424" "subst" "0" "03005" "KCNJ2_000016" "g.68171424C>T" "1/541 patients*" "{PMID:Eckhardt 2007:17341397}" "" "" "M1 / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)" "Unknown" "" "" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000437376" "1" "95" "17" "68171424" "68171424" "subst" "0" "03005" "KCNJ2_000016" "g.68171424C>T" "2/541 patients*" "{PMID:Tester 2006:16818210}" "" "" "M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients" "Unknown" "" "" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000437377" "1" "95" "17" "68171424" "68171424" "subst" "0" "03005" "KCNJ2_000016" "g.68171424C>T" "2/541 patients*" "{PMID:Tester 2006:16818210}" "" "" "M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients" "Unknown" "" "" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000437378" "1" "95" "17" "68171424" "68171424" "subst" "0" "03005" "KCNJ2_000016" "g.68171424C>T" "" "{PMID:Kimura 2012:22589293}" "" "" "M1" "Unknown" "" "" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000437379" "1" "95" "17" "68171424" "68171424" "subst" "0" "03005" "KCNJ2_000016" "g.68171424C>T" "" "{PMID:Kuramoto 2012:22739561}" "" "" "M1, KCNH2 P1093L" "Unknown" "" "" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000437380" "1" "95" "17" "68171425" "68171425" "subst" "0" "03005" "KCNJ2_000017" "g.68171425G>A" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "M1" "Germline" "" "" "0" "" "" "g.70175284G>A" "" "pathogenic" "" "0000437381" "1" "95" "17" "68171425" "68171425" "subst" "0" "03005" "KCNJ2_000017" "g.68171425G>A" "" "{PMID:Kimura 2012:22589293}" "" "" "M1" "Unknown" "" "" "0" "" "" "g.70175284G>A" "" "pathogenic" "" "0000437382" "1" "95" "17" "68171457" "68171457" "subst" "0.000158372" "03005" "KCNJ2_000018" "g.68171457G>A" "1/30 AF families" "{PMID:Xia 2005:15922306}" "" "" "M1" "Germline" "" "" "0" "" "" "g.70175316G>A" "" "pathogenic" "" "0000437383" "3" "75" "17" "68171461" "68171461" "subst" "0" "03005" "KCNJ2_000001" "g.68171461T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70175320T>C" "" "likely pathogenic" "" "0000437384" "1" "95" "17" "0" "0" "" "0" "03005" "KCNJ2_000019" "g.?" "1/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "M1, buried residue, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000437385" "1" "95" "17" "68171481" "68171481" "subst" "0" "03005" "KCNJ2_000020" "g.68171481T>C" "" "{PMID:Chun 2004:15851159}" "" "" "M1, lipid-facing" "Unknown" "" "" "0" "" "" "g.70175340T>C" "" "pathogenic" "" "0000437386" "1" "95" "17" "68171481" "68171481" "subst" "0" "03005" "KCNJ2_000020" "g.68171481T>C" "" "{PMID:Zhang 2005:15911703} {PMID:Ballester 2006:16541386}" "" "" "M1, lipid-facing" "Unknown" "" "" "0" "" "" "g.70175340T>C" "" "pathogenic" "" "0000437387" "1" "75" "17" "68171548" "68171548" "subst" "0" "03005" "KCNJ2_000021" "g.68171548T>G" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "pore region" "Unknown" "" "" "0" "" "" "g.70175407T>G" "" "likely pathogenic" "" "0000437388" "1" "95" "17" "68171587" "68171587" "subst" "0" "03005" "KCNJ2_000022" "g.68171587C>T" "1/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "pore helix" "Unknown" "" "" "0" "" "" "g.70175446C>T" "" "pathogenic" "" "0000437389" "1" "95" "17" "68171610" "68171610" "subst" "0" "03005" "KCNJ2_000023" "g.68171610G>A" "1/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "De novo" "" "" "0" "" "" "g.70175469G>A" "" "pathogenic" "" "0000437390" "1" "95" "17" "68171610" "68171610" "subst" "0" "03005" "KCNJ2_000023" "g.68171610G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG, heterozygous for a KCNQ1 mutation (c.1022C>T" "Germline" "" "" "0" "" "" "g.70175469G>A" "" "pathogenic" "" "0000437391" "1" "95" "17" "68171611" "68171611" "subst" "0" "03005" "KCNJ2_000024" "g.68171611G>A" "" "{PMID:Kimura 2012:22589293}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "Unknown" "" "" "0" "" "" "g.70175470G>A" "" "pathogenic" "" "0000437392" "1" "95" "17" "68171611" "68171611" "subst" "0" "03005" "KCNJ2_000024" "g.68171611G>A" "" "{PMID:Lim 2010:20382953}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "De novo" "" "" "0" "" "" "g.70175470G>A" "" "pathogenic" "" "0000437393" "1" "95" "17" "68171611" "68171611" "subst" "0" "03005" "KCNJ2_000025" "g.68171611G>C" "" "{PMID:Ballester 2006:16541386}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "Germline" "" "" "0" "" "" "g.70175470G>C" "" "pathogenic" "" "0000437394" "1" "95" "17" "68171616" "68171616" "subst" "0" "03005" "KCNJ2_000026" "g.68171616G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect" "De novo" "" "" "0" "" "" "g.70175475G>A" "" "pathogenic" "" "0000437395" "1" "55" "17" "68171617" "68171617" "subst" "0" "03005" "KCNJ2_000027" "g.68171617G>A" "" "{PMID:Yoon 2006:16419128}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "Germline" "" "" "0" "" "" "g.70175476G>A" "" "VUS" "" "0000437396" "1" "55" "17" "68171617" "68171617" "subst" "0" "03005" "KCNJ2_000027" "g.68171617G>A" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG" "Germline" "" "" "0" "" "" "g.70175476G>A" "" "VUS" "" "0000437397" "1" "55" "17" "68171617" "68171617" "subst" "0" "03005" "KCNJ2_000028" "g.68171617G>C" "" "{PMID:Kim 2009:19931173}" "" "" "G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect" "De novo" "" "" "0" "" "" "g.70175476G>C" "" "VUS" "" "0000437398" "1" "75" "17" "68171641" "68171641" "subst" "0" "03005" "KCNJ2_000029" "g.68171641G>A" "" "{PMID:Sacconi 2009:19570891}" "" "" "M2, C154 and C122 critical for proper channel folding" "Germline" "" "" "0" "" "" "g.70175500G>A" "" "likely pathogenic" "" "0000437399" "1" "75" "17" "68171641" "68171641" "subst" "0" "03005" "KCNJ2_000030" "g.68171641G>T" "" "{PMID:Bendahhou 2005:1464553}" "" "" "M2, C154 and C122 critical for proper channel folding" "Unknown" "" "" "0" "" "" "g.70175500G>T" "" "likely pathogenic" "" "0000437400" "1" "95" "17" "68171668" "68171673" "del" "0" "03005" "KCNJ2_000031" "g.68171668_68171673del" "1/188 LQT patients" "{PMID:Fodstad 2004:15276028}" "" "" "M2, 164; buried residue" "De novo" "" "" "0" "" "" "g.70175527_70175532del" "" "pathogenic" "" "0000437401" "1" "95" "17" "68171694" "68171694" "subst" "0" "03005" "KCNJ2_000032" "g.68171694G>A" "" "{PMID:Priori 2005:15761194} {PMID:El Harchi 2009:19285083}" "" "" "M2, pore-lining, control of polyamine-mediated channel gating, rectification" "Germline" "" "" "0" "" "" "g.70175553G>A" "" "pathogenic" "" "0000437402" "1" "95" "17" "68171737" "68171737" "subst" "0" "03005" "KCNJ2_000033" "g.68171737C>T" "" "{PMID:Tristani 2002:12163457}" "" "" "cytoplasmic, PKKR motif (186-189) implicated in binding PIP2" "Unknown" "" "" "0" "" "" "g.70175596C>T" "" "pathogenic" "" "0000437403" "1" "55" "17" "68171746" "68171746" "subst" "0" "03005" "KCNJ2_000034" "g.68171746G>T" "1/17 ATS probands" "{PMID:Donaldson, 2003:12796536}" "" "" "cytoplasmic, PKKR motif, PIP2 binding" "Germline" "" "" "0" "" "" "g.70175605G>T" "" "VUS" "" "0000437404" "1" "95" "17" "68171754" "68171754" "subst" "0" "03005" "KCNJ2_000035" "g.68171754A>G" "" "{PMID:Ai 2002:12045162}" "" "" "phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain" "Germline" "" "" "0" "" "" "g.70175613A>G" "" "pathogenic" "" "0000437405" "1" "95" "17" "68171754" "68171754" "subst" "0" "03005" "KCNJ2_000035" "g.68171754A>G" "" "{PMID:Haruna 2007:17221872}" "" "" "phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain" "Germline" "" "" "0" "" "" "g.70175613A>G" "" "pathogenic" "" "0000437406" "1" "95" "17" "68171754" "68171754" "subst" "0" "03005" "KCNJ2_000035" "g.68171754A>G" "" "{PMID:Nagase 2007:17399643}" "" "" "phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain" "Unknown" "" "" "0" "" "" "g.70175613A>G" "" "pathogenic" "" "0000437407" "1" "95" "17" "68171754" "68171754" "subst" "0" "03005" "KCNJ2_000035" "g.68171754A>G" "" "{PMID:Nagashima 2010:20609799}" "" "" "phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain" "Unknown" "" "" "0" "" "" "g.70175613A>G" "" "pathogenic" "" "0000437408" "1" "55" "17" "68171755" "68171755" "subst" "0" "03005" "KCNJ2_000036" "g.68171755C>T" "" "{PMID:Chan 2010:20111058}" "" "" "phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain" "Germline" "" "" "0" "" "" "g.70175614C>T" "" "VUS" "" "0000437409" "1" "95" "17" "68171824" "68171824" "subst" "0" "03005" "KCNJ2_000037" "g.68171824G>A" "" "{PMID:Hosaka 2003:12689820}" "" "" "C-terminus, essential for the aassembly of Kir2.1" "Unknown" "" "" "0" "" "" "g.70175683G>A" "" "pathogenic" "" "0000437410" "1" "95" "17" "68171824" "68171824" "subst" "0" "03005" "KCNJ2_000037" "g.68171824G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "C-terminus, essential for the aassembly of Kir2.1" "Unknown" "" "" "0" "" "" "g.70175683G>A" "" "pathogenic" "" "0000437411" "1" "95" "17" "68171824" "68171824" "subst" "0" "03005" "KCNJ2_000037" "g.68171824G>A" "" "{PMID:Lim 2010:20382953}" "" "" "C-terminus, essential for the aassembly of Kir2.1" "Germline" "" "" "0" "" "" "g.70175683G>A" "" "pathogenic" "" "0000437412" "1" "95" "17" "68171826" "68171826" "subst" "0" "03005" "KCNJ2_000038" "g.68171826A>C" "" "{PMID:Tristani 2002:12163457}" "" "" "CD loop of cytosolic domain, affect the sensitivity to cholesterol" "Unknown" "" "" "0" "" "" "g.70175685A>C" "" "pathogenic" "" "0000437413" "1" "95" "17" "68171830" "68171830" "subst" "0" "03005" "KCNJ2_000039" "g.68171830T>C" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic" "Unknown" "" "" "0" "" "" "g.70175689T>C" "" "pathogenic" "" "0000437414" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Lange 2003:12909315} {PMID:Yoon 2006:16419128}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437415" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "4/16 ATS families" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, CD loop,PIP2 binding, interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437416" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "4/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, CD loop,interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437417" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "4/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, CD loop,PIP2 binding, interaction with Thr309" "Unknown" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437418" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "4/16 ATS families" "{PMID:Tristani 2002:12163457}" "" "" "Kindred2679, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437419" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Tristani 2002:12163457}" "" "" "Kindred7480, cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Unknown" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437420" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437421" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "2/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437422" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "2/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Unknown" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437423" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437424" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437425" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437426" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Weir 2011:19223265}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437427" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Schoonderwoerd 2006:17074642}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437428" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Subbiah 2008:18554214}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Unknown" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437429" "1" "95" "17" "68171832" "68171832" "subst" "0" "03005" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Tengan 2006:17119796}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175691C>T" "" "pathogenic" "" "0000437430" "1" "95" "17" "68171833" "68171833" "subst" "0" "03005" "KCNJ2_000041" "g.68171833G>A" "1/16 ATS families" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, CD loop,PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175692G>A" "" "pathogenic" "" "0000437431" "1" "95" "17" "68171833" "68171833" "subst" "0" "03005" "KCNJ2_000041" "g.68171833G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175692G>A" "" "pathogenic" "" "0000437432" "1" "95" "17" "68171833" "68171833" "subst" "0" "03005" "KCNJ2_000041" "g.68171833G>A" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "De novo" "" "" "0" "" "" "g.70175692G>A" "" "pathogenic" "" "0000437433" "1" "95" "17" "68171833" "68171833" "subst" "0" "03005" "KCNJ2_000041" "g.68171833G>A" "" "{PMID:Choi 2007:17211524}" "" "" "cytoplasmic, CD loop, PIP2 binding, interaction with Thr309" "Germline" "" "" "0" "" "" "g.70175692G>A" "" "pathogenic" "" "0000437434" "1" "95" "17" "68171859" "68171859" "subst" "0" "03005" "KCNJ2_000042" "g.68171859G>T" "1/541 patients*" "{PMID:Tester 2006:16818210}" "" "" "protein kinase A-dependent pathological phenotype, cytoplasmic, C-terminus / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients" "Unknown" "" "" "0" "" "" "g.70175718G>T" "" "pathogenic" "" "0000437435" "1" "55" "17" "0" "0" "ins" "0" "03005" "KCNJ2_000043" "g.?" "" "{PMID:Kimura 2012:22589293}" "" "" "cytoplamic pore, C-terminus" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000437436" "1" "95" "17" "68171959" "68171959" "subst" "0" "03005" "KCNJ2_000044" "g.68171959G>C" "" "{PMID:Barajas 2011:21148745}" "" "" "cytoplasmic, cytoplasmic pore" "De novo" "" "" "0" "" "" "g.70175818G>C" "" "pathogenic" "" "0000437437" "1" "95" "17" "68172076" "68172076" "subst" "0" "03005" "KCNJ2_000045" "g.68172076A>T" "" "{PMID:Deo 2013:23440193}" "" "" "cytoplasmic, control of polyamine-mediated channel gating, rectification" "De novo" "" "" "0" "" "" "g.70175935A>T" "" "pathogenic" "" "0000437438" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000046" "g.68172079G>A" "" "{PMID:Bendahhou 2005:15831539}" "" "" "cytoplasmic, pore-facing residue" "Germline" "" "" "0" "" "" "g.70175938G>A" "" "pathogenic" "" "0000437439" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000046" "g.68172079G>A" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "cytoplasmic, pore-facing residue" "Germline" "" "" "0" "" "" "g.70175938G>A" "" "pathogenic" "" "0000437440" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000046" "g.68172079G>A" "1/>140 periodic paralysis" "{PMID:Davies 2005:16217063}" "" "" "cytoplasmic, pore-facing residue" "Germline" "" "" "0" "" "" "g.70175938G>A" "" "pathogenic" "" "0000437441" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000047" "g.68172079G>T" "2/16 ATS families" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, pore-facing residue" "Germline" "" "" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000437442" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000047" "g.68172079G>T" "2/16 ATS families" "{PMID:Plaster 2001:11371347}" "" "" "cytoplasmic, pore-facing residue" "Unknown" "" "" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000437443" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000047" "g.68172079G>T" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, pore-facing residue" "Germline" "" "" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000437444" "1" "95" "17" "68172079" "68172079" "subst" "0" "03005" "KCNJ2_000047" "g.68172079G>T" "" "{PMIDKamiya 2012}" "" "" "cytoplasmic, pore-facing residue" "Unknown" "" "" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000437445" "1" "95" "17" "68172082" "68172082" "subst" "0" "03005" "KCNJ2_000048" "g.68172082T>A" "" "{PMID:Hattori 2012:22155372}" "" "" "cytoplasmic pore, G loop, cytoplasmic, C-terminus" "Unknown" "" "" "0" "" "" "g.70175941T>A" "" "pathogenic" "" "0000437446" "1" "95" "17" "68172084" "68172084" "subst" "0" "03005" "KCNJ2_000049" "g.68172084G>A" "" "{PMID:Ma 2007:17166852} {PMID:Tristani-Firouz 2002:12163457}" "" "" "G-loop in cytoplasmic, influence PIP2 gating, trafficking defect?" "Unknown" "" "" "0" "" "" "g.70175943G>A" "" "pathogenic" "" "0000437447" "1" "55" "17" "0" "0" "" "0" "03005" "KCNJ2_000050" "g.?" "" "{PMID:Kuramoto 2012:22739561}" "" "" "G-loop in cytoplasmic, influence PIP2 gating, trafficking defect?" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000437448" "1" "95" "17" "68172087" "68172087" "subst" "0" "03005" "KCNJ2_000051" "g.68172087G>A" "1/16 ATS families" "{PMID:Plaster 2001:11371347} {PMID:Lange 2003:12909315}" "" "" "G-loop in cytoplasmic" "Unknown" "" "" "0" "" "" "g.70175946G>A" "" "pathogenic" "" "0000437449" "1" "95" "17" "68172093" "68172093" "subst" "0" "03005" "KCNJ2_000052" "g.68172093A>G" "1/541 patients*" "{PMID:Eckhardt 2007:17341397}" "" "" "G-loop in cytoplasmic, slight dominant negative / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)" "Unknown" "" "" "0" "" "" "g.70175952A>G" "" "pathogenic" "" "0000437450" "1" "95" "17" "68172093" "68172093" "subst" "0" "03005" "KCNJ2_000053" "g.68172093A>C" "" "{PMID:Bendahhou 2007:17324964}" "" "" "G-loop in cytoplasmic" "Germline" "" "" "0" "" "" "g.70175952A>C" "" "pathogenic" "" "0000437451" "1" "95" "17" "68172094" "68172094" "subst" "0" "03005" "KCNJ2_000054" "g.68172094C>G" "" "{PMID:Kuramoto 2012:22739561}" "" "" "G-loop in cytoplasmic, L382L (1146C>T)" "De novo" "" "" "0" "" "" "g.70175953C>G" "" "pathogenic" "" "0000437452" "1" "55" "17" "68172101" "68172101" "subst" "0" "03005" "KCNJ2_000055" "g.68172101G>A" "" "{PMID:Choi 2007:17211524}" "" "" "cytoplasmic, G loop" "Germline" "" "" "0" "" "" "g.70175960G>A" "" "VUS" "" "0000437453" "1" "95" "17" "68172106" "68172106" "subst" "0" "03005" "KCNJ2_000056" "g.68172106C>T" "" "{PMID:Bendahhou 2005:15831539}" "" "" "G-loop in cytoplasmic, pore-facing residue, cytoplasmic, PIP2 binding, PIP2 binding, interaction with Arg218" "Unknown" "" "" "0" "" "" "g.70175965C>T" "" "pathogenic" "" "0000437454" "1" "95" "17" "68172106" "68172106" "subst" "0" "03005" "KCNJ2_000056" "g.68172106C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "G-loop in cytoplasmic, pore-facing residue, cytoplasmic, PIP2 binding, PIP2 binding, interaction with Arg218" "Unknown" "" "" "0" "" "" "g.70175965C>T" "" "pathogenic" "" "0000437455" "1" "55" "17" "68172114" "68172114" "subst" "4.0627E-6" "03005" "KCNJ2_000057" "g.68172114C>T" "1/17 ATS probands" "{PMID:Donaldson 2003:12796536}" "" "" "G-loop in cytoplasmic, PIP2 binding" "Germline" "" "" "0" "" "" "g.70175973C>T" "" "VUS" "" "0000437456" "1" "75" "17" "68172115" "68172115" "subst" "0" "03005" "KCNJ2_000058" "g.68172115G>A" "" "{PMID:Sacconi 2009:19570891}" "" "" "G-loop in cytoplasmic, PIP2 binding" "Germline" "" "" "0" "" "" "g.70175974G>A" "" "likely pathogenic" "" "0000437457" "1" "95" "17" "0" "0" "" "0" "03005" "KCNJ2_000059" "g.?" "1/16 ATS families" "{PMID:Yoon 2006:16419128} {PMID:Plaster 2001:11371347}" "" "" "G-loop in cytoplasmic, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking), golgi export motif" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000437458" "1" "35" "17" "68172231" "68172231" "subst" "0" "03005" "KCNJ2_000060" "g.68172231C>T" "" "{PMID:Haruna 2007:17221872}" "" "" "cytoplasmic, carrier of c.1927G>A(p.G643S)(KCNQ1)" "Unknown" "" "" "0" "" "" "g.70176090C>T" "" "likely benign" "" "0000437459" "1" "95" "17" "68172286" "68172286" "subst" "0" "03005" "KCNJ2_000061" "g.68172286C>A" "" "{PMID:Doi 2011:21493816}" "" "" "the ER export motif," "De novo" "" "" "0" "" "" "g.70176145C>A" "" "pathogenic" "" "0000437460" "1" "35" "17" "68172326" "68172326" "subst" "0.13638" "03005" "KCNJ2_000062" "g.68172326C>T" "" "{PMID:Plaster 2001:11371347}" "" "" "M2" "Unknown" "" "" "0" "" "" "g.70176185C>T" "" "likely benign" "" "0000437461" "1" "55" "17" "68172326" "68172326" "subst" "0.13638" "03005" "KCNJ2_000062" "g.68172326C>T" "35/188 LQT patients" "{PMID:Fodstad 2004:15276028}" "" "" "M2" "Unknown" "" "" "0" "" "" "g.70176185C>T" "" "VUS" "" "0000437462" "1" "55" "17" "68172379" "68172379" "subst" "6.50899E-5" "03005" "KCNJ2_000063" "g.68172379C>T" "" "{PMID:Obeyesekere 2011:21875779}" "" "" "cytoplasmic, C-terminus" "Unknown" "" "" "0" "" "" "g.70176238C>T" "" "VUS" "" "0000562873" "0" "30" "17" "68171023" "68171024" "ins" "0" "02327" "KCNJ2_000078" "g.68171023_68171024insGTAGTCAGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70174882_70174883insGTAGTCAGA" "" "likely benign" "" "0000562874" "0" "30" "17" "68171179" "68171179" "subst" "0.000284648" "02330" "KCNJ2_000079" "g.68171179C>T" "" "" "" "KCNJ2(NM_000891.3):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175038C>T" "" "likely benign" "" "0000562875" "0" "50" "17" "68171326" "68171326" "subst" "0" "02327" "KCNJ2_000080" "g.68171326A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175185A>G" "" "VUS" "" "0000562876" "0" "70" "17" "68171380" "68171380" "subst" "0" "02327" "KCNJ2_000005" "g.68171380G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175239G>A" "" "likely pathogenic" "" "0000562877" "0" "50" "17" "68171393" "68171393" "subst" "0" "02330" "KCNJ2_000081" "g.68171393C>A" "" "" "" "KCNJ2(NM_000891.3):c.213C>A (p.D71E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175252C>A" "" "VUS" "" "0000562879" "0" "90" "17" "68171404" "68171404" "subst" "0" "02330" "KCNJ2_000013" "g.68171404C>T" "" "" "" "KCNJ2(NM_000891.3):c.224C>T (p.T75M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175263C>T" "" "pathogenic" "" "0000562880" "0" "50" "17" "68171796" "68171796" "subst" "4.46813E-5" "02327" "KCNJ2_000082" "g.68171796G>A" "" "" "" "KCNJ2(NM_000891.3):c.616G>A (p.(Gly206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175655G>A" "" "VUS" "" "0000562881" "0" "90" "17" "68171832" "68171832" "subst" "0" "02327" "KCNJ2_000040" "g.68171832C>T" "" "" "" "KCNJ2(NM_000891.3):c.652C>T (p.R218W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175691C>T" "" "pathogenic" "" "0000562882" "0" "50" "17" "68171959" "68171959" "subst" "4.06144E-6" "02327" "KCNJ2_000083" "g.68171959G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175818G>A" "" "VUS" "" "0000562883" "0" "50" "17" "68172286" "68172286" "subst" "0" "02330" "KCNJ2_000084" "g.68172286C>T" "" "" "" "KCNJ2(NM_000891.3):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176145C>T" "" "VUS" "" "0000562884" "0" "10" "17" "68172326" "68172326" "subst" "0.13638" "02327" "KCNJ2_000062" "g.68172326C>T" "" "" "" "KCNJ2(NM_000891.2):c.1146C>T (p.L382=), KCNJ2(NM_000891.3):c.1146C>T (p.L382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176185C>T" "" "benign" "" "0000562885" "0" "30" "17" "68172385" "68172385" "subst" "4.47445E-5" "02326" "KCNJ2_000085" "g.68172385C>T" "" "" "" "KCNJ2(NM_000891.2):c.1205C>T (p.T402M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176244C>T" "" "likely benign" "" "0000562886" "0" "50" "17" "68172424" "68172424" "subst" "7.32035E-5" "02330" "KCNJ2_000086" "g.68172424C>T" "" "" "" "KCNJ2(NM_000891.3):c.1244C>T (p.P415L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176283C>T" "" "VUS" "" "0000562887" "0" "50" "17" "68172444" "68172444" "subst" "4.06749E-6" "02330" "KCNJ2_000087" "g.68172444C>T" "" "" "" "KCNJ2(NM_000891.3):c.1264C>T (p.R422W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176303C>T" "" "VUS" "" "0000562888" "0" "30" "17" "68172543" "68172543" "subst" "0" "02327" "KCNJ2_000088" "g.68172543C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176402C>T" "" "likely benign" "" "0000616776" "0" "50" "17" "68171656" "68171656" "subst" "8.12638E-6" "02327" "KCNJ2_000089" "g.68171656T>C" "" "" "" "KCNJ2(NM_000891.3):c.476T>C (p.(Phe159Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175515T>C" "" "VUS" "" "0000616777" "0" "30" "17" "68171777" "68171777" "subst" "3.65616E-5" "02327" "KCNJ2_000090" "g.68171777C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175636C>T" "" "likely benign" "" "0000616778" "0" "50" "17" "68171811" "68171811" "subst" "0" "02325" "KCNJ2_000091" "g.68171811A>C" "" "" "" "KCNJ2(NM_000891.3):c.631A>C (p.M211L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175670A>C" "" "VUS" "" "0000616779" "0" "50" "17" "68172219" "68172219" "subst" "0" "01943" "KCNJ2_000092" "g.68172219A>C" "" "" "" "KCNJ2(NM_000891.2):c.1039A>C (p.T347P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176078A>C" "" "VUS" "" "0000616780" "0" "30" "17" "68172260" "68172260" "subst" "5.29247E-5" "02327" "KCNJ2_000093" "g.68172260C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176119C>T" "" "likely benign" "" "0000616781" "0" "30" "17" "68172402" "68172402" "subst" "4.06653E-5" "02327" "KCNJ2_000094" "g.68172402C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70176261C>G" "" "likely benign" "" "0000623750" "0" "90" "17" "68171832" "68171832" "subst" "0" "02330" "KCNJ2_000040" "g.68171832C>T" "" "" "" "KCNJ2(NM_000891.3):c.652C>T (p.R218W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175691C>T" "" "pathogenic" "" "0000630833" "0" "90" "17" "68171410" "68171410" "subst" "0" "03547" "KCNJ2_000095" "g.68171410T>A" "" "Handklo-Jamal, submitted 2019" "" "" "de novo in patient" "De novo" "yes" "" "0" "" "" "g.70175269T>A" "" "likely pathogenic (dominant)" "" "0000649681" "1" "90" "17" "68171424" "68171424" "subst" "0" "03575" "KCNJ2_000016" "g.68171424C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs199473373}" "Germline" "" "rs199473373" "0" "" "" "g.70175283C>T" "" "pathogenic" "" "0000649682" "1" "50" "17" "68171457" "68171457" "subst" "0.000158372" "03575" "KCNJ2_000018" "g.68171457G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous; {DB:CLININrs147750704}" "Germline" "" "rs147750704" "0" "" "" "g.70175316G>A" "" "VUS" "" "0000649683" "1" "50" "17" "68172153" "68172153" "subst" "4.0625E-5" "03575" "KCNJ2_000071" "g.68172153C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs202067116}" "Germline" "" "rs202067116" "0" "" "" "g.70176012C>T" "" "VUS" "" "0000649684" "1" "50" "17" "68172225" "68172225" "subst" "4.47093E-5" "03575" "KCNJ2_000096" "g.68172225G>A" "5/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous; {DB:CLININrs375330016}" "Germline" "" "rs375330016" "0" "" "" "g.70176084G>A" "" "VUS" "" "0000649685" "1" "50" "17" "68172379" "68172379" "subst" "6.50899E-5" "03575" "KCNJ2_000063" "g.68172379C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144022753}" "Germline" "" "rs144022753" "0" "" "" "g.70176238C>T" "" "VUS" "" "0000653142" "1" "90" "17" "68172079" "68172079" "subst" "0" "03575" "KCNJ2_000047" "g.68172079G>T" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs104894579}" "Germline" "" "rs104894579" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000658237" "0" "10" "17" "68172104" "68172104" "subst" "1.21875E-5" "02330" "KCNJ2_000097" "g.68172104G>A" "" "" "" "KCNJ2(NM_000891.3):c.924G>A (p.T308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70175963G>A" "" "benign" "" "0000669415" "3" "50" "17" "68172225" "68172225" "subst" "4.47093E-5" "03575" "KCNJ2_000096" "g.68172225G>A" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs375330016}" "Germline" "" "rs375330016" "0" "" "" "g.70176084G>A" "" "VUS" "" "0000670156" "3" "90" "17" "68172079" "68172079" "subst" "0" "03575" "KCNJ2_000047" "g.68172079G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs104894579}" "Germline" "" "rs104894579" "0" "" "" "g.70175938G>T" "" "pathogenic" "" "0000680996" "0" "90" "17" "68171833" "68171833" "subst" "0" "02327" "KCNJ2_000041" "g.68171833G>A" "" "" "" "KCNJ2(NM_000891.3):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680997" "0" "30" "17" "68172038" "68172038" "subst" "2.43786E-5" "02326" "KCNJ2_000098" "g.68172038C>T" "" "" "" "KCNJ2(NM_000891.2):c.858C>T (p.D286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726639" "0" "10" "17" "68171393" "68171393" "subst" "0.000186796" "02330" "KCNJ2_000099" "g.68171393C>T" "" "" "" "KCNJ2(NM_000891.2):c.213C>T (p.D71=), KCNJ2(NM_000891.3):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726640" "0" "70" "17" "68171782" "68171782" "subst" "0" "02330" "KCNJ2_000100" "g.68171782T>A" "" "" "" "KCNJ2(NM_000891.3):c.602T>A (p.I201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726641" "0" "10" "17" "68172245" "68172245" "subst" "0.000187083" "02330" "KCNJ2_000101" "g.68172245T>G" "" "" "" "KCNJ2(NM_000891.2):c.1065T>G (p.L355=), KCNJ2(NM_000891.3):c.1065T>G (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000765421" "0" "90" "17" "68171425" "68171425" "subst" "0" "01164" "KCNJ2_000017" "g.68171425G>A" "" "PMID: 22806368, 16217063, 23644778, 22589293, 24861851, 23867365, 23516313, 16217063, 22589293" "" "" "ACMG: PS3, PS4, PM2_SUP, PP1" "Germline" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000865476" "0" "50" "17" "68171604" "68171604" "subst" "0" "02327" "KCNJ2_000102" "g.68171604A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865477" "0" "50" "17" "68172286" "68172286" "subst" "0" "02325" "KCNJ2_000084" "g.68172286C>T" "" "" "" "KCNJ2(NM_000891.3):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879996" "0" "90" "17" "68172115" "68172115" "subst" "0" "04390" "KCNJ2_000058" "g.68172115G>A" "" "{PMID:Fernandes 2022:36149965}" "" "R312H" "Variant is not related to the PIP2 binding site but with the transmission of the PIP2-binding to the aperture of G-loop in the\r\ncytoplasmic region." "In vitro (cloned)" "" "" "0" "" "" "g.70175974G>A" "" "pathogenic" "" "0000881215" "21" "90" "17" "68171832" "68171832" "subst" "0" "02300" "KCNJ2_000040" "g.68171832C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM5, PP2, PP3, PP4, PP5" "Germline" "" "rs104894578" "0" "" "" "g.70175691C>T" "" "pathogenic (dominant)" "ACMG" "0000894222" "0" "30" "17" "68171393" "68171393" "subst" "0.000186796" "02326" "KCNJ2_000099" "g.68171393C>T" "" "" "" "KCNJ2(NM_000891.2):c.213C>T (p.D71=), KCNJ2(NM_000891.3):c.213C>T (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894223" "0" "30" "17" "68171678" "68171678" "subst" "1.62596E-5" "02326" "KCNJ2_000103" "g.68171678C>T" "" "" "" "KCNJ2(NM_000891.2):c.498C>T (p.I166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894224" "0" "10" "17" "68172215" "68172215" "subst" "0.00123522" "02330" "KCNJ2_000104" "g.68172215C>T" "" "" "" "KCNJ2(NM_000891.3):c.1035C>T (p.H345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894225" "0" "30" "17" "68172245" "68172245" "subst" "0.000187083" "02326" "KCNJ2_000101" "g.68172245T>G" "" "" "" "KCNJ2(NM_000891.2):c.1065T>G (p.L355=), KCNJ2(NM_000891.3):c.1065T>G (p.L355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894226" "0" "10" "17" "68172380" "68172380" "subst" "0.000162702" "02330" "KCNJ2_000105" "g.68172380G>A" "" "" "" "KCNJ2(NM_000891.3):c.1200G>A (p.T400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914960" "0" "70" "17" "68171827" "68171827" "subst" "0" "02325" "KCNJ2_000106" "g.68171827A>G" "" "" "" "KCNJ2(NM_000891.3):c.647A>G (p.N216S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914961" "0" "50" "17" "68172154" "68172154" "subst" "0" "02327" "KCNJ2_000107" "g.68172154G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951024" "0" "50" "17" "68171277" "68171277" "subst" "0" "02326" "KCNJ2_000108" "g.68171277G>C" "" "" "" "KCNJ2(NM_000891.2):c.97G>C (p.G33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951025" "0" "90" "17" "68171833" "68171833" "subst" "0" "02330" "KCNJ2_000041" "g.68171833G>A" "" "" "" "KCNJ2(NM_000891.3):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951026" "0" "50" "17" "68172153" "68172153" "subst" "4.0625E-5" "02330" "KCNJ2_000071" "g.68172153C>T" "" "" "" "KCNJ2(NM_000891.3):c.973C>T (p.R325C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969204" "0" "90" "17" "68171379" "68171379" "subst" "0" "01804" "KCNJ2_000004" "g.68171379C>T" "" "" "" "KCNJ2(NM_000891.2):c.199C>T (p.(Arg67Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969206" "0" "30" "17" "68172133" "68172133" "subst" "2.84373E-5" "02327" "KCNJ2_000077" "g.68172133A>G" "" "" "" "KCNJ2(NM_000891.3):c.953A>G (p.N318S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969207" "0" "30" "17" "68172409" "68172409" "subst" "0.000341588" "02330" "KCNJ2_000109" "g.68172409A>G" "" "" "" "KCNJ2(NM_000891.2):c.1229A>G (p.(Asn410Ser)), KCNJ2(NM_000891.3):c.1229A>G (p.N410S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972258" "0" "70" "17" "68171610" "68171610" "subst" "0" "01164" "KCNJ2_000023" "g.68171610G>A" "" "PMID: 11371347, 12163457, 12909315, 14522976, 22002906" "LanerMGZ" "" "ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2" "Germline" "?" "" "0" "" "" "g.70175469G>A" "VCV000067573.6" "pathogenic (dominant)" "ACMG" "0000982749" "0" "50" "17" "68171656" "68171656" "subst" "8.12638E-6" "01804" "KCNJ2_000089" "g.68171656T>C" "" "" "" "KCNJ2(NM_000891.3):c.476T>C (p.(Phe159Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989703" "0" "50" "17" "68172133" "68172133" "subst" "2.84373E-5" "02515" "KCNJ2_000077" "g.68172133A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs367560052" "0" "" "" "g.70175992A>G" "" "VUS" "" "0000989704" "0" "70" "17" "68171424" "68171424" "subst" "0" "02515" "KCNJ2_000016" "g.68171424C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs199473373" "0" "" "" "g.70175283C>T" "67568" "likely pathogenic" "" "0001003620" "0" "50" "17" "68171202" "68171202" "subst" "8.12711E-6" "01804" "KCNJ2_000110" "g.68171202C>T" "" "" "" "KCNJ2(NM_000891.2):c.22C>T (p.(Arg8Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003621" "0" "50" "17" "68171388" "68171388" "subst" "4.87302E-5" "01804" "KCNJ2_000073" "g.68171388G>T" "" "" "" "KCNJ2(NM_000891.2):c.208G>T (p.(Ala70Ser)), KCNJ2(NM_000891.3):c.208G>T (p.A70S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003622" "0" "90" "17" "68171425" "68171425" "subst" "0" "02330" "KCNJ2_000017" "g.68171425G>A" "" "" "" "KCNJ2(NM_000891.3):c.245G>A (p.R82Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003623" "0" "30" "17" "68171457" "68171457" "subst" "0.000158372" "01804" "KCNJ2_000018" "g.68171457G>A" "" "" "" "KCNJ2(NM_000891.2):c.277G>A (p.(Val93Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003624" "0" "30" "17" "68172379" "68172379" "subst" "6.50899E-5" "01804" "KCNJ2_000063" "g.68172379C>T" "" "" "" "KCNJ2(NM_000891.2):c.1199C>T (p.(Thr400Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003625" "0" "30" "17" "68172409" "68172409" "subst" "0.000341588" "01804" "KCNJ2_000109" "g.68172409A>G" "" "" "" "KCNJ2(NM_000891.2):c.1229A>G (p.(Asn410Ser)), KCNJ2(NM_000891.3):c.1229A>G (p.N410S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015611" "0" "50" "17" "68172300" "68172300" "subst" "0" "02325" "KCNJ2_000111" "g.68172300T>C" "" "" "" "KCNJ2(NM_000891.3):c.1120T>C (p.F374L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027051" "0" "50" "17" "68171308" "68171308" "subst" "2.43661E-5" "02330" "KCNJ2_000112" "g.68171308G>A" "" "" "" "KCNJ2(NM_000891.3):c.128G>A (p.C43Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042141" "0" "90" "17" "68172115" "68172115" "subst" "0" "02325" "KCNJ2_000058" "g.68172115G>A" "" "" "" "KCNJ2(NM_000891.3):c.935G>A (p.R312H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056159" "0" "50" "17" "68171482" "68171482" "subst" "0" "01804" "KCNJ2_000113" "g.68171482G>C" "" "" "" "KCNJ2(NM_000891.3):c.302G>C (p.(Cys101Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056160" "0" "50" "17" "68171569" "68171569" "subst" "4.06081E-6" "01804" "KCNJ2_000114" "g.68171569C>T" "" "" "" "KCNJ2(NM_000891.3):c.389C>T (p.(Thr130Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056161" "0" "50" "17" "68171796" "68171796" "subst" "4.46813E-5" "01804" "KCNJ2_000082" "g.68171796G>A" "" "" "" "KCNJ2(NM_000891.3):c.616G>A (p.(Gly206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056162" "0" "50" "17" "68172454" "68172454" "subst" "1.22012E-5" "01804" "KCNJ2_000115" "g.68172454C>T" "" "" "" "KCNJ2(NM_000891.3):c.1274C>T (p.(Ser425Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066871" "0" "50" "17" "68171719" "68171719" "subst" "0" "02327" "KCNJ2_000116" "g.68171719T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KCNJ2 ## Count = 196 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000052359" "00010371" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Ala178Thr)" "2" "0000218427" "00010371" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Cys)" "" "0000247485" "00010371" "50" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000278358" "00010371" "10" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Leu382=)" "" "0000278359" "00010371" "10" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(Phe58=)" "" "0000278360" "00010371" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Ala70Ser)" "" "0000278361" "00010371" "50" "248" "0" "248" "0" "c.248G>T" "r.(?)" "p.(Trp83Leu)" "" "0000278362" "00010371" "10" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Ser220=)" "" "0000285519" "00010371" "10" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Leu382=)" "" "0000290063" "00010371" "50" "921" "0" "921" "0" "c.921G>C" "r.(?)" "p.(Met307Ile)" "" "0000437350" "00010371" "55" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000437351" "00010371" "95" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Cys54Phe)" "2" "0000437352" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437353" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437354" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437355" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437356" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437357" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437358" "00010371" "95" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "2" "0000437359" "00010371" "75" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "2" "0000437360" "00010371" "95" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "2" "0000437361" "00010371" "75" "202" "0" "202" "0" "c.202T>G" "r.(?)" "p.(Tyr68Asp)" "2" "0000437362" "00010371" "55" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Asp71Asn)" "2" "0000437363" "00010371" "95" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Asp71Tyr)" "2" "0000437364" "00010371" "95" "212" "0" "212" "0" "c.212A>T" "r.(?)" "p.(Asp71Val)" "2" "0000437365" "00010371" "95" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Thr74Ala)" "2" "0000437366" "00010371" "95" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Thr75Ala)" "2" "0000437367" "00010371" "95" "224" "0" "224" "0" "c.224C>G" "r.(?)" "p.(Thr75Arg)" "2" "0000437368" "00010371" "95" "224" "0" "224" "0" "c.224C>G" "r.(?)" "p.(Thr75Arg)" "2" "0000437369" "00010371" "95" "224" "0" "224" "0" "c.224C>G" "r.(?)" "p.(Thr75Arg)" "2" "0000437370" "00010371" "95" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thy75Met)" "2" "0000437371" "00010371" "95" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thy75Met)" "2" "0000437372" "00010371" "95" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thy75Met)" "2" "0000437373" "00010371" "55" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Asp78Tyr)" "2" "0000437374" "00010371" "95" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Asp78Gly)" "2" "0000437375" "00010371" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "2" "0000437376" "00010371" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "2" "0000437377" "00010371" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "2" "0000437378" "00010371" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "2" "0000437379" "00010371" "95" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "2" "0000437380" "00010371" "95" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000437381" "00010371" "95" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "2" "0000437382" "00010371" "95" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Ile93Val)" "2" "0000437383" "00010371" "75" "281" "0" "281" "0" "c.281T>C" "r.(?)" "p.(Leu94Pro)" "2" "0000437384" "00010371" "95" "0" "0" "0" "0" "c.283-_294+del" "r.(?)" "p.(Ser95_Phe98del)" "2" "0000437385" "00010371" "95" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Cys101Arg)" "2" "0000437386" "00010371" "95" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Cys101Arg)" "2" "0000437387" "00010371" "75" "368" "0" "368" "0" "c.368T>G" "r.(?)" "p.(Val123Gly)" "2" "0000437388" "00010371" "95" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Ser136Phe)" "2" "0000437389" "00010371" "95" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "2" "0000437390" "00010371" "95" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "2" "0000437391" "00010371" "95" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "2" "0000437392" "00010371" "95" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Gly144Asp)" "2" "0000437393" "00010371" "95" "431" "0" "431" "0" "c.431G>C" "r.(?)" "p.(Gly144Ala)" "2" "0000437394" "00010371" "95" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "2" "0000437395" "00010371" "55" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Gly146Asp)" "2" "0000437396" "00010371" "55" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Gly146Asp)" "2" "0000437397" "00010371" "55" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Gly146Ala)" "2" "0000437398" "00010371" "75" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Cys154Tyr)" "2" "0000437399" "00010371" "75" "461" "0" "461" "0" "c.461G>T" "r.(?)" "p.(Cys154Phe)" "2" "0000437400" "00010371" "95" "488" "0" "493" "0" "c.488_493del" "r.(?)" "p.(Phe163_Gln164del)" "2" "0000437401" "00010371" "95" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Asp172Asn)" "2" "0000437402" "00010371" "95" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "2" "0000437403" "00010371" "55" "566" "0" "566" "0" "c.566G>T" "r.(?)" "p.(Arg189Ile)" "2" "0000437404" "00010371" "95" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Thr192Ala)" "2" "0000437405" "00010371" "95" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Thr192Ala)" "2" "0000437406" "00010371" "95" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Thr192Ala)" "2" "0000437407" "00010371" "95" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Thr192Ala)" "2" "0000437408" "00010371" "55" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Thr192Ile)" "2" "0000437409" "00010371" "95" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Asp)" "2" "0000437410" "00010371" "95" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Asp)" "2" "0000437411" "00010371" "95" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Gly215Asp)" "2" "0000437412" "00010371" "95" "646" "0" "646" "0" "c.646A>C" "r.(?)" "p.(Asn216His)" "2" "0000437413" "00010371" "95" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Leu217Pro)" "2" "0000437414" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437415" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437416" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437417" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437418" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437419" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437420" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437421" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437422" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437423" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437424" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437425" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437426" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437427" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437428" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437429" "00010371" "95" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "2" "0000437430" "00010371" "95" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "2" "0000437431" "00010371" "95" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "2" "0000437432" "00010371" "95" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "2" "0000437433" "00010371" "95" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "2" "0000437434" "00010371" "95" "679" "0" "679" "0" "c.679G>T" "r.(?)" "p.(Val227Phe)" "2" "0000437435" "00010371" "55" "684" "0" "685" "0" "c.684_685ins30" "r.(?)" "p.(Arg228_Ala229insLysSerHisLeuValGluAlaHisValArg)" "2" "0000437436" "00010371" "95" "779" "0" "779" "0" "c.779G>C" "r.(?)" "p.(Arg260Pro)" "2" "0000437437" "00010371" "95" "896" "0" "896" "0" "c.896A>T" "r.(?)" "p.(Glu299Val)" "2" "0000437438" "00010371" "95" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Asp)" "2" "0000437439" "00010371" "95" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Asp)" "2" "0000437440" "00010371" "95" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Asp)" "2" "0000437441" "00010371" "95" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "2" "0000437442" "00010371" "95" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "2" "0000437443" "00010371" "95" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "2" "0000437444" "00010371" "95" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "2" "0000437445" "00010371" "95" "902" "0" "902" "0" "c.902T>A" "r.(?)" "p.(Met301Lys)" "2" "0000437446" "00010371" "95" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Val302Met)" "2" "0000437447" "00010371" "55" "904" "0" "904" "0" "c.904G>A&c.238C>T" "r.(?)" "p.(Val302Met)&p.(Arg80Cys)" "2" "0000437448" "00010371" "95" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Glu303Lys)" "2" "0000437449" "00010371" "95" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Thr305Ala)" "2" "0000437450" "00010371" "95" "913" "0" "913" "0" "c.913A>C" "r.(?)" "p.(Thr305Pro)" "2" "0000437451" "00010371" "95" "914" "0" "914" "0" "c.914C>G" "r.(?)" "p.(Thr305Ser)" "2" "0000437452" "00010371" "55" "921" "0" "921" "0" "c.921G>A" "r.(?)" "p.(Met307Ile)" "2" "0000437453" "00010371" "95" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Thr309Ile)" "2" "0000437454" "00010371" "95" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Thr309Ile)" "2" "0000437455" "00010371" "55" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Cys)" "2" "0000437456" "00010371" "75" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312His)" "2" "0000437457" "00010371" "95" "0" "0" "0" "0" "c.940-_945+del" "r.(?)" "p.(Ser314_Tyr315del)" "2" "0000437458" "00010371" "35" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Pro351Ser)" "2" "0000437459" "00010371" "95" "1106" "0" "1106" "0" "c.1106C>A" "r.(?)" "p.(Ser369*)" "2" "0000437460" "00010371" "35" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "silent (L382)" "2" "0000437461" "00010371" "55" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "silent (L382)" "2" "0000437462" "00010371" "55" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Met)" "2" "0000562873" "00010371" "30" "-158" "0" "-157" "0" "c.-158_-157insGTAGTCAGA" "r.(?)" "p.(=)" "" "0000562874" "00010371" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "0000562875" "00010371" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Lys49Arg)" "" "0000562876" "00010371" "70" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Gln)" "" "0000562877" "00010371" "50" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Asp71Glu)" "" "0000562879" "00010371" "90" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Thr75Met)" "" "0000562880" "00010371" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Gly206Ser)" "" "0000562881" "00010371" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "" "0000562882" "00010371" "50" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Arg260His)" "" "0000562883" "00010371" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000562884" "00010371" "10" "1146" "0" "1146" "0" "c.1146C>T" "r.(?)" "p.(Leu382=)" "" "0000562885" "00010371" "30" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Thr402Met)" "" "0000562886" "00010371" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Pro415Leu)" "" "0000562887" "00010371" "50" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Trp)" "" "0000562888" "00010371" "30" "1363" "0" "1363" "0" "c.*79C>T" "r.(=)" "p.(=)" "" "0000616776" "00010371" "50" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Phe159Ser)" "" "0000616777" "00010371" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ala199=)" "" "0000616778" "00010371" "50" "631" "0" "631" "0" "c.631A>C" "r.(?)" "p.(Met211Leu)" "" "0000616779" "00010371" "50" "1039" "0" "1039" "0" "c.1039A>C" "r.(?)" "p.(Thr347Pro)" "" "0000616780" "00010371" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Asp360=)" "" "0000616781" "00010371" "30" "1222" "0" "1222" "0" "c.1222C>G" "r.(?)" "p.(Leu408Val)" "" "0000623750" "00010371" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "" "0000630833" "00010371" "90" "230" "0" "230" "0" "c.230T>A" "r.(?)" "p.(Val77Glu)" "" "0000649681" "00010371" "90" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000649682" "00010371" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Ile)" "" "0000649683" "00010371" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Cys)" "" "0000649684" "00010371" "50" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Glu349Lys)" "" "0000649685" "00010371" "50" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Met)" "" "0000653142" "00010371" "90" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "" "0000658237" "00010371" "10" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Thr308=)" "" "0000669415" "00010371" "50" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Glu349Lys)" "" "0000670156" "00010371" "90" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "" "0000680996" "00010371" "90" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "0000680997" "00010371" "30" "858" "0" "858" "0" "c.858C>T" "r.(?)" "p.(Asp286=)" "" "0000726639" "00010371" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000726640" "00010371" "70" "602" "0" "602" "0" "c.602T>A" "r.(?)" "p.(Ile201Asn)" "" "0000726641" "00010371" "10" "1065" "0" "1065" "0" "c.1065T>G" "r.(?)" "p.(Leu355=)" "" "0000765421" "00010371" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000865476" "00010371" "50" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Thr142Ala)" "" "0000865477" "00010371" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000879996" "00010371" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312His)" "2" "0000881215" "00010371" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Trp)" "" "0000894222" "00010371" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Asp71=)" "" "0000894223" "00010371" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Ile166=)" "" "0000894224" "00010371" "10" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(His345=)" "" "0000894225" "00010371" "30" "1065" "0" "1065" "0" "c.1065T>G" "r.(?)" "p.(Leu355=)" "" "0000894226" "00010371" "10" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Thr400=)" "" "0000914960" "00010371" "70" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asn216Ser)" "" "0000914961" "00010371" "50" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325His)" "" "0000951024" "00010371" "50" "97" "0" "97" "0" "c.97G>C" "r.(?)" "p.(Gly33Arg)" "" "0000951025" "00010371" "90" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "0000951026" "00010371" "50" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Cys)" "" "0000969204" "00010371" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Trp)" "" "0000969206" "00010371" "30" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000969207" "00010371" "30" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Asn410Ser)" "" "0000972258" "00010371" "70" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Gly144Ser)" "2" "0000982749" "00010371" "50" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Phe159Ser)" "" "0000989703" "00010371" "50" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Asn318Ser)" "" "0000989704" "00010371" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0001003620" "00010371" "50" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Cys)" "" "0001003621" "00010371" "50" "208" "0" "208" "0" "c.208G>T" "r.(?)" "p.(Ala70Ser)" "" "0001003622" "00010371" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0001003623" "00010371" "30" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Ile)" "" "0001003624" "00010371" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Met)" "" "0001003625" "00010371" "30" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Asn410Ser)" "" "0001015611" "00010371" "50" "1120" "0" "1120" "0" "c.1120T>C" "r.(?)" "p.(Phe374Leu)" "" "0001027051" "00010371" "50" "128" "0" "128" "0" "c.128G>A" "r.(?)" "p.(Cys43Tyr)" "" "0001042141" "00010371" "90" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312His)" "" "0001056159" "00010371" "50" "302" "0" "302" "0" "c.302G>C" "r.(?)" "p.(Cys101Ser)" "" "0001056160" "00010371" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Thr130Met)" "" "0001056161" "00010371" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Gly206Ser)" "" "0001056162" "00010371" "50" "1274" "0" "1274" "0" "c.1274C>T" "r.(?)" "p.(Ser425Leu)" "" "0001066871" "00010371" "50" "539" "0" "539" "0" "c.539T>C" "r.(?)" "p.(Met180Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 129 "{{screeningid}}" "{{variantid}}" "0000029019" "0000052359" "0000129275" "0000218427" "0000207643" "0000437350" "0000207644" "0000437351" "0000207645" "0000437352" "0000207646" "0000437353" "0000207647" "0000437354" "0000207648" "0000437355" "0000207649" "0000437356" "0000207650" "0000437357" "0000207651" "0000437358" "0000207652" "0000437359" "0000207653" "0000437360" "0000207654" "0000437361" "0000207655" "0000437362" "0000207656" "0000437363" "0000207657" "0000437364" "0000207658" "0000437365" "0000207659" "0000437366" "0000207660" "0000437367" "0000207661" "0000437368" "0000207662" "0000437369" "0000207663" "0000437370" "0000207664" "0000437371" "0000207665" "0000437372" "0000207666" "0000437373" "0000207667" "0000437374" "0000207668" "0000437375" "0000207669" "0000437376" "0000207670" "0000437377" "0000207671" "0000437378" "0000207672" "0000437379" "0000207673" "0000437380" "0000207674" "0000437381" "0000207675" "0000437382" "0000207676" "0000437383" "0000207677" "0000437384" "0000207678" "0000437385" "0000207679" "0000437386" "0000207680" "0000437387" "0000207681" "0000437388" "0000207682" "0000437389" "0000207683" "0000437390" "0000207684" "0000437391" "0000207685" "0000437392" "0000207686" "0000437393" "0000207687" "0000437394" "0000207688" "0000437395" "0000207689" "0000437396" "0000207690" "0000437397" "0000207691" "0000437398" "0000207692" "0000437399" "0000207693" "0000437400" "0000207694" "0000437401" "0000207695" "0000437402" "0000207696" "0000437403" "0000207697" "0000437404" "0000207698" "0000437405" "0000207699" "0000437406" "0000207700" "0000437407" "0000207701" "0000437408" "0000207702" "0000437409" "0000207703" "0000437410" "0000207704" "0000437411" "0000207705" "0000437412" "0000207706" "0000437413" "0000207707" "0000437414" "0000207708" "0000437415" "0000207709" "0000437416" "0000207710" "0000437417" "0000207711" "0000437418" "0000207712" "0000437419" "0000207713" "0000437420" "0000207714" "0000437421" "0000207715" "0000437422" "0000207716" "0000437423" "0000207717" "0000437424" "0000207718" "0000437425" "0000207719" "0000437426" "0000207720" "0000437427" "0000207721" "0000437428" "0000207722" "0000437429" "0000207723" "0000437430" "0000207724" "0000437431" "0000207725" "0000437432" "0000207726" "0000437433" "0000207727" "0000437434" "0000207728" "0000437435" "0000207729" "0000437436" "0000207730" "0000437437" "0000207731" "0000437438" "0000207732" "0000437439" "0000207733" "0000437440" "0000207734" "0000437441" "0000207735" "0000437442" "0000207736" "0000437443" "0000207737" "0000437444" "0000207738" "0000437445" "0000207739" "0000437446" "0000207740" "0000437447" "0000207741" "0000437448" "0000207742" "0000437449" "0000207743" "0000437450" "0000207744" "0000437451" "0000207745" "0000437452" "0000207746" "0000437453" "0000207747" "0000437454" "0000207748" "0000437455" "0000207749" "0000437456" "0000207750" "0000437457" "0000207751" "0000437458" "0000207752" "0000437459" "0000207753" "0000437460" "0000207754" "0000437461" "0000207755" "0000437462" "0000276704" "0000630833" "0000292992" "0000649681" "0000292993" "0000649682" "0000292994" "0000649683" "0000292995" "0000649684" "0000292996" "0000649685" "0000296453" "0000653142" "0000305727" "0000669415" "0000306468" "0000670156" "0000364556" "0000765421" "0000420856" "0000881215" "0000450284" "0000972258" "0000454802" "0000989703" "0000454803" "0000989704"