### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNJ1) # 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}}" "KCNJ1" "potassium inwardly-rectifying channel, subfamily J, member 1" "11" "q24" "unknown" "NG_009379.1" "UD_132118878024" "" "https://www.LOVD.nl/KCNJ1" "" "1" "6255" "3758" "600359" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KCNJ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-13 09:26:05" "00006" "2024-12-03 22:13:03" ## 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}}" "00025607" "KCNJ1" "transcript variant 1" "005" "NM_000220.4" "" "NP_000211.1" "" "" "" "-117" "2287" "1176" "128712429" "128707909" "00006" "2021-04-13 09:26:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00965" "BARTS2" "Bartter syndrome, type 2 (BARTS2)" "AR" "241200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05696" "BARTS" "Bartter syndrome (BARTS)" "" "" "" "" "" "00006" "2020-02-17 16:46:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KCNJ1" "00139" "KCNJ1" "00965" "KCNJ1" "05696" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00290303" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290304" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290305" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304295" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361964" "" "" "" "2" "" "00006" "{PMID:Brochard 2009:19096086}" "family, 2 affected" "F" "" "Algeria" "" "0" "" "" "" "Pat1.1" "00361965" "" "" "00361964" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "relative of Pat1.1" "M" "" "Algeria" "" "0" "" "" "" "Pat1.2" "00361966" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat2" "00361967" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat3" "00361968" "" "" "" "2" "" "00006" "{PMID:Brochard 2009:19096086}" "family, 2 affected" "M" "" "Mali" "" "0" "" "" "" "Pat4.1" "00361969" "" "" "00361968" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "relative of Pat4.1" "M" "" "Mali" "" "0" "" "" "" "Pat4.2" "00361970" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "white" "Pat5" "00361971" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "white" "Pat6" "00361972" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat7" "00361973" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "white" "Pat8" "00361974" "" "" "" "2" "" "00006" "{PMID:Brochard 2009:19096086}" "family, 2 affected" "F" "" "France" "" "0" "" "" "white" "Pat9.1" "00361975" "" "" "00361974" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "relative of Pat9.1" "M" "" "France" "" "0" "" "" "white" "Pat9.2" "00361976" "" "" "" "2" "" "00006" "{PMID:Brochard 2009:19096086}" "family, 2 affected" "F" "" "France" "" "0" "" "" "white" "Pat10.1" "00361977" "" "" "00361976" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "relative of Pat10.1" "F" "" "France" "" "0" "" "" "white" "Pat10.2" "00361978" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "Turkey" "" "0" "" "" "" "Pat11" "00361979" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat12" "00361980" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "Morocco" "" "0" "" "" "" "Pat13" "00361981" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat14" "00361982" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat15" "00453419" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00290303" "00198" "00290304" "00198" "00290305" "00198" "00304295" "00198" "00361964" "05696" "00361965" "05696" "00361966" "05696" "00361967" "05696" "00361968" "05696" "00361969" "05696" "00361970" "05696" "00361971" "05696" "00361972" "05696" "00361973" "05696" "00361974" "05696" "00361975" "05696" "00361976" "05696" "00361977" "05696" "00361978" "05696" "00361979" "05696" "00361980" "05696" "00361981" "05696" "00361982" "05696" "00453419" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00965, 05696 ## Count = 20 "{{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}}" "0000257355" "05696" "00361964" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257356" "05696" "00361965" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257357" "05696" "00361966" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257358" "05696" "00361967" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257359" "05696" "00361968" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257360" "05696" "00361969" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257361" "05696" "00361970" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257362" "05696" "00361971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257363" "05696" "00361972" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257364" "05696" "00361973" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bartter syndrome" "" "0000257365" "05696" "00361974" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257366" "05696" "00361975" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257367" "05696" "00361976" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257368" "05696" "00361977" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257369" "05696" "00361978" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257370" "05696" "00361979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257371" "05696" "00361980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257372" "05696" "00361981" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000257373" "05696" "00361982" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS2" "Bartter syndrome" "" "0000342082" "00198" "00453419" "03544" "Isolated (sporadic)" "" "HP:0008242" "" "" "" "" "" "" "" "" "BARTS2" "pseudohypoaldosteronism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291471" "00290303" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291472" "00290304" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291473" "00290305" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305424" "00304295" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363192" "00361964" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363193" "00361965" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363194" "00361966" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363195" "00361967" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363196" "00361968" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363197" "00361969" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363198" "00361970" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363199" "00361971" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363200" "00361972" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363201" "00361973" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363202" "00361974" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363203" "00361975" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363204" "00361976" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363205" "00361977" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363206" "00361978" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363207" "00361979" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363208" "00361980" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363209" "00361981" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363210" "00361982" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000455030" "00453419" "1" "03544" "03544" "2024-08-25 10:09:48" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000363192" "KCNJ1" "0000363193" "KCNJ1" "0000363194" "KCNJ1" "0000363195" "KCNJ1" "0000363196" "KCNJ1" "0000363197" "KCNJ1" "0000363198" "KCNJ1" "0000363199" "KCNJ1" "0000363200" "KCNJ1" "0000363201" "KCNJ1" "0000363202" "KCNJ1" "0000363203" "KCNJ1" "0000363204" "KCNJ1" "0000363205" "KCNJ1" "0000363206" "KCNJ1" "0000363207" "KCNJ1" "0000363208" "KCNJ1" "0000363209" "KCNJ1" "0000363210" "KCNJ1" ## 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 = 57 "{{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}}" "0000253627" "0" "10" "11" "128709126" "128709126" "subst" "0.00734165" "01943" "KCNJ1_000003" "g.128709126A>G" "" "" "" "KCNJ1(NM_000220.6):c.1070T>C (p.M357T), KCNJ1(NM_153767.3):c.1013T>C (p.M338T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839231A>G" "" "benign" "" "0000285513" "0" "10" "11" "128709004" "128709004" "subst" "0.00554015" "02326" "KCNJ1_000001" "g.128709004C>T" "" "" "" "KCNJ1(NM_000220.6):c.*16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839109C>T" "" "benign" "" "0000322586" "0" "50" "11" "128709105" "128709105" "subst" "8.93808E-5" "01804" "KCNJ1_000002" "g.128709105T>C" "" "" "" "KCNJ1(NM_000220.4):c.1091A>G (p.(Asp364Gly)), KCNJ1(NM_000220.6):c.1091A>G (p.D364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839210T>C" "" "VUS" "" "0000322587" "0" "30" "11" "128709183" "128709183" "subst" "4.06369E-5" "01804" "KCNJ1_000004" "g.128709183C>T" "" "" "" "KCNJ1(NM_000220.4):c.1013G>A (p.(Arg338Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839288C>T" "" "likely benign" "" "0000322589" "0" "50" "11" "128709228" "128709228" "subst" "3.65937E-5" "01804" "KCNJ1_000006" "g.128709228T>C" "" "" "" "KCNJ1(NM_153764.1):c.911A>G (p.(Tyr304Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839333T>C" "" "VUS" "" "0000322590" "0" "50" "11" "128710059" "128710059" "subst" "4.0623E-5" "01804" "KCNJ1_000007" "g.128710059T>C" "" "" "" "KCNJ1(NM_000220.4):c.137A>G (p.(Asp46Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840164T>C" "" "VUS" "" "0000337112" "0" "10" "11" "128708947" "128708947" "subst" "0" "02327" "KCNJ1_000008" "g.128708947T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839052T>A" "" "benign" "" "0000337113" "0" "10" "11" "128737188" "128737188" "subst" "0" "02327" "KCNJ1_000037" "g.128737188A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128867293A>G" "" "benign" "" "0000339377" "0" "10" "11" "128709887" "128709887" "subst" "0.00626801" "02327" "KCNJ1_000010" "g.128709887C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128839992C>T" "" "benign" "" "0000339378" "0" "10" "11" "128710094" "128710094" "subst" "0.00431448" "02327" "KCNJ1_000012" "g.128710094C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840199C>T" "" "benign" "" "0000344409" "0" "90" "11" "128710050" "128710050" "subst" "4.87484E-5" "02327" "KCNJ1_000011" "g.128710050C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128840155C>T" "" "pathogenic" "" "0000542999" "0" "50" "11" "128709670" "128709670" "subst" "0" "01943" "KCNJ1_000013" "g.128709670C>T" "" "" "" "KCNJ1(NM_153767.3):c.469G>A (p.G157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128839775C>T" "" "VUS" "" "0000648160" "1" "50" "11" "128708423" "128708423" "subst" "0" "03575" "KCNJ1_000014" "g.128708423G>A" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous; {DB:CLININrs117189807}" "Germline" "" "rs117189807" "0" "" "" "g.128838528G>A" "" "VUS" "" "0000648161" "1" "10" "11" "128709126" "128709126" "subst" "0.00734165" "03575" "KCNJ1_000003" "g.128709126A>G" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs59172778}" "Germline" "" "rs59172778" "0" "" "" "g.128839231A>G" "" "benign" "" "0000648162" "1" "90" "11" "128709539" "128709539" "subst" "4.10041E-6" "03575" "KCNJ1_000015" "g.128709539G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894245}" "Germline" "" "rs104894245" "0" "" "" "g.128839644G>C" "" "pathogenic" "" "0000656738" "0" "30" "11" "128709545" "128709545" "subst" "0" "01943" "KCNJ1_000016" "g.128709545C>T" "" "" "" "KCNJ1(NM_153767.3):c.594G>A (p.R198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128839650C>T" "" "likely benign" "" "0000669112" "3" "50" "11" "128708423" "128708423" "subst" "0" "03575" "KCNJ1_000014" "g.128708423G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117189807}" "Germline" "" "rs117189807" "0" "" "" "g.128838528G>A" "" "VUS" "" "0000679106" "0" "30" "11" "128709126" "128709126" "subst" "0.00734165" "02326" "KCNJ1_000003" "g.128709126A>G" "" "" "" "KCNJ1(NM_000220.6):c.1070T>C (p.M357T), KCNJ1(NM_153767.3):c.1013T>C (p.M338T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763643" "3" "90" "11" "128709252" "128709252" "subst" "4.06607E-6" "00006" "KCNJ1_000021" "g.128709252A>C" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839357A>C" "" "pathogenic (recessive)" "" "0000763644" "3" "90" "11" "128709252" "128709252" "subst" "4.06607E-6" "00006" "KCNJ1_000021" "g.128709252A>C" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839357A>C" "" "pathogenic (recessive)" "" "0000763645" "1" "90" "11" "128709562" "128709562" "subst" "6.16913E-5" "00006" "KCNJ1_000026" "g.128709562G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839667G>A" "" "pathogenic (recessive)" "" "0000763646" "1" "90" "11" "128709306" "128709306" "subst" "0" "00006" "KCNJ1_000023" "g.128709306A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839411A>G" "" "pathogenic (recessive)" "" "0000763647" "3" "90" "11" "128709184" "128709184" "subst" "8.1277E-5" "00006" "KCNJ1_000018" "g.128709184G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839289G>A" "" "pathogenic (recessive)" "" "0000763648" "3" "90" "11" "128709184" "128709184" "subst" "8.1277E-5" "00006" "KCNJ1_000018" "g.128709184G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839289G>A" "" "pathogenic (recessive)" "" "0000763649" "1" "90" "11" "128709184" "128709184" "subst" "8.1277E-5" "00006" "KCNJ1_000018" "g.128709184G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839289G>A" "" "pathogenic (recessive)" "" "0000763650" "1" "90" "11" "128709197" "128709200" "del" "9.34777E-5" "00006" "KCNJ1_000019" "g.128709197_128709200del" "" "{PMID:Brochard 2009:19096086}" "" "996delAAAG" "" "Germline" "" "" "0" "" "" "g.128839302_128839305del" "" "pathogenic (recessive)" "" "0000763651" "1" "90" "11" "128709648" "128709648" "subst" "0" "00006" "KCNJ1_000029" "g.128709648G>C" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839753G>C" "" "pathogenic (recessive)" "" "0000763652" "0" "90" "11" "128709634" "128709634" "subst" "0.000237128" "00006" "KCNJ1_000027" "g.128709634G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839739G>A" "" "pathogenic (recessive)" "" "0000763653" "1" "90" "11" "128710074" "128710074" "del" "0" "00006" "KCNJ1_000036" "g.128710074del" "" "{PMID:Brochard 2009:19096086}" "" "123delG" "" "Germline" "" "" "0" "" "" "g.128840179del" "" "pathogenic (recessive)" "" "0000763654" "1" "90" "11" "128710074" "128710074" "del" "0" "00006" "KCNJ1_000036" "g.128710074del" "" "{PMID:Brochard 2009:19096086}" "" "123delG" "" "Germline" "" "" "0" "" "" "g.128840179del" "" "pathogenic (recessive)" "" "0000763655" "1" "90" "11" "128709513" "128709513" "subst" "8.16767E-6" "00006" "KCNJ1_000024" "g.128709513C>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839618C>T" "" "pathogenic (recessive)" "" "0000763656" "1" "90" "11" "128709513" "128709513" "subst" "8.16767E-6" "00006" "KCNJ1_000024" "g.128709513C>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839618C>T" "" "pathogenic (recessive)" "" "0000763657" "3" "90" "11" "128709831" "128709831" "subst" "0" "00006" "KCNJ1_000030" "g.128709831A>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839936A>T" "" "pathogenic (recessive)" "" "0000763658" "1" "90" "11" "128709976" "128709976" "subst" "0" "00006" "KCNJ1_000034" "g.128709976C>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128840081C>A" "" "pathogenic (recessive)" "" "0000763659" "3" "90" "11" "128709961" "128709961" "subst" "0" "00006" "KCNJ1_000033" "g.128709961A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128840066A>G" "" "pathogenic (recessive)" "" "0000763660" "1" "90" "11" "128709867" "128709867" "subst" "2.44208E-5" "00006" "KCNJ1_000031" "g.128709867G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839972G>A" "" "pathogenic (recessive)" "" "0000763661" "1" "90" "11" "128709925" "128709925" "del" "0" "00006" "KCNJ1_000032" "g.128709925del" "" "{PMID:Brochard 2009:19096086}" "" "271delG" "" "Germline" "" "" "0" "" "" "g.128840030del" "" "pathogenic (recessive)" "" "0000763667" "2" "90" "11" "128710038" "128710038" "subst" "0" "00006" "KCNJ1_000035" "g.128710038A>C" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128840143A>C" "" "pathogenic (recessive)" "" "0000763668" "2" "90" "11" "128709646" "128709646" "del" "0" "00006" "KCNJ1_000028" "g.128709646del" "" "{PMID:Brochard 2009:19096086}" "" "550delA" "" "Germline" "" "" "0" "" "" "g.128839751del" "" "pathogenic (recessive)" "" "0000763669" "2" "90" "11" "128709141" "128709141" "dup" "0" "00006" "KCNJ1_000017" "g.128709141dup" "" "{PMID:Brochard 2009:19096086}" "" "1058insC" "" "Germline" "" "" "0" "" "" "g.128839246dup" "" "pathogenic (recessive)" "" "0000763670" "2" "90" "11" "128709184" "128709184" "subst" "8.1277E-5" "00006" "KCNJ1_000018" "g.128709184G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839289G>A" "" "pathogenic (recessive)" "" "0000763671" "2" "90" "11" "128709306" "128709306" "subst" "0" "00006" "KCNJ1_000023" "g.128709306A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839411A>G" "" "pathogenic (recessive)" "" "0000763672" "2" "90" "11" "128709555" "128709555" "subst" "1.64353E-5" "00006" "KCNJ1_000025" "g.128709555G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839660G>A" "" "pathogenic (recessive)" "" "0000763673" "2" "90" "11" "128709555" "128709555" "subst" "1.64353E-5" "00006" "KCNJ1_000025" "g.128709555G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839660G>A" "" "pathogenic (recessive)" "" "0000763674" "2" "90" "11" "128709237" "128709237" "subst" "0" "00006" "KCNJ1_000020" "g.128709237A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839342A>G" "" "pathogenic (recessive)" "" "0000763675" "2" "90" "11" "128709237" "128709237" "subst" "0" "00006" "KCNJ1_000020" "g.128709237A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839342A>G" "" "pathogenic (recessive)" "" "0000763676" "2" "90" "11" "128709831" "128709831" "subst" "0" "00006" "KCNJ1_000030" "g.128709831A>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839936A>T" "" "pathogenic (recessive)" "" "0000763677" "2" "90" "11" "128709265" "128709265" "subst" "2.84636E-5" "00006" "KCNJ1_000022" "g.128709265G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839370G>A" "" "pathogenic (recessive)" "" "0000763678" "2" "90" "11" "128709184" "128709184" "subst" "8.1277E-5" "00006" "KCNJ1_000018" "g.128709184G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.128839289G>A" "" "pathogenic (recessive)" "" "0000805001" "0" "90" "11" "128709141" "128709141" "dup" "0" "02326" "KCNJ1_000017" "g.128709141dup" "" "" "" "KCNJ1(NM_000220.6):c.1058dupC (p.H354Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805002" "0" "90" "11" "128709831" "128709831" "subst" "0" "02326" "KCNJ1_000030" "g.128709831A>T" "" "" "" "KCNJ1(NM_000220.6):c.365T>A (p.V122E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889696" "0" "30" "11" "128709968" "128709968" "subst" "8.12658E-6" "02326" "KCNJ1_000038" "g.128709968C>T" "" "" "" "KCNJ1(NM_000220.6):c.228G>A (p.K76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990004" "0" "90" "11" "128709141" "128709141" "dup" "0" "03544" "KCNJ1_000017" "g.128709141dup" "" "" "" "" "" "Germline" "yes" "rs768286324" "0" "" "" "g.128839246dup" "{CV:586075}" "pathogenic" "ACMG" "0000990005" "0" "70" "11" "128709369" "128709369" "subst" "0" "03544" "KCNJ1_000039" "g.128709369C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.128839474C>T" "{CV:3378410}" "likely pathogenic" "ACMG" "0000998871" "0" "90" "11" "128709538" "128709538" "subst" "0.000365044" "01804" "KCNJ1_000040" "g.128709538G>A" "" "" "" "KCNJ1(NM_153766.2):c.601C>T (p.(Leu201Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998872" "0" "50" "11" "128709897" "128709899" "delins" "0" "02327" "KCNJ1_000041" "g.128709897_128709899delinsAAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014766" "0" "30" "11" "128709105" "128709105" "subst" "8.93808E-5" "02326" "KCNJ1_000002" "g.128709105T>C" "" "" "" "KCNJ1(NM_000220.4):c.1091A>G (p.(Asp364Gly)), KCNJ1(NM_000220.6):c.1091A>G (p.D364G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KCNJ1 ## Count = 57 "{{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}}" "0000253627" "00025607" "10" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Met357Thr)" "" "0000285513" "00025607" "10" "1192" "0" "1192" "0" "c.*16G>A" "r.(=)" "p.(=)" "" "0000322586" "00025607" "50" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "" "0000322587" "00025607" "30" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338Gln)" "" "0000322589" "00025607" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Tyr323Cys)" "" "0000322590" "00025607" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Asp46Gly)" "" "0000337112" "00025607" "10" "1249" "0" "1249" "0" "c.*73A>T" "r.(=)" "p.(=)" "" "0000337113" "00025607" "10" "-24876" "0" "-24876" "0" "c.-24876T>C" "r.(?)" "p.(=)" "" "0000339377" "00025607" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ala103=)" "" "0000339378" "00025607" "10" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Gly34=)" "" "0000344409" "00025607" "90" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Cys49Tyr)" "" "0000542999" "00025607" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Arg)" "" "0000648160" "00025607" "50" "1773" "0" "1773" "0" "c.*597C>T" "r.(=)" "p.(=)" "" "0000648161" "00025607" "10" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Met357Thr)" "" "0000648162" "00025607" "90" "657" "0" "657" "0" "c.657C>G" "r.(?)" "p.(Ser219Arg)" "" "0000656738" "00025607" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Arg217=)" "" "0000669112" "00025607" "50" "1773" "0" "1773" "0" "c.*597C>T" "r.(=)" "p.(=)" "" "0000679106" "00025607" "30" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Met357Thr)" "" "0000763643" "00025607" "90" "944" "0" "944" "0" "c.944T>G" "r.(?)" "p.(Val315Gly)" "" "0000763644" "00025607" "90" "944" "0" "944" "0" "c.944T>G" "r.(?)" "p.(Val315Gly)" "" "0000763645" "00025607" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Ter)" "" "0000763646" "00025607" "90" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Ser)" "" "0000763647" "00025607" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000763648" "00025607" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000763649" "00025607" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000763650" "00025607" "90" "996" "0" "999" "0" "c.996_999del" "r.(?)" "p.(Glu334GlyfsTer35)" "" "0000763651" "00025607" "90" "548" "0" "548" "0" "c.548C>G" "r.(?)" "p.(Ser183Cys)" "" "0000763652" "00025607" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000763653" "00025607" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Arg41SerfsTer2)" "" "0000763654" "00025607" "90" "123" "0" "123" "0" "c.123del" "r.(?)" "p.(Arg41SerfsTer2)" "" "0000763655" "00025607" "90" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" "" "0000763656" "00025607" "90" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Gly228Glu)" "" "0000763657" "00025607" "90" "365" "0" "365" "0" "c.365T>A" "r.(?)" "p.(Val122Glu)" "" "0000763658" "00025607" "90" "220" "0" "220" "0" "c.220G>T" "r.(?)" "p.(Asp74Tyr)" "" "0000763659" "00025607" "90" "235" "0" "235" "0" "c.235T>C" "r.(?)" "p.(Tyr79His)" "" "0000763660" "00025607" "90" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Pro110Leu)" "" "0000763661" "00025607" "90" "271" "0" "271" "0" "c.271del" "r.(?)" "p.(Ser91ValfsTer12)" "" "0000763667" "00025607" "90" "158" "0" "158" "0" "c.158T>G" "r.(?)" "p.(Phe53Cys)" "" "0000763668" "00025607" "90" "550" "0" "550" "0" "c.550del" "r.(?)" "p.(Arg184GlyfsTer16)" "" "0000763669" "00025607" "90" "1058" "0" "1058" "0" "c.1058dup" "r.(?)" "p.(His354SerfsTer8)" "" "0000763670" "00025607" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000763671" "00025607" "90" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Ser)" "" "0000763672" "00025607" "90" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000763673" "00025607" "90" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000763674" "00025607" "90" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Leu320Pro)" "" "0000763675" "00025607" "90" "959" "0" "959" "0" "c.959T>C" "r.(?)" "p.(Leu320Pro)" "" "0000763676" "00025607" "90" "365" "0" "365" "0" "c.365T>A" "r.(?)" "p.(Val122Glu)" "" "0000763677" "00025607" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000763678" "00025607" "90" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Arg338Ter)" "" "0000805001" "00025607" "90" "1058" "0" "1058" "0" "c.1058dup" "r.(?)" "p.(His354Serfs*8)" "" "0000805002" "00025607" "90" "365" "0" "365" "0" "c.365T>A" "r.(?)" "p.(Val122Glu)" "" "0000889696" "00025607" "30" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Lys76=)" "" "0000990004" "00025607" "90" "1058" "0" "1058" "0" "c.1058dup" "r.(?)" "p.(His354Serfs*8)" "2" "0000990005" "00025607" "70" "827" "0" "827" "0" "c.827G>A" "r.(?)" "p.(Ser276Asn)" "2" "0000998871" "00025607" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Leu220Phe)" "" "0000998872" "00025607" "50" "297" "0" "299" "0" "c.297_299delinsCTT" "r.(?)" "p.(Trp99_Tyr100delinsCysPhe)" "" "0001014766" "00025607" "30" "1091" "0" "1091" "0" "c.1091A>G" "r.(?)" "p.(Asp364Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 37 "{{screeningid}}" "{{variantid}}" "0000291471" "0000648160" "0000291472" "0000648161" "0000291473" "0000648162" "0000305424" "0000669112" "0000363192" "0000763643" "0000363193" "0000763644" "0000363194" "0000763645" "0000363194" "0000763667" "0000363195" "0000763646" "0000363195" "0000763668" "0000363196" "0000763647" "0000363197" "0000763648" "0000363198" "0000763649" "0000363198" "0000763669" "0000363199" "0000763650" "0000363199" "0000763670" "0000363200" "0000763651" "0000363200" "0000763671" "0000363201" "0000763652" "0000363202" "0000763653" "0000363202" "0000763672" "0000363203" "0000763654" "0000363203" "0000763673" "0000363204" "0000763655" "0000363204" "0000763674" "0000363205" "0000763656" "0000363205" "0000763675" "0000363206" "0000763657" "0000363207" "0000763658" "0000363207" "0000763676" "0000363208" "0000763659" "0000363209" "0000763660" "0000363209" "0000763677" "0000363210" "0000763661" "0000363210" "0000763678" "0000455030" "0000990004" "0000455030" "0000990005"