### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNE2) # 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}}" "KCNE2" "potassium voltage-gated channel, Isk-related family, member 2" "21" "q22.1" "unknown" "LRG_291" "UD_132084491804" "" "http://www.LOVD.nl/KCNE2" "" "1" "6242" "9992" "603796" "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/KCNE2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-11 18:49:04" "00000" "2025-05-05 21:14:00" ## 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}}" "00010349" "KCNE2" "potassium voltage-gated channel, Isk-related family, member 2" "001" "NM_172201.1" "" "NP_751951.1" "" "" "" "-140" "663" "372" "35736323" "35743440" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03034" "ATFB4" "fibrillation, atrial, familial, type 4 (ATFB-4)" "" "611493" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03393" "LQT6" "QT syndrome, long, type 6 (LQT-6)" "AD" "613693" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCNE2" "03034" "KCNE2" "03393" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00050544" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00064712" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "36y" "0" "" "" "" "" "00148425" "" "" "" "10" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661708-con" "00148426" "" "" "" "1" "" "00006" "{PMID:Ackerman 2003:14661677}" "305 African American controls" "" "" "United States" "" "0" "" "" "African Americans" "14661709-con" "00148442" "" "" "" "2" "" "00006" "{PMID:Ackerman 2003:14661677}" "187 Caucasian controls" "" "" "United States" "" "0" "" "" "European, white" "14661725-con" "00292981" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292982" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292983" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292984" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050544" "00198" "00064712" "05166" "00292981" "00198" "00292982" "00198" "00292983" "00198" "00292984" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03034, 03393, 05166 ## Count = 2 "{{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}}" "0000037156" "00198" "00050544" "00006" "Isolated (sporadic)" "" "bifid uvula, submucous cleft hard palate, pectus excavatum, autism with high cognitive abilities" "" "" "" "" "" "" "" "" "" "" "" "0000053240" "05166" "00064712" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050489" "00050544" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000064851" "00064712" "1" "01601" "01601" "2016-05-10 11:41:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000149281" "00148425" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149282" "00148426" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000149298" "00148442" "1" "00006" "00006" "2018-01-04 16:01:29" "" "" "SEQ" "DNA" "" "" "0000294149" "00292981" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294150" "00292982" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294151" "00292983" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294152" "00292984" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000149281" "KCNE2" "0000149282" "KCNE2" "0000149298" "KCNE2" ## 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 = 40 "{{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}}" "0000079469" "0" "90" "21" "35304067" "36866011" "del" "0" "00006" "CLIC6_000001" "g.35304067_36866011del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000096500" "0" "70" "21" "35742806" "35742806" "subst" "0.000243685" "01601" "KCNE2_000031" "g.35742806C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.34370507C>T" "" "likely pathogenic" "" "0000242602" "0" "11" "21" "35742802" "35742802" "subst" "0.00114126" "00006" "KCNE2_000033" "g.35742802C>G" "10/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.34370503C>G" "" "benign" "" "0000242603" "0" "11" "21" "35742974" "35742974" "subst" "0" "00006" "KCNE2_000034" "g.35742974C>T" "1/305 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.34370675C>T" "" "benign" "" "0000242619" "0" "11" "21" "35742799" "35742799" "subst" "0.00372028" "00006" "KCNE2_000032" "g.35742799A>G" "2/187 controls" "{PMID:Ackerman 2003:14661677}" "" "" "" "Germline" "" "" "0" "" "" "g.34370500A>G" "" "benign" "" "0000247676" "0" "10" "21" "35742799" "35742799" "subst" "0.00372028" "02330" "KCNE2_000032" "g.35742799A>G" "" "" "" "KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34370500A>G" "" "benign" "" "0000247693" "0" "50" "21" "35743135" "35743135" "subst" "0" "02330" "KCNE2_000037" "g.35743135A>C" "" "" "" "KCNE2(NM_172201.2):c.358A>C (p.K120Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34370836A>C" "" "VUS" "" "0000251736" "0" "30" "21" "35742799" "35742799" "subst" "0.00372028" "02326" "KCNE2_000032" "g.35742799A>G" "" "" "" "KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34370500A>G" "" "likely benign" "" "0000278293" "0" "30" "21" "35742966" "35742966" "subst" "0" "02330" "KCNE2_000035" "g.35742966C>T" "" "" "" "KCNE2(NM_172201.2):c.189C>T (p.I63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34370667C>T" "" "likely benign" "" "0000278294" "0" "10" "21" "35743131" "35743131" "subst" "0.000251906" "02330" "KCNE2_000036" "g.35743131G>A" "" "" "" "KCNE2(NM_172201.2):c.354G>A (p.G118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34370832G>A" "" "benign" "" "0000570583" "0" "10" "21" "35736384" "35736384" "subst" "0" "02327" "KCNE2_000038" "g.35736384G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34364085G>A" "" "benign" "" "0000570584" "0" "50" "21" "35736411" "35736411" "subst" "0" "02327" "KCNE2_000039" "g.35736411G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34364112G>A" "" "VUS" "" "0000570586" "0" "10" "21" "35742750" "35742750" "subst" "0.0361878" "02327" "KCNE2_000041" "g.35742750A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370451A>G" "" "benign" "" "0000570587" "0" "30" "21" "35742799" "35742799" "subst" "0.00372028" "02327" "KCNE2_000032" "g.35742799A>G" "" "" "" "KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370500A>G" "" "likely benign" "" "0000570588" "0" "30" "21" "35742802" "35742802" "subst" "0.00114126" "02326" "KCNE2_000033" "g.35742802C>G" "" "" "" "KCNE2(NM_172201.1):c.25C>G (p.Q9E), KCNE2(NM_172201.2):c.25C>G (p.Q9E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370503C>G" "" "likely benign" "" "0000570589" "0" "10" "21" "35742805" "35742805" "subst" "0" "02327" "KCNE2_000042" "g.35742805A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370506A>G" "" "benign" "" "0000570590" "0" "50" "21" "35742857" "35742857" "subst" "6.09132E-5" "02330" "KCNE2_000043" "g.35742857G>A" "" "" "" "KCNE2(NM_172201.2):c.80G>A (p.R27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370558G>A" "" "VUS" "" "0000570592" "0" "30" "21" "35742947" "35742947" "subst" "0.00105171" "02330" "KCNE2_000045" "g.35742947T>C" "" "" "" "KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370648T>C" "" "likely benign" "" "0000570593" "0" "30" "21" "35742947" "35742947" "subst" "0.00105171" "02326" "KCNE2_000045" "g.35742947T>C" "" "" "" "KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370648T>C" "" "likely benign" "" "0000618343" "0" "10" "21" "35736571" "35736571" "dup" "0" "02327" "KCNE2_000046" "g.35736571dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34364272dup" "" "benign" "" "0000618344" "0" "30" "21" "35742802" "35742802" "subst" "0.00114126" "02330" "KCNE2_000033" "g.35742802C>G" "" "" "" "KCNE2(NM_172201.1):c.25C>G (p.Q9E), KCNE2(NM_172201.2):c.25C>G (p.Q9E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370503C>G" "" "likely benign" "" "0000618345" "0" "30" "21" "35742857" "35742857" "subst" "6.09132E-5" "02327" "KCNE2_000043" "g.35742857G>A" "" "" "" "KCNE2(NM_172201.2):c.80G>A (p.R27H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370558G>A" "" "likely benign" "" "0000618346" "0" "50" "21" "35742940" "35742942" "dup" "0" "02327" "KCNE2_000050" "g.35742940_35742942dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370641_34370643dup" "" "VUS" "" "0000624207" "0" "10" "21" "35742801" "35742801" "subst" "0" "02330" "KCNE2_000047" "g.35742801A>G" "" "" "" "KCNE2(NM_172201.2):c.24A>G (p.T8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370502A>G" "" "benign" "" "0000624208" "0" "30" "21" "35742817" "35742817" "subst" "0.000190875" "02325" "KCNE2_000048" "g.35742817G>A" "" "" "" "KCNE2(NM_172201.2):c.40G>A (p.V14I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370518G>A" "" "likely benign" "" "0000624209" "0" "50" "21" "35742916" "35742916" "subst" "0" "02330" "KCNE2_000049" "g.35742916T>C" "" "" "" "KCNE2(NM_172201.2):c.139T>C (p.Y47H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370617T>C" "" "VUS" "" "0000624210" "0" "10" "21" "35743086" "35743086" "subst" "8.12288E-6" "02330" "KCNE2_000051" "g.35743086A>G" "" "" "" "KCNE2(NM_172201.2):c.309A>G (p.L103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34370787A>G" "" "benign" "" "0000650838" "1" "30" "21" "35742799" "35742799" "subst" "0.00372028" "03575" "KCNE2_000032" "g.35742799A>G" "15/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs2234916}" "Germline" "" "rs2234916" "0" "" "" "g.34370500A>G" "" "likely benign" "" "0000650839" "1" "50" "21" "35742947" "35742947" "subst" "0.00105171" "03575" "KCNE2_000045" "g.35742947T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs74315448}" "Germline" "" "rs74315448" "0" "" "" "g.34370648T>C" "" "VUS" "" "0000650840" "1" "90" "21" "35742955" "35742955" "subst" "0" "03575" "KCNE2_000052" "g.35742955T>C" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs16991654}" "Germline" "" "rs16991654" "0" "" "" "g.34370656T>C" "" "pathogenic" "" "0000650841" "1" "50" "21" "35743146" "35743147" "del" "7.32035E-5" "03575" "KCNE2_000053" "g.35743146_35743147del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs45610936}" "Germline" "" "rs45610936" "0" "" "" "g.34370847_34370848del" "" "VUS" "" "0000809383" "0" "30" "21" "35742817" "35742817" "subst" "0.000190875" "02330" "KCNE2_000048" "g.35742817G>A" "" "" "" "KCNE2(NM_172201.2):c.40G>A (p.V14I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809384" "0" "50" "21" "35742889" "35742889" "subst" "4.06058E-6" "02326" "KCNE2_000054" "g.35742889C>A" "" "" "" "KCNE2(NM_172201.1):c.112C>A (p.Q38K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855958" "0" "50" "21" "35742938" "35742938" "subst" "0.000259901" "02327" "KCNE2_000055" "g.35742938T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855959" "0" "30" "21" "35743131" "35743131" "subst" "0.000251906" "02327" "KCNE2_000036" "g.35743131G>A" "" "" "" "KCNE2(NM_172201.2):c.354G>A (p.G118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855960" "0" "30" "21" "35743146" "35743147" "del" "7.32035E-5" "02327" "KCNE2_000053" "g.35743146_35743147del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866624" "0" "30" "21" "35742947" "35742947" "subst" "0.00105171" "02327" "KCNE2_000045" "g.35742947T>C" "" "" "" "KCNE2(NM_172201.1):c.170T>C (p.I57T), KCNE2(NM_172201.2):c.170T>C (p.I57T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915451" "0" "30" "21" "35742799" "35742799" "subst" "0.00372028" "02325" "KCNE2_000032" "g.35742799A>G" "" "" "" "KCNE2(NM_172201.1):c.22A>G (p.T8A), KCNE2(NM_172201.2):c.22A>G (p.T8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005714" "0" "50" "21" "35742894" "35742894" "del" "0" "02325" "KCNE2_000057" "g.35742894del" "" "" "" "KCNE2(NM_172201.2):c.117delC (p.V41Lfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043566" "0" "30" "21" "35742806" "35742806" "subst" "0.000243685" "02327" "KCNE2_000031" "g.35742806C>T" "" "" "" "" "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 KCNE2 ## Count = 40 "{{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}}" "0000079469" "00010349" "00" "-432396" "0" "1123234" "0" "c.-432396_*1122862del" "r.0?" "p.0?" "" "0000096500" "00010349" "70" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Thr10Met)" "2" "0000242602" "00010349" "11" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Gln9Glu)" "2" "0000242603" "00010349" "11" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Ala66Val)" "2" "0000242619" "00010349" "11" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "2" "0000247676" "00010349" "10" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "" "0000247693" "00010349" "50" "358" "0" "358" "0" "c.358A>C" "r.(?)" "p.(Lys120Gln)" "" "0000251736" "00010349" "30" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "" "0000278293" "00010349" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Ile63=)" "" "0000278294" "00010349" "10" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Gly118=)" "" "0000570583" "00010349" "10" "-79" "0" "-79" "0" "c.-79G>A" "r.(?)" "p.(=)" "" "0000570584" "00010349" "50" "-52" "0" "-52" "0" "c.-52G>A" "r.(?)" "p.(=)" "" "0000570586" "00010349" "10" "-12" "-16" "-12" "-16" "c.-12-16A>G" "r.(=)" "p.(=)" "" "0000570587" "00010349" "30" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "" "0000570588" "00010349" "30" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Gln9Glu)" "" "0000570589" "00010349" "10" "28" "0" "28" "0" "c.28A>G" "r.(?)" "p.(Thr10Ala)" "" "0000570590" "00010349" "50" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000570592" "00010349" "30" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000570593" "00010349" "30" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000618343" "00010349" "10" "-13" "121" "-13" "121" "c.-13+121dup" "r.(=)" "p.(=)" "" "0000618344" "00010349" "30" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Gln9Glu)" "" "0000618345" "00010349" "30" "80" "0" "80" "0" "c.80G>A" "r.(?)" "p.(Arg27His)" "" "0000618346" "00010349" "50" "163" "0" "165" "0" "c.163_165dup" "r.(?)" "p.(Val55dup)" "" "0000624207" "00010349" "10" "24" "0" "24" "0" "c.24A>G" "r.(?)" "p.(Thr8=)" "" "0000624208" "00010349" "30" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Val14Ile)" "" "0000624209" "00010349" "50" "139" "0" "139" "0" "c.139T>C" "r.(?)" "p.(Tyr47His)" "" "0000624210" "00010349" "10" "309" "0" "309" "0" "c.309A>G" "r.(?)" "p.(Leu103=)" "" "0000650838" "00010349" "30" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "" "0000650839" "00010349" "50" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000650840" "00010349" "90" "178" "0" "178" "0" "c.178T>C" "r.(?)" "p.(Phe60Leu)" "" "0000650841" "00010349" "50" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(*124Ileext*14)" "" "0000809383" "00010349" "30" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Val14Ile)" "" "0000809384" "00010349" "50" "112" "0" "112" "0" "c.112C>A" "r.(?)" "p.(Gln38Lys)" "" "0000855958" "00010349" "50" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Met54Thr)" "" "0000855959" "00010349" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Gly118=)" "" "0000855960" "00010349" "30" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(*124Ileext*14)" "" "0000866624" "00010349" "30" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Ile57Thr)" "" "0000915451" "00010349" "30" "22" "0" "22" "0" "c.22A>G" "r.(?)" "p.(Thr8Ala)" "" "0001005714" "00010349" "50" "117" "0" "117" "0" "c.117del" "r.(?)" "p.(Val41Leufs*15)" "" "0001043566" "00010349" "30" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Thr10Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000050489" "0000079469" "0000064851" "0000096500" "0000149281" "0000242602" "0000149282" "0000242603" "0000149298" "0000242619" "0000294149" "0000650838" "0000294150" "0000650839" "0000294151" "0000650840" "0000294152" "0000650841"