### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KCNA2) # 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}}" "KCNA2" "potassium voltage-gated channel, shaker-related subfamily, member 2" "1" "p13" "unknown" "NG_027997.2" "UD_132118426698" "" "https://www.LOVD.nl/KCNA2" "" "1" "6220" "3737" "176262" "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/KCNA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-21 09:28:52" "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}}" "00010326" "KCNA2" "transcript variant 1" "002" "NM_004974.3" "" "NP_004965.1" "" "" "" "-621" "1629" "1500" "111148975" "111145776" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04537" "DEE32;EIEE32" "encephalopathy, developmental and epileptic, type 32 (DEE32)" "AD" "616366" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2022-10-21 09:28:08" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KCNA2" "04537" "KCNA2" "06906" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00080990" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00305982" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected parents" "F" "" "Denmark" "" "0" "" "" "" "Pat13" "00317990" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR82" "00413961" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "202323" "00419668" "" "" "" "1" "" "04403" "" "" "F" "no" "Russia" "" "" "" "" "" "" "00419672" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00419673" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat2" "00419674" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "" "Pat3" "00419675" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00419676" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00419677" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00419678" "" "" "" "1" "" "00006" "{PMID:Syrbe 2015:25751627}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00419679" "" "" "" "1" "" "00006" "{PMID:Pena 2015:25477152}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Brazil" "" "0" "" "" "" "patient" "00427808" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "" "F" "" "China" "" "0" "" "" "" "Pat187" "00438357" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat75" "00438688" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0693" "00440417" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2646.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00080990" "04537" "00305982" "04270" "00317990" "00139" "00413961" "04537" "00419668" "04537" "00419672" "04270" "00419673" "04270" "00419674" "04270" "00419675" "04270" "00419676" "04270" "00419677" "04270" "00419678" "04270" "00419679" "04270" "00427808" "04270" "00438357" "04270" "00438688" "06906" "00440417" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04270, 04537, 06906 ## Count = 17 "{{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}}" "0000060559" "04537" "00080990" "01758" "Isolated (sporadic)" "" "Epileptic encephalopathy, early infantile, 32 (OMIM:616366)" "" "" "" "" "" "" "" "" "" "" "" "0000231828" "04270" "00305982" "00006" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000241774" "00139" "00317990" "00006" "Familial, autosomal recessive" "" "Mild to moderate ID, speech delay, walking delay, epilepsy in v:3 and v:6, v:6 has strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000305888" "04537" "00413961" "01164" "Unknown" "15y" "Seizure, Bilateral tonic-clonic seizure, Patchy alopecia, EEG abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000310949" "04537" "00419668" "04403" "Unknown" "" "Focal-onset seizure HP:0007359, Neurodevelopmental delay HP:0012758, Intellectual disability HP:0001249, \r\nInability to walk HP:0002540, \r\nHypotonia HP:0001252,\r\nAtaxia HP:0001251" "" "" "" "" "" "" "" "" "" "" "" "0000310953" "04270" "00419672" "00006" "Isolated (sporadic)" "08y" "17m-onset seizures, febrile seizures, hemiclonic seizures; myoclonic seizures, focal dyscognitive seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 7y6m-seizure-free; EEG onset focal sharp waves; EEG multifocal sharp waves and sharp slow waves, accentuated over left frontocentral region with significant increase during sleep; mild-moderate ataxia, constant myoclonus; mild-moderate intellectual disability, delayed speech development; MRI brain normal; IGH deficiency, subclinical hypothyroidism" "00y17m" "" "seizures" "" "" "" "" "" "" "epilepsy" "" "0000310954" "04270" "00419673" "00006" "Isolated (sporadic)" "07y" "11m-onset seizures, myoclonic seizures; myoclonic seizures, myoclonic-atonic seizures; 4y-seizure-free; EEG onset focal sharp waves, spikes; EEG multifocal sharp waves, polyspikes, 6y-EEG normal; mild-moderate intellectual disability; MRI brain normal" "00y11m" "" "seizures" "" "" "" "" "" "" "myoclonic-atonic epilepsy" "" "0000310955" "04270" "00419674" "00006" "Unknown" "" "intellectual disability with neonatal-onset focal epilepsy and cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000310956" "04270" "00419675" "00006" "Isolated (sporadic)" "05y" "10m-onset seizures, focal dyscognitive seizures, febrile seizures; focal dyscognitive seizures, febrile seizures, focal motor seizures, possible extension spasms; 4y-seizure-free; EEG onset normal; EEG focal sharp waves; EEG 2y-sharp waves, spike-waves, polyspike-waves over both centro-temporal regions, independently or bilaterally synchronous (left more than right), increase during sleep; mild ataxia, myoclonus at rest in hand/fingers; learning disability, delayed speech development; MRI brain normal" "00y10m" "" "seizures" "" "" "" "" "" "" "Dravet syndrome" "" "0000310957" "04270" "00419676" "00006" "Isolated (sporadic)" "19y" "8m-onset seizures, febrile status epilepticus; febrile seizures, focal motor seizures, secondary generalized tonic-clonic seizures; 15y-seizure-free; EEG onset sharp waves, bilateral centro-temporo-frontal spikes; 4y-EEG multifocal epileptiform discharges activated by sleep; 17y-EEG normal; moderate intellectual disability, delayed speech development; MRI brain normal; severe scoliosis" "00y08m" "" "seizures" "" "" "" "" "" "" "adult epileptic encephalopathy" "" "0000310958" "04270" "00419677" "00006" "Isolated (sporadic)" "36y" "6m-onset seizures, generalized tonic-clonic seizures; myoclonic seizures, atypical absences; bimonthly generalized tonic-clonic seizures on polytherapy; 4y-EEG frequent generalized spike wave discharges in diffusely slow background; moderate ataxia, occasional myoclonus at rest; severe intellectual disability, no speech, requires help with all aspects of daily activities; MRI brain normal; facial dysmorphism, broad forehead, bulbous nasal tip, deep set eyes, synophris, full lips" "00y06m" "" "seizures" "" "" "" "" "" "" "adult epileptic encephalopathy" "" "0000310959" "04270" "00419678" "00006" "Isolated (sporadic)" "26y" "5m-onset seizures, febrile status epilepticus; generalized tonic-clonic seizures, absences; generalized tonic-clonic seizures once a year on lamotrigine; 6y-EEG generalized spike waves and polyspike-waves; moderate-severe ataxia, hyperreflexia; moderate intellectual disability; MRI brain normal" "00y05m" "" "seizures" "" "" "" "" "" "" "ataxia, epilepsy" "" "0000310960" "04270" "00419679" "00006" "Isolated (sporadic)" "07y" "see paper; ..., encephalopathy, ataxia, myoclonic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000318782" "04270" "00427808" "00006" "Isolated (sporadic)" "10y" "intellectual disability; absence seizure, generalized tonic-clonic, frequency 20/d; EEG generalized spike wave, focal spike wave; MRI brain normal; remitted to antiepileptic drugs" "2y" "" "" "" "" "" "" "" "" "unclassified epileptic encephalopathy" "" "0000328261" "04270" "00438357" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0002500 abnormality of the cerebral white matter; HP:0002240 hepatomegaly" "2y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328591" "06906" "00438688" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330327" "00198" "00440417" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Early infantile epileptic encephalopathy-32 (MIM #616366)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081102" "00080990" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000307112" "00305982" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000319172" "00317990" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415241" "00413961" "1" "01164" "01164" "2022-07-26 09:35:39" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000420972" "00419668" "1" "04403" "04403" "2022-10-20 16:49:00" "" "" "SEQ-NG" "DNA" "" "" "0000420976" "00419672" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "485 targeted gene panel" "0000420977" "00419673" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420978" "00419674" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420979" "00419675" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420980" "00419676" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420981" "00419677" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420982" "00419678" "1" "00006" "00006" "2022-10-21 10:04:47" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000420983" "00419679" "1" "00006" "00006" "2022-10-21 10:34:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429131" "00427808" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000439839" "00438357" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440170" "00438688" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441902" "00440417" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000081102" "KCNA2" "0000307112" "KCNA2" "0000319172" "KCNA2" "0000415241" "KCNA2" "0000420972" "KCNA2" ## 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 = 48 "{{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}}" "0000130188" "0" "70" "1" "111146285" "111146285" "subst" "0" "01758" "KCNA2_000001" "g.111146285T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.110603663T>C" "" "likely pathogenic" "ACMG" "0000346445" "0" "70" "1" "111146476" "111146476" "subst" "0" "02327" "KCNA2_000002" "g.111146476T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110603854T>C" "" "likely pathogenic" "" "0000502439" "0" "10" "1" "111146013" "111146013" "subst" "0.0022745" "01943" "KCNA2_000003" "g.111146013A>C" "" "" "" "KCNA2(NM_004974.3):c.1392T>G (p.G464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603391A>C" "" "benign" "" "0000502440" "0" "70" "1" "111146524" "111146524" "subst" "0" "02327" "KCNA2_000004" "g.111146524C>T" "" "" "" "KCNA2(NM_004974.3):c.881G>A (p.(Arg294His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603902C>T" "" "likely pathogenic" "" "0000502441" "0" "50" "1" "111146540" "111146540" "subst" "0" "02327" "KCNA2_000005" "g.111146540A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603918A>G" "" "VUS" "" "0000502442" "0" "30" "1" "111147192" "111147192" "subst" "0.00019897" "01943" "KCNA2_000006" "g.111147192G>A" "" "" "" "KCNA2(NM_004974.3):c.213C>T (p.P71=), KCNA2(NM_004974.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110604570G>A" "" "likely benign" "" "0000604649" "0" "30" "1" "111146320" "111146320" "subst" "0" "02327" "KCNA2_000008" "g.111146320G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603698G>A" "" "likely benign" "" "0000604650" "0" "90" "1" "111146515" "111146515" "subst" "0" "01943" "KCNA2_000009" "g.111146515C>T" "" "" "" "KCNA2(NM_004974.3):c.890G>A (p.R297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603893C>T" "" "pathogenic" "" "0000620330" "0" "70" "1" "111146516" "111146516" "subst" "0" "02325" "KCNA2_000010" "g.111146516G>A" "" "" "" "KCNA2(NM_004974.4):c.889C>T (p.R297W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603894G>A" "" "likely pathogenic" "" "0000653582" "0" "30" "1" "111146298" "111146298" "subst" "1.21869E-5" "01943" "KCNA2_000011" "g.111146298G>A" "" "" "" "KCNA2(NM_004974.3):c.1107C>T (p.V369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110603676G>A" "" "likely benign" "" "0000653583" "0" "90" "1" "111147107" "111147107" "subst" "0" "02327" "KCNA2_000012" "g.111147107G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110604485G>A" "" "pathogenic" "" "0000673677" "0" "70" "1" "111146515" "111146515" "subst" "0" "00006" "KCNA2_000009" "g.111146515C>T" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PS1, PM2, PP2, PP3, PP5; father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.110603893C>T" "" "likely pathogenic" "ACMG" "0000701836" "3" "50" "1" "111147212" "111147212" "subst" "8.12156E-6" "00006" "KCNA2_000013" "g.111147212G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.110604590G>A" "" "VUS" "" "0000716677" "0" "50" "1" "111145942" "111145942" "subst" "0" "02325" "KCNA2_000014" "g.111145942T>C" "" "" "" "KCNA2(NM_004974.4):c.1463A>G (p.N488S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716678" "0" "50" "1" "111146149" "111146149" "subst" "0" "02329" "KCNA2_000007" "g.111146149C>T" "" "" "" "KCNA2(NM_004974.4):c.1256G>A (p.R419Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716679" "0" "30" "1" "111146598" "111146598" "subst" "0.000779841" "01943" "KCNA2_000015" "g.111146598G>A" "" "" "" "KCNA2(NM_004974.3):c.807C>T (p.T269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716680" "0" "30" "1" "111147192" "111147192" "subst" "0.00019897" "02326" "KCNA2_000006" "g.111147192G>A" "" "" "" "KCNA2(NM_004974.3):c.213C>T (p.P71=), KCNA2(NM_004974.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798656" "0" "30" "1" "111146262" "111146262" "subst" "0.000263987" "01943" "KCNA2_000016" "g.111146262A>G" "" "" "" "KCNA2(NM_004974.3):c.1143T>C (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798657" "0" "70" "1" "111146408" "111146408" "subst" "0" "02327" "KCNA2_000017" "g.111146408A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798658" "0" "30" "1" "111147033" "111147033" "subst" "0.000300708" "01943" "KCNA2_000018" "g.111147033C>T" "" "" "" "KCNA2(NM_004974.3):c.372G>A (p.E124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798659" "0" "50" "1" "111147352" "111147352" "subst" "4.06656E-6" "01943" "KCNA2_000019" "g.111147352T>C" "" "" "" "KCNA2(NM_004974.3):c.53A>G (p.H18R), KCNA2(NM_004974.4):c.53A>G (p.(His18Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848227" "0" "70" "1" "111146293" "111146298" "delins" "0" "02329" "KCNA2_000020" "g.111146293_111146298delinsTCATGTCATGTCATGCCT" "" "" "" "KCNA2(NM_004974.4):c.1107_1112delCGTCTCinsAGGCATGACATGACATGA (p.V370_M372delinsGMT*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856872" "0" "90" "1" "111146524" "111146524" "subst" "0" "01804" "KCNA2_000004" "g.111146524C>T" "" "" "" "KCNA2(NM_004974.3):c.881G>A (p.(Arg294His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873000" "0" "50" "1" "111146765" "111146765" "subst" "0" "01164" "KCNA2_000021" "g.111146765G>T" "" "" "" "" "ACMG: PM2_SUP, PP2, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000881385" "0" "70" "1" "111146192" "111146192" "subst" "0" "04403" "KCNA2_000022" "g.111146192G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110603570G>A" "" "likely pathogenic" "ACMG" "0000881395" "0" "90" "1" "111146191" "111146191" "subst" "0" "00006" "KCNA2_000023" "g.111146191G>A" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603569G>A" "" "pathogenic" "" "0000881396" "0" "90" "1" "111146617" "111146617" "subst" "0" "00006" "KCNA2_000025" "g.111146617A>G" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603995A>G" "" "pathogenic" "" "0000881397" "0" "90" "1" "111146965" "111146965" "subst" "8.12315E-6" "00006" "KCNA2_000026" "g.111146965C>T" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110604343C>T" "" "pathogenic" "" "0000881398" "0" "90" "1" "111146191" "111146191" "subst" "0" "00006" "KCNA2_000023" "g.111146191G>A" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603569G>A" "" "pathogenic" "" "0000881399" "0" "90" "1" "111146191" "111146191" "subst" "0" "00006" "KCNA2_000023" "g.111146191G>A" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603569G>A" "" "pathogenic" "" "0000881400" "0" "90" "1" "111146511" "111146511" "subst" "0" "00006" "KCNA2_000024" "g.111146511C>A" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603889C>A" "" "pathogenic" "" "0000881401" "0" "90" "1" "111146515" "111146515" "subst" "0" "00006" "KCNA2_000009" "g.111146515C>T" "" "{PMID:Syrbe 2015:25751627}" "" "" "" "De novo" "" "" "0" "" "" "g.110603893C>T" "" "pathogenic" "" "0000881402" "0" "70" "1" "111146515" "111146515" "subst" "0" "00006" "KCNA2_000009" "g.111146515C>T" "" "{PMID:Pena 2015:25477152}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000908553" "0" "90" "1" "111146203" "111146203" "subst" "0" "00006" "KCNA2_000027" "g.111146203G>A" "" "{PMID:Zhou 2018:29314583}" "" "T401I" "" "De novo" "" "" "0" "" "" "g.110603581G>A" "" "pathogenic" "ACMG" "0000927972" "0" "50" "1" "111146149" "111146149" "subst" "0" "02327" "KCNA2_000007" "g.111146149C>T" "" "" "" "KCNA2(NM_004974.4):c.1256G>A (p.R419Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935968" "0" "70" "1" "111146876" "111146876" "subst" "8.12209E-6" "00006" "KCNA2_000028" "g.111146876T>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.110604254T>C" "" "likely pathogenic (dominant)" "ACMG" "0000936328" "0" "70" "1" "111146516" "111146516" "subst" "0" "00006" "KCNA2_000010" "g.111146516G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_004974:c.C889T (R297W)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000939844" "0" "90" "1" "111146182" "111146182" "subst" "0" "00006" "KCNA2_000029" "g.111146182A>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.110603560A>G" "" "pathogenic (dominant)" "" "0000960373" "0" "50" "1" "111147158" "111147158" "subst" "0" "02327" "KCNA2_000030" "g.111147158G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960374" "0" "30" "1" "111147370" "111147370" "subst" "6.5263E-5" "02325" "KCNA2_000031" "g.111147370G>A" "" "" "" "KCNA2(NM_004974.4):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973168" "0" "50" "1" "111146818" "111146818" "subst" "0" "01804" "KCNA2_000032" "g.111146818T>C" "" "" "" "KCNA2(NM_004974.4):c.587A>G (p.(His196Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973169" "0" "50" "1" "111147352" "111147352" "subst" "4.06656E-6" "01804" "KCNA2_000019" "g.111147352T>C" "" "" "" "KCNA2(NM_004974.3):c.53A>G (p.H18R), KCNA2(NM_004974.4):c.53A>G (p.(His18Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990096" "0" "50" "1" "111144759" "111144759" "subst" "6.96117E-6" "01804" "KCNA2_000033" "g.111144759G>A" "" "" "" "KCNA2(NM_001204269.1):c.928C>T (p.(Arg310Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990097" "0" "30" "1" "111146774" "111146774" "subst" "8.12466E-6" "01804" "KCNA2_000034" "g.111146774C>T" "" "" "" "KCNA2(NM_004974.3):c.631G>A (p.(Gly211Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013190" "0" "90" "1" "111146191" "111146191" "subst" "0" "02327" "KCNA2_000023" "g.111146191G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031049" "0" "50" "1" "111144451" "111144452" "ins" "0" "01804" "KCNA2_000035" "g.111144451_111144452insGTAT" "" "" "" "KCNA2(NM_004974.4):c.*1454_*1455insTACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031050" "0" "90" "1" "111146828" "111146828" "subst" "0" "02326" "KCNA2_000036" "g.111146828C>A" "" "" "" "KCNA2(NM_004974.4):c.577G>T (p.E193*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031051" "0" "50" "1" "111147155" "111147155" "subst" "0" "02325" "KCNA2_000037" "g.111147155T>G" "" "" "" "KCNA2(NM_004974.4):c.250A>C (p.S84R)" "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 KCNA2 ## Count = 48 "{{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}}" "0000130188" "00010326" "70" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Thr374Ala)" "" "0000346445" "00010326" "70" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(His310Arg)" "" "0000502439" "00010326" "10" "1392" "0" "1392" "0" "c.1392T>G" "r.(?)" "p.(Gly464=)" "" "0000502440" "00010326" "70" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "0000502441" "00010326" "50" "865" "0" "865" "0" "c.865T>C" "r.(?)" "p.(Ser289Pro)" "" "0000502442" "00010326" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Pro71=)" "" "0000604649" "00010326" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Pro362Leu)" "" "0000604650" "00010326" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000620330" "00010326" "70" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Trp)" "" "0000653582" "00010326" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Val369=)" "" "0000653583" "00010326" "90" "298" "0" "298" "0" "c.298C>T" "r.(?)" "p.(Arg100Ter)" "" "0000673677" "00010326" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000701836" "00010326" "50" "193" "0" "193" "0" "c.193C>T" "r.(?)" "p.(Arg65*)" "" "0000716677" "00010326" "50" "1463" "0" "1463" "0" "c.1463A>G" "r.(?)" "p.(Asn488Ser)" "" "0000716678" "00010326" "50" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "" "0000716679" "00010326" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Thr269=)" "" "0000716680" "00010326" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Pro71=)" "" "0000798656" "00010326" "30" "1143" "0" "1143" "0" "c.1143T>C" "r.(?)" "p.(Val381=)" "" "0000798657" "00010326" "70" "997" "0" "997" "0" "c.997T>G" "r.(?)" "p.(Phe333Val)" "" "0000798658" "00010326" "30" "372" "0" "372" "0" "c.372G>A" "r.(?)" "p.(Glu124=)" "" "0000798659" "00010326" "50" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(His18Arg)" "" "0000848227" "00010326" "70" "1107" "0" "1112" "0" "c.1107_1112delinsAGGCATGACATGACATGA" "r.(?)" "p.(Val370delinsGlyMetThr*)" "" "0000856872" "00010326" "90" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "0000873000" "00010326" "50" "640" "0" "640" "0" "c.640C>A" "r.(?)" "p.(Gln214Lys)" "3" "0000881385" "00010326" "70" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Pro405Ser)" "3" "0000881395" "00010326" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "0000881396" "00010326" "90" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Ile263Thr)" "" "0000881397" "00010326" "90" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147Lys)" "" "0000881398" "00010326" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "0000881399" "00010326" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "0000881400" "00010326" "90" "894" "0" "894" "0" "c.894G>T" "r.(?)" "p.(Leu298Phe)" "" "0000881401" "00010326" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000881402" "00010326" "70" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000908553" "00010326" "90" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Thr401Ile)" "" "0000927972" "00010326" "50" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "" "0000935968" "00010326" "70" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Ile177Val)" "" "0000936328" "00010326" "70" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Trp)" "" "0000939844" "00010326" "90" "1223" "0" "1223" "0" "c.1223T>C" "r.(?)" "p.(Val408Ala)" "3" "0000960373" "00010326" "50" "247" "0" "247" "0" "c.247C>G" "r.(?)" "p.(Pro83Ala)" "" "0000960374" "00010326" "30" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" "" "0000973168" "00010326" "50" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(His196Arg)" "" "0000973169" "00010326" "50" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(His18Arg)" "" "0000990096" "00010326" "50" "2646" "0" "2646" "0" "c.*1146C>T" "r.(=)" "p.(=)" "" "0000990097" "00010326" "30" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Gly211Arg)" "" "0001013190" "00010326" "90" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Pro405Leu)" "" "0001031049" "00010326" "50" "2954" "0" "2955" "0" "c.*1454_*1455insTACA" "r.(=)" "p.(=)" "" "0001031050" "00010326" "90" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Glu193*)" "" "0001031051" "00010326" "50" "250" "0" "250" "0" "c.250A>C" "r.(?)" "p.(Ser84Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000081102" "0000130188" "0000307112" "0000673677" "0000319172" "0000701836" "0000415241" "0000873000" "0000420972" "0000881385" "0000420976" "0000881395" "0000420977" "0000881396" "0000420978" "0000881397" "0000420979" "0000881398" "0000420980" "0000881399" "0000420981" "0000881400" "0000420982" "0000881401" "0000420983" "0000881402" "0000429131" "0000908553" "0000439839" "0000935968" "0000440170" "0000936328" "0000441902" "0000939844"