### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EFHC1) # 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}}" "EFHC1" "EF-hand domain (C-terminal) containing 1" "6" "p12.3" "unknown" "NG_016760.1" "UD_132119110544" "" "https://www.LOVD.nl/EFHC1" "" "1" "16406" "114327" "608815" "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/EFHC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-18 08:27:35" "00000" "2024-08-28 13:16:32" ## 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}}" "00006908" "EFHC1" "transcript variant A" "002" "NM_018100.3" "" "NP_060570.2" "" "" "" "-215" "5367" "1923" "52284994" "52360583" "" "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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01952" "EJM" "epilepsy, myoclonic, juvenile (EJM)" "AD" "254770" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02683" "EJA1" "epilepsy, juvenile absence, susceptibility to, type 1 (EJA-1)" "AD" "607631" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EFHC1" "01952" "EFHC1" "02683" ## Individuals ## Do not remove or alter this header ## ## Count = 61 "{{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}}" "00095424" "" "" "" "1" "" "01874" "" "" "F" "no" "India" "" "0" "" "" "South Indian" "" "00095425" "" "" "" "1" "" "01874" "" "" "M" "no" "India" "" "0" "" "" "South Indian" "" "00177014" "" "" "" "2" "" "02552" "{PMID:Abela 2016:26174906}" "3-generation family, affected twin brothers, unaffected heterozygous carrier mother" "M" "no" "Italy" "" "0" "" "" "" "72555" "00177029" "" "" "" "7" "" "00006" "{PMID:Suzuki 2004:15258581}" "3-generation family, 3 affected (F, 2M), 4 asymtomatic heterozygous carriers (F, 4M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam1" "00177030" "" "" "" "4" "" "00006" "{PMID:Suzuki 2004:15258581}" "3-generation family, 2 affected (2F), 2 asymtomatic heterozygous carriers (F, M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam2" "00177031" "" "" "" "4" "" "00006" "{PMID:Suzuki 2004:15258581}" "2-generation family, 3 affected (2F, M), 1 asymtomatic heterozygous carriers (M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam3" "00177032" "" "" "" "9" "" "00006" "{PMID:Suzuki 2004:15258581}" "3-generation family, 4 affected (3F, M), 5 asymtomatic heterozygous carriers (F, 4M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam4" "00177033" "" "" "" "4" "" "00006" "{PMID:Suzuki 2004:15258581}" "2-generation family, 2 affected (2M), 2 asymtomatic heterozygous carriers (F, M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam5" "00177034" "" "" "" "2" "" "00006" "{PMID:Suzuki 2004:15258581}" "2-generation family, 2 affected (F, M)" "F;M" "" "Mexico" "" "0" "" "" "" "15258581-Fam6" "00177035" "" "" "" "19" "" "00006" "{PMID:Suzuki 2004:15258581}" "4-generation family, 8 affected (4F, 4M), 11 asymtomatic heterozygous carriers" "F;M" "" "Belize" "" "0" "" "" "" "15258581-Fam7" "00177036" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370826-Pat?" "00177037" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370827-Pat?" "00177038" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370828-Pat?" "00177039" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370829-Pat?" "00177040" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370830-Pat?" "00177041" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370831-Pat?" "00177042" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370832-Pat?" "00177043" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370833-Pat?" "00177044" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370834-Pat?" "00177045" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370835-Pat?" "00177046" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370836-Pat?" "00177047" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370837-Pat?" "00177048" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370838-Pat?" "00177049" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370839-Pat?" "00177050" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370840-Pat?" "00177051" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370841-Pat?" "00177052" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370842-Pat?" "00177053" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370843-Pat?" "00177054" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370844-Pat?" "00177055" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370845-Pat?" "00177056" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370846-Pat?" "00177057" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370847-Pat?" "00177058" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370848-Pat?" "00177059" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370849-Pat?" "00177060" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370850-Pat?" "00177061" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "M" "" "India" "" "0" "" "" "" "28370851-Pat?" "00177062" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370852-Pat?" "00177063" "" "" "" "1" "" "01862" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "F" "" "India" "" "0" "" "" "" "28370853-Pat?" "00177067" "" "" "" "158" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370826-Pat?" "00177068" "" "" "" "70" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370827-Pat?" "00177069" "" "" "" "75" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370828-Pat?" "00177070" "" "" "" "9" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370829-Pat?" "00177071" "" "" "" "199" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370830-Pat?" "00177072" "" "" "" "4" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370831-Pat?" "00177073" "" "" "" "5" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370832-Pat?" "00177074" "" "" "" "1" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370833-Pat?" "00177075" "" "" "" "193" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370834-Pat?" "00177076" "" "" "" "9" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370835-Pat?" "00177077" "" "" "" "11" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370836-Pat?" "00177078" "" "" "" "1" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370837-Pat?" "00177079" "" "" "" "434" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370838-Pat?" "00177080" "" "" "" "4" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370839-Pat?" "00177081" "" "" "" "94" "" "00006" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "480 cases" "F;M" "" "India" "" "0" "" "" "" "28370840-Pat?" "00294155" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294156" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374722" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3051" "00374723" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5230" "00380696" "" "" "" "1" "" "01164" "" "" "M" "no" "" "" "0" "" "" "" "183068" "00436357" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat5" "00438302" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat20" "00438363" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat81" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 47 "{{individualid}}" "{{diseaseid}}" "00095424" "01952" "00095425" "01952" "00177014" "00344" "00177029" "01952" "00177030" "01952" "00177031" "01952" "00177032" "01952" "00177033" "01952" "00177034" "01952" "00177035" "01952" "00177036" "01952" "00177037" "01952" "00177038" "01952" "00177039" "01952" "00177040" "01952" "00177041" "01952" "00177042" "01952" "00177043" "01952" "00177044" "01952" "00177045" "01952" "00177046" "01952" "00177047" "01952" "00177048" "01952" "00177049" "01952" "00177050" "01952" "00177051" "01952" "00177052" "01952" "00177053" "01952" "00177054" "01952" "00177055" "01952" "00177056" "01952" "00177057" "01952" "00177058" "01952" "00177059" "01952" "00177060" "01952" "00177061" "01952" "00177062" "01952" "00177063" "01952" "00294155" "00198" "00294156" "00198" "00374722" "00198" "00374723" "00198" "00380696" "02683" "00436357" "00198" "00436357" "04281" "00438302" "04270" "00438363" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 01952, 02683, 04270, 04281 ## Count = 44 "{{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}}" "0000073836" "01952" "00095424" "01874" "Familial" "15y" "" "12y" "" "" "" "" "" "" "" "" "" "" "0000073837" "01952" "00095425" "01874" "Isolated (sporadic)" "21y" "" "18y" "" "" "" "" "" "" "" "" "" "" "0000141831" "00344" "00177014" "02552" "Familial, X-linked recessive" "" "HP:0001252\r\nHP:0002509\r\nHP:0001266\r\nHP:0000219\r\nHP:0002705\r\nHP:000319\r\nHP:0000286\r\nHP:0000494\r\nHP:0000508\r\nHP:0011359\r\nHP:0100798" "01y00m" "" "" "" "" "" "" "" "Snyder-Robinson syndrome" "" "" "0000141839" "01952" "00177029" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141840" "01952" "00177030" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141841" "01952" "00177031" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141842" "01952" "00177032" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141843" "01952" "00177033" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141844" "01952" "00177034" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141845" "01952" "00177035" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141846" "01952" "00177036" "00006" "Unknown" "" "myoclonic seizure, generalized tonic–clonic seizure, absence seizure; photoparoxysmal response" "20y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141847" "01952" "00177037" "00006" "Unknown" "49y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response" "19y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141848" "01952" "00177038" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141849" "01952" "00177039" "00006" "Unknown" "24y" "myoclonic seizure, generalized tonic–clonic seizure" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141850" "01952" "00177040" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure, absence seizure; no photoparoxysmal response" "16y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141851" "01952" "00177041" "00006" "Unknown" "41y" "myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response" "13y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141852" "01952" "00177042" "00006" "Unknown" "15y" "myoclonic seizure, generalized tonic–clonic seizure; EEG normal;" "12y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141853" "01952" "00177043" "00006" "Unknown" "22y" "myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141854" "01952" "00177044" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141855" "01952" "00177045" "00006" "Unknown" "22y" "myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141856" "01952" "00177046" "00006" "Unknown" "22y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "14y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141857" "01952" "00177047" "00006" "Unknown" "18y" "myoclonic seizure, generalized tonic–clonic seizure" "17y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141858" "01952" "00177048" "00006" "Unknown" "33y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "13y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141859" "01952" "00177049" "00006" "Unknown" "12y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response" "12y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141860" "01952" "00177050" "00006" "Unknown" "23y" "myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141861" "01952" "00177051" "00006" "Unknown" "23y" "myoclonic seizure,generalized tonic–clonic seizure, absence seizure,febrile seizure; no photoparoxysmal response" "15y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141862" "01952" "00177052" "00006" "Unknown" "13y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves;" "12y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141863" "01952" "00177053" "00006" "Unknown" "22y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response" "14y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141864" "01952" "00177054" "00006" "Unknown" "49y" "myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response" "8y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141865" "01952" "00177055" "00006" "Unknown" "27y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "13y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141866" "01952" "00177056" "00006" "Unknown" "21y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "18y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141867" "01952" "00177057" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; photoparoxysmal response" "13y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141868" "01952" "00177058" "00006" "Unknown" "28y" "myoclonic seizure, generalized tonic–clonic seizure; no photoparoxysmal response" "18y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141869" "01952" "00177059" "00006" "Unknown" "18y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "15y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141870" "01952" "00177060" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure" "" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141871" "01952" "00177061" "00006" "Unknown" "20y" "myoclonic seizure, generalized tonic–clonic seizure; EEG normal; no photoparoxysmal response" "14y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141872" "01952" "00177062" "00006" "Unknown" "28y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "11y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000141873" "01952" "00177063" "00006" "Unknown" "15y" "myoclonic seizure, generalized tonic–clonic seizure; EEG generalized spike waves; no photoparoxysmal response" "14y" "" "" "" "" "" "" "" "EJM" "juvenile myoclonic epilepsy" "" "0000269932" "00198" "00374722" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269933" "00198" "00374723" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, ataxia" "" "0000274548" "02683" "00380696" "01164" "Unknown" "16y" "Seizure, Bilateral tonic-clonic seizure, EEG abnormality, Bilateral tonic-clonic seizure on awakening" "" "" "" "" "" "" "" "" "" "" "" "0000326536" "04281" "00436357" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000328206" "04270" "00438302" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0001626 abnormality of the cardiovascular system" "8y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328267" "04270" "00438363" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001945 fever; HP:0002013 vomiting; HP:0002014 diarrhea; HP:0030895 abnormal gastrointestinal motility" "3y" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 61 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095824" "00095424" "1" "01874" "01874" "2017-01-17 19:45:22" "" "" "SEQ" "DNA" "Blood" "" "0000095825" "00095425" "1" "01874" "01874" "2017-01-17 20:01:21" "" "" "SEQ" "DNA" "Blood" "" "0000177906" "00177014" "1" "02552" "02552" "2018-08-16 11:53:07" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000177925" "00177029" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177926" "00177030" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177927" "00177031" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177928" "00177032" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177929" "00177033" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177930" "00177034" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177931" "00177035" "1" "00006" "00006" "2018-08-17 12:45:31" "" "" "SEQ" "DNA" "" "" "0000177932" "00177036" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177933" "00177037" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177934" "00177038" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177935" "00177039" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177936" "00177040" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177937" "00177041" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177938" "00177042" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177939" "00177043" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177940" "00177044" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177941" "00177045" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177942" "00177046" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177943" "00177047" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177944" "00177048" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177945" "00177049" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177946" "00177050" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177947" "00177051" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177948" "00177052" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177949" "00177053" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177950" "00177054" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177951" "00177055" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177952" "00177056" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177953" "00177057" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177954" "00177058" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177955" "00177059" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177956" "00177060" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177957" "00177061" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177958" "00177062" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177959" "00177063" "1" "01862" "00006" "2018-08-17 13:38:16" "" "" "SEQ" "DNA" "" "" "0000177963" "00177067" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177964" "00177068" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177965" "00177069" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177966" "00177070" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177967" "00177071" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177968" "00177072" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177969" "00177073" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177970" "00177074" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177971" "00177075" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177972" "00177076" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177973" "00177077" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177974" "00177078" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177975" "00177079" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177976" "00177080" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000177977" "00177081" "1" "00006" "00006" "2018-08-17 14:00:26" "" "" "SEQ" "DNA" "" "" "0000295323" "00294155" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295324" "00294156" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375916" "00374722" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375917" "00374723" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381909" "00380696" "1" "01164" "01164" "2021-08-19 13:28:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000437839" "00436357" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000439784" "00438302" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000439845" "00438363" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{geneid}}" "0000095824" "EFHC1" "0000095825" "EFHC1" "0000177925" "EFHC1" "0000177926" "EFHC1" "0000177927" "EFHC1" "0000177928" "EFHC1" "0000177929" "EFHC1" "0000177930" "EFHC1" "0000177931" "EFHC1" "0000177932" "EFHC1" "0000177933" "EFHC1" "0000177934" "EFHC1" "0000177935" "EFHC1" "0000177936" "EFHC1" "0000177937" "EFHC1" "0000177938" "EFHC1" "0000177939" "EFHC1" "0000177940" "EFHC1" "0000177941" "EFHC1" "0000177942" "EFHC1" "0000177943" "EFHC1" "0000177944" "EFHC1" "0000177945" "EFHC1" "0000177946" "EFHC1" "0000177947" "EFHC1" "0000177948" "EFHC1" "0000177949" "EFHC1" "0000177950" "EFHC1" "0000177951" "EFHC1" "0000177952" "EFHC1" "0000177953" "EFHC1" "0000177954" "EFHC1" "0000177955" "EFHC1" "0000177956" "EFHC1" "0000177957" "EFHC1" "0000177958" "EFHC1" "0000177959" "EFHC1" "0000177963" "EFHC1" "0000177964" "EFHC1" "0000177965" "EFHC1" "0000177966" "EFHC1" "0000177967" "EFHC1" "0000177968" "EFHC1" "0000177969" "EFHC1" "0000177970" "EFHC1" "0000177971" "EFHC1" "0000177972" "EFHC1" "0000177973" "EFHC1" "0000177974" "EFHC1" "0000177975" "EFHC1" "0000177976" "EFHC1" "0000177977" "EFHC1" "0000375916" "EFHC1" "0000375917" "EFHC1" "0000381909" "EFHC1" ## 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 = 95 "{{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}}" "0000154445" "0" "70" "6" "52329740" "52329740" "subst" "0" "01874" "EFHC1_000001" "g.52329740G>A" "" "" "" "965G>A" "" "Germline" "" "" "0" "" "" "g.52464942G>A" "" "likely pathogenic" "" "0000154446" "0" "70" "6" "52329908" "52329908" "subst" "0" "01874" "EFHC1_000002" "g.52329908A>G" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.52465110A>G" "" "likely pathogenic" "" "0000252143" "0" "30" "6" "52333974" "52333974" "subst" "0" "02326" "EFHC1_000016" "g.52333974A>T" "" "" "" "EFHC1(NM_018100.4):c.1138-157A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52469176A>T" "" "likely benign" "" "0000252144" "0" "30" "6" "52343750" "52343750" "subst" "0" "02326" "EFHC1_000018" "g.52343750A>C" "" "" "" "EFHC1(NM_018100.4):c.1279-85A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52478952A>C" "" "likely benign" "" "0000267771" "0" "30" "6" "52319050" "52319050" "subst" "0.0103052" "02325" "EFHC1_000014" "g.52319050G>A" "" "" "" "EFHC1(NM_018100.4):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454252G>A" "" "likely benign" "" "0000271083" "0" "30" "6" "52285085" "52285085" "subst" "3.97377E-5" "02326" "EFHC1_000004" "g.52285085T>C" "" "" "" "EFHC1(NM_018100.4):c.-124T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52420287T>C" "" "likely benign" "" "0000271085" "0" "30" "6" "52343941" "52343941" "subst" "0.000158484" "02326" "EFHC1_000019" "g.52343941T>C" "" "" "" "EFHC1(NM_018100.4):c.1385T>C (p.I462T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52479143T>C" "" "likely benign" "" "0000271086" "0" "30" "6" "52356867" "52356867" "del" "0" "02326" "EFHC1_000020" "g.52356867del" "" "" "" "EFHC1(NM_018100.4):c.1852-201delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492069del" "" "likely benign" "" "0000271087" "0" "30" "6" "52357010" "52357010" "subst" "0" "02326" "EFHC1_000021" "g.52357010T>C" "" "" "" "EFHC1(NM_018100.4):c.1852-58T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52492212T>C" "" "likely benign" "" "0000271088" "0" "10" "6" "52303291" "52303291" "subst" "0.00268404" "02326" "EFHC1_000008" "g.52303291C>G" "" "" "" "EFHC1(NM_018100.4):c.475C>G (p.R159G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52438493C>G" "" "benign" "" "0000271089" "0" "10" "6" "52303361" "52303361" "subst" "0.0603671" "02326" "EFHC1_000009" "g.52303361G>A" "" "" "" "EFHC1(NM_018100.4):c.545G>A (p.R182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52438563G>A" "" "benign" "" "0000271090" "0" "30" "6" "52288585" "52288585" "subst" "0.00671497" "02326" "EFHC1_000005" "g.52288585C>T" "" "" "" "EFHC1(NM_018100.4):c.64-159C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52423787C>T" "" "likely benign" "" "0000271091" "0" "10" "6" "52288690" "52288690" "del" "0" "02326" "EFHC1_000006" "g.52288690del" "" "" "" "EFHC1(NM_018100.4):c.64-54delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52423892del" "" "benign" "" "0000271092" "0" "30" "6" "52317597" "52317597" "subst" "0.00350113" "02326" "EFHC1_000010" "g.52317597T>C" "" "" "" "EFHC1(NM_018100.4):c.685T>C (p.F229L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452799T>C" "" "likely benign" "" "0000271093" "0" "30" "6" "52317741" "52317741" "subst" "0" "02326" "EFHC1_000011" "g.52317741C>T" "" "" "" "EFHC1(NM_018100.4):c.723+106C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452943C>T" "" "likely benign" "" "0000271094" "0" "30" "6" "52318758" "52318758" "del" "0" "02326" "EFHC1_000012" "g.52318758del" "" "" "" "EFHC1(NM_018100.4):c.724-135delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52453960del" "" "likely benign" "" "0000271095" "0" "30" "6" "52318812" "52318812" "subst" "0" "02326" "EFHC1_000013" "g.52318812G>A" "" "" "" "EFHC1(NM_018100.4):c.724-81G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454014G>A" "" "likely benign" "" "0000271096" "0" "30" "6" "52319050" "52319050" "subst" "0.0103052" "02326" "EFHC1_000014" "g.52319050G>A" "" "" "" "EFHC1(NM_018100.4):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454252G>A" "" "likely benign" "" "0000271097" "0" "30" "6" "52319056" "52319056" "subst" "0.000767712" "02326" "EFHC1_000015" "g.52319056G>A" "" "" "" "EFHC1(NM_018100.4):c.887G>A (p.R296H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454258G>A" "" "likely benign" "" "0000271098" "0" "30" "6" "52288777" "52288777" "subst" "0.000211181" "02326" "EFHC1_000007" "g.52288777T>C" "" "" "" "EFHC1(NM_018100.4):c.97T>C (p.Y33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52423979T>C" "" "likely benign" "" "0000400809" "11" "30" "6" "52317597" "52317597" "subst" "0" "00006" "EFHC1_000022" "g.52317597T>C^52317599T>R" "" "{PMID:Abela 2016:26174906}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000400810" "1" "50" "6" "52288909" "52288909" "subst" "0.00185996" "00006" "EFHC1_000023" "g.52288909C>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance)" "Germline" "yes" "" "0" "" "" "g.52424111C>A" "" "VUS" "" "0000400811" "1" "50" "6" "52317574" "52317574" "subst" "0.00188075" "00006" "EFHC1_000024" "g.52317574G>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance)" "Germline" "yes" "" "0" "" "" "g.52452776G>A" "" "VUS" "" "0000400812" "1" "50" "6" "52288909" "52288909" "subst" "0.00185996" "00006" "EFHC1_000023" "g.52288909C>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance)" "Germline" "yes" "" "0" "" "" "g.52424111C>A" "" "VUS" "" "0000400813" "1" "50" "6" "52317574" "52317574" "subst" "0.00188075" "00006" "EFHC1_000024" "g.52317574G>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "allele [229C>A;662G>A] classified as pathogenic (dominant, incomplete penetrance)" "Germline" "yes" "" "0" "" "" "g.52452776G>A" "" "VUS" "" "0000400814" "1" "90" "6" "52317597" "52317597" "subst" "0.00350113" "00006" "EFHC1_000010" "g.52317597T>C" "" "{PMID:Suzuki 2004:15258581}" "" "" "pathogenic (dominant) with incomplete pentrance" "Germline" "yes" "" "0" "" "" "g.52452799T>C" "" "pathogenic (!)" "" "0000400815" "1" "90" "6" "52317597" "52317597" "subst" "0.00350113" "00006" "EFHC1_000010" "g.52317597T>C" "" "{PMID:Suzuki 2004:15258581}" "" "" "pathogenic (dominant) with incomplete pentrance" "Germline" "yes" "" "0" "" "" "g.52452799T>C" "" "pathogenic (!)" "" "0000400816" "1" "90" "6" "52317540" "52317540" "subst" "4.87405E-5" "00006" "EFHC1_000025" "g.52317540G>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "pathogenic (dominant) with incomplete pentrance" "Germline" "yes" "" "0" "" "" "g.52452742G>A" "" "pathogenic (!)" "" "0000400817" "0" "90" "6" "52318926" "52318926" "subst" "2.03123E-5" "00006" "EFHC1_000026" "g.52318926G>T" "" "{PMID:Suzuki 2004:15258581}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52454128G>T" "" "pathogenic (dominant)" "" "0000400818" "1" "93" "6" "52303361" "52303361" "subst" "0.0603671" "00006" "EFHC1_000009" "g.52303361G>A" "" "{PMID:Suzuki 2004:15258581}" "" "" "re-classified based on ExAC data, pathogenic (dominant) with incomplete pentrance" "Germline" "yes" "" "0" "" "" "g.52438563G>A" "" "pathogenic (!)" "" "0000400819" "0" "90" "6" "52288946" "52288946" "subst" "8.93764E-5" "01862" "EFHC1_000028" "g.52288946A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "His89Arg" "" "Germline" "" "" "0" "" "" "g.52424148A>G" "" "pathogenic (dominant)" "" "0000400820" "0" "90" "6" "52317597" "52317597" "subst" "0.00350113" "01862" "EFHC1_000010" "g.52317597T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "g.52452799T>C" "" "pathogenic (dominant)" "" "0000400821" "0" "90" "6" "52317597" "52317597" "subst" "0.00350113" "01862" "EFHC1_000010" "g.52317597T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "g.52452799T>C" "" "pathogenic (dominant)" "" "0000400822" "0" "90" "6" "52317597" "52317597" "subst" "0.00350113" "01862" "EFHC1_000010" "g.52317597T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "g.52452799T>C" "" "pathogenic (dominant)" "" "0000400823" "0" "90" "6" "52317597" "52317597" "subst" "0.00350113" "01862" "EFHC1_000010" "g.52317597T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "g.52452799T>C" "" "pathogenic (dominant)" "" "0000400824" "0" "90" "6" "52317597" "52317597" "subst" "0.00350113" "01862" "EFHC1_000010" "g.52317597T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Phe229Leu" "" "Germline" "" "" "0" "" "" "g.52452799T>C" "" "pathogenic (dominant)" "" "0000400825" "0" "90" "6" "52329741" "52329741" "subst" "0" "01862" "EFHC1_000033" "g.52329741G>A" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Glu322Lys" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000400826" "0" "90" "6" "52329832" "52329832" "subst" "0" "01862" "EFHC1_000034" "g.52329832C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg353Trp" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000400827" "0" "90" "6" "52329832" "52329832" "subst" "0" "01862" "EFHC1_000034" "g.52329832C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg353Trp" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000400828" "0" "90" "6" "52329832" "52329832" "subst" "0" "01862" "EFHC1_000034" "g.52329832C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg353Trp" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000400829" "0" "90" "6" "52329832" "52329832" "subst" "0" "01862" "EFHC1_000034" "g.52329832C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg353Trp" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000400830" "0" "90" "6" "52329840" "52329840" "subst" "4.0623E-6" "01862" "EFHC1_000035" "g.52329840A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Tyr355Cys" "" "Germline" "" "" "0" "" "" "g.52465042A>G" "" "pathogenic (dominant)" "" "0000400831" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400832" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400833" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400834" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400835" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400836" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400837" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400838" "0" "90" "6" "52329890" "52329890" "subst" "0.00124435" "01862" "EFHC1_000036" "g.52329890C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg372Trp" "" "Germline" "" "" "0" "" "" "g.52465092C>T" "" "pathogenic (dominant)" "" "0000400839" "0" "90" "6" "52329908" "52329908" "subst" "0" "01862" "EFHC1_000002" "g.52329908A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Lys378Glu" "" "Germline" "" "" "0" "" "" "g.52465110A>G" "" "pathogenic (dominant)" "" "0000400840" "0" "90" "6" "52343862" "52343862" "subst" "0.000105652" "01862" "EFHC1_000038" "g.52343862C>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Arg436Cys" "" "Germline" "" "" "0" "" "" "g.52479064C>T" "" "pathogenic (dominant)" "" "0000400841" "0" "90" "6" "52344009" "52344009" "subst" "4.06326E-6" "01862" "EFHC1_000040" "g.52344009T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Tyr485His" "" "Germline" "" "" "0" "" "" "g.52479211T>C" "" "pathogenic (dominant)" "" "0000400842" "0" "90" "6" "52344501" "52344501" "subst" "0" "01862" "EFHC1_000041" "g.52344501A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Asn519Ser" "" "Germline" "" "" "0" "" "" "g.52479703A>G" "" "pathogenic (dominant)" "" "0000400843" "0" "90" "6" "52354963" "52354963" "subst" "4.06928E-6" "01862" "EFHC1_000043" "g.52354963G>T" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Val556Leu" "" "Germline" "" "" "0" "" "" "g.52490165G>T" "" "pathogenic (dominant)" "" "0000400844" "0" "90" "6" "52357072" "52357072" "subst" "0.000162627" "01862" "EFHC1_000047" "g.52357072T>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Ile619Ser" "" "Germline" "" "" "0" "" "" "g.52492274T>G" "" "pathogenic (dominant)" "" "0000400845" "0" "90" "6" "52357108" "52357108" "subst" "7.72245E-5" "01862" "EFHC1_000048" "g.52357108A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Tyr631Cys" "" "Germline" "" "" "0" "" "" "g.52492310A>G" "" "pathogenic (dominant)" "" "0000400846" "0" "90" "6" "52357108" "52357108" "subst" "7.72245E-5" "01862" "EFHC1_000048" "g.52357108A>G" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "Tyr631Cys" "" "Germline" "" "" "0" "" "" "g.52492310A>G" "" "pathogenic (dominant)" "" "0000400850" "0" "10" "6" "52285394" "52285394" "subst" "0" "00006" "EFHC1_000027" "g.52285394G>C" "158/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs12206743" "0" "" "" "g.52420596G>C" "" "benign" "" "0000400851" "0" "10" "6" "52303291" "52303291" "subst" "0.101737" "00006" "EFHC1_000029" "g.52303291C>T" "70/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs3804506" "0" "" "" "g.52438493C>T" "" "benign" "" "0000400852" "0" "10" "6" "52303361" "52303361" "subst" "0.0603671" "00006" "EFHC1_000009" "g.52303361G>A" "75/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs3804505" "0" "" "" "g.52438563G>A" "" "benign" "" "0000400853" "0" "10" "6" "52303335" "52303335" "subst" "0" "00006" "EFHC1_000030" "g.52303335G>T" "9/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "rs539295" "0" "" "" "" "" "benign" "" "0000400854" "0" "10" "6" "52303399" "52303399" "subst" "0.237807" "00006" "EFHC1_000031" "g.52303399A>G" "199/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs9349626" "0" "" "" "g.52438601A>G" "" "benign" "" "0000400855" "0" "10" "6" "52317573" "52317573" "subst" "0.000905812" "00006" "EFHC1_000032" "g.52317573C>T" "4/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs139197513" "0" "" "" "g.52452775C>T" "" "benign" "" "0000400856" "0" "10" "6" "52317597" "52317597" "subst" "0.00350113" "00006" "EFHC1_000010" "g.52317597T>C" "5/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs137852776" "0" "" "" "g.52452799T>C" "" "benign" "" "0000400857" "0" "10" "6" "52319050" "52319050" "subst" "0.0103052" "00006" "EFHC1_000014" "g.52319050G>A" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs1570624" "0" "" "" "g.52454252G>A" "" "benign" "" "0000400858" "0" "10" "6" "52334371" "52334371" "subst" "0" "00006" "EFHC1_000037" "g.52334371T>C" "193/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs62407897" "0" "" "" "g.52469573T>C" "" "benign" "" "0000400859" "0" "10" "6" "52343899" "52343899" "subst" "0.0351857" "00006" "EFHC1_000039" "g.52343899T>C" "9/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs1266787" "0" "" "" "g.52479101T>C" "" "benign" "" "0000400860" "0" "10" "6" "52344662" "52344662" "subst" "0" "00006" "EFHC1_000042" "g.52344662A>C" "11/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs515432" "0" "" "" "g.52479864A>C" "" "benign" "" "0000400861" "0" "10" "6" "52354972" "52354972" "subst" "0.000166764" "00006" "EFHC1_000044" "g.52354972T>C" "1/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs145194882" "0" "" "" "g.52490174T>C" "" "benign" "" "0000400862" "0" "10" "6" "52355206" "52355206" "subst" "0" "00006" "EFHC1_000045" "g.52355206T>C" "434/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs2273120" "0" "" "" "g.52490408T>C" "" "benign" "" "0000400863" "0" "10" "6" "52357071" "52357071" "subst" "0.0625925" "00006" "EFHC1_000046" "g.52357071A>C" "4/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "" "Germline" "" "rs17851770" "0" "" "" "g.52492273A>C" "" "benign" "" "0000400864" "0" "10" "6" "52357260" "52357260" "subst" "0.893995" "00006" "EFHC1_000049" "g.52357260C>A" "94/480 cases JME" "{PMID:Raju 2017:28370826}, {DOI:Raju 2017:10.1002/humu.23221}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "rs7757370" "0" "" "" "" "" "benign" "" "0000529123" "0" "50" "6" "52288754" "52288754" "subst" "0" "02327" "EFHC1_000050" "g.52288754T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52423956T>C" "" "VUS" "" "0000529124" "0" "10" "6" "52317281" "52317281" "subst" "0" "02326" "EFHC1_000051" "g.52317281G>A" "" "" "" "EFHC1(NM_018100.4):c.574-205G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452483G>A" "" "benign" "" "0000529125" "0" "10" "6" "52329845" "52329845" "subst" "0.000450956" "02326" "EFHC1_000052" "g.52329845G>A" "" "" "" "EFHC1(NM_018100.4):c.1069G>A (p.E357K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52465047G>A" "" "benign" "" "0000529126" "0" "10" "6" "52334337" "52334337" "dup" "0" "02326" "EFHC1_000053" "g.52334337dup" "" "" "" "EFHC1(NM_018100.4):c.1278+66dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52469539dup" "" "benign" "" "0000610389" "0" "50" "6" "52288817" "52288817" "subst" "0" "02327" "EFHC1_000054" "g.52288817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52424019G>A" "" "VUS" "" "0000621719" "0" "30" "6" "52317741" "52317741" "subst" "0" "02325" "EFHC1_000011" "g.52317741C>T" "" "" "" "EFHC1(NM_018100.4):c.723+106C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452943C>T" "" "likely benign" "" "0000652012" "1" "30" "6" "52343899" "52343899" "subst" "0.0351857" "03575" "EFHC1_000039" "g.52343899T>C" "52/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous, no homozygous; {DB:CLININrs1266787}" "Germline" "" "rs1266787" "0" "" "" "g.52479101T>C" "" "likely benign" "" "0000652013" "1" "50" "6" "52344049" "52344049" "subst" "2.03188E-5" "03575" "EFHC1_000055" "g.52344049G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs191404037}" "Germline" "" "rs191404037" "0" "" "" "g.52479251G>A" "" "VUS" "" "0000721000" "0" "30" "6" "52288739" "52288739" "subst" "0.000870478" "02325" "EFHC1_000056" "g.52288739T>C" "" "" "" "EFHC1(NM_018100.4):c.64-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787267" "0" "50" "6" "52288885" "52288886" "ins" "0" "00006" "EFHC1_000057" "g.52288885_52288886insAACAGG" "" "{PMID:Ganapathy 2019:31069529}" "" "c.202_203insAGGAACCAGTC" "" "Germline" "" "" "0" "" "" "g.52424087_52424088insAACAGG" "" "VUS" "" "0000787268" "0" "50" "6" "52318969" "52318969" "subst" "0" "00006" "EFHC1_000058" "g.52318969A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs886061629" "0" "" "" "g.52454171A>G" "{CV-RCV:000260926}" "VUS" "" "0000795473" "0" "50" "6" "52329834" "52329834" "subst" "0.000203125" "01164" "EFHC1_000059" "g.52329834G>A" "" "PMID: 26423924" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "" "" "" "" "" "RCV001086524" "VUS" "ACMG" "0000851254" "0" "30" "6" "52303394" "52303394" "subst" "4.07087E-5" "02325" "EFHC1_000060" "g.52303394A>G" "" "" "" "EFHC1(NM_018100.4):c.573+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887341" "0" "30" "6" "52343941" "52343941" "subst" "0.000158484" "02325" "EFHC1_000019" "g.52343941T>C" "" "" "" "EFHC1(NM_018100.4):c.1385T>C (p.I462T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887342" "0" "50" "6" "52344449" "52344449" "subst" "0" "02325" "EFHC1_000061" "g.52344449C>T" "" "" "" "EFHC1(NM_018100.4):c.1504C>T (p.R502W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924540" "0" "30" "6" "52288777" "52288777" "subst" "0.000211181" "02325" "EFHC1_000007" "g.52288777T>C" "" "" "" "EFHC1(NM_018100.4):c.97T>C (p.Y33H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933283" "11" "90" "6" "52344557" "52344557" "subst" "3.25061E-5" "00006" "EFHC1_000062" "g.52344557C>T" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline" "" "" "0" "" "" "g.52479759C>T" "" "likely pathogenic (dominant)" "" "0000935974" "0" "90" "6" "52319055" "52319055" "subst" "3.24976E-5" "00006" "EFHC1_000063" "g.52319055C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52454257C>T" "" "pathogenic (dominant)" "" "0000936032" "0" "90" "6" "52319014" "52319014" "dup" "0" "00006" "EFHC1_000064" "g.52319014dup" "" "{PMID:Chuan 2022:35571021}" "" "845dupA" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.52454216dup" "" "pathogenic" "ACMG" "0000977300" "0" "30" "6" "52355065" "52355065" "subst" "6.09746E-5" "01804" "EFHC1_000065" "g.52355065G>C" "" "" "" "EFHC1(NM_018100.4):c.1768G>C (p.(Ala590Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995814" "0" "50" "6" "52319004" "52319004" "subst" "0" "02325" "EFHC1_000066" "g.52319004C>T" "" "" "" "EFHC1(NM_018100.4):c.835C>T (p.H279Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995815" "0" "50" "6" "52334176" "52334176" "subst" "0" "01804" "EFHC1_000067" "g.52334176C>T" "" "" "" "EFHC1(NM_018100.3):c.1183C>T (p.(Gln395*))" "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 EFHC1 ## Count = 95 "{{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}}" "0000154445" "00006908" "70" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Glu322Lys)" "6" "0000154446" "00006908" "70" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Lys378Glu)" "6" "0000252143" "00006908" "30" "1138" "-157" "1138" "-157" "c.1138-157A>T" "r.(=)" "p.(=)" "" "0000252144" "00006908" "30" "1279" "-85" "1279" "-85" "c.1279-85A>C" "r.(=)" "p.(=)" "" "0000267771" "00006908" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "0000271083" "00006908" "30" "-124" "0" "-124" "0" "c.-124T>C" "r.(?)" "p.(=)" "" "0000271085" "00006908" "30" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Ile462Thr)" "" "0000271086" "00006908" "30" "1852" "-201" "1852" "-201" "c.1852-201del" "r.(=)" "p.(=)" "" "0000271087" "00006908" "30" "1852" "-58" "1852" "-58" "c.1852-58T>C" "r.(=)" "p.(=)" "" "0000271088" "00006908" "10" "475" "0" "475" "0" "c.475C>G" "r.(?)" "p.(Arg159Gly)" "" "0000271089" "00006908" "10" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "0000271090" "00006908" "30" "64" "-159" "64" "-159" "c.64-159C>T" "r.(=)" "p.(=)" "" "0000271091" "00006908" "10" "64" "-54" "64" "-54" "c.64-54del" "r.(=)" "p.(=)" "" "0000271092" "00006908" "30" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "" "0000271093" "00006908" "30" "723" "106" "723" "106" "c.723+106C>T" "r.(=)" "p.(=)" "" "0000271094" "00006908" "30" "724" "-135" "724" "-135" "c.724-135del" "r.(=)" "p.(=)" "" "0000271095" "00006908" "30" "724" "-81" "724" "-81" "c.724-81G>A" "r.(=)" "p.(=)" "" "0000271096" "00006908" "30" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "" "0000271097" "00006908" "30" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296His)" "" "0000271098" "00006908" "30" "97" "0" "97" "0" "c.97T>C" "r.(?)" "p.(Tyr33His)" "" "0000400809" "00006908" "30" "685" "0" "685" "0" "c.685T>C^687T>R" "r.(?)" "p.(Phe229Leu)" "" "0000400810" "00006908" "50" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(Pro77Thr)" "" "0000400811" "00006908" "50" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221His)" "" "0000400812" "00006908" "50" "229" "0" "229" "0" "c.229C>A" "r.(?)" "p.(Pro77Thr)" "" "0000400813" "00006908" "50" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Arg221His)" "" "0000400814" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "" "0000400815" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "" "0000400816" "00006908" "90" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Asp210Asn)" "" "0000400817" "00006908" "90" "757" "0" "757" "0" "c.757G>T" "r.(?)" "p.(Asp253Tyr)" "" "0000400818" "00006908" "93" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "0000400819" "00006908" "90" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(His89Arg)" "2" "0000400820" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400821" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400822" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400823" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400824" "00006908" "90" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400825" "00006908" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Glu322Lys)" "6" "0000400826" "00006908" "90" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Arg353Trp)" "6" "0000400827" "00006908" "90" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Arg353Trp)" "6" "0000400828" "00006908" "90" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Arg353Trp)" "6" "0000400829" "00006908" "90" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Arg353Trp)" "6" "0000400830" "00006908" "90" "1064" "0" "1064" "0" "c.1064A>G" "r.(?)" "p.(Tyr355Cys)" "6" "0000400831" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400832" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400833" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400834" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400835" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400836" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400837" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400838" "00006908" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Trp)" "6" "0000400839" "00006908" "90" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Lys378Glu)" "6" "0000400840" "00006908" "90" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Arg436Cys)" "8" "0000400841" "00006908" "90" "1453" "0" "1453" "0" "c.1453T>C" "r.(?)" "p.(Tyr485His)" "8" "0000400842" "00006908" "90" "1556" "0" "1556" "0" "c.1556A>G" "r.(?)" "p.(Asn519Ser)" "9" "0000400843" "00006908" "90" "1666" "0" "1666" "0" "c.1666G>T" "r.(?)" "p.(Val556Leu)" "10" "0000400844" "00006908" "90" "1856" "0" "1856" "0" "c.1856T>G" "r.(?)" "p.(Ile619Ser)" "11" "0000400845" "00006908" "90" "1892" "0" "1892" "0" "c.1892A>G" "r.(?)" "p.(Tyr631Cys)" "11" "0000400846" "00006908" "90" "1892" "0" "1892" "0" "c.1892A>G" "r.(?)" "p.(Tyr631Cys)" "11" "0000400850" "00006908" "10" "63" "123" "63" "123" "c.63+123G>C" "r.(?)" "p.(=)" "1i" "0000400851" "00006908" "10" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Trp)" "3" "0000400852" "00006908" "10" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "3" "0000400853" "00006908" "10" "573" "-54" "573" "-54" "c.573-54G>T" "r.(?)" "p.(=)" "3" "0000400854" "00006908" "10" "573" "10" "573" "10" "c.573+10A>G" "r.(?)" "p.(=)" "3i" "0000400855" "00006908" "10" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Cys)" "4" "0000400856" "00006908" "10" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Phe229Leu)" "4" "0000400857" "00006908" "10" "881" "0" "881" "0" "c.881G>A" "r.(?)" "p.(Arg294His)" "5" "0000400858" "00006908" "10" "1278" "100" "1278" "100" "c.1278+100T>C" "r.(?)" "p.(=)" "7i" "0000400859" "00006908" "10" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Met448Thr)" "8" "0000400860" "00006908" "10" "1640" "77" "1640" "77" "c.1640+77A>C" "r.(?)" "p.(=)" "9i" "0000400861" "00006908" "10" "1675" "0" "1675" "0" "c.1675T>C" "r.(?)" "p.(=)" "10" "0000400862" "00006908" "10" "1851" "58" "1851" "58" "c.1851+58T>C" "r.(?)" "p.(=)" "10i" "0000400863" "00006908" "10" "1855" "0" "1855" "0" "c.1855A>C" "r.(?)" "p.(Ile619Leu)" "11" "0000400864" "00006908" "10" "1923" "121" "1923" "121" "c.1923+121C>A" "r.(?)" "p.(=)" "11" "0000529123" "00006908" "50" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Phe25Ser)" "" "0000529124" "00006908" "10" "574" "-205" "574" "-205" "c.574-205G>A" "r.(=)" "p.(=)" "" "0000529125" "00006908" "10" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Glu357Lys)" "" "0000529126" "00006908" "10" "1278" "66" "1278" "66" "c.1278+66dup" "r.(=)" "p.(=)" "" "0000610389" "00006908" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Glu)" "" "0000621719" "00006908" "30" "723" "106" "723" "106" "c.723+106C>T" "r.(=)" "p.(=)" "" "0000652012" "00006908" "30" "1343" "0" "1343" "0" "c.1343T>C" "r.(?)" "p.(Met448Thr)" "" "0000652013" "00006908" "50" "1492" "1" "1492" "1" "c.1492+1G>A" "r.spl?" "p.?" "" "0000721000" "00006908" "30" "64" "-5" "64" "-5" "c.64-5T>C" "r.spl?" "p.?" "" "0000787267" "00006908" "50" "" "0" "" "0" "cc.205_206insAACAGG" "r.(?)" "p.(Lys68_Ala69insGluGln)" "2" "0000787268" "00006908" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Tyr267Cys)" "5" "0000795473" "00006908" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "" "0000851254" "00006908" "30" "573" "5" "573" "5" "c.573+5A>G" "r.spl?" "p.?" "" "0000887341" "00006908" "30" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Ile462Thr)" "" "0000887342" "00006908" "50" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502Trp)" "" "0000924540" "00006908" "30" "97" "0" "97" "0" "c.97T>C" "r.(?)" "p.(Tyr33His)" "" "0000933283" "00006908" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538*)" "" "0000935974" "00006908" "90" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296Cys)" "" "0000936032" "00006908" "90" "845" "0" "845" "0" "c.845dup" "r.(?)" "p.(Asn282Lysfs*2)" "" "0000977300" "00006908" "30" "1768" "0" "1768" "0" "c.1768G>C" "r.(?)" "p.(Ala590Pro)" "" "0000995814" "00006908" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(His279Tyr)" "" "0000995815" "00006908" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Gln395*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{variantid}}" "0000095824" "0000154445" "0000095825" "0000154446" "0000177906" "0000400809" "0000177925" "0000400810" "0000177925" "0000400811" "0000177926" "0000400812" "0000177926" "0000400813" "0000177927" "0000400814" "0000177928" "0000400815" "0000177929" "0000400816" "0000177930" "0000400817" "0000177931" "0000400818" "0000177932" "0000400819" "0000177933" "0000400820" "0000177934" "0000400821" "0000177935" "0000400822" "0000177936" "0000400823" "0000177937" "0000400824" "0000177938" "0000400825" "0000177939" "0000400826" "0000177940" "0000400827" "0000177941" "0000400828" "0000177942" "0000400829" "0000177943" "0000400830" "0000177944" "0000400831" "0000177945" "0000400832" "0000177946" "0000400833" "0000177947" "0000400834" "0000177948" "0000400835" "0000177949" "0000400836" "0000177950" "0000400837" "0000177951" "0000400838" "0000177952" "0000400839" "0000177953" "0000400840" "0000177954" "0000400841" "0000177955" "0000400842" "0000177956" "0000400843" "0000177957" "0000400844" "0000177958" "0000400845" "0000177959" "0000400846" "0000177963" "0000400850" "0000177964" "0000400851" "0000177965" "0000400852" "0000177966" "0000400853" "0000177967" "0000400854" "0000177968" "0000400855" "0000177969" "0000400856" "0000177970" "0000400857" "0000177971" "0000400858" "0000177972" "0000400859" "0000177973" "0000400860" "0000177974" "0000400861" "0000177975" "0000400862" "0000177976" "0000400863" "0000177977" "0000400864" "0000295323" "0000652012" "0000295324" "0000652013" "0000375916" "0000787267" "0000375917" "0000787268" "0000381909" "0000795473" "0000437839" "0000933283" "0000439784" "0000936032" "0000439845" "0000935974"