### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ETFDH) # 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}}" "ETFDH" "electron-transferring-flavoprotein dehydrogenase" "4" "q32-q35" "unknown" "NG_007078.2" "UD_132118877159" "" "https://www.LOVD.nl/ETFDH" "" "1" "3483" "2110" "231675" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ETFDH_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-13 14:35:19" "00000" "2025-11-01 13:22:20" ## 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}}" "00007266" "ETFDH" "electron-transferring-flavoprotein dehydrogenase" "001" "NM_004453.2" "" "NP_004444.2" "" "" "" "-332" "2017" "1854" "159593277" "159629842" "" "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" "01816" "MADD" "acyl-CoA dehydrogenation deficiency, multiple (MADD)" "AR" "231680" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ETFDH" "01816" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00035696" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035697" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035698" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035699" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035700" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035701" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035702" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035703" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035704" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035705" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035706" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035707" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035708" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035710" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035711" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00052039" "" "" "" "1" "" "01407" "" "" "" "" "" "" "0" "" "" "" "" "00180982" "" "" "" "1" "" "02568" "" "" "M" "" "" "" "0" "" "" "" "" "00181065" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00230984" "" "" "" "1" "" "03022" "" "" "" "yes" "" "2d" "0" "" "" "" "" "00263297" "" "" "" "1" "" "01482" "" "" "F" "no" "China" "" "0" "" "" "Han Chinese" "" "00265258" "" "" "" "1" "" "03426" "" "" "F" "" "Spain" "" "0" "" "" "" "" "00293571" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295639" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00301529" "" "" "" "1" "" "03678" "" "compound heterozygous patient, unaffected heterozygous parents" "F" "no" "Greece" "07y" "" "" "" "" "" "00314290" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00431873" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y03m" "" "" "" "Europe" "SIDS044" "00453493" "" "" "" "1" "" "00006" "{DOI:Martino 2024:10.3390/ijms25179637}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "patient" "00453494" "" "" "" "1" "" "00006" "{DOI:Nogueira 2021:34064479}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Portugal" "" "0" "" "" "" "FamPat1" "00453495" "" "" "" "1" "" "00006" "{DOI:Nogueira 2021:34064479}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "FamPat2" "00453496" "" "" "" "1" "" "00006" "{DOI:Nogueira 2021:34064479}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Portugal" "" "0" "" "" "" "FamPat3" "00453497" "" "" "" "2" "" "00006" "{DOI:Nogueira 2021:34064479}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "FamPat4" "00453669" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat85" "00453694" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat110" "00453713" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat140" "00467349" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "patient" "M" "" "China" "" "0" "" "" "" "Pat_13" "00467353" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "patient" "F" "" "China" "" "0" "" "" "" "Pat_27" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00035700" "00198" "00035702" "00198" "00035703" "00198" "00035704" "00198" "00035705" "00198" "00035706" "00198" "00035707" "00198" "00035708" "00198" "00035710" "00198" "00035711" "00198" "00180982" "01816" "00181065" "01816" "00230984" "01816" "00263297" "01816" "00265258" "01816" "00293571" "00198" "00295639" "00198" "00301529" "01816" "00314290" "05126" "00431873" "02087" "00453493" "01816" "00453494" "01816" "00453495" "01816" "00453496" "01816" "00453497" "01816" "00453669" "02554" "00453694" "02554" "00453713" "02554" "00467349" "05611" "00467353" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01816, 02087, 02554, 05126, 05611 ## Count = 26 "{{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}}" "0000143263" "01816" "00180982" "02568" "Familial, autosomal recessive" "" "(HP:0045045) Elevated plasma acylcarnitine levels" "" "" "" "" "" "" "" "" "" "" "" "0000143318" "01816" "00181065" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156224" "00198" "00035700" "01164" "Unknown" "" "progressive hyptonia und ataxia, leukodystrophy , acute dekompensation with hypoglycaemia and clouded awareness" "" "" "" "" "" "" "" "" "" "hypotonia" "" "0000156225" "00198" "00035702" "01164" "Unknown" "" "suspected MAD-deficiency" "" "" "" "" "" "" "" "" "" "MAD-deficiency?" "" "0000156226" "00198" "00035703" "01164" "Unknown" "" "rhabdomyolysis" "" "" "" "" "" "" "" "" "" "rhabdomyolysis" "" "0000156227" "00198" "00035704" "01164" "Unknown" "" "Chanarin-Dorfman syndrome" "" "" "" "" "" "" "" "" "" "Chanarin-Dorfman syndrome" "" "0000156228" "00198" "00035705" "01164" "Unknown" "" "hepatopathy" "" "" "" "" "" "" "" "" "" "hepatopathy" "" "0000156229" "00198" "00035706" "01164" "Unknown" "" "MGZ #67347: carrier for ETFDH-mutation" "" "" "" "" "" "" "" "" "" "ETFDH variant carrier" "" "0000156230" "00198" "00035707" "01164" "Unknown" "" "early childhood autism" "" "" "" "" "" "" "" "" "" "autism" "" "0000156231" "00198" "00035708" "01164" "Unknown" "" "ETFDH-deficiency" "" "" "" "" "" "" "" "" "" "ETFDH-deficiency" "" "0000156232" "00198" "00035711" "01164" "Unknown" "" "suspected MAD-deficiency" "" "" "" "" "" "" "" "" "" "MAD-deficiency?" "" "0000173468" "01816" "00230984" "03022" "Familial, autosomal recessive" "" "severe form" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenation deficiency" "" "0000201655" "01816" "00263297" "01482" "Familial, autosomal recessive" "" "muscle weakness, muscular hypotonia, mild myogenic damage，myocardial damage，fatty liver" "" "" "" "" "" "" "" "" "" "" "" "0000223203" "00198" "00295639" "01164" "Unknown" "" "Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000228660" "01816" "00301529" "03678" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322441" "02087" "00431873" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000342151" "01816" "00453493" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 32w-urgent caesarean section due to cardiotocographic alterations in primigravida, 31w-pregnancy complicated by oligo-hydramnios, intrauterine fetal growth retardation, significantly hypotonic, weight 1470g (24th centile), length 40cm (21st centile), OFC 31cm (84th centile)" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenase deficiency" "" "0000342152" "01816" "00453494" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., newborn screening" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenase deficiency" "" "0000342153" "01816" "00453495" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenase deficiency" "" "0000342154" "01816" "00453496" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenase deficiency" "" "0000342155" "01816" "00453497" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening" "" "" "" "" "" "" "" "" "MADD" "multiple acyl-CoA dehydrogenase deficiency" "" "0000342326" "02554" "00453669" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342351" "02554" "00453694" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342370" "02554" "00453713" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MADD" "inborn error of metabolism" "" "0000352556" "05611" "00467349" "00006" "Familial, autosomal recessive" "" "hypoglycemia, ketonuria, hyperammonemia, increased serum lactate, motor delay, exercise-induced muscle fatigue, pneumonia, dyspnea, decreased liver function, hepatomegaly" "2.5y" "" "" "" "" "" "" "" "MADD" "neurodevelopmental delay, dyspnea" "" "0000352560" "05611" "00467353" "00006" "Familial, autosomal recessive" "" "fever, cough, palpitations, decreased achilles reflex, pneumonia, myocarditis, muscular hypotonia, hypothyroidism, decreased liver function, moderate obstructive ventilatory dysfunction" "10y" "" "" "" "" "" "" "" "MADD" "neurodevelopmental delay, dyspnea" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035766" "00035696" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035767" "00035697" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035768" "00035698" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035769" "00035699" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035770" "00035700" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035771" "00035701" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035772" "00035702" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035773" "00035703" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035774" "00035704" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035775" "00035705" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035776" "00035706" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035777" "00035707" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035778" "00035708" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035780" "00035710" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035781" "00035711" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000051987" "00052039" "1" "01407" "01407" "2015-10-04 10:10:59" "" "" "SEQ" "DNA" "blood" "" "0000181945" "00180982" "1" "02568" "02568" "2018-09-20 13:10:36" "" "" "SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000182013" "00181065" "1" "02568" "02568" "2018-09-21 15:06:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000232080" "00230984" "1" "03022" "00006" "2013-06-13 00:12:48" "00006" "2013-06-14 11:36:07" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000264402" "00263297" "1" "01482" "01482" "2019-08-24 07:10:22" "00006" "2019-08-27 08:33:09" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "" "0000266377" "00265258" "1" "03426" "03426" "2019-09-18 12:04:47" "" "" "SEQ-NG-IT" "DNA" "" "" "0000294739" "00293571" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296811" "00295639" "1" "01164" "01164" "2020-03-22 12:43:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000302654" "00301529" "1" "03678" "03678" "2020-05-18 17:43:46" "" "" "SEQ-NG" "DNA" "" "" "0000315463" "00314290" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433312" "00431873" "1" "01602" "01602" "2023-02-17 14:33:18" "" "" "SEQ-NG" "DNA" "" "" "0000455107" "00453493" "1" "00006" "00006" "2024-09-07 20:01:51" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES, WGS" "0000455108" "00453494" "1" "00006" "00006" "2024-09-07 22:14:40" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000455109" "00453495" "1" "00006" "00006" "2024-09-07 22:14:40" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000455110" "00453496" "1" "00006" "00006" "2024-09-07 22:14:40" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000455111" "00453497" "1" "00006" "00006" "2024-09-07 22:14:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455281" "00453669" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455306" "00453694" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455325" "00453713" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000469012" "00467349" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469016" "00467353" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000035766" "ETFDH" "0000035767" "ETFDH" "0000035768" "ETFDH" "0000035769" "ETFDH" "0000035770" "ETFDH" "0000035771" "ETFDH" "0000035772" "ETFDH" "0000035773" "ETFDH" "0000035774" "ETFDH" "0000035775" "ETFDH" "0000035776" "ETFDH" "0000035777" "ETFDH" "0000035778" "ETFDH" "0000035780" "ETFDH" "0000035781" "ETFDH" "0000051987" "ETFDH" "0000181945" "ETFDH" "0000182013" "ETFDH" "0000232080" "ETFDH" "0000264402" "ETFDH" "0000266377" "ETFDH" "0000302654" "ETFDH" "0000315463" "ETFDH" ## 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 = 85 "{{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}}" "0000062891" "1" "50" "4" "159627981" "159627981" "subst" "8.13802E-6" "01164" "ETFDH_000009" "g.159627981G>A" "" "" "" "" "Polyphen-2: probably damaging (PSIC:1.977)" "Germline" "" "" "0" "" "" "g.158706829G>A" "" "VUS" "" "0000062892" "1" "50" "4" "159624602" "159624602" "subst" "0" "01164" "ETFDH_000005" "g.159624602G>A" "" "" "" "" "alamut:polyphen-2: probably damaging (PSIC: 0.994)" "Germline" "" "" "0" "" "" "g.158703450G>A" "" "VUS" "" "0000062893" "1" "50" "4" "159624573" "159624573" "subst" "0" "01164" "ETFDH_000003" "g.159624573A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158703421A>G" "" "VUS" "" "0000062894" "1" "10" "4" "159606206" "159606206" "subst" "0.00318086" "01164" "ETFDH_000012" "g.159606206T>C" "MAF 0.001" "" "" "" "" "Germline" "" "rs190920235" "0" "" "" "g.158685054T>C" "" "benign" "" "0000062895" "3" "50" "4" "159620272" "159620272" "subst" "4.06227E-6" "01164" "ETFDH_000002" "g.159620272G>C" "" "" "" "" "polyphen-2: probably damaging (PSIC: 2,31)" "Germline" "" "" "0" "" "" "g.158699120G>C" "" "VUS" "" "0000062896" "1" "50" "4" "159624599" "159624599" "subst" "0" "01164" "ETFDH_000004" "g.159624599G>C" "" "" "" "" "alamut:polyphen-2: probably damaging (PSIC: 1,0)" "Germline" "" "" "0" "" "" "g.158703447G>C" "" "VUS" "" "0000062897" "1" "50" "4" "159627505" "159627505" "subst" "0" "01164" "ETFDH_000007" "g.159627505T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158706353T>C" "" "VUS" "" "0000062898" "1" "50" "4" "159618720" "159618720" "subst" "8.99112E-5" "01164" "ETFDH_000014" "g.159618720A>G" "" "" "" "" "p.Ile281Val; PolyPhen-2: benign (PSIC: 0,3)" "Germline" "" "" "0" "" "" "g.158697568A>G" "" "VUS" "" "0000062899" "1" "50" "4" "159627856" "159627856" "subst" "0" "01164" "ETFDH_000008" "g.159627856G>T" "" "" "" "" "Polyphen-2: probably damaging(PSIC: 0,99)" "Germline" "" "" "0" "" "" "g.158706704G>T" "" "VUS" "" "0000062900" "1" "50" "4" "159603552" "159603552" "subst" "0.000783884" "01164" "ETFDH_000015" "g.159603552C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158682400C>T" "" "VUS" "" "0000062901" "1" "90" "4" "159629677" "159629677" "subst" "1.62493E-5" "01164" "ETFDH_000011" "g.159629677T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158708525T>C" "" "pathogenic" "" "0000062902" "1" "50" "4" "159627982" "159627982" "subst" "0" "01164" "ETFDH_000010" "g.159627982A>G" "" "" "" "" "Alamut:PolyPhen-2: probably damaging (PSIC:1,0)" "Germline" "" "" "0" "" "" "g.158706830A>G" "" "VUS" "" "0000062903" "1" "50" "4" "159611572" "159611572" "subst" "1.2185E-5" "01164" "ETFDH_000013" "g.159611572C>A" "" "" "" "" "Alamut: prob. damaging (0,915); Mut.Taster: disease causing" "Germline" "" "" "0" "" "" "g.158690420C>A" "" "VUS" "" "0000062905" "1" "50" "4" "159620139" "159620139" "subst" "4.0833E-6" "01164" "ETFDH_000017" "g.159620139G>T" "" "" "" "" "Alamut: Polyphen-2: possibly damaging (PSIC: 0,789)" "Germline" "" "" "0" "" "" "g.158698987G>T" "" "VUS" "" "0000062906" "1" "90" "4" "159603436" "159603437" "del" "0" "01164" "ETFDH_000016" "g.159603436_159603437del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158682284_158682285del" "" "pathogenic" "" "0000081421" "11" "70" "4" "159601649" "159601649" "subst" "0" "01407" "ETFDH_000018" "g.159601649A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.158680497A>G" "" "likely pathogenic" "" "0000081422" "0" "70" "4" "159603466" "159603466" "subst" "2.03097E-5" "01407" "ETFDH_000019" "g.159603466C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.158682314C>T" "" "likely pathogenic" "" "0000081423" "0" "70" "4" "159618799" "159618799" "subst" "0" "01407" "ETFDH_000020" "g.159618799C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.158697647C>G" "" "likely pathogenic" "" "0000081424" "0" "70" "4" "159627505" "159627505" "subst" "0" "01407" "ETFDH_000007" "g.159627505T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.158706353T>C" "" "likely pathogenic" "" "0000081431" "1" "50" "4" "159627326" "159627326" "subst" "0" "01164" "ETFDH_000006" "g.159627326T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158706174T>A" "" "VUS" "" "0000267900" "0" "10" "4" "159601676" "159601676" "subst" "0.820747" "02325" "ETFDH_000021" "g.159601676C>T" "" "" "" "ETFDH(NM_004453.4):c.92C>T (p.T31I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158680524C>T" "" "benign" "" "0000330157" "0" "50" "4" "159590838" "159590838" "del" "0" "01804" "C4orf46_000002" "g.159590838del" "" "" "" "C4orf46(NM_001008393.3):c.272del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669686del" "" "VUS" "" "0000330158" "0" "50" "4" "159590842" "159590842" "dup" "0" "01804" "C4orf46_000003" "g.159590842dup" "" "" "" "C4orf46(NM_001008393.3):c.265_266insA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.158669690dup" "" "VUS" "" "0000405719" "11" "70" "4" "159606289" "159606289" "subst" "1.62514E-5" "02568" "ETFDH_000031" "g.159606289G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158685137G>A" "" "likely pathogenic" "" "0000405720" "21" "70" "4" "159602711" "159602711" "subst" "0" "02568" "ETFDH_000030" "g.159602711C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158681559C>G" "" "likely pathogenic" "" "0000405825" "11" "70" "4" "159627494" "159627494" "subst" "0" "02568" "ETFDH_000032" "g.159627494G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.158706342G>A" "" "likely pathogenic" "" "0000474392" "3" "90" "4" "159601742" "159601742" "subst" "0" "03022" "ETFDH_000001" "g.159601742A>G" "" "" "" "" "exon 2 skipping" "Germline" "" "" "0" "" "" "g.158680590A>G" "" "pathogenic" "" "0000521924" "0" "50" "4" "159601663" "159601663" "subst" "4.06428E-6" "02327" "ETFDH_000034" "g.159601663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158680511C>T" "" "VUS" "" "0000521925" "0" "10" "4" "159601676" "159601676" "subst" "0.820747" "02327" "ETFDH_000021" "g.159601676C>T" "" "" "" "ETFDH(NM_004453.4):c.92C>T (p.T31I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158680524C>T" "" "benign" "" "0000521926" "0" "30" "4" "159618709" "159618709" "subst" "0" "01804" "ETFDH_000035" "g.159618709A>T" "" "" "" "ETFDH(NM_004453.2):c.832-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158697557A>T" "" "likely benign" "" "0000521927" "0" "50" "4" "159618710" "159618710" "subst" "0" "01943" "ETFDH_000036" "g.159618710G>T" "" "" "" "ETFDH(NM_004453.2):c.832-1G>T (p.?), ETFDH(NM_004453.3):c.832-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158697558G>T" "" "VUS" "" "0000521928" "0" "30" "4" "159618710" "159618710" "subst" "0" "01804" "ETFDH_000036" "g.159618710G>T" "" "" "" "ETFDH(NM_004453.2):c.832-1G>T (p.?), ETFDH(NM_004453.3):c.832-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158697558G>T" "" "likely benign" "" "0000521929" "0" "50" "4" "159618713" "159618713" "subst" "0" "01943" "ETFDH_000037" "g.159618713A>T" "" "" "" "ETFDH(NM_004453.2):c.834A>T (p.(Leu278Phe)), ETFDH(NM_004453.3):c.834A>T (p.L278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158697561A>T" "" "VUS" "" "0000521930" "0" "30" "4" "159618713" "159618713" "subst" "0" "01804" "ETFDH_000037" "g.159618713A>T" "" "" "" "ETFDH(NM_004453.2):c.834A>T (p.(Leu278Phe)), ETFDH(NM_004453.3):c.834A>T (p.L278F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158697561A>T" "" "likely benign" "" "0000521931" "0" "50" "4" "159629667" "159629667" "subst" "4.06213E-6" "02327" "ETFDH_000038" "g.159629667C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158708515C>A" "" "VUS" "" "0000521932" "0" "30" "4" "159631829" "159631829" "subst" "8.13676E-6" "01804" "ETFDH_000039" "g.159631829T>C" "" "" "" "PPID(NM_005038.2):c.982-7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.158710677T>C" "" "likely benign" "" "0000594958" "11" "90" "4" "159606344" "159606344" "subst" "0" "01482" "ETFDH_000040" "g.159606344A>G" "" "" "" "" "RNA splicing analysis in vivo and in vitro showed that this synonymous variant caused the skipping of exon 5 in which it located." "Germline" "yes" "" "0" "" "" "g.158685192A>G" "" "pathogenic" "" "0000594959" "21" "90" "4" "159629638" "159629638" "del" "0" "01482" "ETFDH_000041" "g.159629638del" "" "" "" "1812delG" "" "Germline" "" "" "0" "" "" "g.158708486del" "" "pathogenic" "" "0000597040" "10" "70" "4" "159618742" "159618742" "subst" "8.1285E-6" "03426" "ETFDH_000042" "g.159618742C>G" "" "" "" "" "inferred in trans with c.1439G>A" "Germline" "" "" "0" "" "" "g.158697590C>G" "" "VUS" "ACMG" "0000597041" "20" "70" "4" "159627494" "159627494" "subst" "0" "03426" "ETFDH_000032" "g.159627494G>A" "" "" "" "" "inferred in trans with c.863C>G" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000651428" "1" "50" "4" "159606337" "159606337" "subst" "0.000580687" "03575" "ETFDH_000044" "g.159606337G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs147219158}" "Germline" "" "rs147219158" "0" "" "" "g.158685185G>A" "" "VUS" "" "0000653524" "3" "70" "4" "159624588" "159624588" "subst" "4.06336E-6" "01164" "ETFDH_000045" "g.159624588T>C" "" "" "" "" "ACMG: PM2,PM3,PP1,PP3,PP4; Gempel et al. 2007. Brain 130: 2037; I??kay et al. 2017. Turk J Pediatr 59: 315" "Germline" "" "rs387907170" "0" "" "" "g.158703436T>C" "" "likely pathogenic" "ACMG" "0000665998" "11" "90" "4" "159627503" "159627503" "subst" "2.43823E-5" "03678" "ETFDH_000046" "g.159627503C>T" "" "" "" "" "" "Germline" "" "rs377656387" "0" "" "" "g.158706351C>T" "" "likely pathogenic (recessive)" "" "0000665999" "21" "70" "4" "159627987" "159627987" "subst" "0" "03678" "ETFDH_000047" "g.159627987C>T" "" "" "" "" "" "Germline" "" "rs186023896" "0" "" "" "g.158706835C>T" "" "likely pathogenic (recessive)" "" "0000677221" "0" "30" "4" "159627902" "159627902" "subst" "0.000268164" "01943" "ETFDH_000048" "g.159627902A>G" "" "" "" "ETFDH(NM_004453.3):c.1590A>G (p.E530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677222" "0" "30" "4" "159629637" "159629637" "subst" "0.000247788" "01943" "ETFDH_000049" "g.159629637G>A" "" "" "" "ETFDH(NM_004453.3):c.1812G>A (p.V604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689251" "0" "30" "4" "159606249" "159606249" "subst" "0" "01943" "ETFDH_000050" "g.159606249A>G" "" "" "" "ETFDH(NM_004453.3):c.488-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697552" "0" "70" "4" "159624685" "159624685" "subst" "0" "00006" "ETFDH_000051" "g.159624685A>C" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.158703533A>C" "" "likely pathogenic" "" "0000801559" "0" "30" "4" "159627845" "159627845" "subst" "0.0067466" "01943" "ETFDH_000052" "g.159627845T>C" "" "" "" "ETFDH(NM_004453.3):c.1533T>C (p.D511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859275" "0" "30" "4" "159618708" "159618709" "ins" "0" "01804" "ETFDH_000053" "g.159618708_159618709insTTTTTTTTTTTTTTT" "" "" "" "ETFDH(NM_004453.2):c.832-16_832-15insTTTTTTTTTTTTTTT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886178" "0" "70" "4" "159606372" "159606372" "subst" "4.0624E-6" "02327" "ETFDH_000054" "g.159606372G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000918957" "0" "70" "4" "159603529" "159603529" "subst" "2.84269E-5" "01602" "ETFDH_000055" "g.159603529G>C" "" "" "" "" "" "Unknown" "?" "rs376263577" "" "" "" "" "" "likely pathogenic" "ACMG" "0000928884" "0" "50" "4" "159616703" "159616703" "subst" "4.06451E-6" "02327" "ETFDH_000056" "g.159616703G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948281" "0" "90" "4" "159601736" "159601736" "subst" "8.12618E-5" "02327" "ETFDH_000057" "g.159601736G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976182" "0" "30" "4" "159603552" "159603552" "subst" "0.000783884" "01804" "ETFDH_000015" "g.159603552C>T" "" "" "" "ETFDH(NM_004453.4):c.381C>T (p.(Leu127=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976183" "0" "30" "4" "159606337" "159606337" "subst" "0.000580687" "01804" "ETFDH_000044" "g.159606337G>A" "" "" "" "ETFDH(NM_004453.4):c.572G>A (p.(Gly191Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976184" "0" "50" "4" "159620202" "159620202" "subst" "4.06256E-6" "01804" "ETFDH_000058" "g.159620202C>T" "" "" "" "ETFDH(NM_004453.4):c.1036C>T (p.(His346Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976185" "0" "50" "4" "159620265" "159620265" "subst" "0" "01804" "ETFDH_000059" "g.159620265A>G" "" "" "" "ETFDH(NM_004453.4):c.1099A>G (p.(Asn367Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007113" "11" "70" "4" "159629677" "159629677" "subst" "1.62493E-5" "00006" "ETFDH_000011" "g.159629677T>C" "" "{DOI:Martino 2024:10.3390/ijms25179637}" "" "" "ACMG PP5, PM2, PM4" "Germline" "" "" "0" "" "" "g.158708525T>C" "" "likely pathogenic (recessive)" "ACMG" "0001007114" "21" "70" "4" "159600660" "159600660" "subst" "0" "00006" "ETFDH_000060" "g.159600660A>G" "" "{DOI:Martino 2024:10.3390/ijms25179637}" "" "" "" "Germline" "" "" "0" "" "" "g.158679508A>G" "" "likely pathogenic (recessive)" "" "0001007115" "11" "90" "4" "159618849" "159618849" "subst" "0" "00006" "ETFDH_000066" "g.159618849G>A" "" "{DOI:Nogueira 2021:34064479}" "" "970A>G (Val324Met)" "" "Germline" "" "" "0" "" "" "g.158697697G>A" "" "pathogenic (recessive)" "" "0001007116" "11" "90" "4" "159601705" "159601705" "subst" "0" "00006" "ETFDH_000064" "g.159601705C>T" "" "{DOI:Nogueira 2021:34064479}" "" "" "" "Germline" "" "" "0" "" "" "g.158680553C>T" "" "pathogenic (recessive)" "" "0001007117" "11" "90" "4" "159600611" "159600611" "subst" "0" "00006" "ETFDH_000061" "g.159600611T>G" "" "{DOI:Nogueira 2021:34064479}" "" "" "" "Germline" "" "" "0" "" "" "g.158679459T>G" "" "pathogenic (recessive)" "" "0001007118" "11" "90" "4" "159601618" "159606372" "del" "0" "00006" "ETFDH_000063" "g.(159593643_159601618)_(159606372_159611499)del" "" "{DOI:Nogueira 2021:34064479}" "" "34_607del" "" "Germline" "" "" "0" "" "" "g.(158672491_158680466)_(158685220_158690347)del" "" "pathogenic (recessive)" "" "0001007119" "21" "90" "4" "159600851" "159600851" "subst" "0" "00006" "ETFDH_000062" "g.159600851A>G" "" "{DOI:Nogueira 2021:34064479}" "" "" "" "Germline" "" "" "0" "" "" "g.158679699A>G" "" "pathogenic (recessive)" "" "0001007120" "21" "90" "4" "159600611" "159600611" "subst" "0" "00006" "ETFDH_000061" "g.159600611T>G" "" "{DOI:Nogueira 2021:34064479}" "" "" "" "Germline" "" "" "0" "" "" "g.158679459T>G" "" "pathogenic (recessive)" "" "0001007121" "21" "90" "4" "159627960" "159627961" "del" "0" "00006" "ETFDH_000067" "g.159627960_159627961del" "" "{DOI:Nogueira 2021:34064479}" "" "1648_1649delCT" "" "Germline" "" "" "0" "" "" "g.158706808_158706809del" "" "pathogenic (recessive)" "" "0001007122" "21" "90" "4" "159605801" "159605801" "subst" "4.06253E-6" "00006" "ETFDH_000065" "g.159605801A>G" "" "{DOI:Nogueira 2021:34064479}" "" "" "" "Germline" "" "" "0" "" "" "g.158684649A>G" "" "pathogenic (recessive)" "" "0001007314" "11" "70" "4" "159606288" "159606288" "subst" "2.03123E-5" "00006" "ETFDH_000068" "g.159606288C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.158685136C>T" "" "likely pathogenic" "" "0001007339" "1" "70" "4" "159627494" "159627494" "subst" "0" "00006" "ETFDH_000032" "g.159627494G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.158706342G>A" "" "likely pathogenic" "" "0001007358" "1" "70" "4" "159606289" "159606289" "subst" "1.62514E-5" "00006" "ETFDH_000031" "g.159606289G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.158685137G>A" "" "likely pathogenic" "" "0001007427" "2" "70" "4" "159602711" "159602711" "subst" "0" "00006" "ETFDH_000030" "g.159602711C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.158681559C>G" "" "likely pathogenic" "" "0001024900" "0" "70" "4" "159618760" "159618760" "subst" "0" "02327" "ETFDH_000069" "g.159618760C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034414" "0" "50" "4" "159616695" "159616695" "subst" "8.13028E-6" "01804" "ETFDH_000070" "g.159616695T>C" "" "" "" "ETFDH(NM_004453.4):c.731T>C (p.(Phe244Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034415" "0" "50" "4" "159616704" "159616704" "subst" "0" "01804" "ETFDH_000071" "g.159616704G>A" "" "" "" "ETFDH(NM_004453.4):c.740G>A (p.(Gly247Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034416" "0" "50" "4" "159627391" "159627391" "subst" "0" "01804" "ETFDH_000072" "g.159627391A>C" "" "" "" "ETFDH(NM_004453.4):c.1336A>C (p.(Lys446Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046932" "0" "90" "4" "159601736" "159601736" "subst" "8.12618E-5" "03779" "ETFDH_000057" "g.159601736G>A" "" "" "" "" "" "Unknown" "" "rs534388496" "0" "" "" "" "" "pathogenic" "" "0001046933" "0" "70" "4" "159601736" "159601736" "subst" "8.12618E-5" "03779" "ETFDH_000057" "g.159601736G>A" "" "" "" "" "" "Unknown" "" "rs534388496" "0" "" "" "" "" "likely pathogenic" "" "0001046934" "0" "90" "4" "159629677" "159629677" "subst" "1.62493E-5" "03779" "ETFDH_000011" "g.159629677T>C" "" "" "" "" "" "Unknown" "" "rs765742496" "0" "" "" "" "" "pathogenic" "" "0001049161" "1" "90" "4" "159605811" "159605811" "subst" "0" "00006" "ETFDH_000073" "g.159605811T>G" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.158684659T>G" "" "pathogenic (recessive)" "" "0001049165" "1" "90" "4" "159616776" "159616776" "subst" "0" "00006" "ETFDH_000074" "g.159616776A>G" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.158695624A>G" "" "pathogenic (recessive)" "" "0001049172" "2" "90" "4" "159627913" "159627913" "subst" "2.43829E-5" "00006" "ETFDH_000076" "g.159627913C>T" "" "{PMID:Tong 2018:29581464}" "" "1601C> (Pro534Leu)" "" "Germline" "" "" "0" "" "" "g.158706761C>T" "" "pathogenic (recessive)" "" "0001049174" "2" "90" "4" "159618832" "159618832" "subst" "0" "00006" "ETFDH_000075" "g.159618832T>C" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.158697680T>C" "" "pathogenic (recessive)" "" "0001051867" "0" "70" "4" "159601620" "159601620" "del" "0" "01804" "ETFDH_000077" "g.159601620del" "" "" "" "ETFDH(NM_004453.4):c.36del (p.(Tyr13Ilefs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051868" "0" "50" "4" "159603518" "159603518" "subst" "0" "01804" "ETFDH_000078" "g.159603518G>A" "" "" "" "ETFDH(NM_004453.4):c.347G>A (p.(Gly116Glu))" "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 ETFDH ## Count = 85 "{{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}}" "0000062891" "00007266" "50" "1669" "0" "1669" "0" "c.1669G>A" "r.(?)" "p.(Glu557Lys)" "" "0000062892" "00007266" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Gly382Ser)" "" "0000062893" "00007266" "50" "1117" "-2" "1117" "-2" "c.1117-2A>G" "r.spl?" "p.?" "" "0000062894" "00007266" "10" "488" "-47" "488" "-47" "c.488-47T>C" "r.(=)" "p.(=)" "" "0000062895" "00007266" "50" "1106" "0" "1106" "0" "c.1106G>C" "r.(?)" "p.(Gly369Ala)" "" "0000062896" "00007266" "50" "1141" "0" "1141" "0" "c.1141G>C" "r.(?)" "p.(Gly381Arg)" "" "0000062897" "00007266" "50" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "" "0000062898" "00007266" "50" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Ile281Val)" "" "0000062899" "00007266" "50" "1544" "0" "1544" "0" "c.1544G>T" "r.(?)" "p.(Ser515Ile)" "" "0000062900" "00007266" "50" "381" "0" "381" "0" "c.381C>T" "r.(=)" "p.(=)" "" "0000062901" "00007266" "90" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(*618Glnext*13)" "" "0000062902" "00007266" "50" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(Glu557Gly)" "" "0000062903" "00007266" "50" "679" "0" "679" "0" "c.679C>A" "r.(?)" "p.(Pro227Thr)" "" "0000062905" "00007266" "50" "973" "0" "973" "0" "c.973G>T" "r.(spl?)" "p.(Val325Phe?)" "9" "0000062906" "00007266" "90" "265" "0" "266" "0" "c.265_266del" "r.(?)" "p.(Gln89Valfs*6)" "" "0000081421" "00007266" "70" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Lys22Arg)" "2" "0000081422" "00007266" "70" "295" "0" "295" "0" "c.295C>T" "r.(?)" "p.(Arg99Cys)" "3" "0000081423" "00007266" "70" "920" "0" "920" "0" "c.920C>G" "r.(?)" "p.(Ser307Cys)" "8" "0000081424" "00007266" "70" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "11" "0000081431" "00007266" "50" "1286" "-15" "1286" "-15" "c.1286-15T>A" "r.(spl?)" "p.(?)" "10i" "0000267900" "00007266" "10" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Ile)" "" "0000330157" "00007266" "50" "-2771" "0" "-2771" "0" "c.-2771del" "r.(?)" "p.(=)" "" "0000330158" "00007266" "50" "-2767" "0" "-2767" "0" "c.-2767dup" "r.(?)" "p.(=)" "" "0000405719" "00007266" "70" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "" "0000405720" "00007266" "70" "176" "-636" "176" "-636" "c.176-636C>G" "r.175_176ins176-635_176-581" "p.Gly59Valfs*54" "" "0000405825" "00007266" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "" "0000474392" "00007266" "90" "158" "0" "158" "0" "c.158A>G" "r.35_175del" "p.0" "2" "0000521924" "00007266" "50" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0000521925" "00007266" "10" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Thr31Ile)" "" "0000521926" "00007266" "30" "832" "-2" "832" "-2" "c.832-2A>T" "r.spl?" "p.?" "" "0000521927" "00007266" "50" "832" "-1" "832" "-1" "c.832-1G>T" "r.spl?" "p.?" "" "0000521928" "00007266" "30" "832" "-1" "832" "-1" "c.832-1G>T" "r.spl?" "p.?" "" "0000521929" "00007266" "50" "834" "0" "834" "0" "c.834A>T" "r.(?)" "p.(Leu278Phe)" "" "0000521930" "00007266" "30" "834" "0" "834" "0" "c.834A>T" "r.(?)" "p.(Leu278Phe)" "" "0000521931" "00007266" "50" "1842" "0" "1842" "0" "c.1842C>A" "r.(?)" "p.(Tyr614Ter)" "" "0000521932" "00007266" "30" "4004" "0" "4004" "0" "c.*2150T>C" "r.(=)" "p.(=)" "" "0000594958" "00007266" "90" "579" "0" "579" "0" "c.579A>G" "r.488_606del" "p.Leu164Profs*4" "5" "0000594959" "00007266" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Val605Tyrfs*34)" "13" "0000597040" "00007266" "70" "863" "0" "863" "0" "c.863C>G" "r.(?)" "p.(Pro288Arg)" "" "0000597041" "00007266" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "" "0000651428" "00007266" "50" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000653524" "00007266" "70" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0000665998" "00007266" "90" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Pro483Leu)" "" "0000665999" "00007266" "70" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559*)" "12" "0000677221" "00007266" "30" "1590" "0" "1590" "0" "c.1590A>G" "r.(?)" "p.(Glu530=)" "" "0000677222" "00007266" "30" "1812" "0" "1812" "0" "c.1812G>A" "r.(?)" "p.(Val604=)" "" "0000689251" "00007266" "30" "488" "-4" "488" "-4" "c.488-4A>G" "r.spl?" "p.?" "" "0000697552" "00007266" "70" "1227" "0" "1227" "0" "c.1227A>C" "r.(?)" "p.(Leu409Phe)" "" "0000801559" "00007266" "30" "1533" "0" "1533" "0" "c.1533T>C" "r.(?)" "p.(Asp511=)" "" "0000859275" "00007266" "30" "832" "-3" "832" "-2" "c.832-3_832-2insTTTTTTTTTTTTTTT" "r.spl?" "p.?" "" "0000886178" "00007266" "70" "606" "1" "606" "1" "c.606+1G>A" "r.spl?" "p.?" "" "0000918957" "00007266" "70" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Asp120His)" "" "0000928884" "00007266" "50" "739" "0" "739" "0" "c.739G>C" "r.(?)" "p.(Gly247Arg)" "" "0000948281" "00007266" "90" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "" "0000976182" "00007266" "30" "381" "0" "381" "0" "c.381C>T" "r.(?)" "p.(=)" "" "0000976183" "00007266" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Gly191Asp)" "" "0000976184" "00007266" "50" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(His346Tyr)" "" "0000976185" "00007266" "50" "1099" "0" "1099" "0" "c.1099A>G" "r.(?)" "p.(Asn367Asp)" "" "0001007113" "00007266" "70" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(*618Glnext*13)" "" "0001007114" "00007266" "70" "35" "-959" "35" "-959" "c.35-959A>G" "r.34_35ins35-1177_35-960" "p.Ala12GlyfsTer10" "1i" "0001007115" "00007266" "90" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Val324Met)" "" "0001007116" "00007266" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Ter)" "" "0001007117" "00007266" "90" "35" "-1008" "35" "-1008" "c.35-1008T>G" "r.34_35ins35-1177_35-1009" "p.Ala12GlyfsTer10" "1i" "0001007118" "00007266" "90" "35" "-1" "606" "1" "c.(34+1_35-1)_(606+1_607-1)del" "r.34_607del" "p.Ala12GlyrfsTer5" "1i_5i" "0001007119" "00007266" "90" "35" "-768" "35" "-768" "c.35-768A>G" "r.34_35ins35-1177_35-769" "p.Ala12GlyfsTer10" "1i" "0001007120" "00007266" "90" "35" "-1008" "35" "-1008" "c.35-1008T>G" "r.34_35ins35-1177_35-1009" "p.Ala12GlyfsTer10" "1i" "0001007121" "00007266" "90" "1648" "0" "1649" "0" "c.1648_1649del" "r.(?)" "p.(Leu550ValfsTer4)" "" "0001007122" "00007266" "90" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Arg155Gly)" "" "0001007314" "00007266" "70" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Cys)" "5" "0001007339" "00007266" "70" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "11" "0001007358" "00007266" "70" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "" "0001007427" "00007266" "70" "176" "-636" "176" "-636" "c.176-636C>G" "r.175_176ins176-635_176-581" "p.(Gly59ValfsTer54)" "" "0001024900" "00007266" "70" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Thr294Ile)" "" "0001034414" "00007266" "50" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Phe244Ser)" "" "0001034415" "00007266" "50" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001034416" "00007266" "50" "1336" "0" "1336" "0" "c.1336A>C" "r.(?)" "p.(Lys446Gln)" "" "0001046932" "00007266" "90" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "" "0001046933" "00007266" "70" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "" "0001046934" "00007266" "90" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(Ter618GlnextTer13)" "" "0001049161" "00007266" "90" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "0001049165" "00007266" "90" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(Tyr271Cys)" "" "0001049172" "00007266" "90" "1601" "0" "1601" "0" "c.1601C>T" "r.(?)" "p.(Pro534Leu)" "" "0001049174" "00007266" "90" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Leu318Pro)" "" "0001051867" "00007266" "70" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Tyr13Ilefs*7)" "" "0001051868" "00007266" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{variantid}}" "0000035766" "0000062891" "0000035767" "0000062892" "0000035768" "0000062893" "0000035769" "0000062894" "0000035770" "0000062895" "0000035771" "0000062896" "0000035772" "0000062897" "0000035773" "0000062898" "0000035774" "0000062899" "0000035775" "0000062900" "0000035776" "0000062901" "0000035777" "0000062902" "0000035778" "0000062903" "0000035780" "0000062905" "0000035780" "0000081431" "0000035781" "0000062906" "0000051987" "0000081421" "0000051987" "0000081422" "0000051987" "0000081423" "0000051987" "0000081424" "0000181945" "0000405719" "0000181945" "0000405720" "0000182013" "0000405825" "0000232080" "0000474392" "0000264402" "0000594958" "0000264402" "0000594959" "0000266377" "0000597040" "0000266377" "0000597041" "0000294739" "0000651428" "0000296811" "0000653524" "0000302654" "0000665998" "0000302654" "0000665999" "0000315463" "0000697552" "0000433312" "0000918957" "0000455107" "0001007113" "0000455107" "0001007114" "0000455108" "0001007115" "0000455108" "0001007119" "0000455109" "0001007116" "0000455109" "0001007120" "0000455110" "0001007117" "0000455110" "0001007121" "0000455111" "0001007118" "0000455111" "0001007122" "0000455281" "0001007314" "0000455306" "0001007339" "0000455325" "0001007358" "0000455325" "0001007427" "0000469012" "0001049161" "0000469012" "0001049172" "0000469016" "0001049165" "0000469016" "0001049174"