### 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" "00006" "2026-08-03 15:19:31" ## 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 = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "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 disease" "metabolic disease" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-02-16 15:43:43" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" "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 = 65 "{{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" "00472944" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam302075Pat41" "00472995" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9811943Pat92" "00473031" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "no" "Iran" "" "0" "" "" "" "Fam8641Pat141" "00473043" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam9988Pat154" "00473133" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam101189Pat267" "00473148" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam102740Pat292" "00473223" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam110378Pat414" "00473246" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam112242Pat450" "00473303" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam202769Pat541" "00473317" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam203315Pat557" "00473440" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam210973Pat752" "00473819" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9705416Pat1292" "00473827" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9706965Pat1301" "00478382" "" "" "" "1" "" "00006" "{PMID:Zaganas 2020:33304817}" "patient" "F" "" "Greece" "" "0" "" "" "" "Pat8" "00482635" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482636" "" "" "" "2" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482637" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482638" "" "" "" "5" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482639" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482640" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482641" "" "" "" "3" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482642" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482643" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482644" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482645" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482646" "" "" "" "13" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482647" "" "" "" "2" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482648" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" "00482649" "" "" "" "1" "" "00006" "{PMID:Liu 2026:41932824}" "carrier screening 3748 individuals (2087F, 1661M)" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{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" "00472944" "00244" "00472995" "00244" "00473031" "00244" "00473043" "05384" "00473133" "00244" "00473148" "00198" "00473223" "00244" "00473246" "00244" "00473303" "00244" "00473317" "00244" "00473440" "00244" "00473819" "05126" "00473827" "00244" "00478382" "00244" "00482635" "00000" "00482636" "00000" "00482637" "00000" "00482638" "00000" "00482639" "00000" "00482640" "00000" "00482641" "00000" "00482642" "00000" "00482643" "00000" "00482644" "00000" "00482645" "00000" "00482646" "00000" "00482647" "00000" "00482648" "00000" "00482649" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 01816, 02087, 02554, 05126, 05384, 05611 ## Count = 40 "{{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/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" "" "0000357739" "00244" "00472944" "00006" "Familial, autosomal recessive" "42y" "Sporadic case onset 20y old with lower and upper muscle weakness, facial and bulbar muscle weakness, normal CPK, irritable myopathy reported in EDX, lipid storage myopathy reported in muscle biopsy." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000357790" "00244" "00472995" "00006" "Familial, autosomal recessive" "33y" "onset since 6-mo ago with weakness extended to lower limbs; Difficulty walking, running & climbing steps; Upper limbs weakness; Proximal & distal muscle weakness, leg>arm; Abnormal gait; Mild prominent calves; CPK ranges from 63 to 1210; EMG-NCV: myopathy; Muscle biopsy: suggestive of lipid storage disease." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000357826" "00244" "00473031" "00006" "Familial, autosomal recessive" "45y" "onset 7y, Difficulty walking & running; Lower muscle weakness & pain (distal); Abnormality of gait; Waddling gait; Lordosis; EMG-NCV: myopathic pattern; MRI of left leg: fatty atrophy in gastrocnemius muscle, unilateral; Elevated CPK, LDH & Aldolase." "" "" "" "" "" "" "" "" "mitochondrial myopathy" "" "0000357838" "05384" "00473043" "00006" "Unknown" "36y" "onset since 8-month ago with muscle weakness, proximal, progressive; Wheelchair bound since 2-month ago; Dysphagia since 2-month ago; Speech problem (Dysphonia); Hand tremor & paresis; Swallowing difficulty; Myopia; Generalized muscle weakness & atrophy; Muscle pain; Elevated level of CPK; EMG-NCV: mild sensory polyneuropathy; Muscle biopsy: suggestive of lipid storage myopathy." "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000357928" "00244" "00473133" "00006" "Familial, autosomal recessive" "30y" "onset 22y with morning stiffness; Generalized muscle weakness, mainly episodic attacks with head drop; Difficulty walking, running, climbing steps; Muscle cramps; Respiratory problem, dyspnea; Dysphagia; Weight loss; EMG-NCV: chronic myogenic changes; Bone density test: osteopenia; Muscle biopsy: suggestive of inflammatory myopathy like necrotizing autoimmune myopathy." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000357943" "00198" "00473148" "00006" "Unknown" "23y" "onset 20y , consanguineous parents, progressive facial and limb muscle weakness, hypotonia, unstable gait, poor head control ( neck muscle weakness and pain), dysphagia, myopathy reported in EMG , normal endoscopy, CPK:1519U/L, LDH,1928U/L, SGOT:101U/L,SGOT147U/L, Mild TR reported in echocardiography." "" "" "" "" "" "" "" "" "lipid storage disease" "" "0000358018" "00244" "00473223" "00006" "Familial, autosomal recessive" "22y" "onset 18y , muscle pain, easily fatigability, head drop, nausea, responsive to riboflavin ( vitamin B2) , elevated CPK,chronic myopathy reported in EMG , non singificant muscle fiber changes but increasing lipid content reported in muscle biopsy, elevated liver enzymes,negative for Pompe disease." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000358041" "00244" "00473246" "00006" "Familial, autosomal recessive" "19y" "onset 14y with lower muscle weakness & wasting; Upper & lower muscle weakness, proximal; Muscle pain in lower limbs; Difficulty climbing steps; Nasal speech; Head drop." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000358098" "00244" "00473303" "00006" "Familial, autosomal recessive" "66y" "Muscle weakness, lower>upper limb, since 7-8y , Mild lower & upper muscle weakness, proximal > distal; Elevated SGOT, SGPT, CPK & LDH; EMG-NCV: proximal>distal polymyopathy with mild irritative feature." "" "" "" "" "" "" "" "" "myopathy" "" "0000358112" "00244" "00473317" "00006" "Familial, autosomal recessive" "40y" "multiple affected individuals, proximal lower and upper muscle weakness and pain started 9 months earlier, , positive Gower\'s sign, walking, climbing and running difficulty, poly myopathy reported in EMG, elevated CPK, negative IHC for all examined anti bodies." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000358235" "00244" "00473440" "00006" "Familial, autosomal recessive" "28y" "10y with easyfatigability , walking difficulty, elevated CPK,ALT and AST." "" "" "" "" "" "" "" "" "myopathy" "" "0000358614" "05126" "00473819" "00006" "Familial, autosomal recessive" "35y" "onset with generalized muscle weakness, episodic; Proximal and distal muscle weakness, legs>arms; Generalized muscle wasting; Abnormal gait; Difficulty walking, running & climbing steps; Respiratory problem; Scapular winging; Problems with chewing and swallowing; Nasal speech; Lordosis; EMG-NCV: myopathic pattern; Heart echo: mild MR & TR. Normal MRI of leg; MRI of Rt femur: AVN in Rt femoral head" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000358622" "00244" "00473827" "00006" "Familial, autosomal recessive" "26y" "onset 11y with muscle weakness attack; Difficulty walking; running, climbing steps and rising from seated position; Neck muscle weakness; Generalized muscle weakness & wasting; Proximal & distal muscle weakness, legs>arms; Thin build; Long face; Facial muscle atrophy; Tremor in hands, mild; Foot drop, mild; Abnormal gait; Pneumonia; Difficulty swallowing and chewing; Rhabdomyolysis; EMG-NCV: myopathic process." "" "" "" "" "" "" "" "" "metabolic myopathy" "" "0000362899" "00244" "00478382" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., lower extremity weakness, easy fatigability; myopathy; muscle biopsy lipid myopathy" "2y" "" "" "" "" "" "" "MADD" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 65 "{{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" "0000474613" "00472944" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474664" "00472995" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474700" "00473031" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474712" "00473043" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474802" "00473133" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474817" "00473148" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474892" "00473223" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474915" "00473246" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474972" "00473303" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474986" "00473317" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475109" "00473440" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475488" "00473819" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475496" "00473827" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480029" "00478382" "1" "00006" "00006" "2026-05-05 14:52:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000484283" "00482635" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484284" "00482636" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484285" "00482637" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484286" "00482638" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484287" "00482639" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484288" "00482640" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484289" "00482641" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484290" "00482642" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484291" "00482643" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484292" "00482644" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484293" "00482645" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484294" "00482646" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484295" "00482647" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484296" "00482648" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" "0000484297" "00482649" "1" "00006" "00006" "2026-08-03 15:06:46" "" "" "SEQ;SEQ-NG" "DNA" "" "334-gene panel" ## 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 = 118 "{{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" "" "0001064274" "0" "90" "4" "159601663" "159601663" "subst" "4.06428E-6" "02325" "ETFDH_000034" "g.159601663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001069011" "1" "90" "4" "159603560" "159603560" "subst" "8.12341E-6" "00006" "ETFDH_000080" "g.159603560A>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PP2, PP3mod, PM3Strong, PM2" "Germline" "" "" "0" "" "" "g.158682408A>T" "SCV006074924" "pathogenic" "ACMG" "0001069062" "1" "70" "4" "159620278" "159620278" "subst" "0" "00006" "ETFDH_000083" "g.159620278T>G" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PM3_sup, PP2, PP3" "Germline" "" "" "0" "" "" "g.158699126T>G" "SCV001755362" "likely pathogenic" "ACMG" "0001069098" "3" "70" "4" "159624588" "159624588" "subst" "4.06336E-6" "00006" "ETFDH_000045" "g.159624588T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PP5, PS1" "Germline" "" "" "0" "" "" "g.158703436T>C" "SCV001755408" "likely pathogenic" "ACMG" "0001069110" "0" "70" "4" "159601756" "159601756" "dup" "0" "00006" "ETFDH_000079" "g.159601756dup" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.158680604dup" "SCV006074922" "likely pathogenic" "ACMG" "0001069200" "3" "70" "4" "159624588" "159624588" "subst" "4.06336E-6" "00006" "ETFDH_000045" "g.159624588T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3, PP5" "Germline" "" "" "0" "" "" "g.158703436T>C" "SCV001755408" "likely pathogenic" "ACMG" "0001069215" "3" "50" "4" "159618721" "159618721" "subst" "0" "00006" "ETFDH_000082" "g.159618721T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2-PP3" "Germline" "" "" "0" "" "" "g.158697569T>C" "SCV006074926" "VUS" "ACMG" "0001069290" "3" "90" "4" "159624588" "159624588" "subst" "4.06336E-6" "00006" "ETFDH_000045" "g.159624588T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2-PP2-PP3-PP5" "Germline" "" "" "0" "" "" "g.158703436T>C" "SCV001755408" "pathogenic" "ACMG" "0001069313" "3" "70" "4" "159629524" "159629524" "subst" "0" "00006" "ETFDH_000085" "g.159629524G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP3_str, PM2, PP2" "Germline" "" "" "0" "" "" "g.158708372G>A" "SCV006074927" "likely pathogenic" "ACMG" "0001069370" "3" "70" "4" "159627421" "159627421" "subst" "4.06293E-6" "00006" "ETFDH_000084" "g.159627421C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3, PM5, PM1, PM3" "Germline" "" "" "0" "" "" "g.158706269C>T" "SCV006075021" "likely pathogenic" "ACMG" "0001069384" "3" "90" "4" "159627421" "159627421" "subst" "4.06293E-6" "00006" "ETFDH_000084" "g.159627421C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM3, PM2, PP3, PM5" "Germline" "" "" "0" "" "" "g.158706269C>T" "SCV006075021" "pathogenic" "ACMG" "0001069505" "3" "70" "4" "159601663" "159601663" "subst" "4.06428E-6" "00006" "ETFDH_000034" "g.159601663C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM3_mo, PM2_mo, PP2_su, PP5" "Germline" "" "" "0" "" "" "g.158680511C>T" "SCV006074921" "likely pathogenic" "ACMG" "0001069882" "3" "70" "4" "159624588" "159624588" "subst" "4.06336E-6" "00006" "ETFDH_000045" "g.159624588T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.158703436T>C" "SCV001755408" "likely pathogenic" "ACMG" "0001069890" "3" "70" "4" "159624588" "159624588" "subst" "4.06336E-6" "00006" "ETFDH_000045" "g.159624588T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.158703436T>C" "SCV001755408" "likely pathogenic" "ACMG" "0001070095" "0" "70" "4" "159616778" "159616778" "subst" "4.06382E-6" "00006" "ETFDH_000081" "g.159616778G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PP2, PP3mod, PM3, PM2" "Germline" "" "" "0" "" "" "g.158695626G>A" "SCV006074925" "likely pathogenic" "ACMG" "0001070146" "0" "90" "4" "159601705" "159601705" "subst" "0" "00006" "ETFDH_000064" "g.159601705C>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.158680553C>T" "SCV001755363" "pathogenic" "ACMG" "0001076043" "1" "90" "4" "159627503" "159627503" "subst" "2.43823E-5" "00006" "ETFDH_000046" "g.159627503C>T" "" "{PMID:Zaganas 2020:33304817}" "" "" "ACMG PS4, PM2, PM3, PP3, PP5" "Germline" "" "rs377656387" "0" "" "" "g.158706351C>T" "" "pathogenic (recessive)" "" "0001076056" "2" "90" "4" "159627987" "159627987" "subst" "0" "00006" "ETFDH_000047" "g.159627987C>T" "" "{PMID:Zaganas 2020:33304817}" "" "" "ACMG PVS1, PS4, PM2" "Germline" "" "rs186023896" "0" "" "" "g.158706835C>T" "" "pathogenic (recessive)" "" "0001082002" "1" "70" "4" "159624669" "159624669" "subst" "4.06405E-6" "00006" "chr4_005218" "g.159624669T>C" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158703517T>C" "" "likely pathogenic" "" "0001082003" "1" "70" "4" "159624685" "159624685" "subst" "0" "00006" "ETFDH_000051" "g.159624685A>C" "2/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158703533A>C" "" "likely pathogenic" "" "0001082004" "1" "70" "4" "159627410" "159627410" "del" "0" "00006" "chr4_005219" "g.159627410del" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "1355delG" "" "Germline" "" "" "0" "" "" "g.158706258del" "" "likely pathogenic" "" "0001082005" "1" "70" "4" "159601736" "159601736" "subst" "8.12618E-5" "00006" "ETFDH_000057" "g.159601736G>A" "5/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158680584G>A" "" "likely pathogenic" "" "0001082006" "1" "70" "4" "159627969" "159627969" "subst" "0.000130141" "00006" "chr4_005220" "g.159627969T>C" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158706817T>C" "" "likely pathogenic" "" "0001082007" "1" "70" "4" "159603524" "159603524" "subst" "4.06098E-6" "00006" "chr4_005221" "g.159603524G>T" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158682372G>T" "" "likely pathogenic" "" "0001082008" "1" "70" "4" "159603560" "159603560" "subst" "8.12341E-6" "00006" "ETFDH_000080" "g.159603560A>T" "3/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158682408A>T" "" "likely pathogenic" "" "0001082009" "1" "70" "4" "159603577" "159603577" "subst" "0" "00006" "chr4_005222" "g.159603577G>A" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158682425G>A" "" "likely pathogenic" "" "0001082010" "1" "70" "4" "159606289" "159606289" "subst" "4.06286E-6" "00006" "chr4_005223" "g.159606289G>T" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158685137G>T" "" "likely pathogenic" "" "0001082011" "1" "70" "4" "159611499" "159611499" "subst" "8.12645E-6" "00006" "chr4_005224" "g.159611499G>A" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158690347G>A" "" "likely pathogenic" "" "0001082012" "1" "70" "4" "159616684" "159616684" "del" "0" "00006" "chr4_005225" "g.159616684del" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "720delA" "" "Germline" "" "" "0" "" "" "g.158695532del" "" "likely pathogenic" "" "0001082013" "1" "70" "4" "159616734" "159616734" "subst" "0.000101584" "00006" "chr4_005226" "g.159616734A>G" "13/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158695582A>G" "" "likely pathogenic" "" "0001082014" "1" "70" "4" "159618799" "159618799" "subst" "0" "00006" "ETFDH_000020" "g.159618799C>G" "2/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158697647C>G" "" "likely pathogenic" "" "0001082015" "1" "70" "4" "159618838" "159618838" "subst" "1.21878E-5" "00006" "chr4_005227" "g.159618838C>T" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158697686C>T" "" "likely pathogenic" "" "0001082016" "1" "70" "4" "159620164" "159620164" "subst" "2.84379E-5" "00006" "chr4_005228" "g.159620164A>G" "1/7496 chromosomes" "{PMID:Liu 2026:41932824}" "" "" "" "Germline" "" "" "0" "" "" "g.158699012A>G" "" "likely pathogenic" "" ## 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 = 118 "{{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)" "" "0001064274" "00007266" "90" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0001069011" "00007266" "90" "389" "0" "389" "0" "c.389A>T" "r.(?)" "p.(Asp130Val)" "" "0001069062" "00007266" "70" "1112" "0" "1112" "0" "c.1112T>G" "r.(?)" "p.(Phe371Cys)" "" "0001069098" "00007266" "70" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0001069110" "00007266" "70" "172" "0" "172" "0" "c.172dup" "r.(?)" "p.(Glu58GlyfsTer38)" "" "0001069200" "00007266" "70" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0001069215" "00007266" "50" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Ile281Thr)" "" "0001069290" "00007266" "90" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0001069313" "00007266" "70" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Glu567Lys)" "" "0001069370" "00007266" "70" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Pro456Ser)" "" "0001069384" "00007266" "90" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Pro456Ser)" "" "0001069505" "00007266" "70" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Pro27Ser)" "" "0001069882" "00007266" "70" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0001069890" "00007266" "70" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Leu377Pro)" "" "0001070095" "00007266" "70" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Gly272Arg)" "" "0001070146" "00007266" "90" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41Ter)" "" "0001076043" "00007266" "90" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Pro483Leu)" "" "0001076056" "00007266" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Ter)" "" "0001082002" "00007266" "70" "1211" "0" "1211" "0" "c.1211T>C" "r.(?)" "p.(Met404Thr)" "10" "0001082003" "00007266" "70" "1227" "0" "1227" "0" "c.1227A>C" "r.(?)" "p.(Leu409Phe)" "10" "0001082004" "00007266" "70" "1355" "0" "1355" "0" "c.1355del" "r.(?)" "p.(Arg452LysfsTer3)" "11" "0001082005" "00007266" "70" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "2" "0001082006" "00007266" "70" "1657" "0" "1657" "0" "c.1657T>C" "r.(?)" "p.(Tyr553His)" "12" "0001082007" "00007266" "70" "353" "0" "353" "0" "c.353G>T" "r.(?)" "p.(Cys118Phe)" "3" "0001082008" "00007266" "70" "389" "0" "389" "0" "c.389A>T" "r.(?)" "p.(Asp130Val)" "3" "0001082009" "00007266" "70" "405" "1" "405" "1" "c.405+1G>A" "r.spl" "p.?" "" "0001082010" "00007266" "70" "524" "0" "524" "0" "c.524G>T" "r.(?)" "p.(Arg175Leu)" "5" "0001082011" "00007266" "70" "607" "-1" "607" "-1" "c.607-1G>A" "r.spl" "p.?" "" "0001082012" "00007266" "70" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Val241SerfsTer12)" "7" "0001082013" "00007266" "70" "770" "0" "770" "0" "c.770A>G" "r.(?)" "p.(Tyr257Cys)" "7" "0001082014" "00007266" "70" "920" "0" "920" "0" "c.920C>G" "r.(?)" "p.(Ser307Cys)" "8" "0001082015" "00007266" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ala320Val)" "8" "0001082016" "00007266" "70" "998" "0" "998" "0" "c.998A>G" "r.(?)" "p.(Tyr333Cys)" "9" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 84 "{{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" "0000474613" "0001069011" "0000474613" "0001070095" "0000474664" "0001069062" "0000474664" "0001070146" "0000474700" "0001069098" "0000474712" "0001069110" "0000474802" "0001069200" "0000474817" "0001069215" "0000474892" "0001069290" "0000474915" "0001069313" "0000474972" "0001069370" "0000474986" "0001069384" "0000475109" "0001069505" "0000475488" "0001069882" "0000475496" "0001069890" "0000480029" "0001076043" "0000480029" "0001076056" "0000484283" "0001082002" "0000484284" "0001082003" "0000484285" "0001082004" "0000484286" "0001082005" "0000484287" "0001082006" "0000484288" "0001082007" "0000484289" "0001082008" "0000484290" "0001082009" "0000484291" "0001082010" "0000484292" "0001082011" "0000484293" "0001082012" "0000484294" "0001082013" "0000484295" "0001082014" "0000484296" "0001082015" "0000484297" "0001082016"