### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX3) # 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}}" "PEX3" "peroxisomal biogenesis factor 3" "6" "q24.2" "unknown" "NG_008459.1" "UD_132118969859" "" "https://www.LOVD.nl/PEX3" "" "1" "8858" "8504" "603164" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX3_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:26:31" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015984" "PEX3" "peroxisomal biogenesis factor 3" "001" "NM_003630.2" "" "NP_003621.1" "" "" "" "-262" "2512" "1122" "143771918" "143811753" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03774" "PBD10A" "peroxisome biogenesis disorder, type 10A (PBD-10A)" "AR" "614882" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" "06699" "PBD10B" "?Peroxisome biogenesis disorder 10B" "AR" "617370" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PEX3" "03774" "PEX3" "06699" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00309914" "" "" "" "1" "" "02015" "{PMID:Muntau 2000:10958759}, {PMID:Shimozawa 2000:10942428}, {PMID:South 2000:10871277}" "" "M" "yes" "Netherlands" "" "0" "" "" "" "PBDG-01/PBD400" "00309915" "" "" "" "1" "" "02015" "{PMID:Muntau 2000:10958759}, {PMID:Ghaedi 2000:10968777}" "" "M" "yes" "Italy" "" "0" "" "" "" "PBDG-02" "00309917" "" "" "" "1" "" "00006" "{PMID:South 2000:10871277}" "" "" "yes" "" "" "0" "" "" "" "PBD401" "00309918" "" "" "" "1" "" "00006" "{PMID:Dursun 2009:20033294}" "" "M" "" "Turkey" "00y00m03d" "0" "" "" "" "patient" "00309919" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309920" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309921" "" "" "" "1" "" "03775" "{PMID:Bjørgo 2017:28673549}" "2-generation family, 2 affected (F, M)" "" "" "Norway" "" "0" "" "" "Iraq" "FamPatIV1/2" "00309922" "" "" "" "1" "" "00006" "{PMID:Maxit 2017:27557811}" "" "M" "" "Argentina" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00309914" "05079" "00309915" "05079" "00309917" "05079" "00309918" "05079" "00309919" "05079" "00309920" "05079" "00309921" "05079" "00309922" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03774, 05079, 06699 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000235229" "05079" "00309914" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" "0000235230" "05079" "00309915" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" "0000235231" "05079" "00309917" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235232" "05079" "00309918" "00006" "Familial, autosomal recessive" "" "see aper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" "0000235233" "05079" "00309919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235234" "05079" "00309920" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" "0000235235" "05079" "00309921" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" "0000235236" "05079" "00309922" "00006" "Familial, autosomal recessive" "09y" "see paper; ..." "" "" "" "" "" "" "" "Zellweger syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311061" "00309914" "1" "02015" "00006" "2006-10-23 19:04:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311062" "00309915" "1" "02015" "00006" "2006-05-05 10:02:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311064" "00309917" "1" "00006" "00006" "2020-09-06 17:18:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311065" "00309918" "1" "00006" "00006" "2020-09-06 17:22:30" "" "" "SEQ" "DNA" "" "" "0000311066" "00309919" "1" "00006" "00006" "2020-09-06 17:24:49" "" "" "SEQ" "DNA" "" "" "0000311067" "00309920" "1" "00006" "00006" "2020-09-06 17:28:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311068" "00309921" "1" "03775" "00006" "2016-03-11 14:29:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311069" "00309922" "1" "00006" "00006" "2020-09-06 17:48:51" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000311061" "PEX3" "0000311062" "PEX3" "0000311064" "PEX3" "0000311065" "PEX3" "0000311066" "PEX3" "0000311067" "PEX3" "0000311068" "PEX3" "0000311069" "PEX3" ## 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 = 21 "{{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}}" "0000249797" "0" "50" "6" "143780270" "143780270" "subst" "4.0618E-6" "02325" "PEX3_000005" "g.143780270A>G" "" "" "" "PEX3(NM_003630.3):c.122A>G (p.Q41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143459133A>G" "" "VUS" "" "0000296910" "0" "10" "6" "143784039" "143784039" "del" "0" "02325" "PEX3_000006" "g.143784039del" "" "" "" "PEX3(NM_003630.3):c.206-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143462902del" "" "benign" "" "0000296911" "0" "10" "6" "143792675" "143792675" "subst" "0.378719" "02325" "PEX3_000007" "g.143792675T>C" "" "" "" "PEX3(NM_003630.3):c.524-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.143471538T>C" "" "benign" "" "0000527366" "0" "30" "6" "143792148" "143792148" "subst" "8.12506E-6" "01804" "PEX3_000008" "g.143792148C>G" "" "" "" "PEX3(NM_003630.2):c.382C>G (p.(Leu128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.143471011C>G" "" "likely benign" "" "0000686239" "3" "90" "6" "143792713" "143792713" "dup" "0" "02015" "PEX3_000001" "g.143792713dup" "" "{PMID:Muntau 2000:10958759}, {PMID:Shimozawa 2000:10942428}, {PMID:South 2000:10871277}" "" "543_544insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686240" "3" "90" "6" "143806281" "143806281" "subst" "0" "02015" "PEX3_000002" "g.143806281T>G" "" "{PMID:Muntau 2000:10958759}, {PMID:Ghaedi 2000:10968777}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686352" "3" "90" "6" "143780305" "143780305" "subst" "8.12315E-6" "00006" "PEX3_000009" "g.143780305C>T" "" "{PMID:South 2000:10871277}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686353" "3" "90" "6" "143800250" "143800250" "subst" "0" "00006" "PEX3_000010" "g.143800250C>T" "" "{PMID:Dursun 2009:20033294}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686354" "3" "90" "6" "143789299" "143789302" "del" "0" "00006" "PEX3_000003" "g.143789299_143789302del" "" "{PMID:Ebberink 2011:21031596}" "" "328_331delATAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000686355" "3" "90" "6" "45937086" "45937279" "del" "0" "00006" "PEX3_000011" "g.45937086_45937279del" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686356" "3" "90" "6" "143784052" "143784052" "subst" "0" "03775" "PEX3_000004" "g.143784052G>T" "" "{PMID:Bjørgo 2017:28673549}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686357" "21" "90" "6" "143800292" "143800292" "subst" "1.22087E-5" "00006" "PEX3_000012" "g.143800292C>T" "" "{PMID:Maxit 2017:27557811}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686358" "11" "90" "6" "143806338" "143806338" "subst" "8.13312E-6" "00006" "PEX3_000013" "g.143806338G>A" "" "{PMID:Maxit 2017:27557811}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720703" "0" "30" "6" "143784096" "143784096" "subst" "8.53201E-5" "01943" "PEX3_000014" "g.143784096A>G" "" "" "" "PEX3(NM_003630.2):c.249A>G (p.Q83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720704" "0" "30" "6" "143792756" "143792756" "subst" "0.000960412" "01943" "PEX3_000015" "g.143792756A>G" "" "" "" "PEX3(NM_003630.2):c.578+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802340" "0" "30" "6" "143792114" "143792114" "subst" "2.43865E-5" "01943" "PEX3_000016" "g.143792114T>C" "" "" "" "PEX3(NM_003630.2):c.348T>C (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851093" "0" "30" "6" "143800311" "143800311" "subst" "0" "01943" "PEX3_000017" "g.143800311T>C" "" "" "" "PEX3(NM_003630.2):c.917T>C (p.L306P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912413" "0" "10" "6" "143792078" "143792078" "subst" "0.26877" "02325" "PEX3_000018" "g.143792078C>G" "" "" "" "PEX3(NM_003630.3):c.332-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912414" "0" "10" "6" "143806276" "143806276" "subst" "0.44581" "02325" "PEX3_000019" "g.143806276A>G" "" "" "" "PEX3(NM_003630.3):c.942-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977012" "0" "50" "6" "143780320" "143780320" "subst" "0" "01804" "PEX3_000020" "g.143780320T>G" "" "" "" "PEX3(NM_003630.3):c.172T>G (p.(Phe58Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035507" "0" "50" "6" "143792537" "143792537" "del" "0" "01804" "PEX3_000021" "g.143792537del" "" "" "" "PEX3(NM_003630.3):c.474del (p.(Asp159Metfs*18))" "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 PEX3 ## Count = 21 "{{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}}" "0000249797" "00015984" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Gln41Arg)" "" "0000296910" "00015984" "10" "206" "-14" "206" "-14" "c.206-14del" "r.(=)" "p.(=)" "" "0000296911" "00015984" "10" "524" "-19" "524" "-19" "c.524-19T>C" "r.(=)" "p.(=)" "" "0000527366" "00015984" "30" "382" "0" "382" "0" "c.382C>G" "r.(?)" "p.(Leu128Val)" "" "0000686239" "00015984" "90" "543" "0" "543" "0" "c.543dup" "r.(?)" "p.(Val182Cysfs*3)" "" "0000686240" "00015984" "90" "942" "-8" "942" "-8" "c.942-8T>G" "r.942_1038del" "p.Ser314fs" "" "0000686352" "00015984" "90" "157" "0" "157" "0" "c.157C>T" "r.157c>u" "p.Arg53*" "" "0000686353" "00015984" "90" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286*)" "" "0000686354" "00015984" "90" "328" "0" "331" "0" "c.328_331del" "r.(?)" "p.(Ile110Valfs*23)" "" "0000686355" "00015984" "90" "334" "0" "393" "0" "c.(334_393del)" "r.334_393del" "p.Phe102_Val131del" "" "0000686356" "00015984" "90" "206" "-1" "206" "-1" "c.206-1G>T" "r.[206_232del,206_287del,206_331del]" "p.[Val69_Arg77del,Val69Glyfs*6,Val69_Ser111delinsGly]" "" "0000686357" "00015984" "90" "898" "0" "898" "0" "c.898C>T" "r.(?)" "p.(Arg300*)" "" "0000686358" "00015984" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Gly331Arg)" "" "0000720703" "00015984" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Gln83=)" "" "0000720704" "00015984" "30" "578" "8" "578" "8" "c.578+8A>G" "r.(=)" "p.(=)" "" "0000802340" "00015984" "30" "348" "0" "348" "0" "c.348T>C" "r.(?)" "p.(Thr116=)" "" "0000851093" "00015984" "30" "917" "0" "917" "0" "c.917T>C" "r.(?)" "p.(Leu306Pro)" "" "0000912413" "00015984" "10" "332" "-20" "332" "-20" "c.332-20C>G" "r.(=)" "p.(=)" "" "0000912414" "00015984" "10" "942" "-13" "942" "-13" "c.942-13A>G" "r.(=)" "p.(=)" "" "0000977012" "00015984" "50" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Phe58Val)" "" "0001035507" "00015984" "50" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Asp159Metfs*18)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000311061" "0000686239" "0000311062" "0000686240" "0000311064" "0000686352" "0000311065" "0000686353" "0000311066" "0000686354" "0000311067" "0000686355" "0000311068" "0000686356" "0000311069" "0000686357" "0000311069" "0000686358"