### LOVD-version 3000-260 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX5) # 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}}" "PEX5" "peroxisomal biogenesis factor 5" "12" "p" "unknown" "NG_008448.1" "UD_132084443846" "" "https://www.LOVD.nl/PEX5" "" "1" "9719" "5830" "600414" "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/PEX5_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-10-22 00:00:00" "00006" "2020-09-10 16:26:56" "00000" "2021-02-08 18:36:18" ## 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}}" "00015985" "PEX5" "transcript variant 2" "005" "NM_000319.4" "" "NP_000310.2" "" "" "" "-16" "3156" "1896" "7342958" "7364079" "" "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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01634" "PBD2B" "peroxisome biogenesis disorder, type 2B (PBD2B)" "AR" "202370" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-07 10:37:47" "01703" "PBD2A" "peroxisome biogenesis disorder, type 2A (PBD2A)" "AR" "214110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-07 10:38:22" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" "05829" "RCDP5" "chondrodysplasia punctata, rhizomelic, type 5 (RCDP5)" "AR" "616716" "" "" "" "00006" "2020-09-07 10:40:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PEX5" "00139" "PEX5" "01634" "PEX5" "01703" "PEX5" "05829" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00274154" "" "" "" "1" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat20" "00290794" "" "" "" "13" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290795" "" "" "" "147" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304379" "" "" "" "3" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309933" "" "" "" "1" "02015" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "" "" "United States" "" "0" "" "" "Middle East" "PBD018/2-05" "00309935" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309936" "" "" "" "1" "02015" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "" "" "" "" "0" "" "" "" "PBD005/2-01" "00309937" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309938" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309939" "" "" "" "1" "02015" "{PMID:Shimozawa 1999:10462504}" "" "" "" "" "" "0" "" "" "" "S-03" "00309941" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309943" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309944" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309945" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309946" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "2 patients" "" "" "" "" "0" "" "" "" "" "00309947" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309948" "" "" "" "1" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00274154" "00198" "00290794" "00198" "00290795" "00198" "00304379" "00198" "00309933" "05079" "00309935" "05079" "00309936" "05079" "00309937" "05079" "00309938" "05079" "00309939" "05079" "00309941" "05079" "00309943" "05079" "00309944" "05079" "00309945" "05079" "00309946" "05079" "00309947" "05079" "00309948" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01634, 01703, 05079, 05829 ## Count = 14 "{{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}}" "0000209099" "00198" "00274154" "00006" "Familial, autosomal recessive" "" "mitochondrial disease criteria score 4" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000235250" "05079" "00309933" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235252" "05079" "00309935" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235253" "05079" "00309936" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235254" "05079" "00309937" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235255" "05079" "00309938" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235256" "05079" "00309939" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235258" "05079" "00309941" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235260" "05079" "00309943" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235261" "05079" "00309944" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235262" "05079" "00309945" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235263" "05079" "00309946" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235264" "05079" "00309947" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235265" "05079" "00309948" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000275309" "00274154" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291962" "00290794" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291963" "00290795" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305508" "00304379" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311081" "00309933" "1" "02015" "00006" "2006-10-22 22:42:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311083" "00309935" "1" "02015" "00006" "2008-09-04 16:31:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311084" "00309936" "1" "02015" "00006" "2006-10-22 23:09:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311085" "00309937" "1" "02015" "00006" "2008-09-04 16:21:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311086" "00309938" "1" "02015" "00006" "2008-09-04 16:34:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311087" "00309939" "1" "02015" "00006" "2008-09-04 17:20:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311089" "00309941" "1" "02015" "00006" "2008-09-04 16:50:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311091" "00309943" "1" "02015" "00006" "2008-09-04 16:54:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311092" "00309944" "1" "02015" "00006" "2008-09-04 16:57:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311093" "00309945" "1" "02015" "00006" "2008-09-04 17:00:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311094" "00309946" "1" "02015" "00006" "2008-09-04 17:03:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311095" "00309947" "1" "02015" "00006" "2008-09-04 17:08:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311096" "00309948" "1" "02015" "00006" "2008-09-04 17:14:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000275309" "PEX5" "0000311081" "PEX5" "0000311083" "PEX5" "0000311084" "PEX5" "0000311085" "PEX5" "0000311086" "PEX5" "0000311087" "PEX5" "0000311089" "PEX5" "0000311091" "PEX5" "0000311092" "PEX5" "0000311093" "PEX5" "0000311094" "PEX5" "0000311095" "PEX5" "0000311096" "PEX5" ## 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 = 45 "{{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}}" "0000254299" "0" "30" "12" "7343153" "7343153" "subst" "0" "01943" "PEX5_000033" "g.7343153A>G" "" "" "" "PEX5(NM_001131023.1):c.180A>G (p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190557A>G" "" "likely benign" "" "0000296912" "0" "50" "12" "7361644" "7361644" "subst" "0.0000203046" "02325" "PEX5_000036" "g.7361644C>T" "" "" "" "PEX5(NM_001131025.1):c.1438C>T (p.R480W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209048C>T" "" "VUS" "" "0000296913" "0" "30" "12" "7362285" "7362285" "subst" "0.0000611726" "02325" "PEX5_000037" "g.7362285T>C" "" "" "" "PEX5(NM_001131025.1):c.1567T>C (p.L523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209689T>C" "" "likely benign" "" "0000305492" "0" "10" "12" "7343197" "7343241" "del" "0" "01943" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "benign" "" "0000305493" "0" "30" "12" "7362425" "7362425" "subst" "0.000150268" "01943" "PEX5_000038" "g.7362425C>T" "" "" "" "PEX5(NM_001131025.1):c.1707C>T (p.L569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209829C>T" "" "likely benign" "" "0000322660" "0" "50" "12" "7343088" "7343088" "subst" "0" "01804" "PEX5_000014" "g.7343088C>G" "" "" "" "PEX5(NM_000319.4):c.115C>G (p.(Pro39Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190492C>G" "" "VUS" "" "0000322661" "0" "30" "12" "7343197" "7343241" "del" "0" "01804" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "likely benign" "" "0000322664" "0" "30" "12" "7354399" "7354399" "subst" "0.00214435" "01804" "PEX5_000035" "g.7354399G>C" "" "" "" "PEX5(NM_000319.4):c.604G>C (p.(Val202Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7201803G>C" "" "likely benign" "" "0000322665" "0" "50" "12" "7362622" "7362622" "subst" "0" "01804" "PEX5_000039" "g.7362622G>A" "" "" "" "PEX5(NM_000319.4):c.1699G>A (p.(Ala567Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7210026G>A" "" "VUS" "" "0000322666" "0" "50" "12" "7362839" "7362839" "subst" "0.00143917" "01804" "PEX5_000040" "g.7362839G>C" "" "" "" "PEX5(NM_000319.4):c.*20G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7210243G>C" "" "VUS" "" "0000351357" "0" "10" "12" "7343197" "7343241" "del" "0" "02327" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "benign" "" "0000351358" "0" "10" "12" "7343153" "7343153" "subst" "0" "02327" "PEX5_000033" "g.7343153A>G" "" "" "" "PEX5(NM_001131023.1):c.180A>G (p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190557A>G" "" "benign" "" "0000549131" "0" "90" "12" "7343876" "7343876" "subst" "0" "01943" "PEX5_000042" "g.7343876C>T" "" "" "" "PEX5(NM_001131025.1):c.238C>T (p.Q80*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7191280C>T" "" "pathogenic" "" "0000549134" "0" "50" "12" "7361266" "7361266" "subst" "0" "01804" "PEX5_000045" "g.7361266G>A" "" "" "" "PEX5(NM_000319.4):c.1370+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7208670G>A" "" "VUS" "" "0000549135" "0" "90" "12" "7361270" "7361270" "subst" "0" "02329" "PEX5_000046" "g.7361270G>A" "" "" "" "PEX5(NM_001131025.1):c.1394+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7208674G>A" "" "pathogenic" "" "0000549136" "0" "30" "12" "7361645" "7361645" "subst" "0.000190858" "01804" "PEX5_000047" "g.7361645G>A" "" "" "" "PEX5(NM_000319.4):c.1415G>A (p.(Arg472Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7209049G>A" "" "likely benign" "" "0000549138" "0" "50" "12" "7362628" "7362628" "subst" "0" "01943" "PEX5_000049" "g.7362628G>T" "" "" "" "PEX5(NM_001131025.1):c.1729G>T (p.E577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210032G>T" "" "VUS" "" "0000549139" "0" "50" "12" "7362713" "7362713" "subst" "0.000560729" "02325" "PEX5_000020" "g.7362713G>A" "" "" "" "PEX5(NM_001131025.1):c.1814G>A (p.S605N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210117G>A" "" "VUS" "" "0000614378" "0" "70" "12" "7354903" "7354903" "subst" "0.0000121837" "01943" "PEX5_000022" "g.7354903C>T" "" "" "" "PEX5(NM_001131025.1):c.709C>T (p.R237*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7202307C>T" "" "likely pathogenic" "" "0000614379" "0" "50" "12" "7362721" "7362721" "subst" "0.0000243768" "01804" "PEX5_000024" "g.7362721C>T" "" "" "" "PEX5(NM_000319.4):c.1798C>T (p.(Arg600Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210125C>T" "" "VUS" "" "0000622971" "0" "50" "12" "7343091" "7343091" "subst" "0" "02325" "PEX5_000021" "g.7343091T>G" "" "" "" "PEX5(NM_001131025.1):c.118T>G (p.W40G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7190495T>G" "" "VUS" "" "0000622972" "0" "30" "12" "7355204" "7355204" "subst" "0.000381714" "02325" "PEX5_000023" "g.7355204G>A" "" "" "" "PEX5(NM_001131025.1):c.754-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7202608G>A" "" "likely benign" "" "0000629273" "21" "90" "12" "7362387" "7362387" "subst" "0.0000081217" "00006" "PEX5_000025" "g.7362387C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001131025.1:c.1669C>T" "low genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.7209791C>T" "" "pathogenic (recessive)" "" "0000629339" "11" "90" "12" "7362698" "7362698" "subst" "0.00000406326" "00006" "PEX5_000026" "g.7362698C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001131025.1:c.1799C>T" "" "Germline" "" "" "0" "" "" "g.7210102C>T" "" "pathogenic (recessive)" "" "0000648651" "1" "50" "12" "7351610" "7351610" "subst" "0.0000934198" "03575" "PEX5_000027" "g.7351610C>G" "13/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs200720523}" "Germline" "" "rs200720523" "0" "" "" "g.7199014C>G" "" "VUS" "" "0000648652" "1" "10" "12" "7361287" "7361287" "subst" "0.0211876" "03575" "PEX5_000028" "g.7361287G>A" "147/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "147 heterozygous; {DB:CLININrs73051959}" "Germline" "" "rs73051959" "0" "" "" "g.7208691G>A" "" "benign" "" "0000669196" "3" "10" "12" "7361287" "7361287" "subst" "0.0211876" "03575" "PEX5_000028" "g.7361287G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs73051959}" "Germline" "" "rs73051959" "0" "" "" "g.7208691G>A" "" "benign" "" "0000679644" "0" "30" "12" "7361754" "7361754" "subst" "0.000251824" "01943" "PEX5_000029" "g.7361754C>T" "" "" "" "PEX5(NM_001131025.1):c.1548C>T (p.S516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679645" "0" "30" "12" "7362670" "7362670" "subst" "0.00000406369" "01943" "PEX5_000030" "g.7362670G>A" "" "" "" "PEX5(NM_001131025.1):c.1771G>A (p.G591S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679646" "0" "30" "12" "7362773" "7362773" "subst" "0.0000243748" "01804" "PEX5_000031" "g.7362773C>T" "" "" "" "PEX5(NM_000319.4):c.1850C>T (p.(Ala617Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686369" "3" "90" "12" "7362296" "7362296" "subst" "0" "02015" "PEX5_000002" "g.7362296T>G" "" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "1467T>G (Asn489Lys)" "" "Germline" "" "rs61752138" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686371" "3" "90" "12" "7362296" "7362296" "subst" "0" "02015" "PEX5_000002" "g.7362296T>G" "" "{PMID:Ebberink 2008:18712838}" "" "1578T>G (N526K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686372" "3" "90" "12" "7361150" "7361150" "subst" "0.0000162504" "02015" "PEX5_000003" "g.7361150C>T" "" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "1168C>T (R390X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686373" "1" "90" "12" "7361115" "7361115" "subst" "0.00000406233" "02015" "PEX5_000004" "g.7361115A>G" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C] (N415S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000686374" "3" "90" "12" "7362698" "7362698" "subst" "0" "02015" "PEX5_000005" "g.7362698C>G" "" "{PMID:Ebberink 2008:18712838}" "" "1799C>G (S600W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686375" "3" "90" "12" "7362698" "7362698" "subst" "0" "02015" "PEX5_000005" "g.7362698C>G" "" "{PMID:Shimozawa 1999:10462504}" "" "1799C>G (S600W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686377" "3" "90" "12" "7361270" "7361270" "subst" "0" "02015" "PEX5_000007" "g.7361270G>A" "" "{PMID:Ebberink 2008:18712838}" "" "1394+5G>A R394S r.395_465del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686379" "3" "90" "12" "7362387" "7362387" "subst" "0.0000081217" "02015" "PEX5_000008" "g.7362387C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1669C>T (R557W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686380" "3" "90" "12" "7355280" "7355280" "subst" "0.00000406072" "02015" "PEX5_000009" "g.7355280C>T" "" "{PMID:Ebberink 2008:18712838}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686381" "3" "90" "12" "7360378" "7360378" "subst" "0" "02015" "PEX5_000010" "g.7360378C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1090C>T (Q364X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686382" "3" "90" "12" "7361129" "7361129" "subst" "0.00000812466" "02015" "PEX5_000011" "g.7361129C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1258C>T (R420X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686383" "1" "90" "12" "7351706" "7354292" "delins" "0" "02015" "PEX5_000012" "g.7351706_7354292delins(238)inv" "" "{PMID:Ebberink 2008:18712838}" "" "548_552-55delins238inv" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686384" "3" "90" "12" "7362277" "7362277" "subst" "0" "02015" "PEX5_000013" "g.7362277A>C" "" "{PMID:Ebberink 2008:18712838}" "" "1561-2A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686389" "2" "90" "12" "7351703" "7351706" "dup" "0" "00006" "PEX5_000006" "g.7351703_7351706dup" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686390" "2" "50" "12" "7354399" "7354399" "subst" "0.00214435" "00006" "PEX5_000035" "g.7354399G>C" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C]" "" "Germline" "" "" "0" "" "" "" "" "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 PEX5 ## Count = 45 "{{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}}" "0000254299" "00015985" "30" "147" "33" "147" "33" "c.147+33A>G" "r.(=)" "p.(=)" "" "0000296912" "00015985" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Trp)" "" "0000296913" "00015985" "30" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Leu515=)" "" "0000305492" "00015985" "10" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000305493" "00015985" "30" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Leu561=)" "" "0000322660" "00015985" "50" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(Pro39Ala)" "" "0000322661" "00015985" "30" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000322664" "00015985" "30" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0000322665" "00015985" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Ala567Thr)" "" "0000322666" "00015985" "50" "1916" "0" "1916" "0" "c.*20G>C" "r.(=)" "p.(=)" "" "0000351357" "00015985" "10" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000351358" "00015985" "10" "147" "33" "147" "33" "c.147+33A>G" "r.(=)" "p.(=)" "" "0000549131" "00015985" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" "" "0000549134" "00015985" "50" "1370" "1" "1370" "1" "c.1370+1G>A" "r.spl?" "p.?" "" "0000549135" "00015985" "90" "1370" "5" "1370" "5" "c.1370+5G>A" "r.spl?" "p.?" "" "0000549136" "00015985" "30" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Arg472Gln)" "" "0000549138" "00015985" "50" "1705" "0" "1705" "0" "c.1705G>T" "r.(?)" "p.(Glu569Ter)" "" "0000549139" "00015985" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Ser597Asn)" "" "0000614378" "00015985" "70" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Ter)" "" "0000614379" "00015985" "50" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "" "0000622971" "00015985" "50" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Trp40Gly)" "" "0000622972" "00015985" "30" "754" "-4" "754" "-4" "c.754-4G>A" "r.spl?" "p.?" "" "0000629273" "00015985" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "" "0000629339" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ser592Leu)" "" "0000648651" "00015985" "50" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0000648652" "00015985" "10" "1370" "22" "1370" "22" "c.1370+22G>A" "r.(=)" "p.(=)" "" "0000669196" "00015985" "10" "1370" "22" "1370" "22" "c.1370+22G>A" "r.(=)" "p.(=)" "" "0000679644" "00015985" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Ser508=)" "" "0000679645" "00015985" "30" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Gly583Ser)" "" "0000679646" "00015985" "30" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ala617Val)" "" "0000686369" "00015985" "90" "1554" "0" "1554" "0" "c.1554T>G" "r.1554u>g" "p.Asn518Lys" "14" "0000686371" "00015985" "90" "1554" "0" "1554" "0" "c.1554T>G" "r.(?)" "p.(Asn518Lys)" "14" "0000686372" "00015985" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.1255c>u" "p.Arg419*" "12" "0000686373" "00015985" "90" "1220" "0" "1220" "0" "c.1220A>G" "r.(?)" "p.(Asn407Ser)" "11" "0000686374" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>G" "r.(?)" "p.(Ser592Trp)" "15" "0000686375" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>G" "r.(?)" "p.(Ser592Trp)" "15" "0000686377" "00015985" "90" "1370" "5" "1370" "5" "c.1370+5G>A" "r.spl" "p.?" "12" "0000686379" "00015985" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "14" "0000686380" "00015985" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "7" "0000686381" "00015985" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "10" "0000686382" "00015985" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "12" "0000686383" "00015985" "90" "548" "0" "552" "-55" "c.548_552-55delins(238)inv" "r.?" "p.?" "5" "0000686384" "00015985" "90" "1537" "-2" "1537" "-2" "c.1537-2A>C" "r.[1537_1694del,1537_1561del]" "p.?" "14" "0000686389" "00015985" "90" "545" "0" "548" "0" "c.545_548dup" "r.(?)" "p.(Trp184Serfs*4)" "" "0000686390" "00015985" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000275309" "0000629273" "0000275309" "0000629339" "0000291962" "0000648651" "0000291963" "0000648652" "0000305508" "0000669196" "0000311081" "0000686369" "0000311083" "0000686371" "0000311084" "0000686372" "0000311085" "0000686373" "0000311085" "0000686389" "0000311085" "0000686390" "0000311086" "0000686374" "0000311087" "0000686375" "0000311089" "0000686377" "0000311091" "0000686379" "0000311092" "0000686380" "0000311093" "0000686381" "0000311094" "0000686382" "0000311095" "0000686383" "0000311096" "0000686384"