### LOVD-version 3000-250 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX12) # 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}}" "{{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}}" "PEX12" "peroxisomal biogenesis factor 12" "17" "q21.1" "unknown" "NG_008447.1" "UD_132119066609" "" "https://www.LOVD.nl/PEX12" "" "1" "8854" "5193" "601758" "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/PEX12_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-07 00:00:00" "00006" "2020-09-10 16:28:22" "00006" "2020-09-13 10:09:16" ## 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}}" "00015993" "PEX12" "peroxisomal biogenesis factor 12" "001" "NM_000286.2" "" "NP_000277.1" "" "" "" "-616" "2067" "1080" "33905656" "33901814" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "02049" "PDB-3B" "peroxisome biogenesis disorder, type 3B (PBD-3B, Refsum’s disease)" "" "266510" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "03755" "PBD-3A" "peroxisome biogenesis disorder, type 3A (PBD-3A)" "" "614859" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PEX12" "02049" "PEX12" "03755" ## Individuals ## Do not remove or alter this header ## ## Count = 57 "{{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}}" "00291679" "" "" "" "1" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291680" "" "" "" "3" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310057" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310058" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310059" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310060" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310061" "" "" "" "1" "02015" "{PMID:Chang 1997:9090384}, {PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBD097" "00310062" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310063" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBB098" "00310064" "" "" "" "1" "02015" "{PMID:Gootjes 2003:14571262}" "" "" "" "" "" "0" "" "" "" "PEX12-03" "00310065" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310066" "" "" "" "1" "02015" "{PMID:Gootjes 2003:14571262}" "" "" "" "" "" "0" "" "" "" "PEX12-01" "00310067" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "Turkey" "" "0" "" "" "" "" "00310068" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "" "" "0" "" "" "" "Pat1" "00310069" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "Turkey" "" "0" "" "" "" "Pat2" "00310070" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "" "" "0" "" "" "" "Pat3" "00310071" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "Turkey" "" "0" "" "" "" "Pat4" "00310072" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "Turkey" "" "0" "" "" "" "Pat5" "00310073" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "" "" "0" "" "" "" "Pat6" "00310074" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "Turkey" "" "0" "" "" "" "Pat7" "00310075" "" "" "" "1" "02015" "{PMID:Gootjes 2004:15241794}" "" "" "" "Turkey" "" "0" "" "" "" "Pat8" "00310076" "" "" "" "1" "02015" "{PMID:Chang 1999:10562279}" "" "" "" "" "" "0" "" "" "" "PBD054" "00310077" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBB006" "00310078" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBD099" "00310080" "" "" "" "1" "02015" "{PMID:Okumoto 1998:9632816}" "" "" "" "Japan" "" "0" "" "" "" "PBD3-03" "00310081" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBD095" "00310082" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "" "" "" "" "" "0" "" "" "" "PBD096" "00310083" "" "" "" "1" "02015" "{PMID:Chang 1998:9792857}" "{PMID:Chang 1997:9090384}, {PMID:Chang 1998:9792857}" "" "" "" "" "0" "" "" "" "PBB040" "00310084" "" "" "" "1" "02015" "{PMID:Gootjes 2003:14571262}" "" "" "" "" "" "0" "" "" "" "PEX12-02" "00310085" "" "" "" "1" "02015" "{PMID:Gootjes 2003:14571262}" "" "" "" "" "" "0" "" "" "" "PEX12-05" "00310086" "" "" "" "1" "02015" "{PMID:Gootjes 2003:14571262}" "" "" "" "" "" "0" "" "" "" "PEX12-04" "00310087" "" "" "" "1" "02015" "{PMID:Okumoto 1998:9632816}" "" "" "" "Japan" "" "0" "" "" "" "PBD3-01" "00310088" "" "" "" "1" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Turkey" "" "0" "" "" "" "PBD-HR10" "00310089" "" "" "" "1" "02015" "" "" "" "" "" "" "0" "" "" "" "" "00310090" "" "" "" "1" "02015" "{PMID:Zeharia 2007:17534573}" "" "M" "" "Iran" "" "0" "" "" "Jewish" "Pat1" "00310091" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310092" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310093" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310094" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310095" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310096" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310098" "" "" "" "1" "00006" "{PMID:Okumoto 1997:9354782}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00310099" "" "" "" "1" "00006" "{PMID:Konkolova 2015:26094004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "white" "patient" "00310100" "" "" "" "1" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310101" "" "" "" "1" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310102" "" "" "" "1" "00006" "{PMID:Gootjes 2004:15184617}" "" "F" "" "" "" "0" "" "" "" "patient" "00310103" "" "" "" "1" "00006" "{PMID:Zeharia 2007:17534573}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Iran" "" "0" "" "" "Jewish" "Pat2" "00310619" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat669" "00310620" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat607" "00310621" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat673" "00310628" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat649" "00310644" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat704" "00310646" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat633" "00310647" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat644" "00310648" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat650" "00310667" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00310668" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00291679" "00198" "00291680" "00198" "00310057" "05079" "00310058" "05079" "00310059" "05079" "00310060" "05079" "00310061" "05079" "00310062" "05079" "00310063" "05079" "00310064" "05079" "00310065" "05079" "00310066" "05079" "00310067" "05079" "00310068" "05079" "00310069" "05079" "00310070" "05079" "00310071" "05079" "00310072" "05079" "00310073" "05079" "00310074" "05079" "00310075" "05079" "00310076" "05079" "00310077" "05079" "00310078" "05079" "00310080" "05079" "00310081" "05079" "00310082" "05079" "00310083" "05079" "00310084" "05079" "00310085" "05079" "00310086" "05079" "00310087" "05079" "00310088" "05079" "00310089" "05079" "00310090" "05079" "00310091" "05079" "00310092" "05079" "00310093" "05079" "00310094" "05079" "00310095" "05079" "00310096" "05079" "00310098" "05079" "00310099" "05079" "00310100" "05079" "00310101" "05079" "00310102" "05079" "00310103" "05079" "00310619" "05079" "00310620" "05079" "00310621" "05079" "00310628" "05079" "00310644" "05079" "00310646" "05079" "00310647" "05079" "00310648" "05079" "00310667" "05079" "00310668" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02049, 03755, 05079 ## Count = 51 "{{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}}" "0000235368" "05079" "00310057" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235369" "05079" "00310058" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235370" "05079" "00310059" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235371" "05079" "00310060" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235372" "05079" "00310061" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235373" "05079" "00310062" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235374" "05079" "00310063" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235375" "05079" "00310064" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235376" "05079" "00310065" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235377" "05079" "00310066" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235378" "05079" "00310067" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235379" "05079" "00310068" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235380" "05079" "00310069" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235381" "05079" "00310070" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235382" "05079" "00310071" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235383" "05079" "00310072" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235384" "05079" "00310073" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235385" "05079" "00310074" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235386" "05079" "00310075" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, infantile Refsum disease" "" "0000235387" "05079" "00310076" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235388" "05079" "00310077" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235389" "05079" "00310078" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235391" "05079" "00310080" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235392" "05079" "00310081" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235393" "05079" "00310082" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235394" "05079" "00310083" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235395" "05079" "00310084" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235396" "05079" "00310085" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235397" "05079" "00310086" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235398" "05079" "00310087" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235399" "05079" "00310088" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235400" "05079" "00310089" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235401" "05079" "00310090" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235402" "05079" "00310091" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235403" "05079" "00310092" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235404" "05079" "00310093" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235405" "05079" "00310094" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235406" "05079" "00310095" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235407" "05079" "00310096" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235408" "05079" "00310098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235410" "05079" "00310099" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235411" "05079" "00310102" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "trihydroxycholestanoic acidemia" "" "0000235412" "05079" "00310103" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235908" "05079" "00310619" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235909" "05079" "00310620" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235910" "05079" "00310621" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235917" "05079" "00310628" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235933" "05079" "00310644" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235935" "05079" "00310646" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235936" "05079" "00310647" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235937" "05079" "00310648" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292847" "00291679" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292848" "00291680" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311205" "00310057" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311206" "00310058" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311207" "00310059" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311208" "00310060" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311209" "00310061" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311210" "00310062" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311211" "00310063" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311212" "00310064" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311213" "00310065" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311214" "00310066" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311215" "00310067" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311216" "00310068" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311217" "00310069" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311218" "00310070" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311219" "00310071" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311220" "00310072" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311221" "00310073" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311222" "00310074" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311223" "00310075" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311224" "00310076" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311225" "00310077" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311226" "00310078" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311228" "00310080" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311229" "00310081" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311230" "00310082" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311231" "00310083" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311232" "00310084" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311233" "00310085" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311234" "00310086" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "SEQ" "DNA" "" "" "0000311235" "00310087" "1" "02015" "00006" "2006-05-07 19:41:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311236" "00310088" "1" "02015" "00006" "2006-12-03 18:15:00" "" "" "SEQ" "DNA" "" "" "0000311237" "00310089" "1" "02015" "00006" "2009-06-15 12:55:17" "" "" "SEQ" "DNA" "" "" "0000311238" "00310090" "1" "02015" "00006" "2010-05-19 10:28:01" "" "" "SEQ" "DNA" "" "" "0000311239" "00310091" "1" "03774" "00006" "2012-05-07 08:35:16" "" "" "SEQ" "DNA" "" "" "0000311240" "00310092" "1" "03774" "00006" "2012-05-07 08:37:32" "" "" "SEQ" "DNA" "" "" "0000311241" "00310093" "1" "03774" "00006" "2012-05-07 08:42:18" "" "" "SEQ" "DNA" "" "" "0000311242" "00310094" "1" "03774" "00006" "2012-05-07 08:44:11" "" "" "SEQ" "DNA" "" "" "0000311243" "00310095" "1" "03774" "00006" "2012-05-07 08:46:46" "" "" "SEQ" "DNA" "" "" "0000311244" "00310096" "1" "03774" "00006" "2012-05-07 08:49:32" "" "" "SEQ" "DNA" "" "" "0000311245" "00310098" "1" "00006" "00006" "2020-09-08 15:54:23" "" "" "SEQ" "DNA" "" "" "0000311247" "00310099" "1" "00006" "00006" "2020-09-08 16:27:06" "" "" "SEQ" "DNA" "" "" "0000311248" "00310100" "1" "00006" "00006" "2020-09-08 16:46:20" "" "" "SEQ" "DNA" "" "" "0000311249" "00310101" "1" "00006" "00006" "2020-09-08 16:48:30" "" "" "SEQ" "DNA" "" "" "0000311250" "00310102" "1" "00006" "00006" "2020-09-08 16:56:22" "" "" "SEQ" "DNA" "" "" "0000311251" "00310103" "1" "00006" "00006" "2020-09-08 18:11:29" "" "" "SEQ" "DNA" "" "" "0000311771" "00310619" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311772" "00310620" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311773" "00310621" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311780" "00310628" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311796" "00310644" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311798" "00310646" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311799" "00310647" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311800" "00310648" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311819" "00310667" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000311820" "00310668" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{geneid}}" "0000311205" "PEX12" "0000311206" "PEX12" "0000311207" "PEX12" "0000311208" "PEX12" "0000311209" "PEX12" "0000311210" "PEX12" "0000311211" "PEX12" "0000311212" "PEX12" "0000311213" "PEX12" "0000311214" "PEX12" "0000311215" "PEX12" "0000311216" "PEX12" "0000311217" "PEX12" "0000311218" "PEX12" "0000311219" "PEX12" "0000311220" "PEX12" "0000311221" "PEX12" "0000311222" "PEX12" "0000311223" "PEX12" "0000311224" "PEX12" "0000311225" "PEX12" "0000311226" "PEX12" "0000311228" "PEX12" "0000311229" "PEX12" "0000311230" "PEX12" "0000311231" "PEX12" "0000311232" "PEX12" "0000311233" "PEX12" "0000311237" "PEX12" "0000311238" "PEX12" "0000311239" "PEX12" "0000311240" "PEX12" "0000311241" "PEX12" "0000311242" "PEX12" "0000311243" "PEX12" "0000311244" "PEX12" "0000311245" "PEX12" "0000311247" "PEX12" "0000311248" "PEX12" "0000311249" "PEX12" "0000311250" "PEX12" "0000311251" "PEX12" "0000311771" "PEX12" "0000311772" "PEX12" "0000311773" "PEX12" "0000311780" "PEX1" "0000311796" "PEX6" "0000311798" "PEX12" "0000311799" "PEX12" "0000311800" "PEX12" "0000311819" "PEX12" "0000311820" "PEX12" ## 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 = 76 "{{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}}" "0000296903" "0" "30" "17" "33904286" "33904286" "subst" "0.00215285" "02325" "PEX12_000033" "g.33904286G>A" "" "" "" "PEX12(NM_000286.2):c.451C>T (p.R151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35577267G>A" "" "likely benign" "" "0000296904" "0" "30" "17" "33904054" "33904054" "subst" "0" "02325" "PEX12_000032" "g.33904054T>C" "" "" "" "PEX12(NM_000286.2):c.680+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35577035T>C" "" "likely benign" "" "0000300724" "0" "90" "17" "33904914" "33904914" "subst" "0.000153775" "02326" "PEX12_000010" "g.33904914C>A" "" "" "" "PEX12(NM_000286.2):c.126+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35577895C>A" "" "pathogenic" "" "0000305483" "0" "10" "17" "33904939" "33904939" "subst" "0.00492081" "01943" "PEX12_000024" "g.33904939T>A" "" "" "" "PEX12(NM_000286.2):c.102A>T (p.R34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35577920T>A" "" "benign" "" "0000325337" "0" "50" "17" "33903123" "33903123" "subst" "0" "01804" "PEX12_000023" "g.33903123A>G" "" "" "" "PEX12(NM_000286.2):c.758T>C (p.(Val253Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35576104A>G" "" "VUS" "" "0000561061" "0" "70" "17" "33904914" "33904914" "subst" "0.000153775" "01943" "PEX12_000010" "g.33904914C>A" "" "" "" "PEX12(NM_000286.2):c.126+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35577895C>A" "" "likely pathogenic" "" "0000561062" "0" "10" "17" "33904939" "33904939" "subst" "0.00492081" "02326" "PEX12_000024" "g.33904939T>A" "" "" "" "PEX12(NM_000286.2):c.102A>T (p.R34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35577920T>A" "" "benign" "" "0000616471" "0" "50" "17" "33904281" "33904281" "subst" "0" "01943" "PEX12_000036" "g.33904281C>A" "" "" "" "PEX12(NM_000286.2):c.456G>T (p.W152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35577262C>A" "" "VUS" "" "0000649536" "1" "50" "17" "33903202" "33903202" "subst" "0" "03575" "PEX12_000001" "g.33903202T>G" "1/2795 individuals" "Faruq 2020, submtted" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs187526749}" "Germline" "" "rs187526749" "0" "" "" "g.35576183T>G" "" "VUS" "" "0000649537" "1" "70" "17" "33904121" "33904121" "subst" "0" "03575" "PEX12_000038" "g.33904121G>A" "3/2795 individuals" "Faruq 2020, submtted" "" "" "3 heterozygous, no homozygous; {DB:CLININrs786205502}" "Germline" "" "rs786205502" "0" "" "" "g.35577102G>A" "" "likely pathogenic" "" "0000686533" "1" "90" "17" "33903202" "33903202" "subst" "0" "02015" "PEX12_000001" "g.33903202T>G" "" "{PMID:Steinberg 2004:15542397}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686534" "3" "90" "17" "33904476" "33904477" "ins" "0" "02015" "PEX12_000002" "g.33904476_33904477insTT" "" "{PMID:Steinberg 2004:15542397}" "" "261insAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686535" "3" "90" "17" "33904202" "33904204" "del" "0" "02015" "PEX12_000003" "g.33904202_33904204del" "" "{PMID:Steinberg 2004:15542397}" "" "531_533delAAC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686536" "1" "90" "17" "33904196" "33904196" "dup" "0" "02015" "PEX12_000004" "g.33904196dup" "" "{PMID:Steinberg 2004:15542397}" "" "542insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686537" "1" "90" "17" "33903148" "33903151" "dup" "0" "02015" "PEX12_000005" "g.33903148_33903151dup" "" "{PMID:Chang 1997:9090384}, {PMID:Chang 1998:9792857}" "" "733_734insGCCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686538" "1" "90" "17" "33902994" "33902994" "del" "0" "02015" "PEX12_000006" "g.33902994del" "" "{PMID:Steinberg 2004:15542397}" "" "887delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686539" "1" "90" "17" "33902992" "33902993" "del" "0.00207734" "02015" "PEX12_000008" "g.33902992_33902993del" "" "{PMID:Chang 1998:9792857}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686540" "1" "90" "17" "33902993" "33902994" "del" "0" "02015" "PEX12_000008" "g.33902993_33902994del" "" "{PMID:Gootjes 2003:14571262}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686541" "3" "90" "17" "33902992" "33902993" "del" "0.00207734" "02015" "PEX12_000008" "g.33902992_33902993del" "" "{PMID:Steinberg 2004:15542397}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686542" "3" "90" "17" "33902992" "33902993" "del" "0.00207734" "02015" "PEX12_000008" "g.33902992_33902993del" "" "{PMID:Gootjes 2003:14571262}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686543" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686544" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686545" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686546" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686547" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686548" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686549" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686550" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686551" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Gootjes 2004:15241794}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686552" "3" "90" "17" "33902922" "33902922" "subst" "0" "02015" "PEX12_000009" "g.33902922G>A" "" "{PMID:Chang 1999:10562279}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686553" "1" "90" "17" "33904914" "33904914" "subst" "0.000153775" "02015" "PEX12_000010" "g.33904914C>A" "" "{PMID:Chang 1998:9792857}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686554" "1" "90" "17" "33904914" "33904914" "subst" "0.000153775" "02015" "PEX12_000010" "g.33904914C>A" "" "{PMID:Chang 1998:9792857}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686556" "3" "90" "17" "33904199" "33904199" "subst" "0" "02015" "PEX12_000011" "g.33904199G>A" "" "{PMID:Okumoto 1998:9632816}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686557" "3" "90" "17" "33904531" "33904533" "del" "0" "02015" "PEX12_000013" "g.33904531_33904533del" "" "{PMID:Chang 1998:9792857}" "" "202_204delCTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686558" "3" "90" "17" "33904466" "33904469" "del" "0" "02015" "PEX12_000014" "g.33904466_33904469del" "" "{PMID:Chang 1998:9792857}" "" "268_271delAAGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686559" "3" "90" "17" "33903194" "33903197" "del" "0.000079885" "02015" "PEX12_000015" "g.33903194_33903197del" "" "{PMID:Chang 1997:9090384}, {PMID:Chang 1998:9792857}" "" "684_687delTAGT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686560" "3" "90" "17" "33904464" "33904464" "subst" "0" "02015" "PEX12_000017" "g.33904464T>A" "" "{PMID:Gootjes 2003:14571262}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686561" "3" "90" "17" "33904429" "33904429" "dup" "0" "02015" "PEX12_000018" "g.33904429dup" "" "{PMID:Gootjes 2003:14571262}" "" "308_309insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686562" "3" "90" "17" "33904133" "33904133" "subst" "0" "02015" "PEX12_000019" "g.33904133G>A" "" "{PMID:Gootjes 2003:14571262}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686563" "3" "90" "17" "33903005" "33903006" "del" "0" "02015" "PEX12_000021" "g.33903005_33903006del" "" "{PMID:Okumoto 1998:9632816}" "" "875_876delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686564" "3" "90" "17" "33903005" "33903006" "del" "0" "02015" "PEX12_000021" "g.33903005_33903006del" "" "{PMID:Krause 2006:17041890}" "" "875_876delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686565" "1" "70" "17" "" "" "" "" "02015" "PEX12_000023" "g.?" "" "" "" "" "ACMG PS1, PM2, PM5, PM6, PP2, PP3" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000686566" "3" "90" "17" "33904939" "33904939" "subst" "0.00492081" "02015" "PEX12_000024" "g.33904939T>A" "" "{PMID:Zeharia 2007:17534573}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686567" "1" "90" "17" "33905025" "33905025" "dup" "0" "03774" "PEX12_000025" "g.33905025dup" "" "{PMID:Ebberink 2011:21031596}" "" "16dupG" "no variant 2nd chromosome reported" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686568" "1" "90" "17" "33904517" "33904517" "subst" "0" "03774" "PEX12_000026" "g.33904517A>C" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686569" "1" "90" "17" "33904283" "33904292" "del" "0" "03774" "PEX12_000027" "g.33904283_33904292del" "" "{PMID:Ebberink 2011:21031596}" "" "445_454delTCTTCCCGCT" "no variant 2nd chromosome reported" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686570" "1" "90" "17" "33904277" "33904277" "subst" "0" "03774" "PEX12_000028" "g.33904277G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686571" "3" "90" "17" "33903106" "33903106" "subst" "0" "03774" "PEX12_000029" "g.33903106G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686572" "1" "90" "17" "33902961" "33902961" "subst" "0" "03774" "PEX12_000030" "g.33902961C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686574" "2" "90" "17" "33903137" "33903137" "dup" "0" "00006" "PEX12_000016" "g.33903137dup" "" "{PMID:Chang 1997:9090384}, {PMID:Chang 1998:9792857}" "" "744-745insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686575" "2" "90" "17" "33904199" "33904199" "subst" "0" "00006" "PEX12_000011" "g.33904199G>A" "" "{PMID:Chang 1998:9792857}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686576" "2" "90" "17" "33904199" "33904199" "subst" "0" "00006" "PEX12_000011" "g.33904199G>A" "" "{PMID:Chang 1998:9792857}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686577" "2" "90" "17" "33905014" "33905015" "del" "0" "00006" "PEX12_000012" "g.33905014_33905015del" "" "{PMID:Chang 1998:9792857}" "" "26-27delCA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686578" "3" "90" "17" "33903190" "33903190" "subst" "0" "00006" "PEX12_000034" "g.33903190T>A" "" "{PMID:Okumoto 1997:9354782}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686579" "2" "90" "17" "33904112" "33904112" "subst" "0" "00006" "PEX12_000020" "g.33904112G>A" "" "{PMID:Gootjes 2003:14571262}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686581" "21" "90" "17" "33902992" "33902993" "del" "0.00207734" "00006" "PEX12_000008" "g.33902992_33902993del" "" "{PMID:Konkolova 2015:26094004}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686582" "11" "90" "17" "33903115" "33903116" "dup" "0" "00006" "PEX12_000035" "g.33903115_33903116dup" "" "{PMID:Konkolova 2015:26094004}" "" "767_768dupAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686586" "1" "90" "17" "33904357" "33904359" "del" "0" "00006" "PEX12_000037" "g.33904357_33904359del" "" "{PMID:Ebberink 2011:21031596}" "" "378_380delTTC" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686587" "1" "90" "17" "33904258" "33904259" "del" "0" "00006" "PEX12_000007" "g.33904258_33904259del" "" "{PMID:Ebberink 2011:21031596}" "" "478_479delCA" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686588" "1" "90" "17" "33902932" "33902932" "subst" "0" "00006" "PEX12_000022" "g.33902932G>A" "" "{PMID:Gootjes 2004:15184617}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686589" "2" "90" "17" "33904199" "33904199" "subst" "0" "00006" "PEX12_000011" "g.33904199G>A" "" "{PMID:Gootjes 2004:15184617}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686590" "2" "90" "17" "33903148" "33903151" "dup" "0" "00006" "PEX12_000005" "g.33903148_33903151dup" "" "{PMID:Steinberg 2004:15542397}" "" "734ins4bpGCCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686591" "2" "90" "17" "33902832" "33902834" "del" "0" "00006" "PEX12_000039" "g.33902832_33902834del" "" "{PMID:Steinberg 2004:15542397}" "" "1047-1049delACA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686592" "3" "90" "17" "33904939" "33904939" "subst" "0.00492081" "00006" "PEX12_000024" "g.33904939T>A" "" "{PMID:Zeharia 2007:17534573}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687291" "3" "90" "17" "33904207" "33904209" "del" "0" "00006" "PEX12_000003" "g.33904207_33904209del" "" "{PMID:Yik 2009:19105186}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "g.35577188_35577190del" "" "pathogenic (recessive)" "" "0000687292" "3" "90" "17" "33902994" "33902995" "del" "0" "00006" "PEX12_000008" "g.33902994_33902995del" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.35575975_35575976del" "" "pathogenic (recessive)" "" "0000687293" "3" "90" "17" "33902922" "33902922" "subst" "0" "00006" "PEX12_000009" "g.33902922G>A" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.35575903G>A" "" "pathogenic (recessive)" "" "0000687318" "1" "90" "17" "33904196" "33904196" "dup" "0" "00006" "PEX12_000004" "g.33904196dup" "" "{PMID:Yik 2009:19105186}" "" "1047_1049delACA" "" "Germline" "" "" "0" "" "" "g.35577177dup" "" "pathogenic (recessive)" "" "0000687319" "1" "90" "17" "33902835" "33902837" "del" "0" "00006" "PEX12_000039" "g.33902835_33902837del" "" "{PMID:Yik 2009:19105186}" "" "887_888delTC" "" "Germline" "" "" "0" "" "" "g.35575816_35575818del" "" "pathogenic (recessive)" "" "0000687320" "1" "90" "17" "33902994" "33902995" "del" "0" "00006" "PEX12_000008" "g.33902994_33902995del" "" "{PMID:Yik 2009:19105186}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "g.35575975_35575976del" "" "pathogenic (recessive)" "" "0000687347" "2" "90" "17" "33903149" "33903152" "dup" "0" "00006" "PEX12_000005" "g.33903149_33903152dup" "" "{PMID:Yik 2009:19105186}" "" "730_733dupGCCT" "" "Germline" "" "" "0" "" "" "g.35576130_35576133dup" "" "pathogenic (recessive)" "" "0000687348" "2" "90" "17" "33902994" "33902994" "del" "0" "00006" "PEX12_000006" "g.33902994del" "" "{PMID:Yik 2009:19105186}" "" "887delT" "" "Germline" "" "" "0" "" "" "g.35575975del" "" "pathogenic (recessive)" "" "0000687352" "0" "50" "17" "33904939" "33904939" "subst" "0.00492081" "00006" "PEX12_000024" "g.33904939T>A" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000687354" "0" "90" "17" "33903202" "33903202" "subst" "0" "00006" "PEX12_000001" "g.33903202T>G" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687370" "0" "10" "17" "33903148" "33903148" "subst" "0.0120714" "00006" "PEX12_000041" "g.33903148A>T" "1/116 chromosomes" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.35576129A>T" "" "benign" "" "0000687371" "0" "10" "17" "33903014" "33903014" "subst" "0.00838075" "00006" "PEX12_000040" "g.33903014G>A" "1/116 chromosomes" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.35575995G>A" "" "benign" "" ## 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 PEX12 ## Count = 76 "{{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}}" "0000296903" "00015993" "30" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Arg151Cys)" "" "0000296904" "00015993" "30" "680" "3" "680" "3" "c.680+3A>G" "r.spl?" "p.?" "" "0000300724" "00015993" "90" "126" "1" "126" "1" "c.126+1G>T" "r.spl?" "p.?" "" "0000305483" "00015993" "10" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Arg34Ser)" "" "0000325337" "00015993" "50" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Val253Ala)" "" "0000561061" "00015993" "70" "126" "1" "126" "1" "c.126+1G>T" "r.spl?" "p.?" "" "0000561062" "00015993" "10" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Arg34Ser)" "" "0000616471" "00015993" "50" "456" "0" "456" "0" "c.456G>T" "r.(?)" "p.(Trp152Cys)" "" "0000649536" "00015993" "50" "681" "-2" "681" "-2" "c.681-2A>C" "r.spl?" "p.?" "" "0000649537" "00015993" "70" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Gln206*)" "" "0000686533" "00015993" "90" "681" "-2" "681" "-2" "c.681-2A>C" "r.spl" "p.?" "2i" "0000686534" "00015993" "90" "260" "0" "261" "0" "c.260_261insAA" "r.(?)" "p.(Tyr87*)" "2" "0000686535" "00015993" "90" "533" "0" "535" "0" "c.533_535del" "r.(?)" "p.(Gln178del)" "2" "0000686536" "00015993" "90" "541" "0" "541" "0" "c.541dup" "r.(?)" "p.(Tyr181Leufs*37)" "2" "0000686537" "00015993" "90" "730" "0" "733" "0" "c.730_733dup" "r.(?)" "p.(Leu245Cysfs*19)" "3" "0000686538" "00015993" "90" "887" "0" "887" "0" "c.887del" "r.(?)" "p.(Leu296Profs*5)" "3" "0000686539" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000686540" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000686541" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000686542" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000686543" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686544" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686545" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686546" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686547" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686548" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686549" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686550" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686551" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686552" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000686553" "00015993" "90" "126" "1" "126" "1" "c.126+1G>T" "r.spl" "p.?" "1i" "0000686554" "00015993" "90" "126" "1" "126" "1" "c.126+1G>T" "r.spl" "p.?" "1i" "0000686556" "00015993" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180*)" "2" "0000686557" "00015993" "90" "204" "0" "206" "0" "c.204_206del" "r.(?)" "p.(Leu70del)" "2" "0000686558" "00015993" "90" "268" "0" "271" "0" "c.268_271del" "r.(?)" "p.(Lys90Glufs*3)" "2" "0000686559" "00015993" "90" "684" "0" "687" "0" "c.684_687del" "r.(?)" "p.(Ser229Argfs*3)" "3" "0000686560" "00015993" "90" "273" "0" "273" "0" "c.273A>T" "r.(?)" "p.(Arg91Ser)" "2" "0000686561" "00015993" "90" "308" "0" "308" "0" "c.308dup" "r.(?)" "p.(Leu103Phefs*3)" "2" "0000686562" "00015993" "90" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Arg202*)" "2" "0000686563" "00015993" "90" "875" "0" "876" "0" "c.875_876del" "r.(?)" "p.(Ser292*)" "3" "0000686564" "00015993" "90" "875" "0" "876" "0" "c.875_876del" "r.(?)" "p.(Ser292*)" "3" "0000686565" "00015993" "70" "758" "0" "758" "0" "c.758T>C" "r.(?)" "p.(Phe1765Ser)" "3" "0000686566" "00015993" "90" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Arg34Ser)" "1" "0000686567" "00015993" "90" "16" "0" "16" "0" "c.16dup" "r.(?)" "p.(Ala6Glyfs*11)" "1" "0000686568" "00015993" "90" "220" "0" "220" "0" "c.220T>G" "r.(?)" "p.(Tyr74Asp)" "2" "0000686569" "00015993" "90" "445" "0" "454" "0" "c.445_454del" "r.(?)" "p.(Ser149Glyfs*15)" "2" "0000686570" "00015993" "90" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154*)" "2" "0000686571" "00015993" "90" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Gln259*)" "3" "0000686572" "00015993" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Cys307Tyr)" "3" "0000686574" "00015993" "90" "744" "0" "744" "0" "c.744dup" "r.(?)" "p.(Thr249Tyrfs*14)" "" "0000686575" "00015993" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180*)" "" "0000686576" "00015993" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180*)" "" "0000686577" "00015993" "90" "26" "0" "27" "0" "c.26_27del" "r.(?)" "p.(Thr9Serfs*7)" "" "0000686578" "00015993" "90" "691" "0" "691" "0" "c.691A>T" "r.(?)" "p.(Lys231*)" "" "0000686579" "00015993" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Gln209*)" "" "0000686581" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "" "0000686582" "00015993" "90" "765" "0" "766" "0" "c.765_766dup" "r.(?)" "p.(Phe256Tyrfs*22)" "" "0000686586" "00015993" "90" "378" "0" "380" "0" "c.378_380del" "r.(?)" "p.(Lys127del)" "" "0000686587" "00015993" "90" "478" "0" "479" "0" "c.478_479del" "r.(?)" "p.(Leu160Glyfs*57)" "" "0000686588" "00015993" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Leu317Phe)" "" "0000686589" "00015993" "90" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180*)" "" "0000686590" "00015993" "90" "730" "0" "733" "0" "c.730_733dup" "r.(?)" "p.(Leu245Cysfs*19)" "" "0000686591" "00015993" "90" "1047" "0" "1049" "0" "c.1047_1049del" "r.(?)" "p.(Gln349del)" "" "0000686592" "00015993" "90" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Arg34Ser)" "" "0000687291" "00015993" "90" "533" "0" "535" "0" "c.533_535del" "r.(?)" "p.(Gln178del)" "2" "0000687292" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000687293" "00015993" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "3" "0000687318" "00015993" "90" "541" "0" "541" "0" "c.541dup" "r.(?)" "p.(Tyr181Leufs*37)" "2" "0000687319" "00015993" "90" "1047" "0" "1049" "0" "c.1047_1049del" "r.(?)" "p.(Gln349del)" "3" "0000687320" "00015993" "90" "888" "0" "889" "0" "c.888_889del" "r.(?)" "p.(Leu297Thrfs*12)" "3" "0000687347" "00015993" "90" "730" "0" "733" "0" "c.730_733dup" "r.(?)" "p.(Leu245Cysfs*19)" "3" "0000687348" "00015993" "90" "887" "0" "887" "0" "c.887del" "r.(?)" "p.(Leu296Profs*5)" "3" "0000687352" "00015993" "50" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Arg34Ser)" "" "0000687354" "00015993" "90" "681" "-2" "681" "-2" "c.681-2A>C" "r.spl" "p.?" "" "0000687370" "00015993" "10" "733" "0" "733" "0" "c.733T>A" "r.(?)" "p.(Leu245Ile)" "" "0000687371" "00015993" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Asp289=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{variantid}}" "0000292847" "0000649536" "0000292848" "0000649537" "0000311205" "0000686533" "0000311206" "0000686534" "0000311207" "0000686535" "0000311208" "0000686536" "0000311208" "0000686590" "0000311209" "0000686537" "0000311209" "0000686574" "0000311210" "0000686538" "0000311210" "0000686591" "0000311211" "0000686539" "0000311211" "0000686575" "0000311212" "0000686540" "0000311212" "0000686579" "0000311213" "0000686541" "0000311214" "0000686542" "0000311215" "0000686543" "0000311216" "0000686544" "0000311217" "0000686545" "0000311218" "0000686546" "0000311219" "0000686547" "0000311220" "0000686548" "0000311221" "0000686549" "0000311222" "0000686550" "0000311223" "0000686551" "0000311224" "0000686552" "0000311225" "0000686553" "0000311225" "0000686576" "0000311226" "0000686554" "0000311226" "0000686577" "0000311228" "0000686556" "0000311229" "0000686557" "0000311230" "0000686558" "0000311231" "0000686559" "0000311232" "0000686560" "0000311233" "0000686561" "0000311234" "0000686562" "0000311235" "0000686563" "0000311236" "0000686564" "0000311237" "0000686565" "0000311238" "0000686566" "0000311239" "0000686567" "0000311240" "0000686568" "0000311241" "0000686569" "0000311242" "0000686570" "0000311243" "0000686571" "0000311244" "0000686572" "0000311245" "0000686578" "0000311247" "0000686581" "0000311247" "0000686582" "0000311248" "0000686586" "0000311249" "0000686587" "0000311250" "0000686588" "0000311250" "0000686589" "0000311251" "0000686592" "0000311771" "0000687291" "0000311772" "0000687292" "0000311773" "0000687293" "0000311780" "0000687352" "0000311796" "0000687354" "0000311798" "0000687318" "0000311798" "0000687347" "0000311799" "0000687319" "0000311799" "0000687348" "0000311800" "0000687320" "0000311819" "0000687370" "0000311820" "0000687371"