### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EBP) # 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}}" "EBP" "emopamil binding protein (sterol isomerase)" "X" "p11.23-p11.22" "unknown" "NG_007452.1" "UD_132085367403" "" "https://www.LOVD.nl/EBP" "" "1" "3133" "10682" "300205" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/EBP_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2018-03-14 15:11:19" "00000" "2026-01-20 18:57:21" ## 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}}" "00000715" "EBP" "emopamil binding protein (sterol isomerase)" "001" "NM_006579.2" "" "NP_006570.1" "" "" "" "-205" "952" "693" "48380164" "48387104" "00000" "2012-09-13 12:49:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "00298" "FDH" "hypoplasia, dermal, focal (FDH)" "XLD" "305600" "" "X-linked dominant" "" "00006" "2014-01-17 19:02:50" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02222" "CPDX2" "chondrodysplasia punctata, type 2, X-linked dominant (CPDX-2, Conradi-Hunermann syndrome)" "XLD" "302960" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06846" "MEND" "MEND syndrome" "XLR" "300960" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EBP" "02222" "EBP" "06846" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00155194" "" "" "" "2" "" "00115" "personal communication" "3-generation family, 2 affected cousins, cousin of 4(III8)" "M" "" "" "" "0" "" "" "" "3(III4)" "00155195" "" "" "00155194" "1" "" "00115" "personal communication" "Cousin of 3(III4)" "M" "" "" "" "0" "" "" "" "4(III8)" "00155196" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00155197" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00155198" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00155199" "" "" "" "1" "" "02405" "" "father germinal mosaicism, 2 foetus abortion, diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00163788" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y09m" "0" "" "" "" "" "00163789" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y09m" "0" "" "" "" "" "00163790" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "21y" "0" "" "" "" "" "00163791" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y01m" "0" "" "" "" "" "00163792" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y01m" "0" "" "" "" "" "00163793" "" "" "" "1" "" "02405" "" "" "" "no" "France" "17y" "0" "" "" "" "" "00163794" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "00y00m00d" "0" "" "" "" "" "00163795" "" "" "" "1" "" "02405" "" "dead 2y" "F" "no" "France" "" "0" "" "" "" "" "00163796" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00163797" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y00m01d" "0" "" "" "" "" "00163798" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "20y" "0" "" "" "" "" "00163799" "" "" "" "1" "" "02405" "" "diagnosis in utero, 38 year-old mother" "F" "no" "France" "" "0" "" "" "" "" "00163800" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "04y" "0" "" "" "" "" "00163801" "" "" "" "1" "" "02405" "" "diagnosis in utero" "M" "no" "France" "" "0" "" "" "" "" "00163802" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "15y" "0" "" "" "" "" "00163803" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "12y" "0" "" "" "" "" "00163804" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "02y" "0" "" "" "" "" "00163805" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y01m" "0" "" "" "" "" "00163806" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "00y01m" "0" "" "" "" "" "00163807" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00163808" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "21y" "0" "" "" "" "" "00163809" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "" "0" "" "" "" "" "00163810" "" "" "" "1" "" "02405" "" "diagnosis in utero" "" "no" "France" "" "0" "" "" "" "" "00163811" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00163812" "" "" "" "1" "" "02405" "" "diagnosis in utero" "F" "no" "France" "" "0" "" "" "" "" "00163813" "" "" "" "1" "" "02405" "" "" "F" "no" "France" "10y" "0" "" "" "" "" "00234006" "" "" "" "2" "" "00577" "{PMID:Patrizi 2012:22414489}" "" "F" "" "Italy" "" "0" "" "" "white" "case report" "00295069" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295070" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295449" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00445041" "" "" "" "2" "" "00006" "{PMID:Kessel 2021:34169787}" "family, 2 affected" "" "" "Denmark" "" "0" "" "" "" "CPXD00571" "00468470" "" "" "" "2" "" "00006" "{PMID:Wang 2024:38184101}" "family" "F" "" "China" "" "0" "" "" "" "Pat29" "00468471" "" "" "" "2" "" "00006" "{PMID:Wang 2024:38184101}" "family" "F" "" "China" "" "0" "" "" "" "Pat30" "00469850" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 42 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00155194" "00198" "00155195" "00198" "00155196" "02222" "00155197" "02222" "00155198" "02222" "00155199" "02222" "00163788" "02222" "00163789" "02222" "00163790" "02222" "00163791" "02222" "00163792" "02222" "00163793" "02222" "00163794" "02222" "00163795" "02222" "00163796" "02222" "00163797" "02222" "00163798" "02222" "00163799" "02222" "00163800" "02222" "00163801" "02222" "00163802" "02222" "00163803" "02222" "00163804" "02222" "00163805" "02222" "00163806" "02222" "00163807" "02222" "00163808" "02222" "00163809" "02222" "00163810" "02222" "00163811" "02222" "00163812" "02222" "00163813" "02222" "00234006" "00298" "00295069" "00198" "00295070" "00198" "00295449" "00198" "00445041" "00296" "00468470" "00296" "00468471" "00296" "00469850" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 00298, 01157, 02222, 05517, 06846 ## Count = 39 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000127744" "00198" "00155194" "00115" "Unknown" "" "TSH-XL, hypogonadism (HP:0000135), mild hypocortisolism (HP:0008163)" "" "" "" "" "" "" "" "" "" "" "" "0000127745" "00198" "00155195" "00115" "Unknown" "" "TSH-XL, hypogonadism (HP:0000135), mild hypocortisolism (HP:0008163)" "" "" "" "" "" "" "" "" "" "" "" "0000127746" "02222" "00155196" "02405" "Familial, X-linked dominant" "" "severe foetal form" "" "" "" "" "" "" "" "" "CDPX-2" "chondrodysplasia punctata" "" "0000127747" "02222" "00155197" "02405" "Unknown" "" "severe foetal form" "" "" "" "" "" "" "" "" "CDPX-2" "chondrodysplasia punctata" "" "0000127748" "02222" "00155198" "02405" "Isolated (sporadic)" "" "severe foetal form" "" "" "" "" "" "" "" "" "CDPX-2" "chondrodysplasia punctata" "" "0000127749" "02222" "00155199" "02405" "Familial, X-linked dominant" "" "severe foetal form" "" "" "" "" "" "" "" "" "CDPX-2" "chondrodysplasia punctata" "" "0000128907" "02222" "00163788" "02405" "Unknown" "" "typical skeletal features, ochtyosis and patchy alopecia" "" "00y09m" "" "" "" "" "" "" "CPDX-2" "" "" "0000128908" "02222" "00163789" "02405" "Unknown" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "00y09m" "" "" "" "" "" "" "CPDX-2" "" "" "0000128909" "02222" "00163790" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "21y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128910" "02222" "00163791" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "00y01m" "" "" "" "" "" "" "CPDX-2" "" "" "0000128911" "02222" "00163792" "02405" "Isolated (sporadic)" "" "several fetal form" "" "00y01m" "" "" "" "" "" "" "CPDX-2" "" "" "0000128912" "02222" "00163793" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "17y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128913" "02222" "00163794" "02405" "Isolated (sporadic)" "" "diagnosis in utero" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128915" "02222" "00163795" "02405" "Isolated (sporadic)" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128916" "02222" "00163796" "02405" "Isolated (sporadic)" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128917" "02222" "00163797" "02405" "Familial, X-linked" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "00y00m01d" "" "" "" "" "" "" "CPDX-2" "" "" "0000128918" "02222" "00163798" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "20y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128919" "02222" "00163799" "02405" "Familial, X-linked" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128920" "02222" "00163800" "02405" "Isolated (sporadic)" "" "phenotype limited to skin, ichtyosis without skeletal features" "" "04y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128921" "02222" "00163801" "02405" "Isolated (sporadic)" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128922" "02222" "00163802" "02405" "Isolated (sporadic)" "" "phenotype limited to skin, ichtyosis without letal features" "" "15y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128923" "02222" "00163803" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "12y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128924" "02222" "00163804" "02405" "Isolated (sporadic)" "" "phenoype limited to skin, ichtyosis without skeletal features" "" "02y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128925" "02222" "00163805" "02405" "Isolated (sporadic)" "" "phenotype limited to skin, ichtyosis without skeletal features" "" "00y01m" "" "" "" "" "" "" "CPDX-2" "" "" "0000128926" "02222" "00163806" "02405" "Isolated (sporadic)" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128927" "02222" "00163807" "02405" "Isolated (sporadic)" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128928" "02222" "00163808" "02405" "Isolated (sporadic)" "" "phenotype limited to skin, ichtyosis without skeletal features" "" "21y" "" "" "" "" "" "" "CPDX-2" "" "" "0000128929" "02222" "00163809" "02405" "Familial" "" "typical skeletal features, ichtyosis and patchy alopecia" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128930" "02222" "00163810" "02405" "Familial" "" "phenotype limited to skin, ichtyosis without skeletal features" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128931" "02222" "00163811" "02405" "Familial" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128932" "02222" "00163812" "02405" "Isolated (sporadic)" "" "severe fetal form" "" "" "" "" "" "" "" "" "CPDX-2" "" "" "0000128933" "02222" "00163813" "02405" "Unknown" "" "phenotype limited to skin, ichtyosis without skeletal features" "" "10y" "" "" "" "" "" "" "CPDX-2" "" "" "0000174428" "00298" "00234006" "00577" "Unknown" "" "basal cell carcinomas; skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), no papilloma periorally (-HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no scoliosis (-HP:0002650), no polydactyly (-HP:0010442), assymmetrical skeletal defects (HP:0011842), no ectrodactyly (-HP:0100257), oligodactyly (HP:0012165); , no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), ; osteopathia striata (HP:001074), no mammary hypoplasia in adults (-HP:0003187), height not less than P3-P10 (-HP:0004322)," "" "" "" "" "" "" "" "" "FDH" "focal dermal hypoplasia" "" "0000334293" "00296" "00445041" "00006" "Familial, X-linked recessive" "" "bilateral cataract, chondrodysplasia punctata" "" "" "" "" "" "" "" "" "CPDX2" "cataract" "" "0000353622" "00296" "00468470" "00006" "Familial, X-linked dominant" "" "cortical/nuclear cataract, pulverulent cataract; no symmetrical opacities; scoliosis, short stature, talipes, asymmetric growthmalar flattening, ichthyosis, sparse eyelashes, eyebrow and hair" "0y" "" "" "" "" "" "" "" "CDPX2" "bilateral cataract" "" "0000353623" "00296" "00468471" "00006" "Familial, X-linked dominant" "" "cortical/nuclear cataract; no symmetrical opacities; scoliosis, malar flattening, sparse eyelashes, eyebrow and hair, ichthyosis, short stature, limb undergrowth, talipes, asymmetric growth" "0y" "" "" "" "" "" "" "" "CDPX2" "bilateral cataract" "" "0000354995" "05517" "00469850" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDPX2" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000156058" "00155194" "1" "00115" "00115" "2010-06-11 11:39:19" "" "" "SEQ" "DNA" "" "" "0000156059" "00155195" "1" "00115" "00115" "2010-06-11 11:39:19" "" "" "SEQ" "DNA" "" "" "0000156060" "00155196" "1" "02405" "02405" "2018-03-13 16:30:15" "" "" "PCR;SEQ" "DNA" "" "" "0000156061" "00155197" "1" "02405" "02405" "2018-03-13 16:24:08" "" "" "PCR;SEQ" "DNA" "" "" "0000156062" "00155198" "1" "02405" "02405" "2018-03-13 16:18:43" "" "" "PCR;SEQ" "DNA" "" "" "0000156063" "00155199" "1" "02405" "02405" "2018-03-13 16:10:37" "" "" "PCR;SEQ" "DNA" "" "" "0000164650" "00163788" "1" "02405" "02405" "2018-04-12 14:51:39" "" "" "arraySEQ" "protein" "" "" "0000164651" "00163789" "1" "02405" "02405" "2018-04-12 15:33:56" "" "" "SEQ" "DNA" "" "" "0000164652" "00163790" "1" "02405" "02405" "2018-04-12 15:43:03" "" "" "SEQ" "DNA" "" "" "0000164653" "00163791" "1" "02405" "02405" "2018-04-12 15:48:28" "" "" "SEQ" "DNA" "" "" "0000164654" "00163792" "1" "02405" "02405" "2018-04-12 15:53:22" "" "" "SEQ" "DNA" "" "" "0000164655" "00163793" "1" "02405" "02405" "2018-04-12 16:00:14" "" "" "SEQ" "DNA" "" "" "0000164656" "00163794" "1" "02405" "02405" "2018-04-12 16:10:35" "" "" "SEQ" "DNA" "" "" "0000164657" "00163795" "1" "02405" "02405" "2018-04-12 16:21:09" "" "" "SEQ" "DNA" "" "" "0000164658" "00163796" "1" "02405" "02405" "2018-04-12 16:26:14" "" "" "SEQ" "DNA" "" "" "0000164659" "00163797" "1" "02405" "02405" "2018-04-12 16:30:34" "" "" "SEQ" "DNA" "" "" "0000164660" "00163798" "1" "02405" "02405" "2018-04-12 16:36:31" "" "" "SEQ" "DNA" "" "" "0000164661" "00163799" "1" "02405" "02405" "2018-04-12 16:41:03" "" "" "SEQ" "DNA" "" "" "0000164662" "00163800" "1" "02405" "02405" "2018-04-12 16:52:10" "" "" "SEQ" "DNA" "" "" "0000164663" "00163801" "1" "02405" "02405" "2018-04-12 16:55:46" "" "" "SEQ" "DNA" "" "" "0000164664" "00163802" "1" "02405" "02405" "2018-04-12 16:59:48" "" "" "SEQ" "DNA" "" "" "0000164665" "00163803" "1" "02405" "02405" "2018-04-12 17:03:00" "" "" "SEQ" "DNA" "" "" "0000164666" "00163804" "1" "02405" "02405" "2018-04-12 17:06:59" "" "" "SEQ" "DNA" "" "" "0000164667" "00163805" "1" "02405" "02405" "2018-04-12 17:12:01" "" "" "SEQ" "DNA" "" "" "0000164668" "00163806" "1" "02405" "02405" "2018-04-12 17:15:09" "" "" "SEQ" "DNA" "" "" "0000164669" "00163807" "1" "02405" "02405" "2018-04-12 17:19:25" "" "" "SEQ" "DNA" "" "" "0000164670" "00163808" "1" "02405" "02405" "2018-04-12 17:23:11" "" "" "SEQ" "DNA" "" "" "0000164671" "00163809" "1" "02405" "02405" "2018-04-12 17:26:31" "" "" "SEQ" "DNA" "" "" "0000164672" "00163810" "1" "02405" "02405" "2018-04-12 17:30:11" "" "" "SEQ" "DNA" "" "" "0000164673" "00163811" "1" "02405" "02405" "2018-04-12 17:33:32" "" "" "SEQ" "DNA" "" "" "0000164674" "00163812" "1" "02405" "02405" "2018-04-12 17:38:11" "" "" "SEQ" "DNA" "" "" "0000164675" "00163813" "1" "02405" "02405" "2018-04-12 17:42:06" "" "" "SEQ" "DNA" "" "" "0000235105" "00234006" "1" "00577" "00577" "2012-12-12 14:14:57" "00577" "2013-01-02 14:23:57" "MAPH" "DNA" "" "" "0000296237" "00295069" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296238" "00295070" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296617" "00295449" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000446611" "00445041" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470137" "00468470" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470138" "00468471" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471518" "00469850" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000156058" "EBP" "0000156058" "OPN1LW" "0000156059" "EBP" "0000156059" "OPN1LW" "0000156060" "EBP" "0000156061" "EBP" "0000156062" "EBP" "0000156063" "EBP" "0000164650" "EBP" "0000164651" "EBP" "0000164652" "EBP" "0000164653" "EBP" "0000164654" "EBP" "0000164655" "EBP" "0000164656" "EBP" "0000164657" "EBP" "0000164658" "EBP" "0000164659" "EBP" "0000164660" "EBP" "0000164661" "EBP" "0000164662" "EBP" "0000164663" "EBP" "0000164664" "EBP" "0000164665" "EBP" "0000164666" "EBP" "0000164667" "EBP" "0000164668" "EBP" "0000164669" "EBP" "0000164670" "EBP" "0000164671" "EBP" "0000164672" "EBP" "0000164673" "EBP" "0000164674" "EBP" "0000164675" "EBP" "0000235105" "PORCN" ## 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 = 86 "{{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}}" "0000001920" "0" "50" "X" "48380398" "48380399" "dup" "0" "00037" "EBP_000008" "g.48380398_48380399dup" "" "" "" "-74+104_-74+105insCC" "" "Germline" "" "" "0" "" "" "g.48522010_48522011dup" "" "VUS" "" "0000001921" "0" "50" "X" "48380399" "48380399" "dup" "0" "00037" "EBP_000007" "g.48380399dup" "" "" "" "-74+96_-74+97insC" "" "Germline" "" "" "0" "" "" "g.48522011dup" "" "VUS" "" "0000006801" "20" "50" "X" "48382174" "48382174" "subst" "0.330986" "00037" "EBP_000006" "g.48382174G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48523786G>T" "" "VUS" "" "0000008878" "10" "50" "X" "48380398" "48380399" "dup" "0" "00037" "EBP_000008" "g.48380398_48380399dup" "" "" "" "-74+104_-74+105insCC" "" "Germline" "" "" "0" "" "" "g.48522010_48522011dup" "" "VUS" "" "0000008879" "0" "50" "X" "48380399" "48380399" "dup" "0" "00037" "EBP_000007" "g.48380399dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48522011dup" "" "VUS" "" "0000008880" "20" "50" "X" "48382174" "48382174" "subst" "0.330986" "00037" "EBP_000006" "g.48382174G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48523786G>T" "" "VUS" "" "0000010947" "0" "50" "X" "48382099" "48382099" "del" "0" "00037" "EBP_000009" "g.48382099del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48523711del" "" "VUS" "" "0000275891" "0" "10" "X" "48386716" "48386716" "subst" "3.46392E-5" "01943" "EBP_000016" "g.48386716C>T" "" "" "" "EBP(NM_006579.2):c.564C>T (p.Y188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48528328C>T" "" "benign" "" "0000333984" "0" "50" "X" "48375632" "48375632" "subst" "0" "01804" "PORCN_000133" "g.48375632A>T" "" "" "" "PORCN(NM_022825.2):c.1202A>T (p.(Tyr401Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48517244A>T" "" "VUS" "" "0000333985" "0" "50" "X" "48382334" "48382334" "subst" "5.59394E-6" "01804" "EBP_000012" "g.48382334G>A" "" "" "" "EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48523946G>A" "" "VUS" "" "0000333987" "0" "50" "X" "48385545" "48385545" "subst" "0.000302095" "01804" "EBP_000014" "g.48385545G>T" "" "" "" "EBP(NM_006579.2):c.341G>T (p.G114V, p.(Gly114Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48527157G>T" "" "VUS" "" "0000357903" "20" "50" "X" "48382174" "48382174" "subst" "0.330986" "00115" "EBP_000001" "g.48382174G>T" "" "personal communication" "" "" "" "Germline" "" "" "0" "" "" "g.48523786G>T" "" "VUS" "" "0000357904" "20" "50" "X" "48382174" "48382174" "subst" "0.330986" "00115" "EBP_000001" "g.48382174G>T" "" "personal communication" "" "" "" "Germline" "" "" "0" "" "" "g.48523786G>T" "" "VUS" "" "0000357905" "21" "99" "X" "48382465" "48382465" "subst" "0" "02405" "EBP_000005" "g.48382465G>C" "" "" "" "" "exon skipping confirmed by minigen assay" "Somatic" "" "" "0" "" "" "g.48524077G>C" "" "pathogenic" "" "0000357906" "0" "90" "X" "48382316" "48382331" "del" "0" "02405" "EBP_000004" "g.48382316_48382331del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48523928_48523943del" "" "pathogenic" "" "0000357907" "0" "77" "X" "48385605" "48385605" "subst" "0" "02405" "EBP_000003" "g.48385605T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527217T>G" "" "likely pathogenic" "" "0000357908" "11" "90" "X" "48386775" "48386778" "dup" "0" "02405" "EBP_000002" "g.48386775_48386778dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48528387_48528390dup" "" "pathogenic" "" "0000368221" "0" "90" "X" "48385644" "48385644" "subst" "5.5961E-6" "02405" "EBP_000018" "g.48385644G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48527256G>A" "" "pathogenic" "" "0000368222" "0" "99" "X" "48385644" "48385644" "subst" "5.5961E-6" "02405" "EBP_000018" "g.48385644G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48527256G>A" "" "likely pathogenic" "" "0000368223" "0" "99" "X" "48385591" "48385591" "subst" "0" "02405" "EBP_000019" "g.48385591G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527203G>A" "" "pathogenic" "" "0000368224" "0" "99" "X" "48385643" "48385643" "del" "0" "02405" "EBP_000020" "g.48385643del" "" "" "" "439delC" "" "De novo" "" "" "0" "" "" "g.48527255del" "" "pathogenic" "" "0000368225" "0" "99" "X" "48385644" "48385644" "subst" "5.5961E-6" "02405" "EBP_000018" "g.48385644G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527256G>A" "" "pathogenic" "" "0000368226" "1" "99" "X" "48385553" "48385553" "subst" "0" "02405" "EBP_000021" "g.48385553T>C" "" "" "" "[349T>C;356T>G]" "" "De novo" "" "" "0" "" "" "g.48527165T>C" "" "likely pathogenic" "" "0000368227" "0" "99" "X" "48385609" "48385609" "subst" "0" "02405" "EBP_000022" "g.48385609G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527221G>A" "" "pathogenic" "" "0000368228" "0" "99" "X" "48382397" "48382397" "subst" "0" "02405" "EBP_000023" "g.48382397G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48524009G>A" "" "pathogenic" "" "0000368229" "0" "99" "X" "48382267" "48382267" "del" "0" "02405" "EBP_000024" "g.48382267del" "" "" "" "108delC" "" "De novo" "" "" "0" "" "" "g.48523879del" "" "pathogenic" "" "0000368230" "0" "99" "X" "48382397" "48382397" "subst" "0" "02405" "EBP_000023" "g.48382397G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48524009G>A" "" "likely pathogenic" "" "0000368231" "0" "99" "X" "48385644" "48385644" "subst" "5.5961E-6" "02405" "EBP_000018" "g.48385644G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527256G>A" "" "pathogenic" "" "0000368232" "0" "99" "X" "48385414" "48385414" "subst" "0" "02405" "EBP_000025" "g.48385414G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48527026G>C" "" "pathogenic" "" "0000368233" "0" "99" "X" "48385643" "48385643" "subst" "0" "02405" "EBP_000026" "g.48385643C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527255C>T" "" "likely pathogenic" "" "0000368234" "0" "55" "X" "48385389" "48385389" "subst" "0" "02405" "EBP_000027" "g.48385389C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527001C>T" "" "VUS" "" "0000368235" "0" "55" "X" "48385655" "48385655" "subst" "0" "02405" "EBP_000028" "g.48385655C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527267C>T" "" "VUS" "" "0000368236" "0" "99" "X" "48386750" "48386750" "subst" "0" "02405" "EBP_000029" "g.48386750C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48528362C>T" "" "likely pathogenic" "" "0000368237" "0" "95" "X" "48382336" "48382336" "del" "0" "02405" "EBP_000030" "g.48382336del" "" "" "" "177del" "" "Somatic" "" "" "0" "" "" "g.48523948del" "" "VUS" "" "0000368238" "0" "55" "X" "48382195" "48382195" "del" "0" "02405" "EBP_000031" "g.48382195del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48523807del" "" "VUS" "" "0000368239" "0" "55" "X" "48386621" "48386621" "subst" "0" "02405" "EBP_000032" "g.48386621G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48528233G>A" "" "VUS" "" "0000368240" "0" "99" "X" "48385403" "48385403" "subst" "0" "02405" "EBP_000033" "g.48385403C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527015C>T" "" "pathogenic" "" "0000368241" "0" "99" "X" "48385568" "48385568" "subst" "0" "02405" "EBP_000034" "g.48385568G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527180G>A" "" "likely pathogenic" "" "0000368242" "0" "99" "X" "48385406" "48385406" "subst" "0" "02405" "EBP_000035" "g.48385406T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48527018T>C" "" "likely pathogenic" "" "0000368243" "0" "99" "X" "48382363" "48382363" "subst" "0" "02405" "EBP_000036" "g.48382363G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48523975G>A" "" "pathogenic" "" "0000368244" "0" "99" "X" "48385673" "48385673" "subst" "0" "02405" "EBP_000037" "g.48385673G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48527285G>C" "" "pathogenic" "" "0000368245" "0" "99" "X" "48385403" "48385403" "subst" "0" "02405" "EBP_000033" "g.48385403C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48527015C>T" "" "pathogenic" "" "0000368246" "0" "55" "X" "48385416" "48385419" "del" "0" "02405" "EBP_000038" "g.48385416_48385419del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48527028_48527031del" "" "VUS" "" "0000368248" "1" "50" "X" "48385560" "48385560" "subst" "0" "02405" "EBP_000039" "g.48385560T>G" "" "" "" "[349T>C;356T>G]" "" "De novo" "" "" "0" "" "" "g.48527172T>G" "" "VUS" "" "0000477853" "0" "99" "X" "48368172" "48387104" "del" "0" "00577" "PORCN_000115" "g.(?_48368172)_(48387104_?)del" "" "{PMID:Patrizi 2012:22414489}" "" "deletion PORCN and EBP +?" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000576217" "0" "50" "X" "48375668" "48375668" "subst" "1.79859E-5" "01943" "EBP_000040" "g.48375668C>A" "" "" "" "PORCN(NM_001282167.1):c.1025C>A (p.T342N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48517280C>A" "" "VUS" "" "0000576218" "0" "30" "X" "48378772" "48378772" "subst" "7.29321E-5" "01804" "EBP_000041" "g.48378772A>C" "" "" "" "PORCN(NM_022825.2):c.1261A>C (p.(Met421Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520384A>C" "" "likely benign" "" "0000576219" "0" "30" "X" "48378851" "48378851" "subst" "8.40459E-5" "01804" "EBP_000042" "g.48378851G>A" "" "" "" "PORCN(NM_022825.2):c.1340G>A (p.(Arg447His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520463G>A" "" "likely benign" "" "0000576220" "0" "30" "X" "48380298" "48380298" "subst" "0" "01804" "EBP_000043" "g.48380298G>C" "" "" "" "EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48521910G>C" "" "likely benign" "" "0000576221" "0" "30" "X" "48382172" "48382172" "subst" "0.000265622" "01943" "EBP_000044" "g.48382172G>A" "" "" "" "EBP(NM_006579.2):c.13G>A (p.A5T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48523784G>A" "" "likely benign" "" "0000576222" "0" "30" "X" "48385545" "48385545" "subst" "0.000302095" "01943" "EBP_000014" "g.48385545G>T" "" "" "" "EBP(NM_006579.2):c.341G>T (p.G114V, p.(Gly114Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48527157G>T" "" "likely benign" "" "0000576223" "0" "30" "X" "48385586" "48385586" "subst" "0.00201937" "01943" "EBP_000015" "g.48385586C>T" "" "" "" "EBP(NM_006579.2):c.382C>T (p.L128=), EBP(NM_006579.3):c.382C>T (p.(Leu128=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48527198C>T" "" "likely benign" "" "0000576224" "0" "50" "X" "48385671" "48385671" "subst" "0" "01943" "EBP_000045" "g.48385671T>G" "" "" "" "EBP(NM_006579.2):c.467T>G (p.V156G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48527283T>G" "" "VUS" "" "0000576225" "0" "30" "X" "48386663" "48386663" "subst" "0.000652338" "01804" "EBP_000046" "g.48386663C>T" "" "" "" "EBP(NM_006579.2):c.511C>T (p.R171C, p.(Arg171Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48528275C>T" "" "likely benign" "" "0000576226" "0" "30" "X" "48386802" "48386802" "subst" "0.000195818" "01943" "EBP_000047" "g.48386802C>T" "" "" "" "EBP(NM_006579.2):c.650C>T (p.T217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48528414C>T" "" "likely benign" "" "0000619619" "0" "30" "X" "48380298" "48380298" "subst" "0" "01943" "EBP_000043" "g.48380298G>C" "" "" "" "EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48521910G>C" "" "likely benign" "" "0000619620" "0" "30" "X" "48386663" "48386663" "subst" "0.000652338" "01943" "EBP_000046" "g.48386663C>T" "" "" "" "EBP(NM_006579.2):c.511C>T (p.R171C, p.(Arg171Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48528275C>T" "" "likely benign" "" "0000652926" "1" "50" "X" "48386663" "48386663" "subst" "0.000652338" "03575" "EBP_000046" "g.48386663C>T" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs141925556}" "Germline" "" "rs141925556" "0" "" "" "g.48528275C>T" "" "VUS" "" "0000652927" "1" "70" "X" "48386784" "48386784" "subst" "0" "03575" "EBP_000049" "g.48386784T>G" "9/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs587783619}" "Germline" "" "rs587783619" "0" "" "" "g.48528396T>G" "" "likely pathogenic" "" "0000653306" "1" "90" "X" "48386632" "48386632" "subst" "0" "03575" "EBP_000048" "g.48386632T>G" "2/2726 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783616}" "Germline" "" "rs587783616" "0" "" "" "g.48528244T>G" "" "pathogenic" "" "0000682470" "0" "30" "X" "48378780" "48378780" "subst" "0" "01943" "EBP_000050" "g.48378780C>T" "" "" "" "PORCN(NM_001282167.1):c.1056C>T (p.Y352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682471" "0" "50" "X" "48386681" "48386681" "subst" "0" "02327" "EBP_000051" "g.48386681G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728958" "0" "50" "X" "48374469" "48374469" "subst" "5.59989E-6" "01943" "EBP_000052" "g.48374469C>T" "" "" "" "PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728959" "0" "30" "X" "48382181" "48382181" "subst" "0" "01943" "EBP_000053" "g.48382181T>C" "" "" "" "EBP(NM_006579.2):c.22T>C (p.L8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728960" "0" "50" "X" "48382197" "48382197" "subst" "0.000108592" "01943" "EBP_000054" "g.48382197C>G" "" "" "" "EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728961" "0" "50" "X" "48382396" "48382396" "subst" "0" "01943" "EBP_000055" "g.48382396C>G" "" "" "" "EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728962" "0" "30" "X" "48386774" "48386774" "subst" "0" "01804" "EBP_000056" "g.48386774G>A" "" "" "" "EBP(NM_006579.2):c.622G>A (p.(Val208Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856644" "0" "50" "X" "48382334" "48382334" "subst" "5.59394E-6" "02325" "EBP_000012" "g.48382334G>A" "" "" "" "EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867404" "0" "70" "X" "48375638" "48375638" "subst" "0" "02327" "EBP_000057" "g.48375638G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000905141" "0" "90" "X" "48385404" "48385404" "subst" "0" "03779" "EBP_000058" "g.48385404G>A" "" "" "" "" "" "Unknown" "" "rs1602090481" "0" "" "" "" "" "pathogenic" "" "0000915726" "0" "50" "X" "48382197" "48382197" "subst" "0.000108592" "02325" "EBP_000054" "g.48382197C>G" "" "" "" "EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915727" "0" "70" "X" "48386620" "48386620" "subst" "0" "02327" "EBP_000059" "g.48386620A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931422" "0" "70" "X" "48385385" "48385385" "subst" "0" "02325" "EBP_000060" "g.48385385T>A" "" "" "" "EBP(NM_006579.3):c.310T>A (p.Y104N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000954964" "1" "50" "X" "48385404" "48385404" "subst" "0" "00006" "EBP_000058" "g.48385404G>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.48527016G>A" "VCV000807598.1" "VUS" "" "0000971121" "0" "30" "X" "48380298" "48380298" "subst" "0" "02326" "EBP_000043" "g.48380298G>C" "" "" "" "EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984711" "0" "50" "X" "48375575" "48375575" "subst" "2.69005E-5" "01804" "EBP_000061" "g.48375575T>C" "" "" "" "PORCN(NM_203475.3):c.1178T>C (p.(Leu393Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984712" "0" "30" "X" "48385586" "48385586" "subst" "0.00201937" "01804" "EBP_000015" "g.48385586C>T" "" "" "" "EBP(NM_006579.2):c.382C>T (p.L128=), EBP(NM_006579.3):c.382C>T (p.(Leu128=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984713" "0" "30" "X" "48386810" "48386810" "subst" "0" "01804" "EBP_000062" "g.48386810G>A" "" "" "" "EBP(NM_006579.3):c.658G>A (p.(Ala220Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006781" "0" "30" "X" "48374469" "48374469" "subst" "5.59989E-6" "01804" "EBP_000052" "g.48374469C>T" "" "" "" "PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013033" "0" "10" "X" "48380407" "48380407" "subst" "0" "03779" "EBP_000063" "g.48380407T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1230513151" "0" "" "" "" "" "benign" "" "0001044357" "0" "50" "X" "48382396" "48382396" "subst" "0" "01804" "EBP_000055" "g.48382396C>G" "" "" "" "EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058224" "0" "90" "X" "48382346" "48382346" "subst" "0" "00006" "EBP_000064" "g.48382346C>T" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PVS1, PS4_mod, PM2_sup, PP1_sup, PP4" "Germline" "" "" "0" "" "" "g.48523958C>T" "" "pathogenic (dominant)" "ACMG" "0001058225" "0" "70" "X" "48385644" "48385644" "subst" "5.5961E-6" "00006" "EBP_000018" "g.48385644G>A" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PS2_mod, PM2_sup, PP1_sup, PP3, PP4" "Germline" "" "" "0" "" "" "g.48527256G>A" "" "likely pathogenic (dominant)" "ACMG" "0001059666" "0" "70" "X" "48382343" "48382343" "subst" "0" "00006" "EBP_000065" "g.48382343C>T" "" "{PMID:Jacob 2025:39706863}" "" "" "" "De novo" "" "" "0" "" "" "g.48523955C>T" "SCV002507184.1" "likely pathogenic (dominant)" "" "0001067673" "0" "50" "X" "48378816" "48378816" "subst" "0" "02325" "EBP_000066" "g.48378816T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067674" "0" "50" "X" "48385581" "48385581" "subst" "0" "02325" "EBP_000067" "g.48385581C>G" "" "" "" "" "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 EBP ## Count = 86 "{{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}}" "0000001920" "00000715" "50" "-74" "103" "-74" "104" "c.-74+103_-74+104dup" "r.(?)" "p.(=)" "1i" "0000001921" "00000715" "50" "-74" "104" "-74" "104" "c.-74+104dup" "r.(?)" "p.(=)" "1i" "0000006801" "00000715" "50" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(=)" "" "0000008878" "00000715" "50" "-74" "103" "-74" "104" "c.-74+103_-74+104dup" "r.(?)" "p.(=)" "1i" "0000008879" "00000715" "50" "-74" "104" "-74" "104" "c.-74+104dup" "r.(=)" "p.(=)" "" "0000008880" "00000715" "50" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(=)" "" "0000010947" "00000715" "50" "-61" "0" "-61" "0" "c.-61del" "r.(?)" "p.(=)" "" "0000275891" "00000715" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Tyr188=)" "" "0000333984" "00000715" "50" "-4737" "0" "-4737" "0" "c.-4737A>T" "r.(?)" "p.(=)" "" "0000333985" "00000715" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "0000333987" "00000715" "50" "341" "0" "341" "0" "c.341G>T" "r.(?)" "p.(Gly114Val)" "" "0000357903" "00000715" "50" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(=)" "1" "0000357904" "00000715" "50" "15" "0" "15" "0" "c.15G>T" "r.(?)" "p.(=)" "1" "0000357905" "00000715" "99" "301" "5" "301" "5" "c.301+5G>C" "r.spl" "p.?" "2i" "0000357906" "00000715" "90" "157" "0" "172" "0" "c.157_172del" "r.(?)" "p.Ala53Trpfs*21" "2" "0000357907" "00000715" "77" "401" "0" "401" "0" "c.401T>G" "r.(?)" "p.Leu134Arg" "4" "0000357908" "00000715" "90" "623" "0" "626" "0" "c.623_626dup" "r.(?)" "p.Lys209Asnfs" "5" "0000368221" "00000715" "90" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "" "0000368222" "00000715" "99" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "4" "0000368223" "00000715" "99" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Trp129*)" "4" "0000368224" "00000715" "99" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Arg147Alafs*21)" "4" "0000368225" "00000715" "99" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "4" "0000368226" "00000715" "99" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Phe117Leu)" "4" "0000368227" "00000715" "99" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.(Trp135*)" "4" "0000368228" "00000715" "99" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "2" "0000368229" "00000715" "99" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Ser37Leufs*6)" "2" "0000368230" "00000715" "99" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Glu80Lys)" "2" "0000368231" "00000715" "99" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "4" "0000368232" "00000715" "99" "338" "1" "338" "1" "c.338+1G>C" "r.spl" "p.?" "3i" "0000368233" "00000715" "99" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "4" "0000368234" "00000715" "55" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Ala105Val)" "3" "0000368235" "00000715" "55" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Gln151*)" "4" "0000368236" "00000715" "99" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Pro200Ser)" "5" "0000368237" "00000715" "95" "177" "0" "177" "0" "c.177del" "r.(?)" "p.(Thr60Leufs*19)" "2" "0000368238" "00000715" "55" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Trp12Cysfs*5)" "2" "0000368239" "00000715" "55" "470" "-1" "470" "-1" "c.470-1G>A" "r.spl" "p.?" "4i" "0000368240" "00000715" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000368241" "00000715" "99" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "4" "0000368242" "00000715" "99" "331" "0" "331" "0" "c.331T>C" "r.(?)" "p.(Tyr111His)" "3" "0000368243" "00000715" "99" "204" "0" "204" "0" "c.204G>A" "r.(?)" "p.(Trp68*)" "" "0000368244" "00000715" "99" "469" "0" "469" "0" "c.469G>C" "r.(?)" "p.(Gly157Arg)" "4" "0000368245" "00000715" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110*)" "3" "0000368246" "00000715" "55" "338" "3" "338" "6" "c.338+3_338+6del" "r.spl" "p.?" "3" "0000368248" "00000715" "50" "356" "0" "356" "0" "c.356T>G" "r.(?)" "p.(Val119Gly)" "4" "0000477853" "00000715" "50" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_5_" "0000576217" "00000715" "50" "-4701" "0" "-4701" "0" "c.-4701C>A" "r.(?)" "p.(=)" "" "0000576218" "00000715" "30" "-1597" "0" "-1597" "0" "c.-1597A>C" "r.(?)" "p.(=)" "" "0000576219" "00000715" "30" "-1518" "0" "-1518" "0" "c.-1518G>A" "r.(?)" "p.(=)" "" "0000576220" "00000715" "30" "-74" "3" "-74" "3" "c.-74+3G>C" "r.spl?" "p.?" "" "0000576221" "00000715" "30" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Ala5Thr)" "" "0000576222" "00000715" "30" "341" "0" "341" "0" "c.341G>T" "r.(?)" "p.(Gly114Val)" "" "0000576223" "00000715" "30" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Leu128=)" "" "0000576224" "00000715" "50" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Val156Gly)" "" "0000576225" "00000715" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000576226" "00000715" "30" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Thr217Met)" "" "0000619619" "00000715" "30" "-74" "3" "-74" "3" "c.-74+3G>C" "r.spl?" "p.?" "" "0000619620" "00000715" "30" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000652926" "00000715" "50" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Cys)" "" "0000652927" "00000715" "70" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Leu211Arg)" "" "0000653306" "00000715" "90" "480" "0" "480" "0" "c.480T>G" "r.(?)" "p.(Tyr160*)" "" "0000682470" "00000715" "30" "-1589" "0" "-1589" "0" "c.-1589C>T" "r.(?)" "p.(=)" "" "0000682471" "00000715" "50" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Gly177Arg)" "" "0000728958" "00000715" "50" "-5900" "0" "-5900" "0" "c.-5900C>T" "r.(?)" "p.(=)" "" "0000728959" "00000715" "30" "22" "0" "22" "0" "c.22T>C" "r.(?)" "p.(Leu8=)" "" "0000728960" "00000715" "50" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Pro13Arg)" "" "0000728961" "00000715" "50" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Ile79Met)" "" "0000728962" "00000715" "30" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Val208Met)" "" "0000856644" "00000715" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "0000867404" "00000715" "70" "-4731" "0" "-4731" "0" "c.-4731G>T" "r.(?)" "p.(=)" "" "0000905141" "00000715" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000915726" "00000715" "50" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Pro13Arg)" "" "0000915727" "00000715" "70" "470" "-2" "470" "-2" "c.470-2A>C" "r.spl?" "p.?" "" "0000931422" "00000715" "70" "310" "0" "310" "0" "c.310T>A" "r.(?)" "p.(Tyr104Asn)" "" "0000954964" "00000715" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000971121" "00000715" "30" "-74" "3" "-74" "3" "c.-74+3G>C" "r.spl?" "p.?" "" "0000984711" "00000715" "50" "-4794" "0" "-4794" "0" "c.-4794T>C" "r.(?)" "p.(=)" "" "0000984712" "00000715" "30" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Leu128=)" "" "0000984713" "00000715" "30" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Ala220Thr)" "" "0001006781" "00000715" "30" "-5900" "0" "-5900" "0" "c.-5900C>T" "r.(?)" "p.(=)" "" "0001013033" "00000715" "10" "-74" "112" "-74" "112" "c.-74+112T>G" "r.(?)" "p.(?)" "" "0001044357" "00000715" "50" "237" "0" "237" "0" "c.237C>G" "r.(?)" "p.(Ile79Met)" "" "0001058224" "00000715" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Ter)" "" "0001058225" "00000715" "70" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "" "0001059666" "00000715" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Trp)" "" "0001067673" "00000715" "50" "-1553" "0" "-1553" "0" "c.-1553T>G" "r.(?)" "p.(=)" "" "0001067674" "00000715" "50" "377" "0" "377" "0" "c.377C>G" "r.(?)" "p.(Ala126Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001920" "0000000209" "0000001921" "0000000209" "0000006801" "0000000210" "0000008878" "0000000210" "0000008879" "0000000210" "0000008880" "0000000210" "0000010947" "0000156058" "0000357903" "0000156059" "0000357904" "0000156060" "0000357905" "0000156061" "0000357906" "0000156062" "0000357907" "0000156063" "0000357908" "0000164650" "0000368221" "0000164651" "0000368222" "0000164652" "0000368223" "0000164653" "0000368224" "0000164654" "0000368225" "0000164655" "0000368226" "0000164655" "0000368248" "0000164656" "0000368227" "0000164657" "0000368228" "0000164658" "0000368229" "0000164659" "0000368230" "0000164660" "0000368231" "0000164661" "0000368232" "0000164662" "0000368233" "0000164663" "0000368234" "0000164664" "0000368235" "0000164665" "0000368236" "0000164666" "0000368237" "0000164667" "0000368238" "0000164668" "0000368239" "0000164669" "0000368240" "0000164670" "0000368241" "0000164671" "0000368242" "0000164672" "0000368243" "0000164673" "0000368244" "0000164674" "0000368245" "0000164675" "0000368246" "0000235105" "0000477853" "0000296237" "0000652926" "0000296238" "0000652927" "0000296617" "0000653306" "0000446611" "0000954964" "0000470137" "0001058224" "0000470138" "0001058225" "0000471518" "0001059666"