### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBLN5) # 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}}" "FBLN5" "fibulin 5" "14" "q31" "unknown" "LRG_364" "UD_132085425659" "" "http://www.LOVD.nl/FBLN5" "" "1" "3602" "10516" "604580" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FBLN5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-10-14 15:53:22" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00007759" "FBLN5" "fibulin 5" "001" "NM_006329.3" "" "NP_006320.2" "" "" "" "-473" "2160" "1347" "92414046" "92335755" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00347" "ARMD" "macular degeneration, age-related (ARMD)" "" "" "" "" "" "00006" "2014-03-13 09:53:17" "00006" "2015-12-08 23:59:30" "01732" "ARCL1A" "cutis laxa, autosomal recessive, type IA (ARCL-1A)" "AR" "219100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02800" "HNARMD" "Neuropathy, hereditary, with or without age-related macular degeneration" "AD" "608895" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03646" "ADCL2" "cutis laxa, autosomal dominant, type 2 (ADCL-2)" "AD" "614434" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FBLN5" "00347" "FBLN5" "01732" "FBLN5" "02800" "FBLN5" "03646" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00081474" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "yes" "Lebanon" "" "0" "" "" "" "" "00081475" "" "" "" "1" "" "00735" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "F" "yes" "Algeria" "" "0" "" "" "" "" "00226181" "" "" "" "135" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00226182" "" "" "" "50" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00228154" "" "" "" "131" "" "03217" "submitted" "analysis 347 cases" "" "" "India" "" "0" "" "" "" "cases" "00235387" "" "" "" "44" "" "03217" "submitted" "analysis 347 cases" "" "" "India" "" "0" "" "" "" "cases" "00235389" "" "" "" "104" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00235390" "" "" "" "180" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00235393" "" "" "" "139" "" "03217" "submitted" "analysis 346 cases" "" "" "India" "" "0" "" "" "" "cases" "00235394" "" "" "" "194" "" "03217" "submitted" "analysis 346 cases" "" "" "India" "" "0" "" "" "" "cases" "00235395" "" "" "" "176" "" "03217" "submitted" "analysis 354 cases" "" "" "India" "" "0" "" "" "" "cases" "00235396" "" "" "" "106" "" "03217" "submitted" "analysis 354 cases" "" "" "India" "" "0" "" "" "" "cases" "00235397" "" "" "" "147" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00235398" "" "" "" "86" "" "03217" "submitted" "analysis 302 control individuals" "" "" "India" "" "0" "" "" "" "controls" "00332049" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat187" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00376213" "" "" "" "6" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376214" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376215" "" "" "" "2" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376216" "" "" "" "2" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376217" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376218" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376219" "" "" "" "2" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376220" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376221" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376222" "" "" "" "4" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376223" "" "" "" "9" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376224" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376225" "" "" "" "8" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "" "" "" "" "0" "" "" "" "" "00376226" "" "" "" "1" "" "00000" "{PMID:Jacobson 2008:18463160}" "" "M" "" "" "" "0" "" "" "" "" "00446936" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-467" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00081474" "01732" "00081475" "01732" "00226181" "00000" "00226182" "00000" "00228154" "00198" "00235387" "00198" "00235389" "00000" "00235390" "00000" "00235393" "00198" "00235394" "00198" "00235395" "00198" "00235396" "00198" "00235397" "00000" "00235398" "00000" "00332049" "04214" "00362007" "04214" "00376213" "04214" "00376214" "04214" "00376215" "04214" "00376216" "04214" "00376217" "04214" "00376218" "04214" "00376219" "04214" "00376220" "04214" "00376221" "04214" "00376222" "04214" "00376223" "04214" "00376224" "04214" "00376225" "04214" "00376226" "04214" "00446936" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00347, 01732, 02800, 03646, 04214 ## Count = 23 "{{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}}" "0000061059" "01732" "00081474" "00735" "Familial, autosomal recessive" "11m" "generalized congenital cutis laxa with facial involvement, severe emphysema, inguinal hernias, peripheral pulmonary artery stenosis, pyloric stenosis, mild aortic and tricuspid valve regurgitation" "0m" "" "" "" "" "" "" "" "" "" "" "0000061060" "01732" "00081475" "00735" "Familial, autosomal recessive" "1y7m" "congenital cutis laxa (with facial involvement), severe emphysema, normal cardiac status on echocardiography, high broad forehead, low broad nasal bridge, beaked nose, larage dysplastic ears, sagging cheeks, everted lower lip, photophobia, normal mental status, hypotonia" "0m" "" "" "" "" "" "" "" "" "" "" "0000175647" "00198" "00228154" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000175648" "00198" "00235387" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000175656" "00198" "00235393" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000175657" "00198" "00235394" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000175658" "00198" "00235395" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000175659" "00198" "00235396" "03217" "Unknown" "" "pseudoexfoliation (HP:0012627)" "" "" "" "" "" "" "" "" "" "pseudoexfoliation" "" "0000250240" "04214" "00332049" "00000" "Familial, autosomal dominant" "78y" "reduced visual acuity; EOG normal" "77y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000271423" "04214" "00376213" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271424" "04214" "00376214" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271425" "04214" "00376215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271426" "04214" "00376216" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271427" "04214" "00376218" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271428" "04214" "00376219" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271429" "04214" "00376220" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271430" "04214" "00376221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271431" "04214" "00376222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271432" "04214" "00376223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271433" "04214" "00376225" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" "" "0000271434" "04214" "00376226" "00000" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336135" "00198" "00446936" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081604" "00081474" "1" "00735" "00735" "2012-06-18 13:23:44" "" "" "SEQ" "DNA" "" "" "0000081605" "00081475" "1" "00735" "00735" "2012-06-18 13:16:42" "" "" "SEQ" "DNA" "" "" "0000227257" "00226182" "1" "03217" "03217" "2019-03-01 15:41:27" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000229242" "00228154" "1" "03217" "03217" "2019-03-19 09:06:55" "" "" "SEQ" "DNA" "" "" "0000236490" "00226181" "1" "03217" "03217" "2019-05-24 13:39:21" "" "" "?" "DNA" "" "" "0000236491" "00235387" "1" "00006" "00006" "2019-05-24 13:55:25" "" "" "SEQ" "DNA" "" "" "0000236493" "00235389" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236494" "00235390" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236497" "00235393" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236498" "00235394" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236499" "00235395" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236500" "00235396" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236501" "00235397" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000236502" "00235398" "1" "03217" "03217" "2019-05-24 13:55:08" "" "" "SEQ" "DNA" "Peripheral blood" "" "0000333268" "00332049" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000377409" "00376213" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377410" "00376214" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377411" "00376215" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377412" "00376216" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377413" "00376217" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377414" "00376218" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377415" "00376219" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377416" "00376220" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377417" "00376221" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377418" "00376222" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377419" "00376223" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377420" "00376224" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377421" "00376225" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC; SEQ" "DNA" "" "" "0000377422" "00376226" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "?" "DNA" "" "Methods described in Aleman 2007, Jacobson 2006, Jacobson 1987 and Roman 2007" "0000448513" "00446936" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000081604" "FBLN5" "0000081605" "FBLN5" "0000227257" "FBLN5" "0000236490" "FBLN5" "0000236491" "FBLN5" "0000236493" "FBLN5" "0000236494" "FBLN5" "0000236497" "FBLN5" "0000236498" "FBLN5" "0000236499" "FBLN5" "0000236500" "FBLN5" "0000236501" "FBLN5" "0000236502" "FBLN5" "0000333268" "FBLN5" "0000377409" "FBLN5" "0000377410" "FBLN5" "0000377411" "FBLN5" "0000377412" "FBLN5" "0000377413" "FBLN5" "0000377414" "FBLN5" "0000377415" "FBLN5" "0000377416" "FBLN5" "0000377417" "FBLN5" "0000377418" "FBLN5" "0000377419" "FBLN5" "0000377420" "FBLN5" "0000377421" "FBLN5" "0000377422" "MYO7A" ## 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 = 78 "{{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}}" "0000132273" "3" "90" "14" "92353627" "92353627" "subst" "0" "00735" "FBLN5_000002" "g.92353627A>G" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "yes" "" "0" "" "" "g.91887283A>G" "" "pathogenic" "" "0000132274" "3" "90" "14" "92343845" "92343845" "subst" "0" "00735" "FBLN5_000001" "g.92343845C>A" "" "{PMID:Callewaert 2013:22829427}, {DOI:Callewaert 2013:10.1002/humu.22165}" "" "" "not found in 100 controls" "Germline" "yes" "" "0" "" "" "g.91877501C>A" "" "pathogenic" "" "0000247233" "0" "10" "14" "92347680" "92347680" "subst" "0.76346" "02330" "FBLN5_000005" "g.92347680A>G" "" "" "" "FBLN5(NM_006329.4):c.945T>C (p.I315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91881336A>G" "" "benign" "" "0000247298" "0" "50" "14" "92403446" "92403446" "subst" "0.000110753" "02330" "FBLN5_000010" "g.92403446A>G" "" "" "" "FBLN5(NM_006329.4):c.224T>C (p.V75A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91937102A>G" "" "VUS" "" "0000248295" "0" "10" "14" "92347680" "92347680" "subst" "0.76346" "02325" "FBLN5_000005" "g.92347680A>G" "" "" "" "FBLN5(NM_006329.4):c.945T>C (p.I315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91881336A>G" "" "benign" "" "0000250030" "0" "10" "14" "92347680" "92347680" "subst" "0.76346" "02329" "FBLN5_000005" "g.92347680A>G" "" "" "" "FBLN5(NM_006329.4):c.945T>C (p.I315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91881336A>G" "" "benign" "" "0000276674" "0" "30" "14" "92413585" "92413585" "subst" "4.07222E-6" "02330" "FBLN5_000011" "g.92413585G>A" "" "" "" "FBLN5(NM_006329.4):c.-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91947241G>A" "" "likely benign" "" "0000276675" "0" "30" "14" "92336724" "92336724" "subst" "0.000130236" "02330" "FBLN5_000003" "g.92336724C>T" "" "" "" "FBLN5(NM_006329.4):c.1191G>A (p.T397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91870380C>T" "" "likely benign" "" "0000276676" "0" "30" "14" "92403294" "92403294" "subst" "0.00185404" "02330" "FBLN5_000008" "g.92403294C>T" "" "" "" "FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91936950C>T" "" "likely benign" "" "0000276677" "0" "10" "14" "92361279" "92361279" "subst" "0.00472902" "02330" "FBLN5_000007" "g.92361279C>G" "" "" "" "FBLN5(NM_006329.3):c.502+15G>C, FBLN5(NM_006329.4):c.502+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91894935C>G" "" "benign" "" "0000283012" "0" "10" "14" "92347623" "92347623" "subst" "0.00487244" "02329" "FBLN5_000004" "g.92347623C>T" "" "" "" "FBLN5(NM_006329.4):c.989+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91881279C>T" "" "benign" "" "0000283852" "0" "30" "14" "92403402" "92403402" "subst" "0.000389712" "02326" "FBLN5_000009" "g.92403402C>T" "" "" "" "FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S, p.(Gly90Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91937058C>T" "" "likely benign" "" "0000283853" "0" "10" "14" "92361279" "92361279" "subst" "0.00472902" "02326" "FBLN5_000007" "g.92361279C>G" "" "" "" "FBLN5(NM_006329.3):c.502+15G>C, FBLN5(NM_006329.4):c.502+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91894935C>G" "" "benign" "" "0000283854" "0" "50" "14" "92349361" "92349361" "subst" "0.000268114" "02326" "FBLN5_000006" "g.92349361C>T" "" "" "" "FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91883017C>T" "" "VUS" "" "0000340825" "0" "10" "14" "92347680" "92347680" "subst" "0.76346" "02327" "FBLN5_000005" "g.92347680A>G" "" "" "" "FBLN5(NM_006329.4):c.945T>C (p.I315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91881336A>G" "" "benign" "" "0000341397" "0" "90" "14" "92343929" "92343929" "subst" "3.24913E-5" "02327" "FBLN5_000012" "g.92343929C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91877585C>T" "" "pathogenic" "" "0000350652" "0" "50" "14" "92403446" "92403446" "subst" "0.000110753" "02327" "FBLN5_000010" "g.92403446A>G" "" "" "" "FBLN5(NM_006329.4):c.224T>C (p.V75A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91937102A>G" "" "VUS" "" "0000470392" "0" "50" "14" "92413987" "92413987" "subst" "0" "03217" "FBLN5_000013" "g.92413987G>A" "131/347 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08)" "Germline" "" "rs7149187" "0" "" "" "g.91947643G>A" "" "VUS" "" "0000480454" "0" "50" "14" "92413987" "92413987" "subst" "0" "03217" "FBLN5_000013" "g.92413987G>A" "135/302 controls" "submitted" "" "" "" "Germline" "" "rs7149187" "0" "" "" "g.91947643G>A" "" "VUS" "" "0000480455" "3" "50" "14" "92413987" "92413987" "subst" "0" "03217" "FBLN5_000013" "g.92413987G>A" "50/302 controls" "submitted" "" "" "" "Germline" "" "rs7149187" "0" "" "" "g.91947643G>A" "" "VUS" "" "0000480456" "3" "50" "14" "92413987" "92413987" "subst" "0" "03217" "FBLN5_000013" "g.92413987G>A" "44/347 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.03) and pseudoexfoliation glaucoma (P-value 0.08)" "Germline" "" "" "0" "" "" "g.91947643G>A" "" "VUS" "" "0000480457" "0" "50" "14" "92347680" "92347680" "subst" "0.76346" "03217" "FBLN5_000005" "g.92347680A>G" "104/302 controls" "submitted" "" "g.91870431T>C" "" "Germline" "" "rs2430347" "0" "" "" "g.91881336A>G" "" "VUS" "" "0000480458" "3" "50" "14" "92347680" "92347680" "subst" "0.76346" "03217" "FBLN5_000005" "g.92347680A>G" "180/302 controls" "submitted" "" "" "" "Germline" "" "rs2430347" "0" "" "" "g.91881336A>G" "" "VUS" "" "0000480461" "0" "50" "14" "92347680" "92347680" "subst" "0.76346" "03217" "FBLN5_000005" "g.92347680A>G" "139/346 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.18) and pseudoexfoliation syndrome (P-value 0.21)" "Germline" "" "rs2430347" "0" "" "" "g.91881336A>G" "" "VUS" "" "0000480462" "3" "50" "14" "92347680" "92347680" "subst" "0.76346" "03217" "FBLN5_000005" "g.92347680A>G" "194/346 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.18) and pseudoexfoliation syndrome (P-value 0.21)" "Germline" "" "rs2430347" "0" "" "" "g.91881336A>G" "" "VUS" "" "0000480463" "0" "50" "14" "92336775" "92336775" "subst" "0.493647" "03217" "FBLN5_000014" "g.92336775T>C" "176/354 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.02) and pseudoexfoliation glaucoma (P-value 0.16)" "Germline" "" "rs929608" "0" "" "" "g.91870431T>C" "" "VUS" "" "0000480464" "3" "50" "14" "92336775" "92336775" "subst" "0.493647" "03217" "FBLN5_000014" "g.92336775T>C" "106/354 cases" "submitted" "" "" "associated with pseudoexfoliation (P-value 0.01), pseudoexfoliation syndrome (P-value 0.02) and pseudoexfoliation glaucoma (P-value 0.16)" "Germline" "" "rs929608" "0" "" "" "g.91870431T>C" "" "VUS" "" "0000480466" "0" "50" "14" "92336775" "92336775" "subst" "0.493647" "03217" "FBLN5_000014" "g.92336775T>C" "147/302 controls" "submitted" "" "" "" "Germline" "" "rs929608" "0" "" "" "g.91870431T>C" "" "VUS" "" "0000480467" "3" "50" "14" "92336775" "92336775" "subst" "0.493647" "03217" "FBLN5_000014" "g.92336775T>C" "86/302 controls" "submitted" "" "" "" "Germline" "" "rs929608" "0" "" "" "g.91870431T>C" "" "VUS" "" "0000553365" "0" "10" "14" "92336574" "92336574" "subst" "0.000349318" "02330" "FBLN5_000015" "g.92336574T>C" "" "" "" "FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91870230T>C" "" "benign" "" "0000553366" "0" "10" "14" "92343894" "92343894" "subst" "0.016778" "02330" "FBLN5_000016" "g.92343894G>A" "" "" "" "FBLN5(NM_006329.4):c.1122C>T (p.Y374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91877550G>A" "" "benign" "" "0000553367" "0" "10" "14" "92343894" "92343894" "subst" "0.016778" "02329" "FBLN5_000016" "g.92343894G>A" "" "" "" "FBLN5(NM_006329.4):c.1122C>T (p.Y374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91877550G>A" "" "benign" "" "0000553368" "0" "10" "14" "92344300" "92344300" "subst" "0" "02325" "FBLN5_000017" "g.92344300A>G" "" "" "" "FBLN5(NM_006329.4):c.990-274T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91877956A>G" "" "benign" "" "0000553370" "0" "50" "14" "92403294" "92403294" "subst" "0.00185404" "02325" "FBLN5_000008" "g.92403294C>T" "" "" "" "FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91936950C>T" "" "VUS" "" "0000553371" "0" "50" "14" "92403402" "92403402" "subst" "0.000389712" "02330" "FBLN5_000009" "g.92403402C>T" "" "" "" "FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S, p.(Gly90Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91937058C>T" "" "VUS" "" "0000553372" "0" "50" "14" "92403402" "92403402" "subst" "0.000389712" "01804" "FBLN5_000009" "g.92403402C>T" "" "" "" "FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S, p.(Gly90Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91937058C>T" "" "VUS" "" "0000553373" "0" "50" "14" "92403402" "92403402" "subst" "0.000389712" "02325" "FBLN5_000009" "g.92403402C>T" "" "" "" "FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S, p.(Gly90Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91937058C>T" "" "VUS" "" "0000615133" "0" "50" "14" "92353600" "92353600" "subst" "2.43671E-5" "02327" "FBLN5_000019" "g.92353600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91887256C>T" "" "VUS" "" "0000680078" "0" "50" "14" "92349361" "92349361" "subst" "0.000268114" "02325" "FBLN5_000006" "g.92349361C>T" "" "" "" "FBLN5(NM_006329.3):c.799G>A (p.G267S), FBLN5(NM_006329.4):c.799G>A (p.G267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680079" "0" "30" "14" "92403294" "92403294" "subst" "0.00185404" "01804" "FBLN5_000008" "g.92403294C>T" "" "" "" "FBLN5(NM_006329.3):c.376G>A (p.(Val126Met)), FBLN5(NM_006329.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724916" "0" "50" "14" "92343964" "92343964" "subst" "0" "02330" "FBLN5_000021" "g.92343964C>T" "" "" "" "FBLN5(NM_006329.4):c.1052G>A (p.R351Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724917" "0" "30" "14" "92353625" "92353625" "subst" "4.06319E-5" "01943" "FBLN5_000022" "g.92353625G>A" "" "" "" "FBLN5(NM_006329.3):c.651C>T (p.C217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724918" "0" "50" "14" "92403402" "92403402" "subst" "0.000389712" "01943" "FBLN5_000009" "g.92403402C>T" "" "" "" "FBLN5(NM_006329.3):c.268G>A (p.G90S), FBLN5(NM_006329.4):c.268G>A (p.G90S, p.(Gly90Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730692" "1" "90" "14" "92343923" "92343923" "subst" "3.65512E-5" "00000" "FBLN5_000020" "g.92343923T>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.91877579T>C" "" "pathogenic (dominant)" "" "0000763781" "0" "90" "14" "92403294" "92403294" "subst" "0.00185404" "00000" "FBLN5_000008" "g.92403294C>T" "" "{PMID:Duvvari 2016:27007659}" "" "376C>T" "" "Germline" "" "rs61734479" "0" "" "" "g.91936950C>T" "" "likely pathogenic" "" "0000789729" "0" "30" "14" "92413747" "92413747" "del" "0" "00000" "FBLN5_000032" "g.92413747del" "found in 6/214 cases and 4/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "5UTR-174delG" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789730" "0" "30" "14" "92413712" "92413712" "subst" "0" "00000" "FBLN5_000031" "g.92413712G>C" "found in 1/214 cases and 1/182 controls" "{PMID:Barbazetto 2007:18161617}" "" "5UTR-139C>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789731" "0" "30" "14" "92409333" "92409333" "subst" "0.0608823" "00000" "FBLN5_000030" "g.92409333T>C" "found in 26/213 cases and 22/183 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS1-28A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789732" "0" "30" "14" "92409278" "92409278" "subst" "0" "00000" "FBLN5_000029" "g.92409278A>T" "found in 2/213 cases and 1/183 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS1+26T>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789733" "0" "30" "14" "92406884" "92406884" "subst" "0.000163127" "00000" "FBLN5_000028" "g.92406884A>G" "found in 0/214 cases and 1/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS3+25T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789734" "0" "30" "14" "92406838" "92406838" "subst" "0" "00000" "FBLN5_000027" "g.92406838G>A" "found in 1/214 cases and 0/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS3+71C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789735" "0" "30" "14" "92403577" "92403577" "subst" "0.000865059" "00000" "FBLN5_000026" "g.92403577G>A" "found in 2/214 cases and 2/183 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS3-32C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789736" "0" "30" "14" "92361280" "92361280" "subst" "0" "00000" "FBLN5_000025" "g.92361280C>G" "found in 1/212 cases and 1/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS5+14G>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789737" "0" "90" "14" "92357580" "92357580" "subst" "0.000268029" "00000" "FBLN5_000024" "g.92357580C>T" "found in 1/214 cases and 0/183 controls" "{PMID:Barbazetto 2007:18161617}" "" "604G>A (G202R)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000789738" "0" "30" "14" "92353664" "92353664" "subst" "0.00119469" "00000" "FBLN5_000018" "g.92353664A>G" "found in 4/213 cases and 5/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS6-8T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789739" "0" "30" "14" "92347680" "92347680" "subst" "0.76346" "00000" "FBLN5_000005" "g.92347680A>G" "found in 92/212 cases and 72/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "945T>C (I315I)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789740" "0" "30" "14" "92347823" "92347823" "subst" "0" "00000" "FBLN5_000023" "g.92347823G>A" "found in 0/213 cases and 1/184 controls" "{PMID:Barbazetto 2007:18161617}" "" "IVS8-61C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789741" "0" "30" "14" "92343894" "92343894" "subst" "0.016778" "00000" "FBLN5_000016" "g.92343894G>A" "found in 8/213 cases and 9/183 controls" "{PMID:Barbazetto 2007:18161617}" "" "1122C>T (Y374Y)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000789742" "0" "90" "11" "0" "0" "" "0" "00000" "DRD4_000002" "g.?" "" "{PMID:Jacobson 2008:18463160}" "" "Glu495X" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000853921" "0" "30" "14" "92336574" "92336574" "subst" "0.000349318" "02326" "FBLN5_000015" "g.92336574T>C" "" "" "" "FBLN5(NM_006329.3):c.1341A>G (p.P447=), FBLN5(NM_006329.4):c.1341A>G (p.P447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863712" "0" "30" "14" "92336640" "92336640" "subst" "2.4372E-5" "02326" "FBLN5_000033" "g.92336640G>A" "" "" "" "FBLN5(NM_006329.3):c.1275C>T (p.V425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891935" "0" "10" "14" "92347623" "92347623" "subst" "0.00487244" "02330" "FBLN5_000004" "g.92347623C>T" "" "" "" "FBLN5(NM_006329.4):c.989+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891936" "0" "50" "14" "92347676" "92347676" "subst" "0" "02325" "FBLN5_000034" "g.92347676G>T" "" "" "" "FBLN5(NM_006329.4):c.949C>A (p.P317T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891937" "0" "10" "14" "92347775" "92347775" "subst" "0.00332829" "02330" "FBLN5_000035" "g.92347775G>A" "" "" "" "FBLN5(NM_006329.3):c.863-13C>T, FBLN5(NM_006329.4):c.863-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914249" "0" "10" "14" "92347775" "92347775" "subst" "0.00332829" "02326" "FBLN5_000035" "g.92347775G>A" "" "" "" "FBLN5(NM_006329.3):c.863-13C>T, FBLN5(NM_006329.4):c.863-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930347" "0" "50" "14" "92403522" "92403522" "subst" "4.10213E-6" "02330" "FBLN5_000036" "g.92403522G>T" "" "" "" "FBLN5(NM_001384160.1):c.148C>A (p.P50T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950298" "0" "50" "14" "92343904" "92343904" "subst" "1.62463E-5" "02330" "FBLN5_000037" "g.92343904G>A" "" "" "" "FBLN5(NM_001384161.1):c.944C>T (p.T315M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950299" "0" "30" "14" "92347626" "92347626" "dup" "0" "02330" "FBLN5_000038" "g.92347626dup" "" "" "" "FBLN5(NM_001384161.1):c.821+11dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950300" "0" "50" "14" "92403413" "92403424" "del" "0" "02330" "FBLN5_000039" "g.92403413_92403424del" "" "" "" "FBLN5(NM_001384161.1):c.87_98delGACCCCCTACTC (p.T30_S33del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000958414" "1" "50" "14" "92349361" "92349361" "subst" "0.000268114" "00006" "FBLN5_000006" "g.92349361C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.91883017C>T" "" "VUS" "ACMG" "0000981062" "0" "50" "14" "92361295" "92361295" "subst" "5.68666E-5" "01804" "FBLN5_000040" "g.92361295T>G" "" "" "" "FBLN5(NM_006329.4):c.501A>C (p.(Leu167Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981063" "0" "30" "14" "92403282" "92403282" "subst" "0" "01804" "FBLN5_000041" "g.92403282G>A" "" "" "" "FBLN5(NM_006329.4):c.379+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981064" "0" "30" "14" "92409681" "92409681" "del" "0" "01804" "FBLN5_000042" "g.92409681del" "" "" "" "FBLN5(NM_006329.4):c.18-373del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001199" "0" "50" "14" "92343923" "92343923" "subst" "3.65512E-5" "01804" "FBLN5_000020" "g.92343923T>C" "" "" "" "FBLN5(NM_006329.3):c.1093A>G (p.(Ile365Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026411" "0" "30" "14" "92347674" "92347674" "subst" "0" "02330" "FBLN5_000043" "g.92347674G>A" "" "" "" "FBLN5(NM_001384161.1):c.783C>T (p.P261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040151" "0" "50" "14" "92336725" "92336725" "subst" "3.25622E-5" "01804" "FBLN5_000044" "g.92336725G>A" "" "" "" "FBLN5(NM_006329.4):c.1190C>T (p.(Thr397Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040152" "0" "50" "14" "92403509" "92403509" "subst" "8.20405E-6" "01804" "FBLN5_000045" "g.92403509C>T" "" "" "" "FBLN5(NM_006329.4):c.161G>A (p.(Arg54Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040153" "0" "50" "14" "92412882" "92412885" "del" "0" "01804" "FBLN5_000046" "g.92412882_92412885del" "" "" "" "FBLN5(NM_006329.4):c.17+691_17+694del" "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 FBLN5 ## Count = 78 "{{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}}" "0000132273" "00007759" "90" "649" "0" "649" "0" "c.649T>C" "r.(?)" "p.(Cys217Arg)" "7" "0000132274" "00007759" "90" "1171" "0" "1171" "0" "c.1171G>T" "r.(?)" "p.(Glu391*)" "10" "0000247233" "00007759" "10" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(Ile315=)" "" "0000247298" "00007759" "50" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Val75Ala)" "" "0000248295" "00007759" "10" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(Ile315=)" "" "0000250030" "00007759" "10" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(Ile315=)" "" "0000276674" "00007759" "30" "-12" "0" "-12" "0" "c.-12C>T" "r.(?)" "p.(=)" "" "0000276675" "00007759" "30" "1191" "0" "1191" "0" "c.1191G>A" "r.(?)" "p.(Thr397=)" "" "0000276676" "00007759" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000276677" "00007759" "10" "502" "15" "502" "15" "c.502+15G>C" "r.(=)" "p.(=)" "" "0000283012" "00007759" "10" "989" "13" "989" "13" "c.989+13G>A" "r.(=)" "p.(=)" "" "0000283852" "00007759" "30" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Gly90Ser)" "" "0000283853" "00007759" "10" "502" "15" "502" "15" "c.502+15G>C" "r.(=)" "p.(=)" "" "0000283854" "00007759" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "0000340825" "00007759" "10" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(Ile315=)" "" "0000341397" "00007759" "90" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Ala363Thr)" "" "0000350652" "00007759" "50" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Val75Ala)" "" "0000470392" "00007759" "50" "-414" "0" "-414" "0" "c.-414C>T" "r.(?)" "p.(=)" "1" "0000480454" "00007759" "50" "-414" "0" "-414" "0" "c.-414C>T" "r.(?)" "p.(=)" "1" "0000480455" "00007759" "50" "-414" "0" "-414" "0" "c.-414C>T" "r.(?)" "p.(=)" "1" "0000480456" "00007759" "50" "-414" "0" "-414" "0" "c.-414C>T" "r.(?)" "p.(=)" "1" "0000480457" "00007759" "50" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(=)" "9" "0000480458" "00007759" "50" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(=)" "9" "0000480461" "00007759" "50" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(=)" "9" "0000480462" "00007759" "50" "945" "0" "945" "0" "c.945T>C" "r.(?)" "p.(=)" "9" "0000480463" "00007759" "50" "1186" "-46" "1186" "-46" "c.1186-46A>G" "r.(?)" "p.(=)" "10i" "0000480464" "00007759" "50" "1186" "-46" "1186" "-46" "c.1186-46A>G" "r.(?)" "p.(=)" "10i" "0000480466" "00007759" "50" "1186" "-46" "1186" "-46" "c.1186-46A>G" "r.(?)" "p.(=)" "10i" "0000480467" "00007759" "50" "1186" "-46" "1186" "-46" "c.1186-46A>G" "r.(?)" "p.(=)" "10i" "0000553365" "00007759" "10" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Pro447=)" "" "0000553366" "00007759" "10" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Tyr374=)" "" "0000553367" "00007759" "10" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Tyr374=)" "" "0000553368" "00007759" "10" "990" "-274" "990" "-274" "c.990-274T>C" "r.(=)" "p.(=)" "" "0000553370" "00007759" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000553371" "00007759" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Gly90Ser)" "" "0000553372" "00007759" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Gly90Ser)" "" "0000553373" "00007759" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Gly90Ser)" "" "0000615133" "00007759" "50" "676" "0" "676" "0" "c.676G>A" "r.(?)" "p.(Gly226Ser)" "" "0000680078" "00007759" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "0000680079" "00007759" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000724916" "00007759" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "0000724917" "00007759" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Cys217=)" "" "0000724918" "00007759" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Gly90Ser)" "" "0000730692" "00007759" "90" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Ile365Val)" "10" "0000763781" "00007759" "90" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000789729" "00007759" "30" "-174" "0" "-174" "0" "c.-174del" "r.spl?" "p.?" "1" "0000789730" "00007759" "30" "-139" "0" "-139" "0" "c.-139C>G" "r.spl?" "p.?" "1" "0000789731" "00007759" "30" "18" "-28" "18" "-28" "c.18-28A>G" "r.spl?" "p.?" "1i" "0000789732" "00007759" "30" "19" "26" "19" "26" "c.19+26T>A" "r.spl?" "p.?" "2" "0000789733" "00007759" "30" "124" "25" "124" "25" "c.124+25T>C" "r.spl?" "p.?" "3i" "0000789734" "00007759" "30" "124" "71" "124" "71" "c.124+71C>T" "r.spl?" "p.?" "3i" "0000789735" "00007759" "30" "125" "-32" "125" "-32" "c.125-32C>T" "r.spl?" "p.?" "3i" "0000789736" "00007759" "30" "502" "14" "502" "14" "c.502+14G>C" "r.spl?" "p.?" "5i" "0000789737" "00007759" "90" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "6" "0000789738" "00007759" "30" "620" "-8" "620" "-8" "c.620-8T>C" "r.(=)" "p.(=)" "6i" "0000789739" "00007759" "30" "945" "0" "945" "0" "c.945T>C" "r.(=)" "p.(=)" "9" "0000789740" "00007759" "30" "863" "-61" "863" "-61" "c.863-61C>T" "r.spl?" "p.?" "8i" "0000789741" "00007759" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(=)" "p.(=)" "10" "0000789742" "00007759" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000853921" "00007759" "30" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Pro447=)" "" "0000863712" "00007759" "30" "1275" "0" "1275" "0" "c.1275C>T" "r.(?)" "p.(Val425=)" "" "0000891935" "00007759" "10" "989" "13" "989" "13" "c.989+13G>A" "r.(=)" "p.(=)" "" "0000891936" "00007759" "50" "949" "0" "949" "0" "c.949C>A" "r.(?)" "p.(Pro317Thr)" "" "0000891937" "00007759" "10" "863" "-13" "863" "-13" "c.863-13C>T" "r.(=)" "p.(=)" "" "0000914249" "00007759" "10" "863" "-13" "863" "-13" "c.863-13C>T" "r.(=)" "p.(=)" "" "0000930347" "00007759" "50" "148" "0" "148" "0" "c.148C>A" "r.(?)" "p.(Pro50Thr)" "" "0000950298" "00007759" "50" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Met)" "" "0000950299" "00007759" "30" "989" "11" "989" "11" "c.989+11dup" "r.(=)" "p.(=)" "" "0000950300" "00007759" "50" "255" "0" "266" "0" "c.255_266del" "r.(?)" "p.(Thr86_Ser89del)" "" "0000958414" "00007759" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Gly267Ser)" "" "0000981062" "00007759" "50" "501" "0" "501" "0" "c.501A>C" "r.(?)" "p.(Leu167Phe)" "" "0000981063" "00007759" "30" "379" "9" "379" "9" "c.379+9C>T" "r.(=)" "p.(=)" "" "0000981064" "00007759" "30" "18" "-373" "18" "-373" "c.18-373del" "r.(=)" "p.(=)" "" "0001001199" "00007759" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Ile365Val)" "" "0001026411" "00007759" "30" "951" "0" "951" "0" "c.951C>T" "r.(?)" "p.(=)" "" "0001040151" "00007759" "50" "1190" "0" "1190" "0" "c.1190C>T" "r.(?)" "p.(Thr397Met)" "" "0001040152" "00007759" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Arg54Gln)" "" "0001040153" "00007759" "50" "17" "691" "17" "694" "c.17+691_17+694del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000081604" "0000132273" "0000081605" "0000132274" "0000227257" "0000480455" "0000229242" "0000470392" "0000236490" "0000480454" "0000236491" "0000480456" "0000236493" "0000480457" "0000236494" "0000480458" "0000236497" "0000480461" "0000236498" "0000480462" "0000236499" "0000480463" "0000236500" "0000480464" "0000236501" "0000480466" "0000236502" "0000480467" "0000333268" "0000730692" "0000363235" "0000763781" "0000377409" "0000789729" "0000377410" "0000789730" "0000377411" "0000789731" "0000377412" "0000789732" "0000377413" "0000789733" "0000377414" "0000789734" "0000377415" "0000789735" "0000377416" "0000789736" "0000377417" "0000789737" "0000377418" "0000789738" "0000377419" "0000789739" "0000377420" "0000789740" "0000377421" "0000789741" "0000377422" "0000789742" "0000448513" "0000958414"