### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBN3) # 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}}" "FBN3" "fibrillin 3" "19" "p13" "unknown" "NC_000019.9" "UD_132378730585" "" "https://www.LOVD.nl/FBN3" "" "1" "18794" "84467" "608529" "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/FBN3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-07 08:22:20" "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}}" "00007763" "FBN3" "fibrillin 3" "001" "NM_032447.3" "" "NP_115823.3" "" "" "" "-21" "8946" "8430" "8212385" "8130287" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05234" "CM1" "malformation, Chiari, type I (CM-1)" "" "118420" "" "" "" "00006" "2017-03-06 20:17:57" "00006" "2021-12-10 21:51:32" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00100621" "" "" "" "3" "" "01926" "" "" "F" "no" "Italy" "" "0" "" "Surgery of cranial posterior fossa" "White" "@VED" "00292216" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00299642" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "" "FamGC17880Pat3" "00397341" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00100621" "05234" "00292216" "00198" "00299641" "04214" "00299642" "04214" "00397341" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05234, 06886 ## Count = 3 "{{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}}" "0000078872" "05234" "00100621" "01926" "Familial, autosomal dominant" "08y" "" "08y" "" "scaphocephaly, Chiari malformation type I" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000226952" "04214" "00299642" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165" "30y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101037" "00100621" "1" "01926" "01926" "2017-03-06 16:21:59" "00006" "2017-03-07 17:09:54" "SEQ-NG-I" "DNA" "blood" "" "0000293384" "00292216" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000300752" "00299642" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000398581" "00397341" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000101037" "DKK1" "0000101037" "FBN3" "0000101037" "ITGA10" "0000101037" "MATN3" "0000300751" "ARHGEF18" "0000300752" "ARHGEF18" ## 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 = 70 "{{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}}" "0000163487" "11" "70" "19" "8212222" "8212222" "subst" "0.00259613" "01926" "FBN3_000001" "g.8212222C>T" "" "" "" "" "" "Germline" "yes" "rs149095306" "0" "" "" "g.8147338C>T" "" "likely pathogenic" "" "0000250132" "0" "10" "19" "8152725" "8152725" "subst" "0.679638" "02329" "FBN3_000011" "g.8152725A>G" "" "" "" "FBN3(NM_032447.5):c.6603T>C (p.D2201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8087841A>G" "" "benign" "" "0000250137" "0" "10" "19" "8140037" "8140037" "subst" "0.0102902" "02329" "FBN3_000004" "g.8140037A>C" "" "" "" "FBN3(NM_032447.5):c.7620T>G (p.H2540Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8075153A>C" "" "benign" "" "0000250241" "0" "10" "19" "8174650" "8174650" "subst" "0.552766" "02329" "FBN3_000026" "g.8174650A>G" "" "" "" "FBN3(NM_032447.5):c.4334-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8109766A>G" "" "benign" "" "0000250242" "0" "10" "19" "8191248" "8191248" "subst" "0.988949" "02329" "FBN3_000038" "g.8191248A>G" "" "" "" "FBN3(NM_032447.5):c.2555-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8126364A>G" "" "benign" "" "0000250486" "0" "30" "19" "8200838" "8200838" "subst" "0" "02329" "FBN3_000048" "g.8200838A>C" "" "" "" "FBN3(NM_032447.5):c.1591+7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8135954A>C" "" "likely benign" "" "0000283129" "0" "10" "19" "8212263" "8212263" "subst" "0.287564" "02329" "FBN3_000057" "g.8212263G>A" "" "" "" "FBN3(NM_032447.5):c.102C>T (p.D34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8147379G>A" "" "benign" "" "0000283130" "0" "10" "19" "8201266" "8201266" "subst" "0.0887874" "02329" "FBN3_000052" "g.8201266G>T" "" "" "" "FBN3(NM_032447.5):c.1345+6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8136382G>T" "" "benign" "" "0000283131" "0" "10" "19" "8200828" "8200828" "subst" "0.445629" "02329" "FBN3_000047" "g.8200828G>C" "" "" "" "FBN3(NM_032447.5):c.1591+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8135944G>C" "" "benign" "" "0000283132" "0" "10" "19" "8197983" "8197983" "subst" "0.0715622" "02329" "FBN3_000046" "g.8197983G>A" "" "" "" "FBN3(NM_032447.5):c.1599C>T (p.N533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8133099G>A" "" "benign" "" "0000283133" "0" "10" "19" "8197958" "8197958" "subst" "0.0386583" "02329" "FBN3_000045" "g.8197958C>T" "" "" "" "FBN3(NM_032447.5):c.1624G>A (p.V542I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8133074C>T" "" "benign" "" "0000283134" "0" "10" "19" "8197865" "8197865" "subst" "0.285638" "02329" "FBN3_000043" "g.8197865C>T" "" "" "" "FBN3(NM_032447.5):c.1714+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8132981C>T" "" "benign" "" "0000283135" "0" "10" "19" "8196643" "8196643" "subst" "0.103261" "02329" "FBN3_000042" "g.8196643G>A" "" "" "" "FBN3(NM_032447.5):c.1785C>T (p.R595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8131759G>A" "" "benign" "" "0000283136" "0" "10" "19" "8196508" "8196508" "subst" "0.291653" "02329" "FBN3_000041" "g.8196508G>C" "" "" "" "FBN3(NM_032447.5):c.1920C>G (p.S640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8131624G>C" "" "benign" "" "0000283137" "0" "10" "19" "8196444" "8196444" "subst" "0.994072" "02329" "FBN3_000040" "g.8196444C>T" "" "" "" "FBN3(NM_032447.5):c.1984G>A (p.D662N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8131560C>T" "" "benign" "" "0000283138" "0" "10" "19" "8191401" "8191401" "subst" "0.352542" "02329" "FBN3_000039" "g.8191401G>A" "" "" "" "FBN3(NM_032447.5):c.2505C>T (p.C835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8126517G>A" "" "benign" "" "0000283139" "0" "10" "19" "8191238" "8191238" "subst" "0.994332" "02329" "FBN3_000037" "g.8191238C>T" "" "" "" "FBN3(NM_032447.5):c.2555-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8126354C>T" "" "benign" "" "0000283140" "0" "10" "19" "8191184" "8191184" "subst" "0.320399" "02329" "FBN3_000036" "g.8191184C>T" "" "" "" "FBN3(NM_032447.5):c.2602G>A (p.D868N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8126300C>T" "" "benign" "" "0000283142" "0" "10" "19" "8210997" "8210997" "subst" "0.0425908" "02329" "FBN3_000055" "g.8210997C>T" "" "" "" "FBN3(NM_032447.5):c.349+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8146113C>T" "" "benign" "" "0000283143" "0" "10" "19" "8211005" "8211005" "subst" "0.0421473" "02329" "FBN3_000056" "g.8211005G>A" "" "" "" "FBN3(NM_032447.5):c.349+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8146121G>A" "" "benign" "" "0000283144" "0" "10" "19" "8176919" "8176919" "subst" "0.625072" "02329" "FBN3_000030" "g.8176919C>T" "" "" "" "FBN3(NM_032447.5):c.3903G>A (p.P1301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8112035C>T" "" "benign" "" "0000283145" "0" "10" "19" "8176640" "8176640" "subst" "0.262806" "02329" "FBN3_000029" "g.8176640C>T" "" "" "" "FBN3(NM_032447.5):c.3976G>A (p.V1326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8111756C>T" "" "benign" "" "0000283146" "0" "10" "19" "8176569" "8176569" "subst" "0.256431" "02329" "FBN3_000028" "g.8176569G>A" "" "" "" "FBN3(NM_032447.5):c.4047C>T (p.C1349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8111685G>A" "" "benign" "" "0000283147" "0" "10" "19" "8176009" "8176009" "subst" "0.105478" "02329" "FBN3_000027" "g.8176009C>T" "" "" "" "FBN3(NM_032447.5):c.4143G>A (p.A1381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8111125C>T" "" "benign" "" "0000283148" "0" "10" "19" "8168545" "8168545" "subst" "0.243824" "02329" "FBN3_000023" "g.8168545C>T" "" "" "" "FBN3(NM_032447.5):c.4840G>A (p.G1614S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8103661C>T" "" "benign" "" "0000283149" "0" "10" "19" "8167590" "8167590" "subst" "0.142965" "02329" "FBN3_000021" "g.8167590T>C" "" "" "" "FBN3(NM_032447.5):c.5089+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8102706T>C" "" "benign" "" "0000283150" "0" "10" "19" "8165868" "8165868" "subst" "0.307166" "02329" "FBN3_000020" "g.8165868G>A" "" "" "" "FBN3(NM_032447.5):c.5090-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8100984G>A" "" "benign" "" "0000283151" "0" "10" "19" "8161450" "8161450" "subst" "0.21228" "02329" "FBN3_000019" "g.8161450C>T" "" "" "" "FBN3(NM_032447.5):c.5417G>A (p.R1806Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8096566C>T" "" "benign" "" "0000283152" "0" "10" "19" "8160897" "8160897" "subst" "0.149978" "02329" "FBN3_000018" "g.8160897G>C" "" "" "" "FBN3(NM_032447.5):c.5607C>G (p.N1869K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8096013G>C" "" "benign" "" "0000283153" "0" "10" "19" "8160334" "8160334" "subst" "0.307542" "02329" "FBN3_000017" "g.8160334G>A" "" "" "" "FBN3(NM_032447.5):c.5710C>T (p.L1904F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8095450G>A" "" "benign" "" "0000283154" "0" "10" "19" "8159409" "8159409" "subst" "0.685664" "02329" "FBN3_000016" "g.8159409G>T" "" "" "" "FBN3(NM_032447.5):c.5826C>A (p.P1942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8094525G>T" "" "benign" "" "0000283155" "0" "10" "19" "8159362" "8159362" "subst" "0.46841" "02329" "FBN3_000015" "g.8159362G>T" "" "" "" "FBN3(NM_032447.5):c.5873C>A (p.P1958H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8094478G>T" "" "benign" "" "0000283156" "0" "10" "19" "8159339" "8159339" "subst" "0.0931632" "02329" "FBN3_000014" "g.8159339G>C" "" "" "" "FBN3(NM_032447.5):c.5896C>G (p.H1966D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8094455G>C" "" "benign" "" "0000283157" "0" "10" "19" "8154990" "8154990" "subst" "0.285811" "02329" "FBN3_000013" "g.8154990C>T" "" "" "" "FBN3(NM_032447.5):c.6177G>A (p.E2059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8090106C>T" "" "benign" "" "0000283158" "0" "10" "19" "8154760" "8154760" "subst" "0.38203" "02329" "FBN3_000012" "g.8154760T>C" "" "" "" "FBN3(NM_032447.5):c.6250+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8089876T>C" "" "benign" "" "0000283159" "0" "10" "19" "8145921" "8145921" "subst" "0.535054" "02329" "FBN3_000006" "g.8145921C>T" "" "" "" "FBN3(NM_032447.5):c.7419G>A (p.P2473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8081037C>T" "" "benign" "" "0000283160" "0" "10" "19" "8138054" "8138054" "subst" "0.542647" "02329" "FBN3_000003" "g.8138054C>A" "" "" "" "FBN3(NM_032447.5):c.7830G>T (p.E2610D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8073170C>A" "" "benign" "" "0000283161" "0" "10" "19" "8137102" "8137102" "subst" "0.621037" "02329" "FBN3_000002" "g.8137102G>T" "" "" "" "FBN3(NM_032447.5):c.7938-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8072218G>T" "" "benign" "" "0000283162" "0" "10" "19" "8203328" "8203328" "subst" "0.265439" "02329" "FBN3_000053" "g.8203328G>A" "" "" "" "FBN3(NM_032447.5):c.986C>T (p.P329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8138444G>A" "" "benign" "" "0000287328" "0" "50" "19" "8171060" "8171060" "subst" "1.62529E-5" "01943" "FBN3_000025" "g.8171060G>A" "" "" "" "FBN3(NM_032447.5):c.4745C>T (p.T1582M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8106176G>A" "" "VUS" "" "0000287329" "0" "50" "19" "8171051" "8171051" "subst" "0" "01943" "FBN3_000024" "g.8171051C>A" "" "" "" "FBN3(NM_032447.5):c.4754G>T (p.S1585I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8106167C>A" "" "VUS" "" "0000287330" "0" "50" "19" "8206916" "8206916" "subst" "2.44061E-5" "01943" "FBN3_000054" "g.8206916C>T" "" "" "" "FBN3(NM_032447.5):c.647G>A (p.R216H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8142032C>T" "" "VUS" "" "0000287331" "0" "30" "19" "8145980" "8145980" "subst" "3.66125E-5" "01943" "FBN3_000007" "g.8145980G>T" "" "" "" "FBN3(NM_032447.5):c.7360C>A (p.Q2454K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8081096G>T" "" "likely benign" "" "0000326115" "0" "50" "19" "8140251" "8140251" "subst" "8.1811E-6" "01804" "FBN3_000005" "g.8140251C>T" "" "" "" "FBN3(NM_032447.3):c.7498G>A (p.(Gly2500Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8075367C>T" "" "VUS" "" "0000326118" "0" "50" "19" "8151132" "8151132" "subst" "0.00742733" "01804" "FBN3_000010" "g.8151132C>G" "" "" "" "FBN3(NM_032447.3):c.6832G>C (p.(Asp2278His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8086248C>G" "" "VUS" "" "0000326120" "0" "50" "19" "8168538" "8168538" "subst" "0.00157672" "01804" "FBN3_000022" "g.8168538C>T" "" "" "" "FBN3(NM_032447.5):c.4847G>A (p.(Cys1616Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8103654C>T" "" "VUS" "" "0000326124" "0" "50" "19" "8186249" "8186249" "subst" "0.00024846" "01804" "FBN3_000034" "g.8186249G>A" "" "" "" "FBN3(NM_032447.3):c.3104C>T (p.(Ser1035Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8121365G>A" "" "VUS" "" "0000326127" "0" "30" "19" "8200976" "8200976" "subst" "0.00583594" "01804" "FBN3_000050" "g.8200976G>A" "" "" "" "FBN3(NM_032447.3):c.1466-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8136092G>A" "" "likely benign" "" "0000326128" "0" "50" "19" "8201158" "8201158" "subst" "8.4804E-6" "01804" "FBN3_000051" "g.8201158C>T" "" "" "" "FBN3(NM_032447.3):c.1381G>A (p.(Gly461Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8136274C>T" "" "VUS" "" "0000568881" "0" "10" "19" "8174511" "8174511" "subst" "0.0877672" "02329" "FBN3_000058" "g.8174511T>C" "" "" "" "FBN3(NM_032447.5):c.4456+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8109627T>C" "" "benign" "" "0000568884" "0" "10" "19" "8176945" "8176945" "subst" "0.254054" "02329" "FBN3_000061" "g.8176945T>C" "" "" "" "FBN3(NM_032447.5):c.3877A>G (p.S1293G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8112061T>C" "" "benign" "" "0000568887" "0" "10" "19" "8186286" "8186286" "dup" "0" "02329" "FBN3_000064" "g.8186286dup" "" "" "" "FBN3(NM_032447.5):c.3083-12dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8121402dup" "" "benign" "" "0000568888" "0" "10" "19" "8200832" "8200832" "subst" "0.417048" "02329" "FBN3_000065" "g.8200832A>C" "" "" "" "FBN3(NM_032447.5):c.1591+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8135948A>C" "" "benign" "" "0000617953" "0" "30" "19" "8201285" "8201285" "subst" "0.000284984" "01943" "FBN3_000069" "g.8201285G>A" "" "" "" "FBN3(NM_032447.5):c.1332C>T (p.R444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8136401G>A" "" "likely benign" "" "0000617954" "0" "50" "19" "8210723" "8210726" "del" "0" "01943" "FBN3_000070" "g.8210723_8210726del" "" "" "" "FBN3(NM_032447.5):c.445+3_445+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8145839_8145842del" "" "VUS" "" "0000650073" "1" "50" "19" "8152724" "8152724" "subst" "0.00358443" "03575" "FBN3_000071" "g.8152724C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs138457751}" "Germline" "" "rs138457751" "0" "" "" "g.8087840C>T" "" "VUS" "" "0000663600" "1" "50" "19" "8175953" "8175953" "subst" "0.00166462" "00006" "FBN3_000074" "g.8175953C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.8111069C>T" "" "VUS" "" "0000663601" "2" "50" "19" "8188682" "8188682" "subst" "0.00156479" "00006" "FBN3_000075" "g.8188682C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.8123798C>T" "" "VUS" "" "0000663637" "1" "50" "19" "8130867" "8130867" "subst" "0.00275507" "00006" "FBN3_000072" "g.8130867G>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.8065983G>T" "" "VUS" "" "0000663638" "2" "50" "19" "8138104" "8138104" "subst" "0.00309252" "00006" "FBN3_000073" "g.8138104C>T" "" "{PMID:Arno 2017:28132693}" "" "" "" "Germline" "" "" "0" "" "" "g.8073220C>T" "" "VUS" "" "0000830795" "0" "50" "19" "8201383" "8201383" "subst" "8.12308E-5" "00006" "FBN3_000076" "g.8201383A>G" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.8136499A>G" "" "VUS" "" "0000866364" "0" "50" "19" "8161835" "8161835" "subst" "6.91715E-5" "02327" "FBN3_000077" "g.8161835G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866365" "0" "50" "19" "8174267" "8174267" "subst" "2.43748E-5" "02327" "FBN3_000078" "g.8174267G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983709" "0" "30" "19" "8130867" "8130867" "subst" "0.00275507" "01804" "FBN3_000072" "g.8130867G>T" "" "" "" "FBN3(NM_032447.5):c.8366C>A (p.(Pro2789Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983710" "0" "30" "19" "8138104" "8138104" "subst" "0.00309252" "01804" "FBN3_000073" "g.8138104C>T" "" "" "" "FBN3(NM_032447.5):c.7780G>A (p.(Val2594Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983711" "0" "50" "19" "8188683" "8188683" "subst" "8.23303E-6" "01804" "FBN3_000079" "g.8188683G>C" "" "" "" "FBN3(NM_032447.5):c.2941C>G (p.(Arg981Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983712" "0" "30" "19" "8206847" "8206847" "subst" "0.00444231" "01804" "FBN3_000080" "g.8206847T>C" "" "" "" "FBN3(NM_032447.5):c.716A>G (p.(Asn239Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005225" "0" "30" "19" "8203166" "8203166" "subst" "3.3057E-5" "01804" "FBN3_000081" "g.8203166G>T" "" "" "" "FBN3(NM_032447.3):c.1060C>A (p.(Pro354Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043237" "0" "50" "19" "8196620" "8196620" "subst" "2.46362E-5" "01804" "FBN3_000082" "g.8196620G>T" "" "" "" "FBN3(NM_032447.5):c.1808C>A (p.(Ala603Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043238" "0" "30" "19" "8210816" "8210816" "subst" "0.00220673" "01804" "FBN3_000083" "g.8210816C>G" "" "" "" "FBN3(NM_032447.5):c.356G>C (p.(Gly119Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FBN3 ## Count = 70 "{{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}}" "0000163487" "00007763" "70" "143" "0" "143" "0" "c.143G>A" "r.(143g>a)" "p.(Arg48Gln)" "1" "0000250132" "00007763" "10" "6603" "0" "6603" "0" "c.6603T>C" "r.(?)" "p.(Asp2201=)" "" "0000250137" "00007763" "10" "7620" "0" "7620" "0" "c.7620T>G" "r.(?)" "p.(His2540Gln)" "" "0000250241" "00007763" "10" "4334" "-13" "4334" "-13" "c.4334-13T>C" "r.(=)" "p.(=)" "" "0000250242" "00007763" "10" "2555" "-17" "2555" "-17" "c.2555-17T>C" "r.(=)" "p.(=)" "" "0000250486" "00007763" "30" "1591" "7" "1591" "7" "c.1591+7T>G" "r.(=)" "p.(=)" "" "0000283129" "00007763" "10" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Asp34=)" "" "0000283130" "00007763" "10" "1345" "6" "1345" "6" "c.1345+6C>A" "r.(=)" "p.(=)" "" "0000283131" "00007763" "10" "1591" "17" "1591" "17" "c.1591+17C>G" "r.(=)" "p.(=)" "" "0000283132" "00007763" "10" "1599" "0" "1599" "0" "c.1599C>T" "r.(?)" "p.(Asn533=)" "" "0000283133" "00007763" "10" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Val542Ile)" "" "0000283134" "00007763" "10" "1714" "3" "1714" "3" "c.1714+3G>A" "r.spl?" "p.?" "" "0000283135" "00007763" "10" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Arg595=)" "" "0000283136" "00007763" "10" "1920" "0" "1920" "0" "c.1920C>G" "r.(?)" "p.(Ser640=)" "" "0000283137" "00007763" "10" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Asp662Asn)" "" "0000283138" "00007763" "10" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(Cys835=)" "" "0000283139" "00007763" "10" "2555" "-7" "2555" "-7" "c.2555-7G>A" "r.(=)" "p.(=)" "" "0000283140" "00007763" "10" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Asp868Asn)" "" "0000283142" "00007763" "10" "349" "14" "349" "14" "c.349+14G>A" "r.(=)" "p.(=)" "" "0000283143" "00007763" "10" "349" "6" "349" "6" "c.349+6C>T" "r.(=)" "p.(=)" "" "0000283144" "00007763" "10" "3903" "0" "3903" "0" "c.3903G>A" "r.(?)" "p.(Pro1301=)" "" "0000283145" "00007763" "10" "3976" "0" "3976" "0" "c.3976G>A" "r.(?)" "p.(Val1326Ile)" "" "0000283146" "00007763" "10" "4047" "0" "4047" "0" "c.4047C>T" "r.(?)" "p.(Cys1349=)" "" "0000283147" "00007763" "10" "4143" "0" "4143" "0" "c.4143G>A" "r.(?)" "p.(Ala1381=)" "" "0000283148" "00007763" "10" "4840" "0" "4840" "0" "c.4840G>A" "r.(?)" "p.(Gly1614Ser)" "" "0000283149" "00007763" "10" "5089" "18" "5089" "18" "c.5089+18A>G" "r.(=)" "p.(=)" "" "0000283150" "00007763" "10" "5090" "-12" "5090" "-12" "c.5090-12C>T" "r.(=)" "p.(=)" "" "0000283151" "00007763" "10" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Arg1806Gln)" "" "0000283152" "00007763" "10" "5607" "0" "5607" "0" "c.5607C>G" "r.(?)" "p.(Asn1869Lys)" "" "0000283153" "00007763" "10" "5710" "0" "5710" "0" "c.5710C>T" "r.(?)" "p.(Leu1904Phe)" "" "0000283154" "00007763" "10" "5826" "0" "5826" "0" "c.5826C>A" "r.(?)" "p.(Pro1942=)" "" "0000283155" "00007763" "10" "5873" "0" "5873" "0" "c.5873C>A" "r.(?)" "p.(Pro1958His)" "" "0000283156" "00007763" "10" "5896" "0" "5896" "0" "c.5896C>G" "r.(?)" "p.(His1966Asp)" "" "0000283157" "00007763" "10" "6177" "0" "6177" "0" "c.6177G>A" "r.(?)" "p.(Glu2059=)" "" "0000283158" "00007763" "10" "6250" "18" "6250" "18" "c.6250+18A>G" "r.(=)" "p.(=)" "" "0000283159" "00007763" "10" "7419" "0" "7419" "0" "c.7419G>A" "r.(?)" "p.(Pro2473=)" "" "0000283160" "00007763" "10" "7830" "0" "7830" "0" "c.7830G>T" "r.(?)" "p.(Glu2610Asp)" "" "0000283161" "00007763" "10" "7938" "-20" "7938" "-20" "c.7938-20C>A" "r.(=)" "p.(=)" "" "0000283162" "00007763" "10" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "" "0000287328" "00007763" "50" "4745" "0" "4745" "0" "c.4745C>T" "r.(?)" "p.(Thr1582Met)" "" "0000287329" "00007763" "50" "4754" "0" "4754" "0" "c.4754G>T" "r.(?)" "p.(Ser1585Ile)" "" "0000287330" "00007763" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000287331" "00007763" "30" "7360" "0" "7360" "0" "c.7360C>A" "r.(?)" "p.(Gln2454Lys)" "" "0000326115" "00007763" "50" "7498" "0" "7498" "0" "c.7498G>A" "r.(?)" "p.(Gly2500Arg)" "" "0000326118" "00007763" "50" "6832" "0" "6832" "0" "c.6832G>C" "r.(?)" "p.(Asp2278His)" "" "0000326120" "00007763" "50" "4847" "0" "4847" "0" "c.4847G>A" "r.(?)" "p.(Cys1616Tyr)" "" "0000326124" "00007763" "50" "3104" "0" "3104" "0" "c.3104C>T" "r.(?)" "p.(Ser1035Phe)" "" "0000326127" "00007763" "30" "1466" "-6" "1466" "-6" "c.1466-6C>T" "r.(=)" "p.(=)" "" "0000326128" "00007763" "50" "1381" "0" "1381" "0" "c.1381G>A" "r.(?)" "p.(Gly461Ser)" "" "0000568881" "00007763" "10" "4456" "4" "4456" "4" "c.4456+4A>G" "r.spl?" "p.?" "" "0000568884" "00007763" "10" "3877" "0" "3877" "0" "c.3877A>G" "r.(?)" "p.(Ser1293Gly)" "" "0000568887" "00007763" "10" "3083" "-12" "3083" "-12" "c.3083-12dup" "r.(=)" "p.(=)" "" "0000568888" "00007763" "10" "1591" "13" "1591" "13" "c.1591+13T>G" "r.(=)" "p.(=)" "" "0000617953" "00007763" "30" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(Arg444=)" "" "0000617954" "00007763" "50" "445" "3" "445" "6" "c.445+3_445+6del" "r.spl?" "p.?" "" "0000650073" "00007763" "50" "6604" "0" "6604" "0" "c.6604G>A" "r.(?)" "p.(Gly2202Arg)" "" "0000663600" "00007763" "50" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "" "0000663601" "00007763" "50" "2942" "0" "2942" "0" "c.2942G>A" "r.(?)" "p.(Arg981Gln)" "" "0000663637" "00007763" "50" "8366" "0" "8366" "0" "c.8366C>A" "r.(?)" "p.(Pro2789Gln)" "" "0000663638" "00007763" "50" "7780" "0" "7780" "0" "c.7780G>A" "r.(?)" "p.(Val2594Ile)" "" "0000830795" "00007763" "50" "1234" "0" "1234" "0" "c.1234T>C" "r.(?)" "p.(Cys412Arg)" "10" "0000866364" "00007763" "50" "5343" "0" "5343" "0" "c.5343C>G" "r.(?)" "p.(Ile1781Met)" "" "0000866365" "00007763" "50" "4462" "0" "4462" "0" "c.4462C>T" "r.(?)" "p.(Arg1488Trp)" "" "0000983709" "00007763" "30" "8366" "0" "8366" "0" "c.8366C>A" "r.(?)" "p.(Pro2789Gln)" "" "0000983710" "00007763" "30" "7780" "0" "7780" "0" "c.7780G>A" "r.(?)" "p.(Val2594Ile)" "" "0000983711" "00007763" "50" "2941" "0" "2941" "0" "c.2941C>G" "r.(?)" "p.(Arg981Gly)" "" "0000983712" "00007763" "30" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Asn239Ser)" "" "0001005225" "00007763" "30" "1060" "0" "1060" "0" "c.1060C>A" "r.(?)" "p.(Pro354Thr)" "" "0001043237" "00007763" "50" "1808" "0" "1808" "0" "c.1808C>A" "r.(?)" "p.(Ala603Glu)" "" "0001043238" "00007763" "30" "356" "0" "356" "0" "c.356G>C" "r.(?)" "p.(Gly119Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000101037" "0000163487" "0000293384" "0000650073" "0000300751" "0000663637" "0000300751" "0000663638" "0000300752" "0000663600" "0000300752" "0000663601" "0000398581" "0000830795"