### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBLN1) # 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}}" "FBLN1" "fibulin 1" "22" "q13.31" "unknown" "NG_023308.2" "UD_132118461065" "" "https://www.LOVD.nl/FBLN1" "" "1" "3600" "2192" "135820" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FBLN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-14 10:40:45" "00000" "2025-11-01 13:22:20" ## 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}}" "00007757" "FBLN1" "transcript variant D" "001" "NM_006486.2" "" "NP_006477.2" "" "" "" "-147" "2800" "2112" "45898719" "45997014" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02741" "SPD2" "synpolydactyly, type 2 (SPD-2)" "AD" "608180" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "FBLN1" "02741" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00050175" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050185" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050227" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050298" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "uninherited diplotypes" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00293146" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293147" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314708" "" "" "" "1" "" "00006" "{PMID:Slavotinek 2015:25457163}" "" "M" "" "United States" "" "0" "" "" "Hispanic" "" "00361999" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat2AB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00050175" "00198" "00050185" "00198" "00050227" "00198" "00050298" "00198" "00293146" "00198" "00293147" "00198" "00314708" "00198" "00361999" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02741, 04214 ## Count = 6 "{{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}}" "0000036787" "00198" "00050175" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036797" "00198" "00050185" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036839" "00198" "00050227" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000036910" "00198" "00050298" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000238510" "00198" "00314708" "00006" "Unknown" "" "bilateral anophthalmia, lateral facial cleft, syndactyly" "" "" "" "" "" "" "" "" "" "developmental eye defects" "" "0000257392" "04214" "00361999" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050120" "00050175" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050130" "00050185" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050172" "00050227" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050243" "00050298" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000294314" "00293146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294315" "00293147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315881" "00314708" "1" "00006" "00006" "2020-10-14 10:44:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363227" "00361999" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000050120" "FBLN1" "0000050130" "FBLN1" "0000050172" "FBLN1" "0000050243" "FBLN1" "0000315881" "FBLN1" ## 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 = 72 "{{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}}" "0000079072" "3" "90" "22" "45913562" "45913562" "subst" "0" "00006" "FBLN1_000001" "g.45913562G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.45517682G>A" "" "pathogenic" "" "0000079082" "3" "90" "22" "45913562" "45913562" "subst" "0" "00006" "FBLN1_000001" "g.45913562G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.45517682G>A" "" "pathogenic" "" "0000079124" "3" "90" "22" "45913562" "45913562" "subst" "0" "00006" "FBLN1_000001" "g.45913562G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.45517682G>A" "" "pathogenic" "" "0000079195" "3" "90" "22" "45913562" "45913562" "subst" "0" "00006" "FBLN1_000001" "g.45913562G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.45517682G>A" "" "pathogenic" "" "0000248877" "0" "10" "22" "45923827" "45923827" "subst" "0.99864" "02325" "FBLN1_000002" "g.45923827A>G" "" "" "" "FBLN1(NM_006486.3):c.422A>G (p.Q141R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45527947A>G" "" "benign" "" "0000287204" "0" "30" "22" "45938048" "45938048" "subst" "0.000259901" "01943" "FBLN1_000003" "g.45938048C>T" "" "" "" "FBLN1(NM_006486.2):c.1080C>T (p.C360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45542168C>T" "" "likely benign" "" "0000287205" "0" "30" "22" "45939294" "45939294" "subst" "0.00199167" "01943" "FBLN1_000004" "g.45939294C>T" "" "" "" "FBLN1(NM_006486.2):c.1209C>T (p.C403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45543414C>T" "" "likely benign" "" "0000572257" "0" "30" "22" "45898939" "45898939" "subst" "0" "01804" "FBLN1_000005" "g.45898939C>T" "" "" "" "FBLN1(NM_001996.3):c.74C>T (p.(Ala25Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45503059C>T" "" "likely benign" "" "0000572258" "0" "30" "22" "45937102" "45937102" "subst" "0.00104769" "01804" "FBLN1_000006" "g.45937102G>A" "" "" "" "FBLN1(NM_001996.3):c.923-7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45541222G>A" "" "likely benign" "" "0000572259" "0" "10" "22" "45937149" "45937149" "subst" "0.359589" "02325" "FBLN1_000007" "g.45937149C>T" "" "" "" "FBLN1(NM_006486.3):c.963C>T (p.I321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45541269C>T" "" "benign" "" "0000572260" "0" "30" "22" "45938082" "45938082" "subst" "4.06075E-6" "01943" "FBLN1_000008" "g.45938082C>T" "" "" "" "FBLN1(NM_006486.2):c.1114C>T (p.R372C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45542202C>T" "" "likely benign" "" "0000572261" "0" "30" "22" "45938088" "45938088" "subst" "0.000905576" "01804" "FBLN1_000009" "g.45938088G>A" "" "" "" "FBLN1(NM_001996.3):c.1120G>A (p.(Val374Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45542208G>A" "" "likely benign" "" "0000572262" "0" "10" "22" "45943011" "45943011" "subst" "0.00129952" "01943" "FBLN1_000010" "g.45943011C>T" "" "" "" "FBLN1(NM_006486.2):c.1368C>T (p.N456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45547131C>T" "" "benign" "" "0000572263" "0" "30" "22" "45943012" "45943012" "subst" "0.000491394" "01804" "FBLN1_000011" "g.45943012G>A" "" "" "" "FBLN1(NM_001996.3):c.1369G>A (p.(Val457Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45547132G>A" "" "likely benign" "" "0000572264" "0" "30" "22" "45960864" "45960864" "subst" "0.00123531" "01804" "FBLN1_000012" "g.45960864G>T" "" "" "" "FBLN1(NM_006485.3):c.1798G>T (p.(Asp600Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45564984G>T" "" "likely benign" "" "0000572265" "0" "30" "22" "45972926" "45972926" "subst" "4.06101E-5" "01804" "FBLN1_000013" "g.45972926C>T" "" "" "" "FBLN1(NM_006486.2):c.1910C>T (p.(Thr637Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45577046C>T" "" "likely benign" "" "0000572266" "0" "30" "22" "45972941" "45972941" "subst" "0.00177884" "01804" "FBLN1_000014" "g.45972941G>T" "" "" "" "FBLN1(NM_006486.2):c.1925G>T (p.R642L, p.(Arg642Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45577061G>T" "" "likely benign" "" "0000572267" "0" "30" "22" "45996298" "45996298" "subst" "0.0169819" "01804" "FBLN1_000015" "g.45996298A>G" "" "" "" "FBLN1(NM_006486.2):c.2084A>G (p.(His695Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45600418A>G" "" "likely benign" "" "0000618630" "0" "30" "22" "45923855" "45923855" "subst" "0.000657836" "01943" "FBLN1_000016" "g.45923855C>T" "" "" "" "FBLN1(NM_006486.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45527975C>T" "" "likely benign" "" "0000618631" "0" "30" "22" "45931223" "45931223" "subst" "0.000828622" "01804" "FBLN1_000017" "g.45931223A>C" "" "" "" "FBLN1(NM_001996.3):c.922+6A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45535343A>C" "" "likely benign" "" "0000618632" "0" "50" "22" "45972941" "45972941" "subst" "0.00177884" "01943" "FBLN1_000014" "g.45972941G>T" "" "" "" "FBLN1(NM_006486.2):c.1925G>T (p.R642L, p.(Arg642Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45577061G>T" "" "VUS" "" "0000651003" "1" "30" "22" "45972941" "45972941" "subst" "0.00177884" "03575" "FBLN1_000014" "g.45972941G>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs143377110}" "Germline" "" "rs143377110" "0" "" "" "g.45577061G>T" "" "likely benign" "" "0000651004" "1" "10" "22" "45996298" "45996298" "subst" "0.0169819" "03575" "FBLN1_000015" "g.45996298A>G" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs13268}" "Germline" "" "rs13268" "0" "" "" "g.45600418A>G" "" "benign" "" "0000681912" "0" "30" "22" "45898896" "45898896" "subst" "0" "01943" "FBLN1_000018" "g.45898896C>T" "" "" "" "FBLN1(NM_006486.2):c.31C>T (p.P11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681913" "0" "30" "22" "45921523" "45921523" "subst" "7.39009E-5" "01943" "FBLN1_000019" "g.45921523G>A" "" "" "" "FBLN1(NM_001996.3):c.286G>A (p.(Gly96Ser)), FBLN1(NM_006486.2):c.286G>A (p.G96S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681914" "0" "30" "22" "45937194" "45937194" "subst" "8.12117E-6" "01943" "FBLN1_000020" "g.45937194G>A" "" "" "" "FBLN1(NM_006486.2):c.1008G>A (p.K336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681915" "0" "30" "22" "45937198" "45937198" "subst" "0.000227395" "01804" "FBLN1_000021" "g.45937198G>A" "" "" "" "FBLN1(NM_001996.3):c.1012G>A (p.(Val338Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681916" "0" "30" "22" "45938051" "45938051" "subst" "2.84262E-5" "01943" "FBLN1_000022" "g.45938051G>A" "" "" "" "FBLN1(NM_006486.2):c.1083G>A (p.A361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681917" "0" "50" "22" "45938125" "45938125" "subst" "0.000142137" "01943" "FBLN1_000023" "g.45938125C>T" "" "" "" "FBLN1(NM_006486.2):c.1157C>T (p.T386M), FBLN1(NM_006486.3):c.1157C>T (p.(Thr386Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693210" "0" "50" "22" "45996248" "45996248" "dup" "0" "01943" "FBLN1_000024" "g.45996248dup" "" "" "" "FBLN1(NM_006486.2):c.2034dupG (p.N679Efs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697983" "3" "50" "22" "45946495" "45946495" "subst" "0.000333011" "00006" "FBLN1_000025" "g.45946495C>T" "" "{PMID:Slavotinek 2015:25457163}" "" "1607C>T" "erroneous variant description 1607C>T (Thr566Ile), derived from FigS2D" "Germline" "" "" "0" "" "" "g.45550615C>T" "" "VUS" "" "0000728200" "0" "50" "22" "45929715" "45929715" "subst" "2.0332E-5" "01804" "FBLN1_000026" "g.45929715C>T" "" "" "" "FBLN1(NM_001996.3):c.721C>T (p.(Arg241Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763711" "0" "90" "22" "45996298" "45996298" "subst" "0.0169819" "00000" "FBLN1_000015" "g.45996298A>G" "" "{PMID:Duvvari 2016:27007659}" "" "2084A>G" "" "Germline" "" "rs13268" "0" "" "" "g.45600418A>G" "" "likely pathogenic" "" "0000809663" "0" "30" "22" "45943094" "45943094" "subst" "0" "01943" "FBLN1_000027" "g.45943094C>T" "" "" "" "FBLN1(NM_006486.2):c.1441+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809664" "0" "50" "22" "45944540" "45944540" "subst" "1.21903E-5" "01804" "FBLN1_000028" "g.45944540C>T" "" "" "" "FBLN1(NM_001996.3):c.1489C>T (p.(Arg497Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866886" "0" "30" "22" "45921523" "45921523" "subst" "7.39009E-5" "01804" "FBLN1_000019" "g.45921523G>A" "" "" "" "FBLN1(NM_001996.3):c.286G>A (p.(Gly96Ser)), FBLN1(NM_006486.2):c.286G>A (p.G96S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895786" "0" "30" "22" "45923871" "45923871" "subst" "2.03064E-5" "01804" "FBLN1_000029" "g.45923871G>A" "" "" "" "FBLN1(NM_001996.3):c.466G>A (p.(Gly156Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895787" "0" "30" "22" "45938162" "45938162" "subst" "2.03272E-5" "01804" "FBLN1_000030" "g.45938162C>T" "" "" "" "FBLN1(NM_001996.3):c.1194C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895788" "0" "50" "22" "45958908" "45958908" "subst" "0" "01804" "FBLN1_000031" "g.45958908G>T" "" "" "" "FBLN1(NM_001996.3):c.1814G>T (p.(Arg605Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895789" "0" "50" "22" "45996252" "45996252" "subst" "0" "01804" "FBLN1_000032" "g.45996252T>G" "" "" "" "FBLN1(NM_006486.2):c.2038T>G (p.(Tyr680Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915558" "0" "30" "22" "45938122" "45938122" "subst" "0" "01804" "FBLN1_000033" "g.45938122A>G" "" "" "" "FBLN1(NM_001996.3):c.1154A>G (p.(Lys385Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927192" "0" "50" "22" "45944519" "45944519" "subst" "4.4738E-5" "01804" "FBLN1_000034" "g.45944519G>A" "" "" "" "FBLN1(NM_001996.3):c.1468G>A (p.(Gly490Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951627" "0" "30" "22" "45996316" "45996316" "subst" "0" "01804" "FBLN1_000035" "g.45996316A>C" "" "" "" "FBLN1(NM_006486.2):c.2102A>C (p.(Tyr701Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984293" "0" "30" "22" "45943039" "45943039" "subst" "5.68579E-5" "01804" "FBLN1_000036" "g.45943039C>T" "" "" "" "FBLN1(NM_006486.3):c.1396C>T (p.(Arg466Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984294" "0" "30" "22" "45958823" "45958823" "subst" "0.0011414" "01804" "FBLN1_000037" "g.45958823C>T" "" "" "" "FBLN1(NM_001996.4):c.1729C>T (p.(Arg577Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006209" "0" "50" "22" "45914571" "45914571" "subst" "6.05432E-5" "01804" "FBLN1_000038" "g.45914571A>G" "" "" "" "FBLN1(NM_006486.2):c.89A>G (p.(Asp30Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006210" "0" "50" "22" "45921505" "45921505" "subst" "2.01833E-5" "01804" "FBLN1_000039" "g.45921505C>T" "" "" "" "FBLN1(NM_006486.2):c.268C>T (p.(Arg90Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006211" "0" "30" "22" "45938160" "45938160" "subst" "5.6912E-5" "01804" "FBLN1_000040" "g.45938160G>A" "" "" "" "FBLN1(NM_006486.2):c.1192G>A (p.(Val398Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006212" "0" "50" "22" "45943089" "45943089" "subst" "9.36322E-5" "01804" "FBLN1_000041" "g.45943089G>A" "" "" "" "FBLN1(NM_006486.2):c.1441+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006213" "0" "50" "22" "45946483" "45946483" "subst" "7.71737E-5" "01804" "FBLN1_000042" "g.45946483G>A" "" "" "" "FBLN1(NM_006486.2):c.1685G>A (p.(Arg562His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006214" "0" "50" "22" "45946496" "45946496" "subst" "0" "01804" "FBLN1_000043" "g.45946496G>A" "" "" "" "FBLN1(NM_006486.2):c.1697+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006215" "0" "50" "22" "45959078" "45959078" "subst" "4.06402E-6" "01804" "FBLN1_000044" "g.45959078C>G" "" "" "" "FBLN1(NM_001996.3):c.1984C>G (p.(Leu662Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006216" "0" "50" "22" "45960802" "45960802" "subst" "8.12255E-6" "01804" "FBLN1_000045" "g.45960802G>T" "" "" "" "FBLN1(NM_006485.3):c.1736G>T (p.(Gly579Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006217" "0" "30" "22" "45996205" "45996205" "subst" "8.16927E-6" "01804" "FBLN1_000046" "g.45996205G>A" "" "" "" "FBLN1(NM_006486.2):c.1991G>A (p.(Arg664Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043919" "0" "50" "22" "45914606" "45914606" "subst" "0" "01804" "FBLN1_000047" "g.45914606C>T" "" "" "" "FBLN1(NM_006486.3):c.124C>T (p.(Arg42Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043920" "0" "50" "22" "45929725" "45929725" "subst" "1.21967E-5" "01804" "FBLN1_000048" "g.45929725G>A" "" "" "" "FBLN1(NM_006486.3):c.731G>A (p.(Arg244Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043921" "0" "30" "22" "45937101" "45937101" "subst" "2.84245E-5" "01804" "FBLN1_000049" "g.45937101C>T" "" "" "" "FBLN1(NM_006486.3):c.923-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043922" "0" "50" "22" "45938115" "45938115" "subst" "0" "01804" "FBLN1_000050" "g.45938115G>C" "" "" "" "FBLN1(NM_006486.3):c.1147G>C (p.(Glu383Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043923" "0" "30" "22" "45938125" "45938125" "subst" "0.000142137" "01804" "FBLN1_000023" "g.45938125C>T" "" "" "" "FBLN1(NM_006486.2):c.1157C>T (p.T386M), FBLN1(NM_006486.3):c.1157C>T (p.(Thr386Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043924" "0" "50" "22" "45938164" "45938164" "subst" "0" "01804" "FBLN1_000051" "g.45938164G>T" "" "" "" "FBLN1(NM_006486.3):c.1195+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043925" "0" "30" "22" "45958793" "45958793" "subst" "8.53902E-5" "01804" "FBLN1_000052" "g.45958793C>T" "" "" "" "FBLN1(NM_001996.4):c.1699C>T (p.(Arg567Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043926" "0" "30" "22" "45970384" "45970384" "subst" "0.000146443" "01804" "FBLN1_000053" "g.45970384C>T" "" "" "" "FBLN1(NM_006486.3):c.1698-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043927" "0" "50" "22" "45970404" "45970404" "subst" "0" "01804" "FBLN1_000054" "g.45970404A>C" "" "" "" "FBLN1(NM_006486.3):c.1711A>C (p.(Lys571Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043928" "0" "50" "22" "45972919" "45972919" "subst" "4.06114E-6" "01804" "FBLN1_000055" "g.45972919G>A" "" "" "" "FBLN1(NM_006486.3):c.1903G>A (p.(Asp635Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043929" "0" "30" "22" "45972940" "45972940" "subst" "5.27975E-5" "01804" "FBLN1_000056" "g.45972940C>T" "" "" "" "FBLN1(NM_006486.3):c.1924C>T (p.(Arg642Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043930" "0" "30" "22" "45996267" "45996267" "subst" "2.84456E-5" "01804" "FBLN1_000057" "g.45996267G>A" "" "" "" "FBLN1(NM_006486.3):c.2053G>A (p.(Val685Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043931" "0" "30" "22" "45996294" "45996294" "subst" "5.68542E-5" "01804" "FBLN1_000058" "g.45996294G>A" "" "" "" "FBLN1(NM_006486.3):c.2080G>A (p.(Val694Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043932" "0" "50" "22" "45996305" "45996305" "subst" "0" "01804" "FBLN1_000059" "g.45996305C>A" "" "" "" "FBLN1(NM_006486.3):c.2091C>A (p.(Phe697Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057210" "0" "50" "22" "45931155" "45931155" "subst" "2.03031E-5" "01804" "FBLN1_000060" "g.45931155G>A" "" "" "" "FBLN1(NM_006486.3):c.860G>A (p.(Arg287His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057211" "0" "50" "22" "45939338" "45939338" "subst" "4.06736E-5" "01804" "FBLN1_000061" "g.45939338C>T" "" "" "" "FBLN1(NM_006486.3):c.1253C>T (p.(Thr418Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057212" "0" "50" "22" "45958866" "45958866" "subst" "0" "01804" "FBLN1_000062" "g.45958866T>A" "" "" "" "FBLN1(NM_001996.4):c.1772T>A (p.(Leu591His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057213" "0" "30" "22" "45958958" "45958958" "subst" "5.69096E-5" "01804" "FBLN1_000063" "g.45958958A>G" "" "" "" "FBLN1(NM_001996.4):c.1864A>G (p.(Thr622Ala))" "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 FBLN1 ## Count = 72 "{{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}}" "0000079072" "00007757" "00" "80" "-1000" "80" "-1000" "c.80-1000G>A" "r.(=)" "p.(=)" "" "0000079082" "00007757" "00" "80" "-1000" "80" "-1000" "c.80-1000G>A" "r.(=)" "p.(=)" "" "0000079124" "00007757" "00" "80" "-1000" "80" "-1000" "c.80-1000G>A" "r.(=)" "p.(=)" "" "0000079195" "00007757" "00" "80" "-1000" "80" "-1000" "c.80-1000G>A" "r.(=)" "p.(=)" "" "0000248877" "00007757" "10" "422" "0" "422" "0" "c.422=" "r.(=)" "p.(Arg141=)" "" "0000287204" "00007757" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(Cys360=)" "" "0000287205" "00007757" "30" "1209" "0" "1209" "0" "c.1209C>T" "r.(?)" "p.(Cys403=)" "" "0000572257" "00007757" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ala25Val)" "" "0000572258" "00007757" "30" "923" "-7" "923" "-7" "c.923-7G>A" "r.(=)" "p.(=)" "" "0000572259" "00007757" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ile321=)" "" "0000572260" "00007757" "30" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Arg372Cys)" "" "0000572261" "00007757" "30" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Val374Met)" "" "0000572262" "00007757" "10" "1368" "0" "1368" "0" "c.1368C>T" "r.(?)" "p.(Asn456=)" "" "0000572263" "00007757" "30" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Ile)" "" "0000572264" "00007757" "30" "1698" "-9527" "1698" "-9527" "c.1698-9527G>T" "r.(=)" "p.(=)" "" "0000572265" "00007757" "30" "1910" "0" "1910" "0" "c.1910C>T" "r.(?)" "p.(Thr637Met)" "" "0000572266" "00007757" "30" "1925" "0" "1925" "0" "c.1925G>T" "r.(?)" "p.(Arg642Leu)" "" "0000572267" "00007757" "30" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(His695Arg)" "" "0000618630" "00007757" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Thr150=)" "" "0000618631" "00007757" "30" "922" "6" "922" "6" "c.922+6A>C" "r.(=)" "p.(=)" "" "0000618632" "00007757" "50" "1925" "0" "1925" "0" "c.1925G>T" "r.(?)" "p.(Arg642Leu)" "" "0000651003" "00007757" "30" "1925" "0" "1925" "0" "c.1925G>T" "r.(?)" "p.(Arg642Leu)" "" "0000651004" "00007757" "10" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(His695Arg)" "" "0000681912" "00007757" "30" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Pro11Ser)" "" "0000681913" "00007757" "30" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "" "0000681914" "00007757" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Lys336=)" "" "0000681915" "00007757" "30" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Val338Met)" "" "0000681916" "00007757" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Ala361=)" "" "0000681917" "00007757" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Thr386Met)" "" "0000693210" "00007757" "50" "2034" "0" "2034" "0" "c.2034dup" "r.(?)" "p.(Asn679GlufsTer22)" "" "0000697983" "00007757" "50" "1697" "0" "1697" "0" "c.1697C>T" "r.spl?" "p.(Thr566Met)" "" "0000728200" "00007757" "50" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000763711" "00007757" "90" "2084" "0" "2084" "0" "c.2084A>G" "r.(?)" "p.(His695Arg)" "" "0000809663" "00007757" "30" "1441" "10" "1441" "10" "c.1441+10C>T" "r.(=)" "p.(=)" "" "0000809664" "00007757" "50" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Cys)" "" "0000866886" "00007757" "30" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Gly96Ser)" "" "0000895786" "00007757" "30" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Arg)" "" "0000895787" "00007757" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Val398=)" "" "0000895788" "00007757" "50" "1698" "-11483" "1698" "-11483" "c.1698-11483G>T" "r.(=)" "p.(=)" "" "0000895789" "00007757" "50" "2038" "0" "2038" "0" "c.2038T>G" "r.(?)" "p.(Tyr680Asp)" "" "0000915558" "00007757" "30" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Lys385Arg)" "" "0000927192" "00007757" "50" "1468" "0" "1468" "0" "c.1468G>A" "r.(?)" "p.(Gly490Arg)" "" "0000951627" "00007757" "30" "2102" "0" "2102" "0" "c.2102A>C" "r.(?)" "p.(Tyr701Ser)" "" "0000984293" "00007757" "30" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Trp)" "" "0000984294" "00007757" "30" "1698" "-11568" "1698" "-11568" "c.1698-11568C>T" "r.(=)" "p.(=)" "" "0001006209" "00007757" "50" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Asp30Gly)" "" "0001006210" "00007757" "50" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Cys)" "" "0001006211" "00007757" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Ile)" "" "0001006212" "00007757" "50" "1441" "5" "1441" "5" "c.1441+5G>A" "r.spl?" "p.?" "" "0001006213" "00007757" "50" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562His)" "" "0001006214" "00007757" "50" "1697" "1" "1697" "1" "c.1697+1G>A" "r.spl?" "p.?" "" "0001006215" "00007757" "50" "1698" "-11313" "1698" "-11313" "c.1698-11313C>G" "r.(=)" "p.(=)" "" "0001006216" "00007757" "50" "1698" "-9589" "1698" "-9589" "c.1698-9589G>T" "r.(=)" "p.(=)" "" "0001006217" "00007757" "30" "1991" "0" "1991" "0" "c.1991G>A" "r.(?)" "p.(Arg664Gln)" "" "0001043919" "00007757" "50" "124" "0" "124" "0" "c.124C>T" "r.(?)" "p.(Arg42Trp)" "" "0001043920" "00007757" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244Gln)" "" "0001043921" "00007757" "30" "923" "-8" "923" "-8" "c.923-8C>T" "r.(=)" "p.(=)" "" "0001043922" "00007757" "50" "1147" "0" "1147" "0" "c.1147G>C" "r.(?)" "p.(Glu383Gln)" "" "0001043923" "00007757" "30" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Thr386Met)" "" "0001043924" "00007757" "50" "1195" "1" "1195" "1" "c.1195+1G>T" "r.spl?" "p.?" "" "0001043925" "00007757" "30" "1698" "-11598" "1698" "-11598" "c.1698-11598C>T" "r.(=)" "p.(=)" "" "0001043926" "00007757" "30" "1698" "-7" "1698" "-7" "c.1698-7C>T" "r.(=)" "p.(=)" "" "0001043927" "00007757" "50" "1711" "0" "1711" "0" "c.1711A>C" "r.(?)" "p.(Lys571Gln)" "" "0001043928" "00007757" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Asp635Asn)" "" "0001043929" "00007757" "30" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Arg642Trp)" "" "0001043930" "00007757" "30" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Met)" "" "0001043931" "00007757" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Val694Ile)" "" "0001043932" "00007757" "50" "2091" "0" "2091" "0" "c.2091C>A" "r.(?)" "p.(Phe697Leu)" "" "0001057210" "00007757" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287His)" "" "0001057211" "00007757" "50" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Thr418Met)" "" "0001057212" "00007757" "50" "1698" "-11525" "1698" "-11525" "c.1698-11525T>A" "r.(=)" "p.(=)" "" "0001057213" "00007757" "30" "1698" "-11433" "1698" "-11433" "c.1698-11433A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000050120" "0000079072" "0000050130" "0000079082" "0000050172" "0000079124" "0000050243" "0000079195" "0000294314" "0000651003" "0000294315" "0000651004" "0000315881" "0000697983" "0000363227" "0000763711"