### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LRP1) # 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}}" "LRP1" "low density lipoprotein receptor-related protein 1" "12" "q13-q14" "unknown" "NG_016444.1" "UD_129723951493" "" "https://www.LOVD.nl/LRP1" "" "1" "6692" "4035" "107770" "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/LRP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-07-15 12:22:46" "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}}" "00001358" "LRP1" "low density lipoprotein receptor-related protein 1" "001" "NM_002332.2" "" "NP_002323.2" "" "" "" "-466" "14439" "13635" "57522282" "57607142" "00000" "2012-09-13 13:28:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" "05520" "migraine" "migraine (MGR)" "" "" "" "" "" "00006" "2018-11-18 16:51:01" "00006" "2020-09-02 08:49:23" "05789" "KPA" "keratosis pilaris atrophicans (KPA)" "AR" "604093" "" "" "" "00006" "2020-07-15 12:26:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LRP1" "05789" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00183054" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "M" "" "Netherlands" "" "0" "" "" "" "23033978-Trio39" "00306818" "" "" "" "4" "" "00006" "{PMID:Klar 2015:26142438}, {DOI:Klar 2015:10.1136/jmedgenet-2014-102931}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Sweden" "" "0" "" "" "Pakistan" "family" "00309730" "" "" "" "1" "" "00006" "{PMID:Chasman 2011:21666692}, {DOI:Chasman 2011:10.1038/ng.856}" "" "" "" "United States" "" "0" "" "" "" "" "00327053" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "single affected female of a 4 person family. 2 unaffected parents, and 1 unaffected sister, presumed autosomal recessive." "F" "no" "Canada" "" "0" "Yes" "" "" "M54 II-1" "00327401" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "" "F" "no" "Canada" "" "" "" "" "Originally from India" "M70 II-1" "00385980" "" "" "" "9" "" "00000" "{PMID:Maranhao-2014:24603341}" "The parents of all affected members were unaffected." "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00453742" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV337" "00453800" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV348" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00183054" "00139" "00306818" "05789" "00309730" "05520" "00327053" "05412" "00327401" "05412" "00385980" "04214" "00453742" "00152" "00453800" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 01157, 04214, 05412, 05520, 05789 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000143807" "00139" "00183054" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "0000232647" "05789" "00306818" "00006" "Familial, autosomal recessive" "" "see paper; ..., perifollicular keratosis and inflammation progressing to atrophy and scars facial skin" "" "" "" "" "" "" "" "KPA" "keratosis pilaris atrophicans" "0000245500" "05412" "00327053" "03980" "Familial, autosomal recessive" "42y" "Fundus: Multiple large, confluent drusen in the central macula and nasal retina\t\r\nOcular Coherence Tomography (OCT): Numerous confluent drusen in the macula\r\n\r\nVision at time of examination was unaffected." "" "" "" "" "" "" "" "" "Bilateral, Symmetrical, Cuticular Drusen" "0000279781" "04214" "00385980" "00000" "Familial, autosomal recessive" "" "night blindness with onset in early childhood" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "0000342399" "00152" "00453742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "0000342457" "00152" "00453800" "00006" "Unknown" "" "aortic valvuloplasty; Kawasaki disease with coronary aneurysms" "" "" "" "" "" "" "" "" "bicuspid aortic valve" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000184014" "00183054" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000307954" "00306818" "1" "00006" "00006" "2020-07-20 15:07:12" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000310875" "00309730" "1" "00006" "00006" "2020-09-02 08:43:35" "" "" "arraySNP" "DNA" "" "" "0000328268" "00327053" "1" "03980" "03980" "2021-01-19 23:24:58" "" "" "SEQ-NG" "DNA" "" "" "0000328613" "00327401" "1" "03980" "03980" "2021-01-20 22:31:07" "" "" "SEQ-NG" "DNA" "" "" "0000387208" "00385980" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;arraySNP" "DNA" "blood" "only individuals V:4, V:5, V:9, and V:16 were exome sequenced." "0000455354" "00453742" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455412" "00453800" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000307954" "LRP1" "0000387208" "LRP1" ## 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 = 63 "{{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}}" "0000013100" "3" "50" "12" "57605168" "57605168" "subst" "0.998305" "00037" "LRP1_000001" "g.57605168T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.57211385T>C" "" "VUS" "" "0000248771" "0" "10" "12" "57572366" "57572366" "subst" "0" "02325" "LRP1_000039" "g.57572366A>C" "" "" "" "LRP1(NM_002332.3):c.4586A>C (p.H1529P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57178583A>C" "" "benign" "" "0000248881" "0" "10" "12" "57589784" "57589784" "subst" "0.997578" "02325" "LRP1_000019" "g.57589784A>C" "" "" "" "LRP1(NM_002332.3):c.8699A>C (p.Q2900P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57196001A>C" "" "benign" "" "0000282283" "0" "10" "12" "57535266" "57535266" "subst" "0.129189" "02325" "LRP1_000003" "g.57535266C>T" "" "" "" "LRP1(NM_002332.3):c.300C>T (p.D100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57141483C>T" "" "benign" "" "0000282284" "0" "10" "12" "57585144" "57585144" "subst" "0.624397" "02325" "LRP1_000014" "g.57585144C>T" "" "" "" "LRP1(NM_002332.3):c.7278C>T (p.A2426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57191361C>T" "" "benign" "" "0000282285" "0" "10" "12" "57589865" "57589865" "subst" "0.617866" "02325" "LRP1_000020" "g.57589865C>T" "" "" "" "LRP1(NM_002332.3):c.8702-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57196082C>T" "" "benign" "" "0000282286" "0" "10" "12" "57593101" "57593101" "subst" "0.622033" "02325" "LRP1_000021" "g.57593101G>A" "" "" "" "LRP1(NM_002332.3):c.9783G>A (p.T3261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57199318G>A" "" "benign" "" "0000291115" "0" "50" "12" "57548305" "57548305" "subst" "1.21847E-5" "01943" "LRP1_000004" "g.57548305C>T" "" "" "" "LRP1(NM_002332.2):c.1048C>T (p.R350C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57154522C>T" "" "VUS" "" "0000291116" "0" "30" "12" "57597252" "57597252" "subst" "3.99297E-5" "01943" "LRP1_000022" "g.57597252C>T" "" "" "" "LRP1(NM_002332.2):c.10899C>T (p.D3633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57203469C>T" "" "likely benign" "" "0000291117" "0" "30" "12" "57602909" "57602909" "subst" "0.000178738" "01943" "LRP1_000027" "g.57602909C>T" "" "" "" "LRP1(NM_002332.2):c.12189C>T (p.D4063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57209126C>T" "" "likely benign" "" "0000291118" "0" "30" "12" "57587791" "57587791" "subst" "1.62729E-5" "01943" "LRP1_000016" "g.57587791C>T" "" "" "" "LRP1(NM_002332.2):c.7914C>T (p.N2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57194008C>T" "" "likely benign" "" "0000291119" "0" "50" "12" "57589107" "57589107" "subst" "0.000146651" "01943" "LRP1_000018" "g.57589107G>A" "" "" "" "LRP1(NM_002332.2):c.8362G>A (p.V2788I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57195324G>A" "" "VUS" "" "0000322946" "0" "50" "12" "57560731" "57560731" "subst" "1.62986E-5" "01804" "LRP1_000007" "g.57560731A>G" "" "" "" "LRP1(NM_002332.2):c.2816A>G (p.(Asn939Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57166948A>G" "" "VUS" "" "0000322947" "0" "50" "12" "57566995" "57566995" "subst" "2.85114E-5" "01804" "LRP1_000008" "g.57566995C>T" "" "" "" "LRP1(NM_002332.2):c.3208C>T (p.(Arg1070Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57173212C>T" "" "VUS" "" "0000322950" "0" "50" "12" "57574261" "57574261" "subst" "8.14107E-6" "01804" "LRP1_000011" "g.57574261G>A" "" "" "" "LRP1(NM_002332.2):c.5385G>A (p.(Met1795Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57180478G>A" "" "VUS" "" "0000322952" "0" "50" "12" "57577981" "57577981" "subst" "2.03628E-5" "01804" "LRP1_000013" "g.57577981G>A" "" "" "" "LRP1(NM_002332.2):c.6043G>A (p.(Val2015Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57184198G>A" "" "VUS" "" "0000322953" "0" "50" "12" "57586753" "57586753" "subst" "4.10314E-6" "01804" "LRP1_000015" "g.57586753G>A" "" "" "" "LRP1(NM_002332.2):c.7555G>A (p.(Ala2519Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57192970G>A" "" "VUS" "" "0000322954" "0" "50" "12" "57588181" "57588181" "subst" "2.84839E-5" "01804" "LRP1_000017" "g.57588181G>A" "" "" "" "LRP1(NM_002332.2):c.7963G>A (p.(Val2655Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57194398G>A" "" "VUS" "" "0000322960" "0" "50" "12" "57604564" "57604564" "subst" "0.000101731" "01804" "LRP1_000029" "g.57604564C>T" "" "" "" "LRP1(NM_002332.2):c.12818C>T (p.(Ala4273Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57210781C>T" "" "VUS" "" "0000338436" "0" "10" "12" "57594955" "57594955" "subst" "0.225117" "02327" "LRP1_000037" "g.57594955G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57201172G>A" "" "benign" "" "0000342359" "0" "50" "12" "57584685" "57584685" "subst" "0" "02327" "LRP1_000036" "g.57584685C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57190902C>T" "" "VUS" "" "0000342825" "0" "50" "12" "57548458" "57548458" "subst" "0" "02327" "LRP1_000032" "g.57548458C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57154675C>T" "" "VUS" "" "0000351292" "0" "10" "12" "57567723" "57567723" "subst" "0.00399646" "02327" "LRP1_000033" "g.57567723C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57173940C>T" "" "benign" "" "0000351293" "0" "10" "12" "57567762" "57567762" "subst" "0.354336" "02327" "LRP1_000034" "g.57567762C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57173979C>T" "" "benign" "" "0000351294" "0" "10" "12" "57569478" "57569478" "subst" "0.0500553" "02327" "LRP1_000035" "g.57569478C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57175695C>T" "" "benign" "" "0000351295" "0" "10" "12" "57596324" "57596324" "subst" "0.00383007" "02327" "LRP1_000038" "g.57596324C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57202541C>T" "" "benign" "" "0000407952" "0" "70" "12" "57593092" "57593092" "subst" "0" "00006" "LRP1_000040" "g.57593092C>G" "" "{PMID:de Ligt 2012:23033978}" "" "NM_002332.2:c.9774C>G (His3258Gln)" "candidate variant" "De novo" "" "" "0" "" "" "g.57199309C>G" "" "VUS" "" "0000548744" "0" "30" "12" "57539194" "57539194" "subst" "0.000568796" "01943" "LRP1_000041" "g.57539194G>A" "" "" "" "LRP1(NM_002332.2):c.762G>A (p.T254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57145411G>A" "" "likely benign" "" "0000548747" "0" "30" "12" "57569339" "57569339" "subst" "0.00362498" "01804" "LRP1_000044" "g.57569339G>A" "" "" "" "LRP1(NM_002332.2):c.3644G>A (p.(Gly1215Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57175556G>A" "" "likely benign" "" "0000548748" "0" "30" "12" "57572217" "57572217" "subst" "0.000215262" "01943" "LRP1_000045" "g.57572217G>A" "" "" "" "LRP1(NM_002332.2):c.4437G>A (p.S1479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57178434G>A" "" "likely benign" "" "0000548750" "0" "50" "12" "57577257" "57577257" "subst" "0" "02327" "LRP1_000047" "g.57577257G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57183474G>A" "" "VUS" "" "0000548752" "0" "30" "12" "57585281" "57585281" "subst" "0.00123122" "01804" "LRP1_000049" "g.57585281A>G" "" "" "" "LRP1(NM_002332.2):c.7415A>G (p.(Asn2472Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57191498A>G" "" "likely benign" "" "0000548753" "0" "30" "12" "57586721" "57586721" "subst" "6.50983E-5" "01804" "LRP1_000050" "g.57586721G>A" "" "" "" "LRP1(NM_002332.2):c.7523G>A (p.(Gly2508Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57192938G>A" "" "likely benign" "" "0000548755" "0" "30" "12" "57587715" "57587715" "subst" "0.00238579" "01804" "LRP1_000052" "g.57587715G>A" "" "" "" "LRP1(NM_002332.2):c.7838G>A (p.(Arg2613Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57193932G>A" "" "likely benign" "" "0000548756" "0" "10" "12" "57590869" "57590869" "subst" "0.996502" "02325" "LRP1_000053" "g.57590869T>C" "" "" "" "LRP1(NM_002332.3):c.8997T>C (p.T2999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57197086T>C" "" "benign" "" "0000548757" "0" "30" "12" "57598212" "57598212" "subst" "2.01495E-5" "01943" "LRP1_000054" "g.57598212C>T" "" "" "" "LRP1(NM_002332.2):c.10971C>T (p.D3657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57204429C>T" "" "likely benign" "" "0000548758" "0" "50" "12" "57598267" "57598267" "subst" "0" "01804" "LRP1_000055" "g.57598267G>A" "" "" "" "LRP1(NM_002332.2):c.11026G>A (p.(Glu3676Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57204484G>A" "" "VUS" "" "0000548759" "0" "30" "12" "57598512" "57598512" "subst" "0.00102793" "01804" "LRP1_000056" "g.57598512G>A" "" "" "" "LRP1(NM_002332.2):c.11174G>A (p.(Gly3725Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57204729G>A" "" "likely benign" "" "0000548761" "0" "50" "12" "57600525" "57600525" "subst" "0" "02327" "LRP1_000058" "g.57600525G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57206742G>A" "" "VUS" "" "0000548762" "0" "30" "12" "57602494" "57602494" "subst" "2.44858E-5" "01943" "LRP1_000059" "g.57602494G>C" "" "" "" "LRP1(NM_002332.2):c.12039G>C (p.G4013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57208711G>C" "" "likely benign" "" "0000548763" "0" "50" "12" "57604594" "57604594" "subst" "0" "01943" "LRP1_000060" "g.57604594C>T" "" "" "" "LRP1(NM_002332.2):c.12848C>T (p.T4283I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57210811C>T" "" "VUS" "" "0000548764" "0" "50" "12" "57604965" "57604965" "subst" "0" "01804" "LRP1_000061" "g.57604965G>T" "" "" "" "LRP1(NM_002332.2):c.12923G>T (p.(Cys4308Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57211182G>T" "" "VUS" "" "0000614316" "0" "50" "12" "57572362" "57572362" "subst" "0" "01804" "LRP1_000063" "g.57572362T>G" "" "" "" "LRP1(NM_002332.2):c.4582T>G (p.(Tyr1528Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57178579T>G" "" "VUS" "" "0000674790" "3" "90" "12" "57569429" "57569429" "subst" "4.17422E-6" "00006" "LRP1_000064" "g.57569429A>G" "" "{PMID:Klar 2015:26142438}, {DOI:Klar 2015:10.1136/jmedgenet-2014-102931}" "" "" "LRP1 mRNA 0.2 of normal" "Germline" "yes" "" "0" "" "" "g.57175646A>G" "" "pathogenic (recessive)" "" "0000685581" "0" "11" "12" "57527283" "57527283" "subst" "0" "01928" "LRP1_000065" "g.57527283T>C" "C=0.405240 ALFA project" "{PMID:Chasman 2011:21666692}, {DOI:Chasman 2011:10.1038/ng.856}" "HpaII+" "" "" "Germline" "" "rs11172113" "0" "" "" "g.57133500T>C" "not in ClinVar" "association" "" "0000712216" "21" "70" "12" "57539082" "57539082" "subst" "0.018247" "03980" "LRP1_000068" "g.57539082C>T" "0.0184" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs1800127" "0" "" "" "" "" "VUS" "" "0000712217" "0" "70" "12" "57592405" "57592405" "subst" "3.27356E-5" "03980" "LRP1_000069" "g.57592405G>C" "" "Doucette 2021, submitted" "" "" "Compound heterozygous with (p.Ala317Val)" "Germline" "yes" "rs769969579" "0" "" "" "" "" "VUS" "" "0000712570" "0" "70" "12" "57560825" "57560825" "subst" "0.00161694" "03980" "LRP1_000067" "g.57560825G>A" "0.001551" "Doucette 2021, submitted" "" "" "hypothesized variant may affect splicing, no functional data." "Germline" "yes" "rs78054559" "0" "" "" "g.57167042G>A" "" "VUS" "" "0000712571" "0" "70" "12" "57601891" "57601891" "subst" "0.000393989" "03980" "LRP1_000066" "g.57601891C>T" "0.000386" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs142650905" "0" "" "" "g.57208108C>T" "" "VUS" "" "0000805867" "0" "50" "12" "57579347" "57579347" "subst" "0" "01943" "LRP1_000070" "g.57579347G>A" "" "" "" "LRP1(NM_002332.2):c.6497G>A (p.C2166Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815087" "3" "90" "12" "57592066" "57592066" "subst" "0.000477294" "00000" "LRP1_000071" "g.57592066C>T" "0/95 unrelated Pakistani controls" "{PMID:Maranhao 2014:24603341}" "" "c.9410C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000863079" "0" "70" "12" "57605780" "57605780" "subst" "0" "02327" "LRP1_000072" "g.57605780G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967010" "0" "50" "12" "57532310" "57532310" "subst" "8.12334E-6" "02325" "LRP1_000073" "g.57532310C>T" "" "" "" "LRP1(NM_002332.3):c.136C>T (p.R46W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967012" "0" "50" "12" "57598413" "57598413" "subst" "4.06167E-6" "02325" "LRP1_000074" "g.57598413G>A" "" "" "" "LRP1(NM_002332.3):c.11075G>A (p.R3692Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967013" "0" "50" "12" "57599230" "57599230" "subst" "1.23351E-5" "02325" "LRP1_000075" "g.57599230C>T" "" "" "" "LRP1(NM_002332.3):c.11432C>T (p.S3811L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980396" "0" "50" "12" "57599386" "57599386" "subst" "0" "01804" "LRP1_000076" "g.57599386A>T" "" "" "" "LRP1(NM_002332.3):c.11516A>T (p.(Asn3839Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007519" "0" "70" "12" "57602592" "57602592" "subst" "0" "00006" "LRP1_000078" "g.57602592G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "" "0" "" "" "g.57208809G>A" "" "VUS" "" "0001007539" "0" "70" "12" "57593688" "57593688" "subst" "8.68953E-6" "00006" "LRP1_000077" "g.57593688T>G" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1341102367" "0" "" "" "g.57199905T>G" "" "VUS" "" "0001039382" "0" "50" "12" "57535286" "57535286" "subst" "8.13213E-6" "01804" "LRP1_000079" "g.57535286A>C" "" "" "" "LRP1(NM_002332.3):c.320A>C (p.(His107Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039383" "0" "50" "12" "57562939" "57562939" "subst" "2.0357E-5" "01804" "LRP1_000080" "g.57562939C>A" "" "" "" "LRP1(NM_002332.3):c.3012C>A (p.(Asp1004Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039384" "0" "50" "12" "57587008" "57587008" "subst" "0.00205954" "01804" "LRP1_000081" "g.57587008C>T" "" "" "" "LRP1(NM_002332.3):c.7605C>T (p.(Gly2535=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039385" "0" "50" "12" "57591997" "57591997" "subst" "0" "01804" "LRP1_000082" "g.57591997G>A" "" "" "" "LRP1(NM_002332.3):c.9341G>A (p.(Gly3114Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039386" "0" "50" "12" "57599365" "57599365" "subst" "0.000621749" "01804" "LRP1_000083" "g.57599365G>C" "" "" "" "LRP1(NM_002332.3):c.11495G>C (p.(Gly3832Ala))" "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 LRP1 ## Count = 63 "{{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}}" "0000013100" "00001358" "50" "13091" "35" "13091" "35" "c.13091+35T>C" "r.(=)" "p.(=)" "" "0000248771" "00001358" "10" "4586" "0" "4586" "0" "c.4586A>C" "r.(?)" "p.(His1529Pro)" "" "0000248881" "00001358" "10" "8699" "0" "8699" "0" "c.8699A>C" "r.(?)" "p.(Gln2900Pro)" "" "0000282283" "00001358" "10" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(Asp100=)" "" "0000282284" "00001358" "10" "7278" "0" "7278" "0" "c.7278C>T" "r.(?)" "p.(Ala2426=)" "" "0000282285" "00001358" "10" "8702" "-5" "8702" "-5" "c.8702-5C>T" "r.spl?" "p.?" "" "0000282286" "00001358" "10" "9783" "0" "9783" "0" "c.9783G>A" "r.(?)" "p.(Thr3261=)" "" "0000291115" "00001358" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Cys)" "" "0000291116" "00001358" "30" "10899" "0" "10899" "0" "c.10899C>T" "r.(?)" "p.(Asp3633=)" "" "0000291117" "00001358" "30" "12189" "0" "12189" "0" "c.12189C>T" "r.(?)" "p.(Asp4063=)" "" "0000291118" "00001358" "30" "7914" "0" "7914" "0" "c.7914C>T" "r.(?)" "p.(Asn2638=)" "" "0000291119" "00001358" "50" "8362" "0" "8362" "0" "c.8362G>A" "r.(?)" "p.(Val2788Ile)" "" "0000322946" "00001358" "50" "2816" "0" "2816" "0" "c.2816A>G" "r.(?)" "p.(Asn939Ser)" "" "0000322947" "00001358" "50" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070Trp)" "" "0000322950" "00001358" "50" "5385" "0" "5385" "0" "c.5385G>A" "r.(?)" "p.(Met1795Ile)" "" "0000322952" "00001358" "50" "6043" "0" "6043" "0" "c.6043G>A" "r.(?)" "p.(Val2015Ile)" "" "0000322953" "00001358" "50" "7555" "0" "7555" "0" "c.7555G>A" "r.(?)" "p.(Ala2519Thr)" "" "0000322954" "00001358" "50" "7963" "0" "7963" "0" "c.7963G>A" "r.(?)" "p.(Val2655Met)" "" "0000322960" "00001358" "50" "12818" "0" "12818" "0" "c.12818C>T" "r.(?)" "p.(Ala4273Val)" "" "0000338436" "00001358" "10" "10345" "19" "10345" "19" "c.10345+19G>A" "r.(=)" "p.(=)" "" "0000342359" "00001358" "50" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Arg2377Cys)" "" "0000342825" "00001358" "50" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Cys)" "" "0000351292" "00001358" "10" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Asn1169=)" "" "0000351293" "00001358" "10" "3546" "0" "3546" "0" "c.3546C>T" "r.(?)" "p.(Cys1182=)" "" "0000351294" "00001358" "10" "3783" "0" "3783" "0" "c.3783C>T" "r.(?)" "p.(Cys1261=)" "" "0000351295" "00001358" "10" "10711" "4" "10711" "4" "c.10711+4C>T" "r.spl?" "p.?" "" "0000407952" "00001358" "70" "9774" "0" "9774" "0" "c.9774C>G" "r.(?)" "p.(His3258Gln)" "" "0000548744" "00001358" "30" "762" "0" "762" "0" "c.762G>A" "r.(?)" "p.(Thr254=)" "" "0000548747" "00001358" "30" "3644" "0" "3644" "0" "c.3644G>A" "r.(?)" "p.(Gly1215Glu)" "" "0000548748" "00001358" "30" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Ser1479=)" "" "0000548750" "00001358" "50" "5758" "0" "5758" "0" "c.5758G>A" "r.(?)" "p.(Gly1920Arg)" "" "0000548752" "00001358" "30" "7415" "0" "7415" "0" "c.7415A>G" "r.(?)" "p.(Asn2472Ser)" "" "0000548753" "00001358" "30" "7523" "0" "7523" "0" "c.7523G>A" "r.(?)" "p.(Gly2508Asp)" "" "0000548755" "00001358" "30" "7838" "0" "7838" "0" "c.7838G>A" "r.(?)" "p.(Arg2613Gln)" "" "0000548756" "00001358" "10" "8997" "0" "8997" "0" "c.8997T>C" "r.(?)" "p.(Thr2999=)" "" "0000548757" "00001358" "30" "10971" "0" "10971" "0" "c.10971C>T" "r.(?)" "p.(Asp3657=)" "" "0000548758" "00001358" "50" "11026" "0" "11026" "0" "c.11026G>A" "r.(?)" "p.(Glu3676Lys)" "" "0000548759" "00001358" "30" "11174" "0" "11174" "0" "c.11174G>A" "r.(?)" "p.(Gly3725Glu)" "" "0000548761" "00001358" "50" "11859" "1" "11859" "1" "c.11859+1G>A" "r.spl?" "p.?" "" "0000548762" "00001358" "30" "12039" "0" "12039" "0" "c.12039G>C" "r.(?)" "p.(Gly4013=)" "" "0000548763" "00001358" "50" "12848" "0" "12848" "0" "c.12848C>T" "r.(?)" "p.(Thr4283Ile)" "" "0000548764" "00001358" "50" "12923" "0" "12923" "0" "c.12923G>T" "r.(?)" "p.(Cys4308Phe)" "" "0000614316" "00001358" "50" "4582" "0" "4582" "0" "c.4582T>G" "r.(?)" "p.(Tyr1528Asp)" "" "0000674790" "00001358" "90" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Lys1245Arg)" "23" "0000685581" "00001358" "11" "67" "4469" "67" "4469" "c.67+4469T>C" "r.(?)" "p.(=)" "1i" "0000712216" "00001358" "70" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Ala217Val)" "" "0000712217" "00001358" "70" "9628" "0" "9628" "0" "c.9628G>C" "r.(?)" "p.(Glu3210Gln)" "" "0000712570" "00001358" "70" "2910" "0" "2910" "0" "c.2910G>A" "r.spl?" "(p.Ser970=)" "" "0000712571" "00001358" "70" "11930" "0" "11930" "0" "c.11930C>T" "r.(?)" "p.(Ser3977Leu)" "" "0000805867" "00001358" "50" "6497" "0" "6497" "0" "c.6497G>A" "r.(?)" "p.(Cys2166Tyr)" "" "0000815087" "00001358" "90" "9410" "0" "9410" "0" "c.9410C>T" "r.(?)" "p.(Thr3137Met)" "59" "0000863079" "00001358" "70" "13329" "0" "13329" "0" "c.13329G>A" "r.(?)" "p.(Trp4443*)" "" "0000967010" "00001358" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "" "0000967012" "00001358" "50" "11075" "0" "11075" "0" "c.11075G>A" "r.(?)" "p.(Arg3692Gln)" "" "0000967013" "00001358" "50" "11432" "0" "11432" "0" "c.11432C>T" "r.(?)" "p.(Ser3811Leu)" "" "0000980396" "00001358" "50" "11516" "0" "11516" "0" "c.11516A>T" "r.(?)" "p.(Asn3839Ile)" "" "0001007519" "00001358" "70" "12137" "0" "12137" "0" "c.12137G>A" "r.(?)" "p.(Trp4046Ter)" "" "0001007539" "00001358" "70" "9894" "0" "9894" "0" "c.9894T>G" "r.(?)" "p.(Asn3298Lys)" "" "0001039382" "00001358" "50" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(His107Pro)" "" "0001039383" "00001358" "50" "3012" "0" "3012" "0" "c.3012C>A" "r.(?)" "p.(Asp1004Glu)" "" "0001039384" "00001358" "50" "7605" "0" "7605" "0" "c.7605C>T" "r.(?)" "p.(=)" "" "0001039385" "00001358" "50" "9341" "0" "9341" "0" "c.9341G>A" "r.(?)" "p.(Gly3114Asp)" "" "0001039386" "00001358" "50" "11495" "0" "11495" "0" "c.11495G>C" "r.(?)" "p.(Gly3832Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013100" "0000184014" "0000407952" "0000307954" "0000674790" "0000310875" "0000685581" "0000328268" "0000712216" "0000328268" "0000712217" "0000328613" "0000712570" "0000328613" "0000712571" "0000387208" "0000815087" "0000455354" "0001007539" "0000455412" "0001007519"