### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LOX) # 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}}" "LOX" "lysyl oxidase" "5" "q23.3-q31.2" "unknown" "NG_008722.1" "UD_132118360729" "" "https://www.LOVD.nl/LOX" "" "1" "6664" "4015" "153455" "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/LOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-21 08:49:58" "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}}" "00025653" "LOX" "transcript variant 1" "002" "NM_002317.5" "" "NP_002308.2" "" "" "" "-375" "4802" "1254" "121414055" "121398890" "03840" "2021-11-03 12:58:09" "" "" ## 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}}" "01029" "KTCN" "keratoconus (KTCN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 12:41:56" "05118" "-" "aneurysms, arterial" "" "" "" "" "" "00006" "2016-01-13 01:22:29" "" "" "06663" "AAT10" "aneurysm, aortic, thoracic, familial, type 10 (AAT10)" "AD" "617168" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "LOX" "06663" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00388268" "" "" "" "1" "" "00000" "{PMID:Xu 2020:32246022}" "no patient numbering" "M" "" "China" "" "0" "" "" "Chinese Han" "1" "00417572" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00388268" "01029" "00417572" "05118" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01029, 05118, 06663 ## Count = 1 "{{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}}" "0000281823" "01029" "00388268" "00000" "Familial, autosomal dominant" "28y" "diopter right/left eye: -6.5/-5.25, corneal thickness right/left eye: 467/489" "" "21y" "" "" "" "" "" "keratoconus" "keratoconus" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000389508" "00388268" "1" "00000" "03840" "2021-11-03 14:14:26" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes" "0000418867" "00417572" "1" "01741" "01741" "2022-09-20 11:51:28" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000389508" "LOX" "0000418867" "LOX" ## 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 = 67 "{{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}}" "0000255225" "0" "30" "5" "121409868" "121409868" "subst" "8.1416E-6" "01943" "LOX_000001" "g.121409868A>G" "" "" "" "LOX(NM_002317.6):c.879-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122074173A>G" "" "likely benign" "" "0000291046" "0" "30" "5" "121413383" "121413383" "subst" "9.50787E-6" "01943" "LOX_000004" "g.121413383C>A" "" "" "" "LOX(NM_002317.6):c.298G>T (p.A100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122077688C>A" "" "likely benign" "" "0000291047" "0" "30" "5" "121413373" "121413373" "subst" "0.000201634" "01943" "LOX_000003" "g.121413373C>G" "" "" "" "LOX(NM_002317.6):c.308G>C (p.R103P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122077678C>G" "" "likely benign" "" "0000291048" "0" "30" "5" "121412685" "121412685" "subst" "1.22193E-5" "01943" "LOX_000002" "g.121412685G>A" "" "" "" "LOX(NM_002317.6):c.643C>T (p.L215=), LOX(NM_002317.7):c.643C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122076990G>A" "" "likely benign" "" "0000523905" "0" "50" "5" "121411147" "121411147" "subst" "0" "02326" "LOX_000005" "g.121411147A>G" "" "" "" "LOX(NM_002317.7):c.830T>C (p.F277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122075452A>G" "" "VUS" "" "0000523906" "0" "30" "5" "121411170" "121411170" "subst" "6.90636E-5" "02326" "LOX_000006" "g.121411170C>T" "" "" "" "LOX(NM_002317.7):c.807G>A (p.V269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122075475C>T" "" "likely benign" "" "0000523907" "0" "10" "5" "121412582" "121412582" "subst" "0.00122827" "01943" "LOX_000007" "g.121412582C>T" "" "" "" "LOX(NM_002317.5):c.740+6G>A (p.?), LOX(NM_002317.6):c.740+6G>A, LOX(NM_002317.7):c.740+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122076887C>T" "" "benign" "" "0000523908" "0" "30" "5" "121413040" "121413040" "subst" "0.000570037" "01943" "LOX_000008" "g.121413040G>A" "" "" "" "LOX(NM_002317.6):c.631+10C>T, LOX(NM_002317.7):c.631+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077345G>A" "" "likely benign" "" "0000523910" "0" "10" "5" "121413208" "121413208" "subst" "0.171704" "02329" "LOX_000010" "g.121413208C>T" "" "" "" "LOX(NM_002317.7):c.473G>A (p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077513C>T" "" "benign" "" "0000523911" "0" "30" "5" "121413462" "121413462" "subst" "9.89455E-5" "01943" "LOX_000011" "g.121413462G>T" "" "" "" "LOX(NM_002317.6):c.219C>A (p.G73=), LOX(NM_002317.7):c.219C>A (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077767G>T" "" "likely benign" "" "0000523912" "0" "50" "5" "121413500" "121413500" "subst" "0" "01943" "LOX_000012" "g.121413500C>G" "" "" "" "LOX(NM_002317.6):c.181G>C (p.G61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077805C>G" "" "VUS" "" "0000609410" "0" "30" "5" "121413465" "121413465" "subst" "0" "02327" "LOX_000013" "g.121413465C>G" "" "" "" "LOX(NM_002317.7):c.216G>C (p.P72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077770C>G" "" "likely benign" "" "0000655245" "0" "30" "5" "121413215" "121413215" "subst" "2.04325E-5" "01943" "LOX_000014" "g.121413215T>A" "" "" "" "LOX(NM_002317.6):c.466A>T (p.N156Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077520T>A" "" "likely benign" "" "0000655246" "0" "30" "5" "121413463" "121413463" "subst" "6.42242E-5" "01943" "LOX_000015" "g.121413463C>T" "" "" "" "LOX(NM_002317.6):c.218G>A (p.G73D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122077768C>T" "" "likely benign" "" "0000720092" "0" "90" "5" "121409741" "121409751" "del" "0" "02325" "LOX_000016" "g.121409741_121409751del" "" "" "" "LOX(NM_002317.7):c.992_1002delACTATGGCTAC (p.D331Afs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801815" "0" "30" "5" "121402450" "121402450" "subst" "0" "01943" "LOX_000017" "g.121402450T>A" "" "" "" "LOX(NM_002317.6):c.1248-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801816" "0" "70" "5" "121406262" "121406262" "subst" "0" "02329" "LOX_000018" "g.121406262T>G" "" "" "" "LOX(NM_002317.7):c.1058A>C (p.D353A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801817" "0" "30" "5" "121412685" "121412685" "subst" "1.22193E-5" "02326" "LOX_000002" "g.121412685G>A" "" "" "" "LOX(NM_002317.6):c.643C>T (p.L215=), LOX(NM_002317.7):c.643C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818601" "0" "50" "5" "121413586" "121413586" "subst" "0.000148837" "00000" "LOX_000019" "g.121413586G>A" "" "{PMID:Xu 2020:32246022}" "" "c.95G>A, P32L" "error in annotation: P32L is caused by c.95C>T and not G>A; gene might be involved in keratoconus pathogenesis" "Germline/De novo (untested)" "?" "" "0" "" "" "g.122077891G>A" "" "VUS" "" "0000850734" "0" "10" "5" "121412582" "121412582" "subst" "0.00122827" "02329" "LOX_000007" "g.121412582C>T" "" "" "" "LOX(NM_002317.5):c.740+6G>A (p.?), LOX(NM_002317.6):c.740+6G>A, LOX(NM_002317.7):c.740+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850735" "0" "30" "5" "121413364" "121413364" "subst" "0" "02326" "LOX_000023" "g.121413364G>A" "" "" "" "LOX(NM_002317.7):c.317C>T (p.T106M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859705" "0" "50" "5" "121411172" "121411172" "subst" "0" "01943" "LOX_000020" "g.121411172C>T" "" "" "" "LOX(NM_002317.6):c.805G>A (p.V269M), LOX(NM_002317.7):c.805G>A (p.V269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859706" "0" "30" "5" "121413205" "121413205" "subst" "0.00559006" "01804" "LOX_000021" "g.121413205G>T" "" "" "" "LOX(NM_001178102.1):c.-568C>A (p.(=)), LOX(NM_002317.7):c.476C>A (p.P159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859707" "0" "30" "5" "121413218" "121413218" "subst" "2.04357E-5" "01804" "LOX_000022" "g.121413218T>C" "" "" "" "LOX(NM_001178102.1):c.-581A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886540" "0" "50" "5" "121405845" "121405845" "subst" "0" "02329" "LOX_000024" "g.121405845A>G" "" "" "" "LOX(NM_002317.7):c.1150T>C (p.Y384H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886543" "0" "30" "5" "121412685" "121412685" "subst" "1.22193E-5" "02329" "LOX_000002" "g.121412685G>A" "" "" "" "LOX(NM_002317.6):c.643C>T (p.L215=), LOX(NM_002317.7):c.643C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886544" "0" "50" "5" "121413253" "121413253" "subst" "0" "02326" "LOX_000025" "g.121413253T>C" "" "" "" "LOX(NM_002317.7):c.428A>G (p.E143G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000900517" "0" "50" "5" "121412669" "121412669" "subst" "0" "01741" "LOX_000026" "g.121412669T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000912188" "0" "50" "5" "121405805" "121405805" "subst" "3.2524E-5" "02326" "LOX_000027" "g.121405805C>T" "" "" "" "LOX(NM_002317.5):c.1190G>A (p.(Arg397His)), LOX(NM_002317.7):c.1190G>A (p.R397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912189" "0" "50" "5" "121411172" "121411172" "subst" "0" "02326" "LOX_000020" "g.121411172C>T" "" "" "" "LOX(NM_002317.6):c.805G>A (p.V269M), LOX(NM_002317.7):c.805G>A (p.V269M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912190" "0" "10" "5" "121413205" "121413205" "subst" "0.00559006" "02329" "LOX_000021" "g.121413205G>T" "" "" "" "LOX(NM_001178102.1):c.-568C>A (p.(=)), LOX(NM_002317.7):c.476C>A (p.P159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912191" "0" "50" "5" "121413650" "121413650" "subst" "1.56885E-5" "02329" "LOX_000028" "g.121413650C>G" "" "" "" "LOX(NM_002317.7):c.31G>C (p.G11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917065" "0" "70" "5" "121412651" "121412651" "dup" "0" "03779" "LOX_000029" "g.121412651dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000924205" "0" "50" "5" "121405744" "121405747" "del" "0" "02326" "LOX_000030" "g.121405744_121405747del" "" "" "" "LOX(NM_002317.7):c.1247+3_1247+6delAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924206" "0" "50" "5" "121405805" "121405805" "subst" "3.2524E-5" "02325" "LOX_000027" "g.121405805C>T" "" "" "" "LOX(NM_002317.5):c.1190G>A (p.(Arg397His)), LOX(NM_002317.7):c.1190G>A (p.R397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924207" "0" "50" "5" "121405845" "121405845" "subst" "0" "02326" "LOX_000024" "g.121405845A>G" "" "" "" "LOX(NM_002317.7):c.1150T>C (p.Y384H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924208" "0" "30" "5" "121409893" "121409893" "subst" "0.000212219" "02329" "LOX_000031" "g.121409893G>A" "" "" "" "LOX(NM_002317.7):c.879-29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928991" "0" "30" "5" "121406273" "121406273" "subst" "1.64025E-5" "02329" "LOX_000032" "g.121406273A>G" "" "" "" "LOX(NM_002317.7):c.1047T>C (p.P349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928992" "0" "70" "5" "121413051" "121413051" "subst" "0" "02326" "LOX_000033" "g.121413051G>T" "" "" "" "LOX(NM_002317.7):c.630C>A (p.Y210*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948434" "0" "50" "5" "121411135" "121411135" "subst" "0" "02329" "LOX_000034" "g.121411135C>T" "" "" "" "LOX(NM_002317.7):c.842G>A (p.R281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963377" "0" "50" "5" "121406218" "121406218" "subst" "8.1483E-6" "02329" "LOX_000035" "g.121406218C>T" "" "" "" "LOX(NM_002317.7):c.1102G>A (p.D368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963378" "0" "30" "5" "121409827" "121409827" "subst" "9.74667E-5" "02329" "LOX_000036" "g.121409827G>A" "" "" "" "LOX(NM_002317.7):c.916C>T (p.L306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963379" "0" "70" "5" "121411135" "121411135" "subst" "0" "02326" "LOX_000034" "g.121411135C>T" "" "" "" "LOX(NM_002317.7):c.842G>A (p.R281Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963380" "0" "30" "5" "121412316" "121412316" "subst" "0" "02329" "LOX_000037" "g.121412316T>C" "" "" "" "LOX(NM_002317.7):c.740+272A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963381" "0" "30" "5" "121412656" "121412656" "subst" "0" "02329" "LOX_000038" "g.121412656C>T" "" "" "" "LOX(NM_002317.7):c.672G>A (p.A224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963382" "0" "10" "5" "121413040" "121413040" "subst" "0.000570037" "02329" "LOX_000008" "g.121413040G>A" "" "" "" "LOX(NM_002317.6):c.631+10C>T, LOX(NM_002317.7):c.631+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976480" "0" "30" "5" "121406346" "121406346" "subst" "0" "02329" "LOX_000039" "g.121406346A>C" "" "" "" "LOX(NM_002317.7):c.1036-62T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994567" "0" "50" "5" "121405769" "121405769" "subst" "0" "02329" "LOX_000040" "g.121405769G>T" "" "" "" "LOX(NM_002317.7):c.1226C>A (p.A409D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994568" "0" "50" "5" "121405805" "121405805" "subst" "3.2524E-5" "01804" "LOX_000027" "g.121405805C>T" "" "" "" "LOX(NM_002317.5):c.1190G>A (p.(Arg397His)), LOX(NM_002317.7):c.1190G>A (p.R397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994569" "0" "30" "5" "121406070" "121406070" "subst" "0" "02329" "LOX_000041" "g.121406070T>C" "" "" "" "LOX(NM_002317.7):c.1131+119A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994570" "0" "30" "5" "121412582" "121412582" "subst" "0.00122827" "01804" "LOX_000007" "g.121412582C>T" "" "" "" "LOX(NM_002317.5):c.740+6G>A (p.?), LOX(NM_002317.6):c.740+6G>A, LOX(NM_002317.7):c.740+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994571" "0" "50" "5" "121413317" "121413317" "subst" "4.28005E-6" "01804" "LOX_000042" "g.121413317G>A" "" "" "" "LOX(NM_002317.5):c.364C>T (p.(Arg122Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994572" "0" "50" "5" "121413386" "121413386" "subst" "3.3395E-5" "01804" "LOX_000043" "g.121413386T>C" "" "" "" "LOX(NM_002317.5):c.295A>G (p.(Thr99Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994573" "0" "30" "5" "121413456" "121413456" "subst" "2.10122E-5" "02329" "LOX_000044" "g.121413456G>T" "" "" "" "LOX(NM_002317.7):c.225C>A (p.A75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014044" "0" "30" "5" "121406255" "121406255" "subst" "0" "02329" "LOX_000045" "g.121406255A>G" "" "" "" "LOX(NM_002317.7):c.1065T>C (p.Y355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014045" "0" "10" "5" "121413286" "121413286" "subst" "0.00107806" "02329" "LOX_000046" "g.121413286G>A" "" "" "" "LOX(NM_002317.7):c.395C>T (p.S132F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014046" "0" "30" "5" "121413462" "121413462" "subst" "9.89455E-5" "02329" "LOX_000011" "g.121413462G>T" "" "" "" "LOX(NM_002317.6):c.219C>A (p.G73=), LOX(NM_002317.7):c.219C>A (p.G73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024993" "0" "50" "5" "121405747" "121405747" "subst" "4.06769E-6" "02329" "LOX_000047" "g.121405747C>T" "" "" "" "LOX(NM_002317.7):c.1247+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024994" "0" "50" "5" "121406412" "121406412" "subst" "0" "02329" "LOX_000048" "g.121406412T>C" "" "" "" "LOX(NM_002317.7):c.1036-128A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024995" "0" "10" "5" "121409825" "121409825" "subst" "0.000560429" "02329" "LOX_000049" "g.121409825C>T" "" "" "" "LOX(NM_002317.7):c.918G>A (p.L306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024996" "0" "50" "5" "121413406" "121413406" "subst" "0" "02329" "LOX_000050" "g.121413406A>G" "" "" "" "LOX(NM_002317.7):c.275T>C (p.L92P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024997" "0" "30" "5" "121413465" "121413465" "subst" "0" "02329" "LOX_000013" "g.121413465C>G" "" "" "" "LOX(NM_002317.7):c.216G>C (p.P72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024998" "0" "30" "5" "121413465" "121413465" "subst" "0.000151264" "02329" "LOX_000051" "g.121413465C>T" "" "" "" "LOX(NM_002317.7):c.216G>A (p.P72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034815" "0" "30" "5" "121412828" "121412828" "subst" "0" "02329" "LOX_000052" "g.121412828A>G" "" "" "" "LOX(NM_002317.7):c.632-132T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034816" "0" "70" "5" "121413489" "121413489" "subst" "0" "01804" "LOX_000053" "g.121413489G>T" "" "" "" "LOX(NM_002317.7):c.192C>A (p.(Tyr64*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046005" "0" "50" "5" "121406218" "121406218" "subst" "8.1483E-6" "02325" "LOX_000035" "g.121406218C>T" "" "" "" "LOX(NM_002317.7):c.1102G>A (p.D368N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052059" "0" "50" "5" "121413581" "121413581" "subst" "3.92489E-5" "01804" "LOX_000054" "g.121413581C>G" "" "" "" "LOX(NM_002317.7):c.100G>C (p.(Glu34Gln))" "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 LOX ## Count = 67 "{{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}}" "0000255225" "00025653" "30" "879" "-4" "879" "-4" "c.879-4T>C" "r.spl?" "p.?" "" "0000291046" "00025653" "30" "298" "0" "298" "0" "c.298G>T" "r.(?)" "p.(Ala100Ser)" "" "0000291047" "00025653" "30" "308" "0" "308" "0" "c.308G>C" "r.(?)" "p.(Arg103Pro)" "" "0000291048" "00025653" "30" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215=)" "" "0000523905" "00025653" "50" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Phe277Ser)" "" "0000523906" "00025653" "30" "807" "0" "807" "0" "c.807G>A" "r.(?)" "p.(Val269=)" "" "0000523907" "00025653" "10" "740" "6" "740" "6" "c.740+6G>A" "r.(=)" "p.(=)" "" "0000523908" "00025653" "30" "631" "10" "631" "10" "c.631+10C>T" "r.(=)" "p.(=)" "" "0000523910" "00025653" "10" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000523911" "00025653" "30" "219" "0" "219" "0" "c.219C>A" "r.(?)" "p.(Gly73=)" "" "0000523912" "00025653" "50" "181" "0" "181" "0" "c.181G>C" "r.(?)" "p.(Gly61Arg)" "" "0000609410" "00025653" "30" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Pro72=)" "" "0000655245" "00025653" "30" "466" "0" "466" "0" "c.466A>T" "r.(?)" "p.(Asn156Tyr)" "" "0000655246" "00025653" "30" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Gly73Asp)" "" "0000720092" "00025653" "90" "992" "0" "1002" "0" "c.992_1002del" "r.(?)" "p.(Asp331Alafs*19)" "" "0000801815" "00025653" "30" "1248" "-6" "1248" "-6" "c.1248-6A>T" "r.(=)" "p.(=)" "" "0000801816" "00025653" "70" "1058" "0" "1058" "0" "c.1058A>C" "r.(?)" "p.(Asp353Ala)" "" "0000801817" "00025653" "30" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215=)" "" "0000818601" "00025653" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "" "0000850734" "00025653" "10" "740" "6" "740" "6" "c.740+6G>A" "r.(=)" "p.(=)" "" "0000850735" "00025653" "30" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Met)" "" "0000859705" "00025653" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "" "0000859706" "00025653" "30" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Pro159Gln)" "" "0000859707" "00025653" "30" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ser155Gly)" "" "0000886540" "00025653" "50" "1150" "0" "1150" "0" "c.1150T>C" "r.(?)" "p.(Tyr384His)" "" "0000886543" "00025653" "30" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215=)" "" "0000886544" "00025653" "50" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Glu143Gly)" "" "0000900517" "00025653" "50" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Tyr220Cys)" "" "0000912188" "00025653" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000912189" "00025653" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Val269Met)" "" "0000912190" "00025653" "10" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Pro159Gln)" "" "0000912191" "00025653" "50" "31" "0" "31" "0" "c.31G>C" "r.(?)" "p.(Gly11Arg)" "" "0000917065" "00025653" "70" "677" "0" "677" "0" "c.677dup" "r.(?)" "p.(Tyr227ValfsTer32)" "" "0000924205" "00025653" "50" "1247" "3" "1247" "6" "c.1247+3_1247+6del" "r.spl?" "p.?" "" "0000924206" "00025653" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000924207" "00025653" "50" "1150" "0" "1150" "0" "c.1150T>C" "r.(?)" "p.(Tyr384His)" "" "0000924208" "00025653" "30" "879" "-29" "879" "-29" "c.879-29C>T" "r.(=)" "p.(=)" "" "0000928991" "00025653" "30" "1047" "0" "1047" "0" "c.1047T>C" "r.(?)" "p.(=)" "" "0000928992" "00025653" "70" "630" "0" "630" "0" "c.630C>A" "r.(?)" "p.(Tyr210*)" "" "0000948434" "00025653" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281Gln)" "" "0000963377" "00025653" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" "" "0000963378" "00025653" "30" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(=)" "" "0000963379" "00025653" "70" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Arg281Gln)" "" "0000963380" "00025653" "30" "740" "272" "740" "272" "c.740+272A>G" "r.(=)" "p.(=)" "" "0000963381" "00025653" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(=)" "" "0000963382" "00025653" "10" "631" "10" "631" "10" "c.631+10C>T" "r.(=)" "p.(=)" "" "0000976480" "00025653" "30" "1036" "-62" "1036" "-62" "c.1036-62T>G" "r.(=)" "p.(=)" "" "0000994567" "00025653" "50" "1226" "0" "1226" "0" "c.1226C>A" "r.(?)" "p.(Ala409Asp)" "" "0000994568" "00025653" "50" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Arg397His)" "" "0000994569" "00025653" "30" "1131" "119" "1131" "119" "c.1131+119A>G" "r.(=)" "p.(=)" "" "0000994570" "00025653" "30" "740" "6" "740" "6" "c.740+6G>A" "r.(=)" "p.(=)" "" "0000994571" "00025653" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000994572" "00025653" "50" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Thr99Ala)" "" "0000994573" "00025653" "30" "225" "0" "225" "0" "c.225C>A" "r.(?)" "p.(=)" "" "0001014044" "00025653" "30" "1065" "0" "1065" "0" "c.1065T>C" "r.(?)" "p.(=)" "" "0001014045" "00025653" "10" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ser132Phe)" "" "0001014046" "00025653" "30" "219" "0" "219" "0" "c.219C>A" "r.(?)" "p.(Gly73=)" "" "0001024993" "00025653" "50" "1247" "1" "1247" "1" "c.1247+1G>A" "r.spl?" "p.?" "" "0001024994" "00025653" "50" "1036" "-128" "1036" "-128" "c.1036-128A>G" "r.(=)" "p.(=)" "" "0001024995" "00025653" "10" "918" "0" "918" "0" "c.918G>A" "r.(?)" "p.(=)" "" "0001024996" "00025653" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "" "0001024997" "00025653" "30" "216" "0" "216" "0" "c.216G>C" "r.(?)" "p.(Pro72=)" "" "0001024998" "00025653" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(=)" "" "0001034815" "00025653" "30" "632" "-132" "632" "-132" "c.632-132T>C" "r.(=)" "p.(=)" "" "0001034816" "00025653" "70" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Tyr64*)" "" "0001046005" "00025653" "50" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" "" "0001052059" "00025653" "50" "100" "0" "100" "0" "c.100G>C" "r.(?)" "p.(Glu34Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000389508" "0000818601" "0000418867" "0000900517"