### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UMOD) # 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}}" "UMOD" "uromodulin" "16" "p12.3" "unknown" "NG_008151.1" "UD_132118505766" "" "https://www.LOVD.nl/UMOD" "" "1" "12559" "7369" "191845" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/UMOD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-05 12:55:04" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025252" "UMOD" "transcript variant 1" "004" "NM_003361.3" "" "NP_003352.2" "" "" "" "-292" "2186" "1923" "20364200" "20344373" "00006" "2017-12-05 12:53:26" "" "" "00025566" "UMOD" "transcript variant 3" "005" "NM_001278614.1" "" "NP_001265543.1" "" "" "" "-292" "2285" "2022" "20364200" "20344373" "00006" "2020-10-21 15:00:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01463" "HNFJ1" "nephropathy, hyperuricemic, juvenile, familial, type 1 (HNFJ-1)" "AD" "162000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02469" "MCKD2" "kidney disease, cystic, medullary, type 2 (MCKD-2)" "" "603860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02881" "-" "kidney disease, glomerulocystic, with hyperuricemia and isosthenuria" "" "609886" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-03-13 11:11:27" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "UMOD" "01463" "UMOD" "02469" "UMOD" "02881" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00132983" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "M" "" "" "" "0" "" "" "" "29100090-FamDC5" "00291400" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291401" "" "" "" "172" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291403" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304507" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00132983" "05342" "00291400" "00198" "00291401" "00198" "00291403" "00198" "00304507" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01463, 02469, 02881, 05342 ## Count = 1 "{{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}}" "0000105744" "05342" "00132983" "00006" "Familial" "" "CAKUT, renal hypoplasia bilateral, vesicoureteral reflux. hydronephrosis; hyperuricaemia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133817" "00132983" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000292568" "00291400" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292569" "00291401" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292571" "00291403" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305636" "00304507" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000133817" "UMOD" ## 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 = 60 "{{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}}" "0000223245" "0" "90" "16" "20359916" "20359916" "subst" "0" "00006" "UMOD_000001" "g.20359916G>C" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.20348594G>C" "" "pathogenic" "" "0000312941" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02325" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000315192" "0" "10" "16" "20352584" "20352584" "subst" "0.000715058" "02326" "UMOD_000002" "g.20352584G>A" "" "" "" "UMOD(NM_003361.3):c.1406C>T (p.T469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20341262G>A" "" "benign" "" "0000315193" "0" "10" "16" "20352618" "20352618" "subst" "0.0209074" "02326" "UMOD_000003" "g.20352618C>A" "" "" "" "UMOD(NM_001278614.2):c.1471G>T (p.V491L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20341296C>A" "" "benign" "" "0000315194" "0" "30" "16" "20360198" "20360198" "subst" "0.00644612" "02326" "UMOD_000005" "g.20360198C>T" "" "" "" "UMOD(NM_003361.3):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348876C>T" "" "likely benign" "" "0000315195" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02326" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000337455" "0" "10" "16" "20362106" "20362106" "subst" "0.0225153" "02327" "UMOD_000016" "g.20362106A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20350784A>G" "" "benign" "" "0000337456" "0" "10" "16" "20362115" "20362115" "subst" "0.0268419" "02327" "UMOD_000017" "g.20362115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20350793C>T" "" "benign" "" "0000339624" "0" "10" "16" "20359633" "20359633" "subst" "0.160554" "02327" "UMOD_000007" "g.20359633C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348311C>T" "" "benign" "" "0000339625" "0" "10" "16" "20359831" "20359831" "subst" "0.156753" "02327" "UMOD_000009" "g.20359831C>T" "" "" "" "UMOD(NM_003361.3):c.792G>A (p.V264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348509C>T" "" "benign" "" "0000339626" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02327" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000339627" "0" "10" "16" "20360359" "20360359" "subst" "0.0310977" "02327" "UMOD_000010" "g.20360359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349037G>A" "" "benign" "" "0000344345" "0" "50" "16" "20359763" "20359763" "subst" "0" "02327" "UMOD_000008" "g.20359763C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348441C>G" "" "VUS" "" "0000344347" "0" "70" "16" "20359620" "20359620" "subst" "0" "02327" "UMOD_000006" "g.20359620A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348298A>G" "" "likely pathogenic" "" "0000344417" "0" "90" "16" "20360468" "20360468" "subst" "0" "02327" "UMOD_000014" "g.20360468C>T" "" "" "" "UMOD(NM_003361.3):c.155G>A (p.C52Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349146C>T" "" "pathogenic" "" "0000345515" "0" "50" "16" "20360420" "20360420" "subst" "0" "02327" "UMOD_000012" "g.20360420T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349098T>C" "" "VUS" "" "0000348303" "0" "70" "16" "20359916" "20359916" "subst" "0" "02327" "UMOD_000001" "g.20359916G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348594G>C" "" "likely pathogenic" "" "0000348950" "0" "90" "16" "20360525" "20360525" "subst" "0" "02327" "UMOD_000015" "g.20360525G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349203G>C" "" "pathogenic" "" "0000557054" "0" "10" "16" "20344532" "20344532" "subst" "0" "02327" "GP2_000001" "g.20344532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20333210G>A" "" "benign" "" "0000557055" "0" "30" "16" "20352490" "20352490" "subst" "0.000487337" "01943" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20341168T>C" "" "likely benign" "" "0000557056" "0" "70" "16" "20357591" "20357591" "subst" "0" "02326" "UMOD_000019" "g.20357591A>G" "" "" "" "UMOD(NM_001008389.3):c.1039T>C (p.C347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20346269A>G" "" "likely pathogenic" "" "0000557057" "0" "70" "16" "20359815" "20359815" "subst" "0" "02327" "UMOD_000020" "g.20359815C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348493C>A" "" "likely pathogenic" "" "0000557058" "0" "10" "16" "20359831" "20359831" "subst" "0.156753" "02326" "UMOD_000009" "g.20359831C>T" "" "" "" "UMOD(NM_003361.3):c.792G>A (p.V264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348509C>T" "" "benign" "" "0000557059" "0" "50" "16" "20359931" "20359931" "subst" "0" "02327" "UMOD_000021" "g.20359931A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348609A>G" "" "VUS" "" "0000557060" "0" "70" "16" "20359937" "20359937" "subst" "0" "02327" "UMOD_000022" "g.20359937A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348615A>G" "" "likely pathogenic" "" "0000557061" "0" "50" "16" "20360451" "20360451" "subst" "1.62857E-5" "02327" "UMOD_000023" "g.20360451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349129C>T" "" "VUS" "" "0000557062" "0" "50" "16" "20360508" "20360508" "subst" "0" "01943" "UMOD_000024" "g.20360508C>T" "" "" "" "UMOD(NM_001278614.1):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349186C>T" "" "VUS" "" "0000615818" "0" "30" "16" "20359544" "20359544" "subst" "4.06547E-6" "02327" "UMOD_000026" "g.20359544C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348222C>T" "" "likely benign" "" "0000623393" "0" "30" "16" "20352526" "20352526" "subst" "0.000454856" "01943" "UMOD_000025" "g.20352526G>A" "" "" "" "UMOD(NM_001278614.1):c.1563C>T (p.G521=), UMOD(NM_003361.3):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20341204G>A" "" "likely benign" "" "0000649257" "1" "30" "16" "20352615" "20352615" "subst" "0.000300901" "03575" "UMOD_000027" "g.20352615G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs139607138}" "Germline" "" "rs139607138" "0" "" "" "g.20341293G>A" "" "likely benign" "" "0000649258" "1" "10" "16" "20352618" "20352618" "subst" "0.0209074" "03575" "UMOD_000003" "g.20352618C>A" "172/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "172 heterozygous; {DB:CLININrs55772253}" "Germline" "" "rs55772253" "0" "" "" "g.20341296C>A" "" "benign" "" "0000649260" "1" "10" "16" "20360085" "20360085" "subst" "0.00178475" "03575" "UMOD_000028" "g.20360085G>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs187555378}" "Germline" "" "rs187555378" "0" "" "" "g.20348763G>C" "" "benign" "" "0000657765" "0" "30" "16" "20361086" "20361086" "subst" "0.000350691" "01943" "UMOD_000029" "g.20361086T>C" "" "" "" "UMOD(NM_001278614.1):c.187+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349764T>C" "" "likely benign" "" "0000669324" "3" "10" "16" "20352618" "20352618" "subst" "0.0209074" "03575" "UMOD_000003" "g.20352618C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs55772253}" "Germline" "" "rs55772253" "0" "" "" "g.20341296C>A" "" "benign" "" "0000691964" "0" "90" "16" "20360240" "20360240" "subst" "0" "02326" "UMOD_000030" "g.20360240T>C" "" "" "" "UMOD(NM_001278614.2):c.482A>G (p.N161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725513" "0" "10" "16" "20352490" "20352490" "subst" "0.000487337" "02327" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725514" "0" "30" "16" "20357506" "20357506" "subst" "0.000739639" "01943" "UMOD_000031" "g.20357506C>T" "" "" "" "UMOD(NM_001278614.1):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765634" "0" "70" "16" "20359916" "20359916" "subst" "0" "03779" "UMOD_000032" "g.20359916G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1447458978" "0" "" "" "" "" "likely pathogenic" "" "0000807130" "0" "30" "16" "20352393" "20352393" "subst" "0.000619233" "02326" "UMOD_000033" "g.20352393T>A" "" "" "" "UMOD(NM_003361.3):c.1577+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807131" "0" "50" "16" "20360102" "20360102" "subst" "0" "02327" "UMOD_000034" "g.20360102C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854316" "0" "30" "16" "20357568" "20357568" "subst" "0.000905679" "02326" "UMOD_000035" "g.20357568G>A" "" "" "" "UMOD(NM_003361.3):c.1062C>T (p.F354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864357" "0" "50" "16" "20360447" "20360447" "subst" "0" "02326" "UMOD_000036" "g.20360447T>C" "" "" "" "UMOD(NM_003361.3):c.176A>G (p.D59G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892600" "0" "30" "16" "20352490" "20352490" "subst" "0.000487337" "02326" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892601" "0" "30" "16" "20352526" "20352526" "subst" "0.000454856" "02326" "UMOD_000025" "g.20352526G>A" "" "" "" "UMOD(NM_001278614.1):c.1563C>T (p.G521=), UMOD(NM_003361.3):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892602" "0" "30" "16" "20352615" "20352615" "subst" "0.000300901" "02326" "UMOD_000027" "g.20352615G>A" "" "" "" "UMOD(NM_003361.3):c.1375C>T (p.R459W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892603" "0" "10" "16" "20360085" "20360085" "subst" "0.00178475" "02326" "UMOD_000028" "g.20360085G>C" "" "" "" "UMOD(NM_003361.3):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892604" "0" "70" "16" "20360421" "20360421" "subst" "0" "02326" "UMOD_000037" "g.20360421C>T" "" "" "" "UMOD(NM_003361.3):c.202G>A (p.E68K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892605" "0" "90" "16" "20360468" "20360468" "subst" "0" "02326" "UMOD_000014" "g.20360468C>T" "" "" "" "UMOD(NM_003361.3):c.155G>A (p.C52Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926161" "0" "30" "16" "20344643" "20344643" "subst" "0.000711668" "02326" "GP2_000002" "g.20344643A>G" "" "" "" "UMOD(NM_003361.3):c.1916T>C (p.F639S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926162" "0" "30" "16" "20359630" "20359630" "subst" "4.06114E-6" "02326" "UMOD_000038" "g.20359630C>A" "" "" "" "UMOD(NM_003361.3):c.888G>T (p.T296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930523" "0" "30" "16" "20348036" "20348036" "subst" "0.000897659" "02326" "UMOD_000039" "g.20348036G>A" "" "" "" "UMOD(NM_003361.3):c.1754C>T (p.T585I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930524" "0" "30" "16" "20352614" "20352614" "subst" "0.000979762" "02326" "UMOD_000040" "g.20352614C>T" "" "" "" "UMOD(NM_003361.3):c.1376G>A (p.R459Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930525" "0" "30" "16" "20359538" "20359538" "subst" "0.000414978" "02326" "UMOD_000041" "g.20359538G>A" "" "" "" "UMOD(NM_003361.3):c.973+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950535" "0" "30" "16" "20348595" "20348595" "subst" "0.000881748" "02326" "UMOD_000042" "g.20348595G>A" "" "" "" "UMOD(NM_003361.3):c.1740+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950537" "0" "30" "16" "20352637" "20352637" "subst" "0.00088368" "02326" "UMOD_000043" "g.20352637G>C" "" "" "" "UMOD(NM_003361.3):c.1353C>G (p.G451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968155" "0" "70" "16" "20359619" "20359619" "subst" "0" "02326" "UMOD_000044" "g.20359619C>T" "" "" "" "UMOD(NM_003361.3):c.899G>A (p.C300Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981676" "0" "70" "16" "20359916" "20359916" "subst" "0" "02326" "UMOD_000032" "g.20359916G>A" "" "" "" "UMOD(NM_003361.3):c.707C>T (p.P236L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981679" "0" "30" "16" "20360290" "20360290" "subst" "0.000225566" "02326" "UMOD_000045" "g.20360290C>T" "" "" "" "UMOD(NM_003361.3):c.333G>A (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002009" "0" "70" "16" "20359959" "20359959" "subst" "0" "02326" "UMOD_000046" "g.20359959G>A" "" "" "" "UMOD(NM_003361.3):c.664C>T (p.R222C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002010" "0" "70" "16" "20360247" "20360247" "subst" "0" "02326" "UMOD_000047" "g.20360247A>G" "" "" "" "UMOD(NM_003361.3):c.376T>C (p.C126R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 UMOD ## Count = 119 "{{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}}" "0000223245" "00025252" "00" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Pro236Arg)" "" "0000223245" "00025566" "90" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Pro269Arg)" "" "0000312941" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000312941" "00025566" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Cys207=)" "" "0000315192" "00025252" "10" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Thr469Met)" "" "0000315192" "00025566" "10" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Thr502Met)" "" "0000315193" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000315193" "00025566" "10" "1471" "0" "1471" "0" "c.1471G>T" "r.(?)" "p.(Val491Leu)" "" "0000315194" "00025252" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000315194" "00025566" "30" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175Gln)" "" "0000315195" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000315195" "00025566" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Cys207=)" "" "0000337455" "00025252" "10" "-47" "0" "-47" "0" "c.-47T>C" "r.(?)" "p.(=)" "" "0000337455" "00025566" "10" "-47" "0" "-47" "0" "c.-47T>C" "r.(?)" "p.(=)" "" "0000337456" "00025252" "10" "-56" "0" "-56" "0" "c.-56G>A" "r.(?)" "p.(=)" "" "0000337456" "00025566" "10" "-56" "0" "-56" "0" "c.-56G>A" "r.(?)" "p.(=)" "" "0000339624" "00025252" "10" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Gly295=)" "" "0000339624" "00025566" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Gly328=)" "" "0000339625" "00025252" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Val264=)" "" "0000339625" "00025566" "10" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Val297=)" "" "0000339626" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000339626" "00025566" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Cys207=)" "" "0000339627" "00025252" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Gly88=)" "" "0000339627" "00025566" "10" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Gly121=)" "" "0000344345" "00025252" "50" "860" "0" "860" "0" "c.860G>C" "r.(?)" "p.(Cys287Ser)" "" "0000344345" "00025566" "50" "959" "0" "959" "0" "c.959G>C" "r.(?)" "p.(Cys320Ser)" "" "0000344347" "00025252" "70" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Cys300Arg)" "" "0000344347" "00025566" "70" "997" "0" "997" "0" "c.997T>C" "r.(?)" "p.(Cys333Arg)" "" "0000344417" "00025252" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Cys52Tyr)" "" "0000344417" "00025566" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Cys85Tyr)" "" "0000345515" "00025252" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Glu68Gly)" "" "0000345515" "00025566" "50" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Glu101Gly)" "" "0000348303" "00025252" "70" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Pro236Arg)" "" "0000348303" "00025566" "70" "806" "0" "806" "0" "c.806C>G" "r.(?)" "p.(Pro269Arg)" "" "0000348950" "00025252" "90" "98" "0" "98" "0" "c.98C>G" "r.(?)" "p.(Ser33Cys)" "" "0000348950" "00025566" "90" "197" "0" "197" "0" "c.197C>G" "r.(?)" "p.(Ser66Cys)" "" "0000557054" "00025252" "10" "2027" "0" "2027" "0" "c.*104C>T" "r.(=)" "p.(=)" "" "0000557054" "00025566" "10" "2126" "0" "2126" "0" "c.*104C>T" "r.(=)" "p.(=)" "" "0000557055" "00025252" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000557055" "00025566" "30" "1599" "0" "1599" "0" "c.1599A>G" "r.(?)" "p.(Ala533=)" "" "0000557056" "00025252" "70" "1039" "0" "1039" "0" "c.1039T>C" "r.(?)" "p.(Cys347Arg)" "" "0000557056" "00025566" "70" "1138" "0" "1138" "0" "c.1138T>C" "r.(?)" "p.(Cys380Arg)" "" "0000557057" "00025252" "70" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "" "0000557057" "00025566" "70" "907" "0" "907" "0" "c.907G>T" "r.(?)" "p.(Gly303Cys)" "" "0000557058" "00025252" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Val264=)" "" "0000557058" "00025566" "10" "891" "0" "891" "0" "c.891G>A" "r.(?)" "p.(Val297=)" "" "0000557059" "00025252" "50" "692" "0" "692" "0" "c.692T>C" "r.(?)" "p.(Leu231Pro)" "" "0000557059" "00025566" "50" "791" "0" "791" "0" "c.791T>C" "r.(?)" "p.(Leu264Pro)" "" "0000557060" "00025252" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Met229Thr)" "" "0000557060" "00025566" "70" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Met262Thr)" "" "0000557061" "00025252" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Ser)" "" "0000557061" "00025566" "50" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Gly91Ser)" "" "0000557062" "00025252" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000557062" "00025566" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000615818" "00025252" "30" "973" "1" "973" "1" "c.973+1G>A" "r.spl?" "p.?" "" "0000615818" "00025566" "30" "1072" "1" "1072" "1" "c.1072+1G>A" "r.spl?" "p.?" "" "0000623393" "00025252" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000623393" "00025566" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Gly521=)" "" "0000649257" "00025252" "30" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000649257" "00025566" "30" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000649258" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000649258" "00025566" "10" "1471" "0" "1471" "0" "c.1471G>T" "r.(?)" "p.(Val491Leu)" "" "0000649260" "00025252" "10" "538" "0" "538" "0" "c.538C>G" "r.(?)" "p.(Leu180Val)" "" "0000649260" "00025566" "10" "637" "0" "637" "0" "c.637C>G" "r.(?)" "p.(Leu213Val)" "" "0000657765" "00025252" "30" "89" "-552" "89" "-552" "c.89-552A>G" "r.(=)" "p.(=)" "" "0000657765" "00025566" "30" "187" "7" "187" "7" "c.187+7A>G" "r.(=)" "p.(=)" "" "0000669324" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000669324" "00025566" "10" "1471" "0" "1471" "0" "c.1471G>T" "r.(?)" "p.(Val491Leu)" "" "0000691964" "00025252" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asn128Ser)" "" "0000691964" "00025566" "90" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Asn161Ser)" "" "0000725513" "00025252" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000725513" "00025566" "10" "1599" "0" "1599" "0" "c.1599A>G" "r.(?)" "p.(Ala533=)" "" "0000725514" "00025252" "30" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375Gln)" "" "0000725514" "00025566" "30" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000765634" "00025252" "70" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0000807130" "00025252" "30" "1577" "20" "1577" "20" "c.1577+20A>T" "r.(=)" "p.(=)" "" "0000807130" "00025566" "30" "1676" "20" "1676" "20" "c.1676+20A>T" "r.(=)" "p.(=)" "" "0000807131" "00025252" "50" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Cys174Tyr)" "" "0000807131" "00025566" "50" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Cys207Tyr)" "" "0000854316" "00025252" "30" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Phe354=)" "" "0000854316" "00025566" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Phe387=)" "" "0000864357" "00025252" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asp59Gly)" "" "0000864357" "00025566" "50" "275" "0" "275" "0" "c.275A>G" "r.(?)" "p.(Asp92Gly)" "" "0000892600" "00025252" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000892600" "00025566" "30" "1599" "0" "1599" "0" "c.1599A>G" "r.(?)" "p.(Ala533=)" "" "0000892601" "00025252" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000892601" "00025566" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Gly521=)" "" "0000892602" "00025252" "30" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000892602" "00025566" "30" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Trp)" "" "0000892603" "00025252" "10" "538" "0" "538" "0" "c.538C>G" "r.(?)" "p.(Leu180Val)" "" "0000892603" "00025566" "10" "637" "0" "637" "0" "c.637C>G" "r.(?)" "p.(Leu213Val)" "" "0000892604" "00025252" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Glu68Lys)" "" "0000892604" "00025566" "70" "301" "0" "301" "0" "c.301G>A" "r.(?)" "p.(Glu101Lys)" "" "0000892605" "00025252" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Cys52Tyr)" "" "0000892605" "00025566" "90" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Cys85Tyr)" "" "0000926161" "00025252" "30" "1916" "0" "1916" "0" "c.1916T>C" "r.(?)" "p.(Phe639Ser)" "" "0000926161" "00025566" "30" "2015" "0" "2015" "0" "c.2015T>C" "r.(?)" "p.(Phe672Ser)" "" "0000926162" "00025252" "30" "888" "0" "888" "0" "c.888G>T" "r.(?)" "p.(Thr296=)" "" "0000926162" "00025566" "30" "987" "0" "987" "0" "c.987G>T" "r.(?)" "p.(Thr329=)" "" "0000930523" "00025252" "30" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Ile)" "" "0000930523" "00025566" "30" "1853" "0" "1853" "0" "c.1853C>T" "r.(?)" "p.(Thr618Ile)" "" "0000930524" "00025252" "30" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "0000930524" "00025566" "30" "1475" "0" "1475" "0" "c.1475G>A" "r.(?)" "p.(Arg492Gln)" "" "0000930525" "00025252" "30" "973" "7" "973" "7" "c.973+7C>T" "r.(=)" "p.(=)" "" "0000930525" "00025566" "30" "1072" "7" "1072" "7" "c.1072+7C>T" "r.(=)" "p.(=)" "" "0000950535" "00025252" "30" "1740" "18" "1740" "18" "c.1740+18C>T" "r.(=)" "p.(=)" "" "0000950535" "00025566" "30" "1839" "18" "1839" "18" "c.1839+18C>T" "r.(=)" "p.(=)" "" "0000950537" "00025252" "30" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(=)" "" "0000950537" "00025566" "30" "1452" "0" "1452" "0" "c.1452C>G" "r.(?)" "p.(=)" "" "0000968155" "00025252" "70" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" "0000968155" "00025566" "70" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000981676" "00025252" "70" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0000981676" "00025566" "70" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Pro269Leu)" "" "0000981679" "00025252" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(=)" "" "0000981679" "00025566" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(=)" "" "0001002009" "00025252" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Cys)" "" "0001002009" "00025566" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "" "0001002010" "00025252" "70" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "" "0001002010" "00025566" "70" "475" "0" "475" "0" "c.475T>C" "r.(?)" "p.(Cys159Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000133817" "0000223245" "0000292568" "0000649257" "0000292569" "0000649258" "0000292571" "0000649260" "0000305636" "0000669324"