### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEC23B) # 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}}" "SEC23B" "Sec23 homolog B (S. cerevisiae)" "20" "p11.23" "unknown" "NG_016281.1" "UD_132118398950" "" "http://www.LOVD.nl/SEC23B" "Congenital Disorder of Glycosylation pages " "1" "10702" "10483" "610512" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SEC23B_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2015-03-20 19:46:59" "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}}" "00024028" "SEC23B" "transcript variant 2" "001" "NM_032985.4" "" "NP_116780.1" "" "" "" "-461" "2970" "2304" "18488188" "18542050" "00006" "2015-03-20 19:45:17" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01759" "CDAN2" "anemia, dyserythropoietic, congenital, type II (CDAN-2)" "AR" "224100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06504" "CWS7" "?Cowden syndrome 7" "AD" "616858" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SEC23B" "01759" "SEC23B" "06504" ## 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}}" "00292876" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292877" "" "" "" "139" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292878" "" "" "" "73" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292879" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292880" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304844" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304845" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304846" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308766" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00292876" "00198" "00292877" "00198" "00292878" "00198" "00292879" "00198" "00292880" "00198" "00304844" "00198" "00304845" "00198" "00304846" "00198" "00308766" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01759, 06504 ## Count = 0 ## 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}}" "0000294044" "00292876" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294045" "00292877" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294046" "00292878" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294047" "00292879" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294048" "00292880" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305973" "00304844" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305974" "00304845" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305975" "00304846" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309911" "00308766" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000309911" "SEC23B" ## 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 = 61 "{{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}}" "0000249256" "0" "10" "20" "18511456" "18511456" "subst" "0" "02325" "SEC23B_000001" "g.18511456A>G" "" "" "" "SEC23B(NM_032985.6):c.1233+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18530812A>G" "" "benign" "" "0000298088" "0" "10" "20" "18529233" "18529233" "subst" "0.376679" "02325" "SEC23B_000002" "g.18529233T>A" "" "" "" "SEC23B(NM_032985.6):c.1744-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18548589T>A" "" "benign" "" "0000342261" "0" "90" "20" "18505624" "18505624" "subst" "5.28189E-5" "02327" "SEC23B_000003" "g.18505624C>T" "" "" "" "SEC23B(NM_006363.4):c.649C>T (p.(Arg217*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18524980C>T" "" "pathogenic" "" "0000350109" "0" "70" "20" "18516367" "18516367" "subst" "2.84294E-5" "02327" "SEC23B_000004" "g.18516367A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18535723A>G" "" "likely pathogenic" "" "0000569147" "0" "90" "20" "18491542" "18491542" "subst" "0" "02327" "SEC23B_000005" "g.18491542G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18510898G>A" "" "pathogenic" "" "0000569148" "0" "30" "20" "18491546" "18491546" "subst" "0" "01804" "SEC23B_000006" "g.18491546G>T" "" "" "" "SEC23B(NM_001172745.1):c.67G>T (p.(Val23Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18510902G>T" "" "likely benign" "" "0000569150" "0" "30" "20" "18505200" "18505200" "subst" "0.0108089" "01804" "SEC23B_000008" "g.18505200G>T" "" "" "" "SEC23B(NM_006363.6):c.490G>T (p.(Val164Leu), p.V164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18524556G>T" "" "likely benign" "" "0000569151" "0" "10" "20" "18507010" "18507010" "subst" "0.00307028" "01804" "SEC23B_000009" "g.18507010A>G" "" "" "" "SEC23B(NM_001172745.1):c.835-7A>G (p.(=)), SEC23B(NM_006363.6):c.835-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18526366A>G" "" "benign" "" "0000569153" "0" "10" "20" "18511456" "18511456" "subst" "0" "02327" "SEC23B_000001" "g.18511456A>G" "" "" "" "SEC23B(NM_032985.6):c.1233+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18530812A>G" "" "benign" "" "0000569154" "0" "10" "20" "18513350" "18513350" "subst" "0.0431817" "02327" "SEC23B_000011" "g.18513350G>A" "" "" "" "SEC23B(NM_001172745.1):c.1276G>A (p.(Val426Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18532706G>A" "" "benign" "" "0000569155" "0" "10" "20" "18513372" "18513372" "subst" "0.114822" "02327" "SEC23B_000012" "g.18513372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18532728C>T" "" "benign" "" "0000569156" "0" "30" "20" "18523002" "18523002" "subst" "0.128339" "02327" "SEC23B_000013" "g.18523002C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18542358C>G" "" "likely benign" "" "0000569157" "0" "10" "20" "18529233" "18529233" "subst" "0.376679" "02327" "SEC23B_000002" "g.18529233T>A" "" "" "" "SEC23B(NM_032985.6):c.1744-20T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18548589T>A" "" "benign" "" "0000617995" "0" "30" "20" "18506512" "18506512" "subst" "0.0120419" "01804" "SEC23B_000014" "g.18506512C>T" "" "" "" "SEC23B(NM_001172745.1):c.770C>T (p.(Thr257Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18525868C>T" "" "likely benign" "" "0000617996" "0" "30" "20" "18513350" "18513350" "subst" "0.0431817" "01804" "SEC23B_000011" "g.18513350G>A" "" "" "" "SEC23B(NM_001172745.1):c.1276G>A (p.(Val426Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18532706G>A" "" "likely benign" "" "0000650733" "1" "50" "20" "18491553" "18491553" "subst" "0.000523841" "03575" "SEC23B_000015" "g.18491553C>A" "10/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs6045440}" "Germline" "" "rs6045440" "0" "" "" "g.18510909C>A" "" "VUS" "" "0000650734" "1" "30" "20" "18505200" "18505200" "subst" "0.0108089" "03575" "SEC23B_000008" "g.18505200G>T" "139/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "139 heterozygous; {DB:CLININrs36023150}" "Germline" "" "rs36023150" "0" "" "" "g.18524556G>T" "" "likely benign" "" "0000650735" "1" "30" "20" "18513350" "18513350" "subst" "0.0431817" "03575" "SEC23B_000011" "g.18513350G>A" "73/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "73 heterozygous; {DB:CLININrs41309927}" "Germline" "" "rs41309927" "0" "" "" "g.18532706G>A" "" "likely benign" "" "0000650736" "1" "10" "20" "18523019" "18523019" "subst" "0.00170177" "03575" "SEC23B_000016" "g.18523019G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs141588462}" "Germline" "" "rs141588462" "0" "" "" "g.18542375G>A" "" "benign" "" "0000650737" "1" "30" "20" "18523800" "18523800" "subst" "0.000958586" "03575" "SEC23B_000017" "g.18523800G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111572459}" "Germline" "" "rs111572459" "0" "" "" "g.18543156G>A" "" "likely benign" "" "0000658720" "0" "50" "20" "18491553" "18491553" "subst" "0.000523841" "01804" "SEC23B_000015" "g.18491553C>A" "" "" "" "SEC23B(NM_001172745.1):c.74C>A (p.(Pro25His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18510909C>A" "" "VUS" "" "0000658721" "0" "30" "20" "18507172" "18507172" "subst" "2.03373E-5" "01804" "SEC23B_000018" "g.18507172C>T" "" "" "" "SEC23B(NM_001172745.1):c.990C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18526528C>T" "" "likely benign" "" "0000669661" "3" "50" "20" "18491553" "18491553" "subst" "0.000523841" "03575" "SEC23B_000015" "g.18491553C>A" "2/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs6045440}" "Germline" "" "rs6045440" "0" "" "" "g.18510909C>A" "" "VUS" "" "0000669662" "3" "30" "20" "18505200" "18505200" "subst" "0.0108089" "03575" "SEC23B_000008" "g.18505200G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs36023150}" "Germline" "" "rs36023150" "0" "" "" "g.18524556G>T" "" "likely benign" "" "0000669663" "3" "30" "20" "18513350" "18513350" "subst" "0.0431817" "03575" "SEC23B_000011" "g.18513350G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs41309927}" "Germline" "" "rs41309927" "0" "" "" "g.18532706G>A" "" "likely benign" "" "0000681564" "0" "10" "20" "18511472" "18511472" "dup" "0" "01804" "SEC23B_000019" "g.18511472dup" "" "" "" "SEC23B(NM_001172745.1):c.1233+12dup (p.(=)), SEC23B(NM_006363.6):c.1233+25dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681565" "0" "50" "20" "18523678" "18523678" "subst" "0.000166499" "02327" "SEC23B_000020" "g.18523678G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681566" "0" "10" "20" "18534947" "18534947" "subst" "0.00788255" "01804" "SEC23B_000021" "g.18534947G>T" "" "" "" "SEC23B(NM_001172745.1):c.2061G>T (p.(Leu687=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000684813" "0" "30" "20" "18491553" "18491553" "subst" "0.000523841" "00004" "SEC23B_000015" "g.18491553C>A" "frequency 0.015" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.18510909C>A" "" "likely benign" "" "0000692939" "0" "30" "20" "18522933" "18522933" "subst" "0.118249" "02327" "SEC23B_000022" "g.18522933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727614" "0" "30" "20" "18505229" "18505229" "subst" "0.000479262" "01943" "SEC23B_000023" "g.18505229G>A" "" "" "" "SEC23B(NM_032985.5):c.519G>A (p.V173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727615" "0" "90" "20" "18505278" "18505278" "subst" "8.1242E-6" "01943" "SEC23B_000024" "g.18505278C>T" "" "" "" "SEC23B(NM_032985.5):c.568C>T (p.R190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727616" "0" "90" "20" "18523799" "18523799" "subst" "5.2803E-5" "01943" "SEC23B_000025" "g.18523799C>T" "" "" "" "SEC23B(NM_032985.5):c.1648C>T (p.R550*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809172" "0" "50" "20" "18505200" "18505200" "subst" "0.0108089" "02327" "SEC23B_000008" "g.18505200G>T" "" "" "" "SEC23B(NM_006363.6):c.490G>T (p.(Val164Leu), p.V164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809173" "0" "30" "20" "18523663" "18523663" "subst" "0.00302548" "01943" "SEC23B_000026" "g.18523663T>C" "" "" "" "SEC23B(NM_006363.6):c.1512T>C (p.N504=), SEC23B(NM_032985.5):c.1512T>C (p.N504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855765" "0" "30" "20" "18523663" "18523663" "subst" "0.00302548" "02326" "SEC23B_000026" "g.18523663T>C" "" "" "" "SEC23B(NM_006363.6):c.1512T>C (p.N504=), SEC23B(NM_032985.5):c.1512T>C (p.N504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895233" "0" "30" "20" "18505200" "18505200" "subst" "0.0108089" "02325" "SEC23B_000008" "g.18505200G>T" "" "" "" "SEC23B(NM_006363.6):c.490G>T (p.(Val164Leu), p.V164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895234" "0" "30" "20" "18507010" "18507010" "subst" "0.00307028" "02326" "SEC23B_000009" "g.18507010A>G" "" "" "" "SEC23B(NM_001172745.1):c.835-7A>G (p.(=)), SEC23B(NM_006363.6):c.835-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915345" "0" "30" "20" "18505674" "18505674" "subst" "0.00241797" "02326" "SEC23B_000027" "g.18505674C>T" "" "" "" "SEC23B(NM_006363.6):c.689+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951410" "0" "50" "20" "18529382" "18529382" "subst" "2.03054E-5" "02325" "SEC23B_000028" "g.18529382C>A" "" "" "" "SEC23B(NM_006363.6):c.1873C>A (p.L625I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970085" "0" "30" "20" "18491545" "18491545" "subst" "0.000211173" "02326" "SEC23B_000029" "g.18491545C>T" "" "" "" "SEC23B(NM_006363.6):c.66C>T (p.N22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983744" "0" "50" "20" "18491496" "18491496" "subst" "2.43789E-5" "01804" "SEC23B_000030" "g.18491496A>T" "" "" "" "SEC23B(NM_006363.6):c.17A>T (p.(Glu6Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983745" "0" "90" "20" "18491519" "18491519" "subst" "0.000219312" "02327" "SEC23B_000031" "g.18491519C>T" "" "" "" "SEC23B(NM_006363.6):c.40C>T (p.(Arg14Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983746" "0" "50" "20" "18505076" "18505076" "subst" "4.06359E-6" "01804" "SEC23B_000032" "g.18505076G>A" "" "" "" "SEC23B(NM_006363.6):c.367-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983747" "0" "50" "20" "18523787" "18523787" "subst" "6.90445E-5" "02325" "SEC23B_000033" "g.18523787C>T" "" "" "" "SEC23B(NM_006363.6):c.1636C>T (p.R546W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983748" "0" "50" "20" "18535804" "18535804" "subst" "0" "01804" "SEC23B_000034" "g.18535804A>G" "" "" "" "SEC23B(NM_006363.6):c.2201A>G (p.(Tyr734Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005281" "0" "90" "20" "18491519" "18491519" "subst" "0.000219312" "01804" "SEC23B_000031" "g.18491519C>T" "" "" "" "SEC23B(NM_006363.6):c.40C>T (p.(Arg14Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005282" "0" "50" "20" "18491531" "18491531" "subst" "8.12229E-6" "01804" "SEC23B_000035" "g.18491531C>T" "" "" "" "SEC23B(NM_006363.6):c.52C>T (p.(Arg18Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005283" "0" "30" "20" "18491646" "18491646" "subst" "1.62426E-5" "01804" "SEC23B_000036" "g.18491646A>G" "" "" "" "SEC23B(NM_032985.4):c.167A>G (p.(Tyr56Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005284" "0" "90" "20" "18505624" "18505624" "subst" "5.28189E-5" "01804" "SEC23B_000003" "g.18505624C>T" "" "" "" "SEC23B(NM_006363.4):c.649C>T (p.(Arg217*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005285" "0" "10" "20" "18511472" "18511472" "dup" "0" "02326" "SEC23B_000019" "g.18511472dup" "" "" "" "SEC23B(NM_001172745.1):c.1233+12dup (p.(=)), SEC23B(NM_006363.6):c.1233+25dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005286" "0" "30" "20" "18513328" "18513328" "subst" "8.12407E-6" "01804" "SEC23B_000037" "g.18513328T>G" "" "" "" "SEC23B(NM_032985.4):c.1254T>G (p.(Ile418Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005287" "0" "50" "20" "18529262" "18529262" "subst" "4.87432E-5" "01804" "SEC23B_000038" "g.18529262C>T" "" "" "" "SEC23B(NM_032985.4):c.1753C>T (p.(His585Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005288" "0" "30" "20" "18541374" "18541374" "subst" "1.62452E-5" "01804" "SEC23B_000039" "g.18541374G>C" "" "" "" "SEC23B(NM_032985.4):c.2294G>C (p.(Ser765Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043268" "0" "30" "20" "18492930" "18492930" "subst" "7.09978E-5" "01804" "SEC23B_000040" "g.18492930T>C" "" "" "" "SEC23B(NM_006363.6):c.279+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043269" "0" "50" "20" "18505579" "18505579" "subst" "0" "01804" "SEC23B_000041" "g.18505579G>A" "" "" "" "SEC23B(NM_006363.6):c.604G>A (p.(Asp202Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043270" "0" "50" "20" "18511371" "18511371" "subst" "0" "01804" "SEC23B_000042" "g.18511371A>G" "" "" "" "SEC23B(NM_006363.6):c.1157A>G (p.(Gln386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043271" "0" "50" "20" "18523018" "18523018" "subst" "2.0307E-5" "01804" "SEC23B_000043" "g.18523018C>T" "" "" "" "SEC23B(NM_006363.6):c.1483C>T (p.(Arg495Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043272" "0" "50" "20" "18526682" "18526682" "subst" "2.44047E-5" "01804" "SEC23B_000044" "g.18526682G>A" "" "" "" "SEC23B(NM_006363.6):c.1743+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056856" "0" "50" "20" "18507068" "18507068" "subst" "0" "01804" "SEC23B_000045" "g.18507068C>A" "" "" "" "SEC23B(NM_006363.6):c.886C>A (p.(Pro296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056857" "0" "50" "20" "18516343" "18516343" "subst" "4.06128E-6" "01804" "SEC23B_000046" "g.18516343A>T" "" "" "" "SEC23B(NM_006363.6):c.1361A>T (p.(Asp454Val))" "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 SEC23B ## Count = 61 "{{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}}" "0000249256" "00024028" "10" "1233" "9" "1233" "9" "c.1233+9A>G" "r.(=)" "p.(=)" "" "0000298088" "00024028" "10" "1744" "-20" "1744" "-20" "c.1744-20T>A" "r.(=)" "p.(=)" "" "0000342261" "00024028" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0000350109" "00024028" "70" "1385" "0" "1385" "0" "c.1385A>G" "r.(?)" "p.(Tyr462Cys)" "" "0000569147" "00024028" "90" "63" "0" "63" "0" "c.63G>A" "r.(?)" "p.(Trp21Ter)" "" "0000569148" "00024028" "30" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Val23Leu)" "" "0000569150" "00024028" "30" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Leu)" "" "0000569151" "00024028" "10" "835" "-7" "835" "-7" "c.835-7A>G" "r.(=)" "p.(=)" "" "0000569153" "00024028" "10" "1233" "9" "1233" "9" "c.1233+9A>G" "r.(=)" "p.(=)" "" "0000569154" "00024028" "10" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Val426Ile)" "" "0000569155" "00024028" "10" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Pro433Leu)" "" "0000569156" "00024028" "30" "1467" "0" "1467" "0" "c.1467C>G" "r.(?)" "p.(His489Gln)" "" "0000569157" "00024028" "10" "1744" "-20" "1744" "-20" "c.1744-20T>A" "r.(=)" "p.(=)" "" "0000617995" "00024028" "30" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Thr257Ile)" "" "0000617996" "00024028" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Val426Ile)" "" "0000650733" "00024028" "50" "74" "0" "74" "0" "c.74C>A" "r.(?)" "p.(Pro25His)" "" "0000650734" "00024028" "30" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Leu)" "" "0000650735" "00024028" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Val426Ile)" "" "0000650736" "00024028" "10" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "0000650737" "00024028" "30" "1649" "0" "1649" "0" "c.1649G>A" "r.(?)" "p.(Arg550Gln)" "" "0000658720" "00024028" "50" "74" "0" "74" "0" "c.74C>A" "r.(?)" "p.(Pro25His)" "" "0000658721" "00024028" "30" "990" "0" "990" "0" "c.990C>T" "r.(?)" "p.(Thr330=)" "" "0000669661" "00024028" "50" "74" "0" "74" "0" "c.74C>A" "r.(?)" "p.(Pro25His)" "" "0000669662" "00024028" "30" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Leu)" "" "0000669663" "00024028" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Val426Ile)" "" "0000681564" "00024028" "10" "1233" "25" "1233" "25" "c.1233+25dup" "r.(=)" "p.(=)" "" "0000681565" "00024028" "50" "1527" "0" "1527" "0" "c.1527G>A" "r.(?)" "p.(Gln509=)" "" "0000681566" "00024028" "10" "2061" "0" "2061" "0" "c.2061G>T" "r.(?)" "p.(Leu687=)" "" "0000684813" "00024028" "30" "74" "0" "74" "0" "c.74C>A" "r.(?)" "p.(Pro25His)" "" "0000692939" "00024028" "30" "1405" "-7" "1405" "-7" "c.1405-7C>T" "r.(=)" "p.(=)" "" "0000727614" "00024028" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Val173=)" "" "0000727615" "00024028" "90" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190*)" "" "0000727616" "00024028" "90" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550*)" "" "0000809172" "00024028" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Leu)" "" "0000809173" "00024028" "30" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(Asn504=)" "" "0000855765" "00024028" "30" "1512" "0" "1512" "0" "c.1512T>C" "r.(?)" "p.(Asn504=)" "" "0000895233" "00024028" "30" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Val164Leu)" "" "0000895234" "00024028" "30" "835" "-7" "835" "-7" "c.835-7A>G" "r.(=)" "p.(=)" "" "0000915345" "00024028" "30" "689" "10" "689" "10" "c.689+10C>T" "r.(=)" "p.(=)" "" "0000951410" "00024028" "50" "1873" "0" "1873" "0" "c.1873C>A" "r.(?)" "p.(Leu625Ile)" "" "0000970085" "00024028" "30" "66" "0" "66" "0" "c.66C>T" "r.(?)" "p.(=)" "" "0000983744" "00024028" "50" "17" "0" "17" "0" "c.17A>T" "r.(?)" "p.(Glu6Val)" "" "0000983745" "00024028" "90" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0000983746" "00024028" "50" "367" "-1" "367" "-1" "c.367-1G>A" "r.spl?" "p.?" "" "0000983747" "00024028" "50" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546Trp)" "" "0000983748" "00024028" "50" "2201" "0" "2201" "0" "c.2201A>G" "r.(?)" "p.(Tyr734Cys)" "" "0001005281" "00024028" "90" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Arg14Trp)" "" "0001005282" "00024028" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Cys)" "" "0001005283" "00024028" "30" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Tyr56Cys)" "" "0001005284" "00024028" "90" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Ter)" "" "0001005285" "00024028" "10" "1233" "25" "1233" "25" "c.1233+25dup" "r.(=)" "p.(=)" "" "0001005286" "00024028" "30" "1254" "0" "1254" "0" "c.1254T>G" "r.(?)" "p.(Ile418Met)" "" "0001005287" "00024028" "50" "1753" "0" "1753" "0" "c.1753C>T" "r.(?)" "p.(His585Tyr)" "" "0001005288" "00024028" "30" "2294" "0" "2294" "0" "c.2294G>C" "r.(?)" "p.(Ser765Thr)" "" "0001043268" "00024028" "30" "279" "4" "279" "4" "c.279+4T>C" "r.spl?" "p.?" "" "0001043269" "00024028" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Asp202Asn)" "" "0001043270" "00024028" "50" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0001043271" "00024028" "50" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Cys)" "" "0001043272" "00024028" "50" "1743" "5" "1743" "5" "c.1743+5G>A" "r.spl?" "p.?" "" "0001056856" "00024028" "50" "886" "0" "886" "0" "c.886C>A" "r.(?)" "p.(Pro296Thr)" "" "0001056857" "00024028" "50" "1361" "0" "1361" "0" "c.1361A>T" "r.(?)" "p.(Asp454Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000294044" "0000650733" "0000294045" "0000650734" "0000294046" "0000650735" "0000294047" "0000650736" "0000294048" "0000650737" "0000305973" "0000669661" "0000305974" "0000669662" "0000305975" "0000669663" "0000309911" "0000684813"