### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CREB3L1) # 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}}" "CREB3L1" "cAMP responsive element binding protein 3-like 1" "11" "q11.2" "unknown" "NC_000011.9" "UD_136022130762" "" "https://www.LOVD.nl/CREB3L1" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "18856" "90993" "616215" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/CREB3L1_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2022-04-05 12:52:49" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025612" "CREB3L1" "cAMP responsive element binding protein 3-like 1" "001" "NM_052854.3" "" "NP_443086.1" "" "" "" "-474" "2236" "1560" "46299189" "46342972" "00006" "2021-05-11 20:36:46" "" "" ## 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}}" "00637" "OI2" "osteogenesis imperfecta, type II (OI2)" "AD" "166210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:56:03" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05936" "OI16" "osteogenesis imperfecta type XVI (OI16)" "AR" "616229" "" "" "" "00006" "2021-05-16 21:48:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CREB3L1" "05296" "CREB3L1" "05936" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00373326" "" "" "" "1" "" "00085" "{PMID:Symoens 2013:24079343}" "The proband phenotype is described as severe and probably best corresponds to OI II/III." "" "" "Turkey" "" "0" "" "" "" "" "00373327" "" "" "" "1" "" "01819" "{PMID:Guillemyn 2019:30657919}" "" "" "" "Turkey" "" "0" "" "" "" "" "00373328" "" "" "" "1" "" "00085" "{PMID:Keller 2017:28817112}" "" "" "" "" "" "0" "" "" "" "VI-7" "00373329" "" "" "" "1" "" "00085" "{PMID:Lindahl 2018:29936144}" "affected individual is described as having severe OI with blue sclerae and tooth agenesis. Two unaffected siblings were carriers of the variant and two were homozygous WT." "" "" "Somalia" "" "0" "" "" "" "" "00373330" "" "" "" "1" "" "00085" "{PMID:Cayami et al.,2019:31207160}" "There are three affected adult individuals in this family, each of whom is homozygous for the pathogenic variant." "" "" "Indonesia" "" "0" "" "" "" "P1" "00434982" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat1" "00435017" "" "" "" "1" "" "04465" "{PMID:Kalayci 2023:36398383}" "" "?" "?" "Turkey" "00y00m" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00373326" "05296" "00373327" "05296" "00373328" "05296" "00373329" "05296" "00373330" "05296" "00434982" "00637" "00435017" "00637" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00637, 05296, 05936 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000268602" "05296" "00373326" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI II/III" "0000268603" "05296" "00373327" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI II" "0000268604" "05296" "00373328" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268605" "05296" "00373329" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI" "0000268606" "05296" "00373330" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "OI III" "0000325229" "00637" "00434982" "04465" "Unknown" "00m00y" "" "" "" "" "" "" "" "" "" "" "0000325259" "00637" "00435017" "04465" "Unknown" "00y00m" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000374560" "00373326" "1" "00085" "00085" "2013-10-02 16:28:55" "" "" "arrayCGH" "DNA" "" "" "0000374561" "00373327" "1" "01819" "01819" "2018-12-04 08:57:48" "00085" "2019-03-19 15:26:54" "SEQ-NG" "DNA" "" "custom gene panel" "0000374562" "00373328" "1" "00085" "00085" "2017-08-21 14:01:33" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374563" "00373329" "1" "00085" "00085" "2018-06-25 15:07:20" "00085" "2018-06-25 15:09:40" "SEQ-NG;SEQ" "DNA" "" "custom gene panel" "0000374564" "00373330" "1" "00085" "00085" "2019-08-13 11:07:33" "00085" "2019-08-22 16:17:35" "SEQ" "DNA" "" "WES" "0000436455" "00434982" "1" "04465" "04465" "2023-04-17 16:46:28" "" "" "SEQ-NG" "DNA" "" "" "0000436490" "00435017" "1" "04465" "04465" "2023-04-19 16:56:34" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000374560" "CREB3L1" "0000374561" "CREB3L1" "0000374562" "CREB3L1" "0000374563" "CREB3L1" "0000374564" "CREB3L1" ## 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 = 47 "{{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}}" "0000250330" "0" "30" "11" "46332586" "46332586" "subst" "0.00356867" "02329" "CREB3L1_000026" "g.46332586A>T" "" "" "" "CREB3L1(NM_052854.2):c.599A>T (p.(Asp200Val)), CREB3L1(NM_052854.4):c.599A>T (p.D200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46311035A>T" "" "likely benign" "" "0000268569" "0" "10" "11" "46338977" "46338977" "subst" "0.0094796" "02329" "CREB3L1_000029" "g.46338977C>T" "" "" "" "CREB3L1(NM_052854.4):c.1197C>T (p.S399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46317426C>T" "" "benign" "" "0000268570" "0" "10" "11" "46339011" "46339011" "subst" "0.0680617" "02329" "CREB3L1_000006" "g.46339011G>A" "" "" "" "CREB3L1(NM_052854.4):c.1231G>A (p.A411T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46317460G>A" "" "benign" "" "0000268571" "0" "10" "11" "46342085" "46342085" "del" "0" "02329" "CREB3L1_000007" "g.46342085del" "" "" "" "CREB3L1(NM_052854.4):c.1523+6delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46320534del" "" "benign" "" "0000268573" "0" "10" "11" "46342283" "46342283" "subst" "0.00647355" "02329" "CREB3L1_000009" "g.46342283T>G" "" "" "" "CREB3L1(NM_052854.2):c.1547T>G (p.(Ile516Ser)), CREB3L1(NM_052854.4):c.1547T>G (p.I516S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46320733T>G" "" "benign" "" "0000268574" "0" "30" "11" "46329485" "46329485" "subst" "0.000632032" "02329" "CREB3L1_000025" "g.46329485G>A" "" "" "" "CREB3L1(NM_052854.4):c.450G>A (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46307934G>A" "" "likely benign" "" "0000268575" "0" "10" "11" "46334239" "46334239" "subst" "0.072663" "02329" "CREB3L1_000027" "g.46334239G>A" "" "" "" "CREB3L1(NM_052854.4):c.962+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46312688G>A" "" "benign" "" "0000322218" "0" "50" "11" "46338930" "46338930" "subst" "2.03095E-5" "01804" "CREB3L1_000028" "g.46338930G>T" "" "" "" "CREB3L1(NM_052854.2):c.1150G>T (p.(Val384Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46317379G>T" "" "VUS" "" "0000543986" "0" "30" "11" "46321572" "46321572" "subst" "8.12374E-6" "02329" "CREB3L1_000010" "g.46321572G>A" "" "" "" "CREB3L1(NM_052854.4):c.189G>A (p.V63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46300021G>A" "" "likely benign" "" "0000543987" "0" "30" "11" "46329489" "46329489" "subst" "0.00758608" "01804" "CREB3L1_000011" "g.46329489G>A" "" "" "" "CREB3L1(NM_052854.2):c.454G>A (p.(Ala152Thr)), CREB3L1(NM_052854.4):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46307938G>A" "" "likely benign" "" "0000543988" "0" "10" "11" "46329489" "46329489" "subst" "0.00758608" "02329" "CREB3L1_000011" "g.46329489G>A" "" "" "" "CREB3L1(NM_052854.2):c.454G>A (p.(Ala152Thr)), CREB3L1(NM_052854.4):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46307938G>A" "" "benign" "" "0000543989" "0" "30" "11" "46332638" "46332638" "subst" "0.000487675" "02329" "CREB3L1_000012" "g.46332638C>T" "" "" "" "CREB3L1(NM_052854.4):c.651C>T (p.D217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46311087C>T" "" "likely benign" "" "0000543990" "0" "10" "11" "46332703" "46332703" "subst" "0.0140603" "02329" "CREB3L1_000013" "g.46332703C>T" "" "" "" "CREB3L1(NM_052854.4):c.716C>T (p.T239M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46311152C>T" "" "benign" "" "0000543991" "0" "30" "11" "46334038" "46334038" "subst" "0.000270319" "02329" "CREB3L1_000014" "g.46334038A>T" "" "" "" "CREB3L1(NM_052854.4):c.903+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46312487A>T" "" "likely benign" "" "0000543992" "0" "30" "11" "46337910" "46337910" "subst" "0.000151337" "02329" "CREB3L1_000015" "g.46337910G>A" "" "" "" "CREB3L1(NM_052854.4):c.1105G>A (p.A369T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46316359G>A" "" "likely benign" "" "0000543993" "0" "10" "11" "46338974" "46338974" "subst" "0.00164206" "02329" "CREB3L1_000016" "g.46338974C>T" "" "" "" "CREB3L1(NM_052854.4):c.1194C>T (p.S398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46317423C>T" "" "benign" "" "0000543994" "0" "30" "11" "46341881" "46341881" "subst" "0.00149755" "01804" "CREB3L1_000017" "g.46341881T>G" "" "" "" "CREB3L1(NM_052854.2):c.1325T>G (p.(Leu442Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46320330T>G" "" "likely benign" "" "0000543995" "0" "30" "11" "46342060" "46342060" "subst" "3.86706E-5" "01804" "CREB3L1_000018" "g.46342060A>C" "" "" "" "CREB3L1(NM_052854.2):c.1504A>C (p.(Lys502Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46320509A>C" "" "likely benign" "" "0000543996" "0" "10" "11" "46342261" "46342261" "dup" "0" "01804" "CREB3L1_000019" "g.46342261dup" "" "" "" "CREB3L1(NM_052854.2):c.1524-1_1524insG (p.(Asp509GlyfsTer156)), CREB3L1(NM_052854.4):c.1524-1_1524insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46320711dup" "" "benign" "" "0000543997" "0" "10" "11" "46342261" "46342261" "dup" "0" "02329" "CREB3L1_000019" "g.46342261dup" "" "" "" "CREB3L1(NM_052854.2):c.1524-1_1524insG (p.(Asp509GlyfsTer156)), CREB3L1(NM_052854.4):c.1524-1_1524insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46320711dup" "" "benign" "" "0000613345" "0" "50" "11" "46332654" "46332654" "subst" "2.50845E-5" "01804" "CREB3L1_000020" "g.46332654C>T" "" "" "" "CREB3L1(NM_052854.2):c.667C>T (p.(Arg223Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46311103C>T" "" "VUS" "" "0000613346" "0" "50" "11" "46337910" "46337910" "subst" "0.000151337" "02325" "CREB3L1_000015" "g.46337910G>A" "" "" "" "CREB3L1(NM_052854.4):c.1105G>A (p.A369T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46316359G>A" "" "VUS" "" "0000679191" "0" "30" "11" "46329498" "46329498" "subst" "0.000351617" "01804" "CREB3L1_000021" "g.46329498A>C" "" "" "" "CREB3L1(NM_052854.2):c.463A>C (p.(Thr155Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679192" "0" "50" "11" "46332694" "46332694" "subst" "0.000115223" "01804" "CREB3L1_000022" "g.46332694G>A" "" "" "" "CREB3L1(NM_052854.2):c.707G>A (p.(Arg236His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691070" "0" "30" "11" "46341944" "46341944" "subst" "7.55921E-5" "01804" "CREB3L1_000023" "g.46341944C>T" "" "" "" "CREB3L1(NM_052854.2):c.1388C>T (p.(Pro463Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723454" "0" "30" "11" "46332740" "46332740" "subst" "0.0015647" "01804" "CREB3L1_000024" "g.46332740C>T" "" "" "" "CREB3L1(NM_052854.2):c.753C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785352" "3" "99" "11" "0" "0" "?" "0" "00085" "CREB3L1_000001" "g.?" "" "{PMID:Symoens 2013:24079343}" "" "arr11p11.2(46268141–46359490)×0" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785353" "3" "99" "11" "46334170" "46334170" "subst" "0" "01819" "CREB3L1_000004" "g.46334170C>T" "" "{PMID:Guillemyn 2019:30657919}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785354" "3" "99" "11" "46334193" "46334195" "del" "0" "00085" "CREB3L1_000002" "g.46334193_46334195del" "" "{PMID:Keller 2017:28817112}" "" "" "The sequence variant results in mild OI in heterozygous individuals and severe/lethal OI in homozygotes." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785355" "3" "99" "11" "46341840" "46341840" "subst" "0" "00085" "CREB3L1_000003" "g.46341840C>A" "" "{PMID:Lindahl 2018:29936144}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785356" "3" "99" "11" "46341921" "46341921" "del" "0" "00085" "CREB3L1_000005" "g.46341921del" "" "{PMID:Cayami et al.,2019:31207160}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000805128" "0" "30" "11" "46341926" "46341926" "subst" "4.22926E-6" "01804" "CREB3L1_000030" "g.46341926G>T" "" "" "" "CREB3L1(NM_052854.2):c.1370G>T (p.(Gly457Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862536" "0" "30" "11" "46329436" "46329436" "subst" "2.69635E-5" "01804" "CREB3L1_000031" "g.46329436C>G" "" "" "" "CREB3L1(NM_052854.2):c.401C>G (p.(Pro134Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862537" "0" "30" "11" "46342283" "46342283" "subst" "0.00647355" "01804" "CREB3L1_000009" "g.46342283T>G" "" "" "" "CREB3L1(NM_052854.2):c.1547T>G (p.(Ile516Ser)), CREB3L1(NM_052854.4):c.1547T>G (p.I516S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889834" "0" "50" "11" "46331570" "46331570" "subst" "1.73536E-5" "01804" "CREB3L1_000032" "g.46331570A>T" "" "" "" "CREB3L1(NM_052854.2):c.547A>T (p.(Ile183Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889835" "0" "30" "11" "46332586" "46332586" "subst" "0.00356867" "01804" "CREB3L1_000026" "g.46332586A>T" "" "" "" "CREB3L1(NM_052854.2):c.599A>T (p.(Asp200Val)), CREB3L1(NM_052854.4):c.599A>T (p.D200V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925386" "0" "30" "11" "46299828" "46299828" "subst" "0" "02329" "CREB3L1_000033" "g.46299828C>T" "" "" "" "CREB3L1(NM_052854.4):c.102+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925387" "0" "30" "11" "46329479" "46329479" "subst" "0" "02329" "CREB3L1_000034" "g.46329479T>G" "" "" "" "CREB3L1(NM_052854.4):c.444T>G (p.A148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927441" "3" "90" "11" "46334170" "46334170" "subst" "0" "04465" "CREB3L1_000004" "g.46334170C>T" "" "{PMID:Kalayci 2023:36398383}" "" "" "" "Unknown" "" "" "0" "" "" "g.46312619C>T" "" "pathogenic (recessive)" "" "0000927494" "3" "90" "11" "46329509" "46342972" "del" "0" "04465" "CREB3L1_000035" "g.(?_46329509)_(46342972_?)del" "" "{PMID:Kalayci 2023:36398383}" "" "whole gene deletion" "" "Germline/De novo (untested)" "" "" "0" "" "arr11p11.2(46268141–46,359,490)×0" "g.(?_46307958)_(46321422_?)del" "" "pathogenic (recessive)" "" "0000929867" "0" "30" "11" "46331631" "46331631" "subst" "4.93708E-5" "02329" "CREB3L1_000036" "g.46331631A>G" "" "" "" "CREB3L1(NM_052854.4):c.595+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929868" "0" "30" "11" "46338965" "46338965" "subst" "0.000694794" "02329" "CREB3L1_000037" "g.46338965C>T" "" "" "" "CREB3L1(NM_052854.4):c.1185C>T (p.P395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966371" "0" "30" "11" "46341802" "46341802" "subst" "0.000339425" "02329" "CREB3L1_000038" "g.46341802A>G" "" "" "" "CREB3L1(NM_052854.4):c.1259-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014794" "0" "30" "11" "46341889" "46341889" "subst" "0.000537888" "02329" "CREB3L1_000039" "g.46341889A>G" "" "" "" "CREB3L1(NM_052854.4):c.1333A>G (p.M445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025977" "0" "30" "11" "46321657" "46321657" "subst" "0.000680106" "02329" "CREB3L1_000040" "g.46321657G>A" "" "" "" "CREB3L1(NM_052854.4):c.274G>A (p.G92S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038463" "0" "70" "11" "46329410" "46329411" "delins" "0" "01804" "CREB3L1_000041" "g.46329410_46329411delinsT" "" "" "" "CREB3L1(NM_052854.4):c.375_376delinsT (p.(Ile126Serfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038464" "0" "50" "11" "46342084" "46342085" "ins" "0" "01804" "CREB3L1_000042" "g.46342084_46342085insTGTGTGGCCCCTTTG" "" "" "" "CREB3L1(NM_052854.4):c.1523+5_1523+6insTGTGTGGCCCCTTTG" "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 CREB3L1 ## Count = 47 "{{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}}" "0000250330" "00025612" "30" "599" "0" "599" "0" "c.599A>T" "r.(?)" "p.(Asp200Val)" "" "0000268569" "00025612" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Ser399=)" "" "0000268570" "00025612" "10" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Ala411Thr)" "" "0000268571" "00025612" "10" "1523" "6" "1523" "6" "c.1523+6del" "r.(=)" "p.(=)" "" "0000268573" "00025612" "10" "1547" "0" "1547" "0" "c.1547T>G" "r.(?)" "p.(Ile516Ser)" "" "0000268574" "00025612" "30" "450" "0" "450" "0" "c.450G>A" "r.(?)" "p.(Ala150=)" "" "0000268575" "00025612" "10" "962" "18" "962" "18" "c.962+18G>A" "r.(=)" "p.(=)" "" "0000322218" "00025612" "50" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Val384Phe)" "" "0000543986" "00025612" "30" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Val63=)" "" "0000543987" "00025612" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Ala152Thr)" "" "0000543988" "00025612" "10" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Ala152Thr)" "" "0000543989" "00025612" "30" "651" "0" "651" "0" "c.651C>T" "r.(?)" "p.(Asp217=)" "" "0000543990" "00025612" "10" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000543991" "00025612" "30" "903" "13" "903" "13" "c.903+13A>T" "r.(=)" "p.(=)" "" "0000543992" "00025612" "30" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Ala369Thr)" "" "0000543993" "00025612" "10" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ser398=)" "" "0000543994" "00025612" "30" "1325" "0" "1325" "0" "c.1325T>G" "r.(?)" "p.(Leu442Arg)" "" "0000543995" "00025612" "30" "1504" "0" "1504" "0" "c.1504A>C" "r.(?)" "p.(Lys502Gln)" "" "0000543996" "00025612" "10" "1525" "0" "1525" "0" "c.1525dup" "r.(?)" "p.(Asp509GlyfsTer156)" "" "0000543997" "00025612" "10" "1525" "0" "1525" "0" "c.1525dup" "r.(?)" "p.(Asp509GlyfsTer156)" "" "0000613345" "00025612" "50" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Arg223Cys)" "" "0000613346" "00025612" "50" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Ala369Thr)" "" "0000679191" "00025612" "30" "463" "0" "463" "0" "c.463A>C" "r.(?)" "p.(Thr155Pro)" "" "0000679192" "00025612" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236His)" "" "0000691070" "00025612" "30" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Pro463Leu)" "" "0000723454" "00025612" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(His251=)" "" "0000785352" "00025612" "99" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_12_" "0000785353" "00025612" "99" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ala304Val)" "7" "0000785354" "00025612" "99" "934" "0" "936" "0" "c.934_936del" "r.(?)" "p.(Lys312del)" "7" "0000785355" "00025612" "99" "1284" "0" "1284" "0" "c.1284C>A" "r.(?)" "p.(Tyr428*)" "11" "0000785356" "00025612" "99" "1365" "0" "1365" "0" "c.1365del" "r.(?)" "p.Pro458Argfs*25" "11" "0000805128" "00025612" "30" "1370" "0" "1370" "0" "c.1370G>T" "r.(?)" "p.(Gly457Val)" "" "0000862536" "00025612" "30" "401" "0" "401" "0" "c.401C>G" "r.(?)" "p.(Pro134Arg)" "" "0000862537" "00025612" "30" "1547" "0" "1547" "0" "c.1547T>G" "r.(?)" "p.(Ile516Ser)" "" "0000889834" "00025612" "50" "547" "0" "547" "0" "c.547A>T" "r.(?)" "p.(Ile183Phe)" "" "0000889835" "00025612" "30" "599" "0" "599" "0" "c.599A>T" "r.(?)" "p.(Asp200Val)" "" "0000925386" "00025612" "30" "102" "64" "102" "64" "c.102+64C>T" "r.(=)" "p.(=)" "" "0000925387" "00025612" "30" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.(Ala148=)" "" "0000927441" "00025612" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ala304Val)" "" "0000927494" "00025612" "90" "0" "0" "0" "0" "c.-474_*676{0}" "r.?" "p.?" "_1_12_" "0000929867" "00025612" "30" "595" "13" "595" "13" "c.595+13A>G" "r.(=)" "p.(=)" "" "0000929868" "00025612" "30" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(=)" "" "0000966371" "00025612" "30" "1259" "-13" "1259" "-13" "c.1259-13A>G" "r.(=)" "p.(=)" "" "0001014794" "00025612" "30" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Met445Val)" "" "0001025977" "00025612" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Ser)" "" "0001038463" "00025612" "70" "375" "0" "376" "0" "c.375_376delinsT" "r.(?)" "p.(Ile126Serfs*3)" "" "0001038464" "00025612" "50" "1523" "5" "1523" "6" "c.1523+5_1523+6insTGTGTGGCCCCTTTG" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000374560" "0000785352" "0000374561" "0000785353" "0000374562" "0000785354" "0000374563" "0000785355" "0000374564" "0000785356" "0000436455" "0000927441" "0000436490" "0000927494"