### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CYP7B1) # 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}}" "CYP7B1" "cytochrome P450, family 7, subfamily B, polypeptide 1" "8" "q21.3" "unknown" "NG_008338.1" "UD_132118799206" "" "http://www.LOVD.nl/CYP7B1" "" "1" "2652" "9420" "603711" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CYP7B1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-15 11:48:40" "00000" "2024-08-28 13:16:32" ## 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}}" "00006035" "CYP7B1" "cytochrome P450, family 7, subfamily B, polypeptide 1" "001" "NM_004820.3" "" "NP_004811.1" "" "" "" "-204" "2191" "1521" "65711348" "65508529" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02078" "SPG5A" "paraplegia, spastic, autosomal recessive, type 5A (SPG-5A)" "AR" "270800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03444" "CBAS3" "bile acid synthesis defect, congenital, type 3 (CBAS-3)" "AR" "613812" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CYP7B1" "02078" "CYP7B1" "03444" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00039358" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039359" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00046994" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00046995" "" "" "" "1" "" "01330" "" "" "" "" "" "" "0" "" "" "" "" "00151810" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00248149" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00294655" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295224" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295544" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00301086" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00305201" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00403911" "" "" "" "3" "" "00435" "" "" "F" "" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00039358" "02078" "00039359" "02078" "00046994" "02078" "00046995" "02078" "00151810" "00198" "00294655" "00198" "00295224" "00198" "00295544" "00198" "00301086" "00198" "00305201" "00198" "00403911" "02078" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02078, 03444 ## Count = 9 "{{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}}" "0000029694" "02078" "00039358" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029699" "02078" "00039359" "01330" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035827" "02078" "00046994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000035828" "02078" "00046995" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000124179" "00198" "00151810" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000187150" "00198" "00248149" "01164" "Unknown" "" "HP:0002313 (Spastic paraparesis)" "" "" "" "" "" "" "" "" "" "" "" "0000223109" "00198" "00295544" "01164" "Unknown" "" "Tics (HP:0100033); Gait disturbance (HP:0001288); Sensory impairment (HP:0003474); Attention deficit hyperactivity disorder (HP:0007018)" "" "" "" "" "" "" "" "" "" "" "" "0000228391" "00198" "00301086" "01164" "Unknown" "" "Impaired proprioception (HP:0010831); Sensory ataxia (HP:0010871); Abnormality of central motor function (HP:0011442); Abnormality of nervous system physiology (HP:0012638); Hypertonia (HP:0001276); Gait disturbance (HP:0001288); Spastic gait (HP:0002064); Lower limb hyperreflexia (HP:0002395); Upper motor neuron dysfunction (HP:0002493); Abnormality of the lower limb (HP:0002814); Hip Subluxation (HP:0030043); Abnormality of the musculature (HP:0003011); Muscle cramps (HP:0003394); Babinski sign (HP:0003487); Limb fasciculations (HP:0007289)" "" "" "" "" "" "" "" "" "" "" "" "0000296576" "02078" "00403911" "00435" "Familial, autosomal recessive" "22y" "Mental Retardation \r\nProgressive spastic paraparesis" "11y" "15y" "" "" "" "" "" "" "SPG5A" "HSP" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039596" "00039358" "1" "01330" "01330" "2015-06-13 12:09:35" "" "" "SEQ" "DNA" "" "" "0000039597" "00039359" "1" "01330" "01330" "2015-06-13 12:13:43" "" "" "SEQ" "DNA" "" "" "0000047194" "00046994" "1" "01330" "01330" "2015-08-04 16:28:15" "" "" "SEQ" "DNA" "" "" "0000047195" "00046995" "1" "01330" "01330" "2015-08-04 16:30:21" "" "" "SEQ" "DNA" "" "" "0000152667" "00151810" "0" "01807" "01807" "2018-01-24 21:42:27" "" "" "SEQ" "DNA" "" "" "0000249254" "00248149" "1" "01164" "01164" "2019-07-19 11:43:21" "" "" "SEQ-NG-S" "DNA" "" "" "0000295823" "00294655" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296392" "00295224" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296714" "00295544" "1" "01164" "01164" "2020-03-18 10:47:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000302208" "00301086" "1" "01164" "01164" "2020-05-07 10:02:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000306330" "00305201" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000405151" "00403911" "1" "00435" "00435" "2022-02-24 21:29:08" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000039596" "CYP7B1" "0000039597" "CYP7B1" "0000047194" "CYP7B1" "0000047195" "CYP7B1" "0000405151" "CYP7B1" ## 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}}" "0000067198" "0" "50" "8" "65509416" "65509416" "subst" "0" "01330" "CYP7B1_000002" "g.65509416A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64596859A>G" "" "VUS" "" "0000067199" "0" "70" "8" "65509261" "65509261" "dup" "0" "01330" "CYP7B1_000001" "g.65509261dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.64596704dup" "" "likely pathogenic" "" "0000067200" "3" "50" "8" "65509398" "65509398" "subst" "0" "01330" "CYP7B1_000003" "g.65509398G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64596841G>A" "" "VUS" "" "0000075864" "0" "57" "8" "65536969" "65536969" "del" "4.0624E-6" "01330" "CYP7B1_000004" "g.65536969del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64624412del" "" "VUS" "" "0000075865" "0" "57" "8" "65509261" "65509261" "dup" "0" "01330" "CYP7B1_000001" "g.65509261dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64596704dup" "" "VUS" "" "0000251427" "0" "10" "8" "65528844" "65528844" "subst" "0" "02326" "CYP7B1_000010" "g.65528844A>G" "" "" "" "CYP7B1(NM_004820.5):c.260-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64616287A>G" "" "benign" "" "0000251428" "0" "10" "8" "65537115" "65537115" "del" "0" "02326" "CYP7B1_000012" "g.65537115del" "" "" "" "CYP7B1(NM_004820.5):c.123-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64624558del" "" "benign" "" "0000267264" "0" "70" "8" "65509264" "65509264" "subst" "0.000525112" "02325" "CYP7B1_000005" "g.65509264G>A" "" "" "" "CYP7B1(NM_004820.5):c.1456C>T (p.R486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64596707G>A" "" "likely pathogenic" "" "0000267265" "0" "90" "8" "65528776" "65528779" "del" "0" "02325" "CYP7B1_000009" "g.65528776_65528779del" "" "" "" "CYP7B1(NM_004820.5):c.321_324delACAA (p.K107Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64616219_64616222del" "" "pathogenic" "" "0000270674" "0" "30" "8" "65537104" "65537104" "subst" "0" "02326" "CYP7B1_000011" "g.65537104G>A" "" "" "" "CYP7B1(NM_004820.5):c.123-9_123-8delTCinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64624547G>A" "" "likely benign" "" "0000270675" "0" "30" "8" "65527669" "65527669" "subst" "0.0344633" "02326" "CYP7B1_000007" "g.65527669C>T" "" "" "" "(p.Arg324His), CYP7B1(NM_004820.5):c.971G>A (p.R324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64615112C>T" "" "likely benign" "" "0000274727" "0" "30" "8" "65711134" "65711134" "subst" "0.000108637" "01943" "CYP7B1_000013" "g.65711134T>A" "" "" "" "CYP7B1(NM_004820.4):c.11A>T (p.E4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64798577T>A" "" "likely benign" "" "0000274728" "0" "30" "8" "65509278" "65509278" "subst" "8.13425E-6" "01943" "CYP7B1_000006" "g.65509278C>A" "" "" "" "CYP7B1(NM_004820.4):c.1442G>T (p.G481V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64596721C>A" "" "likely benign" "" "0000274729" "0" "30" "8" "65528568" "65528568" "subst" "0.00038231" "01943" "CYP7B1_000008" "g.65528568G>A" "" "" "" "CYP7B1(NM_004820.4):c.530C>T (p.T177M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64616011G>A" "" "likely benign" "" "0000338580" "0" "10" "8" "65509087" "65509087" "subst" "0" "02327" "CYP7B1_000015" "g.65509087G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64596530G>T" "" "benign" "" "0000338583" "0" "10" "8" "65711004" "65711004" "subst" "0.456486" "02327" "CYP7B1_000021" "g.65711004T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64798447T>A" "" "benign" "" "0000341730" "0" "90" "8" "65528764" "65528764" "subst" "0.000135548" "02327" "CYP7B1_000019" "g.65528764G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64616207G>A" "" "pathogenic" "" "0000342641" "0" "10" "8" "65527669" "65527669" "subst" "0.0344633" "02327" "CYP7B1_000007" "g.65527669C>T" "" "" "" "(p.Arg324His), CYP7B1(NM_004820.5):c.971G>A (p.R324H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64615112C>T" "" "benign" "" "0000342987" "0" "70" "8" "65509264" "65509264" "subst" "0.000525112" "02327" "CYP7B1_000005" "g.65509264G>A" "" "" "" "CYP7B1(NM_004820.5):c.1456C>T (p.R486C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64596707G>A" "" "likely pathogenic" "" "0000346975" "0" "10" "8" "65711089" "65711089" "subst" "0.00301102" "02327" "CYP7B1_000022" "g.65711089A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64798532A>G" "" "benign" "" "0000347368" "0" "90" "8" "65528776" "65528779" "del" "0" "02327" "CYP7B1_000020" "g.65528776_65528779del" "" "" "" "CYP7B1(NM_004820.5):c.321_324delACAA (p.K107Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64616219_64616222del" "" "pathogenic" "" "0000350021" "0" "90" "8" "65528273" "65528273" "subst" "8.15494E-5" "02327" "CYP7B1_000017" "g.65528273A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64615716A>T" "" "pathogenic" "" "0000350070" "0" "90" "8" "65517317" "65517317" "subst" "0" "02327" "CYP7B1_000016" "g.65517317G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64604760G>C" "" "pathogenic" "" "0000351491" "0" "50" "8" "65517411" "65517411" "subst" "4.08107E-6" "01807" "CYP7B1_000014" "g.65517411C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64604854C>T" "" "VUS" "" "0000577983" "3" "70" "8" "65509264" "65509264" "subst" "0.000525112" "01164" "CYP7B1_000005" "g.65509264G>A" "" "" "" "" "ACMG grading: PM6,PP5,PP3,PM3,PP1; reported in Goizet 2009. Brain 132: 1589; Roos 2014. Acta Neurol Scand 129: 330; Schlipf 2011. Clin Genet 80: 148" "Germline" "" "rs116171274" "0" "" "" "g.64596707G>A" "" "likely pathogenic" "ACMG" "0000611697" "0" "90" "8" "65517281" "65517282" "dup" "0" "02326" "CYP7B1_000024" "g.65517281_65517282dup" "" "" "" "CYP7B1(NM_004820.5):c.1191_1192dupTC (p.P398Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64604724_64604725dup" "" "pathogenic" "" "0000622085" "0" "50" "8" "65509252" "65509252" "subst" "0" "02325" "CYP7B1_000023" "g.65509252C>A" "" "" "" "CYP7B1(NM_004820.5):c.1468G>T (p.G490C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64596695C>A" "" "VUS" "" "0000652512" "1" "30" "8" "65527669" "65527669" "subst" "0.0344633" "03575" "CYP7B1_000007" "g.65527669C>T" "208/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININrs59035258}" "Germline" "" "rs59035258" "0" "" "" "g.64615112C>T" "" "likely benign" "" "0000653081" "1" "50" "8" "65509264" "65509264" "subst" "0.000525112" "03575" "CYP7B1_000005" "g.65509264G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs116171274}" "Germline" "" "rs116171274" "0" "" "" "g.64596707G>A" "" "VUS" "" "0000653410" "0" "70" "8" "65509392" "65509392" "subst" "0" "01164" "CYP7B1_000025" "g.65509392C>G" "" "" "" "" "Arnoldi et al. 2012. ClinGenet 81: 150-7" "Germline" "" "" "0" "" "" "g.64596835C>G" "" "likely pathogenic" "ACMG" "0000653411" "0" "50" "8" "65528697" "65528697" "subst" "0" "01164" "CYP7B1_000026" "g.65528697A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.64616140A>C" "" "VUS" "ACMG" "0000665320" "3" "70" "8" "65509392" "65509392" "subst" "0" "01164" "CYP7B1_000025" "g.65509392C>G" "" "" "" "" "2-generation family, 1 affected, unaffected heterozygous carrier parentspatient’s sister was similarly affected but without significant scoliosis." "Germline" "" "" "0" "" "" "g.64596835C>G" "" "likely pathogenic" "" "0000670018" "3" "30" "8" "65527669" "65527669" "subst" "0.0344633" "03575" "CYP7B1_000007" "g.65527669C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs59035258}" "Germline" "" "rs59035258" "0" "" "" "g.64615112C>T" "" "likely benign" "" "0000678422" "0" "50" "8" "65517270" "65517270" "subst" "4.06101E-6" "02327" "CYP7B1_000028" "g.65517270T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678423" "0" "50" "8" "65536969" "65536971" "del" "0" "02327" "CYP7B1_000029" "g.65536969_65536971del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "" "" "0000690316" "0" "50" "8" "65527751" "65527751" "subst" "3.25614E-5" "01943" "CYP7B1_000030" "g.65527751T>C" "" "" "" "CYP7B1(NM_004820.4):c.889A>G (p.T297A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722072" "0" "50" "8" "65509471" "65509471" "subst" "5.31111E-5" "01943" "CYP7B1_000031" "g.65509471G>A" "" "" "" "CYP7B1(NM_004820.4):c.1249C>T (p.R417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722073" "0" "30" "8" "65527641" "65527641" "subst" "4.06421E-6" "01943" "CYP7B1_000032" "g.65527641T>C" "" "" "" "CYP7B1(NM_004820.4):c.999A>G (p.K333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722074" "0" "90" "8" "65528712" "65528712" "del" "0" "02329" "CYP7B1_000033" "g.65528712del" "" "" "" "CYP7B1(NM_004820.5):c.392delA (p.N131Ifs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722075" "0" "30" "8" "65711055" "65711055" "subst" "7.62864E-5" "01943" "CYP7B1_000034" "g.65711055G>A" "" "" "" "CYP7B1(NM_004820.4):c.90C>T (p.L30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803725" "0" "30" "8" "65500320" "65500320" "subst" "0" "01943" "BHLHE22_000004" "g.65500320C>T" "" "" "" "CYP7B1(NM_001324112.1):c.1313G>A (p.R438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803726" "0" "30" "8" "65509280" "65509280" "subst" "0" "01943" "CYP7B1_000035" "g.65509280T>C" "" "" "" "CYP7B1(NM_004820.4):c.1440A>G (p.I480M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841219" "3" "90" "8" "65527751" "65527751" "subst" "3.25614E-5" "00435" "CYP7B1_000030" "g.65527751T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000851985" "0" "70" "8" "65711044" "65711044" "del" "0" "01943" "CYP7B1_000037" "g.65711044del" "" "" "" "CYP7B1(NM_004820.4):c.101delG (p.C34Sfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861275" "0" "30" "8" "65528453" "65528453" "subst" "2.44308E-5" "01943" "CYP7B1_000036" "g.65528453A>G" "" "" "" "CYP7B1(NM_004820.4):c.645T>C (p.D215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924901" "0" "50" "8" "65528673" "65528673" "subst" "0" "02327" "CYP7B1_000038" "g.65528673T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997297" "0" "90" "8" "65528776" "65528779" "del" "0" "02329" "CYP7B1_000009" "g.65528776_65528779del" "" "" "" "CYP7B1(NM_004820.5):c.321_324delACAA (p.K107Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 CYP7B1 ## 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}}" "0000067198" "00006035" "50" "1304" "0" "1304" "0" "c.1304T>C" "r.(?)" "p.(Leu435Pro)" "6" "0000067199" "00006035" "70" "1460" "0" "1460" "0" "c.1460dup" "r.(?)" "p.(Leu487Phefs*11)" "6" "0000067200" "00006035" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Pro441Leu)" "6" "0000075864" "00006035" "57" "250" "0" "250" "0" "c.250del" "r.(?)" "p.(Leu84Phefs*7)" "2" "0000075865" "00006035" "57" "1460" "0" "1460" "0" "c.1460dup" "r.(?)" "p.(Leu487Phefs*11)" "6" "0000251427" "00006035" "10" "260" "-6" "260" "-6" "c.260-6T>C" "r.(=)" "p.(=)" "" "0000251428" "00006035" "10" "123" "-9" "123" "-9" "c.123-9del" "r.(=)" "p.(=)" "" "0000267264" "00006035" "70" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "" "0000267265" "00006035" "90" "321" "0" "324" "0" "c.321_324del" "r.(?)" "p.(Lys107AsnfsTer2)" "" "0000270674" "00006035" "30" "123" "-8" "123" "-8" "c.123-8C>T" "r.(=)" "p.(=)" "" "0000270675" "00006035" "30" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000274727" "00006035" "30" "11" "0" "11" "0" "c.11A>T" "r.(?)" "p.(Glu4Val)" "" "0000274728" "00006035" "30" "1442" "0" "1442" "0" "c.1442G>T" "r.(?)" "p.(Gly481Val)" "" "0000274729" "00006035" "30" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Thr177Met)" "" "0000338580" "00006035" "10" "1633" "0" "1633" "0" "c.*112C>A" "r.(=)" "p.(=)" "" "0000338583" "00006035" "10" "122" "19" "122" "19" "c.122+19A>T" "r.(=)" "p.(=)" "" "0000341730" "00006035" "90" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Ter)" "" "0000342641" "00006035" "10" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000342987" "00006035" "70" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "" "0000346975" "00006035" "10" "56" "0" "56" "0" "c.56T>C" "r.(?)" "p.(Leu19Pro)" "" "0000347368" "00006035" "90" "321" "0" "324" "0" "c.321_324del" "r.(?)" "p.(Lys107AsnfsTer2)" "" "0000350021" "00006035" "90" "825" "0" "825" "0" "c.825T>A" "r.(?)" "p.(Tyr275Ter)" "" "0000350070" "00006035" "90" "1155" "0" "1155" "0" "c.1155C>G" "r.(?)" "p.(Tyr385Ter)" "" "0000351491" "00006035" "50" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Ser354Asn)" "" "0000577983" "00006035" "70" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.Arg486Cys" "" "0000611697" "00006035" "90" "1191" "0" "1192" "0" "c.1191_1192dup" "r.(?)" "p.(Pro398LeufsTer23)" "" "0000622085" "00006035" "50" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Gly490Cys)" "" "0000652512" "00006035" "30" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000653081" "00006035" "50" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Cys)" "" "0000653410" "00006035" "70" "1328" "0" "1328" "0" "c.1328G>C" "r.(?)" "p.(Gly443Ala)" "" "0000653411" "00006035" "50" "401" "0" "401" "0" "c.401T>G" "r.(?)" "p.(Met134Arg)" "" "0000665320" "00006035" "70" "1328" "0" "1328" "0" "c.1328G>C" "r.(?)" "p.(Gly443Ala)" "" "0000670018" "00006035" "30" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324His)" "" "0000678422" "00006035" "50" "1202" "0" "1202" "0" "c.1202A>G" "r.(?)" "p.(His401Arg)" "" "0000678423" "00006035" "50" "253" "0" "255" "0" "c.253_255del" "r.(?)" "p.(Leu85del)" "" "0000690316" "00006035" "50" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Thr297Ala)" "" "0000722072" "00006035" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Cys)" "" "0000722073" "00006035" "30" "999" "0" "999" "0" "c.999A>G" "r.(?)" "p.(Lys333=)" "" "0000722074" "00006035" "90" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Asn131Ilefs*4)" "" "0000722075" "00006035" "30" "90" "0" "90" "0" "c.90C>T" "r.(?)" "p.(Leu30=)" "" "0000803725" "00006035" "30" "10400" "0" "10400" "0" "c.*8879G>A" "r.(=)" "p.(=)" "" "0000803726" "00006035" "30" "1440" "0" "1440" "0" "c.1440A>G" "r.(?)" "p.(Ile480Met)" "" "0000841219" "00006035" "90" "889" "0" "889" "0" "c.889A>G" "r.(?)" "p.(Thr297Ala)" "4" "0000851985" "00006035" "70" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Cys34Serfs*15)" "" "0000861275" "00006035" "30" "645" "0" "645" "0" "c.645T>C" "r.(?)" "p.(Asp215=)" "" "0000924901" "00006035" "50" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Tyr142Cys)" "" "0000997297" "00006035" "90" "321" "0" "324" "0" "c.321_324del" "r.(?)" "p.(Lys107AsnfsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000039596" "0000067198" "0000039596" "0000067199" "0000039597" "0000067200" "0000047194" "0000075864" "0000047195" "0000075865" "0000152667" "0000351491" "0000249254" "0000577983" "0000295823" "0000652512" "0000296392" "0000653081" "0000296714" "0000653410" "0000296714" "0000653411" "0000302208" "0000665320" "0000306330" "0000670018" "0000405151" "0000841219"