### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VDR) # 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}}" "VDR" "vitamin D (1,25- dihydroxyvitamin D3) receptor" "12" "q12-q14" "unknown" "NC_000012.11" "UD_132118993471" "" "https://www.LOVD.nl/VDR" "" "1" "12679" "7421" "601769" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VDR_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2026-04-26 10:16:11" "00006" "2026-04-26 13:40:26" ## 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}}" "00000466" "VDR" "transcript variant 1" "001" "NM_000376.2" "" "NP_000367.1" "" "" "" "-160" "4493" "1284" "48235320" "48298814" "00000" "2012-09-13 12:19:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01484" "-" "osteoporosis" "AD" "166710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02122" "VDDR2A" "vitamin D-dependent rickets, type 2A (VDDR-2A)" "AR" "277440" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06886" "hypophosphatemia" "hypophosphatemia" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2026-04-26 13:37:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VDR" "01484" "VDR" "02122" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00180753" "" "" "" "140" "" "02555" "{PMID:Zakraoui 2012:21820934}" "Iranian cohort" "F;M" "" "Iran" "" "0" "{DB:Uveo2778?snp=rs10735810%20&t=1535613943}" "" "Iranian" "" "00290704" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290705" "" "" "" "89" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290706" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304356" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00390720" "" "" "" "1" "" "00006" "{PMID:Gazdagh 2019:29698805}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00469873" "" "" "" "1" "" "00006" "{PMID:Jacob 2023:36692815}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "Pat5;?" "00477389" "" "" "" "2" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477390" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477391" "" "" "" "4" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477392" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477393" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477394" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00180753" "05467" "00290704" "00198" "00290705" "00198" "00290706" "00198" "00304356" "00198" "00390720" "05611" "00469873" "05517" "00477389" "06886" "00477390" "06886" "00477391" "06886" "00477392" "06886" "00477393" "06886" "00477394" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01484, 02122, 05467, 05517, 05611, 06886 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000143148" "05467" "00180753" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000284208" "05611" "00390720" "00006" "Familial, autosomal dominant" "6y10m" "no intrauterine growth retardation; short stature (-2.0 SD); developmental delay; relative macrocephaly,; strabismus; high broad forehead, down-slanting palpebral fissures, slightly low-set posteriorly rotated ears; hypoplastic nails (especially digits 3,4 and 5); mildly dysmorphic corpus callosum (curved with thin elongated splenium), delayed myelination" "" "" "" "" "" "" "" "" "" "PTEN mutation, RASopathy" "" "0000355018" "05517" "00469873" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., height 76cm (SD−6), OFC 47cm (SD−2.4); wrist widening; no pectus carinatum; pigeon chest; harisson sulcus; rachitic rosary; pot belly; double malleoli; genu varum; no genu valgum; osteopenia; delayed carpal bone ossification; small epiphyses; frayed and/or irregular metaphyses; bowing lower limbs; bowing upper limbs; carious teeth, sparse eyebrows, joint laxity, lumbar kyphosis" "" "" "leg deformity, wrist widening" "" "" "" "" "" "VDDR2A" "leg deformity, wrist widening" "" "0000361999" "06886" "00477389" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362000" "06886" "00477390" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362001" "06886" "00477391" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362002" "06886" "00477392" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362003" "06886" "00477393" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000362004" "06886" "00477394" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000181690" "00180753" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000291872" "00290704" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291873" "00290705" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291874" "00290706" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305485" "00304356" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000391961" "00390720" "1" "00006" "00006" "2021-11-11 17:06:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471541" "00469873" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000479036" "00477389" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479037" "00477390" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479038" "00477391" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479039" "00477392" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479040" "00477393" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479041" "00477394" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000181690" "VDR" ## 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 = 58 "{{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}}" "0000005137" "3" "50" "12" "48283756" "48283756" "subst" "0" "00037" "VDR_000008" "g.48283756G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47889973G>T" "" "VUS" "" "0000005138" "3" "50" "12" "48284126" "48284126" "subst" "0" "00037" "VDR_000003" "g.48284126G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890343G>A" "" "VUS" "" "0000005139" "3" "50" "12" "48284148" "48284148" "subst" "0" "00037" "VDR_000005" "g.48284148G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890365G>A" "" "VUS" "" "0000005140" "0" "50" "12" "48284265" "48284265" "subst" "0" "00037" "VDR_000007" "g.48284265G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890482G>A" "" "VUS" "" "0000005141" "0" "50" "12" "48284272" "48284272" "subst" "0" "00037" "VDR_000001" "g.48284272G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890489G>T" "" "VUS" "" "0000013077" "3" "50" "12" "48283756" "48283756" "subst" "0" "00037" "VDR_000008" "g.48283756G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47889973G>T" "" "VUS" "" "0000013078" "0" "50" "12" "48284126" "48284126" "subst" "0" "00037" "VDR_000003" "g.48284126G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890343G>A" "" "VUS" "" "0000013079" "0" "50" "12" "48284148" "48284148" "subst" "0" "00037" "VDR_000005" "g.48284148G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890365G>A" "" "VUS" "" "0000013080" "3" "50" "12" "48284272" "48284272" "subst" "0" "00037" "VDR_000001" "g.48284272G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.47890489G>T" "" "VUS" "" "0000248657" "0" "10" "12" "48238757" "48238757" "subst" "0.328363" "02325" "VDR_000009" "g.48238757A>G" "" "" "" "VDR(NM_001017536.2):c.1206T>C (p.I402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47844974A>G" "" "benign" "" "0000248841" "0" "10" "12" "48272895" "48272895" "subst" "0.629498" "02325" "VDR_000011" "g.48272895A>G" "" "" "" "VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47879112A>G" "" "benign" "" "0000312993" "0" "30" "12" "48240209" "48240209" "subst" "0.00319613" "02325" "VDR_000010" "g.48240209C>T" "" "" "" "VDR(NM_001017536.2):c.1083G>A (p.E361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47846426C>T" "" "likely benign" "" "0000340176" "0" "10" "12" "48238757" "48238757" "subst" "0.328363" "02327" "VDR_000009" "g.48238757A>G" "" "" "" "VDR(NM_001017536.2):c.1206T>C (p.I402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47844974A>G" "" "benign" "" "0000343313" "0" "90" "12" "48258890" "48258890" "subst" "4.06161E-6" "02327" "VDR_000012" "g.48258890G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47865107G>A" "" "pathogenic" "" "0000347577" "0" "70" "12" "48272764" "48272764" "subst" "0" "02327" "VDR_000013" "g.48272764T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47878981T>C" "" "likely pathogenic" "" "0000347702" "0" "10" "12" "48272895" "48272895" "subst" "0.629498" "02327" "VDR_000011" "g.48272895A>G" "" "" "" "VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47879112A>G" "" "benign" "" "0000405386" "0" "50" "12" "48272895" "48272895" "subst" "0.629498" "02555" "VDR_000011" "g.48272895A>G" "140/312 cases" "{PMID:Zakraoui 2012:21820934}" "" "" "{DB:Uveo2778?snp=rs10735810%20&t=1535613943}" "Germline" "" "rs10735810" "0" "" "" "g.47879112A>G" "" "VUS" "" "0000548155" "0" "30" "12" "48249571" "48249571" "subst" "2.03065E-5" "01943" "VDR_000014" "g.48249571C>T" "" "" "" "VDR(NM_001017536.1):c.747G>A (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47855788C>T" "" "likely benign" "" "0000622890" "0" "30" "12" "48238704" "48238704" "subst" "3.65533E-5" "01943" "VDR_000015" "g.48238704C>T" "" "" "" "VDR(NM_001017536.1):c.1259G>A (p.R420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47844921C>T" "" "likely benign" "" "0000622891" "0" "50" "12" "48249485" "48249485" "subst" "0" "02325" "VDR_000016" "g.48249485G>T" "" "" "" "VDR(NM_001017536.2):c.833C>A (p.P278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47855702G>T" "" "VUS" "" "0000648561" "1" "50" "12" "48237109" "48237109" "subst" "0" "03575" "VDR_000017" "g.48237109A>G" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs56382517}" "Germline" "" "rs56382517" "0" "" "" "g.47843326A>G" "" "VUS" "" "0000648562" "1" "30" "12" "48237303" "48237303" "subst" "0" "03575" "VDR_000018" "g.48237303A>G" "89/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "89 heterozygous; {DB:CLININrs11574129}" "Germline" "" "rs11574129" "0" "" "" "g.47843520A>G" "" "likely benign" "" "0000648563" "1" "90" "12" "48258868" "48258868" "subst" "0" "03575" "VDR_000019" "g.48258868C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909793}" "Germline" "" "rs121909793" "0" "" "" "g.47865085C>T" "" "pathogenic" "" "0000669173" "3" "30" "12" "48237303" "48237303" "subst" "0" "03575" "VDR_000018" "g.48237303A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs11574129}" "Germline" "" "rs11574129" "0" "" "" "g.47843520A>G" "" "likely benign" "" "0000724037" "0" "30" "12" "48240233" "48240233" "subst" "0.00202243" "02326" "VDR_000020" "g.48240233G>A" "" "" "" "VDR(NM_001017535.1):c.909C>T (p.A303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805719" "0" "10" "12" "48293605" "48293605" "subst" "0" "02327" "VDR_000021" "g.48293605C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805720" "0" "10" "12" "48293716" "48293716" "subst" "0" "02327" "VDR_000022" "g.48293716G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000822036" "1" "30" "12" "48238711" "48238711" "subst" "0.000162455" "00006" "VDR_000023" "g.48238711G>A" "" "{PMID:Gazdagh 2019:29698805}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000822037" "2" "10" "12" "48272629" "48272629" "subst" "0" "00006" "VDR_000024" "g.48272629G>A" "" "{PMID:Gazdagh 2019:29698805}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000890563" "0" "10" "12" "48272895" "48272895" "subst" "0.629498" "02326" "VDR_000011" "g.48272895A>G" "" "" "" "VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913844" "0" "10" "12" "48238837" "48238837" "subst" "0.512163" "02326" "VDR_000025" "g.48238837C>A" "" "" "" "VDR(NM_000376.3):c.1025-49G>T, VDR(NM_001017535.1):c.1025-49G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949945" "0" "50" "12" "48258958" "48258958" "subst" "0" "01804" "VDR_000026" "g.48258958C>T" "" "" "" "VDR(NM_000376.2):c.149G>A (p.(Arg50Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966914" "0" "30" "12" "48238740" "48238740" "subst" "0.000292604" "02326" "VDR_000027" "g.48238740C>T" "" "" "" "VDR(NM_001017535.1):c.1073G>A (p.R358H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980262" "0" "50" "12" "48238711" "48238711" "subst" "0.000162455" "01804" "VDR_000023" "g.48238711G>A" "" "" "" "VDR(NM_000376.3):c.1102C>T (p.(Arg368Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980263" "0" "10" "12" "48238837" "48238837" "subst" "0.512163" "01804" "VDR_000025" "g.48238837C>A" "" "" "" "VDR(NM_000376.3):c.1025-49G>T, VDR(NM_001017535.1):c.1025-49G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980264" "0" "50" "12" "48249536" "48249536" "subst" "1.21823E-5" "01804" "VDR_000028" "g.48249536T>C" "" "" "" "VDR(NM_000376.3):c.632A>G (p.(Asp211Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980265" "0" "30" "12" "48272742" "48272742" "dup" "0" "01804" "VDR_000029" "g.48272742dup" "" "" "" "VDR(NM_000376.3):c.146+9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980266" "0" "30" "12" "48272743" "48272743" "subst" "0.0445528" "01804" "VDR_000030" "g.48272743G>A" "" "" "" "VDR(NM_000376.3):c.146+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000035" "0" "50" "12" "48238692" "48238692" "subst" "3.24918E-5" "01804" "VDR_000031" "g.48238692G>A" "" "" "" "VDR(NM_000376.2):c.1121C>T (p.(Pro374Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000036" "0" "50" "12" "48240457" "48240457" "subst" "8.1215E-6" "01804" "VDR_000032" "g.48240457A>G" "" "" "" "VDR(NM_000376.2):c.890T>C (p.(Val297Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000037" "0" "30" "12" "48272808" "48272808" "subst" "4.87325E-5" "01804" "VDR_000033" "g.48272808C>T" "" "" "" "VDR(NM_000376.2):c.89G>A (p.(Arg30Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000038" "0" "50" "12" "48272811" "48272811" "subst" "0" "01804" "VDR_000034" "g.48272811T>C" "" "" "" "VDR(NM_000376.2):c.86A>G (p.(Asp29Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039237" "0" "50" "12" "48240126" "48240126" "subst" "0.000281808" "01804" "VDR_000035" "g.48240126A>G" "" "" "" "VDR(NM_000376.3):c.1016T>C (p.(Val339Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039238" "0" "50" "12" "48272779" "48272779" "subst" "4.06072E-6" "01804" "VDR_000036" "g.48272779T>C" "" "" "" "VDR(NM_000376.3):c.118A>G (p.(Thr40Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039239" "0" "10" "12" "48272895" "48272895" "subst" "0.629498" "01804" "VDR_000011" "g.48272895A>G" "" "" "" "VDR(NM_000376.3):c.2T>C (p.(Met1?)), VDR(NM_001017535.1):c.2T>C (p.M1?), VDR(NM_001017535.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039240" "0" "50" "12" "48298558" "48298558" "subst" "0" "01804" "VDR_000037" "g.48298558C>A" "" "" "" "VDR(NM_001017536.2):c.-145G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045008" "0" "70" "12" "48238612" "48238612" "subst" "0" "03779" "VDR_000038" "g.48238612A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001054285" "0" "50" "12" "48249526" "48249526" "subst" "0" "01804" "VDR_000039" "g.48249526G>C" "" "" "" "VDR(NM_000376.3):c.642C>G (p.(Asp214Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054286" "0" "30" "12" "48272745" "48272745" "subst" "0" "01804" "VDR_000040" "g.48272745G>A" "" "" "" "VDR(NM_000376.3):c.146+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054287" "0" "10" "12" "48299826" "48299826" "subst" "0" "01804" "VDR_000041" "g.48299826T>C" "" "" "" "VDR(NM_000376.3):c.-1172A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001059689" "3" "90" "12" "48238642" "48238642" "subst" "0" "00006" "VDR_000042" "g.48238642G>A" "" "{PMID:Jacob 2023:36692815}, {PMID:Jacob 2025:39706863}" "" "" "ACMG PS3, PM1, PM5, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.47844859G>A" "SCV002054009.1" "pathogenic (recessive)" "" "0001068403" "0" "50" "12" "48272894" "48272895" "inv" "0" "03779" "VDR_000043" "g.48272894_48272895inv" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001074897" "0" "50" "12" "48238768" "48238768" "subst" "2.03845E-5" "00006" "VDR_000044" "g.48238768C>T" "2/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47844985C>T" "" "VUS" "" "0001074898" "0" "50" "12" "48258850" "48258850" "subst" "0" "00006" "VDR_000047" "g.48258850T>C" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47865067T>C" "" "VUS" "" "0001074899" "0" "50" "12" "48251387" "48251387" "subst" "0.00022355" "00006" "VDR_000046" "g.48251387C>T" "4/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47857604C>T" "" "VUS" "" "0001074900" "0" "50" "12" "48251032" "48251032" "subst" "4.06398E-6" "00006" "VDR_000045" "g.48251032G>T" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47857249G>T" "" "VUS" "" "0001074901" "0" "50" "12" "48272811" "48272811" "subst" "0" "00006" "VDR_000034" "g.48272811T>C" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47879028T>C" "" "VUS" "" "0001074902" "0" "50" "12" "48272808" "48272808" "subst" "4.87325E-5" "00006" "VDR_000033" "g.48272808C>T" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.47879025C>T" "" "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 VDR ## Count = 58 "{{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}}" "0000005137" "00000466" "50" "-83" "-7199" "-83" "-7199" "c.-83-7199C>A" "r.(=)" "p.(=)" "" "0000005138" "00000466" "50" "-83" "-7569" "-83" "-7569" "c.-83-7569C>T" "r.(=)" "p.(=)" "" "0000005139" "00000466" "50" "-83" "-7591" "-83" "-7591" "c.-83-7591C>T" "r.(=)" "p.(=)" "" "0000005140" "00000466" "50" "-83" "-7708" "-83" "-7708" "c.-83-7708C>T" "r.(=)" "p.(=)" "" "0000005141" "00000466" "50" "-83" "-7715" "-83" "-7715" "c.-83-7715C>A" "r.(=)" "p.(=)" "" "0000013077" "00000466" "50" "-83" "-7199" "-83" "-7199" "c.-83-7199C>A" "r.(=)" "p.(=)" "" "0000013078" "00000466" "50" "-83" "-7569" "-83" "-7569" "c.-83-7569C>T" "r.(=)" "p.(=)" "" "0000013079" "00000466" "50" "-83" "-7591" "-83" "-7591" "c.-83-7591C>T" "r.(=)" "p.(=)" "" "0000013080" "00000466" "50" "-83" "-7715" "-83" "-7715" "c.-83-7715C>A" "r.(=)" "p.(=)" "" "0000248657" "00000466" "10" "1056" "0" "1056" "0" "c.1056T>C" "r.(?)" "p.(Ile352=)" "" "0000248841" "00000466" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000312993" "00000466" "30" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Glu311=)" "" "0000340176" "00000466" "10" "1056" "0" "1056" "0" "c.1056T>C" "r.(?)" "p.(Ile352=)" "" "0000343313" "00000466" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Arg73Ter)" "" "0000347577" "00000466" "70" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Lys45Glu)" "" "0000347702" "00000466" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000405386" "00000466" "00" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000548155" "00000466" "30" "597" "0" "597" "0" "c.597G>A" "r.(?)" "p.(Ser199=)" "" "0000622890" "00000466" "30" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Arg370His)" "" "0000622891" "00000466" "50" "683" "0" "683" "0" "c.683C>A" "r.(?)" "p.(Pro228His)" "" "0000648561" "00000466" "50" "2704" "0" "2704" "0" "c.*1420T>C" "r.(=)" "p.(=)" "" "0000648562" "00000466" "30" "2510" "0" "2510" "0" "c.*1226T>C" "r.(=)" "p.(=)" "" "0000648563" "00000466" "90" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000669173" "00000466" "30" "2510" "0" "2510" "0" "c.*1226T>C" "r.(=)" "p.(=)" "" "0000724037" "00000466" "30" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ala303=)" "" "0000805719" "00000466" "10" "-84" "5133" "-84" "5133" "c.-84+5133G>C" "r.(=)" "p.(=)" "" "0000805720" "00000466" "10" "-84" "5022" "-84" "5022" "c.-84+5022C>A" "r.(=)" "p.(=)" "" "0000822036" "00000466" "30" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000822037" "00000466" "10" "146" "122" "146" "122" "c.146+122C>T" "r.(?)" "p.(=)" "" "0000890563" "00000466" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000913844" "00000466" "10" "1025" "-49" "1025" "-49" "c.1025-49G>T" "r.(=)" "p.(=)" "" "0000949945" "00000466" "50" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Arg50Gln)" "" "0000966914" "00000466" "30" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "0000980262" "00000466" "50" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Cys)" "" "0000980263" "00000466" "10" "1025" "-49" "1025" "-49" "c.1025-49G>T" "r.(=)" "p.(=)" "" "0000980264" "00000466" "50" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Asp211Gly)" "" "0000980265" "00000466" "30" "146" "9" "146" "9" "c.146+9dup" "r.(=)" "p.(=)" "" "0000980266" "00000466" "30" "146" "8" "146" "8" "c.146+8C>T" "r.(=)" "p.(=)" "" "0001000035" "00000466" "50" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Pro374Leu)" "" "0001000036" "00000466" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Val297Ala)" "" "0001000037" "00000466" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Gln)" "" "0001000038" "00000466" "50" "86" "0" "86" "0" "c.86A>G" "r.(?)" "p.(Asp29Gly)" "" "0001039237" "00000466" "50" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Val339Ala)" "" "0001039238" "00000466" "50" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Thr40Ala)" "" "0001039239" "00000466" "10" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0001039240" "00000466" "50" "-84" "180" "-84" "180" "c.-84+180G>T" "r.(=)" "p.(=)" "" "0001045008" "00000466" "70" "1201" "0" "1201" "0" "c.1201T>C" "r.(?)" "p.(Tyr401His)" "" "0001054285" "00000466" "50" "642" "0" "642" "0" "c.642C>G" "r.(?)" "p.(Asp214Glu)" "" "0001054286" "00000466" "30" "146" "6" "146" "6" "c.146+6C>T" "r.(=)" "p.(=)" "" "0001054287" "00000466" "10" "-1172" "0" "-1172" "0" "c.-1172A>G" "r.(?)" "p.(=)" "" "0001059689" "00000466" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "11" "0001068403" "00000466" "50" "2" "0" "3" "0" "c.2_3inv" "r.(?)" "p.(Met1?)" "" "0001074897" "00000466" "50" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0001074898" "00000466" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Asp86Gly)" "" "0001074899" "00000466" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0001074900" "00000466" "50" "463" "0" "463" "0" "c.463C>A" "r.(?)" "p.(Pro155Thr)" "" "0001074901" "00000466" "50" "86" "0" "86" "0" "c.86A>G" "r.(?)" "p.(Asp29Gly)" "" "0001074902" "00000466" "50" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005137" "0000000209" "0000005138" "0000000209" "0000005139" "0000000209" "0000005140" "0000000209" "0000005141" "0000000210" "0000013077" "0000000210" "0000013078" "0000000210" "0000013079" "0000000210" "0000013080" "0000181690" "0000405386" "0000291872" "0000648561" "0000291873" "0000648562" "0000291874" "0000648563" "0000305485" "0000669173" "0000391961" "0000822036" "0000391961" "0000822037" "0000471541" "0001059689" "0000479036" "0001074897" "0000479037" "0001074898" "0000479038" "0001074899" "0000479039" "0001074900" "0000479040" "0001074901" "0000479041" "0001074902"