### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF23) # 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}}" "FGF23" "fibroblast growth factor 23" "12" "p13" "unknown" "NG_007087.1" "UD_132118679035" "" "https://www.LOVD.nl/FGF23" "" "1" "3680" "8074" "605380" "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/FGF23_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-29 12:51:42" "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}}" "00007929" "FGF23" "fibroblast growth factor 23" "001" "NM_020638.2" "" "NP_065689.1" "" "" "" "-146" "2872" "756" "4488894" "4477393" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01599" "ADHR" "rickets, hypophosphatemic, autosomal dominant (ADHR)" "AD" "193100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02241" "XLHRD" "rickets, hypophosphatemic, X-linked dominant" "XLD" "307800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-04-27 08:40:42" "04472" "HFTC" "calcinosis, tumoral, hyperphosphatemic, familial (HFTC)" "AR" "211900" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06183" "HFTC2" "Tumoral calcinosis, hyperphosphatemic, familial, 2" "" "617993" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "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 = 4 "{{geneid}}" "{{diseaseid}}" "FGF23" "01599" "FGF23" "04472" "FGF23" "06183" "FGF23" "06886" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00393401" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam32" "00393406" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam34" "00393410" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam22" "00393414" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam39" "00393421" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam47" "00393422" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam13" "00393425" "" "" "" "1" "" "00006" "{PMID:Ruppe 2011:21050253}" "" "" "" "United States" "" "0" "" "" "" "Fam2" "00396999" "" "" "" "1" "" "00006" "{PMID:Guven 2017:28383812}" "daughter" "F" "" "Turkey" "" "0" "" "" "" "FamVIPat3" "00397280" "" "" "" "2" "" "00006" "{PMID:Obara-Moszynska 2020:33295632}" "2-generation family, affeced father/daughter" "F" "" "Poland" "" "0" "" "" "" "Pat1" "00397501" "" "" "" "1" "" "00006" "{PMID:Jorgensen 2019:31903094}" "" "F" "" "Denmark" "" "0" "" "" "" "Pat7" "00401548" "" "" "" "1" "" "00006" "{PMID:McKenna 2019:30238432}" "" "M" "" "Ireland" "" "0" "" "" "" "Pat24" "00401549" "" "" "" "1" "" "00006" "{PMID:McKenna 2019:30238432}" "" "F" "" "Ireland" "" "0" "" "" "" "Pat25" "00469869" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "India" "" "0" "" "" "" "" "00477358" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477359" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477360" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477361" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477362" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477363" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477364" "" "" "" "1" "" "00006" "{PMID:Rush 2022:34633109}" "analysis 312 PHEX-negative hypophosphatemia cases" "" "" "United States" "" "0" "" "" "" "" "00477365" "" "" "" "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 = 21 "{{individualid}}" "{{diseaseid}}" "00393401" "02241" "00393406" "02241" "00393410" "02241" "00393414" "02241" "00393421" "01599" "00393422" "00198" "00393425" "00198" "00396999" "02241" "00397280" "06886" "00397501" "06886" "00401548" "06886" "00401549" "06886" "00469869" "05517" "00477358" "06886" "00477359" "06886" "00477360" "06886" "00477361" "06886" "00477362" "06886" "00477363" "06886" "00477364" "06886" "00477365" "06886" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01599, 02241, 04472, 05517, 06183, 06886 ## Count = 15 "{{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}}" "0000286635" "01599" "00393421" "00006" "Isolated (sporadic)" "" "1y-lower extremity bowing" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemic rickets" "" "0000290154" "02241" "00396999" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..., bowed legs" "" "" "" "" "" "" "" "" "" "hypophosphatemic rickets" "" "0000290433" "06886" "00397280" "00006" "Familial, X-linked dominant" "9y7m" "bowing lower limbs, short stature; no ear problems; no dental problems" "" "2y3m" "" "" "" "" "" "" "XLHR" "hypophosphatemic rickets" "" "0000290633" "06886" "00397501" "00006" "Familial, autosomal dominant" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "ADHR" "" "" "0000294340" "06886" "00401548" "00006" "Familial, autosomal dominant" "18y" "see paper; ..., height 173cm, BMI 44kg/m" "" "" "" "" "" "" "" "" "ADHR" "hypophosphataemia" "" "0000294341" "06886" "00401549" "00006" "Familial, autosomal dominant" "32y" "see paper; ..., height 158cm, BMI 21.2 kg/m" "" "" "" "" "" "" "" "" "ADHR" "hypophosphataemia" "" "0000355014" "05517" "00469869" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "ADHR" "skeletal dysplasia" "" "0000361968" "06886" "00477358" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000361969" "06886" "00477359" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemia" "" "0000361970" "06886" "00477360" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemia" "" "0000361971" "06886" "00477361" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemia" "" "0000361972" "06886" "00477362" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "ADHR" "hypophosphatemia" "" "0000361973" "06886" "00477363" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000361974" "06886" "00477364" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" "0000361975" "06886" "00477365" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "hypophosphatemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000394649" "00393401" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394654" "00393406" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394658" "00393410" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394662" "00393414" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394669" "00393421" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394670" "00393422" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000394673" "00393425" "1" "00006" "00006" "2021-11-29 14:31:19" "" "" "SEQ" "DNA" "" "analysis PHEX, FGF23, DMP1" "0000398240" "00396999" "1" "00006" "00006" "2021-12-18 16:55:52" "" "" "SEQ" "DNA" "" "" "0000398520" "00397280" "1" "00006" "00006" "2021-12-20 11:46:08" "" "" "SEQ" "DNA" "" "" "0000398741" "00397501" "1" "00006" "00006" "2021-12-22 15:06:37" "" "" "SEQ" "DNA" "" "" "0000402791" "00401548" "1" "00006" "00006" "2022-01-31 17:18:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000402792" "00401549" "1" "00006" "00006" "2022-01-31 17:18:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000471537" "00469869" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000479005" "00477358" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479006" "00477359" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479007" "00477360" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479008" "00477361" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479009" "00477362" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479010" "00477363" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479011" "00477364" "1" "00006" "00006" "2026-04-26 13:40:05" "" "" "SEQ;SEQ-NG" "DNA" "" "13-gene panel" "0000479012" "00477365" "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 = 5 "{{screeningid}}" "{{geneid}}" "0000398240" "FGF23" "0000398520" "PHEX" "0000398741" "FGF23" "0000402791" "FGF23" "0000402792" "FGF23" ## 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 = 33 "{{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}}" "0000249662" "0" "90" "12" "4481788" "4481788" "subst" "0" "02325" "FGF23_000002" "g.4481788A>G" "" "" "" "FGF23(NM_020638.3):c.287T>C (p.M96T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4372622A>G" "" "pathogenic" "" "0000280776" "0" "90" "12" "4479916" "4479917" "del" "0" "02325" "FGF23_000001" "g.4479916_4479917del" "" "" "" "FGF23(NM_020638.3):c.350_351delAC (p.H117Pfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4370750_4370751del" "" "pathogenic" "" "0000283920" "0" "10" "12" "4488384" "4488385" "del" "0" "02326" "FGF23_000003" "g.4488384_4488385del" "" "" "" "FGF23(NM_020638.3):c.211+169_211+170delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4379218_4379219del" "" "benign" "" "0000283921" "0" "10" "12" "4488502" "4488502" "subst" "0.00632064" "02326" "FGF23_000004" "g.4488502G>T" "" "" "" "FGF23(NM_020638.3):c.211+36C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4379336G>T" "" "benign" "" "0000347920" "0" "90" "12" "4481788" "4481788" "subst" "0" "02327" "FGF23_000002" "g.4481788A>G" "" "" "" "FGF23(NM_020638.3):c.287T>C (p.M96T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4372622A>G" "" "pathogenic" "" "0000679526" "0" "10" "12" "4479549" "4479549" "subst" "0.128334" "02327" "FGF23_000005" "g.4479549G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000825621" "0" "90" "12" "4479730" "4479730" "subst" "0" "00006" "FGF23_000006" "g.4479730G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs28937882" "0" "" "" "g.4370564G>A" "" "pathogenic" "" "0000825622" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825625" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825635" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825638" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825639" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000825640" "0" "30" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Ruppe 2011:21050253}" "" "" "" "Germline" "" "rs7955866" "0" "" "" "g.4370383G>A" "" "likely benign" "" "0000830449" "0" "90" "12" "4479739" "4479739" "subst" "0" "00006" "FGF23_000007" "g.4479739G>C" "" "{PMID:Guven 2017:28383812}" "" "" "" "De novo" "" "" "0" "" "" "g.4370573G>C" "" "pathogenic (dominant)" "" "0000830743" "20" "10" "12" "4479549" "4479549" "subst" "0.128334" "00006" "FGF23_000005" "g.4479549G>A" "" "{PMID:Obara-Moszynska 2020:33295632}" "" "C716>T" "" "Germline" "" "rs7955866" "0" "" "" "" "" "benign" "" "0000830971" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "00006" "FGF23_000008" "g.4479729C>T" "" "{PMID:Jorgensen 2019:31903094}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000837024" "0" "90" "12" "4479739" "4479739" "subst" "0" "00006" "FGF23_000007" "g.4479739G>C" "1/374 cases NF" "{PMID:McKenna 2019:30238432}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370573G>C" "" "pathogenic (dominant)" "" "0000837025" "0" "90" "12" "4479730" "4479730" "subst" "0" "00006" "FGF23_000006" "g.4479730G>A" "1/374 cases NF" "{PMID:McKenna 2019:30238432}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370564G>A" "" "pathogenic (dominant)" "" "0000949944" "0" "50" "12" "4488703" "4488703" "subst" "2.46255E-5" "01804" "FGF23_000009" "g.4488703C>T" "" "" "" "FGF23(NM_020638.2):c.46G>A (p.(Val16Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026179" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "02325" "FGF23_000008" "g.4479729C>T" "" "" "" "FGF23(NM_020638.3):c.536G>A (p.R179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039220" "0" "30" "12" "4479660" "4479660" "subst" "6.19681E-5" "01804" "FGF23_000010" "g.4479660G>A" "" "" "" "FGF23(NM_020638.3):c.605C>T (p.(Ala202Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039221" "0" "30" "12" "4481866" "4481866" "subst" "0" "01804" "FGF23_000011" "g.4481866A>T" "" "" "" "FGF23(NM_020638.3):c.212-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039222" "0" "50" "12" "4488692" "4488692" "subst" "8.18009E-6" "01804" "FGF23_000012" "g.4488692C>T" "" "" "" "FGF23(NM_020638.3):c.57G>A (p.(Met19Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054207" "0" "50" "12" "4488661" "4488661" "subst" "7.74814E-5" "01804" "FGF23_000013" "g.4488661G>A" "" "" "" "FGF23(NM_020638.3):c.88C>T (p.(Pro30Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059685" "0" "70" "12" "4479737" "4479751" "del" "0" "00006" "FGF23_000014" "g.4479737_4479751del" "" "{PMID:Jacob 2025:39706863}" "" "" "" "De novo" "" "" "0" "" "" "g.4370571_4370585del" "SUB14119507" "likely pathogenic (dominant)" "" "0001074866" "0" "50" "12" "4488576" "4488576" "subst" "0" "00006" "FGF23_000017" "g.4488576T>C" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4379410T>C" "" "VUS" "" "0001074867" "0" "90" "12" "4479739" "4479739" "subst" "0" "00006" "FGF23_000016" "g.4479739G>A" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370573G>A" "" "pathogenic (dominant)" "" "0001074868" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "00006" "FGF23_000008" "g.4479729C>T" "3/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370563C>T" "" "pathogenic (dominant)" "" "0001074869" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "00006" "FGF23_000008" "g.4479729C>T" "3/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370563C>T" "" "pathogenic (dominant)" "" "0001074870" "0" "90" "12" "4479729" "4479729" "subst" "4.08213E-6" "00006" "FGF23_000008" "g.4479729C>T" "3/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370563C>T" "" "pathogenic (dominant)" "" "0001074871" "0" "50" "12" "4479714" "4479714" "subst" "0.000212561" "00006" "FGF23_000015" "g.4479714T>C" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4370548T>C" "" "VUS" "" "0001074872" "0" "50" "12" "4488685" "4488685" "subst" "2.04335E-5" "00006" "FGF23_000019" "g.4488685G>A" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4379519G>A" "" "VUS" "" "0001074873" "0" "50" "12" "4488676" "4488676" "subst" "1.63216E-5" "00006" "FGF23_000018" "g.4488676A>G" "1/312 cases" "{PMID:Rush 2022:34633109}" "" "" "combination of variants not reported" "Germline/De novo (untested)" "" "" "0" "" "" "g.4379510A>G" "" "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 FGF23 ## Count = 33 "{{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}}" "0000249662" "00007929" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Met96Thr)" "" "0000280776" "00007929" "90" "350" "0" "351" "0" "c.350_351del" "r.(?)" "p.(His117ProfsTer105)" "" "0000283920" "00007929" "10" "211" "169" "211" "170" "c.211+169_211+170del" "r.(=)" "p.(=)" "" "0000283921" "00007929" "10" "211" "36" "211" "36" "c.211+36C>A" "r.(=)" "p.(=)" "" "0000347920" "00007929" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Met96Thr)" "" "0000679526" "00007929" "10" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825621" "00007929" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "3" "0000825622" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825625" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825635" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825638" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825639" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000825640" "00007929" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "" "0000830449" "00007929" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Arg176Gly)" "3" "0000830743" "00007929" "10" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "3" "0000830971" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0000837024" "00007929" "90" "526" "0" "526" "0" "c.526C>G" "r.(?)" "p.(Arg176Gly)" "3" "0000837025" "00007929" "90" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "3" "0000949944" "00007929" "50" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Val16Ile)" "" "0001026179" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0001039220" "00007929" "30" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "" "0001039221" "00007929" "30" "212" "-3" "212" "-3" "c.212-3T>A" "r.spl?" "p.?" "" "0001039222" "00007929" "50" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Met19Ile)" "" "0001054207" "00007929" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Pro30Ser)" "" "0001059685" "00007929" "70" "515" "0" "529" "0" "c.515_529del" "r.(?)" "p.(Pro172_Arg176del)" "" "0001074866" "00007929" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Asn58Ser)" "" "0001074867" "00007929" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "0001074868" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0001074869" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0001074870" "00007929" "90" "536" "0" "536" "0" "c.536G>A" "r.(?)" "p.(Arg179Gln)" "" "0001074871" "00007929" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Asp184Gly)" "" "0001074872" "00007929" "50" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Leu22Phe)" "" "0001074873" "00007929" "50" "73" "0" "73" "0" "c.73T>C" "r.(?)" "p.(Tyr25His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000394649" "0000825635" "0000394654" "0000825638" "0000394658" "0000825639" "0000394662" "0000825640" "0000394669" "0000825621" "0000394670" "0000825622" "0000394673" "0000825625" "0000398240" "0000830449" "0000398520" "0000830743" "0000398741" "0000830971" "0000402791" "0000837024" "0000402792" "0000837025" "0000471537" "0001059685" "0000479005" "0001074866" "0000479006" "0001074867" "0000479007" "0001074868" "0000479008" "0001074869" "0000479009" "0001074870" "0000479010" "0001074871" "0000479011" "0001074872" "0000479012" "0001074873"