### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF10) # 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}}" "FGF10" "fibroblast growth factor 10" "5" "p13-p12" "unknown" "NG_011446.1" "UD_132085271785" "" "https://www.LOVD.nl/FGF10" "" "1" "3666" "2255" "602115" "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/FGF10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-02-22 10:23:19" "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}}" "00007915" "FGF10" "fibroblast growth factor 10" "001" "NM_004465.1" "" "NP_004456.1" "" "" "" "1" "627" "627" "44388784" "44305097" "" "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}}" "00599" "LADD" "lacrimoauriculodentodigital syndrome" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-31 10:17:32" "00904" "ALSG" "aplasia of lacrimal and salivary glands (ALSG)" "AD" "180920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-02-22 10:25:31" "07090" "LADD3" "lacrimoauriculodentodigital syndrome, type 3" "AD" "620193" "" "" "" "00006" "2024-05-31 10:15:09" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FGF10" "00599" "FGF10" "00904" "FGF10" "07090" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00332558" "" "" "" "12" "" "00006" "{PMID:Entesarian 2005:15654336}" "4-generation family, 12 affected (6F, 6M)" "F;M" "no" "Sweden" "" "0" "" "" "" "Fam1" "00332559" "" "" "" "4" "" "00006" "{PMID:Entesarian 2005:15654336}" "3-generation family, 4 qffected (2F, 2M)" "F;M" "" "Sweden" "" "0" "" "" "" "Fam2" "00332565" "" "" "" "10" "" "00006" "{PMID:Rohmann 2006:16501574}" "3-generation family, 10 affected (5F, 5M)" "F;M" "" "Germany" "" "0" "" "" "Turkey" "LADD-BoPatIII4" "00332567" "" "" "" "1" "" "00006" "{PMID:Milunksy 2006:16630169}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "patient" "00332568" "" "" "" "2" "" "00006" "{PMID:Milunksy 2006:16630169}" "2-generation family, affected, mother/daughter" "F" "no" "United States" "" "0" "" "" "" "Fam2" "00332569" "" "" "" "2" "" "00006" "{PMID:Entesarian 2007:17213838}" "2-generation family, affected fahter/son" "M" "" "" "" "0" "" "" "white" "Fam1" "00332570" "" "" "" "1" "" "00006" "{PMID:Entesarian 2007:17213838}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Fam2" "00450521" "" "" "" "1" "" "04614" "" "" "M" "no" "Spain" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00332558" "00904" "00332559" "00904" "00332565" "00599" "00332567" "00599" "00332568" "00904" "00332569" "00904" "00332570" "00904" "00450521" "00599" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00599, 00904, 07090 ## Count = 8 "{{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}}" "0000250746" "00904" "00332558" "00006" "Familial, autosomal dominant" "" "see paper; ..., irritable eyes, dryness mouth" "" "" "" "" "" "" "" "" "" "0000250747" "00904" "00332559" "00006" "Familial, autosomal dominant" "" "see paper; ..., irritable eyes, dryness mouth" "" "" "" "" "" "" "" "" "" "0000250753" "00599" "00332565" "00006" "Familial, autosomal dominant" "" "no alacrima, no aplastic or hypoplastic ducts, puncta, no aplastic or hypoplastic gland, no conjunctivitis; no cup-shaped ear, no small ears, no hearing loss; no peg-shaped teeth, no microdontia, no hypodontia, no root anomalies, no dental caries; no bifid thumb, no triphalangeal thumb, no digitalized thumb, no hypoplastic thumb, no missing thumb, no short radius and ulna, no first toe abnormalities, no syndactyly in fingers/toes; no salivary gland anomalies, no facial dysmorphism" "" "" "" "" "" "" "" "LADD" "LADD syndrome" "0000250755" "00599" "00332567" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "LADD" "LADD syndrome" "0000250756" "00904" "00332568" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "ALSG" "aplasia of lacrimal and salivary glands" "0000250757" "00904" "00332569" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "ALSG" "aplasia of lacrimal and salivary glands" "0000250758" "00904" "00332570" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "ALSG" "aplasia of lacrimal and salivary glands" "0000339576" "00599" "00450521" "04614" "Familial, autosomal dominant" "00y" "esophageal atresia, dextrocardia, hypoplasia of the phalanges of the thumb, lacrimal gland aplasia, xerostomía, pulmonar hipoplasia, scoliosis, madelung deformity, dental caries, generalized periodontitis" "00y00m00d" "22y" "Congenital onset" "" "" "" "" "LADD syndrome 3 and esophageal atresia" "VACTERL association" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000333782" "00332558" "1" "00006" "00006" "2021-02-22 14:43:46" "" "" "PCR;SEQ" "DNA" "" "" "0000333783" "00332559" "1" "00006" "00006" "2021-02-22 14:52:41" "" "" "SEQ" "DNA" "" "" "0000333789" "00332565" "1" "00006" "00006" "2021-02-22 18:25:41" "" "" "SEQ" "DNA" "" "" "0000333791" "00332567" "1" "00006" "00006" "2021-02-22 18:31:11" "" "" "SEQ" "DNA" "" "" "0000333792" "00332568" "1" "00006" "00006" "2021-02-22 18:34:36" "" "" "SEQ" "DNA" "" "" "0000333793" "00332569" "1" "00006" "00006" "2021-02-22 18:40:09" "" "" "SEQ" "DNA" "" "" "0000333794" "00332570" "1" "00006" "00006" "2021-02-22 18:43:21" "" "" "SEQ" "DNA" "" "" "0000452119" "00450521" "1" "04614" "04614" "2024-05-30 10:12:59" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000333782" "FGF10" "0000333783" "FGF10" "0000333789" "FGF10" "0000333791" "FGF10" "0000333792" "FGF10" "0000333793" "FGF10" "0000333794" "FGF10" ## 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 = 14 "{{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}}" "0000525784" "0" "90" "5" "44305227" "44305227" "subst" "0" "01943" "FGF10_000001" "g.44305227G>T" "" "" "" "FGF10(NM_004465.1):c.497C>A (p.S166*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44305125G>T" "" "pathogenic" "" "0000731589" "1" "90" "5" "44304131" "44357419" "del" "0" "00006" "FGF10_000002" "g.44304131_44357419del" "" "{PMID:Entesarian 2005:15654336}" "" "del ex2-3" "53kb deletion" "Germline" "yes" "" "0" "" "" "g.44304029_44357317del" "" "pathogenic (dominant)" "" "0000731590" "1" "90" "5" "44305147" "44305147" "subst" "0" "00006" "FGF10_000003" "g.44305147G>A" "" "{PMID:Entesarian 2005:15654336}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44305045G>A" "" "pathogenic (dominant)" "" "0000731596" "1" "90" "5" "44388468" "44388468" "subst" "0" "00006" "FGF10_000009" "g.44388468C>A" "" "{PMID:Rohmann 2006:16501574}" "" "" "" "Germline" "" "" "0" "" "" "g.44388366C>A" "" "pathogenic (dominant)" "" "0000731598" "0" "90" "5" "44305257" "44305257" "subst" "0" "00006" "FGF10_000004" "g.44305257A>C" "" "{PMID:Milunksy 2006:16630169}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731599" "21" "90" "5" "44310549" "44310549" "subst" "0" "00006" "FGF10_000005" "g.44310549T>A" "" "{PMID:Milunksy 2006:16630169}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731600" "11" "90" "5" "44388545" "44388545" "subst" "0" "00006" "FGF10_000006" "g.44388545T>G" "" "{PMID:Entesarian 2007:17213838}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000731601" "21" "50" "5" "44305104" "44305104" "subst" "0.00164983" "00006" "FGF10_000007" "g.44305104T>G" "" "{PMID:Entesarian 2007:17213838}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000731602" "0" "90" "5" "44310545" "44310545" "subst" "0" "00006" "FGF10_000008" "g.44310545C>T" "" "{PMID:Entesarian 2007:17213838}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000802122" "0" "70" "5" "44388730" "44388730" "del" "0" "01943" "FGF10_000010" "g.44388730del" "" "" "" "FGF10(NM_004465.1):c.55delT (p.C19Afs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850925" "0" "50" "5" "44388553" "44388553" "subst" "0" "01943" "FGF10_000011" "g.44388553G>T" "" "" "" "FGF10(NM_004465.1):c.232C>A (p.R78S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948560" "0" "30" "5" "44305171" "44305171" "subst" "0" "01804" "FGF10_000012" "g.44305171C>T" "" "" "" "FGF10(NM_004465.1):c.553G>A (p.(Ala185Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986102" "11" "90" "5" "44388783" "44388783" "subst" "0" "04614" "FGF10_000013" "g.44388783A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.44388681A>G" "" "pathogenic (dominant)" "ACMG" "0000995072" "0" "50" "5" "44388630" "44388630" "subst" "1.62505E-5" "01804" "FGF10_000014" "g.44388630G>C" "" "" "" "FGF10(NM_004465.1):c.155C>G (p.(Ser52Cys))" "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 FGF10 ## Count = 14 "{{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}}" "0000525784" "00007915" "90" "497" "0" "497" "0" "c.497C>A" "r.(?)" "p.(Ser166Ter)" "" "0000731589" "00007915" "90" "325" "31041" "1593" "0" "c.325+31041_*966del" "r.?" "p.?" "1i_3_" "0000731590" "00007915" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "" "0000731596" "00007915" "90" "317" "0" "317" "0" "c.317G>T" "r.(?)" "p.(Cys106Phe)" "" "0000731598" "00007915" "90" "467" "0" "467" "0" "c.467T>G" "r.(?)" "p.(Ile156Arg)" "" "0000731599" "00007915" "90" "409" "0" "409" "0" "c.409A>T" "r.(?)" "p.(Lys137*)" "" "0000731600" "00007915" "90" "240" "0" "240" "0" "c.240A>C" "r.(?)" "p.(Arg80Ser)" "" "0000731601" "00007915" "50" "620" "0" "620" "0" "c.620A>C" "r.(?)" "p.(His207Pro)" "" "0000731602" "00007915" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Gly138Glu)" "" "0000802122" "00007915" "70" "55" "0" "55" "0" "c.55del" "r.(?)" "p.(Cys19Alafs*95)" "" "0000850925" "00007915" "50" "232" "0" "232" "0" "c.232C>A" "r.(?)" "p.(Arg78Ser)" "" "0000948560" "00007915" "30" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Ala185Thr)" "" "0000986102" "00007915" "90" "2" "0" "2" "0" "c.2T>C" "r.?" "p.Met1?" "" "0000995072" "00007915" "50" "155" "0" "155" "0" "c.155C>G" "r.(?)" "p.(Ser52Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000333782" "0000731589" "0000333783" "0000731590" "0000333789" "0000731596" "0000333791" "0000731598" "0000333792" "0000731599" "0000333793" "0000731600" "0000333793" "0000731601" "0000333794" "0000731602" "0000452119" "0000986102"