### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FGF3) # 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}}" "FGF3" "fibroblast growth factor 3" "11" "q13" "unknown" "NG_009016.1" "UD_132118216789" "" "https://www.LOVD.nl/FGF3" "" "1" "3681" "2248" "164950" "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/FGF3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-09 13:56:05" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00007908" "FGF3" "fibroblast growth factor 3" "001" "NM_005247.2" "" "NP_005238.1" "" "" "" "-491" "1057" "720" "69634192" "69624736" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00959" "-" "dysplasia, otodental, chromsome deletion syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" "02972" "-" "deafness, congenital, inner ear agenesis, microtia, and microdontia (deafness with LAMM)" "AR" "610706" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FGF3" "00959" "FGF3" "02972" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00264074" "" "" "" "5" "" "00006" "{PMID:Tekin 2007:17236138}, {PMID:Tekin 2008:18435799}" "5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "FamA" "00264075" "" "" "" "3" "" "00006" "{PMID:Tekin 2007:17236138}, {PMID:Tekin 2008:18435799}" "4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "" "0" "" "" "" "FamB" "00264076" "" "" "" "1" "" "00006" "{PMID:Tekin 2007:17236138}, {PMID:Tekin 2008:18435799}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/sib" "F" "" "Turkey" "" "0" "" "" "" "FamC" "00264077" "" "" "" "1" "" "00006" "{PMID:Tekin 2008:18435799}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "" "" "Fam1" "00264078" "" "" "" "3" "" "00006" "{PMID:Tekin 2008:18435799}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "Germany" "" "0" "" "" "Turkey" "Fam2PatIV1/2/3" "00264079" "" "" "" "21" "" "00006" "{PMID:Alsmadi 2009:18701883}" "6-generation family, 21 affected (11F, 10M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam" "00264080" "" "" "" "2" "" "00006" "{PMID:Sensi 2011:21480479}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "no" "Italy" "" "0" "" "" "Albania" "FamA" "00264081" "" "" "" "1" "" "00006" "{PMID:Sensi 2011:21480479}" "2-generation family, 1 affected (F), unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "" "FamB" "00264082" "" "" "" "4" "" "00006" "{PMID:Ramsebner 2009:19950373}" "3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents" "F;M" "" "Somalia" "" "0" "" "" "" "Fam" "00264083" "" "" "" "1" "" "00006" "{PMID:Dill 2011:21752681}" "2-generation family, 1 affected (M), unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamPat1" "00264084" "" "" "" "4" "" "00006" "{PMID:Riazuddin 2011:21306635}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF295" "00264085" "" "" "" "8" "" "00006" "{PMID:Riazuddin 2011:21306635}" "5-generation family, 8 affected (3F,5 M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF817" "00264086" "" "" "" "3" "" "00006" "{PMID:Riazuddin 2011:21306635}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "yes" "Pakistan" "" "0" "" "" "" "FamPKDF887" "00284250" "" "" "" "1" "" "00004" "{PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}" "" "" "" "" "" "0" "" "" "" "" "00284251" "" "" "" "1" "" "00004" "{PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}" "" "" "" "" "" "0" "" "" "" "" "00284252" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "" "" "0" "" "" "" "" "00284253" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Riazuddin 2011:21306635}" "" "" "" "" "" "0" "" "" "" "" "00284254" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "" "" "0" "" "" "" "" "00284255" "" "" "" "1" "" "00004" "{PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}, {PMID:Riazuddin 2011:21306635}" "" "" "" "" "" "0" "" "" "" "" "00284256" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Ramsebner 2010:19950373}" "" "" "" "" "" "0" "" "" "" "" "00284257" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Tekin 2008:18435799}" "" "" "" "" "" "0" "" "" "" "" "00284258" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Alsmadi 2009:18701883}" "" "" "" "" "" "0" "" "" "" "" "00284259" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Dill 2011:21752681}" "" "" "" "" "" "0" "" "" "" "" "00284260" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "" "" "0" "" "" "" "" "00284261" "" "" "" "1" "" "00004" "{PMID:Ordonez 1993:22993869}, {PMID:Tekin 2008:18435799}" "" "" "" "" "" "0" "" "" "" "" "00290523" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307903" "" "" "" "6" "" "02404" "{PMID:Doll 2020:33187236}" "two distantly related families with parental consanguinity, segregating in six affected individuals" "-" "yes" "Pakistan" "" "0" "" "" "" "" "00385920" "" "" "" "1" "" "00006" "{PMID:Prasad 2016:26502894}" "" "M" "" "" "" "0" "" "" "" "V2.03" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00264074" "05103" "00264075" "05103" "00264076" "05103" "00264077" "05103" "00264078" "05103" "00264079" "05103" "00264080" "05103" "00264081" "05103" "00264082" "05103" "00264083" "05103" "00264084" "05103" "00264085" "05103" "00264086" "05103" "00284250" "05103" "00284251" "05103" "00284252" "00198" "00284253" "00198" "00284254" "00198" "00284255" "05103" "00284256" "05103" "00284257" "00198" "00284258" "05103" "00284259" "00198" "00284260" "00198" "00284261" "00198" "00290523" "00198" "00307903" "05103" "00385920" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00959, 02972, 05103 ## Count = 27 "{{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}}" "0000201913" "05103" "00264074" "00006" "Familial, autosomal recessive" "" "see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201914" "05103" "00264075" "00006" "Familial, autosomal recessive" "" "see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201915" "05103" "00264076" "00006" "Familial, autosomal recessive" "" "see paper; …, congenital deafness, inner ear agenesis, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201916" "05103" "00264077" "00006" "Familial, autosomal recessive" "" "see paper; …, height 10th–25th centile, type I microtia, anteverted ears" "" "00y02m" "" "" "" "" "" "" "" "deafness" "" "0000201917" "05103" "00264078" "00006" "Familial, autosomal recessive" "" "see paper; …, type I microtia, anteverted ears, single large skin tag at upper helix, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201918" "05103" "00264079" "00006" "Familial, autosomal recessive" "" "see paper; …, syndromic congenital sensorineural deafness, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201919" "05103" "00264080" "00006" "Familial, autosomal recessive" "" "see paper; …, microtia, microdontia, sensori-neural hearing loss" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201920" "05103" "00264081" "00006" "Familial, autosomal recessive" "" "see paper; …, profound bilateral deafness" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201921" "05103" "00264082" "00006" "Familial, autosomal recessive" "" "see paper; …, differential inner ear malformation, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201922" "05103" "00264083" "00006" "Familial, autosomal recessive" "08y" "see paper; …, pyridoxal phosphate-responsive seizures, cerebral folate deficiency, congenital deafness, labyrinthine aplasia, microtia, microdontia" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201923" "05103" "00264084" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201924" "05103" "00264085" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "deafness" "" "0000201925" "05103" "00264086" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "deafness" "" "0000216970" "00198" "00284252" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Labyrinthine aplasia, microtia & microdontia" "" "0000216971" "00198" "00284253" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Labyrinthine aplasia, microtia & microdontia" "" "0000216972" "00198" "00284254" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Labyrinthine aplasia, microtia & microdontia" "" "0000216973" "00198" "00284257" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Michel aplasia, microtia & microdontia" "" "0000216974" "00198" "00284259" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Labyrinthine aplasia, microtia & microdontia" "" "0000216975" "00198" "00284260" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Labyrinthine aplasia, microtia & microdontia" "" "0000216976" "00198" "00284261" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Michel aplasia, microtia & microdontia" "" "0000218535" "05103" "00284250" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, syndromic" "" "0000218536" "05103" "00284251" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, syndromic" "" "0000218537" "05103" "00284255" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, syndromic" "" "0000218538" "05103" "00284256" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, syndromic" "" "0000218539" "05103" "00284258" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, syndromic" "" "0000233326" "05103" "00307903" "02404" "Familial, autosomal recessive" "" "Cupped ears, irregularly spaced teeth, and severe hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000279723" "00198" "00385920" "00006" "Familial, autosomal dominant" "13y" "otodental syndrome" "" "" "" "" "" "" "" "" "" "otodental syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000265195" "00264074" "1" "00006" "00006" "2019-09-09 21:00:23" "" "" "SEQ" "DNA" "" "" "0000265196" "00264075" "1" "00006" "00006" "2019-09-09 21:00:23" "" "" "SEQ" "DNA" "" "" "0000265197" "00264076" "1" "00006" "00006" "2019-09-09 21:00:23" "" "" "SEQ" "DNA" "" "" "0000265198" "00264077" "1" "00006" "00006" "2019-09-09 21:18:24" "" "" "SEQ" "DNA" "" "" "0000265199" "00264078" "1" "00006" "00006" "2019-09-09 21:18:24" "" "" "SEQ" "DNA" "" "" "0000265200" "00264079" "1" "00006" "00006" "2019-09-09 21:18:24" "" "" "SEQ" "DNA" "" "" "0000265201" "00264080" "1" "00006" "00006" "2019-09-09 21:18:24" "" "" "SEQ" "DNA" "" "" "0000265202" "00264081" "1" "00006" "00006" "2019-09-09 21:18:24" "" "" "SEQ" "DNA" "" "" "0000265203" "00264082" "1" "00006" "00006" "2019-09-09 21:48:27" "" "" "SEQ" "DNA" "" "" "0000265204" "00264083" "1" "00006" "00006" "2019-09-09 21:48:27" "" "" "SEQ" "DNA" "" "" "0000265205" "00264084" "1" "00006" "00006" "2019-09-09 21:48:27" "" "" "SEQ" "DNA" "" "" "0000265206" "00264085" "1" "00006" "00006" "2019-09-09 22:07:19" "" "" "SEQ" "DNA" "" "" "0000265207" "00264086" "1" "00006" "00006" "2019-09-09 22:07:19" "" "" "SEQ" "DNA" "" "" "0000285400" "00284250" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285401" "00284251" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285402" "00284252" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285403" "00284253" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285404" "00284254" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285405" "00284255" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285406" "00284256" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285407" "00284257" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285408" "00284258" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285409" "00284259" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285410" "00284260" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285411" "00284261" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291691" "00290523" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309045" "00307903" "1" "02404" "02404" "2020-08-21 17:52:36" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000387148" "00385920" "1" "00006" "00006" "2021-10-18 13:33:16" "" "" "SEQ;SEQ-NG" "DNA" "" "disease gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000265195" "FGF3" "0000265196" "FGF3" "0000265197" "FGF3" "0000265198" "FGF3" "0000265199" "FGF3" "0000265200" "FGF3" "0000265201" "FGF3" "0000265202" "FGF3" "0000265203" "FGF3" "0000265204" "FGF3" "0000265205" "FGF3" "0000265206" "FGF3" "0000265207" "FGF3" "0000285400" "FGF3" "0000285401" "FGF3" "0000285402" "FGF3" "0000285403" "FGF3" "0000285404" "FGF3" "0000285405" "FGF3" "0000285406" "FGF3" "0000285407" "FGF3" "0000285408" "FGF3" "0000285409" "FGF3" "0000285410" "FGF3" "0000285411" "FGF3" "0000387148" "FGF3" ## 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 = 44 "{{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}}" "0000287384" "0" "90" "11" "69625412" "69625428" "del" "0" "01943" "FGF3_000002" "g.69625412_69625428del" "" "" "" "FGF3(NM_005247.3):c.368_384delAGCTGGGCTATAATACG (p.E123Vfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69810644_69810660del" "" "pathogenic" "" "0000287385" "0" "50" "11" "69625389" "69625389" "subst" "7.00713E-5" "01943" "FGF3_000001" "g.69625389C>T" "" "" "" "FGF3(NM_005247.3):c.404G>A (p.R135Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69810621C>T" "" "VUS" "" "0000545577" "0" "10" "11" "69631109" "69631109" "subst" "0.000698432" "01943" "FGF3_000005" "g.69631109C>G" "" "" "" "FGF3(NM_005247.3):c.303G>C (p.K101N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69816341C>G" "" "benign" "" "0000595776" "3" "90" "11" "69625327" "69625327" "subst" "0" "00006" "FGF3_000006" "g.69625327A>G" "" "{PMID:Tekin 2007:17236138}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69810559A>G" "" "pathogenic (recessive)" "" "0000595777" "3" "90" "11" "69631102" "69631102" "subst" "2.03036E-5" "00006" "FGF3_000007" "g.69631102G>A" "" "{PMID:Tekin 2007:17236138}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69816334G>A" "" "pathogenic (recessive)" "" "0000595778" "3" "90" "11" "69625181" "69625181" "del" "0" "00006" "FGF3_000008" "g.69625181del" "" "{PMID:Tekin 2007:17236138}" "" "616delG" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.69810413del" "" "pathogenic (recessive)" "" "0000595779" "3" "90" "11" "69631158" "69631158" "del" "0" "00006" "FGF3_000009" "g.69631158del" "" "{PMID:Tekin 2008:18435799}" "" "254delT" "" "Germline" "" "" "0" "" "" "g.69816390del" "" "pathogenic (recessive)" "" "0000595780" "3" "90" "11" "69633685" "69633685" "subst" "0" "00006" "FGF3_000010" "g.69633685A>G" "" "{PMID:Tekin 2008:18435799}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69818917A>G" "" "pathogenic (recessive)" "" "0000595781" "3" "90" "11" "69633506" "69633506" "subst" "0" "00006" "FGF3_000011" "g.69633506C>A" "" "{PMID:Alsmadi 2009:18701883}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69818738C>A" "" "pathogenic (recessive)" "" "0000595782" "21" "90" "11" "69631095" "69631095" "subst" "0" "00006" "FGF3_000012" "g.69631095T>C" "" "{PMID:Sensi 2011:21480479}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69816327T>C" "" "pathogenic (recessive)" "" "0000595783" "11" "90" "11" "69633556" "69633556" "subst" "0" "00006" "FGF3_000014" "g.69633556T>C" "" "{PMID:Sensi 2011:21480479}" "" "" "" "Germline" "" "" "0" "" "" "g.69818788T>C" "" "pathogenic (recessive)" "" "0000595784" "11" "90" "11" "69625337" "69625338" "del" "0" "00006" "FGF3_000013" "g.69625337_69625338del" "" "{PMID:Sensi 2011:21480479}" "" "457-458delTG" "" "Germline" "yes" "" "0" "" "" "g.69810569_69810570del" "" "pathogenic (recessive)" "" "0000595785" "21" "90" "11" "69631102" "69631102" "subst" "2.03036E-5" "00006" "FGF3_000007" "g.69631102G>A" "" "{PMID:Sensi 2011:21480479}" "" "" "" "Germline" "" "" "0" "" "" "g.69816334G>A" "" "pathogenic (recessive)" "" "0000595786" "3" "90" "11" "69631129" "69631129" "subst" "4.06065E-6" "00006" "FGF3_000015" "g.69631129G>A" "" "{PMID:Ramsebner 2009:19950373}" "" "284C>T (R95W)" "" "Germline" "yes" "" "0" "" "" "g.69816361G>A" "" "pathogenic (recessive)" "" "0000595787" "3" "90" "11" "69633552" "69633552" "subst" "0" "00006" "FGF3_000003" "g.69633552G>T" "" "{PMID:Dill 2011:21752681}" "" "" "" "Germline" "" "" "0" "" "" "g.69818784G>T" "" "pathogenic (recessive)" "" "0000595788" "3" "90" "11" "69631102" "69631102" "subst" "2.03036E-5" "00006" "FGF3_000007" "g.69631102G>A" "" "{PMID:Riazuddin 2011:21306635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69816334G>A" "" "pathogenic (recessive)" "" "0000595789" "3" "90" "11" "69631129" "69631129" "subst" "4.06065E-6" "00006" "FGF3_000015" "g.69631129G>A" "" "{PMID:Riazuddin 2011:21306635}" "" "" "" "Germline" "yes" "" "0" "" "" "g.69816361G>A" "" "pathogenic (recessive)" "" "0000595790" "3" "90" "11" "69625401" "69625401" "del" "0" "00006" "FGF3_000016" "g.69625401del" "" "{PMID:Riazuddin 2011:21306635}" "" "394delC" "" "Germline" "yes" "" "0" "" "" "g.69810633del" "" "pathogenic (recessive)" "" "0000613674" "0" "90" "11" "69631102" "69631102" "dup" "0" "01943" "FGF3_000017" "g.69631102dup" "" "" "" "FGF3(NM_005247.3):c.310dupC (p.R104Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69816334dup" "" "pathogenic" "" "0000613675" "0" "70" "11" "69631129" "69631129" "subst" "4.06065E-6" "01943" "FGF3_000015" "g.69631129G>A" "" "" "" "FGF3(NM_005247.3):c.283C>T (p.R95W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69816361G>A" "" "likely pathogenic" "" "0000613676" "0" "70" "11" "69633657" "69633657" "del" "1.25272E-5" "01943" "FGF3_000018" "g.69633657del" "" "" "" "FGF3(NM_005247.3):c.45delC (p.W16Gfs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69818889del" "" "likely pathogenic" "" "0000641142" "1" "99" "11" "69625181" "69625181" "del" "0" "00004" "FGF3_000019" "g.69625181del" "" "{DB:DVD}, {PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69810413del" "" "pathogenic" "" "0000641143" "1" "99" "11" "69625327" "69625327" "subst" "0" "00004" "FGF3_000006" "g.69625327A>G" "" "{DB:DVD}, {PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69810559A>G" "" "pathogenic" "" "0000641144" "1" "99" "11" "69625337" "69625338" "del" "0" "00004" "FGF3_000020" "g.69625337_69625338del" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69810569_69810570del" "" "pathogenic" "" "0000641145" "1" "99" "11" "69625401" "69625401" "del" "0" "00004" "FGF3_000021" "g.69625401del" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Riazuddin 2011:21306635}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69810633del" "" "pathogenic" "" "0000641146" "1" "99" "11" "69631095" "69631095" "subst" "0" "00004" "FGF3_000012" "g.69631095T>C" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69816327T>C" "" "pathogenic" "" "0000641147" "1" "99" "11" "69631102" "69631102" "subst" "2.03036E-5" "00004" "FGF3_000007" "g.69631102G>A" "" "{DB:DVD}, {PMID:Tekin 2007:17236138}, {PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}, {PMID:Riazuddin 2011:21306635}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69816334G>A" "" "pathogenic" "" "0000641148" "1" "99" "11" "69631129" "69631129" "subst" "4.06065E-6" "00004" "FGF3_000015" "g.69631129G>A" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Ramsebner 2010:19950373}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69816361G>A" "" "pathogenic" "" "0000641149" "1" "99" "11" "69631158" "69631158" "del" "0" "00004" "FGF3_000022" "g.69631158del" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Tekin 2008:18435799}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69816390del" "" "pathogenic" "" "0000641150" "1" "99" "11" "69633506" "69633506" "subst" "0" "00004" "FGF3_000011" "g.69633506C>A" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Alsmadi 2009:18701883}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69818738C>A" "" "pathogenic" "" "0000641151" "1" "99" "11" "69633552" "69633552" "subst" "0" "00004" "FGF3_000003" "g.69633552G>T" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Dill 2011:21752681}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69818784G>T" "" "pathogenic" "" "0000641152" "1" "99" "11" "69633556" "69633556" "subst" "0" "00004" "FGF3_000014" "g.69633556T>C" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Sensi 2011:21480479}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69818788T>C" "" "pathogenic" "" "0000641153" "1" "99" "11" "69633685" "69633685" "subst" "0" "00004" "FGF3_000010" "g.69633685A>G" "" "{DB:DVD}, {PMID:Ordonez 1993:22993869}, {PMID:Tekin 2008:18435799}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69818917A>G" "" "pathogenic" "" "0000648380" "1" "70" "11" "69631129" "69631129" "subst" "4.06065E-6" "03575" "FGF3_000015" "g.69631129G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs281860303}" "Germline" "" "rs281860303" "0" "" "" "g.69816361G>A" "" "likely pathogenic" "" "0000656900" "0" "70" "11" "69631129" "69631129" "subst" "4.06065E-6" "02327" "FGF3_000015" "g.69631129G>A" "" "" "" "FGF3(NM_005247.3):c.283C>T (p.R95W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69816361G>A" "" "likely pathogenic" "" "0000656901" "0" "30" "11" "69633624" "69633624" "subst" "0.000152474" "01943" "FGF3_000023" "g.69633624C>T" "" "" "" "FGF3(NM_005247.3):c.78G>A (p.R26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69818856C>T" "" "likely benign" "" "0000679320" "0" "50" "11" "69625318" "69625318" "subst" "2.04846E-5" "01943" "FGF3_000024" "g.69625318C>G" "" "" "" "FGF3(NM_005247.3):c.475G>C (p.G159R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679321" "0" "70" "11" "69631102" "69631102" "dup" "0" "02327" "FGF3_000017" "g.69631102dup" "" "" "" "FGF3(NM_005247.3):c.310dupC (p.R104Pfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683495" "3" "70" "11" "69633536" "69633536" "subst" "2.0236E-5" "02404" "FGF3_000025" "g.69633536G>A" "" "{PMID:Doll 2020:33187236}" "" "" "homozygous variant was found in two distantly related families with parental consanguinity and segregated in six affected individuals." "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000691176" "0" "50" "11" "69625345" "69625345" "subst" "4.90525E-5" "01943" "FGF3_000026" "g.69625345C>T" "" "" "" "FGF3(NM_005247.3):c.448G>A (p.E150K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723689" "0" "90" "11" "69633552" "69633552" "subst" "0" "02329" "FGF3_000003" "g.69633552G>T" "" "" "" "FGF3(NM_005247.4):c.150C>A (p.C50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805375" "0" "50" "11" "69625179" "69625179" "subst" "0" "01943" "FGF3_000027" "g.69625179C>T" "" "" "" "FGF3(NM_005247.3):c.614G>A (p.G205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000815009" "11" "90" "11" "0" "0" "" "0" "00006" "DRD4_000002" "g.?" "" "{PMID:Prasad 2016:26502894}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0001038722" "0" "30" "11" "69625471" "69625471" "subst" "9.20573E-6" "01804" "FGF3_000028" "g.69625471G>A" "" "" "" "FGF3(NM_005247.4):c.325-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FGF3 ## Count = 44 "{{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}}" "0000287384" "00007908" "90" "368" "0" "384" "0" "c.368_384del" "r.(?)" "p.(Glu123ValfsTer11)" "" "0000287385" "00007908" "50" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Arg135Gln)" "" "0000545577" "00007908" "10" "303" "0" "303" "0" "c.303G>C" "r.(?)" "p.(Lys101Asn)" "" "0000595776" "00007908" "90" "466" "0" "466" "0" "c.466T>C" "r.(?)" "p.(Ser156Pro)" "" "0000595777" "00007908" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "" "0000595778" "00007908" "90" "616" "0" "616" "0" "c.616del" "r.(?)" "p.(Val206Serfs*117)" "" "0000595779" "00007908" "90" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Ile85Metfs*15)" "" "0000595780" "00007908" "90" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Leu6Pro)" "" "0000595781" "00007908" "90" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Gly66Cys)" "" "0000595782" "00007908" "90" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Tyr106Cys)" "" "0000595783" "00007908" "90" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000595784" "00007908" "90" "457" "0" "458" "0" "c.457_458del" "r.(?)" "p.(Trp153Valfs*51)" "" "0000595785" "00007908" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "" "0000595786" "00007908" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000595787" "00007908" "90" "150" "0" "150" "0" "c.150C>A" "r.(?)" "p.(Cys50*)" "" "0000595788" "00007908" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "" "0000595789" "00007908" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000595790" "00007908" "90" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Arg132Glyfs*26)" "" "0000613674" "00007908" "90" "310" "0" "310" "0" "c.310dup" "r.(?)" "p.(Arg104ProfsTer24)" "" "0000613675" "00007908" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000613676" "00007908" "70" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Trp16GlyfsTer63)" "" "0000641142" "00007908" "99" "616" "0" "616" "0" "c.616del" "r.(?)" "p.(Val206Serfs*117)" "3" "0000641143" "00007908" "99" "466" "0" "466" "0" "c.466T>C" "r.(?)" "p.(Ser156Pro)" "3" "0000641144" "00007908" "99" "457" "0" "458" "0" "c.457_458del" "r.(?)" "p.(Trp153Valfs*51)" "3" "0000641145" "00007908" "99" "394" "0" "394" "0" "c.394del" "r.(?)" "p.(Arg132Glyfs*26)" "3" "0000641146" "00007908" "99" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Tyr106Cys)" "2" "0000641147" "00007908" "99" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "2" "0000641148" "00007908" "99" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "2" "0000641149" "00007908" "99" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Ile85Metfs*15)" "2" "0000641150" "00007908" "99" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Gly66Cys)" "1" "0000641151" "00007908" "99" "150" "0" "150" "0" "c.150C>A" "r.(?)" "p.(Cys50*)" "1" "0000641152" "00007908" "99" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "1" "0000641153" "00007908" "99" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Leu6Pro)" "1" "0000648380" "00007908" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000656900" "00007908" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000656901" "00007908" "30" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Arg26=)" "" "0000679320" "00007908" "50" "475" "0" "475" "0" "c.475G>C" "r.(?)" "p.(Gly159Arg)" "" "0000679321" "00007908" "70" "310" "0" "310" "0" "c.310dup" "r.(?)" "p.(Arg104ProfsTer24)" "" "0000683495" "00007908" "70" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Leu56Phe)" "1" "0000691176" "00007908" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Glu150Lys)" "" "0000723689" "00007908" "90" "150" "0" "150" "0" "c.150C>A" "r.(?)" "p.(Cys50Ter)" "" "0000805375" "00007908" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Gly205Glu)" "" "0000815009" "00007908" "90" "-3" "0" "220" "1" "c.(?_-3)_(220+1_221-1)del" "r.spl" "p.0?" "" "0001038722" "00007908" "30" "325" "-3" "325" "-3" "c.325-3C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000265195" "0000595776" "0000265196" "0000595777" "0000265197" "0000595778" "0000265198" "0000595779" "0000265199" "0000595780" "0000265200" "0000595781" "0000265201" "0000595782" "0000265201" "0000595784" "0000265202" "0000595783" "0000265202" "0000595785" "0000265203" "0000595786" "0000265204" "0000595787" "0000265205" "0000595788" "0000265206" "0000595789" "0000265207" "0000595790" "0000285400" "0000641142" "0000285401" "0000641143" "0000285402" "0000641144" "0000285403" "0000641145" "0000285404" "0000641146" "0000285405" "0000641147" "0000285406" "0000641148" "0000285407" "0000641149" "0000285408" "0000641150" "0000285409" "0000641151" "0000285410" "0000641152" "0000285411" "0000641153" "0000291691" "0000648380" "0000309045" "0000683495" "0000387148" "0000815009"