### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FZD5) # 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}}" "FZD5" "frizzled family receptor 5" "2" "q33.3" "unknown" "NC_000002.11" "UD_136020735157" "" "https://www.LOVD.nl/FZD5" "" "1" "4043" "7855" "601723" "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/FZD5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-23 15:23:45" "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}}" "00008237" "FZD5" "frizzled family receptor 5" "001" "NM_003468.3" "" "NP_003459.2" "" "" "" "-410" "6154" "1758" "208634143" "208627310" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "00402" "OCCO" "coloboma, ocular (OCCO)" "" "" "" "" "" "00006" "2014-06-06 10:27:02" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00050497" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00444366" "" "" "" "1" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "no" "France" "" "0" "" "" "Algeria;Morocco" "ADN120143" "00444367" "" "" "" "1" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "2-generation family, 1 affected, unaffected parents/sibs" "F" "no" "France" "" "0" "" "" "Algeria" "ADN140259" "00444368" "" "" "" "2" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "2-generation family, affected mother/daughter" "F" "" "France" "" "0" "" "" "" "SG170145/Pat3" "00444369" "" "" "00444368" "1" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "mother" "F" "" "France" "" "0" "" "" "" "SG170145/Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00050497" "00198" "00444366" "00402" "00444367" "00402" "00444368" "00402" "00444369" "00402" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00402 ## Count = 5 "{{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}}" "0000037109" "00198" "00050497" "00006" "Unknown" "" "cataract, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000333619" "00402" "00444366" "00006" "Unknown" "10y" "see paper; ..., no microphthalmia; R iris, choroidal, and optic disc coloboma; L choroidal and optic disc coloboma; right cortical cataract; bilateral congenital deafness; neurocognitive difficulties" "" "" "" "" "" "" "" "" "" "coloboma" "" "0000333620" "00402" "00444367" "00006" "Unknown" "43y" "see paper; ..., no microphthalmia; R optic disc coloboma; L iris and optic disc coloboma with cortical cataract; congenital nystagmus, high myopia" "" "" "" "" "" "" "" "" "" "coloboma" "" "0000333621" "00402" "00444368" "00006" "Familial, autosomal dominant" "26y" "see paper; ..., no microphthalmia; bilateral iris and large chorioretinal coloboma, with R posterior cataract; secondary congenital nystagmus, high myopia" "" "" "" "" "" "" "" "" "" "coloboma" "" "0000333622" "00402" "00444369" "00006" "Unknown" "" "see paper; ..., bilateral OD coloboma" "" "" "" "" "" "" "" "" "" "coloboma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050442" "00050497" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000445934" "00444366" "1" "00006" "00006" "2023-12-23 16:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445935" "00444367" "1" "00006" "00006" "2023-12-23 16:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445936" "00444368" "1" "00006" "00006" "2023-12-23 16:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445937" "00444369" "1" "00006" "00006" "2023-12-23 16:32:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000050442" "SCN1A" ## 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}}" "0000079422" "11" "90" "2" "208462801" "208830422" "dup" "0" "00006" "CCNYL1_000001" "g.208462801_208830422dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.207598077_207965698dup" "" "pathogenic" "" "0000718396" "0" "50" "2" "208632194" "208632194" "subst" "8.23744E-6" "02329" "FZD5_000001" "g.208632194C>G" "" "" "" "FZD5(NM_003468.3):c.1270G>C (p.(Val424Leu)), FZD5(NM_003468.4):c.1270G>C (p.V424L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954143" "0" "70" "2" "208632645" "208632645" "del" "0" "00006" "FZD5_000005" "g.208632645del" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PVS1, PM2; father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.207767921del" "SCV000998820" "likely pathogenic (dominant)" "ACMG" "0000954144" "0" "70" "2" "208632382" "208632383" "ins" "0" "00006" "FZD5_000004" "g.208632382_208632383insTTC" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PM1, PM2, PM4, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.207767658_207767659insTTC" "SCV000998821" "likely pathogenic (dominant)" "ACMG" "0000954145" "21" "70" "2" "208632225" "208632290" "del" "0" "00006" "FZD5_000003" "g.208632225_208632290del" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PM1, PM2, PM4, PP3" "Germline" "" "" "0" "" "" "g.207767501_207767566del" "SCV000998822" "likely pathogenic (dominant)" "ACMG" "0000954146" "0" "70" "2" "208632225" "208632290" "del" "0" "00006" "FZD5_000003" "g.208632225_208632290del" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PM1, PM2, PM4, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.207767501_207767566del" "SCV000998822" "likely pathogenic (dominant)" "ACMG" "0000974874" "0" "50" "2" "208632076" "208632076" "subst" "1.65728E-5" "01804" "FZD5_000006" "g.208632076A>G" "" "" "" "FZD5(NM_003468.4):c.1388T>C (p.(Ile463Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992392" "0" "30" "2" "208631758" "208631758" "subst" "0" "01804" "FZD5_000007" "g.208631758G>A" "" "" "" "FZD5(NM_003468.3):c.1706C>T (p.(Pro569Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992393" "0" "50" "2" "208631834" "208631834" "subst" "0" "01804" "FZD5_000008" "g.208631834C>T" "" "" "" "FZD5(NM_003468.3):c.1630G>A (p.(Gly544Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992394" "0" "30" "2" "208631951" "208631951" "subst" "4.28511E-5" "01804" "FZD5_000009" "g.208631951G>C" "" "" "" "FZD5(NM_003468.3):c.1513C>G (p.(Leu505Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992395" "0" "50" "2" "208632194" "208632194" "subst" "8.23744E-6" "01804" "FZD5_000001" "g.208632194C>G" "" "" "" "FZD5(NM_003468.3):c.1270G>C (p.(Val424Leu)), FZD5(NM_003468.4):c.1270G>C (p.V424L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013602" "0" "70" "2" "208632420" "208632420" "subst" "0" "02329" "FZD5_000010" "g.208632420C>T" "" "" "" "FZD5(NM_003468.4):c.1044G>A (p.W348*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024466" "0" "50" "2" "208632493" "208632495" "del" "0" "02329" "FZD5_000011" "g.208632493_208632495del" "" "" "" "FZD5(NM_003468.4):c.973_975delTTC (p.F325del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032909" "0" "50" "2" "208632948" "208632956" "del" "0" "01804" "FZD5_000012" "g.208632948_208632956del" "" "" "" "FZD5(NM_003468.4):c.513_521del (p.(Pro172_Gly174del))" "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 FZD5 ## 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}}" "0000079422" "00008237" "00" "-196689" "0" "170663" "0" "c.-196689_*168905dup" "r.?" "p.?" "" "0000718396" "00008237" "50" "1270" "0" "1270" "0" "c.1270G>C" "r.(?)" "p.(Val424Leu)" "" "0000954143" "00008237" "70" "820" "0" "820" "0" "c.820del" "r.(?)" "p.(Leu274CysfsTer73)" "" "0000954144" "00008237" "70" "1081" "0" "1082" "0" "c.1081_1082insGAA" "r.(?)" "p.(His361delinsArgAsn)" "" "0000954145" "00008237" "70" "1181" "0" "1246" "0" "c.1181_1246del" "r.(?)" "p.(Asn394_Gly415del)" "" "0000954146" "00008237" "70" "1181" "0" "1246" "0" "c.1181_1246del" "r.(?)" "p.(Asn394_Gly415del)" "" "0000974874" "00008237" "50" "1388" "0" "1388" "0" "c.1388T>C" "r.(?)" "p.(Ile463Thr)" "" "0000992392" "00008237" "30" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Pro569Leu)" "" "0000992393" "00008237" "50" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Gly544Ser)" "" "0000992394" "00008237" "30" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Leu505Val)" "" "0000992395" "00008237" "50" "1270" "0" "1270" "0" "c.1270G>C" "r.(?)" "p.(Val424Leu)" "" "0001013602" "00008237" "70" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Trp348*)" "" "0001024466" "00008237" "50" "973" "0" "975" "0" "c.973_975del" "r.(?)" "p.(Phe325del)" "" "0001032909" "00008237" "50" "513" "0" "521" "0" "c.513_521del" "r.(?)" "p.(Pro172_Gly174del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000050442" "0000079422" "0000445934" "0000954143" "0000445935" "0000954144" "0000445936" "0000954145" "0000445937" "0000954146"