### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FZD2) # 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}}" "FZD2" "frizzled family receptor 2" "17" "q21.1" "unknown" "NC_000017.10" "UD_134753620408" "" "https://www.LOVD.nl/FZD2" "" "1" "4040" "2535" "600667" "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/FZD2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-09-29 21:19:21" "00006" "2026-05-27 11:03:16" ## 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}}" "00001503" "FZD2" "frizzled family receptor 2" "001" "NM_001466.3" "" "NP_001457.1" "" "" "" "-245" "3574" "1698" "42634812" "42638630" "00000" "2012-09-13 13:36:45" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00577" "DRS" "Robinow syndrome, autosomal dominant (DRS)" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01981" "OMOD" "omodysplasia (OMOD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-29 14:28:06" "05845" "OMOD2" "omodysplasia, type 2 (OMOD2)" "AD" "164745" "" "" "" "00006" "2020-09-29 14:30:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FZD2" "01981" "FZD2" "05845" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00311855" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Kosovo" "" "0" "" "" "" "5449" "00311856" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "BAB8705" "00311857" "" "" "" "2" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, affected mother/daughter; daughter" "F" "" "" "" "0" "" "" "" "BAB7987" "00311858" "" "" "00311857" "1" "" "00006" "{PMID:White 2018:29276006}" "affected mother of BAB7987" "F" "" "" "" "0" "" "" "" "BAB7988" "00311859" "" "" "" "4" "" "00006" "{PMID:White 2018:29276006}" "2-generation family, 4 affected (2F, 2M)" "M" "" "" "" "0" "" "" "" "BAB8596" "00311860" "" "" "00311859" "1" "" "00006" "{PMID:White 2018:29276006}" "affected mother of BAB8596" "F" "" "" "" "0" "" "" "" "BAB8594" "00311861" "" "" "00311859" "1" "" "00006" "{PMID:White 2018:29276006}" "sister of BAB8596" "F" "" "" "" "0" "" "" "" "BAB9254" "00311862" "" "" "00311859" "1" "" "00006" "{PMID:White 2018:29276006}" "brother of BAB8596" "M" "" "" "" "0" "" "" "" "BAB9255" "00311882" "" "" "" "2" "" "00006" "{PMID:Saal 2015:25759469}" "2-generation family, affected mother/daughter" "F" "" "United States" "" "0" "" "" "" "FamPat1" "00311883" "" "" "00311882" "1" "" "00006" "{PMID:Saal 2015:25759469}" "daughter" "F" "" "United States" "" "0" "" "" "" "FamPat2" "00479891" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00311855" "00180" "00311856" "00180" "00311857" "00180" "00311858" "00180" "00311859" "00180" "00311860" "00180" "00311861" "00198" "00311862" "00198" "00311882" "01981" "00311883" "01981" "00479891" "00577" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00198, 00577, 01157, 01981, 05845 ## 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}}" "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" "" "" "" "" "" "" "" "" "" "0000237103" "00180" "00311855" "00006" "Isolated (sporadic)" "10y3m" "height (45th); no macrocephaly, broad forehead, high forehead, midface hypoplasia, hypertelorism, mild long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, no bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly 5th fingers; short low implanted thumbs; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237104" "00180" "00311856" "00006" "Isolated (sporadic)" "5y8m" "height (-2.9 SD); relative, broad forehead, high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; micromelia; brachydactyly; clinodactyly 5th fingers; camptodactyly 4th fingers; broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237105" "00180" "00311857" "00006" "Familial, autosomal dominant" "15y" "height (-2.25 SD); no macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, no wide nasal bridge, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237106" "00180" "00311858" "00006" "Familial, autosomal dominant" "47y" "height (-1.7 SD); macrocephaly, broad forehead, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, thin vermillion border, gingival hyperplasia, bilobed tongue, dental anomalies, low set ears; mesomelia; brachydactyly; clinodactyly; no camptodactyly; no broad thumb; broad 1st toe; genital hypoplasia; renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237107" "00180" "00311859" "00006" "Familial, autosomal dominant" "6y7m" "height (-3.5 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia, improved with age; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237108" "00180" "00311860" "00006" "Familial, autosomal dominant" "30y" "height (-2.1 SD); no macrocephaly, broad forehead, high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, anteverted nares, no wide nasal bridge, no thin vermillion border, no bilobed tongue, no dental anomalies, low set ears; mesomelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "OMOD2" "Robinow syndrome" "" "0000237109" "00198" "00311861" "00006" "Unknown" "8y4m" "height (-4.5 SD); no macrocephaly, no broad forehead, no high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, no anteverted nares, no wide nasal bridge, no thin vermillion border, no gingival hyperplasia, no bilobed tongue, no dental anomalies, no low set ears; micromelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000237110" "00198" "00311862" "00006" "Unknown" "4y3m" "height (-2.6 SD); no macrocephaly, no broad forehead, no high forehead, no midface hypoplasia, no hypertelorism, no long eyelashes, no prominent eyes, no anteverted nares, no wide nasal bridge, no thin vermillion border, no gingival hyperplasia, no bilobed tongue, no dental anomalies, no low set ears; micromelia; no brachydactyly; no clinodactyly; no camptodactyly; no broad thumb; no broad 1st toe; no genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000237130" "01981" "00311882" "00006" "Familial, autosomal dominant" "" "see paper; ..., height 10th pecentile; short humeri; radial dislocation, limitation of movement; no vertebral anomalies; round face; frontal bossing, prominent forehead; no small nose with broad tip; long philtrum; flat nasal bridge; cleft lip and cleft palate; hypoplastic genitalia/other genital anomalies; uterine anomalies" "" "" "" "" "" "" "" "" "OMOD2" "omodysplasia" "" "0000237131" "01981" "00311883" "00006" "Familial, autosomal dominant" "" "see paper; ..., height <5th pecentile; short humeri; radial dislocation, limitation of movement; short ulnae; short first metacarpal; femoral anomalies, proximal; short fibulae; vertebral anomalies; round face; frontal bossing, prominent forehead; small nose with broad tip; long philtrum; flat nasal bridge; no cleft lip and cleft palate; no ypoplastic genitalia/other genital anomalies" "" "" "" "" "" "" "" "" "OMOD2" "omodysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000313027" "00311855" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313028" "00311856" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313029" "00311857" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313030" "00311858" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313031" "00311859" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313032" "00311860" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313033" "00311861" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313034" "00311862" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000313054" "00311882" "1" "00006" "00006" "2020-09-29 21:21:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, NimbleGen EZ Exome V2 kit" "0000313055" "00311883" "1" "00006" "00006" "2020-09-29 21:25:28" "" "" "SEQ" "DNA" "" "" "0000481537" "00479891" "1" "03820" "03820" "2026-05-21 16:42:48" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000313027" "FZD2" "0000313028" "FZD2" "0000313029" "FZD2" "0000313030" "FZD2" "0000313031" "FZD2" "0000313032" "FZD2" "0000313033" "FZD2" "0000313034" "FZD2" "0000313054" "FZD2" "0000313055" "FZD2" ## 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 = 24 "{{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}}" "0000013678" "3" "50" "17" "42637054" "42637054" "subst" "0" "00037" "FZD2_000001" "g.42637054G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44559686G>T" "" "VUS" "" "0000348040" "0" "50" "17" "42636265" "42636265" "subst" "0" "02327" "FZD2_000002" "g.42636265C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44558897C>G" "" "VUS" "" "0000561937" "0" "30" "17" "42636579" "42636579" "subst" "0.000809568" "01804" "FZD2_000003" "g.42636579C>T" "" "" "" "FZD2(NM_001466.3):c.1523C>T (p.(Ala508Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44559211C>T" "" "likely benign" "" "0000616627" "0" "50" "17" "42635089" "42635090" "ins" "0" "01804" "FZD2_000004" "g.42635089_42635090insATGCCG" "" "" "" "FZD2(NM_001466.3):c.33_34insATGCCG (p.(Leu11_Leu12insMetPro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44557721_44557722insATGCCG" "" "VUS" "" "0000623695" "0" "30" "17" "42635805" "42635805" "subst" "0.00313681" "01943" "FZD2_000005" "g.42635805C>T" "" "" "" "FZD2(NM_001466.3):c.749C>T (p.T250I, p.(Thr250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44558437C>T" "" "likely benign" "" "0000680900" "0" "50" "17" "42635272" "42635272" "subst" "0" "01804" "FZD2_000006" "g.42635272G>T" "" "" "" "FZD2(NM_001466.3):c.216G>T (p.(Glu72Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000694750" "0" "90" "17" "42636356" "42636356" "subst" "0" "00006" "FZD2_000010" "g.42636356G>A" "" "{PMID:White 2018:29276006}" "" "" "" "De novo" "" "" "0" "" "" "g.44558988G>A" "" "pathogenic (dominant)" "" "0000694751" "0" "90" "17" "42636357" "42636358" "delins" "0" "00006" "FZD2_000012" "g.42636357_42636358delinsTT" "" "{PMID:White 2018:29276006}" "" "" "" "De novo" "" "" "0" "" "" "g.44558989_44558990delinsTT" "" "pathogenic (dominant)" "" "0000694752" "0" "90" "17" "42636357" "42636357" "subst" "0" "00006" "FZD2_000011" "g.42636357G>T" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558989G>T" "" "pathogenic (dominant)" "" "0000694753" "0" "90" "17" "42636357" "42636357" "subst" "0" "00006" "FZD2_000011" "g.42636357G>T" "" "{PMID:White 2018:29276006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44558989G>T" "" "pathogenic (dominant)" "" "0000694754" "21" "90" "17" "42636186" "42636186" "subst" "0" "00006" "FZD2_000009" "g.42636186G>A" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558818G>A" "" "pathogenic (dominant)" "" "0000694755" "0" "90" "17" "42636186" "42636186" "subst" "0" "00006" "FZD2_000009" "g.42636186G>A" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558818G>A" "" "pathogenic (dominant)" "" "0000694756" "11" "50" "17" "42635481" "42635481" "subst" "0" "00006" "FZD2_000008" "g.42635481C>T" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558113C>T" "" "VUS" "" "0000694757" "11" "50" "17" "42635481" "42635481" "subst" "0" "00006" "FZD2_000008" "g.42635481C>T" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558113C>T" "" "VUS" "" "0000694758" "11" "59" "17" "42635481" "42635481" "subst" "0" "00006" "FZD2_000008" "g.42635481C>T" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.44558113C>T" "" "VUS" "" "0000694782" "0" "90" "17" "42636700" "42636700" "subst" "0" "00006" "FZD2_000007" "g.42636700G>A" "" "{PMID:Saal 2015:25759469}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694784" "21" "90" "17" "42636700" "42636700" "subst" "0" "00006" "FZD2_000007" "g.42636700G>A" "" "{PMID:White 2015:25817016}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000808042" "0" "30" "17" "42635094" "42635094" "subst" "0.00113264" "01804" "FZD2_000013" "g.42635094C>T" "" "" "" "FZD2(NM_001466.3):c.38C>T (p.(Pro13Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893961" "0" "30" "17" "42635805" "42635805" "subst" "0.00313681" "01804" "FZD2_000005" "g.42635805C>T" "" "" "" "FZD2(NM_001466.3):c.749C>T (p.T250I, p.(Thr250Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914866" "0" "50" "17" "42636362" "42636362" "subst" "4.06355E-6" "02327" "FZD2_000014" "g.42636362G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003316" "0" "50" "17" "42635873" "42635873" "subst" "0" "01804" "FZD2_000015" "g.42635873T>C" "" "" "" "FZD2(NM_001466.3):c.817T>C (p.(Phe273Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003317" "0" "50" "17" "42636380" "42636380" "subst" "0" "01804" "FZD2_000016" "g.42636380C>T" "" "" "" "FZD2(NM_001466.3):c.1324C>T (p.(Arg442Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003318" "0" "50" "17" "42636629" "42636629" "subst" "0" "01804" "FZD2_000017" "g.42636629T>C" "" "" "" "FZD2(NM_001466.3):c.1573T>C (p.(Tyr525His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001078068" "0" "70" "17" "42636700" "42636700" "subst" "0" "03820" "FZD2_000007" "g.42636700G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44559332G>A" "" "pathogenic" "ACMG" ## 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 FZD2 ## Count = 24 "{{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}}" "0000013678" "00001503" "50" "1998" "0" "1998" "0" "c.*300G>T" "r.(=)" "p.(=)" "" "0000348040" "00001503" "50" "1209" "0" "1209" "0" "c.1209C>G" "r.(?)" "p.(Phe403Leu)" "" "0000561937" "00001503" "30" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ala508Val)" "" "0000616627" "00001503" "50" "33" "0" "34" "0" "c.33_34insATGCCG" "r.(?)" "p.(Leu11_Leu12insMetPro)" "" "0000623695" "00001503" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0000680900" "00001503" "50" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Glu72Asp)" "" "0000694750" "00001503" "90" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Ser)" "" "0000694751" "00001503" "90" "1301" "0" "1302" "0" "c.1301_1302delinsTT" "r.(?)" "p.(Gly434Val)" "" "0000694752" "00001503" "90" "1301" "0" "1301" "0" "c.1301G>T" "r.(?)" "p.(Gly434Val)" "" "0000694753" "00001503" "90" "1301" "0" "1301" "0" "c.1301G>T" "r.(?)" "p.(Gly434Val)" "" "0000694754" "00001503" "90" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Trp377*)" "" "0000694755" "00001503" "90" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Trp377*)" "" "0000694756" "00001503" "50" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Pro142Leu)" "" "0000694757" "00001503" "50" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Pro142Leu)" "" "0000694758" "00001503" "59" "425" "0" "425" "0" "c.425C>T" "r.(?)" "p.(Pro142Leu)" "" "0000694782" "00001503" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "" "0000694784" "00001503" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "" "0000808042" "00001503" "30" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000893961" "00001503" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" "0000914866" "00001503" "50" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Val436Met)" "" "0001003316" "00001503" "50" "817" "0" "817" "0" "c.817T>C" "r.(?)" "p.(Phe273Leu)" "" "0001003317" "00001503" "50" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "" "0001003318" "00001503" "50" "1573" "0" "1573" "0" "c.1573T>C" "r.(?)" "p.(Tyr525His)" "" "0001078068" "00001503" "70" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013678" "0000313027" "0000694750" "0000313028" "0000694751" "0000313029" "0000694752" "0000313030" "0000694753" "0000313031" "0000694754" "0000313031" "0000694758" "0000313032" "0000694755" "0000313033" "0000694756" "0000313034" "0000694757" "0000313054" "0000694782" "0000313055" "0000694784" "0000481537" "0001078068"