### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FUZ) # 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}}" "FUZ" "fuzzy homolog (Drosophila)" "19" "q13.33" "unknown" "NG_032843.1" "UD_132378810877" "" "https://www.LOVD.nl/FUZ" "" "1" "26219" "80199" "610622" "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/FUZ_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-01 10:40:58" "00006" "2025-12-16 15:12:27" ## 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}}" "00008217" "FUZ" "transcript variant 1" "003" "NM_025129.4" "" "NP_079405.2" "" "" "" "-204" "1542" "1257" "50316567" "50310123" "" "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}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "00949" "craniosynost." "craniosynostosis, nonspecific" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FUZ" "00860" ## 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}}" "00292179" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00375537" "" "" "" "2" "" "00151" "Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis" "" "F" "yes" "(Turkey)" "" "0" "" "" "" "" "00388439" "" "" "" "1" "" "00000" "{PMID:Zhang 2018:29068549}" "" "" "" "" "" "0" "" "" "African American" "R11-569" "00388463" "" "" "" "1" "" "00000" "{PMID:Zhang 2018:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "white" "R98-523A" "00453796" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV166" "00460964" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00469723" "" "" "" "1" "" "01164" "" "" "F" "likely" "India" "" "0" "" "" "" "349716" "00469737" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "Italy" "" "0" "" "" "" "Pat1" "00469738" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00469739" "" "" "" "2" "" "00006" "{PMID:Seo 2011:21840926}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00469740" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "2-generation family, 1 affected, unaffected carrier father" "F" "yes" "Italy" "" "0" "" "" "Sicily" "Pat4" "00469741" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "" "M" "" "Italy" "" "0" "" "" "white" "Pat5" "00469742" "" "" "" "11" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469743" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469744" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469745" "" "" "" "23" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469746" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469747" "" "" "" "1" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469748" "" "" "" "3" "" "00006" "{PMID:Seo 2011:21840926}" "analysis 234 NTD cases" "" "" "Italy" "" "0" "" "" "" "" "00469749" "" "" "" "2" "" "00006" "{PMID:Singh 2024:38702430}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Fam1Pat1" "00469750" "" "" "" "1" "" "00006" "{PMID:Singh 2024:38702430}, {PMID:Jacob 2025:39706863}" "2-generation family, affected fetus, unaffected heterozygous carrier parents" "" "no" "India" "<00y00m00d" "0" "" "" "" "FamPat2;?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00292179" "00198" "00375537" "00949" "00388439" "00198" "00388463" "00198" "00453796" "00152" "00460964" "00198" "00469723" "00860" "00469737" "00860" "00469738" "00860" "00469739" "00860" "00469740" "00860" "00469741" "00860" "00469742" "00860" "00469743" "00860" "00469744" "00860" "00469745" "00860" "00469746" "00860" "00469747" "00860" "00469748" "00860" "00469749" "00198" "00469750" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00860, 00949 ## Count = 12 "{{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}}" "0000270751" "00949" "00375537" "00151" "Familial, autosomal recessive" "" "craniosynostosis, metopic suture" "00y" "" "" "" "" "" "" "" "" "" "" "0000281991" "00198" "00388439" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282015" "00198" "00388463" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000342453" "00152" "00453796" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000354874" "00860" "00469723" "01164" "Unknown" "05y" "Neurodevelopmental delay, Atrioventricular canal defect, Broad thumb, Deviation of finger, Polysyndactyly of hallux, Pectus carinatum, Genu valgum, Valvular pulmonary stenosis, Patent ductus arteriosus, Poor speech" "" "" "" "" "" "" "" "" "" "" "" "0000354889" "00860" "00469737" "00006" "Isolated (sporadic)" "" "see paper; ..., birth-31wg, myelomeningocele at L5-S2 level, Chiari II malformation, hydrocephalus" "" "" "" "" "" "" "" "" "NTD" "neural tube defect" "" "0000354890" "00860" "00469738" "00006" "Unknown" "" "see paper; ..., caudal regression syndrome" "" "" "" "" "" "" "" "" "" "neural tube defect" "" "0000354891" "00860" "00469739" "00006" "Unknown" "" "see paper; ..., myelomeningocele" "" "" "" "" "" "" "" "" "" "neural tube defect" "" "0000354892" "00860" "00469740" "00006" "Unknown" "" "see paper; ..., lumbo-sacral myelomeningocele, Chiari II malformation, hydrocephalus" "" "" "" "" "" "" "" "" "NTD" "neural tube defect" "" "0000354893" "00860" "00469741" "00006" "Unknown" "" "see paper; ..., ulcerated lumbar hemimyelomeningocele, diastematomyelia, triventricular hydrocephalus, Chiari II malformation, moderate transmissive deafness" "" "" "" "" "" "" "" "" "NTD" "neural tube defect" "" "0000354894" "00198" "00469749" "00006" "Familial, autosomal recessive" "02y09m" "see paper; ..., skeletal dysplasia; birth weight 2.8 kg (-1.19 SD); congenital heart defect; normal development, normal speech; 2y9m-height 94 cm (+0.37 SD), weight 10.5 kg (-2.24 SD) OFC 46 cm (-1.51 SD); no midline facial cleft, prominent forehead, medial flaring of the eyebrow, low set ears, prominent antihelix, no cleft lip, broad nasal bridge, no short ribs, short and broad thumbs, clinodactyly 5th fingers, polydactyly, preaxial polysyndactyly foot, postaxial polysyndactyly foot; no thickened nuchal fold, atrioventricular canal/septal defect, no hypoplastic left ventricle" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000354895" "00198" "00469750" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; ..., 19wg-pregnancy terminated, atrioventricular septal defect, polydactyly, right cleft lip, polydactyly (seven digits in both hands and feet), bilateral duplicated hallux" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" ## 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}}" "0000293347" "00292179" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000376734" "00375537" "1" "00151" "00151" "2021-06-05 16:31:35" "" "" "SEQ-NG" "DNA" "whole blood" "" "0000389680" "00388439" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389704" "00388463" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000455408" "00453796" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462596" "00460964" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000471390" "00469723" "1" "01164" "01164" "2025-11-19 14:30:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471405" "00469737" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471406" "00469738" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471407" "00469739" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471408" "00469740" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471409" "00469741" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471410" "00469742" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471411" "00469743" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471412" "00469744" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471413" "00469745" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471414" "00469746" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471415" "00469747" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471416" "00469748" "1" "00006" "00006" "2025-11-19 18:41:36" "" "" "SEQ" "DNA" "" "" "0000471417" "00469749" "1" "00006" "00006" "2025-11-19 18:58:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471418" "00469750" "1" "00006" "00006" "2025-11-19 19:05:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000389680" "FUZ" "0000389704" "FUZ" "0000462596" "FUZ" "0000471390" "FUZ" "0000471405" "FUZ" "0000471406" "FUZ" "0000471407" "FUZ" "0000471408" "FUZ" "0000471409" "FUZ" "0000471410" "FUZ" "0000471411" "FUZ" "0000471412" "FUZ" "0000471413" "FUZ" "0000471414" "FUZ" "0000471415" "FUZ" "0000471416" "FUZ" ## 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 = 38 "{{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}}" "0000249251" "0" "10" "19" "50314470" "50314470" "del" "0" "02325" "FUZ_000002" "g.50314470del" "" "" "" "FUZ(NM_025129.5):c.492+161delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49811213del" "" "benign" "" "0000253939" "0" "10" "19" "50314738" "50314738" "subst" "0.0465808" "01943" "FUZ_000003" "g.50314738A>C" "" "" "" "FUZ(NM_025129.4):c.388-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49811481A>C" "" "benign" "" "0000287988" "0" "10" "19" "50312653" "50312653" "subst" "0.117571" "01943" "FUZ_000001" "g.50312653C>T" "" "" "" "FUZ(NM_025129.4):c.672G>A (p.L224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49809396C>T" "" "benign" "" "0000326728" "0" "50" "19" "50285851" "50285851" "subst" "8.13411E-6" "01804" "AP2A1_000001" "g.50285851G>A" "" "" "" "AP2A1(NM_014203.2):c.343G>A (p.(Ala115Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49782594G>A" "" "VUS" "" "0000326729" "0" "50" "19" "50305818" "50305818" "subst" "0.00193108" "01804" "AP2A1_000002" "g.50305818C>T" "" "" "" "AP2A1(NM_014203.2):c.2142C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49802561C>T" "" "VUS" "" "0000568028" "0" "30" "19" "50302198" "50302198" "subst" "1.30988E-5" "01943" "AP2A1_000003" "g.50302198C>T" "" "" "" "AP2A1(NM_014203.2):c.954C>T (p.I318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49798941C>T" "" "likely benign" "" "0000568029" "0" "30" "19" "50308795" "50308795" "subst" "0" "01943" "AP2A1_000004" "g.50308795G>T" "" "" "" "AP2A1(NM_014203.2):c.2496G>T (p.R832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49805538G>T" "" "likely benign" "" "0000568030" "0" "30" "19" "50312016" "50312016" "subst" "0" "01804" "FUZ_000005" "g.50312016C>G" "" "" "" "FUZ(NM_001171937.1):c.743G>C (p.(Arg248Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49808759C>G" "" "likely benign" "" "0000568031" "0" "30" "19" "50312659" "50312659" "subst" "6.02138E-5" "01943" "FUZ_000006" "g.50312659C>T" "" "" "" "FUZ(NM_025129.4):c.666G>A (p.V222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49809402C>T" "" "likely benign" "" "0000650036" "1" "50" "19" "50310454" "50310454" "subst" "0.000150632" "03575" "FUZ_000004" "g.50310454C>T" "2/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "risk factor; 2 heterozygous, no homozygous; {DB:CLININrs137955120}" "Germline" "" "rs137955120" "0" "" "" "g.49807197C>T" "" "VUS" "" "0000788787" "3" "50" "19" "50312016" "50312016" "subst" "0" "00151" "FUZ_000005" "g.50312016C>G" "" "Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis" "" "" "" "Germline" "yes" "" "0" "" "" "g.49808759C>G" "" "VUS" "ACMG" "0000818884" "3" "90" "19" "50316244" "50316266" "del" "0" "00000" "FUZ_000008" "g.50316244_50316266del" "" "{PMID:Zhang 2018:29068549}" "" "NM_025129.4:c.98_111+9del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818909" "0" "70" "19" "50312016" "50312016" "subst" "0" "00000" "FUZ_000007" "g.50312016C>A" "" "{PMID:Zhang 2018:29068549}" "" "NM_025129.4:c.851G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000866231" "0" "50" "19" "50306248" "50306248" "subst" "0" "01943" "AP2A1_000005" "g.50306248T>G" "" "" "" "AP2A1(NM_014203.2):c.2223T>G (p.D741E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983596" "0" "30" "19" "50314707" "50314707" "subst" "0.00128063" "01804" "AP2A1_000006" "g.50314707G>A" "" "" "" "FUZ(NM_025129.5):c.405C>T (p.(Ile135=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005016" "0" "50" "19" "50310454" "50310454" "subst" "0.000150632" "01804" "FUZ_000004" "g.50310454C>T" "" "" "" "FUZ(NM_025129.4):c.1211G>A (p.(Arg404Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005017" "0" "50" "19" "50315947" "50315947" "subst" "0" "01804" "AP2A1_000007" "g.50315947C>T" "" "" "" "FUZ(NM_025129.4):c.158G>A (p.(Gly53Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007515" "0" "70" "19" "50315974" "50315974" "subst" "0" "00006" "FUZ_000009" "g.50315974C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_025129.5:c.131C>T" "" "Germline" "" "" "0" "" "" "g.49812717C>T" "" "VUS" "" "0001022123" "0" "50" "19" "50312016" "50312016" "subst" "0" "04796" "FUZ_000005" "g.50312016C>G" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.49808759C>G" "" "VUS" "" "0001043110" "0" "30" "19" "50285809" "50285809" "subst" "0.0141305" "01804" "AP2A1_000008" "g.50285809C>T" "" "" "" "AP2A1(NM_130787.3):c.301C>T (p.(Leu101=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043111" "0" "30" "19" "50314960" "50314960" "subst" "0.000434479" "01804" "AP2A1_000009" "g.50314960G>C" "" "" "" "FUZ(NM_025129.5):c.319-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043112" "0" "30" "19" "50316002" "50316002" "subst" "2.85142E-5" "01804" "AP2A1_000010" "g.50316002G>C" "" "" "" "FUZ(NM_025129.5):c.112-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059533" "3" "70" "19" "50312724" "50312724" "subst" "2.4505E-5" "01164" "FUZ_000010" "g.50312724C>T" "" "" "" "" "ACMG: VUS (BP4, PM2_supporting, PM3); observed in homozygous state and in compound heterozygous state with a VUS in individuals affected with Orofaciodigital syndrome" "Germline" "?" "" "0" "" "" "g.49809467C>T" "" "VUS (!)" "ACMG" "0001059552" "0" "70" "19" "50315990" "50315990" "subst" "0" "00006" "FUZ_000022" "g.50315990G>A" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "De novo" "" "" "0" "" "" "g.49812733G>A" "" "likely pathogenic (dominant)" "" "0001059553" "0" "30" "19" "50314693" "50314693" "subst" "8.13193E-6" "00006" "FUZ_000021" "g.50314693C>T" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49811436C>T" "" "likely benign" "" "0001059554" "0" "30" "19" "50314688" "50314688" "subst" "4.06726E-6" "00006" "FUZ_000020" "g.50314688A>T" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49811431A>T" "" "likely benign" "" "0001059555" "11" "70" "19" "50310605" "50310605" "subst" "2.45144E-5" "00006" "FUZ_000013" "g.50310605C>A" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49807348C>A" "" "likely pathogenic" "" "0001059556" "0" "70" "19" "50310454" "50310454" "subst" "0.000150632" "00006" "FUZ_000004" "g.50310454C>T" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.49807197C>T" "" "likely pathogenic" "" "0001059557" "1" "30" "19" "50312801" "50312801" "subst" "0.0266821" "00006" "FUZ_000019" "g.50312801C>T" "11/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "found in 3 controls" "Germline" "" "rs35002951" "0" "" "" "g.49809544C>T" "" "likely benign" "" "0001059558" "1" "30" "19" "50310466" "50310466" "subst" "0.0285983" "00006" "FUZ_000012" "g.50310466G>A" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "found in 1 control" "Germline" "" "rs12610577" "0" "" "" "g.49807209G>A" "" "likely benign" "" "0001059559" "1" "30" "19" "50312779" "50312779" "subst" "0.00019598" "00006" "FUZ_000018" "g.50312779C>T" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49809522C>T" "" "likely benign" "" "0001059560" "1" "30" "19" "50312048" "50312048" "subst" "0.0388794" "00006" "FUZ_000017" "g.50312048G>A" "23/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "found in 11 controls" "Germline" "" "rs11557714" "0" "" "" "g.49808791G>A" "" "likely benign" "" "0001059561" "1" "30" "19" "50311997" "50311997" "subst" "0" "00006" "FUZ_000016" "g.50311997G>A" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49808740G>A" "" "likely benign" "" "0001059562" "1" "30" "19" "50311844" "50311844" "subst" "0.00352456" "00006" "FUZ_000015" "g.50311844G>A" "1/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "not in 130 controls" "Germline" "" "" "0" "" "" "g.49808587G>A" "" "likely benign" "" "0001059563" "1" "30" "19" "50311702" "50311702" "subst" "0.000555386" "00006" "FUZ_000014" "g.50311702A>G" "3/234 NTD cases" "{PMID:Seo 2011:21840926}" "" "" "found in 1 control" "Germline" "" "" "0" "" "" "g.49808445A>G" "" "likely benign" "" "0001059564" "3" "90" "19" "50312724" "50312724" "subst" "2.4505E-5" "00006" "FUZ_000010" "g.50312724C>T" "" "{PMID:Singh 2024:38702430}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49809467C>T" "" "pathogenic (recessive)" "" "0001059565" "21" "90" "19" "50312692" "50312703" "del" "0" "00006" "FUZ_000011" "g.50312692_50312703del" "" "{PMID:Singh 2024:38702430}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.49809435_49809446del" "SCV004036155.1" "pathogenic (recessive)" "" "0001059566" "11" "90" "19" "50312724" "50312724" "subst" "2.4505E-5" "00006" "FUZ_000010" "g.50312724C>T" "" "{PMID:Singh 2024:38702430}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.49809467C>T" "SCV004036154.1" "pathogenic (recessive)" "" ## 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 FUZ ## Count = 38 "{{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}}" "0000249251" "00008217" "10" "492" "161" "492" "161" "c.492+161del" "r.(=)" "p.(=)" "" "0000253939" "00008217" "10" "388" "-14" "388" "-14" "c.388-14T>G" "r.(=)" "p.(=)" "" "0000287988" "00008217" "10" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Leu224=)" "" "0000326728" "00008217" "50" "25814" "0" "25814" "0" "c.*24557C>T" "r.(=)" "p.(=)" "" "0000326729" "00008217" "50" "5847" "0" "5847" "0" "c.*4590G>A" "r.(=)" "p.(=)" "" "0000568028" "00008217" "30" "9467" "0" "9467" "0" "c.*8210G>A" "r.(=)" "p.(=)" "" "0000568029" "00008217" "30" "2870" "0" "2870" "0" "c.*1613C>A" "r.(=)" "p.(=)" "" "0000568030" "00008217" "30" "851" "0" "851" "0" "c.851G>C" "r.(?)" "p.(Arg284Pro)" "" "0000568031" "00008217" "30" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Val222=)" "" "0000650036" "00008217" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000788787" "00008217" "50" "851" "0" "851" "0" "c.851G>C" "r.(?)" "p.(Arg284Pro)" "" "0000818884" "00008217" "90" "98" "0" "111" "9" "c.98_111+9del" "r.?" "p.?" "1" "0000818909" "00008217" "70" "851" "0" "851" "0" "c.851G>T" "r.(?)" "p.(Arg284Leu)" "8" "0000866231" "00008217" "50" "5417" "0" "5417" "0" "c.*4160A>C" "r.(=)" "p.(=)" "" "0000983596" "00008217" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(=)" "" "0001005016" "00008217" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0001005017" "00008217" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Glu)" "" "0001007515" "00008217" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Gly44Asp)" "" "0001022123" "00008217" "50" "851" "0" "851" "0" "c.851G>C" "r.851G>C" "p.Arg284Pro" "8" "0001043110" "00008217" "30" "25856" "0" "25856" "0" "c.*24599G>A" "r.(=)" "p.(=)" "" "0001043111" "00008217" "30" "319" "-4" "319" "-4" "c.319-4C>G" "r.spl?" "p.?" "" "0001043112" "00008217" "30" "112" "-9" "112" "-9" "c.112-9C>G" "r.(=)" "p.(=)" "" "0001059533" "00008217" "70" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "6" "0001059552" "00008217" "70" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Pro39Ser)" "" "0001059553" "00008217" "30" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Gly140Glu)" "" "0001059554" "00008217" "30" "424" "0" "424" "0" "c.424T>A" "r.(?)" "p.(Ser142Thr)" "" "0001059555" "00008217" "70" "1060" "0" "1060" "0" "c.1060G>T" "r.(?)" "p.(Asp354Tyr)" "" "0001059556" "00008217" "70" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0001059557" "00008217" "30" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Gly175Asp)" "" "0001059558" "00008217" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Thr400Ile)" "" "0001059559" "00008217" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Val182=)" "" "0001059560" "00008217" "30" "819" "0" "819" "0" "c.819C>T" "r.(?)" "p.(Asp273=)" "" "0001059561" "00008217" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Phe290=)" "" "0001059562" "00008217" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Pro315=)" "" "0001059563" "00008217" "30" "1002" "0" "1002" "0" "c.1002T>C" "r.(?)" "p.(Tyr334=)" "" "0001059564" "00008217" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" "0001059565" "00008217" "90" "625" "0" "636" "0" "c.625_636del" "r.(?)" "p.(Val209_Leu212del)" "" "0001059566" "00008217" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Glu201Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000293347" "0000650036" "0000376734" "0000788787" "0000389680" "0000818884" "0000389704" "0000818909" "0000455408" "0001007515" "0000462596" "0001022123" "0000471390" "0001059533" "0000471405" "0001059552" "0000471406" "0001059553" "0000471407" "0001059554" "0000471408" "0001059555" "0000471409" "0001059556" "0000471410" "0001059557" "0000471411" "0001059558" "0000471412" "0001059559" "0000471413" "0001059560" "0000471414" "0001059561" "0000471415" "0001059562" "0000471416" "0001059563" "0000471417" "0001059564" "0000471418" "0001059565" "0000471418" "0001059566"