### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP83) # 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}}" "CEP83" "centrosomal protein 83kDa" "12" "q22" "unknown" "NC_000012.11" "UD_140248423745" "" "http://www.LOVD.nl/CEP83" "" "1" "17966" "51134" "615847" "1" "1" "1" "1" "alias: CCDC41\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2013-05-03 00:00:00" "00006" "2016-06-19 17:29:30" "00000" "2025-11-01 13:22:20" ## 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}}" "00023948" "CEP83" "coiled-coil domain containing 41, transcript variant 1" "004" "NM_016122.2" "" "NP_057206.2" "" "" "" "-586" "2639" "2106" "94459988" "94308280" "00001" "2014-06-11 12:57:49" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "00006" "2015-12-07 07:11:25" "00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39" "04110" "NPHP18" "nephronophthisis, type 18 (NPHP-18)" "AR" "615862" "" "" "" "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}}" "CEP83" "04110" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00017033" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "France" "" "0" "" "" "European" "" "00017034" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "European" "" "00017035" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected parents" "F" "no" "" "" "0" "" "" "European" "" "00017036" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "European" "" "00017037" "" "" "" "2" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2" "M" "no" "France;Poland" "" "0" "" "" "European" "" "00017038" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "(Turkey)" "" "0" "" "" "Turkish" "" "00017039" "" "" "" "1" "" "00705" "{PMID:Failler 2014:24882706}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "" "latino" "" "00335192" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "yes" "Netherlands" "" "0" "" "" "" "9272" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00017033" "00139" "00017033" "00374" "00017034" "00139" "00017034" "00374" "00017035" "00139" "00017035" "00374" "00017036" "00139" "00017036" "00374" "00017037" "00139" "00017037" "00374" "00017038" "00139" "00017038" "00374" "00017039" "00139" "00017039" "00307" "00017039" "00374" "00335192" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00307, 00374, 04110 ## Count = 8 "{{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}}" "0000015397" "00374" "00017033" "00705" "Familial, autosomal recessive" "?" "severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis" "" "" "" "" "" "" "" "" "" "" "" "0000015398" "00374" "00017034" "00705" "Familial, autosomal recessive" "?" "severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y" "" "" "" "" "" "" "" "" "" "" "" "0000015399" "00374" "00017035" "00705" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000015400" "00374" "00017036" "00705" "Familial, autosomal recessive" "?" "neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y" "" "" "" "" "" "" "" "" "" "" "" "0000015401" "00374" "00017037" "00705" "Familial, autosomal recessive" "?" "severe renal involvement progressing to ESRD <5y (II1); high blood pressure" "" "" "" "" "" "" "" "" "" "" "" "0000015402" "00374" "00017038" "00705" "Familial, autosomal recessive" "?" "prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000015403" "00374" "00017039" "00705" "Familial, autosomal recessive" "?" "prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, \r\nhydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX)" "" "" "" "" "" "" "" "" "" "" "" "0000252907" "00198" "00335192" "00000" "Familial, autosomal recessive" "" "56y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017012" "00017033" "1" "00705" "00705" "2014-06-13 17:54:00" "" "" "SEQ" "DNA" "" "" "0000017014" "00017034" "1" "00705" "00705" "2014-06-14 11:50:40" "" "" "SEQ" "DNA" "" "" "0000017015" "00017035" "1" "00705" "00705" "2014-06-14 11:57:59" "" "" "SEQ" "DNA" "" "" "0000017016" "00017036" "1" "00705" "00705" "2014-06-14 12:30:06" "" "" "SEQ" "DNA" "" "" "0000017017" "00017037" "1" "00705" "00705" "2014-06-14 12:45:39" "" "" "SEQ" "DNA" "" "" "0000017018" "00017038" "1" "00705" "00705" "2014-06-14 12:58:02" "" "" "SEQ" "DNA" "" "" "0000017019" "00017039" "1" "00705" "00705" "2014-06-14 13:20:51" "" "" "SEQ" "DNA" "" "" "0000336421" "00335192" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000017012" "CEP83" "0000017014" "CEP83" "0000017015" "CEP83" "0000017016" "CEP83" "0000017017" "CEP83" "0000017018" "CEP83" "0000017019" "CEP83" "0000336421" "CEP83" ## 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 = 47 "{{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}}" "0000036972" "11" "70" "12" "94806146" "94806146" "subst" "8.15987E-6" "00705" "CEP83_000003" "g.94806146G>A" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94412370G>A" "" "likely pathogenic" "" "0000036973" "21" "70" "12" "94797012" "94797029" "del" "0" "00705" "CEP83_000007" "g.94797012_94797029del" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94403236_94403253del" "" "likely pathogenic" "" "0000036975" "11" "70" "12" "94702621" "94702623" "del" "0" "00705" "CEP83_000009" "g.94702621_94702623del" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94308845_94308847del" "" "likely pathogenic" "" "0000036976" "3" "70" "12" "94805537" "94805537" "subst" "0" "00705" "CEP83_000001" "g.94805537A>G" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94411761A>G" "" "likely pathogenic" "" "0000036977" "21" "90" "12" "94772743" "94772743" "subst" "9.75435E-5" "00705" "CEP83_000006" "g.94772743G>A" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94378967G>A" "" "pathogenic" "" "0000036978" "11" "70" "12" "94727303" "94727303" "subst" "4.07007E-6" "00705" "CEP83_000004" "g.94727303C>G" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94333527C>G" "" "likely pathogenic" "" "0000036979" "21" "70" "12" "94727305" "94727305" "subst" "0" "00705" "CEP83_000005" "g.94727305G>T" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94333529G>T" "" "likely pathogenic" "" "0000036980" "11" "70" "12" "94727303" "94727303" "subst" "4.07007E-6" "00705" "CEP83_000004" "g.94727303C>G" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94333527C>G" "" "likely pathogenic" "" "0000036981" "3" "70" "12" "94702647" "94702649" "del" "0" "00705" "CEP83_000010" "g.94702647_94702649del" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94308871_94308873del" "" "likely pathogenic" "" "0000036982" "3" "90" "12" "94702689" "94702689" "del" "0" "00705" "CEP83_000008" "g.94702689del" "" "{PMID:Failler 2014:24882706}" "" "A2007del" "" "Germline" "yes" "" "0" "" "" "g.94308913del" "" "pathogenic" "" "0000117673" "21" "90" "12" "94805556" "94805556" "subst" "1.22154E-5" "00006" "CEP83_000002" "g.94805556G>A" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94411780G>A" "" "pathogenic" "" "0000117674" "11" "30" "12" "94772742" "94772742" "subst" "0.112144" "00006" "CEP83_000011" "g.94772742C>T" "" "{PMID:Failler 2014:24882706}" "" "" "" "Germline" "" "" "0" "" "" "g.94378966C>T" "" "likely benign" "" "0000270015" "0" "90" "12" "94772743" "94772743" "subst" "9.75435E-5" "02326" "CEP83_000006" "g.94772743G>A" "" "" "" "CEP83(NM_016122.3):c.625C>T (p.R209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94378967G>A" "" "pathogenic" "" "0000323031" "0" "50" "12" "94769671" "94769671" "subst" "0" "01804" "PLXNC1_000005" "g.94769671C>G" "" "" "" "CCDC41(NM_001042399.1):c.924G>C (p.(Leu308Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94375895C>G" "" "VUS" "" "0000323032" "0" "50" "12" "94806181" "94806181" "subst" "1.63407E-5" "01804" "PLXNC1_000010" "g.94806181G>A" "" "" "" "CCDC41(NM_001042399.1):c.86C>T (p.(Ser29Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94412405G>A" "" "VUS" "" "0000346969" "0" "50" "12" "94772787" "94772787" "subst" "8.14379E-6" "02327" "PLXNC1_000008" "g.94772787A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94379011A>G" "" "VUS" "" "0000549537" "0" "90" "12" "94761635" "94761635" "subst" "0" "02327" "PLXNC1_000004" "g.94761635A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94367859A>T" "" "pathogenic" "" "0000549538" "0" "30" "12" "94769769" "94769769" "subst" "0.0468796" "01804" "PLXNC1_000006" "g.94769769G>A" "" "" "" "CEP83(NM_016122.3):c.826C>T (p.(Arg276Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94375993G>A" "" "likely benign" "" "0000549540" "0" "30" "12" "94772805" "94772805" "subst" "8.20493E-6" "01804" "PLXNC1_000009" "g.94772805T>G" "" "" "" "CCDC41(NM_001042399.1):c.563A>C (p.(Glu188Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94379029T>G" "" "likely benign" "" "0000622997" "0" "30" "12" "94729365" "94729365" "subst" "0" "01943" "PLXNC1_000012" "g.94729365C>T" "" "" "" "CEP83(NM_016122.2):c.1419G>A (p.Q473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94335589C>T" "" "likely benign" "" "0000622998" "0" "30" "12" "94761875" "94761875" "subst" "0.000716688" "01943" "PLXNC1_000013" "g.94761875T>C" "" "" "" "CEP83(NM_016122.2):c.1151A>G (p.K384R), CEP83(NM_016122.3):c.1151A>G (p.K384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94368099T>C" "" "likely benign" "" "0000657215" "0" "90" "12" "94772743" "94772743" "subst" "9.75435E-5" "02325" "CEP83_000006" "g.94772743G>A" "" "" "" "CEP83(NM_016122.3):c.625C>T (p.R209*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94378967G>A" "" "pathogenic" "" "0000679693" "0" "50" "12" "94761906" "94761906" "subst" "0.000468741" "01804" "PLXNC1_000014" "g.94761906G>A" "" "" "" "CCDC41(NM_001042399.1):c.1120C>T (p.(Arg374Cys)), CEP83(NM_016122.3):c.1120C>T (p.R374C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679694" "0" "30" "12" "94772672" "94772672" "subst" "0.000109696" "01943" "PLXNC1_000015" "g.94772672C>T" "" "" "" "CEP83(NM_016122.2):c.696G>A (p.A232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679695" "0" "50" "12" "94796943" "94796943" "subst" "0.00138133" "01943" "PLXNC1_000016" "g.94796943T>C" "" "" "" "CEP83(NM_016122.2):c.417+3A>G, CEP83(NM_016122.3):c.417+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679696" "0" "30" "12" "94806191" "94806191" "subst" "0.000641251" "01943" "PLXNC1_000017" "g.94806191C>T" "" "" "" "CEP83(NM_016122.2):c.76G>A (p.G26S), CEP83(NM_016122.3):c.76G>A (p.G26S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691449" "0" "30" "12" "94725601" "94725601" "subst" "0.000451234" "01943" "PLXNC1_000018" "g.94725601A>G" "" "" "" "CEP83(NM_016122.2):c.1582T>C (p.L528=), CEP83(NM_016122.3):c.1582T>C (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691450" "0" "30" "12" "94796943" "94796943" "subst" "0.00138133" "02326" "PLXNC1_000016" "g.94796943T>C" "" "" "" "CEP83(NM_016122.2):c.417+3A>G, CEP83(NM_016122.3):c.417+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724306" "0" "50" "12" "94761906" "94761906" "subst" "0.000468741" "02325" "PLXNC1_000014" "g.94761906G>A" "" "" "" "CCDC41(NM_001042399.1):c.1120C>T (p.(Arg374Cys)), CEP83(NM_016122.3):c.1120C>T (p.R374C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724307" "0" "30" "12" "94763792" "94763792" "subst" "0" "01943" "PLXNC1_000019" "g.94763792T>C" "" "" "" "CEP83(NM_016122.2):c.954A>G (p.S318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724308" "0" "50" "12" "94772809" "94772809" "subst" "0" "01943" "PLXNC1_000020" "g.94772809G>C" "" "" "" "CEP83(NM_016122.2):c.559C>G (p.L187V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000735696" "0" "70" "12" "94772787" "94772787" "subst" "8.14379E-6" "00000" "PLXNC1_000008" "g.94772787A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94379011A>G" "" "likely pathogenic" "" "0000735794" "0" "70" "12" "94772787" "94772787" "subst" "8.14379E-6" "00000" "PLXNC1_000008" "g.94772787A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94379011A>G" "" "likely pathogenic" "" "0000805983" "0" "50" "12" "94769759" "94769759" "subst" "3.11308E-5" "01943" "PLXNC1_000021" "g.94769759C>T" "" "" "" "CEP83(NM_016122.2):c.836G>A (p.R279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805984" "0" "50" "12" "94772697" "94772697" "subst" "2.84409E-5" "01943" "PLXNC1_000022" "g.94772697A>G" "" "" "" "CEP83(NM_016122.2):c.671T>C (p.L224S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805985" "0" "50" "12" "94772764" "94772764" "subst" "5.69009E-5" "01943" "PLXNC1_000023" "g.94772764C>G" "" "" "" "CEP83(NM_016122.2):c.604G>C (p.D202H), CEP83(NM_016122.3):c.604G>C (p.(Asp202His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853555" "0" "30" "12" "94761875" "94761875" "subst" "0.000716688" "02326" "PLXNC1_000013" "g.94761875T>C" "" "" "" "CEP83(NM_016122.2):c.1151A>G (p.K384R), CEP83(NM_016122.3):c.1151A>G (p.K384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890837" "0" "30" "12" "94703713" "94703713" "subst" "9.12318E-5" "02326" "PLXNC1_000024" "g.94703713G>A" "" "" "" "CEP83(NM_016122.3):c.1982C>T (p.P661L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890838" "0" "30" "12" "94725601" "94725601" "subst" "0.000451234" "02326" "PLXNC1_000018" "g.94725601A>G" "" "" "" "CEP83(NM_016122.2):c.1582T>C (p.L528=), CEP83(NM_016122.3):c.1582T>C (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890839" "0" "30" "12" "94761681" "94761681" "subst" "0.000480245" "02326" "PLXNC1_000025" "g.94761681A>G" "" "" "" "CEP83(NM_016122.3):c.1232T>C (p.M411T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890840" "0" "30" "12" "94806191" "94806191" "subst" "0.000641251" "02326" "PLXNC1_000017" "g.94806191C>T" "" "" "" "CEP83(NM_016122.2):c.76G>A (p.G26S), CEP83(NM_016122.3):c.76G>A (p.G26S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950046" "0" "90" "12" "94794709" "94794709" "dup" "0" "02326" "PLXNC1_000027" "g.94794709dup" "" "" "" "CEP83(NM_016122.3):c.466dupA (p.T156Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980509" "0" "50" "12" "94761633" "94761633" "subst" "0.00010985" "01804" "PLXNC1_000028" "g.94761633T>C" "" "" "" "CEP83(NM_016122.3):c.1280A>G (p.(Glu427Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039525" "0" "30" "12" "94729439" "94729439" "subst" "0" "01804" "PLXNC1_000029" "g.94729439A>G" "" "" "" "CEP83(NM_016122.3):c.1345T>C (p.(Leu449=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039526" "0" "30" "12" "94805635" "94805635" "del" "0" "01804" "PLXNC1_000030" "g.94805635del" "" "" "" "CEP83(NM_016122.3):c.174-5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039527" "0" "50" "12" "94806325" "94806325" "subst" "0" "01804" "PLXNC1_000031" "g.94806325C>T" "" "" "" "CEP83(NM_016122.3):c.-59G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054440" "0" "50" "12" "94772764" "94772764" "subst" "5.69009E-5" "01804" "PLXNC1_000023" "g.94772764C>G" "" "" "" "CEP83(NM_016122.2):c.604G>C (p.D202H), CEP83(NM_016122.3):c.604G>C (p.(Asp202His))" "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 CEP83 ## Count = 47 "{{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}}" "0000036972" "00023948" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Arg41*)" "3" "0000036973" "00023948" "70" "335" "0" "352" "0" "c.335_352del" "r.(?)" "p.(Pro112_Leu117del)" "5" "0000036975" "00023948" "70" "2075" "0" "2077" "0" "c.2075_2077del" "r.(?)" "p.(Gln692del)" "17" "0000036976" "00023948" "70" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "4" "0000036977" "00023948" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209*)" "7" "0000036978" "00023948" "70" "1532" "0" "1532" "0" "c.1532G>C" "r.(?)" "p.(Arg511Pro)" "13" "0000036979" "00023948" "70" "1530" "0" "1530" "0" "c.1530C>A" "r.(?)" "p.(Cys510*)" "13" "0000036980" "00023948" "70" "1532" "0" "1532" "0" "c.1532G>C" "r.(?)" "p.(Arg511Pro)" "13" "0000036981" "00023948" "70" "2050" "0" "2052" "0" "c.2050_2052del" "r.(?)" "p.(Glu684del)" "17" "0000036982" "00023948" "90" "2007" "0" "2007" "0" "c.2007del" "r.(?)" "p.(Glu669Aspfs*14)" "17" "0000117673" "00023948" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81*)" "4" "0000117674" "00023948" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" "" "0000270015" "00023948" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Ter)" "" "0000323031" "00023948" "50" "924" "0" "924" "0" "c.924G>C" "r.(?)" "p.(Leu308Phe)" "" "0000323032" "00023948" "50" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Ser29Leu)" "" "0000346969" "00023948" "50" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000549537" "00023948" "90" "1278" "0" "1278" "0" "c.1278T>A" "r.(?)" "p.(Tyr426Ter)" "" "0000549538" "00023948" "30" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276Trp)" "" "0000549540" "00023948" "30" "563" "0" "563" "0" "c.563A>C" "r.(?)" "p.(Glu188Ala)" "" "0000622997" "00023948" "30" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Gln473=)" "" "0000622998" "00023948" "30" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Lys384Arg)" "" "0000657215" "00023948" "90" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Ter)" "" "0000679693" "00023948" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0000679694" "00023948" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Ala232=)" "" "0000679695" "00023948" "50" "417" "3" "417" "3" "c.417+3A>G" "r.spl?" "p.?" "" "0000679696" "00023948" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Gly26Ser)" "" "0000691449" "00023948" "30" "1582" "0" "1582" "0" "c.1582T>C" "r.(?)" "p.(Leu528=)" "" "0000691450" "00023948" "30" "417" "3" "417" "3" "c.417+3A>G" "r.spl?" "p.?" "" "0000724306" "00023948" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0000724307" "00023948" "30" "954" "0" "954" "0" "c.954A>G" "r.(?)" "p.(Ser318=)" "" "0000724308" "00023948" "50" "559" "0" "559" "0" "c.559C>G" "r.(?)" "p.(Leu187Val)" "" "0000735696" "00023948" "70" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000735794" "00023948" "70" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000805983" "00023948" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" "0000805984" "00023948" "50" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Leu224Ser)" "" "0000805985" "00023948" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Asp202His)" "" "0000853555" "00023948" "30" "1151" "0" "1151" "0" "c.1151A>G" "r.(?)" "p.(Lys384Arg)" "" "0000890837" "00023948" "30" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Pro661Leu)" "" "0000890838" "00023948" "30" "1582" "0" "1582" "0" "c.1582T>C" "r.(?)" "p.(Leu528=)" "" "0000890839" "00023948" "30" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Met411Thr)" "" "0000890840" "00023948" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Gly26Ser)" "" "0000950046" "00023948" "90" "466" "0" "466" "0" "c.466dup" "r.(?)" "p.(Thr156Asnfs*8)" "" "0000980509" "00023948" "50" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Glu427Gly)" "" "0001039525" "00023948" "30" "1345" "0" "1345" "0" "c.1345T>C" "r.(?)" "p.(=)" "" "0001039526" "00023948" "30" "174" "-5" "174" "-5" "c.174-5del" "r.spl?" "p.?" "" "0001039527" "00023948" "50" "-59" "0" "-59" "0" "c.-59G>A" "r.(?)" "p.(=)" "" "0001054440" "00023948" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Asp202His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000017012" "0000036972" "0000017012" "0000036973" "0000017014" "0000036975" "0000017014" "0000117673" "0000017015" "0000036976" "0000017016" "0000036977" "0000017016" "0000036978" "0000017016" "0000117674" "0000017017" "0000036979" "0000017017" "0000036980" "0000017018" "0000036981" "0000017019" "0000036982" "0000336421" "0000735696" "0000336421" "0000735794"