### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CEP250) # 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}}" "CEP250" "centrosomal protein 250kDa" "20" "q11.22" "unknown" "NG_051604.1" "UD_132463378547" "" "https://www.LOVD.nl/CEP250" "" "1" "1859" "11190" "609689" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CEP250_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-29 08:26:22" "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}}" "00005003" "CEP250" "centrosomal protein 250kDa" "001" "NM_007186.3" "" "NP_009117.2" "" "" "" "-647" "7677" "7329" "34043223" "34099803" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05825" "CRDHL2" "dystrophy, cone-rod, and hearing loss, type 2 (CRDHL2)" "AR" "618358" "" "" "" "00006" "2020-08-29 08:40:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CEP250" "05825" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00050153" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00105023" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "?" "Spain" "" "0" "" "" "" "A3.4" "00155406" "" "" "" "6" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Iran;Jewish" "" "00227834" "" "" "" "1" "" "03228" "" "" "" "" "" "" "0" "" "" "" "" "00309027" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309549" "" "" "00309548" "3" "" "00006" "{PMID:Khateb 2014:24780881}" "3 affected sibs (2F, M)" "" "" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII3/4/7" "00309550" "" "" "00309548" "3" "" "00006" "{PMID:Khateb 2014:24780881}" "3 affected sibs (F, 2M)" "F;M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII1/5/6" "00309551" "" "" "00309548" "1" "" "00006" "{PMID:Khateb 2014:24780881}" "1 affected" "M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatII2" "00309552" "" "" "00309548" "1" "" "00006" "{PMID:Khateb 2014:24780881}" "father" "M" "yes" "Iran" "" "0" "" "" "Jewish" "MOL0028PatI" "00309553" "" "" "" "2" "" "00006" "{PMID:Kubota 2018:29718797}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "family" "00309554" "" "" "" "1" "" "00006" "{PMID:Huang 2018:29718797}" "" "" "yes" "China" "" "0" "" "" "Han Chinese" "" "00309589" "" "" "" "1" "" "00004" "{PMID:Fuster-Garcia 2018:30459346}" "analysis 77 USH patients" "" "" "Spain" "" "0" "" "" "" "RP1973" "00426930" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 33, individual 39" "F" "" "" "" "0" "" "" "" "33_39" "00430996" "" "" "" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "" "M" "no" "" "" "0" "" "" "" "CEP250-1" "00430997" "" "" "" "2" "" "00006" "{PMID:Igelman 2021:34223797}" "family, 2 affected (2F)" "F" "no" "" "" "0" "" "" "" "CEP250-2*" "00430998" "" "" "00430997" "1" "" "00006" "{PMID:Igelman 2021:34223797}" "relative" "F" "no" "" "" "0" "" "" "" "CEP250-3*" "00447410" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "USHI-86" "00451045" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066689" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00050153" "00198" "00105023" "04214" "00155406" "02115" "00227834" "04214" "00309027" "04214" "00309549" "00198" "00309550" "00198" "00309551" "00198" "00309552" "00198" "00309553" "00198" "00309554" "04214" "00309589" "04214" "00426930" "04214" "00430996" "04214" "00430997" "04214" "00430998" "04214" "00447410" "00198" "00451045" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02115, 04214, 04249, 05825 ## Count = 16 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036765" "00198" "00050153" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "0000082914" "04214" "00105023" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127906" "02115" "00155406" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234347" "04214" "00309027" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234869" "00198" "00309550" "00006" "Familial, autosomal recessive" "" "see paper; early onset hearing loss, relatively mild retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "0000234870" "00198" "00309549" "00006" "Familial, autosomal recessive" "" "see paper; early onset severe hearing loss, early onset severe retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "0000234871" "00198" "00309551" "00006" "Di-genic" "" "see paper; ..., mild hearing problems" "" "" "" "" "" "" "" "" "" "" "0000234872" "00198" "00309552" "00006" "Familial, autosomal recessive" "" "see paper; age-related hearing problems, relatively mild retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "0000234873" "00198" "00309553" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild cone-rod dystrophy, sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "0000234874" "04214" "00309554" "00006" "Familial, autosomal recessive" "" "see paper; ..., 10y-nyctalopia" "" "" "" "" "" "" "" "" "nonsyndromic retinitis pigmentosa" "" "0000234909" "04214" "00309589" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000318068" "04214" "00426930" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000321604" "04214" "00430996" "00006" "Familial, autosomal recessive" "" "see paper; ..., no cataract; atrophy; ffERG mild cone dysfunction; <10y-moderately progressive sensorineural hearing loss; no vestibular symptoms" "<18y" "" "" "" "" "" "" "" "atypical Usher syndrome" "" "0000321605" "04214" "00430997" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataract; macula punctate yellow deposits; 22y-severe progressive sensorineural hearing loss; no vestibular symptoms" "30y" "" "" "" "" "" "" "" "atypical Usher syndrome" "" "0000321606" "04214" "00430998" "00006" "Familial, autosomal recessive" "" "see paper; ..., cataract; retinal pigmented epithelium granularity; 24y-moderately progressive sensorineural hearing loss; no vestibular symptoms" "13y" "" "" "" "" "" "" "" "atypical Usher syndrome" "" "0000336609" "00198" "00447410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050098" "00050153" "1" "00006" "00006" "2015-09-27 10:58:53" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000105496" "00105023" "1" "01244" "01244" "2017-06-15 15:01:58" "" "" "SEQ-NG-I" "DNA" "Whole blood" "" "0000156271" "00155406" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000228923" "00227834" "1" "03228" "03228" "2019-03-13 03:18:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000310172" "00309027" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310694" "00309549" "1" "00006" "00006" "2020-08-29 08:43:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310695" "00309550" "1" "00006" "00006" "2020-08-29 08:48:52" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310696" "00309551" "1" "00006" "00006" "2020-08-29 08:56:27" "" "" "SEQ" "DNA" "" "" "0000310697" "00309552" "1" "00006" "00006" "2020-08-29 09:00:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310698" "00309553" "1" "00006" "00006" "2020-08-29 13:48:10" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310699" "00309554" "1" "00006" "00006" "2020-08-29 13:56:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000310734" "00309589" "1" "00004" "00006" "2020-08-29 15:23:37" "" "" "arraySEQ" "DNA" "" "" "0000428250" "00426930" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000432406" "00430996" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000432407" "00430997" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000432408" "00430998" "1" "00006" "00006" "2023-01-25 15:27:06" "" "" "SEQ" "DNA" "" "" "0000448987" "00447410" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452644" "00451045" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000050098" "CEP250" "0000156271" "CEP250" "0000228923" "CEP250" "0000310172" "CEP250" "0000310698" "CEP250" "0000310699" "CEP250" "0000310734" "CEP250" "0000428250" "RDH12" ## 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 = 106 "{{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}}" "0000079050" "3" "90" "20" "34067116" "34067116" "subst" "0" "00006" "CEP250_000001" "g.34067116C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.35479291C>T" "" "pathogenic" "" "0000170931" "3" "70" "20" "34064383" "34064383" "subst" "0.000345694" "01244" "CEP250_000002" "g.34064383C>T" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.35476558C>T" "" "likely pathogenic" "ACMG" "0000247660" "0" "10" "20" "34057799" "34057799" "subst" "0.00301413" "02330" "CEP250_000006" "g.34057799A>G" "" "" "" "CEP250(NM_007186.5):c.936A>G (p.T312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35469974A>G" "" "benign" "" "0000247668" "0" "30" "20" "34078562" "34078562" "subst" "0" "02330" "CEP250_000010" "g.34078562A>G" "" "" "" "CEP250(NM_007186.5):c.2686A>G (p.T896A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35490736A>G" "" "likely benign" "" "0000254150" "0" "30" "20" "34057799" "34057799" "subst" "0.00301413" "01943" "CEP250_000006" "g.34057799A>G" "" "" "" "CEP250(NM_007186.5):c.936A>G (p.T312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35469974A>G" "" "likely benign" "" "0000264525" "0" "30" "20" "34059927" "34059927" "subst" "0.000337105" "02330" "CEP250_000007" "g.34059927C>T" "" "" "" "CEP250(NM_007186.5):c.1001C>T (p.A334V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35472102C>T" "" "likely benign" "" "0000264526" "0" "50" "20" "34061245" "34061245" "subst" "5.69133E-5" "02330" "CEP250_000008" "g.34061245T>G" "" "" "" "CEP250(NM_007186.5):c.1256T>G (p.L419W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35473420T>G" "" "VUS" "" "0000264527" "0" "10" "20" "34063434" "34063434" "subst" "0" "02330" "CEP250_000009" "g.34063434G>A" "" "" "" "CEP250(NM_007186.5):c.1679G>A (p.R560K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35475609G>A" "" "benign" "" "0000264528" "0" "10" "20" "34085870" "34085870" "subst" "4.76541E-5" "02330" "CEP250_000011" "g.34085870C>T" "" "" "" "CEP250(NM_007186.5):c.3629C>T (p.A1210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35498041C>T" "" "benign" "" "0000264529" "0" "10" "20" "34089740" "34089740" "subst" "0.00900582" "02330" "CEP250_000012" "g.34089740G>A" "" "" "" "CEP250(NM_007186.5):c.3967G>A (p.A1323T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35501913G>A" "" "benign" "" "0000264530" "0" "10" "20" "34090562" "34090562" "subst" "8.12196E-6" "02330" "CEP250_000013" "g.34090562G>A" "" "" "" "CEP250(NM_007186.5):c.4365G>A (p.K1455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35502734G>A" "" "benign" "" "0000264531" "0" "50" "20" "34090764" "34090764" "subst" "1.62516E-5" "02330" "CEP250_000014" "g.34090764G>A" "" "" "" "CEP250(NM_007186.5):c.4567G>A (p.V1523I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35502936G>A" "" "VUS" "" "0000264532" "0" "30" "20" "34091058" "34091058" "subst" "0" "02330" "CEP250_000015" "g.34091058C>A" "" "" "" "CEP250(NM_007186.5):c.4861C>A (p.L1621M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35503230C>A" "" "likely benign" "" "0000264533" "0" "50" "20" "34092171" "34092171" "subst" "0.00286054" "02330" "CEP250_000016" "g.34092171C>T" "" "" "" "CEP250(NM_007186.5):c.5974C>T (p.R1992C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504343C>T" "" "VUS" "" "0000264534" "0" "50" "20" "34092235" "34092235" "subst" "4.37978E-5" "02330" "CEP250_000017" "g.34092235G>A" "" "" "" "CEP250(NM_007186.5):c.6038G>A (p.R2013Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504407G>A" "" "VUS" "" "0000264535" "0" "30" "20" "34092621" "34092621" "subst" "7.71624E-5" "02330" "CEP250_000019" "g.34092621G>T" "" "" "" "CEP250(NM_007186.5):c.6424G>T (p.D2142Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504793G>T" "" "likely benign" "" "0000264536" "0" "50" "20" "34092648" "34092659" "del" "0" "02330" "CEP250_000020" "g.34092648_34092659del" "" "" "" "CEP250(NM_007186.5):c.6451_6462delGAGCTGGAGCGG (p.E2151_R2154del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504820_35504831del" "" "VUS" "" "0000264537" "0" "30" "20" "34099360" "34099360" "subst" "8.12546E-6" "02330" "CEP250_000021" "g.34099360C>A" "" "" "" "CEP250(NM_007186.5):c.7234C>A (p.R2412S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35511531C>A" "" "likely benign" "" "0000264538" "0" "30" "20" "34057722" "34057722" "subst" "0.000101982" "02330" "CEP250_000005" "g.34057722G>A" "" "" "" "CEP250(NM_007186.5):c.859G>A (p.E287K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35469897G>A" "" "likely benign" "" "0000273204" "0" "50" "20" "34053571" "34053571" "subst" "4.91827E-5" "01943" "CEP250_000003" "g.34053571C>T" "" "" "" "CEP250(NM_007186.5):c.247C>T (p.P83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35465746C>T" "" "VUS" "" "0000273205" "0" "30" "20" "34089740" "34089740" "subst" "0.00900582" "01943" "CEP250_000012" "g.34089740G>A" "" "" "" "CEP250(NM_007186.5):c.3967G>A (p.A1323T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35501913G>A" "" "likely benign" "" "0000273206" "0" "30" "20" "34092171" "34092171" "subst" "0.00286054" "01943" "CEP250_000016" "g.34092171C>T" "" "" "" "CEP250(NM_007186.5):c.5974C>T (p.R1992C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504343C>T" "" "likely benign" "" "0000273207" "0" "50" "20" "34092315" "34092315" "subst" "0" "01943" "CEP250_000018" "g.34092315C>G" "" "" "" "CEP250(NM_007186.5):c.6118C>G (p.L2040V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504487C>G" "" "VUS" "" "0000273208" "0" "30" "20" "34055327" "34055327" "subst" "8.13564E-6" "01943" "CEP250_000004" "g.34055327G>A" "" "" "" "CEP250(NM_007186.5):c.798G>A (p.E266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35467502G>A" "" "likely benign" "" "0000344634" "0" "50" "20" "34092129" "34092129" "subst" "0" "02327" "CEP250_000023" "g.34092129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35504301C>T" "" "VUS" "" "0000346903" "0" "90" "20" "34090585" "34090586" "del" "0" "02327" "CEP250_000022" "g.34090585_34090586del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35502757_35502758del" "" "pathogenic" "" "0000358193" "3" "90" "20" "34085704" "34085704" "subst" "0" "01243" "CEP250_000024" "g.34085704C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.35497875C>T" "" "pathogenic" "" "0000469186" "3" "90" "20" "34054860" "34054860" "subst" "8.13035E-6" "03228" "CEP250_000025" "g.34054860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35467035C>T" "" "pathogenic" "" "0000569485" "0" "90" "20" "34054790" "34054790" "subst" "0.000300994" "01943" "CEP250_000026" "g.34054790G>A" "" "" "" "CEP250(NM_007186.5):c.493-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35466965G>A" "" "pathogenic" "" "0000569486" "0" "50" "20" "34055380" "34055380" "subst" "0.000277431" "01943" "CEP250_000027" "g.34055380G>A" "" "" "" "CEP250(NM_007186.5):c.851G>A (p.R284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35467555G>A" "" "VUS" "" "0000569487" "0" "50" "20" "34060560" "34060560" "subst" "4.06088E-6" "02330" "CEP250_000028" "g.34060560G>A" "" "" "" "CEP250(NM_007186.5):c.1113G>A (p.L371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35472735G>A" "" "VUS" "" "0000569488" "0" "50" "20" "34060621" "34060621" "subst" "6.49783E-5" "01943" "CEP250_000029" "g.34060621C>T" "" "" "" "CEP250(NM_007186.5):c.1174C>T (p.R392C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35472796C>T" "" "VUS" "" "0000569489" "0" "50" "20" "34067081" "34067081" "subst" "0.000337904" "01943" "CEP250_000030" "g.34067081C>T" "" "" "" "CEP250(NM_007186.5):c.2120C>T (p.T707M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35479256C>T" "" "VUS" "" "0000569490" "0" "50" "20" "34078616" "34078617" "del" "0" "02327" "CEP250_000031" "g.34078616_34078617del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35490790_35490791del" "" "VUS" "" "0000569491" "0" "50" "20" "34081286" "34081286" "subst" "0" "02327" "CEP250_000032" "g.34081286C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35493459C>T" "" "VUS" "" "0000569492" "0" "30" "20" "34084475" "34084475" "subst" "0.000450794" "01943" "CEP250_000033" "g.34084475A>G" "" "" "" "CEP250(NM_007186.5):c.3237A>G (p.Q1079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35496646A>G" "" "likely benign" "" "0000569493" "0" "10" "20" "34085622" "34085622" "subst" "0.0011303" "02330" "CEP250_000034" "g.34085622G>A" "" "" "" "CEP250(NM_007186.5):c.3381G>A (p.E1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35497793G>A" "" "benign" "" "0000569494" "0" "30" "20" "34091128" "34091128" "subst" "0" "01943" "CEP250_000035" "g.34091128G>A" "" "" "" "CEP250(NM_007186.5):c.4931G>A (p.R1644K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35503300G>A" "" "likely benign" "" "0000569495" "0" "10" "20" "34091767" "34091767" "subst" "0.00117105" "02330" "CEP250_000036" "g.34091767G>A" "" "" "" "CEP250(NM_007186.5):c.5570G>A (p.R1857H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35503939G>A" "" "benign" "" "0000569496" "0" "50" "20" "34091841" "34091841" "subst" "0" "01943" "CEP250_000037" "g.34091841G>T" "" "" "" "CEP250(NM_007186.5):c.5644G>T (p.V1882F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35504013G>T" "" "VUS" "" "0000569497" "0" "10" "20" "34092354" "34092354" "subst" "0.00102776" "02330" "CEP250_000038" "g.34092354C>T" "" "" "" "CEP250(NM_007186.5):c.6157C>T (p.H2053Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35504526C>T" "" "benign" "" "0000569498" "0" "30" "20" "34092501" "34092501" "subst" "1.21844E-5" "01943" "CEP250_000039" "g.34092501A>G" "" "" "" "CEP250(NM_007186.5):c.6304A>G (p.T2102A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35504673A>G" "" "likely benign" "" "0000569499" "0" "10" "20" "34092555" "34092555" "subst" "0.00127521" "02330" "CEP250_000040" "g.34092555A>G" "" "" "" "CEP250(NM_007186.5):c.6358A>G (p.N2120D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35504727A>G" "" "benign" "" "0000569500" "0" "30" "20" "34092810" "34092810" "subst" "1.66398E-5" "01943" "CEP250_000041" "g.34092810G>A" "" "" "" "CEP250(NM_007186.5):c.6613G>A (p.D2205N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35504982G>A" "" "likely benign" "" "0000569502" "0" "30" "20" "34096808" "34096808" "subst" "0.00189793" "02330" "CEP250_000043" "g.34096808A>G" "" "" "" "CEP250(NM_007186.5):c.6943A>G (p.M2315V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35508979A>G" "" "likely benign" "" "0000569503" "0" "50" "20" "34096808" "34096808" "subst" "0.00189793" "01943" "CEP250_000043" "g.34096808A>G" "" "" "" "CEP250(NM_007186.5):c.6943A>G (p.M2315V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35508979A>G" "" "VUS" "" "0000624148" "0" "30" "20" "34053921" "34053921" "subst" "0.000845178" "02330" "CEP250_000044" "g.34053921C>T" "" "" "" "CEP250(NM_007186.5):c.384C>T (p.D128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35466096C>T" "" "likely benign" "" "0000624149" "0" "30" "20" "34061185" "34061185" "subst" "5.49841E-5" "02330" "CEP250_000045" "g.34061185C>T" "" "" "" "CEP250(NM_007186.5):c.1210-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35473360C>T" "" "likely benign" "" "0000658747" "0" "70" "20" "34060611" "34060611" "del" "0" "02330" "CEP250_000046" "g.34060611del" "" "" "" "CEP250(NM_007186.5):c.1164delT (p.T389Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35472786del" "" "likely pathogenic" "" "0000681601" "0" "50" "20" "34053864" "34053864" "subst" "4.0659E-6" "01943" "CEP250_000047" "g.34053864G>T" "" "" "" "CEP250(NM_007186.5):c.327G>T (p.R109S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681602" "0" "90" "20" "34090236" "34090236" "subst" "0" "01943" "CEP250_000048" "g.34090236C>T" "" "" "" "CEP250(NM_007186.5):c.4039C>T (p.Q1347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681603" "0" "50" "20" "34092754" "34092754" "subst" "8.19142E-6" "01943" "CEP250_000049" "g.34092754G>T" "" "" "" "CEP250(NM_007186.5):c.6557G>T (p.S2186I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685083" "0" "90" "20" "34085704" "34085704" "subst" "0" "00004" "CEP250_000024" "g.34085704C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685636" "3" "90" "20" "34085704" "34085704" "subst" "0" "00006" "CEP250_000024" "g.34085704C>T" "" "{PMID:Khateb 2014:24780881}" "" "" "variant linked to hearing loss and RP" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685638" "3" "90" "20" "34085704" "34085704" "subst" "0" "00006" "CEP250_000024" "g.34085704C>T" "" "{PMID:Khateb 2014:24780881}" "" "" "variant linked to hearing loss and RP" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685640" "1" "90" "20" "34085704" "34085704" "subst" "0" "00006" "CEP250_000024" "g.34085704C>T" "" "{PMID:Khateb 2014:24780881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685643" "1" "90" "20" "34085704" "34085704" "subst" "0" "00006" "CEP250_000024" "g.34085704C>T" "" "{PMID:Khateb 2014:24780881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685644" "21" "90" "20" "34054860" "34054860" "subst" "8.13035E-6" "00006" "CEP250_000025" "g.34054860C>T" "" "{PMID:Kubota 2018:29718797}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685645" "11" "00" "20" "34053898" "34053898" "subst" "1.21921E-5" "00006" "CEP250_000050" "g.34053898C>T" "" "{PMID:Kubota 2018:29718797}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685646" "3" "90" "20" "34054860" "34054860" "subst" "8.13035E-6" "00006" "CEP250_000025" "g.34054860C>T" "" "{PMID:Huang 2018:29718797}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685682" "1" "70" "20" "34089779" "34089779" "subst" "2.86937E-5" "00004" "CEP250_000052" "g.34089779C>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.35501952C>T" "" "likely pathogenic (recessive)" "" "0000685722" "2" "70" "20" "34085578" "34085578" "subst" "0" "00004" "CEP250_000051" "g.34085578A>T" "" "{PMID:Fuster-Garcia 2018:30459346}" "" "" "" "Germline" "" "" "0" "" "" "g.35497749A>T" "" "likely pathogenic (recessive)" "" "0000692970" "0" "50" "20" "34092648" "34092659" "del" "0" "01943" "CEP250_000020" "g.34092648_34092659del" "" "" "" "CEP250(NM_007186.5):c.6451_6462delGAGCTGGAGCGG (p.E2151_R2154del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692971" "0" "30" "20" "34095857" "34095857" "subst" "0" "01943" "CEP250_000053" "g.34095857C>T" "" "" "" "CEP250(NM_007186.5):c.6751-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727662" "0" "50" "20" "34054843" "34054843" "subst" "1.62565E-5" "01943" "CEP250_000054" "g.34054843G>A" "" "" "" "CEP250(NM_007186.5):c.545G>A (p.R182Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727663" "0" "30" "20" "34060647" "34060647" "subst" "0" "01943" "CEP250_000055" "g.34060647G>A" "" "" "" "CEP250(NM_007186.5):c.1200G>A (p.Q400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727664" "0" "30" "20" "34065838" "34065838" "subst" "0" "01943" "CEP250_000056" "g.34065838A>G" "" "" "" "CEP250(NM_007186.5):c.2006A>G (p.Q669R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727665" "0" "50" "20" "34079058" "34079058" "subst" "0.0007789" "01943" "CEP250_000057" "g.34079058G>T" "" "" "" "CEP250(NM_007186.5):c.2775G>T (p.K925N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727666" "0" "30" "20" "34084552" "34084552" "subst" "4.95413E-5" "01943" "CEP250_000058" "g.34084552C>G" "" "" "" "CEP250(NM_007186.5):c.3306+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727667" "0" "50" "20" "34091157" "34091157" "subst" "4.06607E-6" "01943" "CEP250_000059" "g.34091157G>A" "" "" "" "CEP250(NM_007186.5):c.4960G>A (p.E1654K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727668" "0" "50" "20" "34092435" "34092435" "subst" "0" "01943" "CEP250_000060" "g.34092435C>G" "" "" "" "CEP250(NM_007186.5):c.6238C>G (p.L2080V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727669" "0" "50" "20" "34099318" "34099318" "subst" "1.2185E-5" "01943" "CEP250_000061" "g.34099318G>A" "" "" "" "CEP250(NM_007186.5):c.7192G>A (p.V2398M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809223" "0" "30" "20" "34051467" "34051467" "subst" "0" "02330" "CEP250_000062" "g.34051467C>T" "" "" "" "CEP250(NM_007186.5):c.243+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809224" "0" "50" "20" "34054825" "34054825" "subst" "2.43793E-5" "01943" "CEP250_000063" "g.34054825G>A" "" "" "" "CEP250(NM_007186.5):c.527G>A (p.R176H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809225" "0" "30" "20" "34055306" "34055306" "subst" "5.69397E-5" "01943" "CEP250_000064" "g.34055306A>G" "" "" "" "CEP250(NM_007186.5):c.777A>G (p.E259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809226" "0" "30" "20" "34061202" "34061202" "subst" "0.000135134" "01943" "CEP250_000065" "g.34061202C>T" "" "" "" "CEP250(NM_007186.5):c.1213C>T (p.L405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809227" "0" "30" "20" "34079112" "34079112" "subst" "2.60141E-5" "01943" "CEP250_000066" "g.34079112T>C" "" "" "" "CEP250(NM_007186.5):c.2829T>C (p.D943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809228" "0" "10" "20" "34089662" "34089663" "dup" "0" "02330" "CEP250_000067" "g.34089662_34089663dup" "" "" "" "CEP250(NM_007186.5):c.3902_3903insCT (p.K1301Nfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809229" "0" "10" "20" "34089679" "34089679" "subst" "0.000986168" "02330" "CEP250_000068" "g.34089679C>T" "" "" "" "CEP250(NM_007186.5):c.3906C>T (p.S1302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809230" "0" "30" "20" "34095920" "34095920" "subst" "0" "01943" "CEP250_000069" "g.34095920A>G" "" "" "" "CEP250(NM_007186.5):c.6807A>G (p.R2269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855817" "0" "30" "20" "34053890" "34053890" "subst" "0.00186961" "02330" "CEP250_000070" "g.34053890C>T" "" "" "" "CEP250(NM_007186.5):c.353C>T (p.T118I), CEP250(NM_007186.6):c.353C>T (p.(Thr118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855818" "0" "50" "20" "34061856" "34061856" "subst" "0" "01943" "CEP250_000071" "g.34061856C>T" "" "" "" "CEP250(NM_007186.5):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855819" "0" "50" "20" "34067177" "34067177" "subst" "4.06329E-6" "01943" "CEP250_000072" "g.34067177C>T" "" "" "" "CEP250(NM_007186.5):c.2216C>T (p.A739V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855820" "0" "30" "20" "34085643" "34085643" "subst" "0.000636017" "01943" "CEP250_000073" "g.34085643G>A" "" "" "" "CEP250(NM_007186.5):c.3402G>A (p.T1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855821" "0" "50" "20" "34092729" "34092729" "subst" "2.44796E-5" "01943" "CEP250_000075" "g.34092729C>T" "" "" "" "CEP250(NM_007186.5):c.6532C>T (p.L2178F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855822" "0" "30" "20" "34095911" "34095911" "subst" "4.06141E-6" "01943" "CEP250_000076" "g.34095911G>A" "" "" "" "CEP250(NM_007186.5):c.6798G>A (p.Q2266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866443" "0" "30" "20" "34085870" "34085870" "subst" "4.76541E-5" "01943" "CEP250_000011" "g.34085870C>T" "" "" "" "CEP250(NM_007186.5):c.3629C>T (p.A1210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866444" "0" "30" "20" "34091987" "34091987" "subst" "1.22344E-5" "02330" "CEP250_000074" "g.34091987G>A" "" "" "" "CEP250(NM_007186.5):c.5790G>A (p.Q1930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895288" "0" "30" "20" "34061743" "34061743" "subst" "3.27493E-5" "02330" "CEP250_000077" "g.34061743G>A" "" "" "" "CEP250(NM_007186.5):c.1437G>A (p.L479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895289" "0" "30" "20" "34085538" "34085538" "subst" "7.0081E-5" "02330" "CEP250_000078" "g.34085538T>C" "" "" "" "CEP250(NM_007186.5):c.3307-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905940" "0" "50" "20" "34054790" "34054790" "subst" "0.000300994" "00000" "CEP250_000026" "g.34054790G>A" "" "{PMID:Zhu 2022:35456422}" "" "CEP250 c.493-1G>A, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.35466965G>A" "" "VUS" "ACMG" "0000915363" "0" "30" "20" "34055306" "34055306" "subst" "5.69397E-5" "02330" "CEP250_000064" "g.34055306A>G" "" "" "" "CEP250(NM_007186.5):c.777A>G (p.E259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915364" "0" "30" "20" "34092047" "34092047" "subst" "3.83736E-5" "02330" "CEP250_000079" "g.34092047G>A" "" "" "" "CEP250(NM_007186.5):c.5850G>A (p.Q1950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915365" "0" "30" "20" "34092347" "34092347" "subst" "0.000795561" "02330" "CEP250_000080" "g.34092347G>A" "" "" "" "CEP250(NM_007186.5):c.6150G>A (p.E2050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917873" "1" "90" "20" "34067896" "34067896" "del" "4.06702E-6" "00006" "CEP250_000081" "g.34067896del" "" "{PMID:Igelman 2021:34223797}" "" "c.2512delC" "" "Germline" "" "" "0" "" "" "g.35480071del" "" "pathogenic (recessive)" "" "0000917874" "3" "90" "20" "34092156" "34092156" "subst" "0.000308488" "00006" "CEP250_000083" "g.34092156C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.35504328C>T" "" "pathogenic (recessive)" "" "0000917875" "3" "90" "20" "34092156" "34092156" "subst" "0.000308488" "00006" "CEP250_000083" "g.34092156C>T" "" "{PMID:Igelman 2021:34223797}" "" "" "" "Germline" "" "" "0" "" "" "g.35504328C>T" "" "pathogenic (recessive)" "" "0000917888" "2" "90" "20" "34091776" "34091777" "dup" "0" "00006" "CEP250_000082" "g.34091776_34091777dup" "" "{PMID:Igelman 2021:34223797}" "" "c.5579_5580dupAG" "" "Germline" "" "" "0" "" "" "g.35503946_35503949dup" "" "pathogenic (recessive)" "" "0000926992" "0" "30" "20" "34064384" "34064384" "subst" "0.0015414" "02330" "CEP250_000084" "g.34064384G>A" "" "" "" "CEP250(NM_007186.5):c.1827G>A (p.A609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951429" "0" "30" "20" "34059983" "34059983" "subst" "4.06369E-6" "02330" "CEP250_000085" "g.34059983G>A" "" "" "" "CEP250(NM_007186.5):c.1050+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951430" "0" "30" "20" "34091063" "34091063" "subst" "0" "02330" "CEP250_000086" "g.34091063A>G" "" "" "" "CEP250(NM_007186.5):c.4866A>G (p.A1622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958754" "3" "90" "20" "34089779" "34089779" "subst" "2.86937E-5" "00006" "CEP250_000052" "g.34089779C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.35501952C>T" "" "pathogenic (recessive)" "ACMG" "0000970133" "0" "30" "20" "34067910" "34067910" "subst" "0" "02330" "CEP250_000087" "g.34067910T>G" "" "" "" "CEP250(NM_007186.5):c.2526T>G (p.T842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987302" "0" "70" "20" "34084511" "34084527" "del" "0" "00006" "CEP250_000088" "g.34084511_34084527del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.35496682_35496698del" "" "likely pathogenic" "ACMG" "0001043327" "0" "30" "20" "34053890" "34053890" "subst" "0.00186961" "01804" "CEP250_000070" "g.34053890C>T" "" "" "" "CEP250(NM_007186.5):c.353C>T (p.T118I), CEP250(NM_007186.6):c.353C>T (p.(Thr118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043328" "0" "30" "20" "34091995" "34091995" "subst" "0.000710361" "01804" "CEP250_000089" "g.34091995C>T" "" "" "" "CEP250(NM_007186.6):c.5798C>T (p.(Ala1933Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CEP250 ## Count = 106 "{{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}}" "0000079050" "00005003" "90" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719*)" "" "0000170931" "00005003" "70" "1826" "0" "1826" "0" "c.1826C>T" "r.(?)" "p.(Ala609Val)" "16" "0000247660" "00005003" "10" "936" "0" "936" "0" "c.936A>G" "r.(?)" "p.(Thr312=)" "" "0000247668" "00005003" "30" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Thr896Ala)" "" "0000254150" "00005003" "30" "936" "0" "936" "0" "c.936A>G" "r.(?)" "p.(Thr312=)" "" "0000264525" "00005003" "30" "1001" "0" "1001" "0" "c.1001C>T" "r.(?)" "p.(Ala334Val)" "" "0000264526" "00005003" "50" "1256" "0" "1256" "0" "c.1256T>G" "r.(?)" "p.(Leu419Trp)" "" "0000264527" "00005003" "10" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560Lys)" "" "0000264528" "00005003" "10" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Ala1210Val)" "" "0000264529" "00005003" "10" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Ala1323Thr)" "" "0000264530" "00005003" "10" "4365" "0" "4365" "0" "c.4365G>A" "r.(?)" "p.(Lys1455=)" "" "0000264531" "00005003" "50" "4567" "0" "4567" "0" "c.4567G>A" "r.(?)" "p.(Val1523Ile)" "" "0000264532" "00005003" "30" "4861" "0" "4861" "0" "c.4861C>A" "r.(?)" "p.(Leu1621Met)" "" "0000264533" "00005003" "50" "5974" "0" "5974" "0" "c.5974C>T" "r.(?)" "p.(Arg1992Cys)" "" "0000264534" "00005003" "50" "6038" "0" "6038" "0" "c.6038G>A" "r.(?)" "p.(Arg2013Gln)" "" "0000264535" "00005003" "30" "6424" "0" "6424" "0" "c.6424G>T" "r.(?)" "p.(Asp2142Tyr)" "" "0000264536" "00005003" "50" "6451" "0" "6462" "0" "c.6451_6462del" "r.(?)" "p.(Glu2151_Arg2154del)" "" "0000264537" "00005003" "30" "7234" "0" "7234" "0" "c.7234C>A" "r.(?)" "p.(Arg2412Ser)" "" "0000264538" "00005003" "30" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Glu287Lys)" "" "0000273204" "00005003" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Pro83Ser)" "" "0000273205" "00005003" "30" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Ala1323Thr)" "" "0000273206" "00005003" "30" "5974" "0" "5974" "0" "c.5974C>T" "r.(?)" "p.(Arg1992Cys)" "" "0000273207" "00005003" "50" "6118" "0" "6118" "0" "c.6118C>G" "r.(?)" "p.(Leu2040Val)" "" "0000273208" "00005003" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Glu266=)" "" "0000344634" "00005003" "50" "5932" "0" "5932" "0" "c.5932C>T" "r.(?)" "p.(Gln1978Ter)" "" "0000346903" "00005003" "90" "4388" "0" "4389" "0" "c.4388_4389del" "r.(?)" "p.(Leu1463ArgfsTer23)" "" "0000358193" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "26" "0000469186" "00005003" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188*)" "" "0000569485" "00005003" "90" "493" "-1" "493" "-1" "c.493-1G>A" "r.spl?" "p.?" "" "0000569486" "00005003" "50" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Arg284Gln)" "" "0000569487" "00005003" "50" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Leu371=)" "" "0000569488" "00005003" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Cys)" "" "0000569489" "00005003" "50" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Thr707Met)" "" "0000569490" "00005003" "50" "2740" "0" "2741" "0" "c.2740_2741del" "r.(?)" "p.(Ser914CysfsTer76)" "" "0000569491" "00005003" "50" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Gln974Ter)" "" "0000569492" "00005003" "30" "3237" "0" "3237" "0" "c.3237A>G" "r.(?)" "p.(Gln1079=)" "" "0000569493" "00005003" "10" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(Glu1127=)" "" "0000569494" "00005003" "30" "4931" "0" "4931" "0" "c.4931G>A" "r.(?)" "p.(Arg1644Lys)" "" "0000569495" "00005003" "10" "5570" "0" "5570" "0" "c.5570G>A" "r.(?)" "p.(Arg1857His)" "" "0000569496" "00005003" "50" "5644" "0" "5644" "0" "c.5644G>T" "r.(?)" "p.(Val1882Phe)" "" "0000569497" "00005003" "10" "6157" "0" "6157" "0" "c.6157C>T" "r.(?)" "p.(His2053Tyr)" "" "0000569498" "00005003" "30" "6304" "0" "6304" "0" "c.6304A>G" "r.(?)" "p.(Thr2102Ala)" "" "0000569499" "00005003" "10" "6358" "0" "6358" "0" "c.6358A>G" "r.(?)" "p.(Asn2120Asp)" "" "0000569500" "00005003" "30" "6613" "0" "6613" "0" "c.6613G>A" "r.(?)" "p.(Asp2205Asn)" "" "0000569502" "00005003" "30" "6943" "0" "6943" "0" "c.6943A>G" "r.(?)" "p.(Met2315Val)" "" "0000569503" "00005003" "50" "6943" "0" "6943" "0" "c.6943A>G" "r.(?)" "p.(Met2315Val)" "" "0000624148" "00005003" "30" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Asp128=)" "" "0000624149" "00005003" "30" "1210" "-14" "1210" "-14" "c.1210-14C>T" "r.(=)" "p.(=)" "" "0000658747" "00005003" "70" "1164" "0" "1164" "0" "c.1164del" "r.(?)" "p.(Thr389LeufsTer7)" "" "0000681601" "00005003" "50" "327" "0" "327" "0" "c.327G>T" "r.(?)" "p.(Arg109Ser)" "" "0000681602" "00005003" "90" "4039" "0" "4039" "0" "c.4039C>T" "r.(?)" "p.(Gln1347Ter)" "" "0000681603" "00005003" "50" "6557" "0" "6557" "0" "c.6557G>T" "r.(?)" "p.(Ser2186Ile)" "" "0000685083" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "" "0000685636" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "" "0000685638" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "" "0000685640" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "" "0000685643" "00005003" "90" "3463" "0" "3463" "0" "c.3463C>T" "r.(?)" "p.(Arg1155*)" "" "0000685644" "00005003" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188*)" "" "0000685645" "00005003" "00" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" "" "0000685646" "00005003" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188*)" "" "0000685682" "00005003" "70" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336*)" "" "0000685722" "00005003" "70" "3337" "0" "3337" "0" "c.3337A>T" "r.(?)" "p.(Lys1113*)" "" "0000692970" "00005003" "50" "6451" "0" "6462" "0" "c.6451_6462del" "r.(?)" "p.(Glu2151_Arg2154del)" "" "0000692971" "00005003" "30" "6751" "-7" "6751" "-7" "c.6751-7C>T" "r.(=)" "p.(=)" "" "0000727662" "00005003" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182Gln)" "" "0000727663" "00005003" "30" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Gln400=)" "" "0000727664" "00005003" "30" "2006" "0" "2006" "0" "c.2006A>G" "r.(?)" "p.(Gln669Arg)" "" "0000727665" "00005003" "50" "2775" "0" "2775" "0" "c.2775G>T" "r.(?)" "p.(Lys925Asn)" "" "0000727666" "00005003" "30" "3306" "8" "3306" "8" "c.3306+8C>G" "r.(=)" "p.(=)" "" "0000727667" "00005003" "50" "4960" "0" "4960" "0" "c.4960G>A" "r.(?)" "p.(Glu1654Lys)" "" "0000727668" "00005003" "50" "6238" "0" "6238" "0" "c.6238C>G" "r.(?)" "p.(Leu2080Val)" "" "0000727669" "00005003" "50" "7192" "0" "7192" "0" "c.7192G>A" "r.(?)" "p.(Val2398Met)" "" "0000809223" "00005003" "30" "243" "11" "243" "11" "c.243+11C>T" "r.(=)" "p.(=)" "" "0000809224" "00005003" "50" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176His)" "" "0000809225" "00005003" "30" "777" "0" "777" "0" "c.777A>G" "r.(?)" "p.(Glu259=)" "" "0000809226" "00005003" "30" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Leu405=)" "" "0000809227" "00005003" "30" "2829" "0" "2829" "0" "c.2829T>C" "r.(?)" "p.(Asp943=)" "" "0000809228" "00005003" "10" "3899" "-10" "3899" "-9" "c.3899-10_3899-9dup" "r.(=)" "p.(=)" "" "0000809229" "00005003" "10" "3906" "0" "3906" "0" "c.3906C>T" "r.(?)" "p.(Ser1302=)" "" "0000809230" "00005003" "30" "6807" "0" "6807" "0" "c.6807A>G" "r.(?)" "p.(Arg2269=)" "" "0000855817" "00005003" "30" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Ile)" "" "0000855818" "00005003" "50" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ala517Val)" "" "0000855819" "00005003" "50" "2216" "0" "2216" "0" "c.2216C>T" "r.(?)" "p.(Ala739Val)" "" "0000855820" "00005003" "30" "3402" "0" "3402" "0" "c.3402G>A" "r.(?)" "p.(Thr1134=)" "" "0000855821" "00005003" "50" "6532" "0" "6532" "0" "c.6532C>T" "r.(?)" "p.(Leu2178Phe)" "" "0000855822" "00005003" "30" "6798" "0" "6798" "0" "c.6798G>A" "r.(?)" "p.(Gln2266=)" "" "0000866443" "00005003" "30" "3629" "0" "3629" "0" "c.3629C>T" "r.(?)" "p.(Ala1210Val)" "" "0000866444" "00005003" "30" "5790" "0" "5790" "0" "c.5790G>A" "r.(?)" "p.(Gln1930=)" "" "0000895288" "00005003" "30" "1437" "0" "1437" "0" "c.1437G>A" "r.(?)" "p.(Leu479=)" "" "0000895289" "00005003" "30" "3307" "-10" "3307" "-10" "c.3307-10T>C" "r.(=)" "p.(=)" "" "0000905940" "00005003" "50" "493" "-1" "493" "-1" "c.493-1G>A" "r.spl" "p.?" "" "0000915363" "00005003" "30" "777" "0" "777" "0" "c.777A>G" "r.(?)" "p.(Glu259=)" "" "0000915364" "00005003" "30" "5850" "0" "5850" "0" "c.5850G>A" "r.(?)" "p.(Gln1950=)" "" "0000915365" "00005003" "30" "6150" "0" "6150" "0" "c.6150G>A" "r.(?)" "p.(Glu2050=)" "" "0000917873" "00005003" "90" "2512" "0" "2512" "0" "c.2512del" "r.(?)" "p.(Gln838LysfsTer18)" "" "0000917874" "00005003" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" "" "0000917875" "00005003" "90" "5959" "0" "5959" "0" "c.5959C>T" "r.(?)" "p.(Gln1987Ter)" "" "0000917888" "00005003" "90" "5579" "0" "5580" "0" "c.5579_5580dup" "r.(?)" "p.(Leu1861SerfsTer33)" "" "0000926992" "00005003" "30" "1827" "0" "1827" "0" "c.1827G>A" "r.(?)" "p.(Ala609=)" "" "0000951429" "00005003" "30" "1050" "7" "1050" "7" "c.1050+7G>A" "r.(=)" "p.(=)" "" "0000951430" "00005003" "30" "4866" "0" "4866" "0" "c.4866A>G" "r.(?)" "p.(=)" "" "0000958754" "00005003" "90" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336Ter)" "" "0000970133" "00005003" "30" "2526" "0" "2526" "0" "c.2526T>G" "r.(?)" "p.(=)" "" "0000987302" "00005003" "70" "3273" "0" "3289" "0" "c.3273_3289del" "r.(?)" "p.(Ala1092ArgfsTer19)" "" "0001043327" "00005003" "30" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Thr118Ile)" "" "0001043328" "00005003" "30" "5798" "0" "5798" "0" "c.5798C>T" "r.(?)" "p.(Ala1933Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000050098" "0000079050" "0000105496" "0000170931" "0000156271" "0000358193" "0000228923" "0000469186" "0000310172" "0000685083" "0000310694" "0000685636" "0000310695" "0000685638" "0000310696" "0000685640" "0000310697" "0000685643" "0000310698" "0000685644" "0000310698" "0000685645" "0000310699" "0000685646" "0000310734" "0000685682" "0000310734" "0000685722" "0000428250" "0000905940" "0000432406" "0000917873" "0000432406" "0000917888" "0000432407" "0000917874" "0000432408" "0000917875" "0000448987" "0000958754" "0000452644" "0000987302"