### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CENPJ) # 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}}" "CENPJ" "centromere protein J" "13" "q12.12" "unknown" "NG_009165.2" "UD_132119037884" "" "https://www.LOVD.nl/CENPJ" "" "1" "17272" "55835" "609279" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CENPJ_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2017-01-08 11:47:36" "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}}" "00000108" "CENPJ" "centromere protein J" "001" "NM_018451.3" "" "NP_060921.3" "" "" "" "-253" "4920" "4017" "25497085" "25456412" "00002" "2012-05-11 13:12:07" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00126" "SCKL" "Seckel syndrome (SCKL)" "" "" "" "" "" "00006" "2013-05-07 07:32:22" "00006" "2023-03-14 15:38:11" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "00273" "SCKL4" "Seckel syndrome, type 4 (SCKL-4)" "AR" "613676" "" "" "" "00006" "2013-11-22 15:18:18" "00006" "2021-12-10 21:51:32" "00709" "MCPH6" "microcephaly, type 6, primary, autosomal recessive (MCPH-6)" "AR" "608393" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CENPJ" "00126" "CENPJ" "00139" "CENPJ" "00273" "CENPJ" "00709" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00095095" "" "" "" "1" "" "01586" "" "" "" "no" "" "" "0" "" "" "" "" "00290864" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290865" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290866" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290867" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290868" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295358" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308741" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00361620" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1883" "00418892" "" "" "" "1" "" "03972" "" "" "" "" "" "" "" "" "" "" "" "00431890" "" "" "" "1" "" "01602" "" "" "F" "" "Switzerland" "00y06m" "" "" "" "Europe" "SIDS235" "00433740" "" "" "" "2" "" "00006" "{PMID:Darvish 2010:20978018}" "family, 2 affected" "" "yes" "Iran" "" "0" "" "" "" "M-238" "00433779" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP21" "00433780" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP22" "00433781" "" "" "" "1" "" "00006" "{PMID:Sajid Hussain 2013:22775483}" "family, 1 affected" "" "" "Pakistan" "" "0" "" "" "" "MCP24" "00433895" "" "" "" "3" "" "00006" "{PMID:Kraemer 2016:26548919}" "family, 3 affected" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC7PatIV1" "00433896" "" "" "00433895" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC7PatIV2" "00433897" "" "" "00433895" "1" "" "00006" "{PMID:Kraemer 2016:26548919}" "sib" "" "yes" "Pakistan" "" "0" "" "" "" "FamMC7PatIV3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00095095" "00709" "00290864" "00198" "00290865" "00198" "00290866" "00198" "00290867" "00198" "00290868" "00198" "00295358" "00198" "00308741" "00000" "00361620" "00139" "00418892" "05421" "00431890" "02087" "00433740" "05421" "00433779" "05421" "00433780" "05421" "00433781" "05421" "00433895" "05421" "00433896" "05421" "00433897" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00126, 00138, 00139, 00198, 00273, 00709, 02087, 05330, 05378, 05421 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000073489" "00709" "00095095" "01586" "Familial, autosomal recessive" "" "Congenital microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000257025" "00139" "00361620" "00006" "Familial, autosomal recessive" "5y2m" "not syndromic; global developmental delay, Microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000322459" "02087" "00431890" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324162" "05421" "00433740" "00006" "Familial, autosomal recessive" "" "severe intellectual disability; microcephaly (OFC -4 to -6SD); facial dysmorphism (mall ears, hypertelorism, notched nasal tip, strabismus), developmental delay; joint stiffness (ankles); wheelchair bound; pectus incarnatum; finger deformities; seizure" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324201" "05421" "00433779" "00006" "Familial, autosomal recessive" "" "microcephaly; unable to speak/read/write" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324202" "05421" "00433780" "00006" "Familial, autosomal recessive" "" "microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324203" "05421" "00433781" "00006" "Familial, autosomal recessive" "" "microcephaly; friendly behavior, partial self-caring ability, no history of epileptic seizure, no reading/writing skills" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324273" "05421" "00433895" "00006" "Familial, autosomal recessive" "15y" "microcephaly, OFC 43.18cm (SD-7,88); mild intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324274" "05421" "00433896" "00006" "Familial, autosomal recessive" "20y" "microcephaly, OFC 43.18cm (SD-9,35); severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" "0000324275" "05421" "00433897" "00006" "Familial, autosomal recessive" "18y" "microcephaly, OFC 45.7cm (SD-7,48); severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "MCPH6" "microcephaly" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000095494" "00095095" "1" "01586" "01586" "2017-01-06 11:24:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000292032" "00290864" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292033" "00290865" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292034" "00290866" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292035" "00290867" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292036" "00290868" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296526" "00295358" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309886" "00308741" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000362848" "00361620" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000420189" "00418892" "1" "03972" "03972" "2022-10-11 16:35:49" "" "" "SEQ-NG" "DNA" "" "" "0000433331" "00431890" "1" "01602" "01602" "2023-02-17 15:47:29" "" "" "SEQ-NG" "DNA" "" "" "0000435198" "00433740" "1" "00006" "00006" "2023-03-13 19:58:30" "" "" "SEQ" "DNA" "" "" "0000435241" "00433779" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435242" "00433780" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435243" "00433781" "1" "00006" "00006" "2023-03-14 15:45:46" "" "" "SEQ" "DNA" "" "" "0000435358" "00433895" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435359" "00433896" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" "0000435360" "00433897" "1" "00006" "00006" "2023-03-15 20:03:42" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000309886" "CENPJ" "0000362848" "CENPJ" "0000420189" "CENPJ" "0000435198" "CENPJ" "0000435241" "CENPJ" "0000435242" "CENPJ" "0000435243" "CENPJ" "0000435358" "CENPJ" "0000435359" "CENPJ" "0000435360" "CENPJ" ## 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 = 150 "{{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}}" "0000000422" "0" "50" "13" "25458236" "25458238" "del" "0" "00002" "CENPJ_000001" "g.25458236_25458238del" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "" "" "" "g.24884098_24884100del" "" "VUS" "" "0000154056" "21" "90" "13" "25487139" "25487139" "subst" "0" "01586" "CENPJ_000003" "g.25487139C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24913001C>A" "" "pathogenic" "" "0000154057" "11" "90" "13" "25473637" "25473637" "subst" "0" "01586" "CENPJ_000002" "g.25473637G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24899499G>A" "" "pathogenic" "" "0000249186" "0" "10" "13" "25460428" "25460428" "subst" "0" "02325" "CENPJ_000013" "g.25460428A>G" "" "" "" "CENPJ(NR_047594.2):n.3564T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24886290A>G" "" "benign" "" "0000253692" "0" "10" "13" "25479541" "25479541" "subst" "0.110544" "01943" "CENPJ_000065" "g.25479541A>C" "" "" "" "CENPJ(NM_018451.4):c.2635T>G (p.S879A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905403A>C" "" "benign" "" "0000253870" "0" "10" "13" "25466759" "25466759" "subst" "0" "01943" "CENPJ_000014" "g.25466759A>C" "" "" "" "CENPJ(NM_018451.4):c.3216+22T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892621A>C" "" "benign" "" "0000253871" "0" "10" "13" "25466763" "25466763" "subst" "0" "01943" "CENPJ_000015" "g.25466763A>C" "" "" "" "CENPJ(NM_018451.4):c.3216+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892625A>C" "" "benign" "" "0000254291" "0" "30" "13" "25481027" "25481027" "subst" "0" "01943" "CENPJ_000041" "g.25481027A>C" "" "" "" "CENPJ(NM_018451.4):c.1149T>G (p.A383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906889A>C" "" "likely benign" "" "0000254477" "0" "30" "13" "25486859" "25486859" "subst" "4.06068E-6" "01943" "CENPJ_000053" "g.25486859A>T" "" "" "" "CENPJ(NM_018451.4):c.305T>A (p.I102N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912721A>T" "" "likely benign" "" "0000256663" "0" "50" "13" "25481285" "25481285" "subst" "0.00148772" "01943" "CENPJ_000067" "g.25481285A>C" "" "" "" "CENPJ(NM_018451.4):c.1021T>G (p.Y341D, p.(Tyr341Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24907147A>C" "" "VUS" "" "0000266654" "0" "50" "13" "25481094" "25481094" "subst" "1.22699E-5" "02325" "CENPJ_000042" "g.25481094G>A" "" "" "" "CENPJ(NM_018451.5):c.1082C>T (p.A361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906956G>A" "" "VUS" "" "0000266655" "0" "30" "13" "25480285" "25480285" "subst" "0" "02325" "CENPJ_000029" "g.25480285T>C" "" "" "" "CENPJ(NM_018451.5):c.1891A>G (p.I631V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906147T>C" "" "likely benign" "" "0000266656" "0" "10" "13" "25466955" "25466955" "subst" "0.549449" "02325" "CENPJ_000018" "g.25466955T>C" "" "" "" "CENPJ(NM_018451.4):c.3042A>G (p.E1014=), CENPJ(NM_018451.5):c.3042A>G (p.E1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892817T>C" "" "benign" "" "0000266657" "0" "10" "13" "25466774" "25466774" "subst" "0.808956" "02325" "CENPJ_000016" "g.25466774T>C" "" "" "" "CENPJ(NM_018451.4):c.3216+7A>G, CENPJ(NM_018451.5):c.3216+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892636T>C" "" "benign" "" "0000266658" "0" "10" "13" "25458236" "25458238" "del" "0" "02325" "CENPJ_000008" "g.25458236_25458238del" "" "" "" "CENPJ(NM_018451.4):c.3704-14_3704-12delAAC, CENPJ(NM_018451.5):c.3704-14_3704-12delAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24884098_24884100del" "" "benign" "" "0000273103" "0" "50" "13" "25480954" "25480954" "subst" "8.53312E-5" "01943" "CENPJ_000040" "g.25480954C>T" "" "" "" "CENPJ(NM_018451.4):c.1222G>A (p.E408K, p.(Glu408Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906816C>T" "" "VUS" "" "0000273104" "0" "50" "13" "25480913" "25480913" "subst" "0.000154384" "01943" "CENPJ_000039" "g.25480913C>G" "" "" "" "CENPJ(NM_018451.4):c.1263G>C (p.Q421H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906775C>G" "" "VUS" "" "0000273105" "0" "30" "13" "25480663" "25480663" "subst" "0.000369913" "01943" "CENPJ_000036" "g.25480663C>T" "" "" "" "CENPJ(NM_018451.4):c.1513G>A (p.E505K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906525C>T" "" "likely benign" "" "0000273106" "0" "10" "13" "25480616" "25480616" "subst" "0.0114554" "01943" "CENPJ_000035" "g.25480616T>A" "" "" "" "CENPJ(NM_018451.4):c.1560A>T (p.T520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906478T>A" "" "benign" "" "0000273107" "0" "10" "13" "25487001" "25487001" "subst" "0.00663785" "01943" "CENPJ_000059" "g.25487001G>C" "" "" "" "CENPJ(NM_018451.4):c.163C>G (p.P55A, p.(Pro55Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912863G>C" "" "benign" "" "0000273108" "0" "50" "13" "25480427" "25480427" "subst" "3.85697E-5" "01943" "CENPJ_000032" "g.25480427T>G" "" "" "" "CENPJ(NM_018451.4):c.1749A>C (p.Q583H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906289T>G" "" "VUS" "" "0000273109" "0" "90" "13" "25480370" "25480373" "del" "0" "01943" "CENPJ_000031" "g.25480370_25480373del" "" "" "" "CENPJ(NM_018451.4):c.1805_1808delAAAG (p.E602Gfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906232_24906235del" "" "pathogenic" "" "0000273110" "0" "10" "13" "25486977" "25486977" "subst" "0.00530878" "01943" "CENPJ_000058" "g.25486977C>G" "" "" "" "CENPJ(NM_018451.4):c.187G>C (p.D63H, p.(Asp63His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912839C>G" "" "benign" "" "0000273111" "0" "30" "13" "25480295" "25480295" "subst" "0.0368163" "01943" "CENPJ_000030" "g.25480295C>T" "" "" "" "CENPJ(NM_018451.4):c.1881G>A (p.P627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906157C>T" "" "likely benign" "" "0000273112" "0" "10" "13" "25480145" "25480145" "subst" "0.0144257" "01943" "CENPJ_000028" "g.25480145G>A" "" "" "" "CENPJ(NM_018451.4):c.2031C>T (p.A677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906007G>A" "" "benign" "" "0000273113" "0" "50" "13" "25480102" "25480102" "subst" "3.25029E-5" "01943" "CENPJ_000027" "g.25480102G>A" "" "" "" "CENPJ(NM_018451.4):c.2074C>T (p.R692C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905964G>A" "" "VUS" "" "0000273114" "0" "50" "13" "25480094" "25480096" "del" "0" "01943" "CENPJ_000026" "g.25480094_25480096del" "" "" "" "CENPJ(NM_018451.4):c.2082_2084delTGA (p.D694del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905956_24905958del" "" "VUS" "" "0000273115" "0" "50" "13" "25480084" "25480084" "subst" "0" "01943" "CENPJ_000025" "g.25480084G>A" "" "" "" "CENPJ(NM_018451.4):c.2092C>T (p.P698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905946G>A" "" "VUS" "" "0000273116" "0" "50" "13" "25479747" "25479747" "subst" "4.06147E-6" "01943" "CENPJ_000024" "g.25479747T>A" "" "" "" "CENPJ(NM_018451.4):c.2429A>T (p.D810V), CENPJ(NM_018451.5):c.2429A>T (p.(Asp810Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905609T>A" "" "VUS" "" "0000273117" "0" "50" "13" "25479714" "25479714" "subst" "0.00142588" "01943" "CENPJ_000023" "g.25479714G>A" "" "" "" "CENPJ(NM_018451.4):c.2462C>T (p.T821M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905576G>A" "" "VUS" "" "0000273118" "0" "50" "13" "25479676" "25479676" "subst" "0.000109681" "01943" "CENPJ_000022" "g.25479676G>A" "" "" "" "CENPJ(NM_018451.4):c.2500C>T (p.L834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905538G>A" "" "VUS" "" "0000273119" "0" "10" "13" "25486877" "25486877" "subst" "0.00325661" "01943" "CENPJ_000056" "g.25486877T>C" "" "" "" "CENPJ(NM_018451.4):c.287A>G (p.H96R, p.(His96Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912739T>C" "" "benign" "" "0000273121" "0" "10" "13" "25467023" "25467025" "del" "0" "01943" "CENPJ_000020" "g.25467023_25467025del" "" "" "" "CENPJ(NM_018451.4):c.2992-18_2992-16delGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892885_24892887del" "" "benign" "" "0000273123" "0" "10" "13" "25466955" "25466955" "subst" "0.549449" "01943" "CENPJ_000018" "g.25466955T>C" "" "" "" "CENPJ(NM_018451.4):c.3042A>G (p.E1014=), CENPJ(NM_018451.5):c.3042A>G (p.E1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892817T>C" "" "benign" "" "0000273124" "0" "10" "13" "25466774" "25466774" "subst" "0.808956" "01943" "CENPJ_000016" "g.25466774T>C" "" "" "" "CENPJ(NM_018451.4):c.3216+7A>G, CENPJ(NM_018451.5):c.3216+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892636T>C" "" "benign" "" "0000273125" "0" "50" "13" "25458485" "25458485" "subst" "0" "01943" "CENPJ_000010" "g.25458485C>G" "" "" "" "CENPJ(NM_018451.4):c.3594G>C (p.K1198N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24884347C>G" "" "VUS" "" "0000273126" "0" "30" "13" "25458395" "25458395" "subst" "0.000199007" "01943" "CENPJ_000009" "g.25458395C>A" "" "" "" "CENPJ(NM_018451.4):c.3619-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24884257C>A" "" "likely benign" "" "0000273127" "0" "10" "13" "25458236" "25458238" "del" "0" "01943" "CENPJ_000001" "g.25458236_25458238del" "" "" "" "CENPJ(NM_018451.4):c.3704-14_3704-12delAAC, CENPJ(NM_018451.5):c.3704-14_3704-12delAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24884098_24884100del" "" "benign" "" "0000273128" "0" "50" "13" "25457412" "25457412" "subst" "0.000487393" "01943" "CENPJ_000007" "g.25457412G>A" "" "" "" "CENPJ(NM_018451.4):c.3920C>T (p.T1307I, p.(Thr1307Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24883274G>A" "" "VUS" "" "0000273129" "0" "50" "13" "25457410" "25457410" "subst" "0.000682383" "01943" "CENPJ_000006" "g.25457410C>T" "" "" "" "CENPJ(NM_018451.4):c.3922G>A (p.V1308I, p.(Val1308Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24883272C>T" "" "VUS" "" "0000273130" "0" "30" "13" "25457384" "25457384" "subst" "0.000251848" "01943" "CENPJ_000005" "g.25457384C>T" "" "" "" "CENPJ(NM_018451.4):c.3948G>A (p.T1316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24883246C>T" "" "likely benign" "" "0000273131" "0" "30" "13" "25457372" "25457372" "subst" "0.000637771" "01943" "CENPJ_000004" "g.25457372G>A" "" "" "" "CENPJ(NM_018451.4):c.3960C>T (p.S1320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24883234G>A" "" "likely benign" "" "0000273132" "0" "10" "13" "25487103" "25487103" "subst" "0.147884" "01943" "CENPJ_000061" "g.25487103T>C" "" "" "" "CENPJ(NM_018451.4):c.61A>G (p.M21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912965T>C" "" "benign" "" "0000273133" "0" "30" "13" "25484171" "25484171" "subst" "9.75245E-5" "01943" "CENPJ_000049" "g.25484171T>C" "" "" "" "CENPJ(NM_018451.4):c.622A>G (p.T208A, p.(Thr208Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24910033T>C" "" "likely benign" "" "0000273134" "0" "50" "13" "25484101" "25484101" "subst" "4.06154E-6" "01943" "CENPJ_000048" "g.25484101G>A" "" "" "" "CENPJ(NM_018451.4):c.692C>T (p.T231I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24909963G>A" "" "VUS" "" "0000323268" "0" "50" "13" "25473675" "25473675" "subst" "8.13464E-6" "01804" "CENPJ_000021" "g.25473675C>T" "" "" "" "CENPJ(NM_018451.4):c.2873G>A (p.(Arg958Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24899537C>T" "" "VUS" "" "0000323269" "0" "30" "13" "25479747" "25479747" "subst" "4.06147E-6" "01804" "CENPJ_000024" "g.25479747T>A" "" "" "" "CENPJ(NM_018451.4):c.2429A>T (p.D810V), CENPJ(NM_018451.5):c.2429A>T (p.(Asp810Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905609T>A" "" "likely benign" "" "0000323270" "0" "70" "13" "25480432" "25480432" "subst" "0" "01804" "CENPJ_000033" "g.25480432C>A" "" "" "" "CENPJ(NM_018451.4):c.1744G>T (p.E582*, p.(Glu582*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906294C>A" "" "likely pathogenic" "" "0000323272" "0" "30" "13" "25480768" "25480768" "subst" "0" "01804" "CENPJ_000037" "g.25480768G>C" "" "" "" "CENPJ(NM_018451.4):c.1408C>G (p.(Pro470Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906630G>C" "" "likely benign" "" "0000323275" "0" "50" "13" "25483934" "25483934" "subst" "8.26822E-6" "01804" "CENPJ_000044" "g.25483934G>T" "" "" "" "CENPJ(NM_018451.4):c.859C>A (p.(Pro287Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24909796G>T" "" "VUS" "" "0000323276" "0" "30" "13" "25484007" "25484010" "del" "0" "01804" "CENPJ_000045" "g.25484007_25484010del" "" "" "" "CENPJ(NM_018451.4):c.784_787del (p.(Asn262Tyrfs*17)), CENPJ(NM_018451.5):c.784_787delAATT (p.N262Yfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24909869_24909872del" "" "likely benign" "" "0000323277" "0" "50" "13" "25484007" "25484015" "del" "0" "01804" "CENPJ_000046" "g.25484007_25484015del" "" "" "" "CENPJ(NM_018451.4):c.779_787del (p.(Ser260_Asn262del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24909869_24909877del" "" "VUS" "" "0000323279" "0" "50" "13" "25484214" "25484214" "subst" "7.3497E-5" "01804" "CENPJ_000050" "g.25484214T>G" "" "" "" "CENPJ(NM_018451.4):c.579A>C (p.(Leu193Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24910076T>G" "" "VUS" "" "0000323280" "0" "50" "13" "25486775" "25486775" "subst" "2.44089E-5" "01804" "CENPJ_000051" "g.25486775G>A" "" "" "" "CENPJ(NM_018451.4):c.389C>T (p.(Ala130Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912637G>A" "" "VUS" "" "0000323281" "0" "50" "13" "25486776" "25486776" "subst" "4.06719E-6" "01804" "CENPJ_000052" "g.25486776C>T" "" "" "" "CENPJ(NM_018451.4):c.388G>A (p.(Ala130Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912638C>T" "" "VUS" "" "0000323282" "0" "30" "13" "25486875" "25486875" "subst" "0.000475123" "01804" "CENPJ_000055" "g.25486875T>C" "" "" "" "CENPJ(NM_018451.4):c.289A>G (p.(Thr97Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912737T>C" "" "likely benign" "" "0000337626" "0" "10" "13" "25457207" "25457207" "subst" "0" "02327" "CENPJ_000062" "g.25457207T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24883069T>C" "" "benign" "" "0000337627" "0" "10" "13" "25459536" "25459536" "subst" "0.0112987" "02327" "CENPJ_000063" "g.25459536A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24885398A>G" "" "benign" "" "0000337629" "0" "10" "13" "25466774" "25466774" "subst" "0.808956" "02327" "CENPJ_000016" "g.25466774T>C" "" "" "" "CENPJ(NM_018451.4):c.3216+7A>G, CENPJ(NM_018451.5):c.3216+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892636T>C" "" "benign" "" "0000339764" "0" "10" "13" "25466955" "25466955" "subst" "0.549449" "02327" "CENPJ_000018" "g.25466955T>C" "" "" "" "CENPJ(NM_018451.4):c.3042A>G (p.E1014=), CENPJ(NM_018451.5):c.3042A>G (p.E1014=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24892817T>C" "" "benign" "" "0000339765" "0" "10" "13" "25480145" "25480145" "subst" "0.0144257" "02327" "CENPJ_000028" "g.25480145G>A" "" "" "" "CENPJ(NM_018451.4):c.2031C>T (p.A677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24906007G>A" "" "benign" "" "0000347777" "0" "10" "13" "25487103" "25487103" "subst" "0.147884" "02327" "CENPJ_000061" "g.25487103T>C" "" "" "" "CENPJ(NM_018451.4):c.61A>G (p.M21V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912965T>C" "" "benign" "" "0000348597" "0" "10" "13" "25486911" "25486911" "subst" "0.110388" "02327" "CENPJ_000066" "g.25486911G>T" "" "" "" "CENPJ(NM_018451.4):c.253C>A (p.P85T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24912773G>T" "" "benign" "" "0000349196" "0" "10" "13" "25479541" "25479541" "subst" "0.110544" "02327" "CENPJ_000065" "g.25479541A>C" "" "" "" "CENPJ(NM_018451.4):c.2635T>G (p.S879A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24905403A>C" "" "benign" "" "0000550064" "0" "30" "13" "25453409" "25453409" "subst" "0.00208579" "01804" "RNF17_000001" "g.25453409G>T" "" "" "" "RNF17(NM_001184993.1):c.4846G>T (p.(Asp1616Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24879271G>T" "" "likely benign" "" "0000550065" "0" "30" "13" "25457376" "25457376" "subst" "4.06204E-6" "01804" "RNF17_000002" "g.25457376C>G" "" "" "" "CENPJ(NM_018451.4):c.3956G>C (p.(Arg1319Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24883238C>G" "" "likely benign" "" "0000550066" "0" "50" "13" "25457385" "25457385" "subst" "1.62485E-5" "01943" "RNF17_000003" "g.25457385G>A" "" "" "" "CENPJ(NM_018451.4):c.3947C>T (p.T1316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24883247G>A" "" "VUS" "" "0000550067" "0" "30" "13" "25457410" "25457410" "subst" "0.000682383" "01804" "CENPJ_000006" "g.25457410C>T" "" "" "" "CENPJ(NM_018451.4):c.3922G>A (p.V1308I, p.(Val1308Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24883272C>T" "" "likely benign" "" "0000550068" "0" "50" "13" "25457412" "25457412" "subst" "0.000487393" "01804" "CENPJ_000007" "g.25457412G>A" "" "" "" "CENPJ(NM_018451.4):c.3920C>T (p.T1307I, p.(Thr1307Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24883274G>A" "" "VUS" "" "0000550069" "0" "30" "13" "25458114" "25458114" "subst" "0" "01804" "RNF17_000004" "g.25458114C>T" "" "" "" "CENPJ(NM_018451.4):c.3811G>A (p.(Val1271Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24883976C>T" "" "likely benign" "" "0000550071" "0" "50" "13" "25466917" "25466917" "subst" "5.2788E-5" "01804" "CENPJ_000069" "g.25466917T>C" "" "" "" "CENPJ(NM_018451.4):c.3080A>G (p.(Gln1027Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24892779T>C" "" "VUS" "" "0000550072" "0" "50" "13" "25466978" "25466978" "subst" "0.000191013" "01804" "CENPJ_000070" "g.25466978G>A" "" "" "" "CENPJ(NM_018451.4):c.3019C>T (p.(Arg1007Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24892840G>A" "" "VUS" "" "0000550073" "0" "10" "13" "25467022" "25467022" "dup" "0" "01943" "CENPJ_000071" "g.25467022dup" "" "" "" "CENPJ(NM_018451.4):c.2992-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24892884dup" "" "benign" "" "0000550075" "0" "50" "13" "25473691" "25473691" "subst" "0" "01943" "CENPJ_000072" "g.25473691C>T" "" "" "" "CENPJ(NM_018451.4):c.2857G>A (p.A953T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24899553C>T" "" "VUS" "" "0000550076" "0" "30" "13" "25478079" "25478079" "subst" "0" "01943" "CENPJ_000073" "g.25478079G>A" "" "" "" "CENPJ(NM_018451.4):c.2810C>T (p.A937V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24903941G>A" "" "likely benign" "" "0000550077" "0" "50" "13" "25479588" "25479588" "subst" "4.06303E-6" "01804" "CENPJ_000074" "g.25479588G>A" "" "" "" "CENPJ(NM_018451.4):c.2588C>T (p.(Ser863Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905450G>A" "" "VUS" "" "0000550078" "0" "30" "13" "25479744" "25479744" "subst" "0.000272112" "01943" "CENPJ_000075" "g.25479744A>T" "" "" "" "CENPJ(NM_018451.4):c.2432T>A (p.V811D, p.(Val811Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905606A>T" "" "likely benign" "" "0000550079" "0" "50" "13" "25479744" "25479744" "subst" "0.000272112" "01804" "CENPJ_000075" "g.25479744A>T" "" "" "" "CENPJ(NM_018451.4):c.2432T>A (p.V811D, p.(Val811Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905606A>T" "" "VUS" "" "0000550080" "0" "50" "13" "25479880" "25479880" "subst" "4.06263E-6" "01943" "CENPJ_000076" "g.25479880C>T" "" "" "" "CENPJ(NM_018451.4):c.2296G>A (p.D766N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905742C>T" "" "VUS" "" "0000550081" "0" "50" "13" "25480085" "25480085" "subst" "0" "01943" "CENPJ_000077" "g.25480085A>C" "" "" "" "CENPJ(NM_018451.4):c.2091T>G (p.V697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905947A>C" "" "VUS" "" "0000550082" "0" "30" "13" "25480243" "25480243" "subst" "3.26187E-5" "01804" "CENPJ_000078" "g.25480243G>A" "" "" "" "CENPJ(NM_018451.4):c.1933C>T (p.(Arg645Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906105G>A" "" "likely benign" "" "0000550083" "0" "30" "13" "25480634" "25480634" "subst" "0" "01943" "CENPJ_000079" "g.25480634G>A" "" "" "" "CENPJ(NM_018451.4):c.1542C>T (p.C514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906496G>A" "" "likely benign" "" "0000550084" "0" "30" "13" "25480943" "25480943" "subst" "0.000897819" "01943" "CENPJ_000080" "g.25480943C>T" "" "" "" "CENPJ(NM_018451.4):c.1233G>A (p.P411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906805C>T" "" "likely benign" "" "0000550085" "0" "30" "13" "25480945" "25480945" "subst" "0.000130004" "01804" "CENPJ_000081" "g.25480945G>A" "" "" "" "CENPJ(NM_018451.4):c.1231C>T (p.(Pro411Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906807G>A" "" "likely benign" "" "0000550086" "0" "50" "13" "25481285" "25481285" "subst" "0.00148772" "01804" "CENPJ_000067" "g.25481285A>C" "" "" "" "CENPJ(NM_018451.4):c.1021T>G (p.Y341D, p.(Tyr341Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24907147A>C" "" "VUS" "" "0000550087" "0" "10" "13" "25482142" "25482142" "subst" "1.63003E-5" "01943" "CENPJ_000082" "g.25482142A>G" "" "" "" "CENPJ(NM_018451.4):c.974+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24908004A>G" "" "benign" "" "0000550088" "0" "30" "13" "25484020" "25484020" "subst" "8.12632E-6" "01943" "CENPJ_000083" "g.25484020C>T" "" "" "" "CENPJ(NM_018451.4):c.773G>A (p.R258H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24909882C>T" "" "likely benign" "" "0000550089" "0" "30" "13" "25486855" "25486855" "subst" "0" "01804" "CENPJ_000084" "g.25486855T>G" "" "" "" "CENPJ(NM_018451.4):c.309A>C (p.(Lys103Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912717T>G" "" "likely benign" "" "0000550090" "0" "90" "13" "25486875" "25486875" "dup" "0" "01943" "CENPJ_000085" "g.25486875dup" "" "" "" "CENPJ(NM_018451.4):c.289dupA (p.T97Nfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912737dup" "" "pathogenic" "" "0000550091" "0" "30" "13" "25486877" "25486877" "subst" "0.00325661" "01804" "CENPJ_000056" "g.25486877T>C" "" "" "" "CENPJ(NM_018451.4):c.287A>G (p.H96R, p.(His96Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912739T>C" "" "likely benign" "" "0000550092" "0" "10" "13" "25486911" "25486911" "subst" "0.110388" "01943" "CENPJ_000066" "g.25486911G>T" "" "" "" "CENPJ(NM_018451.4):c.253C>A (p.P85T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912773G>T" "" "benign" "" "0000550093" "0" "30" "13" "25486941" "25486941" "subst" "0" "01804" "CENPJ_000086" "g.25486941G>T" "" "" "" "CENPJ(NM_018451.4):c.223C>A (p.(Leu75Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912803G>T" "" "likely benign" "" "0000550094" "0" "30" "13" "25486977" "25486977" "subst" "0.00530878" "01804" "CENPJ_000058" "g.25486977C>G" "" "" "" "CENPJ(NM_018451.4):c.187G>C (p.D63H, p.(Asp63His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912839C>G" "" "likely benign" "" "0000550095" "0" "30" "13" "25487001" "25487001" "subst" "0.00663785" "01804" "CENPJ_000059" "g.25487001G>C" "" "" "" "CENPJ(NM_018451.4):c.163C>G (p.P55A, p.(Pro55Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912863G>C" "" "likely benign" "" "0000550096" "0" "50" "13" "25487087" "25487088" "ins" "3.65979E-5" "01943" "CENPJ_000087" "g.25487087_25487088insCAGCCG" "" "" "" "CENPJ(NM_018451.4):c.76_77insCGGCTG (p.R26delinsPAG)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912949_24912950insCAGCCG" "" "VUS" "" "0000550097" "0" "30" "13" "25487096" "25487096" "subst" "0.00670306" "01804" "CENPJ_000088" "g.25487096T>C" "" "" "" "CENPJ(NM_018451.4):c.68A>G (p.(Asn23Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912958T>C" "" "likely benign" "" "0000550098" "0" "30" "13" "25487103" "25487103" "subst" "0.0113028" "01804" "CENPJ_000089" "g.25487103T>A" "" "" "" "CENPJ(NM_018451.4):c.61A>T (p.(Met21Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24912965T>A" "" "likely benign" "" "0000614548" "0" "30" "13" "25480216" "25480216" "subst" "0.00128083" "01943" "CENPJ_000090" "g.25480216C>T" "" "" "" "CENPJ(NM_018451.4):c.1960G>A (p.A654T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906078C>T" "" "likely benign" "" "0000614549" "0" "50" "13" "25484007" "25484010" "del" "0" "02325" "CENPJ_000045" "g.25484007_25484010del" "" "" "" "CENPJ(NM_018451.4):c.784_787del (p.(Asn262Tyrfs*17)), CENPJ(NM_018451.5):c.784_787delAATT (p.N262Yfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24909869_24909872del" "" "VUS" "" "0000614551" "0" "30" "13" "25484134" "25484134" "subst" "6.49841E-5" "01943" "CENPJ_000092" "g.25484134G>A" "" "" "" "CENPJ(NM_018451.4):c.659C>T (p.S220L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24909996G>A" "" "likely benign" "" "0000614552" "0" "30" "13" "25484171" "25484171" "subst" "9.75245E-5" "01804" "CENPJ_000049" "g.25484171T>C" "" "" "" "CENPJ(NM_018451.4):c.622A>G (p.T208A, p.(Thr208Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24910033T>C" "" "likely benign" "" "0000623037" "0" "30" "13" "25480732" "25480732" "subst" "0" "01943" "CENPJ_000091" "g.25480732C>A" "" "" "" "CENPJ(NM_018451.4):c.1444G>T (p.D482Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24906594C>A" "" "likely benign" "" "0000623038" "0" "50" "13" "25484209" "25484209" "subst" "4.0792E-5" "01943" "CENPJ_000093" "g.25484209G>A" "" "" "" "CENPJ(NM_018451.4):c.584C>T (p.P195L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24910071G>A" "" "VUS" "" "0000648721" "1" "50" "13" "25457410" "25457410" "subst" "0.000682383" "03575" "CENPJ_000006" "g.25457410C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs140564566}" "Germline" "" "rs140564566" "0" "" "" "g.24883272C>T" "" "VUS" "" "0000648722" "1" "50" "13" "25478083" "25478083" "subst" "0.00185193" "03575" "CENPJ_000095" "g.25478083T>C" "29/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs75008861}" "Germline" "" "rs75008861" "0" "" "" "g.24903945T>C" "" "VUS" "" "0000648723" "1" "50" "13" "25479714" "25479714" "subst" "0.00142588" "03575" "CENPJ_000023" "g.25479714G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs144938364}" "Germline" "" "rs144938364" "0" "" "" "g.24905576G>A" "" "VUS" "" "0000648724" "1" "50" "13" "25481285" "25481285" "subst" "0.00148772" "03575" "CENPJ_000067" "g.25481285A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs143258862}" "Germline" "" "rs143258862" "0" "" "" "g.24907147A>C" "" "VUS" "" "0000648725" "1" "70" "13" "25487031" "25487031" "subst" "8.12658E-6" "03575" "CENPJ_000096" "g.25487031G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205481}" "Germline" "" "rs786205481" "0" "" "" "g.24912893G>A" "" "likely pathogenic" "" "0000653215" "1" "70" "13" "25458584" "25458586" "dup" "0" "03575" "CENPJ_000094" "g.25458584_25458586dup" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs776528706}" "Germline" "" "rs776528706" "0" "" "" "g.24884446_24884448dup" "" "likely pathogenic" "" "0000657267" "0" "90" "13" "25478198" "25478198" "subst" "4.06894E-6" "01943" "CENPJ_000097" "g.25478198T>C" "" "" "" "CENPJ(NM_018451.4):c.2693-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24904060T>C" "" "pathogenic" "" "0000657268" "0" "30" "13" "25479850" "25479850" "subst" "4.06204E-6" "01804" "CENPJ_000098" "g.25479850T>C" "" "" "" "CENPJ(NM_018451.4):c.2326A>G (p.(Lys776Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24905712T>C" "" "likely benign" "" "0000679747" "0" "30" "13" "25459467" "25459467" "subst" "0.000125882" "01804" "CENPJ_000099" "g.25459467C>T" "" "" "" "CENPJ(NM_018451.4):c.3424G>A (p.(Glu1142Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679748" "0" "90" "13" "25480480" "25480480" "subst" "1.22775E-5" "02325" "CENPJ_000100" "g.25480480G>A" "" "" "" "CENPJ(NM_018451.5):c.1696C>T (p.R566*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679750" "0" "30" "13" "25484017" "25484017" "subst" "0.000215367" "01943" "CENPJ_000101" "g.25484017G>A" "" "" "" "CENPJ(NM_018451.4):c.776C>T (p.A259V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684788" "0" "30" "13" "25484030" "25484030" "subst" "0.00163711" "00004" "CENPJ_000102" "g.25484030T>C" "frequency 0.025" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.24909892T>C" "" "likely benign" "" "0000691488" "0" "30" "13" "25459502" "25459502" "subst" "8.12163E-6" "01804" "CENPJ_000103" "g.25459502A>G" "" "" "" "CENPJ(NM_018451.4):c.3389T>C (p.(Leu1130Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691489" "0" "50" "13" "25480503" "25480503" "subst" "0" "01804" "CENPJ_000104" "g.25480503T>G" "" "" "" "CENPJ(NM_018451.4):c.1673A>C (p.(Gln558Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724394" "0" "50" "13" "25458567" "25458567" "subst" "1.62508E-5" "01943" "RNF17_000005" "g.25458567A>G" "" "" "" "CENPJ(NM_018451.4):c.3512T>C (p.I1171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724395" "0" "50" "13" "25480527" "25480527" "subst" "1.22563E-5" "02325" "CENPJ_000105" "g.25480527T>C" "" "" "" "CENPJ(NM_018451.5):c.1649A>G (p.E550G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724396" "0" "30" "13" "25483943" "25483943" "subst" "7.00182E-5" "01804" "CENPJ_000106" "g.25483943G>A" "" "" "" "CENPJ(NM_018451.4):c.850C>T (p.(Arg284Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763222" "3" "70" "13" "25487031" "25487031" "subst" "8.12658E-6" "00006" "CENPJ_000096" "g.25487031G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.24912893G>A" "" "likely pathogenic" "ACMG" "0000806053" "0" "30" "13" "25473549" "25473549" "subst" "8.13517E-6" "01943" "CENPJ_000107" "g.25473549T>C" "" "" "" "CENPJ(NM_018451.4):c.2991+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806054" "0" "30" "13" "25479834" "25479834" "subst" "6.90568E-5" "01804" "CENPJ_000108" "g.25479834G>A" "" "" "" "CENPJ(NM_018451.4):c.2342C>T (p.(Ser781Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806055" "0" "90" "13" "25486147" "25486148" "del" "0" "01943" "CENPJ_000109" "g.25486147_25486148del" "" "" "" "CENPJ(NM_018451.4):c.505_506delCA (p.Q169Efs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853595" "0" "70" "13" "25480432" "25480432" "subst" "0" "01943" "CENPJ_000033" "g.25480432C>A" "" "" "" "CENPJ(NM_018451.4):c.1744G>T (p.E582*, p.(Glu582*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000880506" "3" "70" "13" "25487034" "25487034" "subst" "0" "03972" "CENPJ_000110" "g.25487034T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24912896T>A" "" "likely pathogenic (recessive)" "ACMG" "0000890919" "0" "50" "13" "25473628" "25473628" "subst" "4.06435E-6" "01804" "CENPJ_000111" "g.25473628G>A" "" "" "" "CENPJ(NM_018451.4):c.2920C>T (p.(Arg974Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890920" "0" "50" "13" "25478198" "25478198" "subst" "4.06894E-6" "01804" "CENPJ_000097" "g.25478198T>C" "" "" "" "CENPJ(NM_018451.4):c.2693-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890921" "0" "30" "13" "25486838" "25486838" "subst" "1.21829E-5" "01804" "CENPJ_000112" "g.25486838G>A" "" "" "" "CENPJ(NM_018451.4):c.326C>T (p.(Ala109Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918978" "0" "90" "13" "25487124" "25487124" "subst" "0" "01602" "CENPJ_000113" "g.25487124G>A" "" "" "" "" "" "Unknown" "" "rs201822162" "" "" "" "" "" "pathogenic" "ACMG" "0000921142" "3" "90" "13" "25479714" "25479714" "subst" "0.00142588" "00006" "CENPJ_000023" "g.25479714G>A" "" "{PMID:Darvish 2010:20978018}" "" "" "" "Germline" "" "" "0" "" "" "g.24905576G>A" "" "pathogenic (recessive)" "" "0000921192" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "18delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000921193" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "18delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000921194" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Sajid Hussain 2013:22775483}" "" "18delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000921333" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Kraemer 2016:26548919}" "" "17delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000921334" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Kraemer 2016:26548919}" "" "17delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000921335" "3" "90" "13" "25487147" "25487147" "del" "0" "00006" "CENPJ_000114" "g.25487147del" "" "{PMID:Kraemer 2016:26548919}" "" "17delC" "" "Germline" "" "" "0" "" "" "g.24913009del" "" "pathogenic (recessive)" "" "0000925743" "0" "30" "13" "25459777" "25459779" "del" "0" "01804" "CENPJ_000115" "g.25459777_25459779del" "" "" "" "CENPJ(NM_018451.4):c.3335_3337del (p.(Pro1112del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925744" "0" "50" "13" "25482248" "25482248" "subst" "0" "01804" "CENPJ_000116" "g.25482248A>T" "" "" "" "CENPJ(NM_018451.4):c.882T>A (p.(Cys294Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967176" "0" "10" "13" "25467022" "25467022" "del" "0" "02329" "CENPJ_000117" "g.25467022del" "" "" "" "CENPJ(NM_018451.5):c.2992-6delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967177" "0" "30" "13" "25480361" "25480361" "subst" "2.0534E-5" "01804" "CENPJ_000118" "g.25480361T>C" "" "" "" "CENPJ(NM_018451.4):c.1815A>G (p.(Gln605=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980593" "0" "90" "13" "25484159" "25484159" "subst" "6.90563E-5" "01804" "CENPJ_000119" "g.25484159C>A" "" "" "" "CENPJ(NM_018451.5):c.634G>T (p.(Glu212Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980594" "0" "70" "13" "25486087" "25486087" "del" "0" "01804" "CENPJ_000120" "g.25486087del" "" "" "" "CENPJ(NM_018451.5):c.566del (p.(Pro189GlnfsTer3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000480" "0" "90" "13" "25480590" "25480590" "subst" "9.35652E-5" "01804" "CENPJ_000121" "g.25480590G>C" "" "" "" "CENPJ(NM_018451.4):c.1586C>G (p.(Ser529*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000481" "0" "50" "13" "25480954" "25480954" "subst" "8.53312E-5" "01804" "CENPJ_000040" "g.25480954C>T" "" "" "" "CENPJ(NM_018451.4):c.1222G>A (p.E408K, p.(Glu408Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000482" "0" "30" "13" "25484030" "25484030" "subst" "0.00163711" "01804" "CENPJ_000102" "g.25484030T>C" "" "" "" "CENPJ(NM_018451.4):c.763A>G (p.(Thr255Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000483" "0" "30" "13" "25486757" "25486757" "subst" "0" "01804" "CENPJ_000122" "g.25486757C>A" "" "" "" "CENPJ(NM_018451.4):c.407G>T (p.(Gly136Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015041" "0" "50" "13" "25473571" "25473571" "subst" "3.25145E-5" "02325" "CENPJ_000123" "g.25473571G>A" "" "" "" "CENPJ(NM_018451.5):c.2977C>T (p.(Arg993Cys), p.R993C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039623" "0" "50" "13" "25473571" "25473571" "subst" "3.25145E-5" "01804" "CENPJ_000123" "g.25473571G>A" "" "" "" "CENPJ(NM_018451.5):c.2977C>T (p.(Arg993Cys), p.R993C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039624" "0" "70" "13" "25480750" "25480750" "subst" "4.06666E-6" "01804" "CENPJ_000124" "g.25480750G>A" "" "" "" "CENPJ(NM_018451.5):c.1426C>T (p.(Gln476*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 CENPJ ## Count = 150 "{{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}}" "0000000422" "00000108" "50" "3704" "-14" "3704" "-12" "c.3704-14_3704-12del" "r.(=)" "p.(=)" "" "0000154056" "00000108" "90" "25" "0" "25" "0" "c.25G>T" "r.(?)" "p.(Glu9*)" "2" "0000154057" "00000108" "90" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Gln971*)" "9" "0000249186" "00000108" "10" "3302" "-620" "3302" "-620" "c.3302-620T>C" "r.(=)" "p.(=)" "" "0000253692" "00000108" "10" "2635" "0" "2635" "0" "c.2635T>G" "r.(?)" "p.(Ser879Ala)" "" "0000253870" "00000108" "10" "3216" "22" "3216" "22" "c.3216+22T>G" "r.(=)" "p.(=)" "" "0000253871" "00000108" "10" "3216" "18" "3216" "18" "c.3216+18T>G" "r.(=)" "p.(=)" "" "0000254291" "00000108" "30" "1149" "0" "1149" "0" "c.1149T>G" "r.(?)" "p.(=)" "" "0000254477" "00000108" "30" "305" "0" "305" "0" "c.305T>A" "r.(?)" "p.(Ile102Asn)" "" "0000256663" "00000108" "50" "1021" "0" "1021" "0" "c.1021T>G" "r.(?)" "p.(Tyr341Asp)" "" "0000266654" "00000108" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ala361Val)" "" "0000266655" "00000108" "30" "1891" "0" "1891" "0" "c.1891A>G" "r.(?)" "p.(Ile631Val)" "" "0000266656" "00000108" "10" "3042" "0" "3042" "0" "c.3042A>G" "r.(?)" "p.(=)" "" "0000266657" "00000108" "10" "3216" "7" "3216" "7" "c.3216+7A>G" "r.(=)" "p.(=)" "" "0000266658" "00000108" "10" "3704" "-14" "3704" "-12" "c.3704-14_3704-12del" "r.(=)" "p.(=)" "" "0000273103" "00000108" "50" "1222" "0" "1222" "0" "c.1222G>A" "r.(?)" "p.(Glu408Lys)" "" "0000273104" "00000108" "50" "1263" "0" "1263" "0" "c.1263G>C" "r.(?)" "p.(Gln421His)" "" "0000273105" "00000108" "30" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Glu505Lys)" "" "0000273106" "00000108" "10" "1560" "0" "1560" "0" "c.1560A>T" "r.(?)" "p.(=)" "" "0000273107" "00000108" "10" "163" "0" "163" "0" "c.163C>G" "r.(?)" "p.(Pro55Ala)" "" "0000273108" "00000108" "50" "1749" "0" "1749" "0" "c.1749A>C" "r.(?)" "p.(Gln583His)" "" "0000273109" "00000108" "90" "1805" "0" "1808" "0" "c.1805_1808del" "r.(?)" "p.(Glu602Glyfs*65)" "" "0000273110" "00000108" "10" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Asp63His)" "" "0000273111" "00000108" "30" "1881" "0" "1881" "0" "c.1881G>A" "r.(?)" "p.(=)" "" "0000273112" "00000108" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(=)" "" "0000273113" "00000108" "50" "2074" "0" "2074" "0" "c.2074C>T" "r.(?)" "p.(Arg692Cys)" "" "0000273114" "00000108" "50" "2082" "0" "2084" "0" "c.2082_2084del" "r.(?)" "p.(Asp694del)" "" "0000273115" "00000108" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Pro698Ser)" "" "0000273116" "00000108" "50" "2429" "0" "2429" "0" "c.2429A>T" "r.(?)" "p.(Asp810Val)" "" "0000273117" "00000108" "50" "2462" "0" "2462" "0" "c.2462C>T" "r.(?)" "p.(Thr821Met)" "" "0000273118" "00000108" "50" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(=)" "" "0000273119" "00000108" "10" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(His96Arg)" "" "0000273121" "00000108" "10" "2992" "-18" "2992" "-16" "c.2992-18_2992-16del" "r.(=)" "p.(=)" "" "0000273123" "00000108" "10" "3042" "0" "3042" "0" "c.3042A>G" "r.(?)" "p.(=)" "" "0000273124" "00000108" "10" "3216" "7" "3216" "7" "c.3216+7A>G" "r.(=)" "p.(=)" "" "0000273125" "00000108" "50" "3594" "0" "3594" "0" "c.3594G>C" "r.(?)" "p.(Lys1198Asn)" "" "0000273126" "00000108" "30" "3619" "-12" "3619" "-12" "c.3619-12G>T" "r.(=)" "p.(=)" "" "0000273127" "00000108" "10" "3704" "-14" "3704" "-12" "c.3704-14_3704-12del" "r.(=)" "p.(=)" "" "0000273128" "00000108" "50" "3920" "0" "3920" "0" "c.3920C>T" "r.(?)" "p.(Thr1307Ile)" "" "0000273129" "00000108" "50" "3922" "0" "3922" "0" "c.3922G>A" "r.(?)" "p.(Val1308Ile)" "" "0000273130" "00000108" "30" "3948" "0" "3948" "0" "c.3948G>A" "r.(?)" "p.(Thr1316=)" "" "0000273131" "00000108" "30" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Ser1320=)" "" "0000273132" "00000108" "10" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Met21Val)" "" "0000273133" "00000108" "30" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Thr208Ala)" "" "0000273134" "00000108" "50" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Thr231Ile)" "" "0000323268" "00000108" "50" "2873" "0" "2873" "0" "c.2873G>A" "r.(?)" "p.(Arg958Gln)" "" "0000323269" "00000108" "30" "2429" "0" "2429" "0" "c.2429A>T" "r.(?)" "p.(Asp810Val)" "" "0000323270" "00000108" "70" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "" "0000323272" "00000108" "30" "1408" "0" "1408" "0" "c.1408C>G" "r.(?)" "p.(Pro470Ala)" "" "0000323275" "00000108" "50" "859" "0" "859" "0" "c.859C>A" "r.(?)" "p.(Pro287Thr)" "" "0000323276" "00000108" "30" "784" "0" "787" "0" "c.784_787del" "r.(?)" "p.(Asn262Tyrfs*17)" "" "0000323277" "00000108" "50" "779" "0" "787" "0" "c.779_787del" "r.(?)" "p.(Ser260_Asn262del)" "" "0000323279" "00000108" "50" "579" "0" "579" "0" "c.579A>C" "r.(?)" "p.(Leu193Phe)" "" "0000323280" "00000108" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ala130Val)" "" "0000323281" "00000108" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Ala130Thr)" "" "0000323282" "00000108" "30" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Thr97Ala)" "" "0000337626" "00000108" "10" "4125" "0" "4125" "0" "c.*108=" "r.(=)" "p.(=)" "" "0000337627" "00000108" "10" "3367" "-12" "3367" "-12" "c.3367-12T>C" "r.(=)" "p.(=)" "" "0000337629" "00000108" "10" "3216" "7" "3216" "7" "c.3216+7A>G" "r.(=)" "p.(=)" "" "0000339764" "00000108" "10" "3042" "0" "3042" "0" "c.3042A>G" "r.(?)" "p.(=)" "" "0000339765" "00000108" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(=)" "" "0000347777" "00000108" "10" "61" "0" "61" "0" "c.61A>G" "r.(?)" "p.(Met21Val)" "" "0000348597" "00000108" "10" "253" "0" "253" "0" "c.253C>A" "r.(?)" "p.(Pro85Thr)" "" "0000349196" "00000108" "10" "2635" "0" "2635" "0" "c.2635T>G" "r.(?)" "p.(Ser879Ala)" "" "0000550064" "00000108" "30" "7923" "0" "7923" "0" "c.*3906C>A" "r.(=)" "p.(=)" "" "0000550065" "00000108" "30" "3956" "0" "3956" "0" "c.3956G>C" "r.(?)" "p.(Arg1319Thr)" "" "0000550066" "00000108" "50" "3947" "0" "3947" "0" "c.3947C>T" "r.(?)" "p.(Thr1316Met)" "" "0000550067" "00000108" "30" "3922" "0" "3922" "0" "c.3922G>A" "r.(?)" "p.(Val1308Ile)" "" "0000550068" "00000108" "50" "3920" "0" "3920" "0" "c.3920C>T" "r.(?)" "p.(Thr1307Ile)" "" "0000550069" "00000108" "30" "3811" "0" "3811" "0" "c.3811G>A" "r.(?)" "p.(Val1271Ile)" "" "0000550071" "00000108" "50" "3080" "0" "3080" "0" "c.3080A>G" "r.(?)" "p.(Gln1027Arg)" "" "0000550072" "00000108" "50" "3019" "0" "3019" "0" "c.3019C>T" "r.(?)" "p.(Arg1007Trp)" "" "0000550073" "00000108" "10" "2992" "-6" "2992" "-6" "c.2992-6dup" "r.(=)" "p.(=)" "" "0000550075" "00000108" "50" "2857" "0" "2857" "0" "c.2857G>A" "r.(?)" "p.(Ala953Thr)" "" "0000550076" "00000108" "30" "2810" "0" "2810" "0" "c.2810C>T" "r.(?)" "p.(Ala937Val)" "" "0000550077" "00000108" "50" "2588" "0" "2588" "0" "c.2588C>T" "r.(?)" "p.(Ser863Leu)" "" "0000550078" "00000108" "30" "2432" "0" "2432" "0" "c.2432T>A" "r.(?)" "p.(Val811Asp)" "" "0000550079" "00000108" "50" "2432" "0" "2432" "0" "c.2432T>A" "r.(?)" "p.(Val811Asp)" "" "0000550080" "00000108" "50" "2296" "0" "2296" "0" "c.2296G>A" "r.(?)" "p.(Asp766Asn)" "" "0000550081" "00000108" "50" "2091" "0" "2091" "0" "c.2091T>G" "r.(?)" "p.(=)" "" "0000550082" "00000108" "30" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Cys)" "" "0000550083" "00000108" "30" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(=)" "" "0000550084" "00000108" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(=)" "" "0000550085" "00000108" "30" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Pro411Ser)" "" "0000550086" "00000108" "50" "1021" "0" "1021" "0" "c.1021T>G" "r.(?)" "p.(Tyr341Asp)" "" "0000550087" "00000108" "10" "974" "14" "974" "14" "c.974+14T>C" "r.(=)" "p.(=)" "" "0000550088" "00000108" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258His)" "" "0000550089" "00000108" "30" "309" "0" "309" "0" "c.309A>C" "r.(?)" "p.(Lys103Asn)" "" "0000550090" "00000108" "90" "289" "0" "289" "0" "c.289dup" "r.(?)" "p.(Thr97Asnfs*7)" "" "0000550091" "00000108" "30" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(His96Arg)" "" "0000550092" "00000108" "10" "253" "0" "253" "0" "c.253C>A" "r.(?)" "p.(Pro85Thr)" "" "0000550093" "00000108" "30" "223" "0" "223" "0" "c.223C>A" "r.(?)" "p.(Leu75Ile)" "" "0000550094" "00000108" "30" "187" "0" "187" "0" "c.187G>C" "r.(?)" "p.(Asp63His)" "" "0000550095" "00000108" "30" "163" "0" "163" "0" "c.163C>G" "r.(?)" "p.(Pro55Ala)" "" "0000550096" "00000108" "50" "76" "0" "77" "0" "c.76_77insCGGCTG" "r.(?)" "p.(Arg26delinsProAlaGly)" "" "0000550097" "00000108" "30" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asn23Ser)" "" "0000550098" "00000108" "30" "61" "0" "61" "0" "c.61A>T" "r.(?)" "p.(Met21Leu)" "" "0000614548" "00000108" "30" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Ala654Thr)" "" "0000614549" "00000108" "50" "784" "0" "787" "0" "c.784_787del" "r.(?)" "p.(Asn262Tyrfs*17)" "" "0000614551" "00000108" "30" "659" "0" "659" "0" "c.659C>T" "r.(?)" "p.(Ser220Leu)" "" "0000614552" "00000108" "30" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Thr208Ala)" "" "0000623037" "00000108" "30" "1444" "0" "1444" "0" "c.1444G>T" "r.(?)" "p.(Asp482Tyr)" "" "0000623038" "00000108" "50" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Pro195Leu)" "" "0000648721" "00000108" "50" "3922" "0" "3922" "0" "c.3922G>A" "" "" "" "0000648722" "00000108" "50" "2806" "0" "2806" "0" "c.2806A>G" "r.(?)" "p.(Ser936Gly)" "" "0000648723" "00000108" "50" "2462" "0" "2462" "0" "c.2462C>T" "r.(?)" "p.(Thr821Met)" "" "0000648724" "00000108" "50" "1021" "0" "1021" "0" "c.1021T>G" "r.(?)" "p.(Tyr341Asp)" "" "0000648725" "00000108" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45*)" "" "0000653215" "00000108" "70" "3495" "0" "3497" "0" "c.3495_3497dup" "r.(?)" "p.(Lys1165dup)" "" "0000657267" "00000108" "90" "2693" "-2" "2693" "-2" "c.2693-2A>G" "r.spl?" "p.?" "" "0000657268" "00000108" "30" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Lys776Glu)" "" "0000679747" "00000108" "30" "3424" "0" "3424" "0" "c.3424G>A" "r.(?)" "p.(Glu1142Lys)" "" "0000679748" "00000108" "90" "1696" "0" "1696" "0" "c.1696C>T" "r.(?)" "p.(Arg566*)" "" "0000679750" "00000108" "30" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000684788" "00000108" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Thr255Ala)" "" "0000691488" "00000108" "30" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Leu1130Pro)" "" "0000691489" "00000108" "50" "1673" "0" "1673" "0" "c.1673A>C" "r.(?)" "p.(Gln558Pro)" "" "0000724394" "00000108" "50" "3512" "0" "3512" "0" "c.3512T>C" "r.(?)" "p.(Ile1171Thr)" "" "0000724395" "00000108" "50" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Glu550Gly)" "" "0000724396" "00000108" "30" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Arg284Cys)" "" "0000763222" "00000108" "70" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45*)" "" "0000806053" "00000108" "30" "2991" "8" "2991" "8" "c.2991+8A>G" "r.(=)" "p.(=)" "" "0000806054" "00000108" "30" "2342" "0" "2342" "0" "c.2342C>T" "r.(?)" "p.(Ser781Leu)" "" "0000806055" "00000108" "90" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Gln169Glufs*27)" "" "0000853595" "00000108" "70" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "" "0000880506" "00000108" "70" "130" "0" "130" "0" "c.130A>T" "r.(?)" "p.(Lys44Ter)" "" "0000890919" "00000108" "50" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Arg974Cys)" "" "0000890920" "00000108" "50" "2693" "-2" "2693" "-2" "c.2693-2A>G" "r.spl?" "p.?" "" "0000890921" "00000108" "30" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Ala109Val)" "" "0000918978" "00000108" "90" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Gln14*)" "" "0000921142" "00000108" "90" "2462" "0" "2462" "0" "c.2462C>T" "r.(?)" "p.(Thr821Met)" "7" "0000921192" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000921193" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000921194" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000921333" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000921334" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000921335" "00000108" "90" "18" "0" "18" "0" "c.18del" "r.(?)" "p.(Ser7LeufsTer4)" "2" "0000925743" "00000108" "30" "3335" "0" "3337" "0" "c.3335_3337del" "r.(?)" "p.(Pro1112del)" "" "0000925744" "00000108" "50" "882" "0" "882" "0" "c.882T>A" "r.(?)" "p.(Cys294*)" "" "0000967176" "00000108" "10" "2992" "-6" "2992" "-6" "c.2992-6del" "r.(=)" "p.(=)" "" "0000967177" "00000108" "30" "1815" "0" "1815" "0" "c.1815A>G" "r.(?)" "p.(=)" "" "0000980593" "00000108" "90" "634" "0" "634" "0" "c.634G>T" "r.(?)" "p.(Glu212*)" "" "0000980594" "00000108" "70" "566" "0" "566" "0" "c.566del" "r.(?)" "p.(Pro189Glnfs*3)" "" "0001000480" "00000108" "90" "1586" "0" "1586" "0" "c.1586C>G" "r.(?)" "p.(Ser529*)" "" "0001000481" "00000108" "50" "1222" "0" "1222" "0" "c.1222G>A" "r.(?)" "p.(Glu408Lys)" "" "0001000482" "00000108" "30" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Thr255Ala)" "" "0001000483" "00000108" "30" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Gly136Val)" "" "0001015041" "00000108" "50" "2977" "0" "2977" "0" "c.2977C>T" "r.(?)" "p.(Arg993Cys)" "" "0001039623" "00000108" "50" "2977" "0" "2977" "0" "c.2977C>T" "r.(?)" "p.(Arg993Cys)" "" "0001039624" "00000108" "70" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Gln476*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000422" "0000095494" "0000154056" "0000095494" "0000154057" "0000292032" "0000648721" "0000292033" "0000648722" "0000292034" "0000648723" "0000292035" "0000648724" "0000292036" "0000648725" "0000296526" "0000653215" "0000309886" "0000684788" "0000362848" "0000763222" "0000420189" "0000880506" "0000433331" "0000918978" "0000435198" "0000921142" "0000435241" "0000921192" "0000435242" "0000921193" "0000435243" "0000921194" "0000435358" "0000921333" "0000435359" "0000921334" "0000435360" "0000921335"