### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PSMB4) # 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}}" "PSMB4" "proteasome (prosome, macropain) subunit, beta type, 4" "1" "q21" "unknown" "NC_000001.10" "UD_132319163746" "" "http://www.LOVD.nl/PSMB4" "" "1" "9541" "5692" "602177" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-12 09:02:01" "00000" "2026-01-20 18:57:21" ## 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}}" "00017025" "PSMB4" "proteasome (prosome, macropain) subunit, beta type, 4" "001" "NM_002796.2" "" "NP_002787.2" "" "" "" "-23" "902" "795" "151372041" "151374412" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "07079" "PRAAS3" "proteasome-associated autoinflammatory syndrome, type 3" "AR" "617591" "" "" "" "00006" "2024-05-02 18:38:37" "00006" "2024-05-02 18:39:11" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PSMB4" "07079" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00081456" "" "" "" "1" "" "00006" "{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}" "" "F" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00081456" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 07079 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000061026" "00139" "00081456" "00006" "Isolated (sporadic)" "09y" "hypotonia, migraines, OFC (10-25th), no brain abnormality, walk 1y8m, talk 1y2m, cyclic vomitting, dysmorphic, broad toes, thumbs, spatulate fingers, ADHD; intellectual disability (HP:0001249); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081551" "00081456" "1" "00006" "00006" "2016-10-12 08:38:50" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081551" "POGZ" ## 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 = 56 "{{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}}" "0000132207" "0" "90" "1" "151374293" "151403318" "" "0" "00006" "POGZ_000038" "g.(151372204_151374293)_(151403318_151413403)del" "" "{PMID:Ye 2015:27148570}, {DOI:Ye 2015:10.1101/mcs.a000455}" "" "" "32 kb deletion exons 4–19 of POGZ and part of PSMB4" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000301104" "0" "90" "1" "151378252" "151378252" "subst" "0" "02326" "POGZ_000041" "g.151378252G>A" "" "" "" "POGZ(NM_015100.4):c.3259C>T (p.R1087*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405776G>A" "" "pathogenic" "" "0000306056" "0" "90" "1" "151377799" "151377799" "subst" "0" "01943" "POGZ_000040" "g.151377799C>A" "" "" "" "POGZ(NM_015100.3):c.3712G>T (p.E1238*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405323C>A" "" "pathogenic" "" "0000320976" "0" "30" "1" "151373709" "151373709" "subst" "8.53402E-5" "01804" "PSMB4_000001" "g.151373709C>G" "" "" "" "PSMB4(NM_002796.2):c.577-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151401233C>G" "" "likely benign" "" "0000339007" "0" "70" "1" "151377403" "151377403" "subst" "0" "02327" "POGZ_000047" "g.151377403G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151404927G>A" "" "likely pathogenic" "" "0000344483" "0" "70" "1" "151378471" "151378471" "subst" "0" "02327" "POGZ_000010" "g.151378471G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405995G>A" "" "likely pathogenic" "" "0000344530" "0" "70" "1" "151377664" "151377664" "subst" "0" "02327" "POGZ_000027" "g.151377664G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405188G>A" "" "likely pathogenic" "" "0000345070" "0" "90" "1" "151378054" "151378055" "del" "0" "02327" "POGZ_000037" "g.151378054_151378055del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151405578_151405579del" "" "pathogenic" "" "0000350208" "0" "90" "1" "151378889" "151378889" "subst" "0" "02327" "POGZ_000049" "g.151378889G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151406413G>C" "" "pathogenic" "" "0000503121" "0" "50" "1" "151377514" "151377514" "subst" "4.46958E-5" "02327" "PSMB4_000002" "g.151377514C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405038C>T" "" "VUS" "" "0000503124" "0" "70" "1" "151377999" "151377999" "subst" "0" "02329" "PSMB4_000005" "g.151377999G>A" "" "" "" "POGZ(NM_015100.4):c.3512C>T (p.P1171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405523G>A" "" "likely pathogenic" "" "0000503125" "0" "70" "1" "151378327" "151378327" "subst" "0" "02327" "PSMB4_000006" "g.151378327C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405851C>T" "" "likely pathogenic" "" "0000503126" "0" "90" "1" "151378489" "151378489" "subst" "0" "01943" "POGZ_000011" "g.151378489G>A" "" "" "" "POGZ(NM_015100.3):c.3022C>T (p.R1008*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151406013G>A" "" "pathogenic" "" "0000503127" "0" "30" "1" "151378722" "151378722" "subst" "0.00139879" "01943" "PSMB4_000007" "g.151378722G>C" "" "" "" "POGZ(NM_015100.3):c.2789C>G (p.P930R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151406246G>C" "" "likely benign" "" "0000604792" "0" "50" "1" "151377750" "151377750" "subst" "0" "02325" "PSMB4_000008" "g.151377750G>A" "" "" "" "POGZ(NM_015100.4):c.3761C>T (p.P1254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405274G>A" "" "VUS" "" "0000604793" "0" "70" "1" "151377936" "151377936" "subst" "0" "02327" "PSMB4_000009" "g.151377936A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151405460A>G" "" "likely pathogenic" "" "0000604794" "0" "70" "1" "151378641" "151378644" "dup" "0" "02327" "PSMB4_000010" "g.151378641_151378644dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.151406165_151406168dup" "" "likely pathogenic" "" "0000675469" "0" "70" "1" "151372055" "151372055" "subst" "0.000980949" "02325" "PSMB4_000011" "g.151372055G>A" "" "" "" "PSMB4(NM_002796.3):c.-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675470" "0" "50" "1" "151374091" "151374091" "subst" "0" "02325" "PSMB4_000012" "g.151374091T>C" "" "" "" "PSMB4(NM_002796.3):c.767T>C (p.I256T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675471" "0" "70" "1" "151377742" "151377742" "subst" "0" "02327" "PSMB4_000013" "g.151377742A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000675473" "0" "90" "1" "151378921" "151378921" "subst" "0" "02327" "POGZ_000013" "g.151378921G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687866" "0" "30" "1" "151373726" "151373726" "subst" "0" "01943" "PSMB4_000015" "g.151373726A>G" "" "" "" "PSMB4(NM_002796.3):c.588A>G (p.R196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716802" "0" "70" "1" "151372547" "151372547" "del" "0" "02329" "PSMB4_000016" "g.151372547del" "" "" "" "PSMB4(NM_002796.3):c.231delC (p.L78Wfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716803" "0" "50" "1" "151373081" "151373081" "subst" "4.06286E-5" "02329" "PSMB4_000017" "g.151373081A>G" "" "" "" "PSMB4(NM_002796.3):c.494+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716804" "0" "70" "1" "151377871" "151377871" "subst" "0" "01804" "PSMB4_000018" "g.151377871G>A" "" "" "" "POGZ(NM_015100.3):c.3640C>T (p.(Gln1214*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716805" "0" "70" "1" "151378493" "151378493" "subst" "0" "02327" "PSMB4_000019" "g.151378493C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798770" "0" "30" "1" "151372610" "151372610" "subst" "0" "02325" "PSMB4_000020" "g.151372610C>T" "" "" "" "PSMB4(NM_002796.3):c.294C>T (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798771" "0" "70" "1" "151377576" "151377576" "subst" "0" "02329" "PSMB4_000021" "g.151377576A>C" "" "" "" "POGZ(NM_001194937.2):c.3908T>G (p.I1303S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798772" "0" "30" "1" "151377580" "151377580" "subst" "3.65453E-5" "02325" "PSMB4_000022" "g.151377580C>T" "" "" "" "POGZ(NM_015100.4):c.3931G>A (p.V1311I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848296" "0" "30" "1" "151374029" "151374029" "subst" "0.000138062" "02326" "PSMB4_000024" "g.151374029C>T" "" "" "" "PSMB4(NM_002796.3):c.705C>T (p.A235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848297" "0" "90" "1" "151378510" "151378510" "subst" "0" "02327" "POGZ_000004" "g.151378510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856967" "0" "30" "1" "151372201" "151372201" "subst" "2.84477E-5" "01943" "PSMB4_000023" "g.151372201C>T" "" "" "" "PSMB4(NM_002796.3):c.138C>T (p.T46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856968" "0" "30" "1" "151374038" "151374038" "subst" "4.06072E-6" "01943" "PSMB4_000025" "g.151374038C>T" "" "" "" "PSMB4(NM_002796.3):c.714C>T (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856969" "0" "90" "1" "151378186" "151378186" "dup" "0" "01943" "PSMB4_000026" "g.151378186dup" "" "" "" "POGZ(NM_015100.3):c.3325dupC (p.Q1109Pfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000882763" "0" "30" "1" "151374126" "151374126" "subst" "0.000117781" "02326" "PSMB4_000027" "g.151374126T>C" "" "" "" "PSMB4(NM_002796.3):c.782+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882764" "0" "70" "1" "151378180" "151378180" "subst" "0" "02327" "PSMB4_000028" "g.151378180G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922945" "0" "30" "1" "151374276" "151374277" "del" "0.0022875" "02326" "PSMB4_000029" "g.151374276_151374277del" "" "" "" "PSMB4(NM_002796.3):c.783-17_783-16delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928007" "0" "50" "1" "151373081" "151373081" "subst" "4.06286E-5" "02326" "PSMB4_000017" "g.151373081A>G" "" "" "" "PSMB4(NM_002796.3):c.494+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960492" "0" "50" "1" "151377740" "151377740" "subst" "0" "02329" "PSMB4_000030" "g.151377740A>C" "" "" "" "POGZ(NM_015100.4):c.3771T>G (p.C1257W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960493" "0" "50" "1" "151377769" "151377769" "subst" "0" "02329" "PSMB4_000031" "g.151377769T>G" "" "" "" "POGZ(NM_015100.4):c.3742A>C (p.T1248P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973292" "0" "30" "1" "151377425" "151377425" "subst" "5.2794E-5" "01804" "PSMB4_000032" "g.151377425T>G" "" "" "" "POGZ(NM_015100.4):c.4086A>C (p.(Glu1362Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973293" "0" "30" "1" "151378812" "151378812" "subst" "0" "01804" "PSMB4_000033" "g.151378812A>C" "" "" "" "POGZ(NM_015100.4):c.2699T>G (p.(Leu900Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990264" "0" "10" "1" "151372679" "151372679" "subst" "0.00199324" "02326" "PSMB4_000034" "g.151372679A>G" "" "" "" "PSMB4(NM_002796.3):c.347+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000990265" "0" "50" "1" "151377505" "151377505" "subst" "0" "01804" "PSMB4_000035" "g.151377505T>G" "" "" "" "POGZ(NM_001194937.1):c.3979A>C (p.(Ser1327Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990266" "0" "30" "1" "151378059" "151378059" "subst" "0" "01804" "PSMB4_000036" "g.151378059C>T" "" "" "" "POGZ(NM_001194937.1):c.3425G>A (p.(Arg1142Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990267" "0" "50" "1" "151378291" "151378291" "subst" "1.21882E-5" "01804" "PSMB4_000037" "g.151378291G>A" "" "" "" "POGZ(NM_015100.3):c.3220C>T (p.(Arg1074Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990268" "0" "30" "1" "151378819" "151378819" "subst" "0" "01804" "PSMB4_000038" "g.151378819C>T" "" "" "" "POGZ(NM_015100.3):c.2692G>A (p.(Glu898Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031248" "0" "30" "1" "151378257" "151378257" "subst" "8.12645E-6" "01804" "PSMB4_000039" "g.151378257G>A" "" "" "" "POGZ(NM_015100.4):c.3254C>T (p.(Ala1085Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031249" "0" "30" "1" "151378261" "151378261" "subst" "0" "01804" "PSMB4_000040" "g.151378261G>A" "" "" "" "POGZ(NM_015100.4):c.3250C>T (p.(His1084Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031250" "0" "30" "1" "151378915" "151378915" "subst" "0" "01804" "PSMB4_000041" "g.151378915G>A" "" "" "" "POGZ(NM_015100.4):c.2596C>T (p.(His866Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031251" "0" "50" "1" "151379405" "151379405" "subst" "4.06151E-6" "01804" "PSMB4_000042" "g.151379405T>C" "" "" "" "POGZ(NM_015100.4):c.2527A>G (p.(Ser843Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050250" "0" "50" "1" "151378081" "151378083" "del" "0" "01804" "PSMB4_000043" "g.151378081_151378083del" "" "" "" "POGZ(NM_015100.4):c.3430_3432del (p.(Glu1144del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050251" "0" "30" "1" "151378395" "151378395" "subst" "2.03087E-5" "01804" "PSMB4_000044" "g.151378395C>T" "" "" "" "POGZ(NM_015100.4):c.3116G>A (p.(Arg1039His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050252" "0" "30" "1" "151379390" "151379390" "subst" "1.21867E-5" "01804" "PSMB4_000045" "g.151379390G>A" "" "" "" "POGZ(NM_015100.4):c.2542C>T (p.(Arg848Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063140" "0" "50" "1" "151377411" "151377411" "subst" "0" "01804" "PSMB4_000046" "g.151377411G>C" "" "" "" "POGZ(NM_015100.4):c.4100C>G (p.(Ser1367Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063141" "0" "90" "1" "151378489" "151378489" "subst" "0" "02325" "POGZ_000011" "g.151378489G>A" "" "" "" "POGZ(NM_015100.3):c.3022C>T (p.R1008*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PSMB4 ## Count = 56 "{{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}}" "0000132207" "00017025" "50" "140" "1" "783" "-1" "c.(140+1_783-1)del" "r.0?" "p.0?" "?" "0000301104" "00017025" "90" "4742" "0" "4742" "0" "c.*3947G>A" "r.(=)" "p.(=)" "" "0000306056" "00017025" "90" "4289" "0" "4289" "0" "c.*3494C>A" "r.(=)" "p.(=)" "" "0000320976" "00017025" "30" "577" "-6" "577" "-6" "c.577-6C>G" "r.(=)" "p.(=)" "" "0000339007" "00017025" "70" "3893" "0" "3893" "0" "c.*3098G>A" "r.(=)" "p.(=)" "" "0000344483" "00017025" "70" "4961" "0" "4961" "0" "c.*4166G>A" "r.(=)" "p.(=)" "" "0000344530" "00017025" "70" "4154" "0" "4154" "0" "c.*3359G>A" "r.(=)" "p.(=)" "" "0000345070" "00017025" "90" "4544" "0" "4545" "0" "c.*3749_*3750del" "r.(=)" "p.(=)" "" "0000350208" "00017025" "90" "5379" "0" "5379" "0" "c.*4584G>C" "r.(=)" "p.(=)" "" "0000503121" "00017025" "50" "4004" "0" "4004" "0" "c.*3209C>T" "r.(=)" "p.(=)" "" "0000503124" "00017025" "70" "4489" "0" "4489" "0" "c.*3694G>A" "r.(=)" "p.(=)" "" "0000503125" "00017025" "70" "4817" "0" "4817" "0" "c.*4022C>T" "r.(=)" "p.(=)" "" "0000503126" "00017025" "90" "4979" "0" "4979" "0" "c.*4184G>A" "r.(=)" "p.(=)" "" "0000503127" "00017025" "30" "5212" "0" "5212" "0" "c.*4417G>C" "r.(=)" "p.(=)" "" "0000604792" "00017025" "50" "4240" "0" "4240" "0" "c.*3445G>A" "r.(=)" "p.(=)" "" "0000604793" "00017025" "70" "4426" "0" "4426" "0" "c.*3631A>G" "r.(=)" "p.(=)" "" "0000604794" "00017025" "70" "5131" "0" "5134" "0" "c.*4336_*4339dup" "r.(=)" "p.(=)" "" "0000675469" "00017025" "70" "-9" "0" "-9" "0" "c.-9G>A" "r.(?)" "p.(=)" "" "0000675470" "00017025" "50" "767" "0" "767" "0" "c.767T>C" "r.(?)" "p.(Ile256Thr)" "" "0000675471" "00017025" "70" "4232" "0" "4232" "0" "c.*3437A>G" "r.(=)" "p.(=)" "" "0000675473" "00017025" "90" "5411" "0" "5411" "0" "c.*4616G>A" "r.(=)" "p.(=)" "" "0000687866" "00017025" "30" "588" "0" "588" "0" "c.588A>G" "r.(?)" "p.(Arg196=)" "" "0000716802" "00017025" "70" "231" "0" "231" "0" "c.231del" "r.(?)" "p.(Leu78Trpfs*31)" "" "0000716803" "00017025" "50" "494" "17" "494" "17" "c.494+17A>G" "r.(=)" "p.(=)" "" "0000716804" "00017025" "70" "4361" "0" "4361" "0" "c.*3566G>A" "r.(=)" "p.(=)" "" "0000716805" "00017025" "70" "4983" "0" "4983" "0" "c.*4188C>T" "r.(=)" "p.(=)" "" "0000798770" "00017025" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ala98=)" "" "0000798771" "00017025" "70" "4066" "0" "4066" "0" "c.*3271A>C" "r.(=)" "p.(=)" "" "0000798772" "00017025" "30" "4070" "0" "4070" "0" "c.*3275C>T" "r.(=)" "p.(=)" "" "0000848296" "00017025" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Ala235=)" "" "0000848297" "00017025" "90" "5000" "0" "5000" "0" "c.*4205G>A" "r.(=)" "p.(=)" "" "0000856967" "00017025" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Thr46=)" "" "0000856968" "00017025" "30" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Thr238=)" "" "0000856969" "00017025" "90" "4676" "0" "4676" "0" "c.*3881dup" "r.(?)" "p.(=)" "" "0000882763" "00017025" "30" "782" "20" "782" "20" "c.782+20T>C" "r.(=)" "p.(=)" "" "0000882764" "00017025" "70" "4670" "0" "4670" "0" "c.*3875G>A" "r.(=)" "p.(=)" "" "0000922945" "00017025" "30" "783" "-17" "783" "-16" "c.783-17_783-16del" "r.(=)" "p.(=)" "" "0000928007" "00017025" "50" "494" "17" "494" "17" "c.494+17A>G" "r.(=)" "p.(=)" "" "0000960492" "00017025" "50" "4230" "0" "4230" "0" "c.*3435A>C" "r.(=)" "p.(=)" "" "0000960493" "00017025" "50" "4259" "0" "4259" "0" "c.*3464T>G" "r.(=)" "p.(=)" "" "0000973292" "00017025" "30" "3915" "0" "3915" "0" "c.*3120T>G" "r.(=)" "p.(=)" "" "0000973293" "00017025" "30" "5302" "0" "5302" "0" "c.*4507A>C" "r.(=)" "p.(=)" "" "0000990264" "00017025" "10" "347" "16" "347" "16" "c.347+16A>G" "r.(=)" "p.(=)" "" "0000990265" "00017025" "50" "3995" "0" "3995" "0" "c.*3200T>G" "r.(=)" "p.(=)" "" "0000990266" "00017025" "30" "4549" "0" "4549" "0" "c.*3754C>T" "r.(=)" "p.(=)" "" "0000990267" "00017025" "50" "4781" "0" "4781" "0" "c.*3986G>A" "r.(=)" "p.(=)" "" "0000990268" "00017025" "30" "5309" "0" "5309" "0" "c.*4514C>T" "r.(=)" "p.(=)" "" "0001031248" "00017025" "30" "4747" "0" "4747" "0" "c.*3952G>A" "r.(=)" "p.(=)" "" "0001031249" "00017025" "30" "4751" "0" "4751" "0" "c.*3956G>A" "r.(=)" "p.(=)" "" "0001031250" "00017025" "30" "5405" "0" "5405" "0" "c.*4610G>A" "r.(=)" "p.(=)" "" "0001031251" "00017025" "50" "5895" "0" "5895" "0" "c.*5100T>C" "r.(=)" "p.(=)" "" "0001050250" "00017025" "50" "4571" "0" "4573" "0" "c.*3776_*3778del" "r.(=)" "p.(=)" "" "0001050251" "00017025" "30" "4885" "0" "4885" "0" "c.*4090C>T" "r.(=)" "p.(=)" "" "0001050252" "00017025" "30" "5880" "0" "5880" "0" "c.*5085G>A" "r.(=)" "p.(=)" "" "0001063140" "00017025" "50" "3901" "0" "3901" "0" "c.*3106G>C" "r.(=)" "p.(=)" "" "0001063141" "00017025" "90" "4979" "0" "4979" "0" "c.*4184G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000081551" "0000132207"