### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLCB4) # 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}}" "PLCB4" "phospholipase C, beta 4" "20" "p12" "unknown" "NG_032790.2" "UD_132439408848" "" "https://www.LOVD.nl/PLCB4" "" "1" "9059" "5332" "600810" "1" "1" "1" "1" "MANE select NM_001377142.1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PLCB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-16 11:59:40" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016299" "PLCB4" "transcript variant 1" "003" "NM_000933.3" "" "NP_000924.3" "" "" "" "-15" "5392" "3585" "9288447" "9461463" "" "0000-00-00 00:00:00" "" "" "00025919" "PLCB4" "transcript variant 7 (removed from reference sequence) (removed from reference sequence)" "000" "NM_001377142.1" "" "NP_001364071.1" "" "" "MANE select" "-254" "5420" "3621" "1" "1" "00006" "2024-03-19 12:53:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00751" "ARCND2A" "auriculocondylar syndrome, type 2A" "AD" "614669" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-03-19 12:51:41" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05901" "ARCND" "auriculocondylar syndrome (ARCND)" "" "" "" "" "" "00006" "2021-02-17 11:15:16" "00006" "2021-12-10 21:51:32" "07074" "ARCND2B" "auriculocondylar syndrome, type 2B" "AR" "620458" "" "" "" "00006" "2024-03-19 12:52:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PLCB4" "00139" "PLCB4" "00751" "PLCB4" "05901" "PLCB4" "07074" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00292975" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292976" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00394356" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "AgS1" "00401665" "" "" "" "2" "" "04251" "" "" "" "" "" "" "" "" "" "" "" "00402585" "" "" "" "1" "" "04251" "" "" "" "" "" "" "" "" "" "" "" "00402586" "" "" "" "2" "" "04251" "" "" "" "" "" "" "" "" "" "" "" "00402587" "" "" "" "3" "" "04251" "" "" "" "" "" "" "" "" "" "" "" "00402588" "" "" "" "1" "" "04251" "" "" "" "" "" "" "" "" "" "" "" "00426146" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "30DF10300" "00448520" "" "" "" "1" "" "00006" "{PMID:Lin 2024:38414442}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat1" "00448521" "" "" "" "1" "" "00006" "{PMID:Lin 2024:38414442}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00292975" "00198" "00292976" "00198" "00394356" "04214" "00401665" "05901" "00402585" "05901" "00402586" "05901" "00402587" "05901" "00402588" "05901" "00426146" "00139" "00448520" "05901" "00448521" "05901" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00751, 04214, 05901, 07074 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000287560" "04214" "00394356" "00000" "Familial, autosomal dominant" "" "Increased pressure on optic nerve, electroretinogram consistent with Alstrom syndrome" "" "" "" "" "" "" "" "" "Alagille syndrome" "" "" "0000294436" "05901" "00401665" "04251" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295348" "05901" "00402585" "04251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295349" "05901" "00402586" "04251" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295350" "05901" "00402587" "04251" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000295351" "05901" "00402588" "04251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000317296" "00139" "00426146" "00006" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "Auriculocondylar syndrome 2" "intellectual disability" "" "0000337697" "05901" "00448520" "00006" "Isolated (sporadic)" "01y" "brith 41w, length 50 cm (+0.2 SD), weight 2.94 kg (−0.8 SD); 1y-height 73.6 cm (−0.5 SD), weight 9.6 kg (+0.2 SD); question-mark ears, skin tags (post-auricular), prominent cheeks, micrognathia, microstomia, low-set ears, malformed ears; no intellectual disability, motor delay, seizure, hypotonia, no opisthotonus; hearing impairment; feeding difficulties, no constipation, diarrhea; no apnea, no laryngomalacia" "" "" "" "" "" "" "" "" "ARCND2B" "auriculocondylar syndrome" "" "0000337698" "05901" "00448521" "00006" "Isolated (sporadic)" "05y08m" "brith 42w, length 50 cm (+0.2 SD), weight 3.35 kg (+0.1 SD); 5y8m-height 107 cm (−2.0 SD), weight 15 kg (-2.7 SD); no question-mark ears, no skin tags, prominent cheeks, micrognathia, microstomia, no low-set ears, malformed ears; intellectual disability, motor delay, no seizure, no hypotonia, opisthotonus; no hearing impairment; feeding difficulties, constipation, no diarrhea; apnea, laryngomalacia" "" "" "" "" "" "" "" "" "ARCND2B" "auriculocondylar syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000294143" "00292975" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294144" "00292976" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000395603" "00394356" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000402908" "00401665" "1" "04251" "04251" "2022-02-01 19:33:48" "" "" "?" "DNA" "" "" "0000403827" "00402585" "1" "04251" "04251" "2022-02-07 22:14:54" "" "" "?" "DNA" "" "" "0000403828" "00402586" "1" "04251" "04251" "2022-02-07 22:27:08" "" "" "?" "DNA" "" "" "0000403829" "00402587" "1" "04251" "04251" "2022-02-07 22:44:07" "" "" "?" "DNA" "" "" "0000403830" "00402588" "1" "04251" "04251" "2022-02-07 22:49:44" "" "" "SEQ-NG" "DNA" "" "" "0000427466" "00426146" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450100" "00448520" "1" "00006" "00006" "2024-03-22 00:56:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450101" "00448521" "1" "00006" "00006" "2024-03-22 01:02:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000395603" "JAG1" "0000402908" "PLCB4" "0000403827" "PLCB4" "0000403828" "PLCB4" "0000403829" "PLCB4" "0000403830" "PLCB4" ## 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 = 42 "{{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}}" "0000249261" "0" "10" "20" "9401940" "9401940" "subst" "0.0717131" "02325" "PLCB4_000007" "g.9401940A>G" "" "" "" "PLCB4(NM_001172646.2):c.2155-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9421293A>G" "" "benign" "" "0000297072" "0" "10" "20" "9401928" "9401928" "subst" "0.0727685" "02325" "PLCB4_000003" "g.9401928G>A" "" "" "" "PLCB4(NM_001172646.2):c.2155-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9421281G>A" "" "benign" "" "0000297073" "0" "10" "20" "9288522" "9288522" "subst" "0.597214" "02325" "PLCB4_000001" "g.9288522G>A" "" "" "" "PLCB4(NM_001172646.2):c.61G>A (p.A21T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9307875G>A" "" "benign" "" "0000328298" "0" "50" "20" "9376257" "9376257" "subst" "6.10859E-5" "01804" "PLCB4_000002" "g.9376257T>C" "" "" "" "PLCB4(NM_000933.3):c.1502T>C (p.(Ile501Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9395610T>C" "" "VUS" "" "0000328300" "0" "50" "20" "9402115" "9402115" "subst" "4.07528E-6" "01804" "PLCB4_000004" "g.9402115C>T" "" "" "" "PLCB4(NM_000933.3):c.2283+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9421468C>T" "" "VUS" "" "0000328301" "0" "50" "20" "9404602" "9404602" "subst" "0" "01804" "PLCB4_000005" "g.9404602A>G" "" "" "" "PLCB4(NM_000933.3):c.2488+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9423955A>G" "" "VUS" "" "0000344858" "0" "90" "20" "9376172" "9376172" "subst" "0" "02327" "PLCB4_000006" "g.9376172C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9395525C>T" "" "pathogenic" "" "0000570433" "0" "50" "20" "9353719" "9353719" "subst" "0" "01804" "PLCB4_000008" "g.9353719A>G" "" "" "" "PLCB4(NM_000933.3):c.712A>G (p.(Thr238Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9373072A>G" "" "VUS" "" "0000570435" "0" "30" "20" "9391733" "9391733" "subst" "3.25876E-5" "01804" "PLCB4_000010" "g.9391733C>T" "" "" "" "PLCB4(NM_000933.3):c.2013C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9411086C>T" "" "likely benign" "" "0000570436" "0" "50" "20" "9404501" "9404501" "subst" "8.13253E-6" "01804" "PLCB4_000012" "g.9404501G>A" "" "" "" "PLCB4(NM_000933.3):c.2390G>A (p.(Arg797Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9423854G>A" "" "VUS" "" "0000650832" "1" "90" "20" "9389733" "9389733" "subst" "0" "03575" "PLCB4_000014" "g.9389733A>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397514480}" "Germline" "" "rs397514480" "0" "" "" "g.9409086A>G" "" "pathogenic" "" "0000650833" "1" "30" "20" "9424868" "9424868" "subst" "0.00321614" "03575" "PLCB4_000015" "g.9424868C>A" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs148347249}" "Germline" "" "rs148347249" "0" "" "" "g.9444221C>A" "" "likely benign" "" "0000727869" "0" "90" "20" "9389726" "9389726" "subst" "0" "02329" "PLCB4_000016" "g.9389726C>T" "" "" "" "PLCB4(NM_000933.4):c.1861C>T (p.R621C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809355" "0" "30" "20" "9438055" "9438055" "subst" "0.00124841" "01943" "PLCB4_000017" "g.9438055T>C" "" "" "" "PLCB4(NM_000933.3):c.2961-6T>C (p.(=)), PLCB4(NM_001172646.1):c.2997-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000826991" "0" "90" "20" "9200001" "17900000" "del" "0" "00000" "JAG1_000783" "g.9200001_17900000del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "JAG1 del20p12.1-p12.2," "heterozygous" "Unknown" "?" "" "0" "" "" "g.9200001_17900000del" "" "pathogenic" "" "0000837199" "0" "90" "20" "9365009" "9365009" "subst" "0" "04251" "PLCB4_000018" "g.9365009G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000839394" "0" "90" "20" "9388657" "9388657" "subst" "0" "04251" "PLCB4_000020" "g.9388657A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000839395" "0" "90" "20" "9389726" "9389726" "subst" "0" "04251" "PLCB4_000016" "g.9389726C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000839396" "0" "90" "20" "9389727" "9389727" "subst" "0" "04251" "PLCB4_000021" "g.9389727G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000839397" "3" "90" "20" "9388572" "9388572" "dup" "0" "04251" "PLCB4_000019" "g.9388572dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.9407925dup" "" "pathogenic (recessive)" "" "0000855945" "0" "30" "20" "9371270" "9371270" "subst" "4.50273E-5" "01943" "PLCB4_000023" "g.9371270T>C" "" "" "" "PLCB4(NM_001172646.1):c.1323+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855946" "0" "50" "20" "9424868" "9424868" "subst" "0.00321614" "02325" "PLCB4_000015" "g.9424868C>A" "" "" "" "PLCB4(NM_000933.3):c.2822C>A (p.(Ser941Tyr)), PLCB4(NM_000933.4):c.2822C>A (p.S941Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855947" "0" "50" "20" "9459604" "9459604" "subst" "0.000101651" "01943" "PLCB4_000024" "g.9459604G>A" "" "" "" "PLCB4(NM_001172646.1):c.3532G>A (p.E1178K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866604" "0" "50" "20" "9360789" "9360789" "subst" "0.000270652" "01943" "PLCB4_000022" "g.9360789A>T" "" "" "" "PLCB4(NM_001172646.1):c.833A>T (p.D278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895442" "0" "90" "20" "9389727" "9389727" "subst" "0" "02327" "PLCB4_000021" "g.9389727G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000904826" "3" "70" "20" "9424678" "9424678" "subst" "0" "00006" "PLCB4_000025" "g.9424678G>C" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001172646.2:c.2814+1G>C" "" "Germline" "" "" "0" "" "" "g.9444031G>C" "" "likely pathogenic (recessive)" "" "0000951489" "0" "30" "20" "9438055" "9438055" "subst" "0.00124841" "01804" "PLCB4_000017" "g.9438055T>C" "" "" "" "PLCB4(NM_000933.3):c.2961-6T>C (p.(=)), PLCB4(NM_001172646.1):c.2997-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970270" "0" "30" "20" "9424868" "9424868" "subst" "0.00321614" "01804" "PLCB4_000015" "g.9424868C>A" "" "" "" "PLCB4(NM_000933.3):c.2822C>A (p.(Ser941Tyr)), PLCB4(NM_000933.4):c.2822C>A (p.S941Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972034" "0" "90" "20" "9389726" "9389726" "subst" "0" "00006" "PLCB4_000016" "g.9389726C>T" "" "{PMID:Lin 2024:38414442}" "" "" "" "De novo" "" "" "0" "" "" "g.9409079C>T" "" "pathogenic (dominant)" "" "0000972035" "0" "70" "20" "9318715" "9318715" "subst" "0" "00006" "PLCB4_000026" "g.9318715G>A" "" "{PMID:Lin 2024:38414442}" "" "" "" "De novo" "" "" "0" "" "" "g.9338068G>A" "" "likely pathogenic (dominant)" "" "0000983941" "0" "30" "20" "9319600" "9319600" "subst" "0" "01804" "PLCB4_000027" "g.9319600G>A" "" "" "" "PLCB4(NM_001377142.1):c.285G>A (p.(Gly95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983942" "0" "30" "20" "9360697" "9360697" "subst" "0" "01804" "PLCB4_000028" "g.9360697A>G" "" "" "" "PLCB4(NM_001377142.1):c.745-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983943" "0" "30" "20" "9364916" "9364916" "subst" "0.000471047" "01804" "PLCB4_000029" "g.9364916C>T" "" "" "" "PLCB4(NM_001377142.1):c.922C>T (p.(Arg308Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983944" "0" "30" "20" "9400565" "9400565" "subst" "4.06679E-6" "01804" "PLCB4_000030" "g.9400565C>T" "" "" "" "PLCB4(NM_001377142.1):c.2154+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005626" "0" "50" "20" "9401965" "9401965" "subst" "0" "01804" "PLCB4_000031" "g.9401965T>C" "" "" "" "PLCB4(NM_000933.3):c.2140T>C (p.(Ser714Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005627" "0" "50" "20" "9402082" "9402082" "subst" "0" "01804" "PLCB4_000032" "g.9402082A>G" "" "" "" "PLCB4(NM_000933.3):c.2257A>G (p.(Asn753Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005628" "0" "50" "20" "9434025" "9434025" "subst" "2.85395E-5" "01804" "PLCB4_000033" "g.9434025C>T" "" "" "" "PLCB4(NM_000933.3):c.2876C>T (p.(Thr959Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043539" "0" "30" "20" "9295677" "9295677" "subst" "0" "01804" "PLCB4_000034" "g.9295677C>G" "" "" "" "PLCB4(NM_001377142.1):c.84+7132C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043540" "0" "30" "20" "9318160" "9318160" "subst" "0" "01804" "PLCB4_000035" "g.9318160G>C" "" "" "" "PLCB4(NM_001377142.1):c.165+307G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043541" "0" "50" "20" "9374311" "9374311" "subst" "0" "01804" "PLCB4_000036" "g.9374311C>T" "" "" "" "PLCB4(NM_001377142.1):c.1400C>T (p.(Pro467Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043542" "0" "50" "20" "9389283" "9389283" "subst" "5.75213E-5" "01804" "PLCB4_000037" "g.9389283G>A" "" "" "" "PLCB4(NM_001377142.1):c.1793G>A (p.(Arg598His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043544" "0" "50" "20" "9440349" "9440349" "subst" "0" "01804" "PLCB4_000038" "g.9440349A>T" "" "" "" "PLCB4(NM_001377142.1):c.3140A>T (p.(Glu1047Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLCB4 ## Count = 62 "{{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}}" "0000249261" "00016299" "10" "2119" "-4" "2119" "-4" "c.2119-4A>G" "r.spl?" "p.?" "" "0000297072" "00016299" "10" "2119" "-16" "2119" "-16" "c.2119-16G>A" "r.(=)" "p.(=)" "" "0000297073" "00016299" "10" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Ala21Thr)" "" "0000328298" "00016299" "50" "1502" "0" "1502" "0" "c.1502T>C" "r.(?)" "p.(Ile501Thr)" "" "0000328300" "00016299" "50" "2283" "7" "2283" "7" "c.2283+7C>T" "r.(=)" "p.(=)" "" "0000328301" "00016299" "50" "2488" "3" "2488" "3" "c.2488+3A>G" "r.spl?" "p.?" "" "0000344858" "00016299" "90" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Gln473Ter)" "" "0000570433" "00016299" "50" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Thr238Ala)" "" "0000570435" "00016299" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Cys671=)" "" "0000570436" "00016299" "50" "2390" "0" "2390" "0" "c.2390G>A" "r.(?)" "p.(Arg797Gln)" "" "0000650832" "00016299" "90" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Tyr623Cys)" "" "0000650833" "00016299" "30" "2822" "0" "2822" "0" "c.2822C>A" "r.(?)" "p.(Ser941Tyr)" "" "0000727869" "00016299" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" "" "0000809355" "00016299" "30" "2961" "-6" "2961" "-6" "c.2961-6T>C" "r.(=)" "p.(=)" "" "0000826991" "00016299" "90" "-88461" "0" "8388607" "0" "c.-88461_*8440344del" "r.0?" "p.0?" "" "0000837199" "00016299" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Gly339Arg)" "" "0000839394" "00016299" "90" "1705" "0" "1705" "0" "c.1705A>T" "r.(?)" "p.(Ile569Phe)" "" "0000839395" "00016299" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" "" "0000839396" "00016299" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000839397" "00016299" "90" "1620" "0" "1620" "0" "c.1620dup" "r.(?)" "p.(Thr541Hisfs*5)" "" "0000855945" "00025919" "30" "1323" "8" "1323" "8" "c.1323+8T>C" "r.(=)" "p.(=)" "" "0000855945" "00016299" "30" "1323" "8" "1323" "8" "c.1323+8T>C" "r.(=)" "p.(=)" "" "0000855946" "00025919" "50" "2858" "0" "2858" "0" "c.2858C>A" "r.(?)" "p.(Ser953Tyr)" "" "0000855946" "00016299" "50" "2822" "0" "2822" "0" "c.2822C>A" "r.(?)" "p.(Ser941Tyr)" "" "0000855947" "00025919" "50" "3569" "0" "3569" "0" "c.3569G>A" "r.(?)" "p.(Arg1190Gln)" "" "0000855947" "00016299" "50" "3533" "0" "3533" "0" "c.3533G>A" "r.(?)" "p.(Arg1178Gln)" "" "0000866604" "00025919" "50" "833" "0" "833" "0" "c.833A>T" "r.(?)" "p.(Asp278Val)" "" "0000866604" "00016299" "50" "833" "0" "833" "0" "c.833A>T" "r.(?)" "p.(Asp278Val)" "" "0000895442" "00025919" "90" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Arg633His)" "" "0000895442" "00016299" "90" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000904826" "00016299" "70" "2778" "1" "2778" "1" "c.2778+1G>C" "" "" "" "0000951489" "00016299" "30" "2961" "-6" "2961" "-6" "c.2961-6T>C" "r.(=)" "p.(=)" "" "0000970270" "00025919" "30" "2858" "0" "2858" "0" "c.2858C>A" "r.(?)" "p.(Ser953Tyr)" "" "0000970270" "00016299" "30" "2822" "0" "2822" "0" "c.2822C>A" "r.(?)" "p.(Ser941Tyr)" "" "0000972034" "00025919" "90" "1897" "0" "1897" "0" "c.1897C>T" "r.(?)" "p.(Arg633Cys)" "" "0000972034" "00016299" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" "" "0000972035" "00025919" "70" "225" "1" "225" "1" "c.225+1G>A" "r.spl" "p.?" "" "0000972035" "00016299" "70" "225" "1" "225" "1" "c.225+1G>A" "r.spl" "p.?" "" "0000983941" "00025919" "30" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Gly95=)" "" "0000983941" "00016299" "30" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(=)" "" "0000983942" "00025919" "30" "745" "-4" "745" "-4" "c.745-4A>G" "r.spl?" "p.?" "" "0000983942" "00016299" "30" "745" "-4" "745" "-4" "c.745-4A>G" "r.spl?" "p.?" "" "0000983943" "00025919" "30" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Cys)" "" "0000983943" "00016299" "30" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Cys)" "" "0000983944" "00025919" "30" "2154" "9" "2154" "9" "c.2154+9C>T" "r.(=)" "p.(=)" "" "0000983944" "00016299" "30" "2118" "9" "2118" "9" "c.2118+9C>T" "r.(=)" "p.(=)" "" "0001005626" "00025919" "50" "2176" "0" "2176" "0" "c.2176T>C" "r.(?)" "p.(Ser726Pro)" "" "0001005626" "00016299" "50" "2140" "0" "2140" "0" "c.2140T>C" "r.(?)" "p.(Ser714Pro)" "" "0001005627" "00025919" "50" "2293" "0" "2293" "0" "c.2293A>G" "r.(?)" "p.(Asn765Asp)" "" "0001005627" "00016299" "50" "2257" "0" "2257" "0" "c.2257A>G" "r.(?)" "p.(Asn753Asp)" "" "0001005628" "00025919" "50" "2912" "0" "2912" "0" "c.2912C>T" "r.(?)" "p.(Thr971Met)" "" "0001005628" "00016299" "50" "2876" "0" "2876" "0" "c.2876C>T" "r.(?)" "p.(Thr959Met)" "" "0001043539" "00025919" "30" "84" "7132" "84" "7132" "c.84+7132C>G" "r.(=)" "p.(=)" "" "0001043539" "00016299" "30" "84" "7132" "84" "7132" "c.84+7132C>G" "r.(=)" "p.(=)" "" "0001043540" "00025919" "30" "165" "307" "165" "307" "c.165+307G>C" "r.(=)" "p.(=)" "" "0001043540" "00016299" "30" "165" "307" "165" "307" "c.165+307G>C" "r.(=)" "p.(=)" "" "0001043541" "00025919" "50" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "" "0001043541" "00016299" "50" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Pro467Leu)" "" "0001043542" "00025919" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" "" "0001043542" "00016299" "50" "1757" "0" "1757" "0" "c.1757G>A" "r.(?)" "p.(Arg586His)" "" "0001043544" "00025919" "50" "3140" "0" "3140" "0" "c.3140A>T" "r.(?)" "p.(Glu1047Val)" "" "0001043544" "00016299" "50" "3104" "0" "3104" "0" "c.3104A>T" "r.(?)" "p.(Glu1035Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000294143" "0000650832" "0000294144" "0000650833" "0000395603" "0000826991" "0000402908" "0000837199" "0000403827" "0000839395" "0000403828" "0000839394" "0000403829" "0000839396" "0000403830" "0000839397" "0000427466" "0000904826" "0000450100" "0000972034" "0000450101" "0000972035"