### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLCB3) # 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}}" "PLCB3" "phospholipase C, beta 3 (phosphatidylinositol-specific)" "11" "q13" "unknown" "NC_000011.9" "UD_132465511303" "" "https://www.LOVD.nl/PLCB3" "" "1" "9056" "5331" "600230" "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" "2018-12-01 15:36:03" "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}}" "00016298" "PLCB3" "transcript variant 1" "001" "NM_000932.2" "" "NP_000923.1" "" "" "" "-127" "5601" "3705" "64018995" "64036924" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05339" "CHTD" "disease, heart, congenital (CHTD)" "" "" "" "" "" "00006" "2017-11-05 11:35:27" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00207812" "" "" "" "2" "" "00006" "{PMID:Ben-Salem 2018:29122926}" "4-generation family, 2 affected cousins, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "29122926-Fam" "00385552" "" "" "" "1" "" "00006" "{PMID:Ritelli 2018:28386937}" "" "F" "" "Italy" "" "0" "" "" "" "Fam2Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00207812" "00198" "00385552" "05339" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05339 ## Count = 2 "{{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}}" "0000155596" "00198" "00207812" "00006" "Familial, autosomal recessive" "" "postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving spine, pelvis and metaphyses, corneal\r\nclouding and intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000279500" "05339" "00385552" "00006" "Isolated (sporadic)" "15y" "facial dysmorphism; hearing loss/recurrent otitis; heart anomalies; mitral valve dystrophy/insufficiency; tricuspid valve dystrophy/insufficiency.; aortic valve dystrophy/insufficiency; atrial septum aneurysm; arrhythmias; other soft connective tissues; abnormal skin texture; joint hypermobility; habitus/orthopedics; short stature; short limbs; neurinoma; palmoplantar keratoderma" "" "" "" "" "" "" "" "" "CHTD2;MDM" "congenital heart defect, palmoplantar keratoderma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208854" "00207812" "1" "00006" "00006" "2018-12-01 15:42:09" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000386781" "00385552" "1" "00006" "00006" "2021-10-12 19:25:07" "00006" "2021-10-13 12:41:37" "arrayCGH;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000208854" "PLCB3" "0000386781" "TAB2" ## 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 = 18 "{{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}}" "0000322284" "0" "50" "11" "64022222" "64022222" "subst" "0.00358964" "01804" "PLCB3_000001" "g.64022222G>A" "" "" "" "PLCB3(NM_000932.2):c.180G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64254750G>A" "" "VUS" "" "0000322285" "0" "30" "11" "64032784" "64032784" "subst" "0.00520176" "01804" "PLCB3_000002" "g.64032784G>A" "" "" "" "PLCB3(NM_000932.2):c.2845G>A (p.(Val949Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.64265312G>A" "" "likely benign" "" "0000438855" "3" "90" "11" "64031564" "64031564" "subst" "1.59055E-5" "00006" "PLCB3_000003" "g.64031564G>T" "" "{PMID:Ben-Salem 2018:29122926}" "" "" "" "Germline" "yes" "" "0" "" "" "g.64264092G>T" "" "pathogenic" "" "0000544833" "0" "10" "11" "64031241" "64031241" "subst" "0.0495732" "02326" "PLCB3_000004" "g.64031241C>T" "" "" "" "PLCB3(NM_000932.3):c.2534C>T (p.S845L), PLCB3(NM_000932.5):c.2534C>T (p.(Ser845Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64263769C>T" "" "benign" "" "0000544836" "0" "30" "11" "64037784" "64037784" "subst" "0" "01804" "BAD_000003" "g.64037784G>A" "" "" "" "BAD(NM_004322.3):c.404C>T (p.(Ala135Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64270312G>A" "" "likely benign" "" "0000613515" "0" "50" "11" "64026046" "64026046" "subst" "0" "01943" "PLCB3_000005" "g.64026046G>A" "" "" "" "PLCB3(NM_000932.2):c.1114G>A (p.E372K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64258574G>A" "" "VUS" "" "0000814692" "0" "70" "11" "64023045" "64023045" "subst" "0" "00006" "PLCB3_000006" "g.64023045G>T" "" "{PMID:Ritelli 2018:28386937}" "" "NM_001184883:c.353>TG" "" "De novo" "" "" "0" "" "" "g.64255573G>T" "" "VUS" "" "0000862620" "0" "30" "11" "64033961" "64033961" "subst" "4.06392E-5" "02326" "BAD_000006" "g.64033961G>A" "" "" "" "PLCB3(NM_000932.3):c.3357-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890036" "0" "30" "11" "64026408" "64026408" "subst" "0.000178862" "02326" "PLCB3_000007" "g.64026408C>T" "" "" "" "PLCB3(NM_000932.3):c.1305C>T (p.D435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929938" "0" "30" "11" "64026024" "64026024" "subst" "8.1285E-6" "02326" "PLCB3_000008" "g.64026024C>T" "" "" "" "PLCB3(NM_000932.3):c.1092C>T (p.D364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949739" "0" "30" "11" "64022694" "64022694" "subst" "4.07475E-6" "02326" "PLCB3_000009" "g.64022694C>T" "" "" "" "PLCB3(NM_000932.3):c.388-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949740" "0" "10" "11" "64031030" "64031030" "subst" "0.00360024" "01804" "PLCB3_000010" "g.64031030G>A" "" "" "" "PLCB3(NM_000932.2):c.2416G>A (p.(Val806Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949741" "0" "30" "11" "64034960" "64034960" "subst" "0.001701" "01804" "BAD_000007" "g.64034960G>A" "" "" "" "PLCB3(NM_000932.2):c.3637G>A (p.(Ala1213Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999214" "0" "30" "11" "64031574" "64031574" "subst" "5.52749E-6" "01804" "PLCB3_000011" "g.64031574G>A" "" "" "" "PLCB3(NM_000932.2):c.2642G>A (p.(Gly881Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038569" "0" "30" "11" "64023008" "64023008" "subst" "2.43655E-5" "01804" "PLCB3_000012" "g.64023008A>C" "" "" "" "PLCB3(NM_000932.5):c.522-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038570" "0" "50" "11" "64023297" "64023297" "subst" "0" "01804" "PLCB3_000013" "g.64023297A>T" "" "" "" "PLCB3(NM_000932.5):c.698+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038572" "0" "30" "11" "64031241" "64031241" "subst" "0.0495732" "01804" "PLCB3_000004" "g.64031241C>T" "" "" "" "PLCB3(NM_000932.3):c.2534C>T (p.S845L), PLCB3(NM_000932.5):c.2534C>T (p.(Ser845Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038573" "0" "30" "11" "64033594" "64033594" "subst" "0.000398083" "01804" "BAD_000009" "g.64033594A>G" "" "" "" "PLCB3(NM_000932.5):c.3190-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLCB3 ## Count = 18 "{{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}}" "0000322284" "00016298" "50" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Glu60=)" "" "0000322285" "00016298" "30" "2845" "0" "2845" "0" "c.2845G>A" "r.(?)" "p.(Val949Met)" "" "0000438855" "00016298" "90" "2632" "0" "2632" "0" "c.2632G>T" "r.(?)" "p.(Ala878Ser)" "" "0000544833" "00016298" "10" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Ser845Leu)" "" "0000544836" "00016298" "30" "6461" "0" "6461" "0" "c.*2756G>A" "r.(=)" "p.(=)" "" "0000613515" "00016298" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Glu372Lys)" "" "0000814692" "00016298" "70" "554" "0" "554" "0" "c.554G>T" "r.(?)" "p.(Arg185Leu)" "" "0000862620" "00016298" "30" "3357" "-6" "3357" "-6" "c.3357-6G>A" "r.(=)" "p.(=)" "" "0000890036" "00016298" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Asp435=)" "" "0000929938" "00016298" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(=)" "" "0000949739" "00016298" "30" "388" "-12" "388" "-12" "c.388-12C>T" "r.(=)" "p.(=)" "" "0000949740" "00016298" "10" "2416" "0" "2416" "0" "c.2416G>A" "r.(?)" "p.(Val806Ile)" "" "0000949741" "00016298" "30" "3637" "0" "3637" "0" "c.3637G>A" "r.(?)" "p.(Ala1213Thr)" "" "0000999214" "00016298" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Gly881Glu)" "" "0001038569" "00016298" "30" "522" "-5" "522" "-5" "c.522-5A>C" "r.spl?" "p.?" "" "0001038570" "00016298" "50" "698" "4" "698" "4" "c.698+4A>T" "r.spl?" "p.?" "" "0001038572" "00016298" "30" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Ser845Leu)" "" "0001038573" "00016298" "30" "3190" "-4" "3190" "-4" "c.3190-4A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000208854" "0000438855" "0000386781" "0000814692"