### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BPIFB6) # 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}}" "BPIFB6" "BPI fold containing family B member 6" "20" "q11.21" "unknown" "NC_000020.10" "UD_145622775591" "" "https://www.LOVD.nl/BPIFB6" "" "1" "16504" "128859" "614110" "1" "1" "1" "1" "Alias BPIL3.\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/BPIFB6_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-07 00:00:00" "00006" "2020-12-11 17:13:40" "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}}" "00024395" "BPIFB6" "BPI fold containing family B, member 6" "001" "NM_174897.2" "" "NP_777557.1" "" "" "" "1" "1362" "1362" "31619454" "31631853" "00000" "2017-08-07 17:20:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00324411" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}, {PMID:Gabriele 2017:28575647}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio3;Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00324411" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139 ## 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}}" "0000242953" "00139" "00324411" "00006" "Isolated (sporadic)" "04y05m" "see paper; ..., birth weight 2,010g (SD-2.5), height 84cm (SD-3), OFC 48.5cm (SD-1); 1y-sit, 2y9m-walking; first words at 2 years; moderate intellectual disability; no hypotonia; anxiety; no sleep disturbance; no abnormal movement; facial asymmetry; broad forehead; simple posteriorly rotated ears; mild periorbital fullness; no downslant; full nasal tip; malar flattening; indented upper lip; thick lower lip; pointed chin; telecanthus; no anomalies extremities; feeding problems; no recurrent infections; no eye abnormalities; hydronephrosis; no cardiac abnormalities; lacrimal duct stenosis" "" "02y09m" "" "" "" "" "" "GADEVS" "intellectual disability" ## 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}}" "0000325601" "00324411" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000325601" "YY1" ## 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 = 6 "{{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}}" "0000569380" "0" "30" "20" "31622681" "31622681" "subst" "0" "01804" "BPIFB6_000001" "g.31622681G>A" "" "" "" "BPIFB6(NM_174897.2):c.415G>A (p.(Val139Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33034875G>A" "" "likely benign" "" "0000658742" "0" "50" "20" "31620843" "31620843" "subst" "4.46671E-5" "01804" "BPIFB6_000003" "g.31620843G>T" "" "" "" "BPIFB6(NM_174897.2):c.151G>T (p.(Ala51Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33033037G>T" "" "VUS" "" "0000708726" "0" "50" "20" "31626755" "31626755" "subst" "8.12137E-6" "00006" "BPIFB6_000004" "g.31626755G>A" "" "{PMID:Vissers 2010:21076407}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0001005335" "0" "30" "20" "31626754" "31626754" "subst" "0.0005685" "01804" "BPIFB6_000005" "g.31626754C>T" "" "" "" "BPIFB6(NM_174897.2):c.886C>T (p.(Arg296Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043309" "0" "30" "20" "31624252" "31624252" "subst" "0.0019837" "01804" "BPIFB6_000006" "g.31624252C>A" "" "" "" "BPIFB6(NM_174897.2):c.579C>A (p.(Asp193Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043310" "0" "30" "20" "31631108" "31631108" "subst" "9.74738E-5" "01804" "BPIFB6_000007" "g.31631108G>C" "" "" "" "BPIFB6(NM_174897.2):c.1264G>C (p.(Val422Leu))" "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 BPIFB6 ## Count = 6 "{{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}}" "0000569380" "00024395" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Ile)" "" "0000658742" "00024395" "50" "151" "0" "151" "0" "c.151G>T" "r.(?)" "p.(Ala51Ser)" "" "0000708726" "00024395" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296His)" "" "0001005335" "00024395" "30" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(Arg296Cys)" "" "0001043309" "00024395" "30" "579" "0" "579" "0" "c.579C>A" "r.(?)" "p.(Asp193Glu)" "" "0001043310" "00024395" "30" "1264" "0" "1264" "0" "c.1264G>C" "r.(?)" "p.(Val422Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000325601" "0000708726"