### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BNC2) # 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}}" "BNC2" "basonuclin 2" "9" "p22.2" "unknown" "NG_051226.1" "UD_132438330058" "" "https://www.LOVD.nl/BNC2" "" "1" "30988" "54796" "608669" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BNC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-07 12:28:23" "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}}" "00003446" "BNC2" "basonuclin 2" "001" "NM_017637.5" "" "NP_060107.3" "" "" "" "-140" "12786" "3300" "16870786" "16409501" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "06832" "LUTO" "Lower urinary tract obstruction, congenital" "AD" "618612" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BNC2" "06832" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00016189" "" "" "" "11" "" "00671" "{PMID:Zhang 2014:24729547}" "4-generation family, 11 affected (5F, 6M)" "F;M" "no" "China" "" "0" "" "" "Chinese" "" "00294829" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305245" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00016189" "00350" "00294829" "00198" "00305245" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 06832 ## Count = 1 "{{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}}" "0000142766" "00350" "00016189" "00006" "Familial, autosomal dominant" "" "nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning" "" "" "" "" "" "" "" "" "DFNA-65" "hearing impairment" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181308" "00016189" "1" "00006" "00006" "2018-09-05 21:23:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295997" "00294829" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306374" "00305245" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000181308" "TBC1D24" ## 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 = 17 "{{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}}" "0000405009" "1" "50" "9" "16436321" "16436321" "subst" "4.0778E-5" "00006" "BNC2_000001" "g.16436321C>G" "" "{PMID:Zhang 2014:24729547}" "" "" "" "Germline" "no" "" "0" "" "" "g.16436323C>G" "" "VUS" "" "0000652686" "1" "30" "9" "16419519" "16419519" "subst" "0.0201056" "03575" "BNC2_000002" "g.16419519G>A" "36/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous; {DB:CLININrs117452684}" "Germline" "" "rs117452684" "0" "" "" "g.16419521G>A" "" "likely benign" "" "0000670062" "3" "30" "9" "16419519" "16419519" "subst" "0.0201056" "03575" "BNC2_000002" "g.16419519G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs117452684}" "Germline" "" "rs117452684" "0" "" "" "g.16419521G>A" "" "likely benign" "" "0000852223" "0" "10" "9" "16437256" "16437256" "subst" "0.00297902" "02326" "BNC2_000004" "g.16437256G>A" "" "" "" "BNC2(NM_017637.5):c.936C>T (p.F312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861597" "0" "30" "9" "16436244" "16436244" "subst" "0.000980624" "02326" "BNC2_000003" "g.16436244C>T" "" "" "" "BNC2(NM_017637.5):c.1948G>A (p.A650T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913138" "0" "10" "9" "16436324" "16436324" "subst" "0.00205142" "02326" "BNC2_000005" "g.16436324G>T" "" "" "" "BNC2(NM_017637.5):c.1868C>A (p.P623H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978639" "0" "10" "9" "16435848" "16435848" "subst" "0.0172121" "01804" "BNC2_000006" "g.16435848T>C" "" "" "" "BNC2(NM_017637.6):c.2344A>G (p.(Thr782Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997787" "0" "30" "9" "16419198" "16419198" "subst" "4.07136E-6" "01804" "BNC2_000007" "g.16419198C>T" "" "" "" "BNC2(NM_017637.5):c.3089G>A (p.(Gly1030Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997788" "0" "50" "9" "16435778" "16435778" "subst" "1.62719E-5" "01804" "BNC2_000008" "g.16435778T>C" "" "" "" "BNC2(NM_017637.5):c.2414A>G (p.(His805Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997789" "0" "50" "9" "16436390" "16436390" "subst" "2.03945E-5" "01804" "BNC2_000009" "g.16436390A>G" "" "" "" "BNC2(NM_017637.5):c.1802T>C (p.(Ile601Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997790" "0" "50" "9" "16437248" "16437248" "subst" "0" "02325" "BNC2_000010" "g.16437248A>G" "" "" "" "BNC2(NM_017637.6):c.941T>C (p.F314S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997791" "0" "30" "9" "16552572" "16552572" "subst" "4.06461E-6" "01804" "BNC2_000011" "g.16552572G>A" "" "" "" "BNC2(NM_017637.5):c.625C>T (p.(Leu209Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997792" "0" "30" "9" "16738364" "16738364" "subst" "8.12486E-6" "01804" "BNC2_000012" "g.16738364T>A" "" "" "" "BNC2(NM_017637.5):c.123A>T (p.(Gln41His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014524" "0" "30" "9" "16419498" "16419498" "subst" "0.00269507" "02326" "BNC2_000013" "g.16419498T>C" "" "" "" "BNC2(NM_017637.5):c.2789A>G (p.D930G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025649" "0" "50" "9" "16419345" "16419345" "subst" "0" "02329" "BNC2_000014" "g.16419345T>A" "" "" "" "BNC2(NM_017637.5):c.2942A>T (p.D981V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037424" "0" "30" "9" "16419367" "16419367" "subst" "0.00882984" "01804" "BNC2_000015" "g.16419367T>C" "" "" "" "BNC2(NM_017637.6):c.2920A>G (p.(Ile974Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037425" "0" "30" "9" "16436952" "16436952" "subst" "0.00747406" "01804" "BNC2_000016" "g.16436952G>C" "" "" "" "BNC2(NM_017637.6):c.1240C>G (p.(Leu414Val))" "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 BNC2 ## Count = 17 "{{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}}" "0000405009" "00003446" "50" "1871" "0" "1871" "0" "c.1871G>C" "r.(?)" "p.(Ser624Thr)" "" "0000652686" "00003446" "30" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Ala923Val)" "" "0000670062" "00003446" "30" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Ala923Val)" "" "0000852223" "00003446" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Phe312=)" "" "0000861597" "00003446" "30" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Ala650Thr)" "" "0000913138" "00003446" "10" "1868" "0" "1868" "0" "c.1868C>A" "r.(?)" "p.(Pro623His)" "" "0000978639" "00003446" "10" "2344" "0" "2344" "0" "c.2344A>G" "r.(?)" "p.(Thr782Ala)" "" "0000997787" "00003446" "30" "3089" "0" "3089" "0" "c.3089G>A" "r.(?)" "p.(Gly1030Glu)" "" "0000997788" "00003446" "50" "2414" "0" "2414" "0" "c.2414A>G" "r.(?)" "p.(His805Arg)" "" "0000997789" "00003446" "50" "1802" "0" "1802" "0" "c.1802T>C" "r.(?)" "p.(Ile601Thr)" "" "0000997790" "00003446" "50" "944" "0" "944" "0" "c.944T>C" "r.(?)" "p.(Ile315Thr)" "" "0000997791" "00003446" "30" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Leu209Phe)" "" "0000997792" "00003446" "30" "123" "0" "123" "0" "c.123A>T" "r.(?)" "p.(Gln41His)" "" "0001014524" "00003446" "30" "2789" "0" "2789" "0" "c.2789A>G" "r.(?)" "p.(Asp930Gly)" "" "0001025649" "00003446" "50" "2942" "0" "2942" "0" "c.2942A>T" "r.(?)" "p.(Asp981Val)" "" "0001037424" "00003446" "30" "2920" "0" "2920" "0" "c.2920A>G" "r.(?)" "p.(Ile974Val)" "" "0001037425" "00003446" "30" "1240" "0" "1240" "0" "c.1240C>G" "r.(?)" "p.(Leu414Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000181308" "0000405009" "0000295997" "0000652686" "0000306374" "0000670062"