### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VWA3B) # 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}}" "VWA3B" "von Willebrand factor A domain containing 3B" "2" "q11.2" "unknown" "NG_054753.1" "UD_132609737382" "" "https://www.LOVD.nl/VWA3B" "" "1" "28385" "200403" "614884" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VWA3B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-23 15:01:50" "00000" "2025-11-01 13:22:20" ## 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}}" "00022692" "VWA3B" "von Willebrand factor A domain containing 3B" "001" "NM_144992.4" "" "NP_659429.4" "" "" "" "-264" "4483" "3885" "98703595" "98929410" "" "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}}" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "05518" "SCAR22" "ataxia, spinocerebellar, autosomal recessive, type 22 (SCAR22)" "AR" "" "" "" "" "00006" "2018-11-16 19:55:28" "00006" "2020-01-23 15:01:06" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "VWA3B" "04201" "VWA3B" "05518" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04201, 05518 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 35 "{{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}}" "0000517225" "0" "30" "2" "98709679" "98709679" "subst" "0.00119408" "02325" "VWA3B_000001" "g.98709679C>A" "" "" "" "VWA3B(NM_144992.5):c.124C>A (p.L42M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98093216C>A" "" "likely benign" "" "0000517226" "0" "50" "2" "98709704" "98709704" "subst" "2.43706E-5" "02325" "VWA3B_000002" "g.98709704T>C" "" "" "" "VWA3B(NM_144992.5):c.149T>C (p.L50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98093241T>C" "" "VUS" "" "0000517227" "0" "30" "2" "98737884" "98737884" "subst" "0.00302215" "01943" "VWA3B_000003" "g.98737884G>A" "" "" "" "VWA3B(NM_144992.4):c.665G>A (p.R222H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98121421G>A" "" "likely benign" "" "0000517228" "0" "30" "2" "98779343" "98779343" "subst" "0.000186864" "01943" "VWA3B_000004" "g.98779343G>A" "" "" "" "VWA3B(NM_144992.4):c.1018G>A (p.V340I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98162880G>A" "" "likely benign" "" "0000517229" "0" "30" "2" "98804568" "98804568" "subst" "0" "01943" "VWA3B_000005" "g.98804568C>T" "" "" "" "VWA3B(NM_144992.4):c.1442C>T (p.T481I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98188105C>T" "" "likely benign" "" "0000517230" "0" "30" "2" "98828476" "98828476" "subst" "0" "01943" "VWA3B_000006" "g.98828476T>C" "" "" "" "VWA3B(NM_144992.4):c.1821T>C (p.D607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98212013T>C" "" "likely benign" "" "0000517231" "0" "50" "2" "98834414" "98834414" "del" "0" "01943" "VWA3B_000007" "g.98834414del" "" "" "" "VWA3B(NM_144992.4):c.1942delG (p.V648Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98217951del" "" "VUS" "" "0000517232" "0" "30" "2" "98872610" "98872610" "subst" "0.00136634" "02325" "VWA3B_000008" "g.98872610G>A" "" "" "" "VWA3B(NM_144992.5):c.2816G>A (p.R939Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98256147G>A" "" "likely benign" "" "0000517233" "0" "30" "2" "98914485" "98914485" "subst" "0.000129669" "01943" "VWA3B_000009" "g.98914485G>A" "" "" "" "VWA3B(NM_144992.4):c.3273G>A (p.P1091=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98298022G>A" "" "likely benign" "" "0000517234" "0" "30" "2" "98928717" "98928717" "subst" "0" "01943" "VWA3B_000010" "g.98928717A>G" "" "" "" "VWA3B(NM_144992.4):c.3790A>G (p.I1264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98312254A>G" "" "likely benign" "" "0000608168" "0" "90" "2" "98736162" "98736162" "subst" "4.062E-6" "01943" "VWA3B_000011" "g.98736162C>T" "" "" "" "VWA3B(NM_144992.4):c.478C>T (p.R160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98119699C>T" "" "pathogenic" "" "0000608169" "0" "50" "2" "98810857" "98810857" "subst" "0" "01943" "VWA3B_000012" "g.98810857G>T" "" "" "" "VWA3B(NM_144992.4):c.1639G>T (p.V547L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98194394G>T" "" "VUS" "" "0000608170" "0" "30" "2" "98928336" "98928336" "subst" "0" "01943" "VWA3B_000013" "g.98928336G>A" "" "" "" "VWA3B(NM_144992.4):c.3576G>A (p.A1192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98311873G>A" "" "likely benign" "" "0000654746" "0" "50" "2" "98916665" "98916665" "subst" "4.06908E-6" "01943" "VWA3B_000014" "g.98916665T>C" "" "" "" "VWA3B(NM_144992.4):c.3406T>C (p.C1136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.98300202T>C" "" "VUS" "" "0000676750" "0" "30" "2" "98732124" "98732124" "subst" "1.62616E-5" "01943" "VWA3B_000015" "g.98732124C>T" "" "" "" "VWA3B(NM_144992.4):c.206C>T (p.A69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676751" "0" "50" "2" "98797614" "98797614" "subst" "0" "01943" "VWA3B_000016" "g.98797614A>T" "" "" "" "VWA3B(NM_144992.4):c.1250A>T (p.H417L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676752" "0" "30" "2" "98804493" "98804493" "subst" "0.000666645" "01943" "VWA3B_000017" "g.98804493C>T" "" "" "" "VWA3B(NM_144992.4):c.1367C>T (p.P456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688881" "0" "30" "2" "98810904" "98810904" "subst" "0.00465171" "01943" "VWA3B_000018" "g.98810904A>G" "" "" "" "VWA3B(NM_144992.4):c.1686A>G (p.E562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719097" "0" "30" "2" "98804586" "98804586" "subst" "4.95552E-5" "01943" "VWA3B_000019" "g.98804586G>A" "" "" "" "VWA3B(NM_144992.4):c.1460G>A (p.R487Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719098" "0" "50" "2" "98907070" "98907070" "subst" "0.000944137" "02325" "VWA3B_000020" "g.98907070G>A" "" "" "" "VWA3B(NM_144992.4):c.3142G>A (p.G1048S), VWA3B(NM_144992.5):c.3142G>A (p.(Gly1048Ser), p.G1048S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800865" "0" "50" "2" "98907070" "98907070" "subst" "0.000944137" "01943" "VWA3B_000020" "g.98907070G>A" "" "" "" "VWA3B(NM_144992.4):c.3142G>A (p.G1048S), VWA3B(NM_144992.5):c.3142G>A (p.(Gly1048Ser), p.G1048S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800866" "0" "50" "2" "98914438" "98914438" "subst" "2.65184E-5" "01943" "VWA3B_000021" "g.98914438G>A" "" "" "" "VWA3B(NM_144992.4):c.3226G>A (p.V1076M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800867" "0" "30" "2" "98920215" "98920215" "subst" "0.000268064" "01943" "VWA3B_000022" "g.98920215G>A" "" "" "" "VWA3B(NM_144992.4):c.3471G>A (p.A1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800868" "0" "30" "2" "98928804" "98928804" "subst" "0" "01943" "VWA3B_000023" "g.98928804A>T" "" "" "" "VWA3B(NM_144992.4):c.3877A>T (p.T1293S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850074" "0" "30" "2" "98852861" "98852861" "subst" "0" "01943" "VWA3B_000024" "g.98852861A>G" "" "" "" "VWA3B(NM_144992.4):c.2437A>G (p.I813V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885448" "0" "30" "2" "98846587" "98846587" "subst" "4.0997E-6" "01943" "VWA3B_000025" "g.98846587C>T" "" "" "" "VWA3B(NM_144992.4):c.2225C>T (p.T742I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962357" "0" "50" "2" "98736231" "98736231" "subst" "8.18378E-6" "02329" "VWA3B_000026" "g.98736231G>A" "" "" "" "VWA3B(NM_144992.5):c.542+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993099" "0" "50" "2" "98737771" "98737771" "subst" "2.84312E-5" "01804" "VWA3B_000027" "g.98737771A>T" "" "" "" "VWA3B(NM_144992.4):c.552A>T (p.(Gln184His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993100" "0" "50" "2" "98834386" "98834386" "subst" "4.07087E-6" "01804" "VWA3B_000028" "g.98834386T>G" "" "" "" "VWA3B(NM_144992.4):c.1914T>G (p.(Asp638Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993101" "0" "50" "2" "98914438" "98914438" "subst" "4.41973E-6" "01804" "VWA3B_000029" "g.98914438G>C" "" "" "" "VWA3B(NM_144992.4):c.3226G>C (p.(Val1076Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993102" "0" "30" "2" "98914459" "98914459" "subst" "0" "01804" "VWA3B_000030" "g.98914459C>T" "" "" "" "VWA3B(NM_144992.4):c.3247C>T (p.(Pro1083Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024692" "0" "50" "2" "98914423" "98914423" "subst" "3.10124E-5" "02325" "VWA3B_000031" "g.98914423G>A" "" "" "" "VWA3B(NM_144992.5):c.3211G>A (p.G1071R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045862" "0" "50" "2" "98709614" "98709614" "subst" "3.24971E-5" "02325" "VWA3B_000032" "g.98709614G>T" "" "" "" "VWA3B(NM_144992.5):c.59G>T (p.G20V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045863" "0" "50" "2" "98736075" "98736075" "subst" "4.06118E-5" "02325" "VWA3B_000033" "g.98736075C>T" "" "" "" "VWA3B(NM_144992.5):c.391C>T (p.R131W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050736" "0" "50" "2" "98907070" "98907070" "subst" "0.000944137" "01804" "VWA3B_000020" "g.98907070G>A" "" "" "" "VWA3B(NM_144992.4):c.3142G>A (p.G1048S), VWA3B(NM_144992.5):c.3142G>A (p.(Gly1048Ser), p.G1048S)" "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 VWA3B ## Count = 35 "{{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}}" "0000517225" "00022692" "30" "124" "0" "124" "0" "c.124C>A" "r.(?)" "p.(Leu42Met)" "" "0000517226" "00022692" "50" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Leu50Ser)" "" "0000517227" "00022692" "30" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000517228" "00022692" "30" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Val340Ile)" "" "0000517229" "00022692" "30" "1442" "0" "1442" "0" "c.1442C>T" "r.(?)" "p.(Thr481Ile)" "" "0000517230" "00022692" "30" "1821" "0" "1821" "0" "c.1821T>C" "r.(?)" "p.(Asp607=)" "" "0000517231" "00022692" "50" "1942" "0" "1942" "0" "c.1942del" "r.(?)" "p.(Val648LeufsTer4)" "" "0000517232" "00022692" "30" "2816" "0" "2816" "0" "c.2816G>A" "r.(?)" "p.(Arg939Gln)" "" "0000517233" "00022692" "30" "3273" "0" "3273" "0" "c.3273G>A" "r.(?)" "p.(Pro1091=)" "" "0000517234" "00022692" "30" "3790" "0" "3790" "0" "c.3790A>G" "r.(?)" "p.(Ile1264Val)" "" "0000608168" "00022692" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Ter)" "" "0000608169" "00022692" "50" "1639" "0" "1639" "0" "c.1639G>T" "r.(?)" "p.(Val547Leu)" "" "0000608170" "00022692" "30" "3576" "0" "3576" "0" "c.3576G>A" "r.(?)" "p.(Ala1192=)" "" "0000654746" "00022692" "50" "3406" "0" "3406" "0" "c.3406T>C" "r.(?)" "p.(Cys1136Arg)" "" "0000676750" "00022692" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ala69Val)" "" "0000676751" "00022692" "50" "1250" "0" "1250" "0" "c.1250A>T" "r.(?)" "p.(His417Leu)" "" "0000676752" "00022692" "30" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Pro456Leu)" "" "0000688881" "00022692" "30" "1686" "0" "1686" "0" "c.1686A>G" "r.(?)" "p.(Glu562=)" "" "0000719097" "00022692" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "" "0000719098" "00022692" "50" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Ser)" "" "0000800865" "00022692" "50" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Ser)" "" "0000800866" "00022692" "50" "3226" "0" "3226" "0" "c.3226G>A" "r.(?)" "p.(Val1076Met)" "" "0000800867" "00022692" "30" "3471" "0" "3471" "0" "c.3471G>A" "r.(?)" "p.(Ala1157=)" "" "0000800868" "00022692" "30" "3877" "0" "3877" "0" "c.3877A>T" "r.(?)" "p.(Thr1293Ser)" "" "0000850074" "00022692" "30" "2437" "0" "2437" "0" "c.2437A>G" "r.(?)" "p.(Ile813Val)" "" "0000885448" "00022692" "30" "2225" "0" "2225" "0" "c.2225C>T" "r.(?)" "p.(Thr742Ile)" "" "0000962357" "00022692" "50" "542" "5" "542" "5" "c.542+5G>A" "r.spl?" "p.?" "" "0000993099" "00022692" "50" "552" "0" "552" "0" "c.552A>T" "r.(?)" "p.(Gln184His)" "" "0000993100" "00022692" "50" "1914" "0" "1914" "0" "c.1914T>G" "r.(?)" "p.(Asp638Glu)" "" "0000993101" "00022692" "50" "3226" "0" "3226" "0" "c.3226G>C" "r.(?)" "p.(Val1076Leu)" "" "0000993102" "00022692" "30" "3247" "0" "3247" "0" "c.3247C>T" "r.(?)" "p.(Pro1083Ser)" "" "0001024692" "00022692" "50" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Gly1071Arg)" "" "0001045862" "00022692" "50" "59" "0" "59" "0" "c.59G>T" "r.(?)" "p.(Gly20Val)" "" "0001045863" "00022692" "50" "391" "0" "391" "0" "c.391C>T" "r.(?)" "p.(Arg131Trp)" "" "0001050736" "00022692" "50" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Gly1048Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0