### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VWA8) # 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}}" "VWA8" "von Willebrand factor A domain containing 8" "13" "q14.11" "unknown" "NC_000013.10" "UD_145628685137" "" "https://www.LOVD.nl/VWA8" "" "1" "29071" "23078" "617509" "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/VWA8_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-09 00:00:00" "00006" "2023-10-23 22:21:50" "00006" "2025-12-05 13:23:08" ## 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}}" "00025189" "VWA8" "transcript variant 1" "001" "NM_015058.1" "" "NP_055873.1" "" "" "" "-70" "7090" "5718" "42535221" "42140961" "00000" "2017-08-09 14:09:21" "" "" ## 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}}" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00440595" "" "" "" "11" "" "00006" "{PMID:Kong 2023:37012052}" "4-generation family, 11 affected (5F, 6M)" "F" "" "China" "" "0" "" "" "" "FamPatI2" "00440596" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatII1" "00440597" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatII5" "00440598" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatII7" "00440599" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatII10" "00440600" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII1" "00440601" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatIII5" "00440602" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII7" "00440603" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "M" "" "China" "" "0" "" "" "" "FamPatIII9" "00440604" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatIV2" "00440605" "" "" "00440595" "1" "" "00006" "{PMID:Kong 2023:37012052}" "relative" "F" "" "China" "" "0" "" "" "" "FamPatIV3" "00470683" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected mother" "F" "" "Poland" "" "0" "" "" "" "Pat44" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00440595" "04214" "00440596" "04214" "00440597" "04214" "00440598" "04214" "00440599" "04214" "00440600" "04214" "00440601" "04214" "00440602" "04214" "00440603" "04214" "00440604" "04214" "00440605" "04214" "00470683" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04214, 07210 ## Count = 12 "{{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}}" "0000330507" "04214" "00440595" "00006" "Familial, autosomal dominant" ">60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; senile cataract; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330508" "04214" "00440596" "00006" "Familial, autosomal dominant" ">60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; atrophy of iris (depigmentation); best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330509" "04214" "00440597" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; posterior cystic cataract; best-corrected visual acuity OD 20/200, best-corrected visual acuity OS 20/200;" "<9y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330510" "04214" "00440598" "00006" "Familial, autosomal dominant" ">60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; anterior cystic cataract; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal; blood fat" "<9y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330511" "04214" "00440599" "00006" "Familial, autosomal dominant" ">60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; secondary cataract; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal; blood fat" "<10y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330512" "04214" "00440600" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; right eye intraocular lens; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "<8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330513" "04214" "00440601" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal; blood fat" "<7y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330514" "04214" "00440602" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; thinning retinal arterioles, bone spicule-type pigment deposits peripheral retina, extensive retinal atrophy central area macula; best-corrected visual acuity OD 20/200, best-corrected visual acuity OS 20/200; blood fat" "12y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330515" "04214" "00440603" "00006" "Familial, autosomal dominant" "18y-60y" "initial night blindness, visual field defects, later reduced visual acuity; retinitis pigmentosa; macular dystrophy/macular degeneration; best-corrected visual acuity OD severly abnormal, best-corrected visual acuity OS severly abnormal;" "<7y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330516" "04214" "00440604" "00006" "Familial, autosomal dominant" "02y-12y" "night blindness, visual field defects; retinitis pigmentosa; macular dystrophy/macular degeneration; amblyopia; blood fat" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000330517" "04214" "00440605" "00006" "Familial, autosomal dominant" "02y-12y" "night blindness, visual field defects; retinitis pigmentosa; macular dystrophy/macular degeneration; amblyopia, astigmatism; best-corrected visual acuity OD 20/50, best-corrected visual acuity OS 20/50;" "3y" "" "" "" "" "" "" "" "retinitis pigmentosa" "0000355577" "07210" "00470683" "00006" "Familial" "14y" "see paper; ... scoliosis, no other skeletal defects; back pain; cleft lip; physical activity" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000442080" "00440595" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442081" "00440596" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442082" "00440597" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442083" "00440598" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442084" "00440599" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442085" "00440600" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442086" "00440601" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442087" "00440602" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442088" "00440603" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442089" "00440604" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442090" "00440605" "1" "00006" "00006" "2023-11-04 21:20:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472350" "00470683" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 30 "{{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}}" "0000323391" "0" "50" "13" "42295506" "42295506" "subst" "0.00130601" "01804" "VWA8_000001" "g.42295506C>G" "" "" "" "VWA8(NM_001009814.1):c.2964G>C (p.(Gln988His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41721370C>G" "" "VUS" "" "0000323392" "0" "50" "13" "42295559" "42295559" "subst" "0.00160572" "01804" "VWA8_000002" "g.42295559T>G" "" "" "" "VWA8(NM_001009814.1):c.2911A>C (p.(Ile971Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41721423T>G" "" "VUS" "" "0000323393" "0" "50" "13" "42295610" "42295610" "del" "0" "01804" "VWA8_000003" "g.42295610del" "" "" "" "VWA8(NM_001009814.1):c.2861del (p.(Lys954SerfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41721474del" "" "VUS" "" "0000323394" "0" "50" "13" "42407528" "42407528" "subst" "0" "01804" "VWA8_000004" "g.42407528C>T" "" "" "" "VWA8(NM_001009814.1):c.1565G>A (p.(Gly522Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41833392C>T" "" "VUS" "" "0000940045" "0" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940046" "21" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940047" "21" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940048" "21" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940049" "21" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940050" "11" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940051" "11" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940052" "11" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940053" "11" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940054" "21" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940055" "11" "90" "13" "42245135" "42245135" "subst" "1.21875E-5" "00006" "VWA8_000005" "g.42245135G>A" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41670999G>A" "" "pathogenic (dominant)" "" "0000940056" "0" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940057" "21" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940058" "21" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940059" "21" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940060" "21" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940061" "11" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940062" "11" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940063" "11" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940064" "11" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940065" "21" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000940066" "11" "50" "13" "42293773" "42293773" "subst" "2.85077E-5" "00006" "VWA8_000006" "g.42293773C>T" "" "{PMID:Kong 2023:37012052}" "" "3070G>A;4558C>T" "" "Germline" "" "" "0" "" "" "g.41719637C>T" "" "VUS" "" "0000980696" "0" "30" "13" "42189142" "42189142" "subst" "0.00458108" "01804" "VWA8_000007" "g.42189142C>T" "" "" "" "VWA8(NM_015058.2):c.4690G>A (p.(Val1564Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980697" "0" "30" "13" "42442519" "42442519" "subst" "0.000186826" "01804" "VWA8_000008" "g.42442519A>G" "" "" "" "VWA8(NM_015058.2):c.1175T>C (p.(Val392Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000599" "0" "50" "13" "42293738" "42293738" "subst" "1.62978E-5" "01804" "VWA8_000009" "g.42293738C>G" "" "" "" "VWA8(NM_015058.1):c.3105G>C (p.(Gln1035His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060808" "0" "70" "13" "42461387" "42461387" "dup" "0" "00006" "VWA8_000010" "g.42461387dup" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.41887251dup" "" "likely pathogenic" "ACMG" ## 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 VWA8 ## Count = 30 "{{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}}" "0000323391" "00025189" "50" "2964" "0" "2964" "0" "c.2964G>C" "r.(?)" "p.(Gln988His)" "" "0000323392" "00025189" "50" "2911" "0" "2911" "0" "c.2911A>C" "r.(?)" "p.(Ile971Leu)" "" "0000323393" "00025189" "50" "2861" "0" "2861" "0" "c.2861del" "r.(?)" "p.(Lys954SerfsTer9)" "" "0000323394" "00025189" "50" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Asp)" "" "0000940045" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940046" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940047" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940048" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940049" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940050" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940051" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940052" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.4558c>u" "p.Arg1520Ter" "" "0000940053" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940054" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940055" "00025189" "90" "4558" "0" "4558" "0" "c.4558C>T" "r.(?)" "p.(Arg1520Ter)" "" "0000940056" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940057" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940058" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940059" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940060" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940061" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940062" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940063" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.3070g>a" "p.Gly1024Arg" "" "0000940064" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940065" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000940066" "00025189" "50" "3070" "0" "3070" "0" "c.3070G>A" "r.(?)" "p.(Gly1024Arg)" "" "0000980696" "00025189" "30" "4690" "0" "4690" "0" "c.4690G>A" "r.(?)" "p.(Val1564Met)" "" "0000980697" "00025189" "30" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Val392Ala)" "" "0001000599" "00025189" "50" "3105" "0" "3105" "0" "c.3105G>C" "r.(?)" "p.(Gln1035His)" "" "0001060808" "00025189" "70" "767" "0" "767" "0" "c.767dup" "r.(?)" "p.(Leu257SerfsTer20)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000442080" "0000940045" "0000442080" "0000940056" "0000442081" "0000940046" "0000442081" "0000940057" "0000442082" "0000940047" "0000442082" "0000940058" "0000442083" "0000940048" "0000442083" "0000940059" "0000442084" "0000940049" "0000442084" "0000940060" "0000442085" "0000940050" "0000442085" "0000940061" "0000442086" "0000940051" "0000442086" "0000940062" "0000442087" "0000940052" "0000442087" "0000940063" "0000442088" "0000940053" "0000442088" "0000940064" "0000442089" "0000940054" "0000442089" "0000940065" "0000442090" "0000940055" "0000442090" "0000940066" "0000472350" "0001060808"