### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VWDE) # 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}}" "VWDE" "von Willebrand factor D and EGF domains" "7" "p21.3" "unknown" "NC_000007.13" "UD_136017603210" "" "https://www.LOVD.nl/VWDE" "" "1" "21897" "221806" "0" "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/VWDE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-23 11:24:21" "00000" "2024-04-19 20:27:30" ## 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}}" "00022702" "VWDE" "von Willebrand factor D and EGF domains" "001" "NM_001135924.1" "" "NP_001129396.1" "" "" "" "-510" "5073" "4773" "12443852" "12370509" "" "0000-00-00 00:00:00" "" "" ## 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}}" "06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00428175" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat1" "00428176" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat2" "00428177" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat3" "00428178" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat4" "00428179" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat5" "00428180" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "VWDE-Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00428175" "06989" "00428176" "06989" "00428177" "06989" "00428178" "06989" "00428179" "06989" "00428180" "06989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06989 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000319093" "06989" "00428175" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "0000319094" "06989" "00428176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "right-sided non-syndromic cleft lip and palate" "0000319095" "06989" "00428177" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip and palate" "0000319096" "06989" "00428178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip and palate" "0000319097" "06989" "00428179" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "0000319098" "06989" "00428180" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000429586" "00428175" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429587" "00428176" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429588" "00428177" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429589" "00428178" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429590" "00428179" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429591" "00428180" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" ## 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 = 11 "{{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}}" "0000331432" "0" "50" "7" "12382745" "12382745" "subst" "0" "01804" "VWDE_000001" "g.12382745A>T" "" "" "" "VWDE(NM_001135924.1):c.4138T>A (p.(Cys1380Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12343119A>T" "" "VUS" "" "0000331433" "0" "50" "7" "12382806" "12382806" "subst" "0.00193442" "01804" "VWDE_000002" "g.12382806T>C" "" "" "" "VWDE(NM_001135924.1):c.4079-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12343180T>C" "" "VUS" "" "0000909168" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000909169" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000909170" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000909171" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000909172" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000909173" "0" "70" "7" "12383820" "12417547" "del" "0" "00006" "VWDE_000003" "g.(12382805_12383820)_(12417547_12419102)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(12343179_12344194)_(12377921_12379476)del" "" "likely pathogenic" "" "0000977502" "0" "30" "7" "12395924" "12395924" "subst" "0.000509799" "01804" "VWDE_000004" "g.12395924A>G" "" "" "" "VWDE(NM_001135924.3):c.3558T>C (p.(Gly1186=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977503" "0" "50" "7" "12412604" "12412604" "subst" "0.00104776" "01804" "VWDE_000005" "g.12412604G>T" "" "" "" "VWDE(NM_001135924.3):c.1586C>A (p.(Thr529Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977504" "0" "30" "7" "12417503" "12417503" "subst" "0.00237692" "01804" "VWDE_000006" "g.12417503T>C" "" "" "" "VWDE(NM_001135924.3):c.923A>G (p.(Tyr308Cys))" "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 VWDE ## Count = 11 "{{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}}" "0000331432" "00022702" "50" "4138" "0" "4138" "0" "c.4138T>A" "r.(?)" "p.(Cys1380Ser)" "" "0000331433" "00022702" "50" "4079" "-2" "4079" "-2" "c.4079-2A>G" "r.spl?" "p.?" "" "0000909168" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000909169" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000909170" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000909171" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000909172" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000909173" "00022702" "70" "880" "-1" "4078" "1" "c.(879+1_880-1)_(4078+1_4079-1)del" "r.?" "p.?" "" "0000977502" "00022702" "30" "3558" "0" "3558" "0" "c.3558T>C" "r.(?)" "p.(=)" "" "0000977503" "00022702" "50" "1586" "0" "1586" "0" "c.1586C>A" "r.(?)" "p.(Thr529Lys)" "" "0000977504" "00022702" "30" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Tyr308Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000429586" "0000909168" "0000429587" "0000909169" "0000429588" "0000909170" "0000429589" "0000909171" "0000429590" "0000909172" "0000429591" "0000909173"