### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAMTS9) # 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}}" "ADAMTS9" "ADAM metallopeptidase with thrombospondin type 1 motif, 9" "3" "p14.1" "unknown" "NC_000003.11" "UD_132465197830" "" "https://www.LOVD.nl/ADAMTS9" "" "1" "13202" "56999" "605421" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-12 11:20:33" "00000" "2025-07-08 13:22:38" ## 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}}" "00002097" "ADAMTS9" "ADAM metallopeptidase with thrombospondin type 1 motif, 9" "001" "NM_182920.1" "" "NP_891550.1" "" "" "" "-32" "7281" "5808" "64673365" "64501330" "" "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}}" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04189" "NPHPRC" "nephronophthisis-related ciliopathy (NPHP-RC)" "" "" "" "" "" "00006" "2015-02-14 16:29:28" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00104018" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-529A" "00213208" "" "" "" "1" "" "00006" "{PMID:Choi 2019:30609407}" "2-generation family, affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "European" "30609407-F1279-21" "00213209" "" "" "" "1" "" "00006" "{PMID:Choi 2019:30609407}" "2-generation family, affected, unaffected heterozygous carrier parents" "" "yes" "" "" "0" "" "" "Arab" "30609407-FamA5048-21" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00104018" "03381" "00213208" "04189" "00213209" "04189" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03381, 04189 ## Count = 3 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081952" "03381" "00104018" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000161683" "04189" "00213208" "00006" "Familial, autosomal recessive" "" "increased echogenicity, medullary cysts, proteinuria, cortical deafness, atrial septal defect, growth retardation, short stature, coloboma, aplasia of vermis, corpus callosum hypoplasia; 5y-end-stage renal disease" "" "" "" "" "" "" "" "" "nephronophthisis" "" "0000161684" "04189" "00213209" "00006" "Familial, autosomal recessive" "" "NPHP, nonselective proteinuria, end-stage renal disease since infancy, sensorineural deafness, hepatosplenomegaly, short stature, anemia, thrombocytopenia, osteopenia, rickets; 2y-renal biopsy microcystic dilatation of tubules, immature glomeruli" "" "" "" "" "" "" "" "" "nephronophthisis" "" ## 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}}" "0000104489" "00104018" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000214278" "00213208" "1" "00006" "00006" "2019-01-12 11:31:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000214279" "00213209" "1" "00006" "00006" "2019-01-12 11:36:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000214278" "ADAMTS9" "0000214279" "ADAMTS9" ## 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 = 50 "{{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}}" "0000169230" "0" "70" "3" "64536723" "64536723" "subst" "8.13173E-6" "00587" "ADAMTS9_000001" "g.64536723C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_182920.1(ADAMTS9):c.4714G>A p.(Gly1572Ser)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.64551047C>T" "" "likely pathogenic" "" "0000446224" "3" "90" "3" "64547377" "64547378" "del" "0" "00006" "ADAMTS9_000002" "g.64547377_64547378del" "" "{PMID:Choi 2019:30609407}" "" "" "" "Germline" "" "" "0" "" "" "g.64561701_64561702del" "" "pathogenic (recessive)" "" "0000446225" "3" "90" "3" "64672566" "64672566" "subst" "0.000239584" "00006" "ADAMTS9_000003" "g.64672566G>C" "" "{PMID:Choi 2019:30609407}" "" "" "" "Germline" "" "" "0" "" "" "g.64686890G>C" "" "pathogenic (recessive)" "" "0000520586" "0" "50" "3" "64589770" "64589776" "del" "0" "01804" "ADAMTS9_000004" "g.64589770_64589776del" "" "" "" "ADAMTS9(NM_182920.1):c.3580-8_3580-2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64604094_64604100del" "" "VUS" "" "0000520587" "0" "50" "3" "64619415" "64619415" "subst" "0" "01804" "ADAMTS9_000005" "g.64619415C>G" "" "" "" "ADAMTS9(NM_182920.1):c.1997G>C (p.(Gly666Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64633739C>G" "" "VUS" "" "0000689142" "0" "30" "3" "64644301" "64644301" "subst" "0.000658167" "01943" "ADAMTS9_000006" "g.64644301G>A" "" "" "" "ADAMTS9(NM_182920.2):c.846C>T (p.H282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719599" "0" "30" "3" "64527587" "64527587" "subst" "4.06237E-6" "01943" "ADAMTS9_000007" "g.64527587C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5124G>A (p.E1708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719600" "0" "50" "3" "64672566" "64672566" "subst" "0.000239584" "01943" "ADAMTS9_000003" "g.64672566G>C" "" "" "" "ADAMTS9(NM_182920.2):c.194C>G (p.T65R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801365" "0" "30" "3" "64592622" "64592622" "subst" "0.00300164" "02326" "ADAMTS9_000008" "g.64592622C>T" "" "" "" "ADAMTS9(NM_182920.2):c.3474+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801366" "0" "30" "3" "64635470" "64635470" "subst" "0.0032009" "02326" "ADAMTS9_000009" "g.64635470G>A" "" "" "" "ADAMTS9(NM_182920.2):c.1464-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850404" "0" "10" "3" "64536649" "64536649" "subst" "0.0025185" "02326" "ADAMTS9_000010" "g.64536649G>A" "" "" "" "ADAMTS9(NM_182920.2):c.4788C>T (p.D1596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850405" "0" "30" "3" "64579930" "64579930" "subst" "0.0025877" "02326" "ADAMTS9_000011" "g.64579930G>A" "" "" "" "ADAMTS9(NM_182920.2):c.4356+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850406" "0" "30" "3" "64582605" "64582605" "subst" "0" "01943" "ADAMTS9_000012" "g.64582605T>C" "" "" "" "ADAMTS9(NM_182920.2):c.4080A>G (p.G1360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850407" "0" "30" "3" "64590032" "64590032" "del" "0" "02326" "ADAMTS9_000013" "g.64590032del" "" "" "" "ADAMTS9(NM_182920.2):c.3475-17delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850408" "0" "10" "3" "64627587" "64627587" "subst" "0.00161259" "02326" "ADAMTS9_000015" "g.64627587C>A" "" "" "" "ADAMTS9(NM_182920.2):c.1793G>T (p.G598V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850409" "0" "30" "3" "64633691" "64633691" "subst" "0.00106438" "02326" "ADAMTS9_000016" "g.64633691G>A" "" "" "" "ADAMTS9(NM_182920.2):c.1635C>T (p.N545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850410" "0" "30" "3" "64644328" "64644328" "subst" "0.00244519" "02326" "ADAMTS9_000018" "g.64644328C>T" "" "" "" "ADAMTS9(NM_182920.2):c.819G>A (p.T273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859124" "0" "30" "3" "64599013" "64599013" "subst" "0.00360572" "02326" "ADAMTS9_000014" "g.64599013C>A" "" "" "" "ADAMTS9(NM_182920.2):c.3354+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859125" "0" "30" "3" "64640303" "64640303" "subst" "0.000363141" "02326" "ADAMTS9_000017" "g.64640303G>T" "" "" "" "ADAMTS9(NM_182920.2):c.1170-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885969" "0" "30" "3" "64507921" "64507921" "subst" "0.00197868" "02326" "ADAMTS9_000019" "g.64507921C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5734G>A (p.(Val1912Ile), p.V1912I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885970" "0" "30" "3" "64526862" "64526862" "subst" "0.000564811" "02326" "ADAMTS9_000020" "g.64526862G>T" "" "" "" "ADAMTS9(NM_182920.2):c.5430C>A (p.R1810=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885971" "0" "30" "3" "64526863" "64526863" "subst" "0.000613552" "02326" "ADAMTS9_000021" "g.64526863C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5429G>A (p.(Arg1810His), p.R1810H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885972" "0" "30" "3" "64587656" "64587656" "subst" "6.96168E-5" "02326" "ADAMTS9_000022" "g.64587656G>A" "" "" "" "ADAMTS9(NM_182920.2):c.3981C>T (p.L1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885973" "0" "30" "3" "64666931" "64666931" "subst" "0.00249945" "02326" "ADAMTS9_000023" "g.64666931G>A" "" "" "" "ADAMTS9(NM_182920.2):c.625C>T (p.R209C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911993" "0" "30" "3" "64644301" "64644301" "subst" "0.000658167" "02326" "ADAMTS9_000006" "g.64644301G>A" "" "" "" "ADAMTS9(NM_182920.2):c.846C>T (p.H282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923989" "0" "30" "3" "64673295" "64673295" "subst" "0.00258835" "02326" "ADAMTS9_000024" "g.64673295C>A" "" "" "" "ADAMTS9(NM_182920.2):c.39G>T (p.L13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928821" "0" "30" "3" "64526823" "64526823" "subst" "0.000589177" "02326" "ADAMTS9_000025" "g.64526823C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5469G>A (p.G1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928822" "0" "30" "3" "64606840" "64606840" "subst" "0.0046097" "02326" "ADAMTS9_000026" "g.64606840C>G" "" "" "" "ADAMTS9(NM_182920.2):c.2763G>C (p.L921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948206" "0" "30" "3" "64507922" "64507922" "subst" "0" "02326" "ADAMTS9_000027" "g.64507922G>A" "" "" "" "ADAMTS9(NM_182920.2):c.5733C>T (p.V1911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948207" "0" "30" "3" "64536694" "64536694" "subst" "0.00118613" "02326" "ADAMTS9_000028" "g.64536694C>A" "" "" "" "ADAMTS9(NM_182920.2):c.4743G>T (p.V1581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948208" "0" "30" "3" "64601103" "64601103" "subst" "3.25351E-5" "02326" "ADAMTS9_000029" "g.64601103C>T" "" "" "" "ADAMTS9(NM_182920.2):c.3083G>A (p.R1028Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948209" "0" "30" "3" "64672501" "64672501" "subst" "0.0023741" "02326" "ADAMTS9_000030" "g.64672501C>A" "" "" "" "ADAMTS9(NM_182920.2):c.259G>T (p.(Ala87Ser), p.A87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948210" "0" "30" "3" "64672534" "64672534" "subst" "0.00162877" "02326" "ADAMTS9_000031" "g.64672534T>C" "" "" "" "ADAMTS9(NM_182920.2):c.226A>G (p.(Ile76Val), p.I76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975973" "0" "50" "3" "64532433" "64532433" "subst" "3.0865E-5" "01804" "ADAMTS9_000032" "g.64532433C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5064+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975974" "0" "30" "3" "64536562" "64536562" "subst" "1.22026E-5" "01804" "ADAMTS9_000033" "g.64536562C>T" "" "" "" "ADAMTS9(NM_182920.2):c.4869+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975975" "0" "50" "3" "64601793" "64601793" "subst" "0.000178884" "01804" "ADAMTS9_000034" "g.64601793C>T" "" "" "" "ADAMTS9(NM_182920.2):c.2867G>A (p.(Arg956His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975976" "0" "50" "3" "64617565" "64617565" "subst" "1.22042E-5" "01804" "ADAMTS9_000035" "g.64617565G>A" "" "" "" "ADAMTS9(NM_182920.2):c.2212C>T (p.(Arg738Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975977" "0" "50" "3" "64672444" "64672444" "subst" "1.62459E-5" "01804" "ADAMTS9_000036" "g.64672444C>G" "" "" "" "ADAMTS9(NM_182920.2):c.316G>C (p.(Gly106Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993870" "0" "50" "3" "64536639" "64536639" "subst" "3.24968E-5" "01804" "ADAMTS9_000037" "g.64536639G>A" "" "" "" "ADAMTS9(NM_182920.1):c.4798C>T (p.(Arg1600Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993871" "0" "50" "3" "64644329" "64644329" "subst" "0.000170604" "01804" "ADAMTS9_000038" "g.64644329G>A" "" "" "" "ADAMTS9(NM_182920.1):c.818C>T (p.(Thr273Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034152" "0" "30" "3" "64507921" "64507921" "subst" "0.00197868" "01804" "ADAMTS9_000019" "g.64507921C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5734G>A (p.(Val1912Ile), p.V1912I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034153" "0" "50" "3" "64526863" "64526863" "subst" "0.000613552" "01804" "ADAMTS9_000021" "g.64526863C>T" "" "" "" "ADAMTS9(NM_182920.2):c.5429G>A (p.(Arg1810His), p.R1810H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034154" "0" "50" "3" "64582508" "64582508" "subst" "0" "01804" "ADAMTS9_000039" "g.64582508C>T" "" "" "" "ADAMTS9(NM_182920.2):c.4177G>A (p.(Glu1393Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034155" "0" "10" "3" "64590014" "64590014" "subst" "0.00209523" "02326" "ADAMTS9_000040" "g.64590014G>A" "" "" "" "ADAMTS9(NM_182920.2):c.3475-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034156" "0" "50" "3" "64635449" "64635449" "subst" "0.000191852" "01804" "ADAMTS9_000041" "g.64635449C>T" "" "" "" "ADAMTS9(NM_182920.2):c.1469G>A (p.(Gly490Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034157" "0" "30" "3" "64640296" "64640296" "subst" "4.0782E-6" "01804" "ADAMTS9_000042" "g.64640296C>G" "" "" "" "ADAMTS9(NM_182920.2):c.1170-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034158" "0" "30" "3" "64672501" "64672501" "subst" "0.0023741" "01804" "ADAMTS9_000030" "g.64672501C>A" "" "" "" "ADAMTS9(NM_182920.2):c.259G>T (p.(Ala87Ser), p.A87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034159" "0" "30" "3" "64672534" "64672534" "subst" "0.00162877" "01804" "ADAMTS9_000031" "g.64672534T>C" "" "" "" "ADAMTS9(NM_182920.2):c.226A>G (p.(Ile76Val), p.I76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045934" "0" "70" "3" "64536572" "64536572" "subst" "0" "02326" "ADAMTS9_000043" "g.64536572G>C" "" "" "" "ADAMTS9(NM_182920.2):c.4865C>G (p.S1622*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001045935" "0" "70" "3" "64599074" "64599074" "subst" "0" "02326" "ADAMTS9_000044" "g.64599074G>A" "" "" "" "ADAMTS9(NM_182920.2):c.3301C>T (p.Q1101*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 ADAMTS9 ## Count = 50 "{{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}}" "0000169230" "00002097" "00" "4714" "0" "4714" "0" "c.4714G>A" "r.(?)" "p.(Gly1572Ser)" "" "0000446224" "00002097" "90" "4575" "0" "4576" "0" "c.4575_4576del" "r.(?)" "p.(Gln1525Hisfs*60)" "" "0000446225" "00002097" "90" "194" "0" "194" "0" "c.194C>G" "r.(?)" "p.(Thr65Arg)" "" "0000520586" "00002097" "50" "3580" "-8" "3580" "-2" "c.3580-8_3580-2del" "r.spl?" "p.?" "" "0000520587" "00002097" "50" "1997" "0" "1997" "0" "c.1997G>C" "r.(?)" "p.(Gly666Ala)" "" "0000689142" "00002097" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(His282=)" "" "0000719599" "00002097" "30" "5124" "0" "5124" "0" "c.5124G>A" "r.(?)" "p.(Glu1708=)" "" "0000719600" "00002097" "50" "194" "0" "194" "0" "c.194C>G" "r.(?)" "p.(Thr65Arg)" "" "0000801365" "00002097" "30" "3474" "14" "3474" "14" "c.3474+14G>A" "r.(=)" "p.(=)" "" "0000801366" "00002097" "30" "1464" "-16" "1464" "-16" "c.1464-16C>T" "r.(=)" "p.(=)" "" "0000850404" "00002097" "10" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(Asp1596=)" "" "0000850405" "00002097" "30" "4356" "4" "4356" "4" "c.4356+4C>T" "r.spl?" "p.?" "" "0000850406" "00002097" "30" "4080" "0" "4080" "0" "c.4080A>G" "r.(?)" "p.(Gly1360=)" "" "0000850407" "00002097" "30" "3475" "-17" "3475" "-17" "c.3475-17del" "r.(=)" "p.(=)" "" "0000850408" "00002097" "10" "1793" "0" "1793" "0" "c.1793G>T" "r.(?)" "p.(Gly598Val)" "" "0000850409" "00002097" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asn545=)" "" "0000850410" "00002097" "30" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Thr273=)" "" "0000859124" "00002097" "30" "3354" "8" "3354" "8" "c.3354+8G>T" "r.(=)" "p.(=)" "" "0000859125" "00002097" "30" "1170" "-15" "1170" "-15" "c.1170-15C>A" "r.(=)" "p.(=)" "" "0000885969" "00002097" "30" "5734" "0" "5734" "0" "c.5734G>A" "r.(?)" "p.(Val1912Ile)" "" "0000885970" "00002097" "30" "5430" "0" "5430" "0" "c.5430C>A" "r.(?)" "p.(Arg1810=)" "" "0000885971" "00002097" "30" "5429" "0" "5429" "0" "c.5429G>A" "r.(?)" "p.(Arg1810His)" "" "0000885972" "00002097" "30" "3981" "0" "3981" "0" "c.3981C>T" "r.(?)" "p.(Leu1327=)" "" "0000885973" "00002097" "30" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Cys)" "" "0000911993" "00002097" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(His282=)" "" "0000923989" "00002097" "30" "39" "0" "39" "0" "c.39G>T" "r.(?)" "p.(Leu13=)" "" "0000928821" "00002097" "30" "5469" "0" "5469" "0" "c.5469G>A" "r.(?)" "p.(=)" "" "0000928822" "00002097" "30" "2763" "0" "2763" "0" "c.2763G>C" "r.(?)" "p.(=)" "" "0000948206" "00002097" "30" "5733" "0" "5733" "0" "c.5733C>T" "r.(?)" "p.(=)" "" "0000948207" "00002097" "30" "4743" "0" "4743" "0" "c.4743G>T" "r.(?)" "p.(=)" "" "0000948208" "00002097" "30" "3083" "0" "3083" "0" "c.3083G>A" "r.(?)" "p.(Arg1028Gln)" "" "0000948209" "00002097" "30" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Ala87Ser)" "" "0000948210" "00002097" "30" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000975973" "00002097" "50" "5064" "1" "5064" "1" "c.5064+1G>A" "r.spl?" "p.?" "" "0000975974" "00002097" "30" "4869" "6" "4869" "6" "c.4869+6G>A" "r.(=)" "p.(=)" "" "0000975975" "00002097" "50" "2867" "0" "2867" "0" "c.2867G>A" "r.(?)" "p.(Arg956His)" "" "0000975976" "00002097" "50" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738Trp)" "" "0000975977" "00002097" "50" "316" "0" "316" "0" "c.316G>C" "r.(?)" "p.(Gly106Arg)" "" "0000993870" "00002097" "50" "4798" "0" "4798" "0" "c.4798C>T" "r.(?)" "p.(Arg1600Trp)" "" "0000993871" "00002097" "50" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Thr273Met)" "" "0001034152" "00002097" "30" "5734" "0" "5734" "0" "c.5734G>A" "r.(?)" "p.(Val1912Ile)" "" "0001034153" "00002097" "50" "5429" "0" "5429" "0" "c.5429G>A" "r.(?)" "p.(Arg1810His)" "" "0001034154" "00002097" "50" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Glu1393Lys)" "" "0001034155" "00002097" "10" "3475" "-7" "3475" "-7" "c.3475-7C>T" "r.(=)" "p.(=)" "" "0001034156" "00002097" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Gly490Asp)" "" "0001034157" "00002097" "30" "1170" "-8" "1170" "-8" "c.1170-8G>C" "r.(=)" "p.(=)" "" "0001034158" "00002097" "30" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Ala87Ser)" "" "0001034159" "00002097" "30" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0001045934" "00002097" "70" "4865" "0" "4865" "0" "c.4865C>G" "r.(?)" "p.(Ser1622*)" "" "0001045935" "00002097" "70" "3301" "0" "3301" "0" "c.3301C>T" "r.(?)" "p.(Gln1101*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000104489" "0000169230" "0000214278" "0000446224" "0000214279" "0000446225"