### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAMTS19) # 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}}" "ADAMTS19" "ADAM metallopeptidase with thrombospondin type 1 motif, 19" "5" "q23.3" "unknown" "NC_000005.9" "UD_132610467429" "" "https://www.LOVD.nl/ADAMTS19" "" "1" "17111" "171019" "607513" "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/ADAMTS19_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-21 09:43:14" "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}}" "00002106" "ADAMTS19" "ADAM metallopeptidase with thrombospondin type 1 motif, 19" "001" "NM_133638.3" "" "NP_598377.3" "" "" "" "1" "5089" "3624" "128796103" "129074376" "" "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" "02012" "PCKDC" "deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)" "AR" "261680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-13 10:38:21" "05645" "AAT11" "aneurysm, aortic, thoracic, familial, type 11 (AAT11)" "AD" "617349" "" "" "autosomal dominant" "00006" "2019-08-09 10:50:32" "00006" "2025-11-10 16:34:30" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00299708" "" "" "" "1" "" "03448" "In press Clin Genet 2020" "" "F" "yes" "Saudi Arabia" "07y" "0" "" "" "" "1370131" "00299709" "" "" "" "1" "" "03448" "In Press Clin Genet 2020" "" "F" "" "Saudi Arabia" "09y" "0" "" "" "" "1343068" "00299710" "" "" "" "1" "" "03448" "In Press Clin Genet 2020" "" "F" "" "Morocco" "11y" "0" "" "" "" "1436928" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00299708" "02012" "00299709" "00198" "00299710" "05645" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02012, 05645 ## Count = 4 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000227020" "02012" "00299708" "03448" "Familial, autosomal recessive" "" "Severe LVOT obstruction\r\nLV hypertrophy. Recurrent sub-aortic membrane. Congenital heart valve disease." "" "00y10m" "congenital" "" "" "" "" "" "Congenital heart valve disease." "Congenital heart disease" "" "0000227022" "05645" "00299710" "03448" "Familial, autosomal recessive" "11y" "Severe sub-aortic valve stenosis, severe pulmonary valve stenosis. PFO." "0" "11y" "congenital" "" "" "" "" "" "Congenital heart valve disease" "Congenital heart disease" "" "0000227091" "00198" "00299709" "03448" "Familial, autosomal recessive" "09y" "scaphocephaly, short, upslanted palpebral fissures, hypertelorism, mild neurodevelopmental delay, pulmonary valve stenosis, small ASD, PDA" "00y00m01d" "09y" "congenital heart disease" "" "" "" "" "" "" "congenital heart disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000300819" "00299708" "1" "03448" "03448" "2020-04-20 15:13:04" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000300820" "00299709" "1" "03448" "03448" "2020-04-20 15:21:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000300821" "00299710" "1" "03448" "03448" "2020-04-20 15:36:09" "" "" "SEQ-NG-I" "DNA" "blood" "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 = 23 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000663719" "3" "70" "5" "128984509" "128984509" "subst" "0" "03448" "ADAMTS19_000002" "g.128984509G>T" "" "In press Clin Genet 2020" "" "" "" "Germline" "yes" "" "0" "" "" "g.129648816G>T" "" "likely pathogenic (recessive)" "" "0000663720" "3" "70" "5" "129072807" "129072807" "subst" "1.63694E-5" "03448" "ADAMTS19_000001" "g.129072807C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.129737114C>T" "" "likely pathogenic (recessive)" "" "0000663721" "0" "70" "5" "128983542" "128983542" "subst" "4.06085E-6" "03448" "ADAMTS19_000003" "g.128983542C>T" "" "In press Clin Genet 2020" "" "" "" "Germline" "yes" "" "0" "" "" "g.129647849C>T" "" "likely pathogenic (recessive)" "" "0000689420" "0" "30" "5" "128797042" "128797042" "subst" "0" "01943" "ADAMTS19_000004" "g.128797042G>A" "" "" "" "ADAMTS19(NM_133638.4):c.339G>A (p.P113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689421" "0" "50" "5" "129072901" "129072901" "subst" "5.41757E-5" "01943" "ADAMTS19_000005" "g.129072901A>G" "" "" "" "ADAMTS19(NM_133638.4):c.3632A>G (p.Q1211R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720155" "0" "50" "5" "128984594" "128984594" "subst" "0" "02325" "ADAMTS19_000006" "g.128984594T>C" "" "" "" "ADAMTS19(NM_133638.6):c.2107T>C (p.C703R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720156" "0" "50" "5" "129037233" "129037233" "subst" "2.43801E-5" "02325" "ADAMTS19_000007" "g.129037233G>A" "" "" "" "ADAMTS19(NM_133638.6):c.3107G>A (p.R1036H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801868" "0" "50" "5" "128796815" "128796815" "subst" "0.00112136" "01943" "ADAMTS19_000008" "g.128796815C>G" "" "" "" "ADAMTS19(NM_133638.4):c.112C>G (p.R38G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801869" "0" "50" "5" "128796881" "128796881" "subst" "0.000737463" "01943" "ADAMTS19_000009" "g.128796881A>C" "" "" "" "ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801870" "0" "50" "5" "128844923" "128844923" "subst" "4.10765E-6" "01943" "ADAMTS19_000010" "g.128844923G>C" "" "" "" "ADAMTS19(NM_133638.4):c.901G>C (p.G301R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801871" "0" "50" "5" "129015540" "129015540" "subst" "9.75079E-5" "01943" "ADAMTS19_000011" "g.129015540G>A" "" "" "" "ADAMTS19(NM_133638.4):c.2590G>A (p.V864I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801872" "0" "50" "5" "129037113" "129037113" "subst" "0.000170561" "01943" "ADAMTS19_000012" "g.129037113G>T" "" "" "" "ADAMTS19(NM_133638.4):c.2987G>T (p.R996L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859741" "0" "50" "5" "128863489" "128863489" "subst" "2.06894E-5" "01943" "ADAMTS19_000013" "g.128863489C>T" "" "" "" "ADAMTS19(NM_133638.4):c.1135C>T (p.R379C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859742" "0" "30" "5" "128977664" "128977664" "dup" "0" "01943" "ADAMTS19_000014" "g.128977664dup" "" "" "" "ADAMTS19(NM_133638.4):c.1872+11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859743" "0" "50" "5" "128983484" "128983484" "subst" "0.000373686" "01943" "ADAMTS19_000015" "g.128983484C>A" "" "" "" "ADAMTS19(NM_133638.4):c.1899C>A (p.S633R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886585" "0" "30" "5" "128797159" "128797159" "subst" "3.04572E-5" "01943" "ADAMTS19_000016" "g.128797159G>T" "" "" "" "ADAMTS19(NM_133638.4):c.456G>T (p.P152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886586" "0" "50" "5" "129039960" "129039960" "subst" "6.10069E-5" "02325" "ADAMTS19_000017" "g.129039960G>A" "" "" "" "ADAMTS19(NM_133638.6):c.3188G>A (p.R1063H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929007" "0" "50" "5" "128864302" "128864302" "subst" "0" "02325" "ADAMTS19_000018" "g.128864302A>G" "" "" "" "ADAMTS19(NM_133638.6):c.1260A>G (p.I420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963426" "0" "30" "5" "128887557" "128887557" "subst" "4.66705E-6" "02325" "ADAMTS19_000019" "g.128887557G>A" "" "" "" "ADAMTS19(NM_133638.6):c.1329G>A (p.R443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025027" "0" "30" "5" "128844919" "128844919" "subst" "4.09266E-6" "02329" "ADAMTS19_000020" "g.128844919C>T" "" "" "" "ADAMTS19(NM_133638.6):c.897C>T (p.Y299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034884" "0" "50" "5" "128796881" "128796881" "subst" "0.000737463" "01804" "ADAMTS19_000009" "g.128796881A>C" "" "" "" "ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034885" "0" "30" "5" "128796881" "128796881" "subst" "0.000737463" "02326" "ADAMTS19_000009" "g.128796881A>C" "" "" "" "ADAMTS19(NM_133638.4):c.178A>C (p.S60R), ADAMTS19(NM_133638.5):c.178A>C (p.S60R), ADAMTS19(NM_133638.6):c.178A>C (p.(Ser60Arg))" "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 ADAMTS19 ## Count = 23 "{{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}}" "0000079500" "00002106" "00" "-4967579" "0" "8388607" "0" "c.-4967579_*16644374dup" "" "" "" "0000663719" "00002106" "70" "2004" "0" "2004" "0" "c.2004G>T" "r.(?)" "p.(Arg668Ser)" "" "0000663720" "00002106" "70" "3520" "0" "3520" "0" "c.3520C>T" "r.(?)" "p.(Arg1174*)" "" "0000663721" "00002106" "70" "1939" "0" "1939" "0" "c.1939C>T" "r.(?)" "p.(Arg647*)" "" "0000689420" "00002106" "30" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(Pro107=)" "" "0000689421" "00002106" "50" "3614" "0" "3614" "0" "c.3614A>G" "r.(?)" "p.(Gln1205Arg)" "" "0000720155" "00002106" "50" "2089" "0" "2089" "0" "c.2089T>C" "r.(?)" "p.(Cys697Arg)" "" "0000720156" "00002106" "50" "3089" "0" "3089" "0" "c.3089G>A" "r.(?)" "p.(Arg1030His)" "" "0000801868" "00002106" "50" "94" "0" "94" "0" "c.94C>G" "r.(?)" "p.(Arg32Gly)" "" "0000801869" "00002106" "50" "160" "0" "160" "0" "c.160A>C" "r.(?)" "p.(Ser54Arg)" "" "0000801870" "00002106" "50" "883" "0" "883" "0" "c.883G>C" "r.(?)" "p.(Gly295Arg)" "" "0000801871" "00002106" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Val858Ile)" "" "0000801872" "00002106" "50" "2969" "0" "2969" "0" "c.2969G>T" "r.(?)" "p.(Arg990Leu)" "" "0000859741" "00002106" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000859742" "00002106" "30" "1854" "11" "1854" "11" "c.1854+11dup" "r.(=)" "p.(=)" "" "0000859743" "00002106" "50" "1881" "0" "1881" "0" "c.1881C>A" "r.(?)" "p.(Ser627Arg)" "" "0000886585" "00002106" "30" "438" "0" "438" "0" "c.438G>T" "r.(?)" "p.(Pro146=)" "" "0000886586" "00002106" "50" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Arg1057His)" "" "0000929007" "00002106" "50" "1242" "0" "1242" "0" "c.1242A>G" "r.(?)" "p.(Ile414Met)" "" "0000963426" "00002106" "30" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(=)" "" "0001025027" "00002106" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(=)" "" "0001034884" "00002106" "50" "160" "0" "160" "0" "c.160A>C" "r.(?)" "p.(Ser54Arg)" "" "0001034885" "00002106" "30" "160" "0" "160" "0" "c.160A>C" "r.(?)" "p.(Ser54Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000300819" "0000663719" "0000300820" "0000663720" "0000300821" "0000663721"