### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP13A3) # 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}}" "ATP13A3" "ATPase type 13A3" "3" "q29" "unknown" "NC_000003.11" "UD_136078834821" "" "https://www.LOVD.nl/ATP13A3" "" "1" "24113" "79572" "610232" "1" "1" "1" "1" "Change to MANE transcript NM_001367549.1\r\nEstablishment 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" "2022-08-22 09:52:53" "00000" "2024-08-28 13:16:32" ## 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}}" "00003145" "ATP13A3" "ATPase type 13A3" "001" "NM_024524.3" "" "NP_078800.3" "" "" "" "-402" "6926" "3681" "194188968" "194123403" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "05985" "hypertension" "hypertension" "AD" "" "" "" "" "00006" "2021-11-08 09:15:28" "00006" "2021-12-10 21:51:32" "06959" "PPH5" "hypertension, pulmonary, primary, type 5" "AR" "265400" "" "" "" "00006" "2022-08-22 09:54:28" "" "" "06960" "PPH" "hypertension, pulmonary, primary" "" "" "" "" "" "00006" "2022-08-22 09:54:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATP13A3" "06959" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00390046" "" "" "" "1" "" "00006" "{PMID: Gelinas 2020:33187088}" "" "M" "" "" "" "0" "" "" "" "P1" "00416020" "" "" "" "2" "" "00006" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "2 generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "04y" "0" "" "" "Slovenia" "Fam1PatII1" "00416021" "" "" "00416020" "1" "" "00006" "PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "brother" "M" "" "United Kingdom (Great Britain)" "08y" "0" "" "" "Slovenia" "Fam1PatII2" "00416022" "" "" "" "2" "" "00006" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "2 generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "United States" "00y11m" "0" "" "" "Jew-Ashkenazi" "Fam2PatII2" "00416023" "" "" "00416022" "1" "" "00006" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "sister" "F" "" "United States" "00y17m" "0" "" "" "Jew-Ashkenazi" "Fam2PatII4" "00416025" "" "" "" "1" "" "00006" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Fam3PatII3" "00416027" "" "" "" "1" "" "00006" "{PMID:Barozzi 2019:30679663}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Italy" "" "0" "" "" "" "Trio1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00390046" "05985" "00416020" "00198" "00416021" "00198" "00416022" "00198" "00416023" "00198" "00416025" "00198" "00416027" "06960" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05985, 06959, 06960 ## Count = 7 "{{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}}" "0000283586" "05985" "00390046" "00006" "Unknown" "" "9y-pulmonary arterial hypertension, secundum atrial septal defec" "" "" "" "" "" "" "" "" "" "hypertension" "" "0000307786" "00198" "00416020" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., 4y-died" "02y06m" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000307787" "00198" "00416021" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., 8y-died" "02y06m" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000307788" "00198" "00416022" "00006" "Familial, autosomal recessive" "00y11m" "see paper; ..., 11m-died" "" "" "5m" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000307789" "00198" "00416023" "00006" "Familial, autosomal recessive" "01y05m" "see paper; ..., 17m-died" "00y00m07d" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000307791" "00198" "00416025" "00006" "Familial, autosomal recessive" "" "see paper; ..." "00y22m" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" "0000307792" "06960" "00416027" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "pulmonary arterial hypertension" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000391287" "00390046" "1" "00006" "00006" "2021-11-08 13:37:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000417300" "00416020" "1" "00006" "00006" "2022-08-22 10:02:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417301" "00416021" "1" "00006" "00006" "2022-08-22 10:07:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417302" "00416022" "1" "00006" "00006" "2022-08-22 10:11:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000417303" "00416023" "1" "00006" "00006" "2022-08-22 10:18:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000417304" "00416025" "1" "00006" "00006" "2022-08-22 10:22:24" "" "" "SEQ-NG" "DNA" "" "" "0000417307" "00416027" "1" "00006" "00006" "2022-08-22 11:11:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio 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 = 15 "{{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}}" "0000719315" "0" "50" "3" "194126697" "194126697" "subst" "0.000182749" "02325" "ATP13A3_000003" "g.194126697T>C" "" "" "" "ATP13A3(NM_024524.4):c.3632A>G (p.K1211R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821024" "0" "90" "3" "194169188" "194169188" "subst" "0" "00006" "ATP13A3_000004" "g.194169188G>T" "" "{PMID:Gelinas 2020:33187088}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876933" "3" "70" "3" "194151733" "194151733" "subst" "0" "00006" "ATP13A3_000005" "g.194151733C>T" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "" "" "Germline" "yes" "rs1489314131" "0" "" "" "g.194431004C>T" "" "likely pathogenic (recessive)" "ACMG" "0000876934" "3" "70" "3" "194151733" "194151733" "subst" "0" "00006" "ATP13A3_000005" "g.194151733C>T" "" "PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.194431004C>T" "" "likely pathogenic (recessive)" "ACMG" "0000876935" "11" "90" "3" "194151747" "194151747" "dup" "0" "00006" "ATP13A3_000006" "g.194151747dup" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "2549dupT" "" "Germline" "yes" "rs1560082927" "0" "" "" "g.194431018dup" "" "pathogenic (recessive)" "ACMG" "0000876936" "21" "70" "3" "194154519" "194154519" "subst" "0" "00006" "ATP13A3_000007" "g.194154519G>A" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.194433790G>A" "" "likely pathogenic (recessive)" "ACMG" "0000876937" "11" "90" "3" "194151747" "194151747" "dup" "0" "00006" "ATP13A3_000006" "g.194151747dup" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "2549dupT" "" "Germline" "yes" "rs1560082927" "0" "" "" "g.194431018dup" "" "pathogenic (recessive)" "ACMG" "0000876938" "21" "70" "3" "194154519" "194154519" "subst" "0" "00006" "ATP13A3_000007" "g.194154519G>A" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "" "" "Germline" "yes" "" "0" "" "" "g.194433790G>A" "" "likely pathogenic (recessive)" "ACMG" "0000876939" "21" "90" "3" "194126734" "194126734" "subst" "0" "00006" "ATP13A3_000008" "g.194126734C>A" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "NM_001367549.1:c.3685G>T" "" "Germline" "" "rs200914446" "0" "" "" "g.194406005C>A" "" "pathogenic (recessive)" "" "0000876941" "11" "90" "3" "194147857" "194147857" "dup" "0" "00006" "ATP13A3_000009" "g.194147857dup" "" "{PMID:Machado 2022:34493544}, {DOI:Machado 2022:10.1136/jmedgenet-2021-107831}" "" "3079dupT" "" "Germline" "" "rs746602775" "0" "" "" "g.194427128dup" "" "pathogenic (recessive)" "" "0000876942" "3" "70" "3" "194151733" "194151733" "subst" "0" "00006" "ATP13A3_000005" "g.194151733C>T" "" "{PMID:Barozzi 2019:30679663}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000962586" "0" "10" "3" "194159715" "194159715" "del" "0" "02329" "ATP13A3_000010" "g.194159715del" "" "" "" "ATP13A3(NM_024524.4):c.1711-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962587" "0" "10" "3" "194159715" "194159715" "dup" "0" "02329" "ATP13A3_000011" "g.194159715dup" "" "" "" "ATP13A3(NM_024524.4):c.1711-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962588" "0" "30" "3" "194168750" "194168750" "dup" "0" "02325" "ATP13A3_000012" "g.194168750dup" "" "" "" "ATP13A3(NM_024524.4):c.1151-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993514" "0" "50" "3" "194126650" "194126650" "subst" "4.06134E-6" "01804" "ATP13A3_000013" "g.194126650A>G" "" "" "" "ATP13A3(NM_024524.3):c.3679T>C (p.(Ter1227Glnext*?))" "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 ATP13A3 ## Count = 15 "{{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}}" "0000719315" "00003145" "50" "3632" "0" "3632" "0" "c.3632A>G" "r.(?)" "p.(Lys1211Arg)" "" "0000821024" "00003145" "90" "1148" "0" "1148" "0" "c.1148C>A" "r.spl?" "p.(Thr383Lys)" "" "0000876933" "00003145" "70" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Val855Met)" "" "0000876934" "00003145" "70" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Val855Met)" "" "0000876935" "00003145" "90" "2549" "0" "2549" "0" "c.2549dup" "r.(?)" "p.(Met850Ilefs*13)" "" "0000876936" "00003145" "70" "2227" "0" "2227" "0" "c.2227C>T" "r.(?)" "p.(Arg743Cys)" "" "0000876937" "00003145" "90" "2549" "0" "2549" "0" "c.2549dup" "r.(?)" "p.(Met850Ilefs*13)" "" "0000876938" "00003145" "70" "2227" "0" "2227" "0" "c.2227C>T" "r.(?)" "p.(Arg743Cys)" "" "0000876939" "00003145" "90" "3595" "0" "3595" "0" "c.3595G>T" "r.(?)" "p.(Glu1199*)" "" "0000876941" "00003145" "90" "3079" "0" "3079" "0" "c.3079dup" "r.(?)" "p.(Trp1027Leufs*9)" "" "0000876942" "00003145" "70" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Val855Met)" "" "0000962586" "00003145" "10" "1711" "-5" "1711" "-5" "c.1711-5del" "r.spl?" "p.?" "" "0000962587" "00003145" "10" "1711" "-5" "1711" "-5" "c.1711-5dup" "r.spl?" "p.?" "" "0000962588" "00003145" "30" "1151" "-6" "1151" "-6" "c.1151-6dup" "r.(=)" "p.(=)" "" "0000993514" "00003145" "50" "3679" "0" "3679" "0" "c.3679T>C" "r.(?)" "p.(*1227Glnext*2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000391287" "0000821024" "0000417300" "0000876933" "0000417301" "0000876934" "0000417302" "0000876935" "0000417302" "0000876936" "0000417303" "0000876937" "0000417303" "0000876938" "0000417304" "0000876939" "0000417304" "0000876941" "0000417307" "0000876942"