### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP6AP2) # 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}}" "ATP6AP2" "ATPase, H+ transporting, lysosomal accessory protein 2" "X" "p11.4" "unknown" "NG_008874.1" "UD_132118412617" "" "https://www.LOVD.nl/ATP6AP2" "" "1" "18305" "10159" "300556" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ATP6AP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-11-08 20:59:36" "00000" "2024-10-29 21:08:56" ## 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}}" "00001104" "ATP6AP2" "ATPase, H+ transporting, lysosomal accessory protein 2" "001" "NM_005765.2" "" "NP_005756.2" "" "" "" "-102" "1935" "1053" "40440216" "40465889" "00000" "2012-09-13 13:12:47" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00821" "MRXSH" "mental retardation, X-linked, syndromic, Hedera type (MRXSH)" "XLR" "300423" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02202" "XPDS" "Parkinsonism with spasticity, X-linked (XPDS)" "XLR" "300911" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06872" "CDG2R" "Congenital disorder of glycosylation, type IIr" "XLR" "301045" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ATP6AP2" "00139" "ATP6AP2" "00821" "ATP6AP2" "02202" "ATP6AP2" "06872" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00132793" "" "" "" "4" "" "00006" "{PMID:Korvatska 2013:23595882}" "4-generation family, 4 affected males, unaffected heterozygous carrier females" "M" "" "United States" "" "0" "" "" "" "23595882-Fam" "00132794" "" "" "" "7" "" "00006" "{PMID:Ramser 2005:15746149}" "3-generation family, 7 affected males" "M" "no" "" "" "0" "" "" "" "15746149-FamK8355" "00172646" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172647" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00434640" "" "" "" "1" "" "00006" "{PMID:Deshwar 2023:36990084}" "" "" "" "" "" "0" "" "" "" "CMC46" "00434863" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC46" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00132793" "02202" "00132794" "00821" "00172646" "00187" "00172647" "00187" "00434640" "05611" "00434863" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00821, 01157, 02202, 05611, 06872 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000105558" "02202" "00132793" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000105559" "00821" "00132794" "00006" "Familial, X-linked recessive" "" "see paper; ..., X-linked mental retardation, epilepsy" "" "" "" "seizures, ataxia" "" "" "" "" "" "" "" "" "0000137510" "00187" "00172646" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137511" "00187" "00172647" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000324890" "05611" "00434640" "00006" "Isolated (sporadic)" "" "global developmental delay, intellectual disability, epilepsy, inflammatory bowel disease" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000325102" "00198" "00434863" "00006" "Unknown" "" "mental retardation, inflammatory bowel disease" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000133628" "00132793" "1" "00006" "00006" "2017-11-08 21:09:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000133629" "00132794" "1" "00006" "00006" "2017-11-08 21:30:39" "00006" "2017-11-08 21:37:23" "DHPLC;RT-PCR;SEQ" "DNA" "" "" "0000173529" "00172646" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173530" "00172647" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000436111" "00434640" "1" "00006" "00006" "2023-04-04 16:14:37" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000436335" "00434863" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000133628" "ATP6AP2" "0000133629" "ATP6AP2" "0000173529" "HDAC6" "0000173530" "HDAC6" ## 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 = 57 "{{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}}" "0000001868" "0" "50" "X" "40460182" "40460183" "ins" "0" "00037" "ATP6AP2_000004" "g.40460182_40460183insAAA" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600930_40600931insAAA" "" "VUS" "" "0000001869" "0" "50" "X" "40460195" "40460196" "dup" "0" "00037" "ATP6AP2_000005" "g.40460195_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600943_40600944dup" "" "VUS" "" "0000001870" "0" "50" "X" "40460194" "40460196" "dup" "0" "00037" "ATP6AP2_000006" "g.40460194_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600942_40600944dup" "" "VUS" "" "0000002887" "20" "50" "X" "40447964" "40447967" "dup" "0" "00037" "ATP6AP2_000014" "g.40447964_40447967dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40588712_40588715dup" "" "VUS" "" "0000002888" "0" "50" "X" "40460195" "40460196" "dup" "0" "00037" "ATP6AP2_000012" "g.40460195_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600943_40600944dup" "" "VUS" "" "0000002889" "0" "50" "X" "40460196" "40460196" "dup" "0" "00037" "ATP6AP2_000013" "g.40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600944dup" "" "VUS" "" "0000006617" "20" "50" "X" "40456961" "40456961" "subst" "0.918088" "00037" "ATP6AP2_000009" "g.40456961G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40597709G>C" "" "VUS" "" "0000006618" "20" "50" "X" "40457085" "40457085" "subst" "0" "00037" "ATP6AP2_000003" "g.40457085T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40597833T>C" "" "VUS" "" "0000008673" "20" "50" "X" "40456961" "40456961" "subst" "0.918088" "00037" "ATP6AP2_000009" "g.40456961G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40597709G>C" "" "VUS" "" "0000008674" "20" "50" "X" "40457085" "40457085" "subst" "0" "00037" "ATP6AP2_000003" "g.40457085T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40597833T>C" "" "VUS" "" "0000008675" "0" "50" "X" "40460195" "40460196" "dup" "0" "00037" "ATP6AP2_000005" "g.40460195_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600943_40600944dup" "" "VUS" "" "0000008676" "0" "50" "X" "40460194" "40460196" "dup" "0" "00037" "ATP6AP2_000006" "g.40460194_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600942_40600944dup" "" "VUS" "" "0000010888" "20" "50" "X" "40447964" "40447967" "dup" "0" "00037" "ATP6AP2_000014" "g.40447964_40447967dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40588712_40588715dup" "" "VUS" "" "0000010889" "0" "50" "X" "40460195" "40460196" "dup" "0" "00037" "ATP6AP2_000012" "g.40460195_40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600943_40600944dup" "" "VUS" "" "0000010890" "0" "50" "X" "40460196" "40460196" "dup" "0" "00037" "ATP6AP2_000013" "g.40460196dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.40600944dup" "" "VUS" "" "0000222866" "21" "90" "X" "40456545" "40456545" "subst" "0" "00006" "ATP6AP2_000015" "g.40456545C>T" "" "{PMID:Korvatska 2013:23595882}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40597293C>T" "" "pathogenic" "" "0000222871" "20" "90" "X" "40456521" "40456521" "subst" "0" "00006" "ATP6AP2_000007" "g.40456521C>T" "" "{PMID:Ramser 2005:15746149}" "" "" "variant not in 1200 control chromosomes" "Germline" "yes" "" "0" "" "" "g.40597269C>T" "" "pathogenic" "" "0000251674" "0" "10" "X" "40460185" "40460185" "subst" "0" "02326" "ATP6AP2_000021" "g.40460185A>T" "" "" "" "ATP6AP2(NM_005765.3):c.858+52A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40600933A>T" "" "benign" "" "0000251944" "0" "30" "X" "40464934" "40464934" "subst" "4.4776E-5" "02326" "ATP6AP2_000024" "g.40464934A>G" "" "" "" "ATP6AP2(NM_005765.3):c.980A>G (p.N327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40605682A>G" "" "likely benign" "" "0000260249" "0" "30" "X" "40450585" "40450585" "subst" "0.043468" "02329" "ATP6AP2_000017" "g.40450585C>G" "" "" "" "ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40591333C>G" "" "likely benign" "" "0000260250" "0" "50" "X" "40464941" "40464941" "subst" "0" "02329" "ATP6AP2_000025" "g.40464941G>C" "" "" "" "ATP6AP2(NM_005765.3):c.987G>C (p.W329C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40605689G>C" "" "VUS" "" "0000261201" "0" "10" "X" "40450585" "40450585" "subst" "0.043468" "02326" "ATP6AP2_000017" "g.40450585C>G" "" "" "" "ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40591333C>G" "" "benign" "" "0000261202" "0" "30" "X" "40448233" "40448233" "subst" "0.000610548" "02326" "ATP6AP2_000016" "g.40448233T>C" "" "" "" "ATP6AP2(NM_005765.3):c.38-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40588981T>C" "" "likely benign" "" "0000261203" "0" "10" "X" "40457780" "40457780" "subst" "0" "02326" "ATP6AP2_000018" "g.40457780C>T" "" "" "" "ATP6AP2(NM_005765.3):c.535-153C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40598528C>T" "" "benign" "" "0000261204" "0" "10" "X" "40464822" "40464822" "subst" "0.00518108" "02326" "ATP6AP2_000022" "g.40464822G>C" "" "" "" "ATP6AP2(NM_005765.2):c.868G>C (p.(Ala290Pro)), ATP6AP2(NM_005765.3):c.868G>C (p.A290P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40605570G>C" "" "benign" "" "0000261205" "0" "30" "X" "40464909" "40464909" "subst" "0" "02326" "ATP6AP2_000023" "g.40464909T>G" "" "" "" "ATP6AP2(NM_005765.3):c.955T>G (p.L319V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40605657T>G" "" "likely benign" "" "0000263292" "0" "10" "X" "40450585" "40450585" "subst" "0.043468" "01943" "ATP6AP2_000017" "g.40450585C>G" "" "" "" "ATP6AP2(NM_005765.2):c.268C>G (p.P90A), ATP6AP2(NM_005765.3):c.268C>G (p.P90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40591333C>G" "" "benign" "" "0000263293" "0" "50" "X" "40458850" "40458850" "subst" "1.12294E-5" "01943" "ATP6AP2_000019" "g.40458850C>T" "" "" "" "ATP6AP2(NM_005765.2):c.595C>T (p.R199C, p.(Arg199Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40599598C>T" "" "VUS" "" "0000263294" "0" "30" "X" "40460097" "40460097" "subst" "8.40101E-5" "01943" "ATP6AP2_000020" "g.40460097T>C" "" "" "" "ATP6AP2(NM_005765.2):c.822T>C (p.I274=), ATP6AP2(NM_005765.3):c.822T>C (p.I274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40600845T>C" "" "likely benign" "" "0000333770" "0" "50" "X" "40458850" "40458850" "subst" "1.12294E-5" "01804" "ATP6AP2_000019" "g.40458850C>T" "" "" "" "ATP6AP2(NM_005765.2):c.595C>T (p.R199C, p.(Arg199Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40599598C>T" "" "VUS" "" "0000393388" "1" "30" "X" "40456854" "40456854" "subst" "1.11894E-5" "00124" "ATP6AP2_000026" "g.40456854C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L158L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.40597602C>T" "" "likely benign" "" "0000393389" "1" "30" "X" "40460040" "40460040" "subst" "0.079722" "00124" "ATP6AP2_000027" "g.40460040T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y255Y" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.40600788T>C" "" "likely benign" "" "0000575908" "0" "30" "X" "40440348" "40440348" "subst" "0" "01804" "ATP6AP2_000028" "g.40440348G>C" "" "" "" "ATP6AP2(NM_005765.2):c.31G>C (p.(Val11Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40581096G>C" "" "likely benign" "" "0000575909" "0" "30" "X" "40450506" "40450506" "subst" "0.000582095" "01943" "ATP6AP2_000029" "g.40450506C>T" "" "" "" "ATP6AP2(NM_005765.2):c.189C>T (p.L63=), ATP6AP2(NM_005765.3):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40591254C>T" "" "likely benign" "" "0000575910" "0" "30" "X" "40450506" "40450506" "subst" "0.000582095" "02326" "ATP6AP2_000029" "g.40450506C>T" "" "" "" "ATP6AP2(NM_005765.2):c.189C>T (p.L63=), ATP6AP2(NM_005765.3):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40591254C>T" "" "likely benign" "" "0000575911" "0" "30" "X" "40456492" "40456492" "subst" "0" "02326" "ATP6AP2_000030" "g.40456492A>T" "" "" "" "ATP6AP2(NM_005765.3):c.301-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40597240A>T" "" "likely benign" "" "0000575912" "0" "30" "X" "40458829" "40458829" "subst" "0" "02325" "ATP6AP2_000031" "g.40458829G>T" "" "" "" "ATP6AP2(NM_005765.3):c.589-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40599577G>T" "" "likely benign" "" "0000575913" "0" "50" "X" "40458873" "40458873" "subst" "0" "01943" "ATP6AP2_000032" "g.40458873T>A" "" "" "" "ATP6AP2(NM_005765.2):c.618T>A (p.D206E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40599621T>A" "" "VUS" "" "0000575914" "0" "10" "X" "40460040" "40460040" "subst" "0.079722" "02329" "ATP6AP2_000027" "g.40460040T>C" "" "" "" "ATP6AP2(NM_005765.3):c.765T>C (p.Y255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40600788T>C" "" "benign" "" "0000619547" "0" "30" "X" "40460097" "40460097" "subst" "8.40101E-5" "02326" "ATP6AP2_000020" "g.40460097T>C" "" "" "" "ATP6AP2(NM_005765.2):c.822T>C (p.I274=), ATP6AP2(NM_005765.3):c.822T>C (p.I274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40600845T>C" "" "likely benign" "" "0000619548" "0" "30" "X" "40464822" "40464822" "subst" "0.00518108" "01804" "ATP6AP2_000022" "g.40464822G>C" "" "" "" "ATP6AP2(NM_005765.2):c.868G>C (p.(Ala290Pro)), ATP6AP2(NM_005765.3):c.868G>C (p.A290P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40605570G>C" "" "likely benign" "" "0000624607" "0" "30" "X" "40456557" "40456557" "subst" "5.04038E-5" "01943" "ATP6AP2_000033" "g.40456557G>A" "" "" "" "ATP6AP2(NM_005765.2):c.357G>A (p.E119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40597305G>A" "" "likely benign" "" "0000624608" "0" "30" "X" "40465004" "40465004" "subst" "0.000375594" "01943" "ATP6AP2_000034" "g.40465004T>C" "" "" "" "ATP6AP2(NM_005765.2):c.1050T>C (p.D350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40605752T>C" "" "likely benign" "" "0000693584" "0" "30" "X" "40448320" "40448320" "subst" "4.47973E-5" "02325" "ATP6AP2_000035" "g.40448320G>A" "" "" "" "ATP6AP2(NM_005765.3):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693585" "0" "30" "X" "40460132" "40460132" "subst" "2.82802E-5" "01943" "ATP6AP2_000036" "g.40460132C>T" "" "" "" "ATP6AP2(NM_005765.2):c.857C>T (p.A286V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810369" "0" "30" "X" "40448332" "40448332" "subst" "0.000123224" "01943" "ATP6AP2_000037" "g.40448332C>T" "" "" "" "ATP6AP2(NM_005765.2):c.132C>T (p.D44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810370" "0" "50" "X" "40450512" "40450512" "subst" "0" "01943" "ATP6AP2_000038" "g.40450512G>A" "" "" "" "ATP6AP2(NM_005765.2):c.195G>A (p.V65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810371" "0" "50" "X" "40464900" "40464900" "subst" "1.11971E-5" "02325" "ATP6AP2_000039" "g.40464900G>A" "" "" "" "ATP6AP2(NM_005765.3):c.946G>A (p.A316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856597" "0" "50" "X" "40440292" "40440292" "del" "0" "02325" "ATP6AP2_000040" "g.40440292del" "" "" "" "ATP6AP2(NM_005765.3):c.-26delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856598" "0" "50" "X" "40458854" "40458854" "subst" "0" "01943" "ATP6AP2_000043" "g.40458854A>G" "" "" "" "ATP6AP2(NM_005765.2):c.599A>G (p.H200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867358" "0" "50" "X" "40448306" "40448306" "subst" "1.11939E-5" "01943" "ATP6AP2_000041" "g.40448306C>T" "" "" "" "ATP6AP2(NM_005765.2):c.106C>T (p.P36S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867359" "0" "50" "X" "40456515" "40456515" "subst" "3.92506E-5" "01943" "ATP6AP2_000042" "g.40456515T>G" "" "" "" "ATP6AP2(NM_005765.2):c.315T>G (p.S105R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896208" "0" "50" "X" "40440272" "40440272" "subst" "0.000517294" "02325" "ATP6AP2_000044" "g.40440272C>A" "" "" "" "ATP6AP2(NM_005765.3):c.-46C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922452" "0" "90" "X" "40456490" "40456491" "del" "0" "00006" "ATP6AP2_000045" "g.40456490_40456491del" "" "{PMID:Deshwar 2023:36990084}" "" "" "" "De novo" "" "" "0" "" "" "g.40597238_40597239del" "" "pathogenic" "" "0000922697" "0" "50" "X" "40456490" "40456491" "del" "0" "00006" "ATP6AP2_000045" "g.40456490_40456491del" "" "{PMID:Gostain 2020:32960281}" "" "301-11_301-10delTT" "" "De novo" "" "" "0" "" "" "g.40597238_40597239del" "" "VUS" "" "0001006747" "0" "50" "X" "40448358" "40448358" "subst" "1.68386E-5" "02325" "ATP6AP2_000046" "g.40448358C>T" "" "" "" "ATP6AP2(NM_005765.3):c.158C>T (p.S53F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016030" "0" "50" "X" "40465002" "40465002" "subst" "0" "02325" "ATP6AP2_000047" "g.40465002G>A" "" "" "" "ATP6AP2(NM_005765.3):c.1048G>A (p.D350N)" "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 ATP6AP2 ## Count = 57 "{{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}}" "0000001868" "00001104" "50" "858" "49" "858" "50" "c.858+49_858+50insAAA" "r.(=)" "p.(=)" "" "0000001869" "00001104" "50" "858" "62" "858" "63" "c.858+62_858+63dup" "r.(=)" "p.(=)" "" "0000001870" "00001104" "50" "858" "61" "858" "63" "c.858+61_858+63dup" "r.(=)" "p.(=)" "" "0000002887" "00001104" "50" "38" "-274" "38" "-271" "c.38-274_38-271dup" "r.(=)" "p.(=)" "" "0000002888" "00001104" "50" "858" "62" "858" "63" "c.858+62_858+63dup" "r.(=)" "p.(=)" "" "0000002889" "00001104" "50" "858" "63" "858" "63" "c.858+63dup" "r.(=)" "p.(=)" "" "0000006617" "00001104" "50" "534" "45" "534" "45" "c.534+45G>C" "r.(=)" "p.(=)" "" "0000006618" "00001104" "50" "534" "169" "534" "169" "c.534+169T>C" "r.(=)" "p.(=)" "" "0000008673" "00001104" "50" "534" "45" "534" "45" "c.534+45G>C" "r.(=)" "p.(=)" "" "0000008674" "00001104" "50" "534" "169" "534" "169" "c.534+169T>C" "r.(=)" "p.(=)" "" "0000008675" "00001104" "50" "858" "62" "858" "63" "c.858+62_858+63dup" "r.(=)" "p.(=)" "" "0000008676" "00001104" "50" "858" "61" "858" "63" "c.858+61_858+63dup" "r.(=)" "p.(=)" "" "0000010888" "00001104" "50" "38" "-274" "38" "-271" "c.38-274_38-271dup" "r.(=)" "p.(=)" "" "0000010889" "00001104" "50" "858" "62" "858" "63" "c.858+62_858+63dup" "r.(=)" "p.(=)" "" "0000010890" "00001104" "50" "858" "63" "858" "63" "c.858+63dup" "r.(=)" "p.(=)" "" "0000222866" "00001104" "90" "345" "0" "345" "0" "c.345C>T" "r.301_396del" "p.Ala101_Glu132del" "4" "0000222871" "00001104" "90" "321" "0" "321" "0" "c.321C>T" "r.301_396del" "p.Ala101_Glu132del" "4" "0000251674" "00001104" "10" "858" "52" "858" "52" "c.858+52A>T" "r.(=)" "p.(=)" "" "0000251944" "00001104" "30" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Asn327Ser)" "" "0000260249" "00001104" "30" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Pro90Ala)" "" "0000260250" "00001104" "50" "987" "0" "987" "0" "c.987G>C" "r.(?)" "p.(Trp329Cys)" "" "0000261201" "00001104" "10" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Pro90Ala)" "" "0000261202" "00001104" "30" "38" "-5" "38" "-5" "c.38-5T>C" "r.spl?" "p.?" "" "0000261203" "00001104" "10" "535" "-153" "535" "-153" "c.535-153C>T" "r.(=)" "p.(=)" "" "0000261204" "00001104" "10" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Ala290Pro)" "" "0000261205" "00001104" "30" "955" "0" "955" "0" "c.955T>G" "r.(?)" "p.(Leu319Val)" "" "0000263292" "00001104" "10" "268" "0" "268" "0" "c.268C>G" "r.(?)" "p.(Pro90Ala)" "" "0000263293" "00001104" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0000263294" "00001104" "30" "822" "0" "822" "0" "c.822T>C" "r.(?)" "p.(Ile274=)" "" "0000333770" "00001104" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0000393388" "00001104" "30" "472" "0" "472" "0" "c.472C>T" "r.(=)" "p.(=)" "" "0000393389" "00001104" "30" "765" "0" "765" "0" "c.765T>C" "r.(=)" "p.(=)" "" "0000575908" "00001104" "30" "31" "0" "31" "0" "c.31G>C" "r.(?)" "p.(Val11Leu)" "" "0000575909" "00001104" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" "" "0000575910" "00001104" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" "" "0000575911" "00001104" "30" "301" "-9" "301" "-9" "c.301-9A>T" "r.(=)" "p.(=)" "" "0000575912" "00001104" "30" "589" "-15" "589" "-15" "c.589-15G>T" "r.(=)" "p.(=)" "" "0000575913" "00001104" "50" "618" "0" "618" "0" "c.618T>A" "r.(?)" "p.(Asp206Glu)" "" "0000575914" "00001104" "10" "765" "0" "765" "0" "c.765T>C" "r.(?)" "p.(Tyr255=)" "" "0000619547" "00001104" "30" "822" "0" "822" "0" "c.822T>C" "r.(?)" "p.(Ile274=)" "" "0000619548" "00001104" "30" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Ala290Pro)" "" "0000624607" "00001104" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Glu119=)" "" "0000624608" "00001104" "30" "1050" "0" "1050" "0" "c.1050T>C" "r.(?)" "p.(Asp350=)" "" "0000693584" "00001104" "30" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(Glu40=)" "" "0000693585" "00001104" "30" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.(Ala286Val)" "" "0000810369" "00001104" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Asp44=)" "" "0000810370" "00001104" "50" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Val65=)" "" "0000810371" "00001104" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Ala316Thr)" "" "0000856597" "00001104" "50" "-26" "0" "-26" "0" "c.-26del" "r.(?)" "p.(=)" "" "0000856598" "00001104" "50" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.(His200Arg)" "" "0000867358" "00001104" "50" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Pro36Ser)" "" "0000867359" "00001104" "50" "315" "0" "315" "0" "c.315T>G" "r.(?)" "p.(Ser105Arg)" "" "0000896208" "00001104" "50" "-46" "0" "-46" "0" "c.-46C>A" "r.(?)" "p.(=)" "" "0000922452" "00001104" "90" "301" "-11" "301" "-10" "c.301-11_301-10delTT" "r.301_396del" "p.Ala101_Glu132del" "" "0000922697" "00001104" "50" "301" "-11" "301" "-10" "c.301-11_301-10del" "r.spl?" "p.?" "" "0001006747" "00001104" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ser53Phe)" "" "0001016030" "00001104" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Asp350Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001868" "0000000209" "0000001869" "0000000209" "0000001870" "0000000209" "0000002887" "0000000209" "0000002888" "0000000209" "0000002889" "0000000209" "0000006617" "0000000209" "0000006618" "0000000210" "0000008673" "0000000210" "0000008674" "0000000210" "0000008675" "0000000210" "0000008676" "0000000210" "0000010888" "0000000210" "0000010889" "0000000210" "0000010890" "0000133628" "0000222866" "0000133629" "0000222871" "0000173529" "0000393388" "0000173530" "0000393389" "0000436111" "0000922452" "0000436335" "0000922697"