### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VMA21) # 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}}" "VMA21" "VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)" "X" "q28" "unknown" "LRG_860" "UD_132118903448" "" "https://www.LOVD.nl/VMA21" "" "1" "22082" "203547" "300913" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/VMA21_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2010-03-01 00:00:00" "00006" "2017-12-28 17:16:16" "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}}" "00000679" "VMA21" "VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)" "001" "NM_001017980.3" "" "NP_001017980.1" "" "" "" "-124" "4612" "306" "150565657" "150577836" "00000" "2012-09-13 12:46:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05359" "MEAX" "myopathy, X-linked, with excessive autophagy (MEAX)" "XLR" "310440" "" "X-linked recessive" "" "00006" "2017-12-28 17:22:37" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VMA21" "05359" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "" "" "00146446" "" "" "" "1" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 1 affected" "M" "" "France" "" "0" "" "" "" "19379691-Fam3" "00146447" "" "" "" "3" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 3 affecteds" "M" "" "United States" "" "0" "" "" "" "19379691-Fam1" "00146448" "" "" "" "1" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 1 affected" "M" "" "Italy" "" "0" "" "" "" "19379691-Fam2" "00146449" "" "" "" "2" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam4" "00146450" "" "" "" "2" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam5" "00146451" "" "" "" "2" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam6" "00146452" "" "" "" "4" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 4 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam7" "00146453" "" "" "" "2" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 2 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam8" "00146454" "" "" "" "5" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 5 affecteds" "M" "" "France" "" "0" "" "" "" "19379691-Fam9" "00146455" "" "" "" "5" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 5 affecteds" "M" "" "Finland" "" "0" "" "" "" "19379691-Fam10" "00146456" "" "" "" "2" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 2 affecteds" "M" "" "Finland" "" "0" "" "" "" "19379691-Fam11" "00146457" "" "" "" "7" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 7 affecteds" "M" "" "United States" "" "0" "" "" "" "19379691-Fam12" "00146458" "" "" "" "10" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 10 affecteds" "M" "" "United States" "" "0" "" "" "" "19379691-Fam13" "00146459" "" "" "" "3" "" "00006" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "family, 3 affecteds" "M" "" "United States" "" "0" "" "" "" "19379691-Fam14" "00146460" "" "" "" "3" "" "00006" "{PMID:Kurashige 2013:23850239}" "4-generation family, 3 affecteds (3M), unaffected carrier females" "M" "no" "Japan" "" "0" "" "" "" "23850239-FamPatIII1" "00146461" "" "" "" "1" "" "00006" "{PMID:Crockett 2014:24488655}" "2-generation family, 2 affected brothers" "M" "" "United States" "" "0" "" "" "" "24488655-FamPat1" "00146462" "" "" "" "1" "" "00006" "{PMID:Yan 2005:16217076}" "5-generation family, 7 affecteds (7M)" "M" "no" "United States" "" "0" "" "" "China" "16217076-FamPat" "00146463" "" "" "" "1" "" "00006" "{PMID:Ruggieri 2015:25683699}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Italy" "" "0" "" "" "" "25683699-Pat1" "00146464" "" "" "" "1" "" "00006" "{PMID:Ruggieri 2015:25683699}" "2-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "European" "25683699-Pat2" "00294961" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314519" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00431415" "" "" "" "1" "" "04468" "" "" "M" "" "Spain" "17y" "0" "" "" "" "III-4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00146446" "05359" "00146447" "05359" "00146448" "05359" "00146449" "05359" "00146450" "05359" "00146451" "05359" "00146452" "05359" "00146453" "05359" "00146454" "05359" "00146455" "05359" "00146456" "05359" "00146457" "05359" "00146458" "05359" "00146459" "05359" "00146460" "05359" "00146461" "05359" "00146462" "00244" "00146463" "05359" "00146464" "05359" "00294961" "00198" "00314519" "05126" "00431415" "05359" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01157, 05126, 05359 ## Count = 22 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000119186" "05359" "00146446" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119187" "05359" "00146447" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119188" "05359" "00146448" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119189" "05359" "00146449" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119190" "05359" "00146450" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119191" "05359" "00146451" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119192" "05359" "00146452" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119193" "05359" "00146453" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119194" "05359" "00146454" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119195" "05359" "00146455" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119196" "05359" "00146456" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119197" "05359" "00146457" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119198" "05359" "00146458" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119199" "05359" "00146459" "00006" "Familial, X-linked recessive" "" "" "" "" "" "IHC VMA21 reduced" "" "" "" "" "" "" "" "0000119200" "05359" "00146460" "00006" "Familial, X-linked recessive" "52y" "see paper; ..., learned to walk normally, 6y-unable to keep pace with companions running; muscle weakness progressed slowly, 52y-ambulatory without assistance, able to work (medical laboratory technician; 52y-cardiac and respiratory functions normal; raised CPK (450 IU/l;)" "" "" "" "" "" "" "" "" "" "" "" "0000119201" "05359" "00146461" "00006" "Familial, X-linked recessive" "65y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000119202" "05359" "00146462" "00006" "Familial, X-linked recessive" "" "see paper; ..., 5/7 died soon after birth due to inability to breathe and suckle" "" "" "" "" "" "" "" "" "" "" "" "0000119203" "00244" "00146462" "00006" "Familial, X-linked recessive" "" "congenital autophagic vacuolar myopathy; see paper; ..., 5/7 died soon after birth due to inability to breathe and suckle" "" "" "" "" "" "" "" "" "" "" "" "0000119204" "05359" "00146463" "00006" "Familial, X-linked recessive" "14y" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "0000119205" "05359" "00146464" "00006" "Familial, X-linked recessive" "21y" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{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" "" "" "0000147301" "00146446" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147302" "00146447" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147303" "00146448" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147304" "00146449" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147305" "00146450" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147306" "00146451" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147307" "00146452" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147308" "00146453" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147309" "00146454" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147310" "00146455" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147311" "00146456" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147312" "00146457" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147313" "00146458" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147314" "00146459" "1" "00006" "00006" "2010-03-12 16:21:08" "00006" "2012-03-04 15:57:59" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147315" "00146460" "1" "00006" "00006" "2017-12-28 18:41:27" "" "" "SEQ" "DNA" "" "" "0000147316" "00146461" "1" "00006" "00006" "2017-12-28 18:46:54" "" "" "SEQ" "DNA" "" "" "0000147317" "00146462" "1" "00006" "00006" "2017-12-28 18:54:40" "" "" "SEQ" "DNA" "" "" "0000147318" "00146463" "1" "00006" "00006" "2017-12-28 19:06:26" "" "" "RT-PCR" "DNA;RNA" "" "" "0000147319" "00146464" "1" "00006" "00006" "2017-12-28 19:11:19" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000296129" "00294961" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315692" "00314519" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432829" "00431415" "1" "04468" "04468" "2023-02-12 20:19:16" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000147301" "VMA21" "0000147302" "VMA21" "0000147303" "VMA21" "0000147304" "VMA21" "0000147305" "VMA21" "0000147306" "VMA21" "0000147307" "VMA21" "0000147308" "VMA21" "0000147309" "VMA21" "0000147310" "VMA21" "0000147311" "VMA21" "0000147312" "VMA21" "0000147313" "VMA21" "0000147314" "VMA21" "0000147315" "VMA21" "0000147316" "VMA21" "0000147317" "VMA21" "0000147318" "VMA21" "0000147319" "VMA21" "0000315692" "VMA21" "0000432829" "VMA21" ## 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 = 29 "{{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}}" "0000003298" "0" "30" "X" "150576366" "150576367" "del" "0" "00037" "VMA21_000008" "g.150576366_150576367del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.151407894_151407895del" "" "likely benign" "" "0000010032" "0" "30" "X" "150573334" "150573334" "dup" "0" "00037" "VMA21_000007" "g.150573334dup" "" "" "" "164-66_164-65insT" "" "Germline" "" "" "0" "" "" "g.151404862dup" "" "likely benign" "" "0000239985" "1" "90" "X" "150572076" "150572076" "subst" "0" "00006" "VMA21_000006" "g.150572076A>C" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403604A>C" "" "pathogenic" "" "0000239986" "1" "90" "X" "150572076" "150572076" "subst" "0" "00006" "VMA21_000001" "g.150572076A>T" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403604A>T" "" "pathogenic" "" "0000239987" "1" "90" "X" "150572076" "150572076" "subst" "0" "00006" "VMA21_000001" "g.150572076A>T" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "affects branchpoint, mRNA 50% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403604A>T" "" "pathogenic" "" "0000239988" "1" "90" "X" "150572216" "150572216" "subst" "0" "00006" "VMA21_000002" "g.150572216A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 45% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403744A>G" "" "pathogenic" "" "0000239989" "1" "90" "X" "150572216" "150572216" "subst" "0" "00006" "VMA21_000002" "g.150572216A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 45% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403744A>G" "" "pathogenic" "" "0000239990" "1" "90" "X" "150572216" "150572216" "subst" "0" "00006" "VMA21_000002" "g.150572216A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 45% reduced; not in 720 control chromosomes" "Germline" "" "" "0" "" "" "g.151403744A>G" "" "pathogenic" "" "0000239991" "1" "90" "X" "150573381" "150573381" "subst" "0" "00006" "VMA21_000003" "g.150573381T>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 40% reduced; not in 930 control chromosomes" "Germline" "" "" "0" "" "" "g.151404909T>G" "" "pathogenic" "" "0000239992" "1" "90" "X" "150573381" "150573381" "subst" "0" "00006" "VMA21_000003" "g.150573381T>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 40% reduced; not in 930 control chromosomes" "Germline" "" "" "0" "" "" "g.151404909T>G" "" "pathogenic" "" "0000239993" "1" "90" "X" "150573381" "150573381" "subst" "0" "00006" "VMA21_000003" "g.150573381T>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 40% reduced; not in 930 control chromosomes" "Germline" "" "" "0" "" "" "g.151404909T>G" "" "pathogenic" "" "0000239994" "1" "90" "X" "150573496" "150573496" "subst" "0" "00006" "VMA21_000004" "g.150573496G>C" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 30% reduced; not in 608 control chromosomes" "Germline" "" "" "0" "" "" "g.151405024G>C" "" "pathogenic" "" "0000239995" "1" "90" "X" "150573496" "150573496" "subst" "0" "00006" "VMA21_000004" "g.150573496G>C" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 30% reduced; not in 608 control chromosomes" "Germline" "" "" "0" "" "" "g.151405024G>C" "" "pathogenic" "" "0000239996" "1" "90" "X" "150573536" "150573536" "subst" "0" "00006" "VMA21_000005" "g.150573536A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 50-60% reduced; not in 608 control chromosomes" "Germline" "" "" "0" "" "" "g.151405064A>G" "" "pathogenic" "" "0000239997" "1" "90" "X" "150573536" "150573536" "subst" "0" "00006" "VMA21_000005" "g.150573536A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 50-60% reduced; not in 608 control chromosomes" "Germline" "" "" "0" "" "" "g.151405064A>G" "" "pathogenic" "" "0000239998" "1" "90" "X" "150573536" "150573536" "subst" "0" "00006" "VMA21_000005" "g.150573536A>G" "" "{PMID:Ramachandran 2013:23315026} (retracted {PMID:Ramachandran 2009:19379691})" "" "" "mRNA 50-60% reduced; not in 608 control chromosomes" "Germline" "" "" "0" "" "" "g.151405064A>G" "" "pathogenic" "" "0000239999" "21" "90" "X" "150573381" "150573381" "subst" "0" "00006" "VMA21_000003" "g.150573381T>G" "" "{PMID:Kurashige 2013:23850239}" "" "" "" "Germline" "yes" "" "0" "" "" "g.151404909T>G" "" "pathogenic" "" "0000240000" "20" "90" "X" "150573381" "150573381" "subst" "0" "00006" "VMA21_000003" "g.150573381T>G" "" "{PMID:Crockett 2014:24488655}" "" "" "" "Germline" "" "" "0" "" "" "g.151404909T>G" "" "pathogenic" "" "0000240001" "20" "90" "X" "150573382" "150573382" "subst" "0" "00006" "VMA21_000009" "g.150573382T>G" "" "{PMID:Munteanu 2015:25817839}" "" "" "not in 949 control chromosomes; mRNA reduced to 0.22-0.25 (0.45-0.69 in MEAX cases), V-ATPase activity reduced to 0.13 (0.16-0.22 in MEAX cases)" "Germline" "" "" "0" "" "" "g.151404910T>G" "" "pathogenic" "" "0000240002" "21" "90" "X" "150573543" "150573634" "del" "0" "00006" "VMA21_000010" "g.150573543_150573634del" "" "{PMID:Ruggieri 2015:25683699}" "" "" "mRNA reduced to 0.40-0.50, dramatically redcued VMA21 protein" "Germline" "" "" "0" "" "" "g.151405071_151405162del" "" "pathogenic" "" "0000240003" "20" "90" "X" "150572087" "150572095" "del" "0" "00006" "VMA21_000011" "g.150572087_150572095del" "" "{PMID:Ruggieri 2015:25683699" "" "" "mRNA reduced to 0.40-0.50, dramatically redcued VMA21 protein" "Germline" "" "" "0" "" "" "g.151403615_151403623del" "" "pathogenic" "" "0000335879" "0" "50" "X" "150573389" "150573389" "subst" "0.000962475" "01804" "VMA21_000012" "g.150573389C>T" "" "" "" "VMA21(NM_001017980.3):c.165C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151404917C>T" "" "VUS" "" "0000347685" "0" "50" "X" "150565783" "150565783" "subst" "0" "02327" "VMA21_000013" "g.150565783G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.151397311G>T" "" "VUS" "" "0000652818" "1" "90" "X" "150572216" "150572216" "subst" "0" "03575" "VMA21_000002" "g.150572216A>G" "1/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044909}" "Germline" "" "rs797044909" "0" "" "" "g.151403744A>G" "" "pathogenic" "" "0000697781" "0" "70" "X" "150565396" "150565396" "del" "0" "00006" "VMA21_000014" "g.150565396del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "NM_001363810.1:c.85del (S29Afs*50)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.151396924del" "" "likely pathogenic" "" "0000728529" "0" "30" "X" "150572228" "150572228" "subst" "0.00350398" "02326" "VMA21_000015" "g.150572228T>G" "" "" "" "VMA21(NM_001017980.3):c.163+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918445" "21" "90" "X" "150573518" "150573518" "subst" "0" "04468" "VMA21_000016" "g.150573518C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.151405046C>T" "" "likely pathogenic" "ACMG" "0001044159" "0" "30" "X" "150565355" "150565355" "subst" "0.00360205" "01804" "VMA21_000017" "g.150565355C>T" "" "" "" "VMA21(NM_001363810.1):c.44C>T (p.(Ala15Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046841" "0" "30" "X" "150572193" "150572193" "subst" "0.00014019" "02326" "VMA21_000018" "g.150572193T>G" "" "" "" "VMA21(NM_001017980.3):c.144T>G (p.T48=)" "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 VMA21 ## Count = 29 "{{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}}" "0000003298" "00000679" "30" "3142" "0" "3143" "0" "c.*2836_*2837del" "r.(?)" "p.(=)" "3" "0000010032" "00000679" "30" "164" "-54" "164" "-54" "c.164-54dup" "r.(?)" "p.(=)" "2i" "0000239985" "00000679" "90" "54" "-27" "54" "-27" "c.54-27A>C" "r.spl" "p.=" "1i" "0000239986" "00000679" "90" "54" "-27" "54" "-27" "c.54-27A>T" "r.spl" "p.=" "1i" "0000239987" "00000679" "90" "54" "-27" "54" "-27" "c.54-27A>T" "r.spl" "p.=" "1i" "0000239988" "00000679" "90" "163" "4" "163" "4" "c.163+4A>G" "r.spl" "p.=" "2i" "0000239989" "00000679" "90" "163" "4" "163" "4" "c.163+4A>G" "r.spl" "p.=" "2i" "0000239990" "00000679" "90" "163" "4" "163" "4" "c.163+4A>G" "r.spl" "p.=" "2i" "0000239991" "00000679" "90" "164" "-7" "164" "-7" "c.164-7T>G" "r.spl" "p.=" "2i" "0000239992" "00000679" "90" "164" "-7" "164" "-7" "c.164-7T>G" "r.spl" "p.=" "2i" "0000239993" "00000679" "90" "164" "-7" "164" "-7" "c.164-7T>G" "r.spl" "p.=" "2i" "0000239994" "00000679" "90" "272" "0" "272" "0" "c.272G>C" "r.272g>c" "p.Gly91Ala" "3" "0000239995" "00000679" "90" "272" "0" "272" "0" "c.272G>C" "r.272g>c" "p.Gly91Ala" "3" "0000239996" "00000679" "90" "312" "0" "312" "0" "c.*6A>G" "r.(spl?)" "p.=" "3" "0000239997" "00000679" "90" "312" "0" "312" "0" "c.*6A>G" "r.(spl?)" "p.=" "3" "0000239998" "00000679" "90" "312" "0" "312" "0" "c.*6A>G" "r.(spl?)" "p.=" "3" "0000239999" "00000679" "90" "164" "-7" "164" "-7" "c.164-7T>G" "r.spl?" "p.(=)" "2i" "0000240000" "00000679" "90" "164" "-7" "164" "-7" "c.164-7T>G" "r.spl?" "p.(=)" "2i" "0000240001" "00000679" "90" "164" "-6" "164" "-6" "c.164-6T>G" "r.=|[0.22]" "p.=|[0.13]" "2i" "0000240002" "00000679" "90" "319" "0" "410" "0" "c.*13_*104del" "r.=|[0.45]" "p.=|red" "3" "0000240003" "00000679" "90" "54" "-16" "54" "-8" "c.54-16_54-8del" "r.=|[0.45]" "p.=|red" "1i" "0000335879" "00000679" "50" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Gly55=)" "" "0000347685" "00000679" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000652818" "00000679" "90" "163" "4" "163" "4" "c.163+4A>G" "r.spl?" "p.?" "" "0000697781" "00000679" "70" "85" "0" "85" "0" "c.85del" "r.?" "p.(Ser29Alafs*50)" "" "0000728529" "00000679" "30" "163" "16" "163" "16" "c.163+16T>G" "r.(=)" "p.(=)" "" "0000918445" "00000679" "90" "294" "0" "294" "0" "c.294C>T" "r.293_306delinsggacaaaaaccugaaugagacgccucuaccca" "p.Lys99_Asp101delinsThrLysThr" "3" "0001044159" "00000679" "30" "-426" "0" "-426" "0" "c.-426C>T" "r.(?)" "p.(=)" "" "0001046841" "00000679" "30" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003298" "0000000210" "0000010032" "0000147301" "0000239985" "0000147302" "0000239986" "0000147303" "0000239987" "0000147304" "0000239988" "0000147305" "0000239989" "0000147306" "0000239990" "0000147307" "0000239991" "0000147308" "0000239992" "0000147309" "0000239993" "0000147310" "0000239994" "0000147311" "0000239995" "0000147312" "0000239996" "0000147313" "0000239997" "0000147314" "0000239998" "0000147315" "0000239999" "0000147316" "0000240000" "0000147317" "0000240001" "0000147318" "0000240002" "0000147319" "0000240003" "0000296129" "0000652818" "0000315692" "0000697781" "0000432829" "0000918445"