### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CASQ1) # 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}}" "CASQ1" "calsequestrin 1 (fast-twitch, skeletal muscle)" "1" "q21" "unknown" "NC_000001.10" "UD_132319190166" "" "https://www.LOVD.nl/CASQ1" "" "1" "1512" "844" "114250" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CASQ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-23 15:32:20" "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}}" "00004391" "CASQ1" "calsequestrin 1 (fast-twitch, skeletal muscle)" "001" "NM_001231.4" "" "NP_001222.3" "" "" "" "-257" "1701" "1191" "160160285" "160171676" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01456" "TAM1" "myopathy, tubular aggregates, type 1 (TAM-1)" "AD" "160565" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04322" "VMCQA" "myopathy, vacuolar, with CASQ1 aggregates (VMCQA)" "AD" "616231" "" "" "" "00006" "2015-09-04 22:30:20" "00006" "2021-12-10 21:51:32" "05310" "myotonia" "myotonia" "AD;AR;SMo" "" "" "" "" "00006" "2017-07-24 11:41:43" "00006" "2021-12-10 21:51:32" "05313" "TAM" "myopathy, tubular aggregates (TAM)" "" "" "" "" "" "00006" "2017-07-30 14:58:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CASQ1" "04322" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00018415" "" "" "" "2" "" "00751" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}" "2-generation family, affected father and son" "M" "no" "Italy" "" "0" "" "" "" "" "00049022" "" "" "" "5" "" "00006" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}" "3-generation family, 5 affecteds (F, 4M); unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "" "00049023" "" "" "" "5" "" "00006" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}" "3-generation family, 5 affecteds (4F, M)" "" "no" "Italy" "" "0" "" "" "" "" "00049024" "" "" "" "2" "" "00006" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}" "2-generation family, affected mother and son" "" "no" "Italy" "" "0" "" "" "" "" "00049025" "" "" "" "1" "" "00006" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}" "sporadic patient" "M" "" "Italy" "" "0" "" "" "" "" "00049026" "" "" "" "4" "" "00006" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}" "2-generation family, 4 affecteds (2F, 2M)" "" "yes" "Italy" "" "0" "" "" "" "" "00049061" "" "" "" "3" "" "00006" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}" "3-generation family, 3 affecteds (mother, grandmother, daugther)" "F" "no" "Italy" "" "0" "" "" "" "" "00049062" "" "" "" "3" "" "00006" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}" "3-generation family, 3 affecteds (3M)" "M" "no" "Italy" "" "0" "" "" "" "" "00103948" "" "" "" "16" "" "00006" "{PMID:Kraeva 2013:23460944}, {DOI:Kraeva 2013:10.1097/ALN.0b013e318279f925}" "" "" "" "United States" "" "0" "" "" "" "23460944-?" "00106535" "" "" "" "1" "" "01850" "" "3-generation family" "" "no" "Germany" "" "0" "" "" "" "" "00106536" "" "" "" "1" "" "01850" "" "" "M" "no" "" "" "0" "" "" "" "103901" "00117222" "" "" "" "1" "" "00751" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "Italy" "" "0" "" "" "" "" "00117223" "" "" "" "1" "" "00751" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "Italy" "" "0" "" "" "" "" "00117224" "" "" "" "1" "" "00751" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "" "" "0" "" "" "" "" "00117225" "" "" "" "1" "" "00751" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "Italy" "" "0" "" "" "" "" "00411968" "" "" "" "1" "" "00006" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "analysis 109 patients" "M" "" "Italy" "" "0" "" "" "" "Pat45" "00460276" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, no family history" "" "" "Spain" "" "0" "" "" "" "Pat47" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00018415" "04322" "00049022" "04322" "00049023" "04322" "00049024" "04322" "00049025" "04322" "00049026" "04322" "00049061" "04322" "00049062" "04322" "00103948" "00198" "00106535" "01456" "00106536" "01456" "00117222" "05313" "00117223" "05313" "00117224" "05313" "00117225" "05313" "00411968" "05310" "00460276" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01273, 01456, 04322, 05310, 05313 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{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}}" "0000035735" "04322" "00049022" "00006" "Familial, autosomal dominant" "" "see paper; myopathy, weakness, fatigue, large vacuoles with inclusions of aggregatied sarcoplasmic reticulum proteins, mild myalgia, cramps, ..." "" "5x" "" "" "" "" "" "" "" "" "" "" "0000035736" "04322" "00018415" "00751" "Familial, autosomal dominant" "" "weakness, fatigue, increased CK levels, large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins" "" "" "" "" "" "" "" "" "" "" "" "" "0000035737" "04322" "00049023" "00006" "Familial, autosomal dominant" "" "see paper; myopathy, weakness, fatigue, large vacuoles with inclusions of aggregatied sarcoplasmic reticulum proteins, ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000035738" "04322" "00049024" "00006" "Familial, autosomal dominant" "" "see paper; myopathy, weakness, fatigue, large vacuoles with inclusions of aggregatied sarcoplasmic reticulum proteins, ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000035739" "04322" "00049025" "00006" "Isolated (sporadic)" "44y" "see paper; 10m history of exercise-induced muscle pain, early fatigue\r\nin daily activities" "" "16x" "" "" "" "" "" "" "" "" "" "" "0000035740" "04322" "00049026" "00006" "Familial, autosomal dominant" "" "see paper; muscle cramps/mild weakness of neck, right arm and thigh flexors, vacuolated fibres, ..." "" "1-30x" "" "" "" "" "" "" "" "" "" "" "0000035806" "04322" "00049061" "00006" "Familial, autosomal dominant" "" "see paper; myalgia, mild lower limb muscle hypertrophy, vacuolated fibres" "" "6-22x" "" "" "" "" "" "" "" "" "" "" "0000035807" "04322" "00049062" "00006" "Familial, autosomal dominant" "" "see paper; myalgia, muscle cramps, mild lower limb muscle hypertrophy, vacuolated fibres, ..." "" "1-35x" "" "" "" "" "" "" "" "" "" "" "0000081876" "00198" "00103948" "00006" "Unknown" "" "malignant hyperthermia susceptibility" "" "" "" "" "" "" "" "" "" "" "" "" "0000087159" "01456" "00106535" "01850" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087160" "01456" "00106536" "01850" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092469" "05313" "00117222" "00751" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092470" "05313" "00117223" "00751" "Isolated (sporadic)" "67y" "muscle fatigue" "" "" "" "" "" "" "" "" "" "" "" "" "0000092471" "05313" "00117224" "00751" "Isolated (sporadic)" "52y" "exercise-induced muscle pain, muscle stiffness and early fatigue" "42y" "" "" "" "" "" "" "" "" "" "" "" "0000092472" "05313" "00117225" "00751" "Isolated (sporadic)" "?" "myalgia and proximal muscle weakness" "?" "" "" "" "" "" "" "" "" "" "" "" "0000303995" "05310" "00411968" "00006" "Unknown" "" "muscle stiffness, myalgias, increased CK levels" "" "" "" "" "" "" "" "" "" "FCAS2" "non-dystrophic myotonia" "" "0000348005" "01273" "00460276" "00006" "Unknown" "10y-18y" "myalgia; elevated CK level 300-500 UI/L; non-specific myopathic features; MRI muscle normal; EMG normal" "" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "myalgia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018397" "00018415" "1" "00751" "00751" "2014-07-17 19:36:12" "" "" "SEQ" "DNA" "" "" "0000048938" "00049022" "1" "00006" "00006" "2015-09-04 22:41:36" "" "" "SEQ" "DNA" "" "" "0000048939" "00049023" "1" "00006" "00006" "2015-09-04 22:56:19" "" "" "SEQ" "DNA" "" "" "0000048940" "00049024" "1" "00006" "00006" "2015-09-04 22:59:41" "" "" "SEQ" "DNA" "" "" "0000048941" "00049025" "1" "00006" "00006" "2015-09-04 23:05:13" "" "" "SEQ" "DNA" "" "" "0000048942" "00049026" "1" "00006" "00006" "2015-09-04 23:25:04" "00006" "2015-09-04 23:28:47" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000048977" "00049061" "1" "00006" "00006" "2015-09-06 14:34:16" "" "" "SEQ" "DNA" "" "" "0000048978" "00049062" "1" "00006" "00006" "2015-09-06 14:37:59" "" "" "SEQ" "DNA" "" "" "0000104406" "00103948" "1" "00006" "00006" "2017-04-23 15:47:16" "" "" "SEQ" "DNA" "" "" "0000107004" "00106535" "1" "01850" "01850" "2017-07-04 18:59:07" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000107005" "00106536" "1" "01850" "01850" "2017-07-04 19:22:04" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000117677" "00117222" "1" "00751" "00751" "2017-08-14 18:07:49" "" "" "SEQ" "DNA" "blood" "" "0000117678" "00117223" "1" "00751" "00751" "2017-08-14 18:29:57" "" "" "SEQ" "DNA" "blood" "" "0000117679" "00117224" "1" "00751" "00751" "2017-08-14 18:39:46" "" "" "SEQ" "DNA" "blood" "" "0000117680" "00117225" "1" "00751" "00751" "2017-08-14 19:13:50" "" "" "SEQ" "DNA" "blood" "" "0000413240" "00411968" "1" "00006" "00006" "2022-06-20 13:19:24" "" "" "SEQ;SEQ-NG" "DNA" "" "56-gene panel" "0000461907" "00460276" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000018397" "CASQ1" "0000048938" "CASQ1" "0000048939" "CASQ1" "0000048940" "CASQ1" "0000048941" "CASQ1" "0000048942" "CASQ1" "0000048977" "CASQ1" "0000048978" "CASQ1" "0000104406" "CASQ1" "0000117677" "CASQ1" "0000117678" "CASQ1" "0000117679" "CASQ1" "0000117680" "CASQ1" ## 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 = 33 "{{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}}" "0000038846" "1" "90" "1" "160165766" "160165766" "subst" "0" "00751" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "" "Germline" "yes" "rs730882052" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077793" "1" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "not in 800 control chromosomes" "Germline" "yes" "rs730882052" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077794" "1" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "" "Germline" "yes" "rs730882052" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077795" "1" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "" "Germline" "yes" "rs730882052" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077796" "0" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "" "Germline" "-" "rs730882052" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077797" "0" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Rossi 2014:25116801}, {DOI:Rossi 2014:10.1002/humu.22631}, {OMIM114250:0001}" "" "" "cDNA-GFP expression cloning COS-7 cells shows markedly reduced ability in forming elongated polymers and formation of electron-dense SR vacuoles containing CASQ1 protein aggregates" "In vitro (cloned)" "-" "rs730882052" "0" "" "" "g.160195976A>G" "" "NA" "" "0000077798" "1" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}, {OMIM114250:0001}" "" "" "not in 400 control chromosomes" "Germline" "yes" "" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077833" "21" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}, {OMIM114250:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000077834" "11" "90" "1" "160165766" "160165766" "subst" "0" "00006" "CASQ1_000001" "g.160165766A>G" "" "{PMID:Di Blasi 2015:26136523}, {DOI:Di Blasi 2015:10.1136/jmedgenet-2014-102882}, {OMIM114250:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.160195976A>G" "" "pathogenic" "" "0000169131" "1" "30" "1" "160160801" "160160801" "subst" "0.0208156" "00006" "CASQ1_000002" "g.160160801T>C" "16/205 cases MH" "{PMID:Kraeva 2013:23460944}, {DOI:Kraeva 2013:10.1097/ALN.0b013e318279f925}" "" "" "allele frequency not significantly different cases/controls" "Germline" "" "" "0" "" "" "g.160191011T>C" "" "likely benign" "" "0000172743" "1" "90" "1" "160160707" "160160707" "subst" "0" "01850" "CASQ1_000003" "g.160160707A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.160190917A>T" "" "pathogenic" "" "0000172744" "0" "90" "1" "160162620" "160162620" "subst" "0" "01850" "CASQ1_000004" "g.160162620G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.160192830G>A" "" "pathogenic" "" "0000188645" "0" "70" "1" "160160671" "160160671" "subst" "0.00201425" "00751" "CASQ1_000005" "g.160160671G>A" "" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "De novo" "" "" "0" "" "" "g.160190881G>A" "" "likely pathogenic" "" "0000188646" "0" "90" "1" "160162620" "160162620" "subst" "0" "00751" "CASQ1_000004" "g.160162620G>A" "" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "De novo" "" "" "0" "" "" "g.160192830G>A" "" "pathogenic" "" "0000188647" "0" "90" "1" "160162620" "160162620" "subst" "0" "00751" "CASQ1_000004" "g.160162620G>A" "" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "De novo" "" "" "0" "" "" "g.160192830G>A" "" "pathogenic" "" "0000188648" "0" "90" "1" "160171129" "160171129" "subst" "6.50618E-5" "00751" "CASQ1_000006" "g.160171129T>C" "" "{PMID:Barone 2017:28895244}, {DOI:Barone 2017:10.1002/humu.23338}" "" "" "" "De novo" "" "" "0" "" "" "g.160201339T>C" "" "pathogenic" "" "0000321087" "0" "50" "1" "160160791" "160160791" "subst" "0" "01804" "CASQ1_000007" "g.160160791C>T" "" "" "" "CASQ1(NM_001231.4):c.250C>T (p.(Gln84Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160191001C>T" "" "VUS" "" "0000604936" "0" "30" "1" "160164910" "160164910" "subst" "8.76102E-5" "02326" "CASQ1_000008" "g.160164910G>C" "" "" "" "CASQ1(NM_001231.5):c.574G>C (p.E192Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160195120G>C" "" "likely benign" "" "0000653791" "0" "50" "1" "160163620" "160163620" "subst" "4.07355E-6" "02325" "CASQ1_000009" "g.160163620G>T" "" "" "" "CASQ1(NM_001231.5):c.448G>T (p.V150L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160193830G>T" "" "VUS" "" "0000798866" "0" "30" "1" "160171018" "160171018" "subst" "0.00105042" "02326" "CASQ1_000010" "g.160171018C>A" "" "" "" "CASQ1(NM_001231.5):c.1060-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848354" "0" "30" "1" "160160767" "160160767" "subst" "0.000670994" "02325" "ATP1A4_000007" "g.160160767G>A" "" "" "" "CASQ1(NM_001231.5):c.226G>A (p.E76K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857097" "0" "30" "1" "160162694" "160162694" "subst" "0" "02326" "CASQ1_000011" "g.160162694A>T" "" "" "" "CASQ1(NM_001231.5):c.364+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857098" "0" "50" "1" "160165254" "160165254" "subst" "8.12196E-6" "01804" "CASQ1_000012" "g.160165254A>G" "" "" "" "CASQ1(NM_001231.4):c.581A>G (p.(Tyr194Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870666" "1" "90" "1" "160162591" "160162591" "subst" "0.000914433" "00006" "CASQ1_000013" "g.160162591G>C" "" "{PMID:Brugnoni 2022:33573884}, {DOI:Brugnoni 2022:10.1016/j.nmd.2020.12.003}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.160192801G>C" "" "pathogenic" "ACMG" "0000910822" "0" "10" "1" "160160756" "160160756" "subst" "0.00326773" "02325" "ATP1A4_000008" "g.160160756A>G" "" "" "" "CASQ1(NM_001231.5):c.215A>G (p.H72R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910823" "0" "50" "1" "160160806" "160160806" "subst" "0" "02327" "ATP1A4_000009" "g.160160806G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922988" "0" "30" "1" "160163625" "160163625" "subst" "6.51742E-5" "02326" "CASQ1_000014" "g.160163625G>A" "" "" "" "CASQ1(NM_001231.5):c.453G>A (p.E151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922989" "0" "30" "1" "160168540" "160168540" "subst" "8.12381E-6" "02326" "CASQ1_000015" "g.160168540G>A" "" "" "" "CASQ1(NM_001231.5):c.883+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928048" "0" "30" "1" "160160801" "160160801" "subst" "0.0208156" "01804" "CASQ1_000002" "g.160160801T>C" "" "" "" "CASQ1(NM_001231.4):c.260T>C (p.(Met87Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989374" "0" "70" "1" "160165766" "160165766" "subst" "0" "03779" "CASQ1_000001" "g.160165766A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs730882052" "0" "" "" "" "" "likely pathogenic" "" "0000990472" "0" "50" "1" "160156152" "160156152" "subst" "0.000265621" "01804" "ATP1A4_000012" "g.160156152C>T" "" "" "" "ATP1A4(NM_144699.3):c.3056C>T (p.(Pro1019Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021267" "0" "50" "1" "160168504" "160168504" "subst" "8.12222E-6" "00006" "CASQ1_000016" "g.160168504C>T" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.160198714C>T" "" "VUS" "" "0001031401" "0" "30" "1" "160160671" "160160671" "subst" "0.00201425" "01804" "CASQ1_000005" "g.160160671G>A" "" "" "" "CASQ1(NM_001231.5):c.130G>A (p.(Asp44Asn))" "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 CASQ1 ## Count = 33 "{{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}}" "0000038846" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077793" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077794" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077795" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077796" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077797" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.Asp244Gly" "6" "0000077798" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.731a>g" "p.Asp244Gly" "6" "0000077833" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000077834" "00004391" "90" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "6" "0000169131" "00004391" "30" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Met87Thr)" "1" "0000172743" "00004391" "90" "166" "0" "166" "0" "c.166A>T" "r.(?)" "p.(Asn56Tyr)" "1" "0000172744" "00004391" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Asp)" "6" "0000188645" "00004391" "70" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Asp44Asn)" "1" "0000188646" "00004391" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Asp)" "2" "0000188647" "00004391" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Asp)" "2" "0000188648" "00004391" "90" "1154" "0" "1154" "0" "c.1154T>C" "r.(?)" "p.(Ile385Thr)" "11" "0000321087" "00004391" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Gln84Ter)" "" "0000604936" "00004391" "30" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Glu192Gln)" "" "0000653791" "00004391" "50" "448" "0" "448" "0" "c.448G>T" "r.(?)" "p.(Val150Leu)" "" "0000798866" "00004391" "30" "1060" "-17" "1060" "-17" "c.1060-17C>A" "r.(=)" "p.(=)" "" "0000848354" "00004391" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "" "0000857097" "00004391" "30" "364" "18" "364" "18" "c.364+18A>T" "r.(=)" "p.(=)" "" "0000857098" "00004391" "50" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Tyr194Cys)" "" "0000870666" "00004391" "90" "280" "-1" "280" "-1" "c.280-1G>C" "r.spl" "p.?" "" "0000910822" "00004391" "10" "215" "0" "215" "0" "c.215A>G" "r.(?)" "p.(His72Arg)" "" "0000910823" "00004391" "50" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Glu89Lys)" "" "0000922988" "00004391" "30" "453" "0" "453" "0" "c.453G>A" "r.(?)" "p.(Glu151=)" "" "0000922989" "00004391" "30" "883" "19" "883" "19" "c.883+19G>A" "r.(=)" "p.(=)" "" "0000928048" "00004391" "30" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Met87Thr)" "" "0000989374" "00004391" "70" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(Asp244Gly)" "" "0000990472" "00004391" "50" "-4390" "0" "-4390" "0" "c.-4390C>T" "r.(?)" "p.(=)" "" "0001021267" "00004391" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Ala289Val)" "" "0001031401" "00004391" "30" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Asp44Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000018397" "0000038846" "0000048938" "0000077793" "0000048939" "0000077794" "0000048940" "0000077795" "0000048941" "0000077796" "0000048942" "0000077798" "0000048977" "0000077833" "0000048978" "0000077834" "0000104406" "0000169131" "0000107004" "0000172743" "0000107005" "0000172744" "0000117677" "0000188645" "0000117678" "0000188646" "0000117679" "0000188647" "0000117680" "0000188648" "0000413240" "0000870666" "0000461907" "0001021267"