### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ORAI1) # 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}}" "ORAI1" "ORAI calcium release-activated calcium modulator 1" "12" "q24.31" "unknown" "LRG_93" "UD_132119134579" "" "https://www.LOVD.nl/ORAI1" "" "1" "25896" "84876" "610277" "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/ORAI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-16 09:57:47" "00006" "2025-08-01 14:08:05" ## 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}}" "00015458" "ORAI1" "ORAI calcium release-activated calcium modulator 1" "001" "NM_032790.3" "" "NP_116179.2" "" "" "" "-193" "1309" "912" "122064455" "122079946" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "03054" "Kawasaki" "Kawasaki disease, susceptibility to" "" "611775" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-12-16 14:07:44" "03189" "IMD9" "Immunodeficiency, type 9" "AR" "612782" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04119" "TAM2" "myopathy, tubular aggregates, type 2" "AD" "615883" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-08-01 14:05:35" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ORAI1" "03189" "ORAI1" "04119" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00029007" "" "" "" "2" "" "00006" "{PMID:Endo 2015:25227914}" "3-generation family, 2 affecteds (mother and son)" "" "no" "Japan" "" "0" "" "" "" "" "00029008" "" "" "" "3" "" "00006" "{PMID:Endo 2015:25227914}" "2-generation family, 3 affecteds (mother, son, daugther" "" "no" "Japan" "" "0" "" "" "" "" "00029009" "" "" "" "1" "" "00006" "{PMID:Endo 2015:25227914}" "2-generation family, 1 affected" "M" "no" "Japan" "" "0" "" "" "" "" "00029010" "" "" "" "10" "" "00006" "{PMID:Nesin 2014:24591628}, {PMID:Shahrizaila 2004:15452313}" "6-generation family, 10 affecteds (5F, 5M)" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00091697" "" "" "" "1" "" "01850" "" "" "M" "no" "Honduras" "" "0" "" "" "" "" "00091698" "" "" "" "1" "" "01850" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00091699" "" "" "" "1" "" "01850" "" "" "M" "no" "Italy" "" "0" "" "" "" "" "00092209" "" "" "" "4" "" "00006" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "2414 controls" "" "" "Japan" "" "0" "" "" "" "" "00092210" "" "" "" "2410" "" "00006" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "2414 controls" "" "" "Japan" "" "0" "" "" "" "" "00092211" "" "" "" "16" "" "00006" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "2544 Kawasaki Disease cases" "" "" "Japan" "" "0" "" "" "" "" "00092212" "" "" "" "64" "" "00006" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "1813 Kawasaki disease cases" "" "" "Japan" "" "0" "" "" "" "" "00092213" "" "" "" "26" "" "00006" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "1097 controls" "" "" "Japan" "" "0" "" "" "" "" "00451485" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "294869" "00466073" "" "" "" "1" "" "04614" "" "" "M" "no" "Spain" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00029007" "04119" "00029008" "04119" "00029009" "04119" "00029010" "04119" "00091697" "04119" "00091698" "04119" "00091699" "04119" "00092209" "00000" "00092210" "00000" "00092211" "03054" "00092212" "03054" "00092213" "00000" "00451485" "04119" "00466073" "04119" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 03054, 03189, 04119 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000025028" "04119" "00029007" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "0000025029" "04119" "00029008" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "0000025030" "04119" "00029009" "00006" "Isolated (sporadic)" "" "see paper; .." "" "" "" "" "" "" "" "" "" "0000025031" "04119" "00029010" "00006" "Familial, autosomal dominant" "" "see paper; .." "" "" "" "" "" "" "" "" "" "0000070158" "04119" "00091697" "01850" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000070159" "04119" "00091698" "01850" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000070160" "04119" "00091699" "01850" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000070541" "03054" "00092211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000070542" "03054" "00092212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000340203" "04119" "00451485" "01164" "Unknown" "23y" "Muscular dystrophy, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Muscle weakness, Exercise-induced muscle fatigue" "" "" "" "" "" "" "" "" "" "0000351459" "04119" "00466073" "04614" "Unknown" "24y" "Miosis, Rigid spine, Muscle weakness, Tubular aggregates in muscular biopsy, Increased serum creatine kinase. Reference: 25227914, 36806330, 29184031." "08y" "24y" "Chilhood onset" "elenagarciapayahgua" "" "" "" "MYOPATHY, TUBULAR AGGREGATE, 2; TAM2" "Myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029048" "00029007" "1" "00006" "00006" "2015-01-18 10:16:12" "00006" "2015-01-18 10:22:13" "SEQ;SEQ-NG" "DNA" "" "" "0000029049" "00029008" "1" "00006" "00006" "2015-01-18 10:24:35" "00006" "2015-01-18 10:33:37" "SEQ;SEQ-NG" "DNA" "" "" "0000029050" "00029009" "1" "00006" "00006" "2015-01-18 10:27:37" "" "" "SEQ" "DNA" "" "" "0000029051" "00029010" "1" "00006" "00006" "2015-01-18 10:45:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000091839" "00091697" "1" "01850" "01850" "2016-12-14 14:54:19" "" "" "SEQ-NG" "DNA" "" "" "0000091840" "00091698" "1" "01850" "01850" "2016-12-14 15:08:10" "" "" "SEQ-NG" "DNA" "" "" "0000091841" "00091699" "1" "01850" "01850" "2016-12-14 15:14:10" "" "" "PCR" "DNA" "" "" "0000092350" "00092209" "1" "00006" "00006" "2016-12-16 13:54:58" "00006" "2016-12-16 14:02:02" "Invader" "DNA" "" "" "0000092351" "00092210" "1" "00006" "00006" "2016-12-16 14:03:07" "" "" "Invader" "DNA" "" "" "0000092352" "00092211" "1" "00006" "00006" "2016-12-16 14:09:12" "" "" "Invader" "DNA" "" "" "0000092353" "00092212" "1" "00006" "00006" "2016-12-16 14:14:46" "" "" "Invader" "DNA" "" "" "0000092354" "00092213" "1" "00006" "00006" "2016-12-16 14:19:30" "" "" "Invader" "DNA" "" "" "0000453086" "00451485" "1" "01164" "01164" "2024-06-07 15:00:06" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000467730" "00466073" "1" "04614" "04614" "2025-07-29 10:31:29" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000029048" "ORAI1" "0000029049" "ORAI1" "0000029050" "ORAI1" "0000029051" "ORAI1" "0000091839" "ORAI1" "0000091840" "ORAI1" "0000091841" "ORAI1" "0000092350" "ORAI1" "0000092351" "ORAI1" "0000092352" "ORAI1" "0000092353" "ORAI1" "0000092354" "ORAI1" "0000453086" "ORAI1" ## 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 = 44 "{{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}}" "0000052397" "1" "90" "12" "122064945" "122064945" "subst" "0" "00006" "ORAI1_000001" "g.122064945G>A" "" "{PMID:Endo 2015:25227914}" "" "292G>A (Gly98Ser)" "de novo in mother; functional studies performed\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000052398" "21" "90" "12" "122064945" "122064945" "subst" "0" "00006" "ORAI1_000001" "g.122064945G>A" "" "{PMID:Endo 2015:25227914}" "" "292G>A (Gly98Ser)" "inheritance in mother unknown\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000052399" "0" "90" "12" "122079055" "122079055" "subst" "0" "00006" "ORAI1_000002" "g.122079055C>T" "" "{PMID:Endo 2015:25227914}" "" "412C>T (Leu138Phe)" "functional analysis variant" "Unknown" "" "" "0" "" "" "g.121641149C>T" "" "pathogenic" "" "0000052400" "1" "90" "12" "122079377" "122079377" "subst" "0" "00006" "ORAI1_000003" "g.122079377C>T" "" "{PMID:Nesin 2014:24591628}, {OMIM610277:0002}" "" "734C>T (Pro244Leu)" "functional analysis variant\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "yes" "rs587777528" "0" "" "" "" "" "pathogenic" "" "0000150010" "0" "90" "12" "122064945" "122064945" "subst" "0" "01850" "ORAI1_000001" "g.122064945G>A" "" "" "" "292G>A" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000150014" "21" "90" "12" "122078962" "122078962" "subst" "0" "01850" "ORAI1_000004" "g.122078962G>A" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000150017" "20" "90" "12" "122079194" "122079194" "subst" "4.0827E-6" "01850" "ORAI1_000005" "g.122079194C>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000150624" "1" "50" "12" "122064785" "122064790" "del" "0" "00006" "ORAI1_000006" "g.122064785_122064790del" "4/2414 controls" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "" "WT" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs141919534" "0" "" "" "" "" "VUS" "" "0000150625" "3" "50" "12" "122064785" "122064790" "del" "0" "00006" "ORAI1_000006" "g.122064785_122064790del" "2410/2414 controls" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "" "WT" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs141919534" "0" "" "" "" "" "VUS" "" "0000150626" "1" "70" "12" "122064785" "122064790" "del" "0" "00006" "ORAI1_000006" "g.122064785_122064790del" "16/2544 cases" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "" "WT" "associates with Kawasaki disease (OR 3.80, P 0.012);\r\nNOTE: 2528 cases homozygous for this variant\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs141919534" "0" "" "" "" "" "likely pathogenic" "" "0000150627" "3" "70" "12" "122079295" "122079295" "subst" "0.0164613" "00006" "ORAI1_000007" "g.122079295A>G" "64/1813 cases" "{PMID:Onouchi 2016:26789410}, {DOI:Onouchi 2016:10.1371/journal.pone.0145486}" "" "A>G (Ser218Gly)" "associated with Kawasaki disease (OR 1.21, P 0.00041); 577/1813 heterozygotes\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs3741596" "0" "" "" "" "" "likely pathogenic" "" "0000150628" "3" "50" "12" "122079295" "122079295" "subst" "0.0164613" "00006" "ORAI1_000007" "g.122079295A>G" "26/1097 controls" "" "" "A>G (Ser218Gly)" "311/1097 heterozygots\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs3741596" "0" "" "" "" "" "VUS" "" "0000296690" "0" "10" "12" "122079441" "122079441" "subst" "0.468953" "02325" "ORAI1_000008" "g.122079441T>C" "" "" "" "ORAI1(NM_032790.3):c.798T>C (p.T266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121641535T>C" "" "benign" "" "0000546887" "0" "30" "12" "122064747" "122064747" "subst" "0.000523997" "01943" "ORAI1_000010" "g.122064747A>C" "" "" "" "ORAI1(NM_032790.3):c.100A>C (p.S34R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626842A>C" "" "likely benign" "" "0000546888" "0" "30" "12" "122064768" "122064768" "subst" "0.00347479" "01943" "ORAI1_000011" "g.122064768G>A" "" "" "" "ORAI1(NM_032790.3):c.121G>A (p.G41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626863G>A" "" "likely benign" "" "0000546889" "0" "30" "12" "122064778" "122064779" "ins" "0" "01943" "ORAI1_000012" "g.122064778_122064779insGCCGC" "" "" "" "ORAI1(NM_032790.3):c.131_132insGCCGC (p.P46Hfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626872_121626873insGCCGC" "" "likely benign" "" "0000546892" "0" "10" "12" "122064785" "122064790" "del" "0" "02325" "ORAI1_000006" "g.122064785_122064790del" "" "" "" "ORAI1(NM_032790.3):c.132_137delACCGCC (p.P46_P47del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626879_121626884del" "" "benign" "" "0000546895" "0" "50" "12" "122079116" "122079116" "subst" "2.43877E-5" "01943" "ORAI1_000016" "g.122079116A>G" "" "" "" "ORAI1(NM_032790.3):c.473A>G (p.N158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121641210A>G" "" "VUS" "" "0000613912" "0" "50" "12" "122064732" "122064746" "dup" "0" "01943" "ORAI1_000017" "g.122064732_122064746dup" "" "" "" "ORAI1(NM_032790.3):c.85_99dupCGGAGCCGCCGCCGC (p.R29_R33dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626827_121626841dup" "" "VUS" "" "0000613913" "0" "50" "12" "122064837" "122064837" "subst" "4.17872E-6" "01943" "ORAI1_000018" "g.122064837G>T" "" "" "" "ORAI1(NM_032790.3):c.184G>T (p.E62*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121626931G>T" "" "VUS" "" "0000723876" "0" "30" "12" "122064679" "122064679" "subst" "0" "01943" "ORAI1_000019" "g.122064679G>A" "" "" "" "ORAI1(NM_032790.3):c.32G>A (p.R11H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723877" "0" "50" "12" "122064747" "122064747" "subst" "0.000523997" "02329" "ORAI1_000010" "g.122064747A>C" "" "" "" "ORAI1(NM_032790.3):c.100A>C (p.S34R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723878" "0" "30" "12" "122064785" "122064785" "subst" "0.00461336" "01943" "ORAI1_000013" "g.122064785A>G" "" "" "" "ORAI1(NM_032790.3):c.132A>G (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723879" "0" "30" "12" "122064788" "122064789" "ins" "0.0044976" "01943" "ORAI1_000014" "g.122064788_122064789insT" "" "" "" "ORAI1(NM_032790.3):c.135_136insT (p.P46Sfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723880" "0" "30" "12" "122079311" "122079311" "subst" "0.000424195" "01943" "ORAI1_000020" "g.122079311A>G" "" "" "" "ORAI1(NM_032790.3):c.668A>G (p.N223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805562" "0" "50" "12" "122064760" "122064768" "del" "0" "01943" "ORAI1_000021" "g.122064760_122064768del" "" "" "" "ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805563" "0" "50" "12" "122079111" "122079111" "subst" "0" "01943" "ORAI1_000022" "g.122079111T>A" "" "" "" "ORAI1(NM_032790.3):c.468T>A (p.N156K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853287" "0" "30" "12" "122079051" "122079051" "subst" "8.13326E-6" "01943" "ORAI1_000023" "g.122079051T>C" "" "" "" "ORAI1(NM_032790.3):c.408T>C (p.F136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862882" "0" "50" "12" "122079355" "122079355" "subst" "4.07727E-6" "02325" "ORAI1_000024" "g.122079355G>A" "" "" "" "ORAI1(NM_032790.3):c.712G>A (p.A238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890333" "0" "50" "12" "122064760" "122064768" "del" "0" "02325" "ORAI1_000021" "g.122064760_122064768del" "" "" "" "ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890334" "0" "50" "12" "122064760" "122064768" "del" "0" "02326" "ORAI1_000021" "g.122064760_122064768del" "" "" "" "ORAI1(NM_032790.3):c.113_121delAGCCCCCGG (p.E38_P40del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890335" "0" "50" "12" "122079160" "122079160" "subst" "5.70093E-5" "02329" "ORAI1_000025" "g.122079160G>A" "" "" "" "ORAI1(NM_032790.3):c.517G>A (p.E173K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890336" "0" "30" "12" "122079311" "122079311" "subst" "0.000424195" "02326" "ORAI1_000020" "g.122079311A>G" "" "" "" "ORAI1(NM_032790.3):c.668A>G (p.N223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890337" "0" "50" "12" "122079527" "122079527" "subst" "6.66445E-5" "02325" "ORAI1_000026" "g.122079527C>T" "" "" "" "ORAI1(NM_032790.3):c.884C>T (p.T295M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913776" "0" "30" "12" "122064834" "122064834" "subst" "1.67154E-5" "02326" "ORAI1_000027" "g.122064834T>C" "" "" "" "ORAI1(NM_032790.3):c.181T>C (p.S61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925555" "0" "30" "12" "122064659" "122064659" "subst" "0" "02326" "ORAI1_000009" "g.122064659G>T" "" "" "" "ORAI1(NM_032790.3):c.12G>T (p.E4D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925556" "0" "30" "12" "122079291" "122079291" "subst" "0" "02326" "ORAI1_000028" "g.122079291C>T" "" "" "" "ORAI1(NM_032790.3):c.648C>T (p.P216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966756" "0" "50" "12" "122064855" "122064855" "subst" "0" "02327" "ORAI1_000029" "g.122064855G>T" "" "" "" "ORAI1(NM_032790.3):c.202G>T (p.(Glu68*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987599" "0" "70" "12" "122078956" "122078956" "subst" "0" "01164" "ORAI1_000030" "g.122078956G>A" "" "PMID: 28058752, 30382595" "" "" "ACMG: PS3_MOD, PS4_MOD, PM2_SUP, PP1" "Germline" "?" "" "" "" "" "g.121641056G>A" "VCV001069742.5" "likely pathogenic (dominant)" "ACMG" "0000999762" "0" "30" "12" "122064795" "122064795" "dup" "0" "01804" "ORAI1_000031" "g.122064795dup" "" "" "" "ORAI1(NM_032790.3):c.141_142insT (p.(Pro48fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999763" "0" "50" "12" "122064834" "122064834" "subst" "1.67154E-5" "02325" "ORAI1_000027" "g.122064834T>C" "" "" "" "ORAI1(NM_032790.3):c.181T>C (p.S61P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039011" "0" "30" "12" "122064788" "122064789" "ins" "0.0044976" "02327" "ORAI1_000014" "g.122064788_122064789insT" "" "" "" "ORAI1(NM_032790.3):c.135_136insT (p.P46Sfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039012" "0" "50" "12" "122064855" "122064855" "subst" "0" "01804" "ORAI1_000029" "g.122064855G>T" "" "" "" "ORAI1(NM_032790.3):c.202G>T (p.(Glu68*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047028" "0" "90" "12" "122079055" "122079055" "subst" "0" "04614" "ORAI1_000002" "g.122079055C>T" "" "" "" "" "" "De novo" "-" "rs786204797" "0" "" "" "g.121641149C>T" "" "pathogenic (dominant)" "ACMG" ## 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 ORAI1 ## Count = 44 "{{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}}" "0000052397" "00015458" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "1" "0000052398" "00015458" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "1" "0000052399" "00015458" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138Phe)" "2" "0000052400" "00015458" "90" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "2" "0000150010" "00015458" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Gly100Ser)" "1" "0000150014" "00015458" "90" "325" "0" "325" "0" "c.325G>A" "r.(?)" "p.(Val109Met)" "2" "0000150017" "00015458" "90" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Thr186Met)" "2" "0000150624" "00015458" "50" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Pro48_Pro49del)" "1" "0000150625" "00015458" "50" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Pro48_Pro49del)" "1" "0000150626" "00015458" "70" "138" "0" "143" "0" "c.138_143del" "r.(?)" "p.(Pro48_Pro49del)" "1" "0000150627" "00015458" "70" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ser220Gly)" "2" "0000150628" "00015458" "50" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ser220Gly)" "2" "0000296690" "00015458" "10" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(Thr266=)" "" "0000546887" "00015458" "30" "100" "0" "100" "0" "c.100A>C" "r.(?)" "p.(Ser34Arg)" "" "0000546888" "00015458" "30" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Gly41Arg)" "" "0000546889" "00015458" "30" "131" "0" "132" "0" "c.131_132insGCCGCACCGCC" "r.(?)" "p.(Pro46HisfsTer22)" "" "0000546892" "00015458" "10" "126" "0" "127" "0" "c.126_127=" "r.(=)" "p.(Ala42=)" "" "0000546895" "00015458" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Asn158Ser)" "" "0000613912" "00015458" "50" "85" "0" "99" "0" "c.85_99dup" "r.(?)" "p.(Arg29_Arg33dup)" "" "0000613913" "00015458" "50" "184" "0" "184" "0" "c.184G>T" "r.(?)" "p.(Glu62Ter)" "" "0000723876" "00015458" "30" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" "" "0000723877" "00015458" "50" "100" "0" "100" "0" "c.100A>C" "r.(?)" "p.(Ser34Arg)" "" "0000723878" "00015458" "30" "132" "0" "132" "0" "c.132A>G" "r.(?)" "p.(Pro44=)" "" "0000723879" "00015458" "30" "135" "0" "136" "0" "c.135_136insT" "r.(?)" "p.(Pro46SerfsTer42)" "" "0000723880" "00015458" "30" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Asn223Ser)" "" "0000805562" "00015458" "50" "113" "0" "121" "0" "c.113_121del" "r.(?)" "p.(Glu38_Pro40del)" "" "0000805563" "00015458" "50" "468" "0" "468" "0" "c.468T>A" "r.(?)" "p.(Asn156Lys)" "" "0000853287" "00015458" "30" "408" "0" "408" "0" "c.408T>C" "r.(?)" "p.(Phe136=)" "" "0000862882" "00015458" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Ala238Thr)" "" "0000890333" "00015458" "50" "113" "0" "121" "0" "c.113_121del" "r.(?)" "p.(Glu38_Pro40del)" "" "0000890334" "00015458" "50" "113" "0" "121" "0" "c.113_121del" "r.(?)" "p.(Glu38_Pro40del)" "" "0000890335" "00015458" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Glu173Lys)" "" "0000890336" "00015458" "30" "668" "0" "668" "0" "c.668A>G" "r.(?)" "p.(Asn223Ser)" "" "0000890337" "00015458" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Thr295Met)" "" "0000913776" "00015458" "30" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" "" "0000925555" "00015458" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Glu4Asp)" "" "0000925556" "00015458" "30" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Pro216=)" "" "0000966756" "00015458" "50" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Glu68*)" "" "0000987599" "00015458" "70" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Met)" "" "0000999762" "00015458" "30" "142" "0" "142" "0" "c.142dup" "r.(?)" "p.(Ser48Phefs*40)" "" "0000999763" "00015458" "50" "181" "0" "181" "0" "c.181T>C" "r.(?)" "p.(Ser61Pro)" "" "0001039011" "00015458" "30" "135" "0" "136" "0" "c.135_136insT" "r.(?)" "p.(Pro46SerfsTer42)" "" "0001039012" "00015458" "50" "202" "0" "202" "0" "c.202G>T" "r.(?)" "p.(Glu68*)" "" "0001047028" "00015458" "90" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Leu138Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000029048" "0000052397" "0000029049" "0000052398" "0000029050" "0000052399" "0000029051" "0000052400" "0000091839" "0000150010" "0000091840" "0000150014" "0000091841" "0000150017" "0000092350" "0000150624" "0000092351" "0000150625" "0000092352" "0000150626" "0000092353" "0000150627" "0000092354" "0000150628" "0000453086" "0000987599" "0000467730" "0001047028"