### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STIM1) # 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}}" "STIM1" "stromal interaction molecule 1" "11" "p15.5" "unknown" "LRG_164" "UD_132118650166" "" "https://www.LOVD.nl/STIM1" "" "1" "11386" "6786" "605921" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/STIM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-10-12 16:18:33" "01850" "2025-09-01 10:41:59" ## 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}}" "00025469" "STIM1" "transcript variant 1" "001" "NM_001277961.1" "" "NP_001264890.1" "" "" "" "-568" "3788" "2376" "3876933" "4114440" "00006" "2019-10-12 16:17:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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" "03190" "IMD10" "Immunodeficiency, type 10 (IMD-10)" "AR" "612783" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04171" "STRMK" "Stormorken syndrome (STRMK)" "AD" "185070" "" "" "" "00006" "2015-01-18 10:53:36" "00006" "2021-12-10 21:51:32" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "STIM1" "01456" "STIM1" "03190" "STIM1" "04171" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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" "" "" "" "" "00029011" "" "" "" "1" "" "00006" "{PMID:Nesin 2014:24591628}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "" "" "00029012" "" "" "" "1" "" "00006" "{PMID:Nesin 2014:24591628}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "" "00234377" "" "" "" "1" "" "01850" "" "" "M" "no" "France" "" "0" "" "" "" "" "00234378" "" "" "" "1" "" "01850" "" "" "F" "?" "Italy" "" "0" "" "" "" "" "00234379" "" "" "" "1" "" "01850" "" "" "F" "yes" "Eritrea" "" "0" "" "" "" "" "00266102" "" "" "" "3" "" "00006" "{PMID:Picard 2009:19420366}" "5-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "France" "9y" "0" "" "" "" "FamPatV1" "00266104" "" "" "00266102" "1" "" "00006" "{PMID:Picard 2009:19420366}" "" "M" "yes" "France" "" "0" "" "" "" "FamPatV7" "00266105" "" "" "" "1" "" "00006" "{PMID:Byun 2010:20876309}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Turkey" "2y4m" "0" "" "" "" "FamPatIV2" "00266381" "" "" "" "1" "" "01850" "{PMID:Morin 2019:31448844}" "" "M" "no" "France" "" "0" "" "" "" "1.II.2" "00266385" "" "" "" "1" "" "01850" "{PMID:Bohm 2014:25326555}" "" "M" "yes" "Italy" "" "0" "" "" "" "" "00269322" "" "" "" "1" "" "01850" "{PMID:Walter 2015:25953320}" "" "M" "no" "Germany" "" "0" "" "" "" "I.1" "00271177" "" "" "" "1" "" "01850" "{PMID:Böhm 2013:23332920}" "" "M" "no" "" "" "0" "" "" "" "Fam1PatII1" "00271178" "" "" "" "1" "" "01850" "{PMID:Noury 2017:27876257}" "" "F" "no" "Portugal" "" "0" "" "" "" "" "00287377" "" "" "" "1" "" "03564" "" "" "F" "?" "Belgium" "20y" "0" "" "" "" "" "00290391" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290392" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290393" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00466395" "" "" "" "1" "" "04653" "Pending" "" "F" "" "France" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00029011" "04171" "00029012" "04171" "00234377" "01456" "00234378" "01456" "00234379" "01456" "00266102" "05292" "00266104" "05292" "00266105" "05292" "00266381" "01456" "00266385" "01456" "00269322" "01456" "00271177" "01456" "00271178" "01456" "00287377" "05126" "00290391" "00198" "00290392" "00198" "00290393" "00198" "00466395" "01456" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01456, 03190, 04171, 05126, 05292 ## Count = 14 "{{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}}" "0000025032" "04171" "00029011" "00006" "Isolated (sporadic)" "" "see paper; congenital miosis, bleeding diathesis, thrombocytopenia, proximal muscle weakness" "" "" "" "" "" "" "" "" "" "" "" "0000025033" "04171" "00029012" "00006" "Unknown" "" "see paper; congenital miosis, bleeding diathesis, thrombocytopenia, proximal muscle weakness" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000203882" "05292" "00266102" "00006" "Familial, autosomal recessive" "" "infection with Escherichia coli and Streptococcus pneu-moniae resulting in sepsis, urinary tract infections, pneumonia, infection with CMV and VZV; hemolytic anemia, thrombocytopenia; lymphadenopathy, hepatosplenomegaly; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel; 9y-died from hematopoietic stem-cell transplantation complications" "" "" "" "" "" "" "" "" "IMD-10" "immunodeficiency" "" "0000203884" "05292" "00266104" "00006" "Familial, autosomal recessive" "" "undocumented sepsis, treatment with IV immune globulin since birth; thrombocytopenia; no lymphoproliferative disorder; muscular hypotonia, partial iris hypoplasia, abnormal dental enamel, hypoglycemia; 15m-hematopoietic stem-cell transplantation, currently alive and well with muscular hypotonia" "" "" "" "" "" "" "" "" "IMD-10" "immunodeficiency" "" "0000203885" "05292" "00266105" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "IMD-10" "immunodeficiency" "" "0000204150" "01456" "00266381" "01850" "Familial, autosomal dominant" "" "Axial muscle weakness, myalgia, diabetes, hypertension, lipodystrophy, coronary artery disease. Muscle biopsy: tubular aggregates, fiber size variability, type I fiber predominance, internal nuclei" "" "" "" "" "" "" "" "" "TAM-1" "" "" "0000204154" "01456" "00266385" "01850" "Isolated (sporadic)" "" "Lower limb weakness, myalgia, eye movement defects. Muscle biopsy: tubular aggregates, fiber size variability, internal nuclei, fibrosis" "" "" "" "" "" "" "" "" "TAM-1" "" "" "0000207153" "01456" "00269322" "01850" "Familial, autosomal dominant" "" "" "<04y" "" "" "" "" "" "" "" "" "" "" "0000207793" "01456" "00271177" "01850" "Familial, autosomal dominant" "" "Upper and lower limb muscle weakness, eye movement defects, contractures" "" "" "Childhood" "" "" "" "" "" "" "" "" "0000207794" "01456" "00271178" "01850" "Isolated (sporadic)" "" "Lower limb muscle weakness, cramps, eye movement defects, contractures, asplenia, short stature, hypocalcemia, anemia, tooth enamel hypocalcification," "<10y" "" "" "" "" "" "" "" "" "" "" "0000221979" "05126" "00287377" "03564" "Unknown" "19y" "psoas weakness, pelvic girdle weakness, tibialis anterior weakness, easy fatigability" "12y" "19y" "proximal lower-limb weakness" "" "" "" "" "" "" "muscular dystrophy" "" "0000351759" "01456" "00466395" "04653" "Isolated (sporadic)" "" "Limb-girdle muscular dystrophy * Motor delay * Hyperlordosis * Muscle fiber necrosis * Increased endomysial connective tissue * Abnormal circulating creatine kinase concentration * Specific learning disability" "" "" "" "" "" "" "" "" "Myopathy, tubular aggregate, 1" "LGMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{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" "" "" "0000029052" "00029011" "1" "00006" "00006" "2015-01-18 11:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000029053" "00029012" "1" "00006" "00006" "2015-01-18 11:14:35" "" "" "SEQ" "DNA" "" "" "0000235479" "00234377" "1" "01850" "01850" "2019-05-13 18:52:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000235480" "00234378" "1" "01850" "01850" "2019-05-14 14:22:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000235481" "00234379" "1" "01850" "01850" "2019-05-14 17:09:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000267226" "00266102" "1" "00006" "00006" "2019-10-12 17:12:29" "" "" "SEQ" "DNA" "" "" "0000267227" "00266104" "1" "00006" "00006" "2019-10-12 17:12:29" "" "" "SEQ" "DNA" "" "" "0000267228" "00266105" "1" "00006" "00006" "2019-10-12 17:12:29" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000267507" "00266381" "1" "01850" "01850" "2019-10-25 11:22:23" "" "" "SEQ-NG" "DNA" "" "" "0000267511" "00266385" "1" "01850" "01850" "2019-10-25 12:20:29" "" "" "SEQ" "DNA" "" "" "0000270454" "00269322" "1" "01850" "01850" "2019-11-18 16:48:21" "" "" "SEQ" "DNA" "" "" "0000272328" "00271177" "1" "01850" "01850" "2019-12-13 16:18:47" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000272329" "00271178" "1" "01850" "01850" "2019-12-13 16:31:19" "" "" "SEQ" "DNA" "Blood" "" "0000288548" "00287377" "1" "03564" "03564" "2020-02-14 15:25:43" "" "" "-" "DNA" "blood" "" "0000291559" "00290391" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291560" "00290392" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291561" "00290393" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000468058" "00466395" "1" "04653" "04653" "2025-08-27 10:57:25" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000029052" "KRTAP1-1" "0000029052" "RERE" "0000029052" "STIM1" "0000029053" "STIM1" "0000235479" "STIM1" "0000235480" "STIM1" "0000235481" "STIM1" "0000267226" "STIM1" "0000267227" "STIM1" "0000267228" "STIM1" "0000267507" "STIM1" "0000270454" "STIM1" ## 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 = 103 "{{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}}" "0000004961" "3" "50" "11" "3993857" "3993857" "subst" "0" "00037" "STIM1_000001" "g.3993857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3972627C>T" "" "VUS" "" "0000004962" "3" "50" "11" "4010738" "4010738" "subst" "0" "00037" "STIM1_000003" "g.4010738G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3989508G>A" "" "VUS" "" "0000012915" "3" "30" "11" "3913861" "3913861" "subst" "0" "00037" "STIM1_000002" "g.3913861T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3892631T>G" "" "likely benign" "" "0000012916" "3" "50" "11" "3993857" "3993857" "subst" "0" "00037" "STIM1_000001" "g.3993857C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.3972627C>T" "" "VUS" "" "0000052401" "0" "90" "11" "4095850" "4095850" "subst" "0" "00006" "STIM1_000004" "g.4095850C>T" "" "{PMID:Nesin 2014:24591628}" "" "" "functional analysis variant" "Unknown" "" "" "0" "" "" "g.4074620C>T" "" "pathogenic" "" "0000052404" "0" "90" "11" "4095850" "4095850" "subst" "0" "00006" "STIM1_000004" "g.4095850C>T" "" "{PMID:Nesin 2014:24591628}" "" "" "" "Unknown" "" "" "0" "" "" "g.4074620C>T" "" "pathogenic" "" "0000248641" "0" "10" "11" "4103524" "4103524" "subst" "0.503036" "02325" "STIM1_000010" "g.4103524A>G" "" "" "" "STIM1(NM_001277961.3):c.1080A>G (p.Q360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4082294A>G" "" "benign" "" "0000311581" "0" "10" "11" "4104745" "4104745" "subst" "0.894261" "02325" "STIM1_000011" "g.4104745C>G" "" "" "" "STIM1(NM_001277961.3):c.1474+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4083515C>G" "" "benign" "" "0000314179" "0" "50" "11" "4107737" "4107737" "subst" "4.06689E-6" "02326" "STIM1_000012" "g.4107737G>T" "" "" "" "STIM1(NM_003156.3):c.1505G>T (p.R502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086507G>T" "" "VUS" "" "0000314180" "0" "30" "11" "4045100" "4045100" "subst" "1.62464E-5" "02326" "STIM1_000006" "g.4045100C>T" "" "" "" "STIM1(NM_001277961.1):c.271-3C>T, STIM1(NM_003156.3):c.271-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4023870C>T" "" "likely benign" "" "0000314181" "0" "10" "11" "4080583" "4080583" "subst" "8.53145E-5" "02326" "STIM1_000008" "g.4080583G>T" "" "" "" "STIM1(NM_003156.3):c.570G>T (p.L190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4059353G>T" "" "benign" "" "0000315823" "0" "50" "11" "4107958" "4107960" "del" "0" "01943" "STIM1_000013" "g.4107958_4107960del" "" "" "" "STIM1(NM_001277961.1):c.1726_1728delACC (p.T576del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086728_4086730del" "" "VUS" "" "0000315824" "0" "50" "11" "4108060" "4108060" "subst" "0.00142826" "01943" "STIM1_000014" "g.4108060G>A" "" "" "" "STIM1(NM_001277961.1):c.1828G>A (p.A610T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086830G>A" "" "VUS" "" "0000315825" "0" "50" "11" "4108092" "4108092" "subst" "0.00761791" "01943" "STIM1_000015" "g.4108092G>A" "" "" "" "STIM1(NM_001277961.1):c.1859+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086862G>A" "" "VUS" "" "0000315826" "0" "30" "11" "4076858" "4076858" "subst" "6.59069E-5" "01943" "STIM1_000007" "g.4076858C>A" "" "" "" "STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4055628C>A" "" "likely benign" "" "0000315827" "0" "30" "11" "3877591" "3877591" "subst" "1.62499E-5" "01943" "STIM1_000005" "g.3877591G>C" "" "" "" "STIM1(NM_001277961.1):c.91G>C (p.A31P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3856361G>C" "" "likely benign" "" "0000315828" "0" "50" "11" "4103418" "4103418" "subst" "1.21836E-5" "01943" "STIM1_000009" "g.4103418G>A" "" "" "" "STIM1(NM_001277961.1):c.974G>A (p.R325Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4082188G>A" "" "VUS" "" "0000348536" "0" "30" "11" "4112582" "4112582" "subst" "0.00436206" "02327" "STIM1_000017" "g.4112582C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091352C>T" "" "likely benign" "" "0000349127" "0" "30" "11" "4112541" "4112541" "subst" "0.00175899" "02327" "STIM1_000016" "g.4112541C>T" "" "" "" "STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091311C>T" "" "likely benign" "" "0000478718" "0" "99" "11" "3988858" "3988858" "subst" "0" "01850" "STIM1_000031" "g.3988858C>G" "" "{PMID:Bohm 2013:23332920}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.3967628C>A" "" "pathogenic" "" "0000478719" "0" "77" "11" "4045106" "4045106" "subst" "0" "01850" "STIM1_000018" "g.4045106C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.4023876C>G" "" "likely pathogenic" "" "0000478720" "0" "77" "11" "4045125" "4045125" "subst" "0" "01850" "STIM1_000019" "g.4045125A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.4023895A>G" "" "likely pathogenic" "" "0000543894" "0" "30" "11" "4045100" "4045100" "subst" "1.62464E-5" "01943" "STIM1_000006" "g.4045100C>T" "" "" "" "STIM1(NM_001277961.1):c.271-3C>T, STIM1(NM_003156.3):c.271-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4023870C>T" "" "likely benign" "" "0000543896" "0" "50" "11" "4103457" "4103457" "subst" "0" "01943" "STIM1_000022" "g.4103457A>C" "" "" "" "STIM1(NM_001277961.1):c.1013A>C (p.H338P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4082227A>C" "" "VUS" "" "0000543897" "0" "30" "11" "4107750" "4107750" "subst" "0.000959428" "02326" "STIM1_000023" "g.4107750A>G" "" "" "" "STIM1(NM_001277961.1):c.1518A>G (p.P506=), STIM1(NM_003156.3):c.1518A>G (p.P506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086520A>G" "" "likely benign" "" "0000543898" "0" "50" "11" "4107784" "4107784" "subst" "0.00023234" "01943" "STIM1_000024" "g.4107784G>A" "" "" "" "STIM1(NM_001277961.1):c.1552G>A (p.G518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086554G>A" "" "VUS" "" "0000543899" "0" "50" "11" "4107967" "4107969" "del" "0" "01943" "STIM1_000025" "g.4107967_4107969del" "" "" "" "STIM1(NM_001277961.1):c.1735_1737delACC (p.T579del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4086737_4086739del" "" "VUS" "" "0000543900" "0" "30" "11" "4112541" "4112541" "subst" "0.00175899" "01943" "STIM1_000016" "g.4112541C>T" "" "" "" "STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091311C>T" "" "likely benign" "" "0000543901" "0" "30" "11" "4112541" "4112541" "subst" "0.00175899" "02326" "STIM1_000016" "g.4112541C>T" "" "" "" "STIM1(NM_001277961.1):c.1889C>T (p.S630F), STIM1(NM_003156.3):c.1571C>T (p.S524F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091311C>T" "" "likely benign" "" "0000543902" "0" "50" "11" "4112565" "4112565" "subst" "0" "01943" "STIM1_000026" "g.4112565G>C" "" "" "" "STIM1(NM_001277961.1):c.1913G>C (p.R638P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091335G>C" "" "VUS" "" "0000543903" "0" "30" "11" "4112814" "4112814" "subst" "8.5284E-5" "01943" "STIM1_000027" "g.4112814G>A" "" "" "" "STIM1(NM_001277961.1):c.2162G>A (p.R721H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091584G>A" "" "likely benign" "" "0000543905" "0" "30" "11" "4112956" "4112956" "subst" "0.000601978" "01943" "STIM1_000028" "g.4112956C>A" "" "" "" "STIM1(NM_001277961.1):c.2304C>A (p.G768=), STIM1(NM_001382567.1):c.2079C>A (p.(Gly693=)), STIM1(NM_003156.3):c.1986C>A (p.G662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091726C>A" "" "likely benign" "" "0000543906" "0" "30" "11" "4112956" "4112956" "subst" "0.000601978" "02326" "STIM1_000028" "g.4112956C>A" "" "" "" "STIM1(NM_001277961.1):c.2304C>A (p.G768=), STIM1(NM_001382567.1):c.2079C>A (p.(Gly693=)), STIM1(NM_003156.3):c.1986C>A (p.G662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4091726C>A" "" "likely benign" "" "0000598266" "3" "90" "11" "4045213" "4045213" "dup" "0" "00006" "STIM1_000029" "g.4045213dup" "" "{PMID:Picard 2009:19420366}" "" "" "" "Germline" "yes" "" "0" "" "" "g.4023983dup" "" "pathogenic (recessive)" "" "0000598267" "3" "90" "11" "4045213" "4045213" "dup" "0" "00006" "STIM1_000029" "g.4045213dup" "" "{PMID:Picard 2009:19420366}" "" "" "" "Germline" "yes" "" "0" "" "" "g.4023983dup" "" "pathogenic (recessive)" "" "0000598268" "3" "90" "11" "4103413" "4103413" "subst" "0" "00006" "STIM1_000030" "g.4103413G>A" "" "{PMID:Byun 2010:20876309}" "" "c.1538-1G>A" "" "Germline" "" "" "0" "" "" "g.4082183G>A" "" "pathogenic (recessive)" "" "0000598567" "0" "99" "11" "3988858" "3988858" "subst" "0" "01850" "STIM1_000020" "g.3988858C>A" "" "{PMID:Morin 2019:31448844}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3967628C>A" "" "pathogenic (dominant)" "" "0000598571" "0" "99" "11" "3988881" "3988881" "subst" "0" "01850" "STIM1_000032" "g.3988881A>C" "" "{PMID:Bohm 2014:25326555}" "" "" "" "De novo" "yes" "" "0" "" "" "g.3967651A>C" "" "pathogenic" "" "0000604223" "0" "99" "11" "3988884" "3988884" "subst" "0" "01850" "STIM1_000033" "g.3988884G>A" "" "{PMID:Walter 2015:25953320}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3967654G>A" "" "pathogenic (dominant)" "" "0000613333" "0" "30" "11" "4108092" "4108092" "subst" "0.00761791" "01804" "STIM1_000015" "g.4108092G>A" "" "" "" "STIM1(NM_001277961.1):c.1859+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4086862G>A" "" "likely benign" "" "0000613334" "0" "30" "11" "4112572" "4112572" "subst" "0" "01943" "RRM1_000001" "g.4112572C>T" "" "" "" "STIM1(NM_001277961.1):c.1920C>T (p.A640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4091342C>T" "" "likely benign" "" "0000613335" "0" "10" "11" "4112773" "4112773" "subst" "0.0096239" "01804" "RRM1_000002" "g.4112773C>G" "" "" "" "STIM1(NM_001277961.1):c.2121C>G (p.(Pro707=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4091543C>G" "" "benign" "" "0000625595" "0" "99" "11" "3988893" "3988893" "subst" "0" "01850" "STIM1_000036" "g.3988893A>G" "" "{PMID:Böhm 2013:23332920}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3967663A>G" "" "pathogenic (dominant)" "" "0000626219" "0" "99" "11" "3988894" "3988894" "subst" "0" "01850" "STIM1_000037" "g.3988894T>A" "" "{PMID:Noury 2017:27876257}" "" "" "" "De novo" "yes" "" "0" "" "" "g.3967664T>A" "" "pathogenic (dominant)" "" "0000644806" "0" "30" "11" "4108076" "4108076" "subst" "0" "03564" "STIM1_000038" "g.4108076G>A" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.4086846G>A" "" "likely benign" "" "0000648248" "1" "30" "11" "4080610" "4080610" "subst" "0.000503795" "03575" "STIM1_000039" "g.4080610C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs189905382}" "Germline" "" "rs189905382" "0" "" "" "g.4059380C>A" "" "likely benign" "" "0000648249" "1" "50" "11" "4112541" "4112541" "subst" "0.00175899" "03575" "STIM1_000016" "g.4112541C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs141215990}" "Germline" "" "rs141215990" "0" "" "" "g.4091311C>T" "" "VUS" "" "0000648250" "1" "50" "11" "4112898" "4112898" "subst" "0.000820311" "03575" "STIM1_000040" "g.4112898G>A" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs140080199}" "Germline" "" "rs140080199" "0" "" "" "g.4091668G>A" "" "VUS" "" "0000656788" "0" "50" "11" "4112533" "4112533" "subst" "5.68833E-5" "01804" "RRM1_000003" "g.4112533G>A" "" "" "" "STIM1(NM_001277961.1):c.1881G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4091303G>A" "" "VUS" "" "0000679183" "0" "70" "11" "3988904" "3988904" "subst" "0" "02327" "STIM1_000042" "g.3988904A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679184" "0" "10" "11" "4045229" "4045229" "subst" "0.0124183" "01804" "STIM1_000043" "g.4045229C>T" "" "" "" "STIM1(NM_001277961.1):c.385+12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679185" "0" "10" "11" "4104103" "4104103" "subst" "0.0136962" "01804" "STIM1_000044" "g.4104103T>C" "" "" "" "STIM1(NM_001277961.1):c.1138-9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691058" "0" "90" "11" "4045158" "4045158" "subst" "0" "02327" "STIM1_000045" "g.4045158A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691059" "0" "30" "11" "4107750" "4107750" "subst" "0.000959428" "01943" "STIM1_000023" "g.4107750A>G" "" "" "" "STIM1(NM_001277961.1):c.1518A>G (p.P506=), STIM1(NM_003156.3):c.1518A>G (p.P506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691060" "0" "50" "11" "4107874" "4107874" "subst" "0.000248865" "01943" "STIM1_000046" "g.4107874G>A" "" "" "" "STIM1(NM_001277961.1):c.1642G>A (p.G548R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723445" "0" "50" "11" "4076828" "4076828" "subst" "0.000190297" "02329" "STIM1_000034" "g.4076828C>T" "" "" "" "STIM1(NM_001277961.1):c.458C>T (p.T153I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723446" "0" "30" "11" "4104619" "4104619" "subst" "0" "01943" "STIM1_000047" "g.4104619C>T" "" "" "" "STIM1(NM_001277961.1):c.1365C>T (p.N455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805115" "0" "30" "11" "3877605" "3877605" "subst" "7.31493E-5" "01943" "STIM1_000048" "g.3877605C>T" "" "" "" "STIM1(NM_001277961.1):c.105C>T (p.S35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805116" "0" "30" "11" "4045207" "4045207" "subst" "4.06141E-6" "02326" "STIM1_000049" "g.4045207G>A" "" "" "" "STIM1(NM_001277961.1):c.375G>A (p.K125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805117" "0" "50" "11" "4076824" "4076824" "subst" "0.000122579" "01943" "STIM1_000050" "g.4076824G>A" "" "" "" "STIM1(NM_001277961.1):c.454G>A (p.E152K), STIM1(NM_003156.4):c.454G>A (p.E152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805118" "0" "50" "11" "4076858" "4076858" "subst" "6.59069E-5" "02325" "STIM1_000007" "g.4076858C>A" "" "" "" "STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805119" "0" "30" "11" "4104144" "4104144" "subst" "0.000227541" "01943" "STIM1_000051" "g.4104144C>G" "" "" "" "STIM1(NM_001277961.1):c.1170C>G (p.L390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805120" "0" "30" "11" "4112725" "4112725" "subst" "6.90658E-5" "02326" "RRM1_000004" "g.4112725G>A" "" "" "" "STIM1(NM_001277961.1):c.2073G>A (p.A691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852899" "0" "50" "11" "4091374" "4091374" "subst" "0" "01943" "STIM1_000052" "g.4091374G>T" "" "" "" "STIM1(NM_001277961.1):c.732G>T (p.M244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852900" "0" "50" "11" "4112957" "4112957" "subst" "8.13703E-6" "01943" "RRM1_000005" "g.4112957G>A" "" "" "" "STIM1(NM_001277961.1):c.2305G>A (p.E769K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862528" "0" "30" "11" "4095728" "4095728" "subst" "0.000223978" "02326" "STIM1_000053" "g.4095728C>A" "" "" "" "STIM1(NM_001277961.1):c.792-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862529" "0" "50" "11" "4112898" "4112898" "subst" "0.000820311" "01943" "STIM1_000040" "g.4112898G>A" "" "" "" "STIM1(NM_001277961.1):c.2246G>A (p.R749H), STIM1(NM_003156.4):c.1928G>A (p.R643H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889820" "0" "30" "11" "4080523" "4080523" "subst" "0" "02326" "STIM1_000054" "g.4080523C>A" "" "" "" "STIM1(NM_001277961.1):c.510C>A (p.T170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889821" "0" "30" "11" "4091440" "4091440" "subst" "0" "01804" "STIM1_000055" "g.4091440C>T" "" "" "" "STIM1(NM_001277961.1):c.791+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889822" "0" "50" "11" "4107716" "4107716" "subst" "8.13464E-6" "02327" "STIM1_000056" "g.4107716T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889823" "0" "30" "11" "4107855" "4107855" "subst" "9.92713E-6" "02326" "STIM1_000057" "g.4107855T>C" "" "" "" "STIM1(NM_001277961.1):c.1623T>C (p.S541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889824" "0" "50" "11" "4112558" "4112558" "subst" "4.06194E-5" "02325" "RRM1_000006" "g.4112558C>T" "" "" "" "STIM1(NM_003156.4):c.1588C>T (p.R530C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889825" "0" "30" "11" "4112857" "4112857" "subst" "5.27893E-5" "02326" "RRM1_000007" "g.4112857A>G" "" "" "" "STIM1(NM_001277961.1):c.2205A>G (p.P735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889826" "0" "50" "11" "4112870" "4112870" "subst" "4.06078E-6" "02327" "RRM1_000008" "g.4112870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889827" "0" "50" "11" "4112898" "4112898" "subst" "0.000820311" "02325" "STIM1_000040" "g.4112898G>A" "" "" "" "STIM1(NM_001277961.1):c.2246G>A (p.R749H), STIM1(NM_003156.4):c.1928G>A (p.R643H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925382" "0" "30" "11" "4091240" "4091240" "subst" "8.12242E-6" "02326" "STIM1_000058" "g.4091240C>G" "" "" "" "STIM1(NM_001277961.1):c.614-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925383" "0" "10" "11" "4095801" "4095801" "subst" "0.00142901" "02326" "STIM1_000059" "g.4095801C>T" "" "" "" "STIM1(NM_001277961.1):c.861C>T (p.R287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929861" "0" "30" "11" "3988843" "3988843" "subst" "0.000158398" "02326" "STIM1_000060" "g.3988843A>G" "" "" "" "STIM1(NM_001277961.1):c.201A>G (p.A67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929862" "0" "50" "11" "4080537" "4080537" "subst" "0" "02325" "STIM1_000061" "g.4080537C>T" "" "" "" "STIM1(NM_003156.4):c.524C>T (p.T175I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929863" "0" "30" "11" "4107967" "4107969" "del" "0" "02326" "STIM1_000025" "g.4107967_4107969del" "" "" "" "STIM1(NM_001277961.1):c.1735_1737delACC (p.T579del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949654" "0" "30" "11" "4104480" "4104480" "subst" "0.000971901" "02326" "STIM1_000062" "g.4104480C>T" "" "" "" "STIM1(NM_001277961.1):c.1239-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949655" "0" "30" "11" "4104556" "4104556" "subst" "0.000967787" "02326" "STIM1_000063" "g.4104556G>A" "" "" "" "STIM1(NM_001277961.1):c.1302G>A (p.E434=), STIM1(NM_001382567.1):c.1302G>A (p.(Glu434=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966354" "0" "50" "11" "4076824" "4076824" "subst" "0.000122579" "02325" "STIM1_000050" "g.4076824G>A" "" "" "" "STIM1(NM_001277961.1):c.454G>A (p.E152K), STIM1(NM_003156.4):c.454G>A (p.E152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979561" "0" "50" "11" "4076779" "4076779" "subst" "0" "01804" "STIM1_000065" "g.4076779G>A" "" "" "" "STIM1(NM_001382567.1):c.409G>A (p.(Val137Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979562" "0" "30" "11" "4080520" "4080520" "subst" "0.000284398" "02326" "STIM1_000066" "g.4080520C>T" "" "" "" "STIM1(NM_001277961.1):c.507C>T (p.V169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979563" "0" "30" "11" "4107811" "4107811" "subst" "2.86812E-5" "01804" "STIM1_000067" "g.4107811C>T" "" "" "" "STIM1(NM_001277961.3):c.1579C>T (p.(Arg527Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979564" "0" "30" "11" "4112956" "4112956" "subst" "0.000601978" "01804" "STIM1_000028" "g.4112956C>A" "" "" "" "STIM1(NM_001277961.1):c.2304C>A (p.G768=), STIM1(NM_001382567.1):c.2079C>A (p.(Gly693=)), STIM1(NM_003156.3):c.1986C>A (p.G662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979565" "0" "30" "11" "4116267" "4116267" "subst" "0.000400474" "01804" "RRM1_000009" "g.4116267G>C" "" "" "" "RRM1(NM_001033.5):c.19+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999018" "0" "50" "11" "4103567" "4103567" "subst" "1.64007E-5" "01804" "STIM1_000068" "g.4103567G>C" "" "" "" "STIM1(NM_003156.3):c.1123G>C (p.(Val375Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999019" "0" "50" "11" "4104531" "4104531" "subst" "0" "01804" "STIM1_000069" "g.4104531G>A" "" "" "" "STIM1(NM_003156.3):c.1277G>A (p.(Arg426His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999020" "0" "50" "11" "4104540" "4104540" "subst" "0" "01804" "STIM1_000070" "g.4104540G>A" "" "" "" "STIM1(NM_003156.3):c.1286G>A (p.(Arg429His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999021" "0" "90" "11" "4108011" "4108014" "del" "0" "02325" "STIM1_000071" "g.4108011_4108014del" "" "" "" "STIM1(NM_003156.4):c.1541+238_1541+241delTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999022" "0" "10" "11" "4108092" "4108092" "subst" "0.00761791" "02327" "STIM1_000015" "g.4108092G>A" "" "" "" "STIM1(NM_001277961.1):c.1859+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014792" "0" "30" "11" "4045117" "4045117" "subst" "1.6243E-5" "02326" "STIM1_000072" "g.4045117C>T" "" "" "" "STIM1(NM_001277961.1):c.285C>T (p.D95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038437" "0" "30" "11" "3877608" "3877608" "subst" "2.03209E-5" "01804" "STIM1_000073" "g.3877608G>A" "" "" "" "STIM1(NM_001382569.1):c.104G>A (p.(Arg35Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038438" "0" "30" "11" "4076858" "4076858" "subst" "6.59069E-5" "01804" "STIM1_000007" "g.4076858C>A" "" "" "" "STIM1(NM_001277961.1):c.488C>A (p.A163D), STIM1(NM_001382567.1):c.488C>A (p.(Ala163Asp)), STIM1(NM_003156.4):c.488C>A (p.A163D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038439" "0" "50" "11" "4104160" "4104160" "subst" "1.21913E-5" "01804" "STIM1_000074" "g.4104160G>A" "" "" "" "STIM1(NM_001382567.1):c.1186G>A (p.(Val396Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038440" "0" "30" "11" "4104556" "4104556" "subst" "0.000967787" "01804" "STIM1_000063" "g.4104556G>A" "" "" "" "STIM1(NM_001277961.1):c.1302G>A (p.E434=), STIM1(NM_001382567.1):c.1302G>A (p.(Glu434=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038441" "0" "30" "11" "4107780" "4107780" "subst" "5.2935E-5" "01804" "STIM1_000075" "g.4107780A>G" "" "" "" "STIM1(NM_001382567.1):c.1634+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038442" "0" "30" "11" "4107827" "4107827" "subst" "2.95316E-5" "01804" "STIM1_000076" "g.4107827G>A" "" "" "" "STIM1(NM_001277961.3):c.1595G>A (p.(Arg532Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038443" "0" "50" "11" "4107887" "4107887" "subst" "0" "01804" "STIM1_000077" "g.4107887C>T" "" "" "" "STIM1(NM_001277961.3):c.1655C>T (p.(Pro552Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038444" "0" "30" "11" "4112808" "4112808" "subst" "0.000682283" "01804" "RRM1_000013" "g.4112808C>A" "" "" "" "STIM1(NM_001382567.1):c.1931C>A (p.(Ser644Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047525" "0" "50" "11" "3988904" "3988904" "subst" "0" "04653" "STIM1_000042" "g.3988904A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.3967674A>G" "" "likely 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 STIM1 ## Count = 103 "{{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}}" "0000004961" "00025469" "50" "270" "4945" "270" "4945" "c.270+4945C>T" "r.(=)" "p.(=)" "" "0000004962" "00025469" "50" "270" "21826" "270" "21826" "c.270+21826G>A" "r.(=)" "p.(=)" "" "0000012915" "00025469" "30" "139" "36222" "139" "36222" "c.139+36222T>G" "r.(=)" "p.(=)" "" "0000012916" "00025469" "50" "270" "4945" "270" "4945" "c.270+4945C>T" "r.(=)" "p.(=)" "" "0000052401" "00025469" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0000052404" "00025469" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Arg304Trp)" "" "0000248641" "00025469" "10" "1080" "0" "1080" "0" "c.1080A>G" "r.(?)" "p.(Gln360=)" "" "0000311581" "00025469" "10" "1474" "17" "1474" "17" "c.1474+17C>G" "r.(=)" "p.(=)" "" "0000314179" "00025469" "50" "1505" "0" "1505" "0" "c.1505G>T" "r.(?)" "p.(Arg502Leu)" "" "0000314180" "00025469" "30" "271" "-3" "271" "-3" "c.271-3C>T" "r.spl?" "p.?" "" "0000314181" "00025469" "10" "570" "0" "570" "0" "c.570G>T" "r.(?)" "p.(Leu190=)" "" "0000315823" "00025469" "50" "1726" "0" "1728" "0" "c.1726_1728del" "r.(?)" "p.(Thr576del)" "" "0000315824" "00025469" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Ala610Thr)" "" "0000315825" "00025469" "50" "1859" "1" "1859" "1" "c.1859+1G>A" "r.spl?" "p.?" "" "0000315826" "00025469" "30" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ala163Asp)" "" "0000315827" "00025469" "30" "91" "0" "91" "0" "c.91G>C" "r.(?)" "p.(Ala31Pro)" "" "0000315828" "00025469" "50" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "" "0000348536" "00025469" "30" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Pro644Ser)" "" "0000349127" "00025469" "30" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Phe)" "" "0000478718" "00025469" "99" "216" "0" "216" "0" "c.216C>G" "r.(?)" "p.(His72Gln)" "2" "0000478719" "00025469" "77" "274" "0" "274" "0" "c.274C>G" "r.(?)" "p.(Leu92Val)" "3" "0000478720" "00025469" "77" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Tyr98Cys)" "3" "0000543894" "00025469" "30" "271" "-3" "271" "-3" "c.271-3C>T" "r.spl?" "p.?" "" "0000543896" "00025469" "50" "1013" "0" "1013" "0" "c.1013A>C" "r.(?)" "p.(His338Pro)" "" "0000543897" "00025469" "30" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Pro506=)" "" "0000543898" "00025469" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Ser)" "" "0000543899" "00025469" "50" "1735" "0" "1737" "0" "c.1735_1737del" "r.(?)" "p.(Thr579del)" "" "0000543900" "00025469" "30" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Phe)" "" "0000543901" "00025469" "30" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Phe)" "" "0000543902" "00025469" "50" "1913" "0" "1913" "0" "c.1913G>C" "r.(?)" "p.(Arg638Pro)" "" "0000543903" "00025469" "30" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721His)" "" "0000543905" "00025469" "30" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Gly768=)" "" "0000543906" "00025469" "30" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Gly768=)" "" "0000598266" "00025469" "90" "381" "0" "381" "0" "c.381dup" "r.(?)" "p.(Glu128Argfs*9)" "" "0000598267" "00025469" "90" "381" "0" "381" "0" "c.381dup" "r.(?)" "p.(Glu128Argfs*9)" "" "0000598268" "00025469" "90" "970" "-1" "970" "-1" "c.970-1G>A" "r.[970_1033del,969_970ins[970-88_970-2;g],969_970ins[970-101_970-2;g],970_1137del]" "p.?" "" "0000598567" "00025469" "99" "216" "0" "216" "0" "c.216C>A" "r.(?)" "p.(His72Gln)" "2" "0000598571" "00025469" "99" "239" "0" "239" "0" "c.239A>C" "r.(?)" "p.(Asn80Thr)" "2" "0000604223" "00025469" "99" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Gly81Asp)" "2" "0000613333" "00025469" "30" "1859" "1" "1859" "1" "c.1859+1G>A" "r.spl?" "p.?" "" "0000613334" "00025469" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Ala640=)" "" "0000613335" "00025469" "10" "2121" "0" "2121" "0" "c.2121C>G" "r.(?)" "p.(Pro707=)" "" "0000625595" "00025469" "99" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asp84Gly)" "2" "0000626219" "00025469" "99" "252" "0" "252" "0" "c.252T>A" "r.(?)" "p.(Asp84Glu)" "2" "0000644806" "00025469" "30" "1844" "0" "1844" "0" "c.1844G>A" "c.1844G>A" "p(Arg615His)" "12" "0000648248" "00025469" "30" "597" "0" "597" "0" "c.597C>A" "r.(=)" "p.(=)" "" "0000648249" "00025469" "50" "1889" "0" "1889" "0" "c.1889C>T" "r.(?)" "p.(Ser630Phe)" "" "0000648250" "00025469" "50" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749His)" "" "0000656788" "00025469" "50" "1881" "0" "1881" "0" "c.1881G>A" "r.(?)" "p.(Ser627=)" "" "0000679183" "00025469" "70" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Ser88Gly)" "" "0000679184" "00025469" "10" "385" "12" "385" "12" "c.385+12C>T" "r.(=)" "p.(=)" "" "0000679185" "00025469" "10" "1138" "-9" "1138" "-9" "c.1138-9T>C" "r.(=)" "p.(=)" "" "0000691058" "00025469" "90" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.(His109Arg)" "" "0000691059" "00025469" "30" "1518" "0" "1518" "0" "c.1518A>G" "r.(?)" "p.(Pro506=)" "" "0000691060" "00025469" "50" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" "0000723445" "00025469" "50" "458" "0" "458" "0" "c.458C>T" "r.(?)" "p.(Thr153Ile)" "" "0000723446" "00025469" "30" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Asn455=)" "" "0000805115" "00025469" "30" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Ser35=)" "" "0000805116" "00025469" "30" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Lys125=)" "" "0000805117" "00025469" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000805118" "00025469" "50" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ala163Asp)" "" "0000805119" "00025469" "30" "1170" "0" "1170" "0" "c.1170C>G" "r.(?)" "p.(Leu390=)" "" "0000805120" "00025469" "30" "2073" "0" "2073" "0" "c.2073G>A" "r.(?)" "p.(Ala691=)" "" "0000852899" "00025469" "50" "732" "0" "732" "0" "c.732G>T" "r.(?)" "p.(Met244Ile)" "" "0000852900" "00025469" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Glu769Lys)" "" "0000862528" "00025469" "30" "792" "-4" "792" "-4" "c.792-4C>A" "r.spl?" "p.?" "" "0000862529" "00025469" "50" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749His)" "" "0000889820" "00025469" "30" "510" "0" "510" "0" "c.510C>A" "r.(?)" "p.(Thr170=)" "" "0000889821" "00025469" "30" "791" "7" "791" "7" "c.791+7C>T" "r.(=)" "p.(=)" "" "0000889822" "00025469" "50" "1484" "0" "1484" "0" "c.1484T>A" "r.(?)" "p.(Leu495Gln)" "" "0000889823" "00025469" "30" "1623" "0" "1623" "0" "c.1623T>C" "r.(?)" "p.(Ser541=)" "" "0000889824" "00025469" "50" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Arg636Cys)" "" "0000889825" "00025469" "30" "2205" "0" "2205" "0" "c.2205A>G" "r.(?)" "p.(Pro735=)" "" "0000889826" "00025469" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Arg740*)" "" "0000889827" "00025469" "50" "2246" "0" "2246" "0" "c.2246G>A" "r.(?)" "p.(Arg749His)" "" "0000925382" "00025469" "30" "614" "-16" "614" "-16" "c.614-16C>G" "r.(=)" "p.(=)" "" "0000925383" "00025469" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Arg287=)" "" "0000929861" "00025469" "30" "201" "0" "201" "0" "c.201A>G" "r.(?)" "p.(=)" "" "0000929862" "00025469" "50" "524" "0" "524" "0" "c.524C>T" "r.(?)" "p.(Thr175Ile)" "" "0000929863" "00025469" "30" "1735" "0" "1737" "0" "c.1735_1737del" "r.(?)" "p.(Thr579del)" "" "0000949654" "00025469" "30" "1239" "-13" "1239" "-13" "c.1239-13C>T" "r.(=)" "p.(=)" "" "0000949655" "00025469" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(=)" "" "0000966354" "00025469" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000979561" "00025469" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Met)" "" "0000979562" "00025469" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(=)" "" "0000979563" "00025469" "30" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Trp)" "" "0000979564" "00025469" "30" "2304" "0" "2304" "0" "c.2304C>A" "r.(?)" "p.(Gly768=)" "" "0000979565" "00025469" "30" "5615" "0" "5615" "0" "c.*3239G>C" "r.(=)" "p.(=)" "" "0000999018" "00025469" "50" "1123" "0" "1123" "0" "c.1123G>C" "r.(?)" "p.(Val375Leu)" "" "0000999019" "00025469" "50" "1277" "0" "1277" "0" "c.1277G>A" "r.(?)" "p.(Arg426His)" "" "0000999020" "00025469" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429His)" "" "0000999021" "00025469" "90" "1779" "0" "1782" "0" "c.1779_1782del" "r.(?)" "p.(Phe594Serfs*17)" "" "0000999022" "00025469" "10" "1859" "1" "1859" "1" "c.1859+1G>A" "r.spl?" "p.?" "" "0001014792" "00025469" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(=)" "" "0001038437" "00025469" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(=)" "" "0001038438" "00025469" "30" "488" "0" "488" "0" "c.488C>A" "r.(?)" "p.(Ala163Asp)" "" "0001038439" "00025469" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Val396Met)" "" "0001038440" "00025469" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(=)" "" "0001038441" "00025469" "30" "1548" "0" "1548" "0" "c.1548A>G" "r.(?)" "p.(=)" "" "0001038442" "00025469" "30" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "0001038443" "00025469" "50" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Pro552Leu)" "" "0001038444" "00025469" "30" "2156" "0" "2156" "0" "c.2156C>A" "r.(?)" "p.(Ser719Tyr)" "" "0001047525" "00025469" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Ser88Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004961" "0000000209" "0000004962" "0000000210" "0000012915" "0000000210" "0000012916" "0000029052" "0000052401" "0000029053" "0000052404" "0000235479" "0000478718" "0000235480" "0000478719" "0000235481" "0000478720" "0000267226" "0000598266" "0000267227" "0000598267" "0000267228" "0000598268" "0000267507" "0000598567" "0000267511" "0000598571" "0000270454" "0000604223" "0000272328" "0000625595" "0000272329" "0000626219" "0000288548" "0000644806" "0000291559" "0000648248" "0000291560" "0000648249" "0000291561" "0000648250" "0000468058" "0001047525"