### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STARD7) # 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}}" "STARD7" "StAR-related lipid transfer (START) domain containing 7" "2" "p11.1" "unknown" "NC_000002.11" "UD_136020994448" "" "https://www.LOVD.nl/STARD7" "" "1" "18063" "56910" "616712" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/STARD7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-19 12:50:03" "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}}" "00020430" "STARD7" "StAR-related lipid transfer (START) domain containing 7" "001" "NM_020151.3" "" "NP_064536.2" "" "" "" "-401" "2984" "1113" "96874573" "96850597" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04347" "FAME2;FMCTE2" "epilepsy, myoclonic, familial adult, type 2 (FAME2)" "AD" "607876" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2019-12-19 19:05:59" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STARD7" "04347" "STARD7" "05408" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00271426" "" "" "" "11" "" "00006" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "5-generation family, 11 affected (6F, 5M)" "F;M" "" "Italy" "" "0" "" "" "" "FamA/Fam4" "00271428" "" "" "" "55" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 55 affected, PatIV98" "M" "" "Australia;New Zealand" "" "0" "" "" "white, European" "Fam1PatIV98" "00271429" "" "" "" "2" "" "00006" "{PMID:Corbett 2019:31664034}" "family, 2 affected" "" "" "Italy" "" "0" "" "" "" "Fam2" "00271430" "" "" "" "4" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 4 affected" "" "" "Italy" "" "0" "" "" "" "Fam3" "00271431" "" "" "00271432" "1" "" "00006" "{PMID:Corbett 2019:31664034}" "PatIII37" "F" "" "Italy" "" "0" "" "" "" "Fam5PatIII37" "00271432" "" "" "" "25" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 25 affected" "" "" "Italy" "" "0" "" "" "" "Fam5" "00271433" "" "" "" "12" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 12 affected" "" "" "Italy" "" "0" "" "" "" "Fam6" "00271434" "" "" "" "4" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 4 affected" "" "" "Italy" "" "0" "" "" "" "Fam7" "00271435" "" "" "" "10" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 10 affected" "" "" "Italy" "" "0" "" "" "" "Fam8" "00271436" "" "" "" "13" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 13 affected" "" "" "Italy" "" "0" "" "" "" "Fam9" "00271437" "" "" "" "16" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 16 affected" "" "" "Italy" "" "0" "" "" "" "Fam10" "00271438" "" "" "" "10" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 10 affected" "" "" "Italy" "" "0" "" "" "" "Fam11" "00271439" "" "" "" "21" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 21 affected" "" "" "Italy" "" "0" "" "" "" "Fam12" "00271440" "" "" "" "3" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 3 affected" "" "" "Italy" "" "0" "" "" "" "Fam13" "00271441" "" "" "" "3" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 3 affected" "" "" "Italy" "" "0" "" "" "" "Fam14" "00271442" "" "" "" "4" "" "00006" "{PMID:De Fusco 2014:24114805}, {PMID:Corbett 2019:31664034}" "4-generation family, 5 affected (3F, 2M)" "F;M" "no" "Italy" "" "0" "" "" "" "FamB/Fam15" "00271443" "" "" "" "15" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 15 affected" "" "" "Iraq" "" "0" "" "" "Jewish-Sephardic" "Fam16" "00271444" "" "" "" "2" "" "00006" "{PMID:Corbett 2019:31664034}" "family, 2 affected" "" "" "Israel" "" "0" "" "" "Jewish-Sephardic" "Fam17" "00271445" "" "" "" "24" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 24 affected" "" "" "South Africa" "" "0" "" "" "white, European" "Fam18" "00271446" "" "" "" "13" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 13 affected" "" "" "France;Spain" "" "0" "" "" "" "Fam19" "00271447" "" "" "" "7" "" "00006" "{PMID:Corbett 2019:31664034}" "multi-generation family, 7 affected" "" "" "France;Spain" "" "0" "" "" "" "Fam20" "00271448" "" "" "" "1" "" "00006" "{PMID:Corbett 2019:31664034}" "2-generation family, 1 affected" "" "" "Syria" "" "0" "" "" "" "Fam21" "00271449" "" "" "" "11" "" "00006" "{PMID:Corbett 2019:31664034}" "5-generation family, 11 affected (3F, 8M)" "F;M" "" "Italy" "" "0" "" "" "" "Fam22" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00271426" "05408" "00271428" "05408" "00271429" "05408" "00271430" "05408" "00271431" "05408" "00271432" "05408" "00271433" "05408" "00271434" "05408" "00271435" "05408" "00271436" "05408" "00271437" "05408" "00271438" "05408" "00271439" "05408" "00271440" "05408" "00271441" "05408" "00271442" "05408" "00271443" "05408" "00271444" "05408" "00271445" "05408" "00271446" "05408" "00271447" "05408" "00271448" "05408" "00271449" "05408" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04347, 05408 ## Count = 23 "{{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}}" "0000208033" "05408" "00271426" "00006" "Familial, autosomal dominant" "" "mean age onset 22.3y (12-50y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 11/11, focal seizures 3/11; intellectual disability mild 3/11, moderate 1/11; dementia 0/11; drug resistant epilepsy 2/11; ataxia 0/11" "" "" "" "" "" "" "" "FAME2" "autosomal dominant cortical myoclonus and epilepsy" "0000208036" "05408" "00271428" "00006" "Familial, autosomal dominant" "" "mean age onset 18.6y (4-60y); myoclonus/cortical tremor 55/55, tonic-clonic seizures 8/55, focal seizures 2/55; intellectual disability 0/55; dementia 1/55 (88y); drug resistant epilepsy 0/55; ataxia 0/55migraine: 18/55" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208037" "05408" "00271429" "00006" "Familial, autosomal dominant" "" "mean age onset 15-25y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 2/2, focal seizures 0/2; intellectual disability 0/2; dementia 0/2; drug resistant epilepsy 0/2; ataxia 0/2psychiatric symptoms 1/2" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208038" "05408" "00271430" "00006" "Familial, autosomal dominant" "" "mean age onset 2-18y; myoclonus/cortical tremor 4/4, tonic-clonic seizures 4/4, focal seizures 2/4; intellectual disability mild/moderate 1/4, borderline 1/4; dementia 0/4; drug resistant epilepsy 4/4; ataxia 0/4prominent visuospatial impairment 4/4; psychiatric symptoms (reoccurring thoughts and compulsive behaviour) 1/4" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208039" "05408" "00271431" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208040" "05408" "00271432" "00006" "Familial, autosomal dominant" "" "mean age onset 26.6y (5-40y); myoclonus/cortical tremor 25/25, tonic-clonic seizures 10/25, focal seizures 0/25; intellectual disability 1/16; dementia 1/16 (58y); drug resistant epilepsy 0/16; ataxia 1/16migraine/headache: 4/16; psychiatric disorders (depression and/or anxiety with panic attacks) 6/16" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208041" "05408" "00271433" "00006" "Familial, autosomal dominant" "" "mean age onset 12y (8-18y); myoclonus/cortical tremor 11/12, tonic-clonic seizures 6/12, focal seizures 1/12; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 1/3; ataxia 2/3migraine/headache: 2/3; psychiatric disorders 1/3" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208042" "05408" "00271434" "00006" "Familial, autosomal dominant" "" "mean age onset 22.75y (10-36y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 0/4; intellectual disability 0/4; drug resistant epilepsy 0/4psychiatric disorders 1/4" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208043" "05408" "00271435" "00006" "Familial, autosomal dominant" "" "mean age onset 18.5y (17-20y); myoclonus/cortical tremor 6/6, tonic-clonic seizures 4/6, focal seizures 0/6; intellectual disability 0/6; dementia 1/6 (onset >70y); drug resistant epilepsy 0/6; ataxia 0/6" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208044" "05408" "00271436" "00006" "Familial, autosomal dominant" "" "mean age onset 17y (12-22y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 9/11, focal seizures 0/14; intellectual disability 0/11; dementia 0/11; drug resistant epilepsy 0/11; ataxia 0/11" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208045" "05408" "00271437" "00006" "Familial, autosomal dominant" "" "mean age onset 15.8y (13-20y); myoclonus/cortical tremor 14/14, tonic-clonic seizures 10/14, focal seizures 0/14; intellectual disability 0/14; dementia 1/14 (onset >70y); drug resistant epilepsy 0/14; ataxia 0/14" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208046" "05408" "00271438" "00006" "Familial, autosomal dominant" "" "mean age onset 15.5y (13-18y); myoclonus/cortical tremor 5/5, tonic-clonic seizures 4/5, focal seizures 0/5; intellectual disability 0/5; dementia 1/5 (>70y); drug resistant epilepsy 0/5; ataxia 0/5" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208047" "05408" "00271439" "00006" "Familial, autosomal dominant" "" "mean age onset 39.2y (24-56y); myoclonus/cortical tremor 17/17, tonic-clonic seizures 13/17, focal seizures 0/17; intellectual disability 0/5; dementia 0/17; drug resistant epilepsy 1/17; ataxia 0/17" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208048" "05408" "00271440" "00006" "Familial, autosomal dominant" "" "mean age onset 17.7y (12-23y); myoclonus/cortical tremor 3/3, tonic-clonic seizures 1/3, focal seizures 0/3; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 0/3; ataxia 0/3" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208049" "05408" "00271441" "00006" "Familial, autosomal dominant" "" "mean age onset 16.3y (15-18y); myoclonus/cortical tremor 3/3, tonic-clonic seizures 3/3, focal seizures 0/3; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 0/3; ataxia 0/3" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208050" "05408" "00271442" "00006" "Familial, autosomal dominant" "" "mean age onset 30.3y (18-49y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 2/4; intellectual disability 0/4; dementia 0/4; drug resistant epilepsy 2/4; ataxia 0/4" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208051" "05408" "00271443" "00006" "Familial, autosomal dominant" "" "mean age onset 21y (12-32y); myoclonus/cortical tremor 10/10, tonic-clonic seizures 4/10, focal seizures 2/10; intellectual disability 0/10; dementia 0/8 (2 deceased unknown); drug resistant epilepsy 1/10; ataxia 0/10" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208052" "05408" "00271444" "00006" "Familial, autosomal dominant" "" "mean age onset 21y (21y); myoclonus/cortical tremor 2/2, tonic-clonic seizures 2/2, focal seizures 0/2; intellectual disability 0/2; dementia 0/2; drug resistant epilepsy 0/2; ataxia 0/2" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208053" "05408" "00271445" "00006" "Familial, autosomal dominant" "" "mean age onset 15.8y (11-20y); myoclonus/cortical tremor 15/15, tonic-clonic seizures 7/15, focal seizures 1/15; intellectual disability 0/15; dementia 0/15; drug resistant epilepsy 0/15; ataxia 0/15lower limb myoclonus 1/15" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208054" "05408" "00271446" "00006" "Familial, autosomal dominant" "" "mean age onset 41y (30-60y); myoclonus/cortical tremor 13/13, tonic-clonic seizures 8/13, focal seizures 0/13; intellectual disability 0/10; dementia 0/10; drug resistant epilepsy 0/10; ataxia 0/10" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208055" "05408" "00271447" "00006" "Familial, autosomal dominant" "" "mean age onset 20y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 1/2, focal seizures 0/2; migraine 1/2" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208056" "05408" "00271448" "00006" "Familial, autosomal dominant" "" "mean age onset 20y; myoclonus/cortical tremor 1/1, tonic-clonic seizures 1/1, focal seizures 0/1; drug resistant epilepsy; ataxia 0/1" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" "0000208057" "05408" "00271449" "00006" "Familial, autosomal dominant" "" "mean age onset 25.1y (14-39,40y); myoclonus/cortical tremor 9/10, tonic-clonic seizures 4/10, focal seizures 1/10; intellectual disability 2/10; dementia 0/10; drug resistant epilepsy 1/10; ataxia 0/10psychiatric symptoms 2/10; epileptic spasms 2/10" "" "" "" "" "" "" "" "FAME2" "familial adult myoclonic epilepsy" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000272578" "00271426" "1" "00006" "00006" "2019-12-19 13:05:21" "" "" "PCRrp" "DNA" "" "" "0000272580" "00271428" "1" "00006" "00006" "2019-12-19 13:57:03" "00006" "2019-12-19 14:59:02" "PCRrp;SEQ-ON;SEQ-PB" "DNA" "" "" "0000272581" "00271429" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272582" "00271430" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272583" "00271431" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272584" "00271432" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272585" "00271433" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272586" "00271434" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272587" "00271435" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272588" "00271436" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272589" "00271437" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272590" "00271438" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272591" "00271439" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272592" "00271440" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272593" "00271441" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272594" "00271442" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272595" "00271443" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272596" "00271444" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272597" "00271445" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272598" "00271446" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272599" "00271447" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272600" "00271448" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" "0000272601" "00271449" "1" "00006" "00006" "2019-12-19 13:57:03" "" "" "PCRrp" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000272578" "STARD7" "0000272580" "STARD7" "0000272581" "STARD7" "0000272582" "STARD7" "0000272583" "STARD7" "0000272584" "STARD7" "0000272585" "STARD7" "0000272586" "STARD7" "0000272587" "STARD7" "0000272588" "STARD7" "0000272589" "STARD7" "0000272590" "STARD7" "0000272591" "STARD7" "0000272592" "STARD7" "0000272593" "STARD7" "0000272594" "STARD7" "0000272595" "STARD7" "0000272596" "STARD7" "0000272597" "STARD7" "0000272598" "STARD7" "0000272599" "STARD7" "0000272600" "STARD7" "0000272601" "STARD7" ## 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 = 24 "{{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}}" "0000626508" "1" "90" "2" "0" "0" "" "0" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626509" "1" "90" "2" "0" "0" "" "0" "00006" "STARD7_000003" "g.96862805_96862859AAAAT[(387_390)]GAAAT[(274_345)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(387_390)]GAAAT[(274_345)]" "" "pathogenic (dominant)" "" "0000626510" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626511" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626512" "1" "90" "2" "96862805" "96862859" "" "0" "00006" "STARD7_000002" "g.96862805_96862859AAAAT[340]GAAAT[588]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[340]GAAAT[588]" "" "pathogenic (dominant)" "" "0000626513" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626514" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626515" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626516" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626517" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626518" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626519" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626520" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626521" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626522" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626523" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626524" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626525" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626526" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626527" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626528" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626529" "1" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0000626530" "21" "90" "2" "" "" "" "" "00006" "STARD7_000001" "g.96862805_96862859AAAAT[(20_?)]GAAAT[(20_?)]" "" "{PMID:Corbett 2019:31664034}" "" "ATTTT/ATTTC expansion" "" "Germline" "yes" "" "0" "" "" "g.96197067_96197121AAAAT[(20_?)]GAAAT[(20_?)]" "" "pathogenic (dominant)" "" "0001033533" "0" "50" "2" "96873914" "96873914" "subst" "0" "01804" "STARD7_000004" "g.96873914C>A" "" "" "" "STARD7(NM_020151.4):c.259G>T (p.(Glu87*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STARD7 ## Count = 24 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000626508" "00020430" "90" "0" "0" "0" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626509" "00020430" "90" "0" "0" "0" "0" "c.291-1572_291-1518ATTTT[(387_390)]ATTTC[(274_345)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626510" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626511" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626512" "00020430" "90" "291" "-1572" "291" "-1518" "c.291-1572_291-1518ATTTT[340]ATTTC[588]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626513" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626514" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626515" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626516" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626517" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626518" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626519" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626520" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626521" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626522" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626523" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626524" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626525" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626526" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626527" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626528" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626529" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0000626530" "00020430" "90" "" "0" "" "0" "c.291-1572_291-1518ATTTT[(20_?)]ATTTC[(20_?)]" "r.(=)" "p.(=)" "1i" "ATTTT[exp]ATTTC[exp]" "0001033533" "00020430" "50" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Glu87*)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000272578" "0000626508" "0000272580" "0000626509" "0000272581" "0000626510" "0000272582" "0000626511" "0000272583" "0000626512" "0000272584" "0000626513" "0000272585" "0000626514" "0000272586" "0000626515" "0000272587" "0000626516" "0000272588" "0000626517" "0000272589" "0000626518" "0000272590" "0000626519" "0000272591" "0000626520" "0000272592" "0000626521" "0000272593" "0000626522" "0000272594" "0000626523" "0000272595" "0000626524" "0000272596" "0000626525" "0000272597" "0000626526" "0000272598" "0000626527" "0000272599" "0000626528" "0000272600" "0000626529" "0000272601" "0000626530"