### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RORA) # 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}}" "RORA" "RAR-related orphan receptor A" "15" "q21-q22" "unknown" "NG_029246.1" "UD_132119091136" "" "https://www.LOVD.nl/RORA" "" "1" "10258" "6095" "600825" "1" "1" "1" "1" "" "" "g" "https://databases.lovd.nl/shared/refseq/RORA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-05 07:13:19" "00000" "2026-01-20 18:57:21" ## 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}}" "00025285" "RORA" "transcript variant 1" "001" "NM_134261.2" "" "NP_599023.1" "" "" "" "-85" "10743" "1572" "61521502" "60780483" "00006" "2018-06-05 07:12:32" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06272" "IDDECA" "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia" "AD" "618060" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RORA" "06272" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00164678" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "adopted child" "F" "no" "United States" "" "0" "" "" "" "29656859-Pat1" "00164679" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Estonia" "" "0" "" "" "" "29656859-Pat2" "00164680" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "France" "" "0" "" "" "" "29656859-Pat3" "00164681" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "29656859-Pat4" "00164682" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "United States" "" "0" "" "" "" "29656859-Pat5" "00164683" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "France" "" "0" "" "" "" "29656859-Pat6" "00164684" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29656859-Pat7" "00164685" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Germany" "" "0" "" "" "" "29656859-Pat8" "00164686" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29656859-Pat9" "00164687" "" "" "" "4" "" "00006" "{PMID:Guissart 2018:29656859}" "3-generation family, 4 affecteds (3F, M)" "F" "no" "Belgium" "" "0" "" "" "" "29656859-Pat10A" "00164688" "" "" "00164687" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "son" "M" "no" "Belgium" "" "0" "" "" "" "29656860-Pat10B" "00164689" "" "" "00164687" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "daughter" "F" "no" "Belgium" "" "0" "" "" "" "29656861-Pat10C" "00164690" "" "" "00164687" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "grand daughter" "F" "no" "Belgium" "" "0" "" "" "" "29656862-Pat10D" "00164691" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "France" "" "0" "" "" "" "29656859-Pat11" "00164692" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Denmark" "" "0" "" "" "" "29656859-Pat12" "00164693" "" "" "" "1" "" "00006" "{PMID:Guissart 2018:29656859}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Denmark" "" "0" "" "" "" "29656859-Pat13" "00269608" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00436154" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "267928" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00164678" "00198" "00164679" "00198" "00164680" "00198" "00164681" "00198" "00164682" "00198" "00164683" "00198" "00164684" "00198" "00164685" "00198" "00164686" "00198" "00164687" "00198" "00164688" "00198" "00164689" "00198" "00164690" "00198" "00164691" "00198" "00164692" "00198" "00164693" "00198" "00269608" "00198" "00436154" "06272" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06272 ## Count = 18 "{{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}}" "0000129715" "00198" "00164678" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129716" "00198" "00164679" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129717" "00198" "00164680" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129718" "00198" "00164681" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129719" "00198" "00164682" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129720" "00198" "00164683" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129721" "00198" "00164684" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129722" "00198" "00164685" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129723" "00198" "00164686" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129724" "00198" "00164687" "00006" "Familial, autosomal dominant" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129725" "00198" "00164688" "00006" "Familial, autosomal dominant" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129726" "00198" "00164689" "00006" "Familial, autosomal dominant" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129727" "00198" "00164690" "00006" "Familial, autosomal dominant" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129728" "00198" "00164691" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129729" "00198" "00164692" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000129730" "00198" "00164693" "00006" "Isolated (sporadic)" "" "see paper; … *" "" "" "" "" "" "" "" "" "" "" "" "0000207412" "00198" "00269608" "01807" "Unknown" "" "Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "0000326335" "06272" "00436154" "01164" "Isolated (sporadic)" "06y" "Intellectual disability, Motor delay, Delayed speech and language development, Global developmental delay, Joint hypermobility, Abnormality of the face" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165544" "00164678" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165545" "00164679" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165546" "00164680" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:33:26" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000165547" "00164681" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165548" "00164682" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165549" "00164683" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165550" "00164684" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165551" "00164685" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165552" "00164686" "1" "00006" "00006" "2018-06-04 23:10:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165553" "00164687" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:20:32" "arrayCGH" "DNA" "" "WES" "0000165554" "00164688" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:24:58" "arrayCGH" "DNA" "" "WES" "0000165555" "00164689" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:26:27" "arrayCGH" "DNA" "" "WES" "0000165556" "00164690" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:27:40" "arrayCGH" "DNA" "" "WES" "0000165557" "00164691" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:05:53" "arrayCGH" "DNA" "" "WES" "0000165558" "00164692" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 08:10:18" "arrayCGH" "DNA" "" "WES" "0000165559" "00164693" "1" "00006" "00006" "2018-06-04 23:10:24" "00006" "2018-06-05 07:59:44" "arrayCGH" "DNA" "" "" "0000270764" "00269608" "1" "01807" "01807" "2019-12-03 10:08:00" "" "" "SEQ" "DNA" "" "" "0000437637" "00436154" "1" "01164" "01164" "2023-08-29 16:57:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000165544" "RORA" "0000165545" "RORA" "0000165546" "RORA" "0000165547" "RORA" "0000165548" "RORA" "0000165549" "RORA" "0000165550" "RORA" "0000165551" "RORA" "0000165552" "RORA" "0000165553" "RORA" "0000165554" "RORA" "0000165555" "RORA" "0000165556" "RORA" "0000165557" "RORA" "0000165558" "RORA" "0000165559" "RORA" "0000437637" "RORA" ## 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 = 57 "{{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}}" "0000369262" "0" "90" "15" "60823978" "60823978" "subst" "0" "00006" "RORA_000001" "g.60823978C>G" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60531779C>G" "" "pathogenic" "" "0000369263" "0" "90" "15" "60823972" "60823972" "subst" "0" "00006" "RORA_000002" "g.60823972C>G" "" "{PMID:Guissart 2018:29656859}" "" "" "variant has dominant toxic effects" "De novo" "" "" "0" "" "" "g.60531773C>G" "" "pathogenic" "" "0000369264" "0" "90" "15" "60823966" "60823966" "subst" "0" "00006" "RORA_000003" "g.60823966T>C" "" "{PMID:Guissart 2018:29656859}" "" "" "variant has dominant toxic effects; variant does not seem to affect splicing" "De novo" "" "" "0" "" "" "g.60531767T>C" "" "pathogenic" "" "0000369265" "0" "90" "15" "60803821" "60803821" "subst" "0" "00006" "RORA_000004" "g.60803821C>T" "" "{PMID:Guissart 2018:29656859}" "" "" "mosaicism 0.20 in blood" "Somatic" "" "" "0" "" "" "g.60511622C>T" "" "pathogenic" "" "0000369266" "0" "90" "15" "60803443" "60803444" "del" "0" "00006" "RORA_000005" "g.60803443_60803444del" "" "{PMID:Guissart 2018:29656859}" "" "c.804_805delGT" "" "De novo" "" "" "0" "" "" "g.60511244_60511245del" "" "pathogenic" "" "0000369267" "0" "90" "15" "60795790" "60795790" "del" "0" "00006" "RORA_000006" "g.60795790del" "" "{PMID:Guissart 2018:29656859}" "" "c.1019delG" "" "De novo" "" "" "0" "" "" "g.60503591del" "" "pathogenic" "" "0000369268" "0" "90" "15" "60793227" "60793227" "subst" "0" "00006" "RORA_000007" "g.60793227T>G" "" "{PMID:Guissart 2018:29656859}" "" "" "" "De novo" "" "" "0" "" "" "g.60501028T>G" "" "pathogenic" "" "0000369269" "0" "90" "15" "60792113" "60792113" "subst" "0" "00006" "RORA_000008" "g.60792113C>T" "" "{PMID:Guissart 2018:29656859}" "" "" "loss of function variant" "De novo" "" "" "0" "" "" "g.60499914C>T" "" "pathogenic" "" "0000369270" "0" "90" "15" "60789728" "60789728" "subst" "0" "00006" "RORA_000009" "g.60789728G>A" "" "{PMID:Guissart 2018:29656859}" "" "" "" "De novo" "" "" "0" "" "" "g.60497529G>A" "" "pathogenic" "" "0000369277" "0" "90" "15" "60797691" "60860668" "dup" "0" "00006" "RORA_000010" "g.(60795867_60797691)_(60860668_60970855)dup" "" "{PMID:Guissart 2018:29656859}" "" "ex3-6 dup" "~63 kb duplication" "De novo" "" "" "0" "" "15q22.2 (60797691-60860668)x3" "" "" "pathogenic" "" "0000369278" "0" "90" "15" "58622268" "62320616" "del" "0" "00006" "RORA_000011" "g.(58000000_58622268)_(62320616_63000000)del" "" "{PMID:Guissart 2018:29656859}" "" "" "~3.7 Mb deletion impacting 17 genes" "De novo" "" "" "0" "" "15q21.3q22.2 (58622268-62320616)x1" "" "" "pathogenic" "" "0000369279" "0" "90" "15" "60809984" "60837029" "del" "0" "00006" "RORA_000012" "g.(60806957_60809984)_(60837029_60970855)del" "" "{PMID:Guissart 2018:29656859}" "" "" "~27kb deletion encompassing exon 3" "De novo" "" "" "0" "" "15q22.2 (60809984-60837029)x1" "" "" "pathogenic" "" "0000369280" "0" "90" "15" "59641986" "61104231" "del" "0" "00006" "RORA_000011" "g.(59500000_59641986)_(61104231_61200000)del" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "15q22.2 (59641986-61104231)x1" "" "" "pathogenic" "" "0000369281" "21" "90" "15" "59641986" "61104231" "del" "0" "00006" "RORA_000011" "g.(59500000_59641986)_(61104231_61200000)del" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline" "" "" "0" "" "15q22.2 (59641986-61104231)x1" "" "" "pathogenic" "" "0000369282" "21" "90" "15" "59641986" "61104231" "del" "0" "00006" "RORA_000011" "g.(59500000_59641986)_(61104231_61200000)del" "" "{PMID:Guissart 2018:29656859}" "" "" "" "Germline" "" "" "0" "" "15q22.2 (59641986-61104231)x1" "" "" "pathogenic" "" "0000369283" "21" "90" "15" "59641986" "61104231" "del" "0" "00006" "RORA_000011" "g.(59500000_59641986)_(61104231_61200000)del" "" "{PMID:Guissart 2018:29656859}" "" "" "~1.5Mb deletion" "Germline" "" "" "0" "" "15q22.2 (59641986-61104231)x1" "" "" "pathogenic" "" "0000554960" "0" "70" "15" "60795791" "60795791" "subst" "0" "02327" "RORA_000013" "g.60795791G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60503592G>A" "" "likely pathogenic" "" "0000604589" "0" "70" "15" "60797730" "60797730" "subst" "0" "01807" "RORA_000014" "g.60797730C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.60505531C>A" "" "likely pathogenic" "" "0000657620" "0" "50" "15" "60803482" "60803482" "subst" "0" "01804" "RORA_000015" "g.60803482G>A" "" "" "" "RORA(NM_002943.3):c.838C>T (p.(Pro280Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60511283G>A" "" "VUS" "" "0000680231" "0" "50" "15" "60795862" "60795862" "subst" "4.07209E-6" "02325" "RORA_000016" "g.60795862C>A" "" "" "" "RORA(NM_134260.3):c.1046G>T (p.R349L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806818" "0" "30" "15" "60792103" "60792103" "subst" "0.00136842" "01943" "RORA_000017" "g.60792103T>A" "" "" "" "RORA(NM_134260.2):c.1494A>T (p.G498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806819" "0" "50" "15" "60803515" "60803515" "subst" "1.62423E-5" "02325" "RORA_000018" "g.60803515T>C" "" "" "" "RORA(NM_134261.3):c.730A>G (p.I244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806820" "0" "70" "15" "60803805" "60803805" "subst" "0" "02329" "RORA_000019" "g.60803805C>T" "" "" "" "RORA(NM_134260.3):c.539G>A (p.R180Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806821" "0" "70" "15" "61521321" "61521321" "subst" "0" "02327" "RORA_000020" "g.61521321G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854104" "0" "50" "15" "60803443" "60803443" "subst" "4.08077E-6" "02327" "RORA_000021" "g.60803443C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854105" "0" "50" "15" "60806875" "60806875" "subst" "0" "02325" "RORA_000022" "g.60806875T>C" "" "" "" "RORA(NM_134261.3):c.364A>G (p.R122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854106" "0" "30" "15" "61521328" "61521328" "subst" "0.00136704" "02326" "RORA_000023" "g.61521328C>T" "" "" "" "RORA(NM_134261.2):c.90G>A (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892195" "0" "90" "15" "60789728" "60789728" "subst" "0" "02327" "RORA_000009" "g.60789728G>A" "" "" "" "RORA(NM_134261.3):c.1498C>T (p.(Arg500*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914337" "0" "70" "15" "60803618" "60803619" "del" "0" "02325" "RORA_000024" "g.60803618_60803619del" "" "" "" "RORA(NM_134261.3):c.626_627delCT (p.P209Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000932980" "0" "70" "15" "60803722" "60803722" "subst" "0" "01164" "RORA_000025" "g.60803722G>A" "" "" "" "" "ACMG: PVS1, PM2_Sup" "Germline" "?" "" "" "" "" "g.60511523G>A" "" "likely pathogenic (dominant)" "ACMG" "0000981322" "0" "90" "15" "60789728" "60789728" "subst" "0" "01804" "RORA_000009" "g.60789728G>A" "" "" "" "RORA(NM_134261.3):c.1498C>T (p.(Arg500*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981323" "0" "70" "15" "60789741" "60789741" "subst" "0" "02329" "RORA_000026" "g.60789741G>T" "" "" "" "RORA(NM_134260.3):c.1584C>A (p.Y528*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981324" "0" "50" "15" "60792153" "60792153" "subst" "2.44296E-5" "02325" "RORA_000027" "g.60792153T>C" "" "" "" "RORA(NM_134261.3):c.1345A>G (p.I449V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981325" "0" "30" "15" "61288550" "61288550" "subst" "0" "01804" "RORA_000028" "g.61288550C>T" "" "" "" "RORA(NM_134261.3):c.166+232702G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981326" "0" "30" "15" "61390592" "61390592" "subst" "0" "01804" "RORA_000029" "g.61390592G>A" "" "" "" "RORA(NM_134261.3):c.166+130660C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981327" "0" "30" "15" "61521287" "61521287" "subst" "0" "01804" "RORA_000030" "g.61521287G>A" "" "" "" "RORA(NM_134261.3):c.131C>T (p.(Pro44Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001541" "0" "30" "15" "60789725" "60789725" "subst" "0" "01804" "RORA_000031" "g.60789725G>A" "" "" "" "RORA(NM_134261.2):c.1501C>T (p.(Leu501Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001542" "0" "50" "15" "60795787" "60795787" "subst" "0" "01804" "RORA_000032" "g.60795787A>G" "" "" "" "RORA(NM_134261.2):c.1022T>C (p.(Ile341Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001543" "0" "50" "15" "60806883" "60806883" "subst" "0" "01804" "RORA_000033" "g.60806883C>T" "" "" "" "RORA(NM_134261.2):c.356G>A (p.(Arg119Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001544" "0" "30" "15" "60806964" "60806964" "subst" "0.000725252" "01804" "RORA_000034" "g.60806964A>G" "" "" "" "RORA(NM_134261.2):c.283-8T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001545" "0" "50" "15" "60850468" "60850468" "subst" "0" "01804" "RORA_000035" "g.60850468A>C" "" "" "" "RORA(NM_134260.2):c.175T>G (p.(Cys59Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001546" "0" "50" "15" "60850470" "60850471" "del" "0" "01804" "RORA_000036" "g.60850470_60850471del" "" "" "" "RORA(NM_134260.2):c.172_173delCA (p.(Gln58fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001547" "0" "30" "15" "60850477" "60850477" "subst" "2.03663E-5" "01804" "RORA_000037" "g.60850477G>T" "" "" "" "RORA(NM_134260.2):c.166C>A (p.(Leu56Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001548" "0" "30" "15" "60919476" "60919476" "subst" "4.06845E-6" "01804" "RORA_000038" "g.60919476A>G" "" "" "" "RORA(NM_134260.2):c.98T>C (p.(Met33Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001549" "0" "30" "15" "60919513" "60919513" "subst" "8.12453E-6" "01804" "RORA_000039" "g.60919513T>A" "" "" "" "RORA(NM_002943.4):c.61A>T (p.(Ile21Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001550" "0" "30" "15" "61521356" "61521356" "subst" "0" "01804" "RORA_000040" "g.61521356T>G" "" "" "" "RORA(NM_134261.2):c.62A>C (p.(Asp21Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026474" "0" "50" "15" "60795784" "60795784" "subst" "0" "02329" "RORA_000041" "g.60795784T>G" "" "" "" "RORA(NM_134261.3):c.1025A>C (p.D342A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040475" "0" "30" "15" "60803497" "60803497" "subst" "2.43659E-5" "01804" "RORA_000042" "g.60803497C>G" "" "" "" "RORA(NM_134261.3):c.748G>C (p.(Ala250Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040476" "0" "30" "15" "60806851" "60806851" "subst" "0" "01804" "RORA_000043" "g.60806851A>G" "" "" "" "RORA(NM_134261.3):c.388T>C (p.(Leu130=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040477" "0" "30" "15" "60834823" "60834823" "subst" "0" "01804" "RORA_000044" "g.60834823A>G" "" "" "" "RORA(NM_134261.3):c.197-10773T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040478" "0" "30" "15" "60841185" "60841185" "subst" "0" "01804" "RORA_000045" "g.60841185C>G" "" "" "" "RORA(NM_134261.3):c.197-17135G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040479" "0" "30" "15" "60907481" "60907481" "subst" "0" "01804" "RORA_000046" "g.60907481T>C" "" "" "" "RORA(NM_134261.3):c.196+63375A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040480" "0" "30" "15" "61352187" "61352187" "subst" "0" "01804" "RORA_000047" "g.61352187G>A" "" "" "" "RORA(NM_134261.3):c.166+169065C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055148" "0" "30" "15" "60789773" "60789773" "subst" "1.62848E-5" "01804" "RORA_000048" "g.60789773T>C" "" "" "" "RORA(NM_134261.3):c.1453A>G (p.(Thr485Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055149" "0" "30" "15" "60884614" "60884614" "subst" "0" "01804" "RORA_000049" "g.60884614C>A" "" "" "" "RORA(NM_134262.3):c.3G>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001066233" "0" "50" "15" "60789673" "60789673" "subst" "4.06517E-6" "02325" "RORA_000050" "g.60789673G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066234" "0" "50" "15" "60850426" "60850426" "subst" "0" "02325" "RORA_000051" "g.60850426A>G" "" "" "" "" "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 RORA ## Count = 57 "{{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}}" "0000369262" "00025285" "90" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Cys90Ser)" "" "0000369263" "00025285" "90" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Gly92Ala)" "" "0000369264" "00025285" "90" "281" "0" "281" "0" "c.281A>G" "r.281a>g" "p.Lys94Arg" "3" "0000369265" "00025285" "90" "425" "-1" "425" "-1" "c.425-1G>A" "r.spl" "p.?" "" "0000369266" "00025285" "90" "804" "0" "805" "0" "c.804_805del" "r.(?)" "p.(Ser269Hisfs*13)" "" "0000369267" "00025285" "90" "1019" "0" "1019" "0" "c.1019del" "r.(?)" "p.(Arg340Profs*17)" "" "0000369268" "00025285" "90" "1225" "0" "1225" "0" "c.1225A>C" "r.(?)" "p.(Ser409Arg)" "" "0000369269" "00025285" "90" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Arg462Gln)" "" "0000369270" "00025285" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500*)" "" "0000369277" "00025285" "90" "197" "-36618" "942" "16" "c.(196+1_197-36618)_(942+16_943-1)dup" "r.?" "p.?" "2i_6i" "0000369278" "00025285" "90" "-1" "0" "1573" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000369279" "00025285" "90" "197" "-12979" "283" "-3028" "c.(196+1_197-12979)_(283-3028_283-1)del" "r.?" "p.?" "2i_3i" "0000369280" "00025285" "90" "-1" "0" "1573" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000369281" "00025285" "90" "-1" "0" "1573" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000369282" "00025285" "90" "-1" "0" "1573" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000369283" "00025285" "90" "-1" "0" "1573" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_11_" "0000554960" "00025285" "70" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Arg340Cys)" "" "0000604589" "00025285" "70" "919" "0" "919" "0" "c.919G>T" "r.(?)" "p.(Glu307*)" "" "0000657620" "00025285" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Pro255Ser)" "" "0000680231" "00025285" "50" "947" "0" "947" "0" "c.947G>T" "r.(?)" "p.(Arg316Leu)" "" "0000806818" "00025285" "30" "1395" "0" "1395" "0" "c.1395A>T" "r.(?)" "p.(Gly465=)" "" "0000806819" "00025285" "50" "730" "0" "730" "0" "c.730A>G" "r.(?)" "p.(Ile244Val)" "" "0000806820" "00025285" "70" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147Gln)" "" "0000806821" "00025285" "70" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Gln33*)" "" "0000854104" "00025285" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Met)" "" "0000854105" "00025285" "50" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Arg122Gly)" "" "0000854106" "00025285" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Pro30=)" "" "0000892195" "00025285" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500*)" "" "0000914337" "00025285" "70" "626" "0" "627" "0" "c.626_627del" "r.(?)" "p.(Pro209Argfs*4)" "" "0000932980" "00025285" "70" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Gln175*)" "" "0000981322" "00025285" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500*)" "" "0000981323" "00025285" "70" "1485" "0" "1485" "0" "c.1485C>A" "r.(?)" "p.(Tyr495*)" "" "0000981324" "00025285" "50" "1345" "0" "1345" "0" "c.1345A>G" "r.(?)" "p.(Ile449Val)" "" "0000981325" "00025285" "30" "166" "232702" "166" "232702" "c.166+232702G>A" "r.(=)" "p.(=)" "" "0000981326" "00025285" "30" "166" "130660" "166" "130660" "c.166+130660C>T" "r.(=)" "p.(=)" "" "0000981327" "00025285" "30" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Pro44Leu)" "" "0001001541" "00025285" "30" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Leu501Phe)" "" "0001001542" "00025285" "50" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Ile341Thr)" "" "0001001543" "00025285" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "0001001544" "00025285" "30" "283" "-8" "283" "-8" "c.283-8T>C" "r.(=)" "p.(=)" "" "0001001545" "00025285" "50" "197" "-26418" "197" "-26418" "c.197-26418T>G" "r.(=)" "p.(=)" "" "0001001546" "00025285" "50" "197" "-26421" "197" "-26420" "c.197-26421_197-26420del" "r.(=)" "p.(=)" "" "0001001547" "00025285" "30" "197" "-26427" "197" "-26427" "c.197-26427C>A" "r.(=)" "p.(=)" "" "0001001548" "00025285" "30" "196" "51380" "196" "51380" "c.196+51380T>C" "r.(=)" "p.(=)" "" "0001001549" "00025285" "30" "196" "51343" "196" "51343" "c.196+51343A>T" "r.(=)" "p.(=)" "" "0001001550" "00025285" "30" "62" "0" "62" "0" "c.62A>C" "r.(?)" "p.(Asp21Ala)" "" "0001026474" "00025285" "50" "1025" "0" "1025" "0" "c.1025A>C" "r.(?)" "p.(Asp342Ala)" "" "0001040475" "00025285" "30" "748" "0" "748" "0" "c.748G>C" "r.(?)" "p.(Ala250Pro)" "" "0001040476" "00025285" "30" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(=)" "" "0001040477" "00025285" "30" "197" "-10773" "197" "-10773" "c.197-10773T>C" "r.(=)" "p.(=)" "" "0001040478" "00025285" "30" "197" "-17135" "197" "-17135" "c.197-17135G>C" "r.(=)" "p.(=)" "" "0001040479" "00025285" "30" "196" "63375" "196" "63375" "c.196+63375A>G" "r.(=)" "p.(=)" "" "0001040480" "00025285" "30" "166" "169065" "166" "169065" "c.166+169065C>T" "r.(=)" "p.(=)" "" "0001055148" "00025285" "30" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Thr485Ala)" "" "0001055149" "00025285" "30" "197" "-60564" "197" "-60564" "c.197-60564G>T" "r.(=)" "p.(=)" "" "0001066233" "00025285" "50" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Ala518Val)" "" "0001066234" "00025285" "50" "197" "-26376" "197" "-26376" "c.197-26376T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000165544" "0000369262" "0000165545" "0000369263" "0000165546" "0000369264" "0000165547" "0000369265" "0000165548" "0000369266" "0000165549" "0000369267" "0000165550" "0000369268" "0000165551" "0000369269" "0000165552" "0000369270" "0000165553" "0000369280" "0000165554" "0000369281" "0000165555" "0000369282" "0000165556" "0000369283" "0000165557" "0000369278" "0000165558" "0000369279" "0000165559" "0000369277" "0000270764" "0000604589" "0000437637" "0000932980"