### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RGS12) # 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}}" "RGS12" "regulator of G-protein signaling 12" "4" "p16.3" "unknown" "NG_029903.1" "UD_132118811056" "" "http://www.LOVD.nl/RGS12" "" "1" "9994" "6002" "602512" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RGS12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-10-07 14:35:03" "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}}" "00024175" "RGS12" "transcript variant 1" "001" "NM_198229.2" "" "NP_937872.1" "" "" "" "-904" "4573" "4344" "3315874" "3441640" "00006" "2016-10-07 14:36:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01371" "HD" "Huntington disease (HD)" "AD" "143100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00050680" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00065123" "" "" "" "2" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "2-generation family, 2-affected sisters, PatV1[EG01]" "F" "yes" "Egypt" ">24y" "0" "" "Combiantion of valproate and carbamazepine" "" "26996948-FamPatV1[EG01]" "00065125" "" "" "00065123" "1" "" "01604" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "PatV5[EG02]" "F" "yes" "Egypt" ">14y" "0" "" "Combiantion of valproate and topiramate" "" "26996948-FamPatV5[EG02]" "00081364" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081365" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081376" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081379" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081393" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081396" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081400" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081401" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081409" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081410" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081411" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081412" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081413" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081414" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081417" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081418" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" "00081419" "" "" "" "1" "" "01706" "Kay, submitted EJHG" "" "" "" "Peru" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00050680" "00198" "00065123" "00139" "00065125" "00139" "00081364" "01371" "00081365" "01371" "00081376" "01371" "00081379" "01371" "00081393" "01371" "00081396" "01371" "00081400" "01371" "00081401" "01371" "00081409" "01371" "00081410" "01371" "00081411" "01371" "00081412" "01371" "00081413" "01371" "00081414" "01371" "00081417" "01371" "00081418" "01371" "00081419" "01371" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01371 ## Count = 20 "{{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}}" "0000037292" "00198" "00050680" "00006" "Unknown" "" "intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000051228" "00139" "00065123" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "" "" "4m" "" "" "" "" "" "" "" "" "0000051230" "00139" "00065125" "01604" "Familial, autosomal recessive" "" "seizures (HP:0001250), thin corpus calosum (HP:0002079), asymmetry of the lateral ventricles (HP:?), hypotonia (HP:0001252), hyporeflexia (HP:0001265), joint laxity (HP:0001388), difficulty walking (HP:0002355), dysmorphic features (HP:0001999); profound intellectual disability (HP:0002187); motor delay (HP:0001270); no speech delay (-HP:0000750)" "00y04m" "" "" "" "" "" "" "" "" "" "" "0000060927" "01371" "00081364" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060928" "01371" "00081365" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060939" "01371" "00081376" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060942" "01371" "00081379" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060956" "01371" "00081393" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060959" "01371" "00081396" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060963" "01371" "00081400" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060964" "01371" "00081401" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060972" "01371" "00081409" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060973" "01371" "00081410" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060974" "01371" "00081411" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060975" "01371" "00081412" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060976" "01371" "00081413" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060977" "01371" "00081414" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060980" "01371" "00081417" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060981" "01371" "00081418" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060982" "01371" "00081419" "01706" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050625" "00050680" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065274" "00065123" "1" "01604" "01604" "2016-05-19 12:32:45" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065276" "00065125" "1" "01604" "01604" "2016-05-19 13:00:15" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081477" "00081364" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081478" "00081365" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081489" "00081376" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081492" "00081379" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081506" "00081393" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081509" "00081396" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081513" "00081400" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081514" "00081401" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081522" "00081409" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081523" "00081410" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081524" "00081411" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081525" "00081412" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081526" "00081413" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081527" "00081414" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081530" "00081417" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081531" "00081418" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" "0000081532" "00081419" "1" "01706" "00006" "2016-10-04 07:17:53" "" "" "SEQ;arraySNP;PCR" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000065274" "PIGG" "0000065276" "PIGG" "0000081477" "HTT" "0000081478" "HTT" "0000081489" "HTT" "0000081492" "HTT" "0000081506" "HTT" "0000081509" "HTT" "0000081513" "HTT" "0000081514" "HTT" "0000081522" "HTT" "0000081523" "HTT" "0000081524" "HTT" "0000081525" "HTT" "0000081526" "HTT" "0000081527" "HTT" "0000081530" "HTT" "0000081531" "HTT" "0000081532" "HTT" ## 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 = 65 "{{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}}" "0000079605" "0" "90" "4" "71552" "3375637" "del" "0" "00006" "IDUA_000000" "g.71552_3375637del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000134520" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134521" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1b EUR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134522" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "B1a" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134523" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134524" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134525" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A5b" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134526" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134527" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134528" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134529" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134530" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134531" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134532" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134533" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134534" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134535" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1axC1 AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134536" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1ax AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134537" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134538" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134539" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134540" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134541" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134542" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134543" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134544" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134545" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134546" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A2bx" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134547" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "B2b" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134548" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A5b" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134549" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134550" "2" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1axC1 AMR-X" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134551" "1" "11" "4" "3409359" "3409359" "subst" "0" "01706" "RGS12_000001" "g.3409359A>G" "" "Kay, submitted EJHG" "" "" "A1a AMR" "Germline" "" "rs1730768" "0" "" "" "g.3407632A>G" "" "benign" "" "0000134565" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134566" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "B1a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134567" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134568" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A5b" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134569" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A2a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134570" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134571" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134572" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134573" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A1axC1 AMR" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134574" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A1ax AMR" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134575" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A2a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134576" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134577" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134578" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A5a" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134579" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134580" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134581" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "C1" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134582" "1" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A2bx" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134583" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "B2b" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134584" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A5b" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000134585" "2" "11" "4" "3419840" "3419840" "subst" "0" "01706" "RGS12_000002" "g.3419840G>A" "" "Kay, submitted EJHG" "" "" "A1axC1 AMR-X" "Germline" "" "rs12641989" "0" "" "" "g.3418113G>A" "" "benign" "" "0000256126" "0" "50" "4" "3430406" "3430406" "subst" "0.000290135" "01943" "RGS12_000006" "g.3430406A>T" "" "" "" "RGS12(NM_002926.3):c.3533A>T (p.K1178I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3428679A>T" "" "VUS" "" "0000307060" "0" "50" "4" "3318418" "3318418" "subst" "5.68588E-5" "01943" "RGS12_000005" "g.3318418C>T" "" "" "" "RGS12(NM_002926.3):c.521C>T (p.S174L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3316691C>T" "" "VUS" "" "0000329837" "0" "50" "4" "3344709" "3344709" "subst" "0.000101525" "01804" "RGS12_000007" "g.3344709C>T" "" "" "" "RGS12(NM_002926.3):c.1927C>T (p.(Arg643Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3342982C>T" "" "VUS" "" "0000329839" "0" "50" "4" "3446058" "3446058" "subst" "0.00335664" "01804" "HGFAC_000001" "g.3446058C>T" "" "" "" "HGFAC(NM_001528.2):c.619C>T (p.(Arg207Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3444331C>T" "" "VUS" "" "0000336587" "3" "50" "4" "3318085" "3318085" "subst" "7.72276E-5" "00006" "RGS12_000003" "g.3318085A>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "rs537451677" "0" "" "" "g.3316358A>T" "" "VUS" "" "0000336588" "3" "50" "4" "3318085" "3318085" "subst" "7.72276E-5" "00006" "RGS12_000003" "g.3318085A>T" "" "{PMID:Makrythanasis 2016:26996948}, {DOI:Makrythanasis 2016:10.1016/j.ajhg.2016.02.007}" "" "" "" "Germline" "" "rs537451677" "0" "" "" "g.3316358A>T" "" "VUS" "" "0000522483" "0" "30" "4" "3443769" "3443769" "subst" "0.012322" "01804" "HGFAC_000003" "g.3443769C>T" "" "" "" "HGFAC(NM_001528.2):c.41C>T (p.(Pro14Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3442042C>T" "" "likely benign" "" "0000994270" "0" "30" "4" "3444477" "3444477" "subst" "0.00065716" "01804" "HGFAC_000005" "g.3444477G>C" "" "" "" "HGFAC(NM_001528.2):c.136G>C (p.(Glu46Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994271" "0" "50" "4" "3445823" "3445823" "subst" "5.34096E-5" "01804" "HGFAC_000006" "g.3445823C>A" "" "" "" "HGFAC(NM_001528.2):c.533C>A (p.(Thr178Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034535" "0" "30" "4" "3444846" "3444846" "subst" "0" "01804" "HGFAC_000007" "g.3444846C>T" "" "" "" "HGFAC(NM_001528.4):c.368C>T (p.(Thr123Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034536" "0" "50" "4" "3445784" "3445784" "subst" "1.68081E-5" "01804" "HGFAC_000008" "g.3445784C>T" "" "" "" "HGFAC(NM_001528.4):c.494C>T (p.(Ala165Val))" "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 RGS12 ## Count = 65 "{{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}}" "0000079605" "00024175" "00" "-3245226" "0" "1999" "-12506" "c.-3245226_1999-12506del" "r.(=)" "p.(=)" "" "0000134520" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134521" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134522" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134523" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134524" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134525" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134526" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134527" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134528" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134529" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134530" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134531" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134532" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134533" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134534" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134535" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134536" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134537" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134538" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134539" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134540" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134541" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134542" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134543" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134544" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134545" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134546" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134547" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134548" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134549" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134550" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134551" "00024175" "00" "2021" "-6440" "2021" "-6440" "c.2021-6440A>G" "r.(=)" "p.(=)" "" "0000134565" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134566" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134567" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134568" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134569" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134570" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134571" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134572" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134573" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134574" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134575" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134576" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134577" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134578" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134579" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134580" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134581" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134582" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134583" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134584" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000134585" "00024175" "00" "2761" "572" "2761" "572" "c.2761+572G>A" "r.(=)" "p.(=)" "" "0000256126" "00024175" "50" "3533" "0" "3533" "0" "c.3533A>T" "r.(?)" "p.(Lys1178Ile)" "" "0000307060" "00024175" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ser174Leu)" "" "0000329837" "00024175" "50" "1927" "0" "1927" "0" "c.1927C>T" "r.(?)" "p.(Arg643Cys)" "" "0000329839" "00024175" "50" "8991" "0" "8991" "0" "c.*4647C>T" "r.(=)" "p.(=)" "" "0000336587" "00024175" "50" "188" "0" "188" "0" "c.188A>T" "r.(?)" "p.(Gln63Leu)" "2" "0000336588" "00024175" "50" "188" "0" "188" "0" "c.188A>T" "r.(?)" "p.(Gln63Leu)" "2" "0000522483" "00024175" "30" "6702" "0" "6702" "0" "c.*2358C>T" "r.(=)" "p.(=)" "" "0000994270" "00024175" "30" "7410" "0" "7410" "0" "c.*3066G>C" "r.(=)" "p.(=)" "" "0000994271" "00024175" "50" "8756" "0" "8756" "0" "c.*4412C>A" "r.(=)" "p.(=)" "" "0001034535" "00024175" "30" "7779" "0" "7779" "0" "c.*3435C>T" "r.(=)" "p.(=)" "" "0001034536" "00024175" "50" "8717" "0" "8717" "0" "c.*4373C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000050625" "0000079605" "0000065274" "0000336588" "0000065276" "0000336587" "0000081477" "0000134520" "0000081477" "0000134521" "0000081477" "0000134565" "0000081478" "0000134522" "0000081478" "0000134523" "0000081478" "0000134566" "0000081489" "0000134524" "0000081489" "0000134525" "0000081489" "0000134567" "0000081489" "0000134568" "0000081492" "0000134526" "0000081492" "0000134569" "0000081492" "0000134570" "0000081506" "0000134527" "0000081506" "0000134528" "0000081506" "0000134571" "0000081509" "0000134529" "0000081509" "0000134530" "0000081513" "0000134531" "0000081513" "0000134532" "0000081514" "0000134533" "0000081514" "0000134534" "0000081514" "0000134572" "0000081522" "0000134535" "0000081522" "0000134536" "0000081522" "0000134573" "0000081522" "0000134574" "0000081523" "0000134537" "0000081523" "0000134575" "0000081523" "0000134576" "0000081524" "0000134538" "0000081524" "0000134539" "0000081524" "0000134577" "0000081525" "0000134540" "0000081525" "0000134541" "0000081525" "0000134578" "0000081526" "0000134542" "0000081526" "0000134543" "0000081526" "0000134579" "0000081526" "0000134580" "0000081527" "0000134544" "0000081527" "0000134545" "0000081527" "0000134581" "0000081530" "0000134546" "0000081530" "0000134547" "0000081530" "0000134582" "0000081530" "0000134583" "0000081531" "0000134548" "0000081531" "0000134549" "0000081531" "0000134584" "0000081532" "0000134550" "0000081532" "0000134551" "0000081532" "0000134585"