### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABRG2) # 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}}" "GABRG2" "gamma-aminobutyric acid (GABA) A receptor, gamma 2" "5" "q34" "unknown" "NG_009290.1" "UD_132118761196" "" "https://www.LOVD.nl/GABRG2" "" "1" "4087" "2566" "137164" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GABRG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-29 11:56:52" "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}}" "00025853" "GABRG2" "transcript variant 1" "002" "NM_198904.2" "" "NP_944494.1" "" "" "" "-358" "3599" "1428" "161494648" "161582545" "00006" "2023-09-07 15:50:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00066" "RTT" "Rett syndrome (RTT)" "XLD" "312750" "" "" "" "00008" "2012-10-31 15:08:39" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02691" "FEB8" "Febrile seizures, familial, 8" "AD" "607681" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03018" "GEFSP3" "epilepsy, generalized, with febrile seizures plus, type 3 (GEFSP-3, seizures, febrile, familial, type 8 (FEB-8))" "" "611277" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05391" "GEFSP" "epilepsy, generalized, with febrile seizures plus (GEFSP)" "" "" "" "" "" "00006" "2018-02-02 09:53:31" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05762" "EIEE74" "encephalopathy, epileptic, early infantile, type 74 (EIEE74)" "AD" "618396" "" "" "" "00006" "2020-06-06 18:57:10" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GABRG2" "02691" "GABRG2" "03018" "GABRG2" "05762" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00016324" "" "" "" "1" "" "00681" "" "Diagnosis: Febrile seizures" "F" "?" "Italy" "" "0" "" "" "" "" "00035887" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035888" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035889" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035890" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035891" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00117051" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_620:0/1:TYPICAL_RE" "00117081" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_689:0/1:TYPICAL_RE" "00117097" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_724:0/1:TYPICAL_RE" "00117100" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_728:0/1:TYPICAL_RE" "00117111" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_75:0/1:CONTROL" "00244439" "" "" "" "1" "" "01227" "" "" "" "" "(Italy)" "" "0" "" "" "" "" "00269478" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "" "" "Italy" "" "0" "" "" "" "" "00269544" "" "" "" "1" "" "00006" "{PMID:Baulac 2001:11326274}" "" "" "" "" "" "0" "" "" "" "" "00269545" "" "" "" "1" "" "00006" "{PMID:Shi 2010:20485450}" "" "" "" "" "" "0" "" "" "" "" "00269546" "" "" "" "1" "" "00006" "{PMID:Cantarín-Extremera 2011:21425109}" "" "" "" "" "" "0" "" "" "" "" "00269547" "" "" "" "1" "" "00006" "{PMID:Hirose 2006:16860540}" "" "" "" "" "" "0" "" "" "" "" "00269548" "" "" "" "1" "" "00006" "Johnston 2010, HG online" "" "" "" "" "" "0" "" "" "" "" "00269549" "" "" "" "1" "" "00006" "{PMID:Wallace 2001:11326275}" "" "" "" "" "" "0" "" "" "" "" "00269550" "" "" "" "1" "" "00006" "{PMID:Cantarín-Extremera 2011:21425109}" "" "" "" "" "" "0" "" "" "" "" "00269551" "" "" "" "1" "" "00006" "{PMID:Lachance-Touchette 2011:21714819}" "" "" "" "" "" "0" "" "" "" "" "00269552" "" "" "" "1" "" "00006" "{PMID:Harkin 2002:11748509}" "" "" "" "" "" "0" "" "" "" "" "00269553" "" "" "" "1" "" "00006" "{PMID:Audenaert 2006:16550559}" "" "" "" "" "" "0" "" "" "" "" "00269554" "" "" "" "1" "" "00006" "{PMID:Sun 2008:18566737}" "" "" "" "" "" "0" "" "" "" "" "00269555" "" "" "" "1" "" "00006" "{PMID:Kananura 2002:12117362}" "" "" "" "" "" "0" "" "" "" "" "00303103" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "T20719" "00305977" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Denmark" "" "0" "" "" "" "Pat8" "00377149" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "171730" "00412364" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "F" "" "Sweden" "" "0" "" "" "" "Fam8" "00436385" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "265369" "00438666" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0563" "00449750" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "292986" "00458108" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00016324" "00198" "00035887" "00198" "00117051" "05315" "00117081" "05315" "00117097" "05315" "00117100" "05315" "00117111" "00000" "00244439" "00066" "00269478" "00344" "00269544" "04270" "00269545" "04270" "00269546" "04270" "00269547" "04270" "00269548" "04270" "00269549" "04270" "00269550" "04270" "00269551" "04270" "00269552" "04270" "00269553" "04270" "00269554" "04270" "00269555" "04270" "00303103" "00344" "00305977" "04270" "00377149" "05391" "00412364" "05611" "00436385" "03018" "00438666" "06906" "00449750" "02691" "00458108" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00066, 00198, 00344, 02691, 03018, 04270, 05315, 05391, 05611, 05762, 06906 ## Count = 27 "{{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}}" "0000014937" "00198" "00016324" "00681" "Unknown" "" "familial febrile seizures" "" "" "" "" "" "" "" "" "" "" "" "0000092315" "05315" "00117051" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092343" "05315" "00117081" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092356" "05315" "00117097" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092359" "05315" "00117100" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000156299" "00198" "00035887" "01164" "Unknown" "" "infant epilepsy (not seizure-free), parents consanguine ,family history positive (2 sisters affected)" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207313" "00344" "00269478" "03512" "Di-genic" "" "Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000207372" "04270" "00269544" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207373" "04270" "00269545" "00006" "Unknown" "" "seizures, generalized tonic-clonic" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207374" "04270" "00269546" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207375" "04270" "00269547" "00006" "Unknown" "" "myoclonic epilepsy of infancy" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207376" "04270" "00269548" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207377" "04270" "00269549" "00006" "Unknown" "" "epilepsy, childhood absence with febrile seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207378" "04270" "00269550" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207379" "04270" "00269551" "00006" "Unknown" "" "epilepsy, idiopathic generalised" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207380" "04270" "00269552" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207381" "04270" "00269553" "00006" "Unknown" "" "febrile seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207382" "04270" "00269554" "00006" "Unknown" "" "generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000207383" "04270" "00269555" "00006" "Unknown" "" "epilepsy, childhood absence with febrile seizures" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000230187" "00344" "00303103" "00006" "Isolated (sporadic)" "2y6m" "seizures febrile seizure (8m), absence, atonic, myoclonic jerks, tonic-clonic; EEG Normal; development prior to seizures normal; Normal, regression" "" "" "" "" "" "" "" "" "" "myoclonic atonic epilepsy" "" "0000231823" "04270" "00305977" "00006" "Isolated (sporadic)" "29y" "" "" "" "" "" "" "" "" "" "" "Lennox Gastaut syndrome" "" "0000272313" "05391" "00377149" "01164" "Familial" "09y" "Generalized non-motor (absence) seizure, Generalized-onset seizure, Dialeptic seizure, Non-motor seizure; positive family history (no details provided)" "" "" "" "" "" "" "" "" "" "" "" "0000304369" "05611" "00412364" "00006" "Isolated (sporadic)" "" "mild intellectual disability, initially fever induced epilepsy, generalized tonic clonic seizures, hyperactivity, only speaks a few words, microcephaly, valgus feet, hypertelorism, asymmetric facial features , large maxilla, strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000326565" "03018" "00436385" "01164" "Isolated (sporadic)" "04y" "Epicanthus, Seizure, EEG abnormality, Focal-onset seizure, Ichthyosis" "" "" "" "" "" "" "" "" "" "" "" "0000328569" "06906" "00438666" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000338911" "02691" "00449750" "01164" "Unknown" "01y" "Seizure, Seizure precipitated by febrile infection" "" "" "" "" "" "" "" "" "" "" "" "0000346553" "05611" "00458108" "03544" "Isolated (sporadic)" "" "HP:0010864, HP:0000708, HP:0001337, \r\nHP:0001288, HP:0007272" "" "" "" "" "" "" "" "" "" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016253" "00016324" "1" "00681" "00681" "2014-03-12 14:10:28" "00006" "2014-03-14 16:36:24" "SEQ;SEQ-NG-I" "DNA" "" "" "0000035957" "00035887" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035958" "00035888" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035959" "00035889" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035960" "00035890" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035961" "00035891" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000117495" "00117111" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117526" "00117051" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117554" "00117081" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117567" "00117097" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117570" "00117100" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000245551" "00244439" "1" "01227" "01227" "2019-06-24 15:49:39" "" "" "SEQ-NG" "DNA" "blood and buccal swab" "" "0000270632" "00269478" "1" "03512" "03512" "2019-11-28 17:28:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000270698" "00269544" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270699" "00269545" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270700" "00269546" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270701" "00269547" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270702" "00269548" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270703" "00269549" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270704" "00269550" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270705" "00269551" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270706" "00269552" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270707" "00269553" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270708" "00269554" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000270709" "00269555" "1" "00006" "00006" "2019-11-29 13:32:02" "" "" "SEQ" "DNA" "" "" "0000304227" "00303103" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000307107" "00305977" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" "0000378354" "00377149" "1" "01164" "01164" "2021-07-12 14:16:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000413636" "00412364" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437868" "00436385" "1" "01164" "01164" "2023-09-06 10:49:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000440148" "00438666" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000451346" "00449750" "1" "01164" "01164" "2024-05-10 11:19:16" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000459726" "00458108" "1" "03544" "03544" "2024-12-02 11:52:42" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000016253" "GABRG2" "0000016253" "RELN" "0000035957" "GABRG2" "0000035958" "GABRG2" "0000035959" "GABRG2" "0000035960" "GABRG2" "0000035961" "GABRG2" "0000245551" "GABRG2" "0000270698" "GABRG2" "0000270699" "GABRG2" "0000270700" "GABRG2" "0000270701" "GABRG2" "0000270702" "GABRG2" "0000270703" "GABRG2" "0000270704" "GABRG2" "0000270705" "GABRG2" "0000270706" "GABRG2" "0000270707" "GABRG2" "0000270708" "GABRG2" "0000270709" "GABRG2" "0000304227" "GABRG2" "0000307107" "DYNC1H1" "0000307107" "GABRG2" "0000378354" "GABRG2" "0000437868" "GABRG2" "0000451346" "GABRG2" ## 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 = 93 "{{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}}" "0000035998" "11" "75" "5" "161524667" "161524667" "dup" "0" "00681" "GABRG2_000001" "g.161524667dup" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Germline" "yes" "" "0" "" "" "g.162097661dup" "" "likely pathogenic" "" "0000063082" "1" "50" "5" "161580815" "161580815" "subst" "0" "01164" "GABRG2_000003" "g.161580815T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162153809T>C" "" "VUS" "" "0000063083" "1" "10" "5" "161495002" "161495002" "del" "0" "01164" "GABRG2_000004" "g.161495002del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162067996del" "" "benign" "" "0000063084" "1" "10" "5" "161494852" "161494852" "subst" "0" "01164" "GABRG2_000006" "g.161494852C>T" "" "" "" "" "" "Germline" "" "rs3219203" "0" "" "" "g.162067846C>T" "" "benign" "" "0000063085" "1" "50" "5" "161524626" "161524626" "subst" "0" "01164" "GABRG2_000002" "g.161524626A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162097620A>G" "" "VUS" "" "0000063086" "1" "50" "5" "161495124" "161495124" "subst" "0.000322005" "01164" "GABRG2_000005" "g.161495124C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.162068118C>T" "" "VUS" "" "0000188364" "0" "50" "5" "161528238" "161528238" "subst" "3.66527E-5" "02192" "GABRG2_000007" "g.161528238T>G" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.162101232T>G" "" "VUS" "" "0000188394" "0" "50" "5" "161528238" "161528238" "subst" "3.66527E-5" "02192" "GABRG2_000007" "g.161528238T>G" "2/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.162101232T>G" "" "VUS" "" "0000188410" "0" "50" "5" "161576159" "161576159" "subst" "0" "02192" "GABRG2_000009" "g.161576159G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.162149153G>A" "" "VUS" "" "0000188413" "0" "50" "5" "161531032" "161531032" "subst" "0" "02192" "GABRG2_000008" "g.161531032G>A" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.162104026G>A" "" "VUS" "" "0000188547" "0" "50" "5" "161576278" "161576278" "subst" "3.65776E-5" "02192" "GABRG2_000010" "g.161576278C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs374512652" "0" "" "" "g.162149272C>T" "" "VUS" "" "0000251346" "0" "10" "5" "161495002" "161495002" "del" "0" "02326" "GABRG2_000011" "g.161495002del" "" "" "" "GABRG2(NM_198904.3):c.-4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162067996del" "" "benign" "" "0000251347" "0" "10" "5" "161494992" "161494992" "subst" "0" "02326" "GABRG2_000012" "g.161494992A>G" "" "" "" "GABRG2(NM_198904.3):c.-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162067986A>G" "" "benign" "" "0000251348" "0" "10" "5" "161524943" "161524943" "del" "0" "02326" "GABRG2_000026" "g.161524943del" "" "" "" "GABRG2(NM_198904.3):c.548+79delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097937del" "" "benign" "" "0000251349" "0" "10" "5" "161524956" "161524956" "del" "0" "02326" "GABRG2_000049" "g.161524956del" "" "" "" "GABRG2(NM_198904.3):c.548+92delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097950del" "" "benign" "" "0000251350" "0" "10" "5" "161524946" "161524946" "subst" "0" "02326" "GABRG2_000028" "g.161524946A>G" "" "" "" "GABRG2(NM_198904.3):c.548+82A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097940A>G" "" "benign" "" "0000252098" "0" "30" "5" "161510464" "161510464" "subst" "0" "02326" "GABRG2_000014" "g.161510464A>G" "" "" "" "GABRG2(NM_198904.3):c.108-10370A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162083458A>G" "" "likely benign" "" "0000252099" "0" "30" "5" "161522443" "161522443" "subst" "0" "02326" "GABRG2_000019" "g.161522443A>G" "" "" "" "GABRG2(NM_198904.3):c.260-58A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162095437A>G" "" "likely benign" "" "0000252100" "0" "30" "5" "161528364" "161528364" "subst" "0.00124273" "02326" "GABRG2_000032" "g.161528364A>C" "" "" "" "GABRG2(NM_198904.3):c.631+41A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162101358A>C" "" "likely benign" "" "0000252101" "0" "30" "5" "161529185" "161529185" "subst" "0" "02326" "GABRG2_000034" "g.161529185A>G" "" "" "" "GABRG2(NM_198904.3):c.631+862A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162102179A>G" "" "likely benign" "" "0000252102" "0" "30" "5" "161578692" "161578692" "subst" "0" "02326" "GABRG2_000043" "g.161578692A>T" "" "" "" "GABRG2(NM_198904.3):c.1129-44A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162151686A>T" "" "likely benign" "" "0000252373" "0" "70" "5" "161569296" "161569296" "subst" "0" "02326" "GABRG2_000040" "g.161569296A>T" "" "" "" "GABRG2(NM_198904.3):c.896A>T (p.D299V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162142290A>T" "" "likely pathogenic" "" "0000252614" "0" "90" "5" "161522499" "161522499" "subst" "0" "02326" "GABRG2_000020" "g.161522499A>G" "" "" "" "GABRG2(NM_198903.2):c.260-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162095493A>G" "" "pathogenic" "" "0000280968" "0" "10" "5" "161528280" "161528280" "subst" "0.282331" "02325" "GABRG2_000031" "g.161528280C>T" "" "" "" "GABRG2(NM_198903.2):c.588C>T (p.N196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162101274C>T" "" "benign" "" "0000284550" "0" "10" "5" "161494852" "161494852" "subst" "0" "02326" "GABRG2_000006" "g.161494852C>T" "" "" "" "GABRG2(NM_198904.3):c.-154C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162067846C>T" "" "benign" "" "0000284551" "0" "50" "5" "161580430" "161580430" "subst" "0" "02326" "GABRG2_000046" "g.161580430T>C" "" "" "" "GABRG2(NM_198903.2):c.*56T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162153424T>C" "" "VUS" "" "0000284553" "0" "10" "5" "161578672" "161578672" "del" "0" "02326" "GABRG2_000042" "g.161578672del" "" "" "" "GABRG2(NM_198904.3):c.1129-64delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162151666del" "" "benign" "" "0000284554" "0" "30" "5" "161580091" "161580091" "subst" "2.84701E-5" "02326" "GABRG2_000044" "g.161580091C>T" "" "" "" "GABRG2(NM_198904.3):c.1153-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162153085C>T" "" "likely benign" "" "0000284556" "0" "30" "5" "161520942" "161520942" "subst" "2.44206E-5" "02326" "GABRG2_000016" "g.161520942C>A" "" "" "" "GABRG2(NM_198904.3):c.216C>A (p.N72K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162093936C>A" "" "likely benign" "" "0000284557" "0" "70" "5" "161520947" "161520947" "subst" "0" "02326" "GABRG2_000017" "g.161520947T>C" "" "" "" "GABRG2(NM_198904.3):c.221T>C (p.L74P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162093941T>C" "" "likely pathogenic" "" "0000284558" "0" "30" "5" "161521105" "161521105" "subst" "0" "02326" "GABRG2_000018" "g.161521105G>A" "" "" "" "GABRG2(NM_198904.3):c.259+120G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162094099G>A" "" "likely benign" "" "0000284559" "0" "90" "5" "161522557" "161522557" "subst" "0" "02326" "GABRG2_000021" "g.161522557G>A" "" "" "" "GABRG2(NM_198903.2):c.316G>A (p.A106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162095551G>A" "" "pathogenic" "" "0000284560" "0" "30" "5" "161522717" "161522717" "subst" "0" "02326" "GABRG2_000022" "g.161522717T>G" "" "" "" "GABRG2(NM_198904.3):c.327+149T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162095711T>G" "" "likely benign" "" "0000284561" "0" "10" "5" "161524519" "161524519" "subst" "0" "02326" "GABRG2_000023" "g.161524519G>T" "" "" "" "GABRG2(NM_198904.3):c.328-125G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097513G>T" "" "benign" "" "0000284562" "0" "10" "5" "161524624" "161524624" "subst" "0.00408957" "02326" "GABRG2_000024" "g.161524624T>G" "" "" "" "GABRG2(NM_198904.3):c.328-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097618T>G" "" "benign" "" "0000284563" "0" "10" "5" "161524670" "161524670" "subst" "0.00416189" "02326" "GABRG2_000025" "g.161524670G>A" "" "" "" "GABRG2(NM_198903.2):c.354G>A (p.A118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097664G>A" "" "benign" "" "0000284564" "0" "10" "5" "161525053" "161525053" "subst" "0" "02326" "GABRG2_000030" "g.161525053T>G" "" "" "" "GABRG2(NM_198904.3):c.548+189T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162098047T>G" "" "benign" "" "0000284565" "0" "10" "5" "161524955" "161524956" "del" "0" "02326" "GABRG2_000027" "g.161524955_161524956del" "" "" "" "GABRG2(NM_198904.3):c.548+91_548+92delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097949_162097950del" "" "benign" "" "0000284567" "0" "30" "5" "161529330" "161529330" "subst" "0" "02326" "GABRG2_000035" "g.161529330C>A" "" "" "" "GABRG2(NM_198904.3):c.631+1007C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162102324C>A" "" "likely benign" "" "0000284568" "0" "10" "5" "161528378" "161528378" "subst" "0" "02326" "GABRG2_000033" "g.161528378T>G" "" "" "" "GABRG2(NM_198904.3):c.631+55T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162101372T>G" "" "benign" "" "0000284569" "0" "30" "5" "161530849" "161530849" "subst" "0.00211411" "02326" "GABRG2_000037" "g.161530849C>T" "" "" "" "GABRG2(NM_198904.3):c.632-46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162103843C>T" "" "likely benign" "" "0000284570" "0" "30" "5" "161531031" "161531031" "subst" "0.000529264" "02326" "GABRG2_000038" "g.161531031C>T" "" "" "" "GABRG2(NM_198904.3):c.768C>T (p.S256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162104025C>T" "" "likely benign" "" "0000284571" "0" "30" "5" "161569091" "161569091" "subst" "0" "02326" "GABRG2_000039" "g.161569091C>T" "" "" "" "GABRG2(NM_198904.3):c.770-79C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162142085C>T" "" "likely benign" "" "0000284572" "0" "90" "5" "161495082" "161495082" "subst" "0" "02326" "GABRG2_000013" "g.161495082G>A" "" "" "" "GABRG2(NM_198904.3):c.77G>A (p.W26*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162068076G>A" "" "pathogenic" "" "0000284573" "0" "30" "5" "161569380" "161569380" "subst" "0" "02326" "GABRG2_000041" "g.161569380T>G" "" "" "" "GABRG2(NM_198904.3):c.922+58T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162142374T>G" "" "likely benign" "" "0000288140" "0" "30" "5" "161529646" "161529646" "subst" "0.000292516" "01943" "GABRG2_000036" "g.161529646C>G" "" "" "" "GABRG2(NM_198903.2):c.718C>G (p.P240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162102640C>G" "" "likely benign" "" "0000348478" "0" "50" "5" "161580318" "161580318" "subst" "0" "02327" "GABRG2_000048" "g.161580318C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162153312C>T" "" "VUS" "" "0000349708" "0" "90" "5" "161524801" "161524801" "subst" "0" "02327" "GABRG2_000047" "g.161524801G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162097795G>A" "" "pathogenic" "" "0000497693" "0" "70" "5" "161576128" "161576129" "del" "0" "01227" "GABRG2_000050" "g.161576128_161576129delinsGG" "" "" "" "" "" "Somatic" "" "" "0" "" "" "g.162149122_162149123delinsGG" "" "likely pathogenic" "" "0000525104" "0" "30" "5" "161495124" "161495124" "subst" "0.000322005" "02326" "GABRG2_000005" "g.161495124C>T" "" "" "" "GABRG2(NM_198904.3):c.107+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162068118C>T" "" "likely benign" "" "0000525105" "0" "30" "5" "161510679" "161510679" "dup" "0" "02326" "GABRG2_000051" "g.161510679dup" "" "" "" "GABRG2(NM_198904.3):c.108-10155dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162083673dup" "" "likely benign" "" "0000525106" "0" "70" "5" "161520970" "161520970" "subst" "0" "02327" "GABRG2_000052" "g.161520970C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162093964C>T" "" "likely pathogenic" "" "0000525107" "0" "30" "5" "161522487" "161522487" "subst" "0" "02326" "GABRG2_000053" "g.161522487G>A" "" "" "" "GABRG2(NM_198904.3):c.260-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162095481G>A" "" "likely benign" "" "0000525108" "0" "50" "5" "161524807" "161524807" "subst" "0" "02327" "GABRG2_000054" "g.161524807C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162097801C>A" "" "VUS" "" "0000525109" "0" "30" "5" "161524941" "161524941" "subst" "0" "02326" "GABRG2_000055" "g.161524941A>T" "" "" "" "GABRG2(NM_198904.3):c.548+77A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162097935A>T" "" "likely benign" "" "0000525110" "0" "30" "5" "161528028" "161528028" "subst" "0" "02326" "GABRG2_000056" "g.161528028G>C" "" "" "" "GABRG2(NM_198904.3):c.549-213G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162101022G>C" "" "likely benign" "" "0000525111" "0" "50" "5" "161529630" "161529630" "subst" "0" "01943" "GABRG2_000057" "g.161529630G>A" "" "" "" "GABRG2(NM_198903.2):c.702G>A (p.W234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162102624G>A" "" "VUS" "" "0000525113" "0" "10" "5" "161578671" "161578671" "subst" "0" "02326" "GABRG2_000058" "g.161578671T>C" "" "" "" "GABRG2(NM_198904.3):c.1129-65T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162151665T>C" "" "benign" "" "0000525114" "0" "30" "5" "161580135" "161580135" "subst" "4.06689E-5" "02326" "GABRG2_000059" "g.161580135A>G" "" "" "" "GABRG2(NM_198904.3):c.1189A>G (p.I397V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162153129A>G" "" "likely benign" "" "0000525115" "0" "10" "5" "161580200" "161580200" "subst" "8.94265E-5" "02326" "GABRG2_000060" "g.161580200C>T" "" "" "" "GABRG2(NM_198904.3):c.1254C>T (p.D418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162153194C>T" "" "benign" "" "0000525116" "0" "50" "5" "161580306" "161580306" "subst" "0" "02327" "GABRG2_000061" "g.161580306C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162153300C>T" "" "VUS" "" "0000604425" "11" "90" "5" "161578735" "161578735" "subst" "0" "03512" "GABRG2_000062" "g.161578735G>T" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.162151729G>T" "" "pathogenic (dominant)" "" "0000604488" "0" "90" "5" "161576174" "161576174" "subst" "0" "00006" "GABRG2_000071" "g.161576174A>T" "" "{PMID:Baulac 2001:11326274}" "" "" "" "Germline" "" "" "0" "" "" "g.162149168A>T" "" "pathogenic" "" "0000604489" "0" "90" "5" "161520962" "161520962" "subst" "4.06994E-6" "00006" "GABRG2_000064" "g.161520962A>G" "" "{PMID:Shi 2010:20485450}" "" "" "" "Germline" "" "" "0" "" "" "g.162093956A>G" "" "pathogenic" "" "0000604490" "0" "70" "5" "161569311" "161569311" "subst" "0" "00006" "GABRG2_000070" "g.161569311G>A" "" "{PMID:Cantarín-Extremera 2011:21425109}" "" "" "" "Germline" "" "" "0" "" "" "g.162142305G>A" "" "likely pathogenic" "" "0000604491" "0" "90" "5" "161520844" "161520844" "subst" "0" "00006" "GABRG2_000063" "g.161520844C>T" "" "{PMID:Hirose 2006:16860540}" "" "" "" "Germline" "" "" "0" "" "" "g.162093838C>T" "" "pathogenic" "" "0000604492" "0" "90" "5" "161524722" "161524722" "subst" "0" "00006" "GABRG2_000067" "g.161524722C>T" "" "Johnston 2010, HG online" "" "" "" "Germline" "" "" "0" "" "" "g.162097716C>T" "" "pathogenic" "" "0000604493" "0" "70" "5" "161520971" "161520971" "subst" "0" "00006" "GABRG2_000065" "g.161520971G>A" "" "{PMID:Wallace 2001:11326275}" "" "" "" "Germline" "" "" "0" "" "" "g.162093965G>A" "" "likely pathogenic" "" "0000604494" "0" "70" "5" "161576279" "161576279" "subst" "2.03214E-5" "00006" "GABRG2_000072" "g.161576279G>A" "" "{PMID:Cantarín-Extremera 2011:21425109}" "" "" "" "Germline" "" "" "0" "" "" "g.162149273G>A" "" "likely pathogenic" "" "0000604495" "0" "70" "5" "161520973" "161520973" "subst" "0" "00006" "GABRG2_000066" "g.161520973C>T" "" "{PMID:Lachance-Touchette 2011:21714819}" "" "" "" "Germline" "" "" "0" "" "" "g.162093967C>T" "" "likely pathogenic" "" "0000604496" "0" "90" "5" "161580138" "161580138" "subst" "0" "00006" "GABRG2_000073" "g.161580138C>T" "" "{PMID:Harkin 2002:11748509}" "" "" "" "Germline" "" "" "0" "" "" "g.162153132C>T" "" "pathogenic" "" "0000604497" "0" "70" "5" "161524845" "161524845" "subst" "0" "00006" "GABRG2_000068" "g.161524845C>G" "" "{PMID:Audenaert 2006:16550559}" "" "" "" "Germline" "" "" "0" "" "" "g.162097839C>G" "" "likely pathogenic" "" "0000604498" "0" "90" "5" "161580257" "161580257" "subst" "0" "00006" "GABRG2_000074" "g.161580257G>A" "" "{PMID:Sun 2008:18566737}" "" "" "" "Germline" "" "" "0" "" "" "g.162153251G>A" "" "pathogenic" "" "0000604499" "0" "90" "5" "161531034" "161531034" "subst" "0" "00006" "GABRG2_000069" "g.161531034T>G" "" "{PMID:Kananura 2002:12117362}" "" "" "" "Germline" "" "" "0" "" "" "g.162104028T>G" "" "pathogenic" "" "0000667655" "0" "90" "5" "161576159" "161576159" "subst" "0" "00006" "GABRG2_000009" "g.161576159G>A" "" "{PMID:Carvill 2013:23708187}" "" "Arg323Gln" "" "De novo" "" "" "0" "" "" "g.162149153G>A" "" "pathogenic (dominant)" "" "0000673672" "0" "90" "5" "161569278" "161569278" "del" "0" "00006" "GABRG2_000075" "g.161569278del" "" "{PMID:Johannesen 2020:32427350}" "" "878delC" "ACMG PVS1, PM2, PM6" "De novo" "" "" "0" "" "" "g.162142272del" "" "pathogenic (dominant)" "ACMG" "0000677456" "0" "30" "5" "161524718" "161524718" "subst" "6.5128E-5" "02326" "GABRG2_000076" "g.161524718C>G" "" "" "" "GABRG2(NM_198904.3):c.402C>G (p.V134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720328" "0" "90" "5" "161522557" "161522557" "subst" "0" "02329" "GABRG2_000021" "g.161522557G>A" "" "" "" "GABRG2(NM_198903.2):c.316G>A (p.A106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000791106" "0" "50" "5" "161495046" "161495046" "subst" "1.21981E-5" "01164" "GABRG2_000077" "g.161495046A>G" "" "" "" "" "ACMG: PM2_SUP, BP4" "Germline" "?" "rs61750979" "" "" "" "" "" "VUS" "ACMG" "0000802013" "0" "50" "5" "161576292" "161576292" "subst" "0" "02325" "GABRG2_000078" "g.161576292G>T" "" "" "" "GABRG2(NM_000816.3):c.1101G>T (p.K367N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850862" "0" "10" "5" "161495002" "161495002" "dup" "0" "02325" "GABRG2_000079" "g.161495002dup" "" "" "" "GABRG2(NM_198903.2):c.-4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859862" "0" "30" "5" "161580296" "161580296" "subst" "6.91349E-5" "01943" "GABRG2_000080" "g.161580296C>T" "" "" "" "GABRG2(NM_198903.2):c.1470C>T (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871144" "0" "70" "5" "161576159" "161576159" "subst" "0" "00006" "GABRG2_000009" "g.161576159G>A" "" "{PMID:Halvardson 2016:27334371}" "" "G968A (R323Q)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000886728" "0" "50" "5" "161576176" "161576176" "subst" "4.06547E-6" "02325" "GABRG2_000081" "g.161576176G>T" "" "" "" "GABRG2(NM_000816.3):c.985G>T (p.V329F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933297" "0" "70" "5" "161576176" "161576176" "subst" "4.06547E-6" "01164" "GABRG2_000081" "g.161576176G>T" "" "PMID: 29655203; Invitae, GeneDx, MGZ: detected in at least 4 unrelated individuals with clinical features of GABRG2-related conditions,in at least one individual in confirmed de novo constellation" "" "" "ACMG: PS4_MOD, PP3_MOD, PS2_SUP, PM2_SUP, PP2" "De novo" "-" "" "0" "" "" "g.162149170G>T" "VCV000205550.6" "likely pathogenic (dominant)" "ACMG" "0000936306" "0" "90" "5" "161576159" "161576159" "subst" "0" "00006" "GABRG2_000009" "g.161576159G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_198904:c.G968A (R323Q)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000963548" "0" "70" "5" "161569307" "161569307" "subst" "0" "02329" "GABRG2_000082" "g.161569307G>A" "" "" "" "GABRG2(NM_001375349.1):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976702" "0" "30" "5" "161580153" "161580153" "subst" "4.06616E-5" "01804" "GABRG2_000083" "g.161580153A>G" "" "" "" "GABRG2(NM_198904.4):c.1207A>G (p.(Thr403Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985199" "0" "70" "5" "161580243" "161580243" "subst" "0" "01164" "GABRG2_000084" "g.161580243C>T" "" "PMID: 26633542" "" "" "ACMG: PVS1_STR, PS4_MOD, PM2_SUP;" "Germline" "?" "" "" "" "" "g.162153237C>T" "VCV001451576.5" "likely pathogenic (dominant)" "ACMG" "0000994854" "0" "50" "5" "161528238" "161528238" "subst" "3.66527E-5" "01804" "GABRG2_000007" "g.161528238T>G" "" "" "" "GABRG2(NM_198904.2):c.549-3T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014106" "0" "50" "5" "161524764" "161524764" "subst" "0" "02327" "GABRG2_000085" "g.161524764A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017840" "0" "90" "5" "161524745" "161524745" "del" "0" "03544" "GABRG2_000086" "g.161524745del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.162097739del" "{CV:3383966}" "pathogenic" "ACMG" "0001035071" "0" "30" "5" "161494631" "161494631" "subst" "0" "01804" "GABRG2_000087" "g.161494631G>C" "" "" "" "GABRG2(NM_001375347.1):c.4G>C (p.(Asp2His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 GABRG2 ## Count = 93 "{{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}}" "0000035998" "00025853" "70" "351" "0" "351" "0" "c.351dup" "r.(?)" "p.(Ala118Cysfs*6)" "4" "0000063082" "00025853" "50" "1869" "0" "1869" "0" "c.*441T>C" "r.(?)" "p.(=)" "" "0000063083" "00025853" "10" "-4" "0" "-4" "0" "c.-4del" "r.(?)" "p.(=)" "" "0000063084" "00025853" "10" "-154" "0" "-154" "0" "c.-154C>T" "r.(?)" "p.(=)" "" "0000063085" "00025853" "50" "328" "-18" "328" "-18" "c.328-18A>G" "r.(?)" "p.(=)" "" "0000063086" "00025853" "50" "107" "12" "107" "12" "c.107+12C>T" "r.(?)" "p.(=)" "" "0000188364" "00025853" "50" "549" "-3" "549" "-3" "c.549-3T>G" "r.spl?" "p.?" "" "0000188394" "00025853" "50" "549" "-3" "549" "-3" "c.549-3T>G" "r.spl?" "p.?" "" "0000188410" "00025853" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000188413" "00025853" "50" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Gly257Arg)" "" "0000188547" "00025853" "50" "1087" "0" "1087" "0" "c.1087C>T" "r.(?)" "p.(Arg363Trp)" "" "0000251346" "00025853" "10" "-4" "0" "-4" "0" "c.-4del" "r.(?)" "p.(=)" "" "0000251347" "00025853" "10" "-14" "0" "-14" "0" "c.-14A>G" "r.(?)" "p.(=)" "" "0000251348" "00025853" "10" "548" "79" "548" "79" "c.548+79del" "r.(=)" "p.(=)" "" "0000251349" "00025853" "10" "548" "92" "548" "92" "c.548+92del" "r.(=)" "p.(=)" "" "0000251350" "00025853" "10" "548" "82" "548" "82" "c.548+82A>G" "r.(=)" "p.(=)" "" "0000252098" "00025853" "30" "108" "-10370" "108" "-10370" "c.108-10370A>G" "r.(=)" "p.(=)" "" "0000252099" "00025853" "30" "260" "-58" "260" "-58" "c.260-58A>G" "r.(=)" "p.(=)" "" "0000252100" "00025853" "30" "631" "41" "631" "41" "c.631+41A>C" "r.(=)" "p.(=)" "" "0000252101" "00025853" "30" "631" "862" "631" "862" "c.631+862A>G" "r.(=)" "p.(=)" "" "0000252102" "00025853" "30" "1129" "-44" "1129" "-44" "c.1129-44A>T" "r.(=)" "p.(=)" "" "0000252373" "00025853" "70" "896" "0" "896" "0" "c.896A>T" "r.(?)" "p.(Asp299Val)" "" "0000252614" "00025853" "90" "260" "-2" "260" "-2" "c.260-2A>G" "r.spl?" "p.?" "" "0000280968" "00025853" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Asn196=)" "" "0000284550" "00025853" "10" "-154" "0" "-154" "0" "c.-154C>T" "r.(?)" "p.(=)" "" "0000284551" "00025853" "50" "1484" "0" "1484" "0" "c.*56T>C" "r.(=)" "p.(=)" "" "0000284553" "00025853" "10" "1129" "-64" "1129" "-64" "c.1129-64del" "r.(=)" "p.(=)" "" "0000284554" "00025853" "30" "1153" "-8" "1153" "-8" "c.1153-8C>T" "r.(=)" "p.(=)" "" "0000284556" "00025853" "30" "216" "0" "216" "0" "c.216C>A" "r.(?)" "p.(Asn72Lys)" "" "0000284557" "00025853" "70" "221" "0" "221" "0" "c.221T>C" "r.(?)" "p.(Leu74Pro)" "" "0000284558" "00025853" "30" "259" "120" "259" "120" "c.259+120G>A" "r.(=)" "p.(=)" "" "0000284559" "00025853" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Ala106Thr)" "" "0000284560" "00025853" "30" "327" "149" "327" "149" "c.327+149T>G" "r.(=)" "p.(=)" "" "0000284561" "00025853" "10" "328" "-125" "328" "-125" "c.328-125G>T" "r.(=)" "p.(=)" "" "0000284562" "00025853" "10" "328" "-20" "328" "-20" "c.328-20T>G" "r.(=)" "p.(=)" "" "0000284563" "00025853" "10" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Ala118=)" "" "0000284564" "00025853" "10" "548" "189" "548" "189" "c.548+189T>G" "r.(=)" "p.(=)" "" "0000284565" "00025853" "10" "548" "91" "548" "92" "c.548+91_548+92del" "r.(=)" "p.(=)" "" "0000284567" "00025853" "30" "631" "1007" "631" "1007" "c.631+1007C>A" "r.(=)" "p.(=)" "" "0000284568" "00025853" "10" "631" "55" "631" "55" "c.631+55T>G" "r.(=)" "p.(=)" "" "0000284569" "00025853" "30" "632" "-46" "632" "-46" "c.632-46C>T" "r.(=)" "p.(=)" "" "0000284570" "00025853" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Ser256=)" "" "0000284571" "00025853" "30" "770" "-79" "770" "-79" "c.770-79C>T" "r.(=)" "p.(=)" "" "0000284572" "00025853" "90" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Trp26Ter)" "" "0000284573" "00025853" "30" "922" "58" "922" "58" "c.922+58T>G" "r.(=)" "p.(=)" "" "0000288140" "00025853" "30" "632" "-1249" "632" "-1249" "c.632-1249C>G" "r.(=)" "p.(=)" "" "0000348478" "00025853" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "" "0000349708" "00025853" "90" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Trp162Ter)" "" "0000497693" "00025853" "70" "937" "0" "938" "0" "c.937_938delinsGG" "r.(?)" "p.(Leu313Gly)" "" "0000525104" "00025853" "30" "107" "12" "107" "12" "c.107+12C>T" "r.(=)" "p.(=)" "" "0000525105" "00025853" "30" "108" "-10155" "108" "-10155" "c.108-10155dup" "r.(=)" "p.(=)" "" "0000525106" "00025853" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000525107" "00025853" "30" "260" "-14" "260" "-14" "c.260-14G>A" "r.(=)" "p.(=)" "" "0000525108" "00025853" "50" "491" "0" "491" "0" "c.491C>A" "r.(?)" "p.(Thr164Asn)" "" "0000525109" "00025853" "30" "548" "77" "548" "77" "c.548+77A>T" "r.(=)" "p.(=)" "" "0000525110" "00025853" "30" "549" "-213" "549" "-213" "c.549-213G>C" "r.(=)" "p.(=)" "" "0000525111" "00025853" "50" "632" "-1265" "632" "-1265" "c.632-1265G>A" "r.(=)" "p.(=)" "" "0000525113" "00025853" "10" "1129" "-65" "1129" "-65" "c.1129-65T>C" "r.(=)" "p.(=)" "" "0000525114" "00025853" "30" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Ile397Val)" "" "0000525115" "00025853" "10" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(Asp418=)" "" "0000525116" "00025853" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Trp)" "" "0000604425" "00025853" "90" "1129" "-1" "1129" "-1" "c.1129-1G>T" "r.spl" "p.?" "" "0000604488" "00025853" "90" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Lys328Met)" "" "0000604489" "00025853" "90" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.(Asn79Ser)" "" "0000604490" "00025853" "70" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304Lys)" "" "0000604491" "00025853" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Gln40*)" "" "0000604492" "00025853" "90" "406" "0" "406" "0" "c.406C>T" "r.(?)" "p.(Arg136*)" "" "0000604493" "00025853" "70" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82Gln)" "" "0000604494" "00025853" "70" "1088" "0" "1088" "0" "c.1088G>A" "r.(?)" "p.(Arg363Gln)" "" "0000604495" "00025853" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Pro83Ser)" "" "0000604496" "00025853" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "" "0000604497" "00025853" "70" "529" "0" "529" "0" "c.529C>G" "r.(?)" "p.(Arg177Gly)" "" "0000604498" "00025853" "90" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "" "0000604499" "00025853" "90" "769" "2" "769" "2" "c.769+2T>G" "r.spl" "p.?" "" "0000667655" "00025853" "90" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000673672" "00025853" "90" "878" "0" "878" "0" "c.878del" "r.(?)" "p.(Ser293Phefs*15)" "" "0000677456" "00025853" "30" "402" "0" "402" "0" "c.402C>G" "r.(?)" "p.(Val134=)" "" "0000720328" "00025853" "90" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Ala106Thr)" "" "0000791106" "00025853" "50" "41" "0" "41" "0" "c.41A>G" "r.(?)" "p.(Tyr14Cys)" "" "0000802013" "00025853" "50" "1101" "0" "1101" "0" "c.1101G>T" "r.(?)" "p.(Lys367Asn)" "" "0000850862" "00025853" "10" "-4" "0" "-4" "0" "c.-4dup" "r.(?)" "p.(=)" "" "0000859862" "00025853" "30" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Asp450=)" "" "0000871144" "00025853" "70" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000886728" "00025853" "50" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Val329Phe)" "" "0000933297" "00025853" "70" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Val329Phe)" "" "0000936306" "00025853" "90" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000963548" "00025853" "70" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Ala303Thr)" "" "0000976702" "00025853" "30" "1207" "0" "1207" "0" "c.1207A>G" "r.(?)" "p.(Thr403Ala)" "" "0000985199" "00025853" "70" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Arg433*)" "10" "0000994854" "00025853" "50" "549" "-3" "549" "-3" "c.549-3T>G" "r.spl?" "p.?" "" "0001014106" "00025853" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Thr150Ala)" "" "0001017840" "00025853" "90" "429" "0" "429" "0" "c.429del" "r.(?)" "p.(Ile145Serfs*26)" "4" "0001035071" "00025853" "30" "-375" "0" "-375" "0" "c.-375G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000016253" "0000035998" "0000035957" "0000063082" "0000035958" "0000063083" "0000035959" "0000063084" "0000035960" "0000063085" "0000035961" "0000063086" "0000117495" "0000188547" "0000117526" "0000188364" "0000117554" "0000188394" "0000117567" "0000188410" "0000117570" "0000188413" "0000245551" "0000497693" "0000270632" "0000604425" "0000270698" "0000604488" "0000270699" "0000604489" "0000270700" "0000604490" "0000270701" "0000604491" "0000270702" "0000604492" "0000270703" "0000604493" "0000270704" "0000604494" "0000270705" "0000604495" "0000270706" "0000604496" "0000270707" "0000604497" "0000270708" "0000604498" "0000270709" "0000604499" "0000304227" "0000667655" "0000307107" "0000673672" "0000378354" "0000791106" "0000413636" "0000871144" "0000437868" "0000933297" "0000440148" "0000936306" "0000451346" "0000985199" "0000459726" "0001017840"