### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABRB3) # 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}}" "GABRB3" "gamma-aminobutyric acid (GABA) A receptor, beta 3" "15" "q12" "unknown" "NG_012836.1" "UD_132118699471" "" "https://www.LOVD.nl/GABRB3" "" "1" "4083" "2562" "137192" "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/GABRB3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-02 14:42:42" "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}}" "00008274" "GABRB3" "transcript variant 1" "002" "NM_000814.5" "" "NP_000805.1" "" "" "" "-114" "5669" "1422" "27018223" "26788693" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "03111" "ECA5" "epilepsy, childhood absence, type 5 (ECA-5)" "" "612269" "" "" "" "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" "06264" "EIEE43" "Epileptic encephalopathy, early infantile, 43" "AD" "617113" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GABRB3" "03111" "GABRB3" "06264" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00050492" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00089200" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00089201" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00089202" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00089203" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00089204" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00089205" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "F" "" "" "" "0" "" "" "" "" "00089206" "" "" "" "1" "" "00006" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "M" "" "" "" "0" "" "" "" "" "00302774" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "1843.647" "00305976" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Denmark" "" "0" "" "" "" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00050492" "00198" "00089200" "00344" "00089201" "00344" "00089202" "00344" "00089203" "00344" "00089204" "00344" "00089205" "00344" "00089206" "00344" "00302774" "00139" "00305976" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 03111, 04270, 06264 ## Count = 10 "{{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}}" "0000037104" "00198" "00050492" "00006" "Isolated (sporadic)" "" "seizures, global developmental delay, constipation" "" "" "" "" "" "" "" "" "" "" "" "0000068590" "00344" "00089200" "00006" "Isolated (sporadic)" "" "epilepsy with myoclonic-atonic seizures" "" "" "" "" "" "" "" "" "" "" "" "0000068591" "00344" "00089201" "00006" "Familial" "" "Dravet syndrome like, seggregates with Generalized epilepsy with febrile seizures plus" "" "" "" "" "" "" "" "" "" "" "" "0000068592" "00344" "00089202" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000068593" "00344" "00089203" "00006" "Isolated (sporadic)" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000068594" "00344" "00089204" "00006" "Isolated (sporadic)" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000068595" "00344" "00089205" "00006" "Unknown" "" "early-onset epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "0000068596" "00344" "00089206" "00006" "Isolated (sporadic)" "" "Lennox-Gastaut syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000229856" "00139" "00302774" "00006" "Isolated (sporadic)" "2y" "moderate global developmental delay intellectual disability; speech words; not walking; epilepsy; autistic features; no microcephaly; no macrocephaly; MRI brain normal; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000231822" "04270" "00305976" "00006" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "unspecified epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050437" "00050492" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000089346" "00089200" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089347" "00089201" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089348" "00089202" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089349" "00089203" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089350" "00089204" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089351" "00089205" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089352" "00089206" "1" "00006" "00006" "2016-12-02 14:26:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000303900" "00302774" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000307106" "00305976" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000050437" "GABRB3" "0000089346" "GABRB3" "0000089347" "GABRB3" "0000089348" "GABRB3" "0000089349" "GABRB3" "0000089350" "GABRB3" "0000089351" "GABRB3" "0000089352" "GABRB3" "0000303900" "GABRB3" "0000307106" "GABRB3" ## 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 = 53 "{{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}}" "0000079417" "0" "90" "15" "26806242" "26806242" "subst" "0" "00006" "GABRB3_000001" "g.26806242A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.26561095A>G" "" "pathogenic" "" "0000147283" "0" "90" "15" "26866564" "26866564" "subst" "0" "00006" "GABRB3_000002" "g.26866564C>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.26621417C>T" "" "pathogenic" "" "0000147284" "1" "90" "15" "26828553" "26828553" "subst" "0" "00006" "GABRB3_000003" "g.26828553G>A" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.26583406G>A" "" "pathogenic" "" "0000147285" "0" "90" "15" "26825603" "26825603" "subst" "0" "00006" "GABRB3_000004" "g.26825603T>A" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.26580456T>A" "" "pathogenic" "" "0000147286" "0" "90" "15" "26812818" "26812818" "subst" "0" "00006" "GABRB3_000005" "g.26812818G>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.26567671G>T" "" "pathogenic" "" "0000147287" "0" "90" "15" "26812796" "26812796" "subst" "0" "00006" "GABRB3_000006" "g.26812796A>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.26567649A>T" "" "pathogenic" "" "0000147288" "0" "70" "15" "26806281" "26806281" "subst" "0" "00006" "GABRB3_000007" "g.26806281A>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26561134A>T" "" "likely pathogenic" "" "0000147289" "0" "90" "15" "26806246" "26806246" "subst" "0" "00006" "GABRB3_000008" "g.26806246C>T" "" "{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}" "" "" "" "De novo" "-" "" "0" "" "" "g.26561099C>T" "" "pathogenic" "" "0000249847" "0" "50" "15" "27018790" "27018790" "subst" "0" "02325" "GABRB3_000023" "g.27018790A>G" "" "" "" "GABRB3(NM_021912.5):c.80+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773643A>G" "" "VUS" "" "0000252241" "0" "30" "15" "26812636" "26812636" "subst" "0" "02326" "GABRB3_000013" "g.26812636A>C" "" "" "" "GABRB3(NM_000814.6):c.835+92T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26567489A>C" "" "likely benign" "" "0000284517" "0" "30" "15" "27018199" "27018210" "del" "0" "02326" "GABRB3_000020" "g.27018199_27018210del" "" "" "" "GABRB3(NM_000814.6):c.-90_-79delGGCGGCGGCGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773052_26773063del" "" "likely benign" "" "0000284518" "0" "30" "15" "27018208" "27018210" "del" "0" "02326" "GABRB3_000021" "g.27018208_27018210del" "" "" "" "GABRB3(NM_000814.6):c.-81_-79delGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773061_26773063del" "" "likely benign" "" "0000284519" "0" "30" "15" "26806023" "26806023" "subst" "0" "02326" "GABRB3_000009" "g.26806023T>C" "" "" "" "GABRB3(NM_000814.6):c.1080+56A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26560876T>C" "" "likely benign" "" "0000284520" "0" "30" "15" "27018841" "27018841" "subst" "0.00286875" "02326" "GABRB3_000025" "g.27018841G>A" "" "" "" "GABRB3(NM_021912.4):c.31C>T (p.P11S), GABRB3(NM_021912.5):c.31C>T (p.(Pro11Ser), p.P11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773694G>A" "" "likely benign" "" "0000284521" "0" "70" "15" "26866497" "26866497" "subst" "0" "02326" "GABRB3_000018" "g.26866497C>A" "" "" "" "GABRB3(NM_000814.6):c.425G>T (p.R142L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26621350C>A" "" "likely pathogenic" "" "0000284522" "0" "30" "15" "26861078" "26861078" "subst" "0" "02326" "GABRB3_000017" "g.26861078T>C" "" "" "" "GABRB3(NM_000814.6):c.461+5383A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26615931T>C" "" "likely benign" "" "0000284523" "0" "30" "15" "26861037" "26861037" "subst" "0" "02326" "GABRB3_000016" "g.26861037G>C" "" "" "" "GABRB3(NM_000814.6):c.461+5424C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26615890G>C" "" "likely benign" "" "0000284524" "0" "70" "15" "26828490" "26828490" "subst" "0" "02326" "GABRB3_000015" "g.26828490T>C" "" "" "" "GABRB3(NM_000814.6):c.533A>G (p.E178G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26583343T>C" "" "likely pathogenic" "" "0000284525" "0" "10" "15" "27018797" "27018797" "subst" "0.220536" "02326" "GABRB3_000024" "g.27018797G>A" "" "" "" "GABRB3(NM_021912.5):c.75C>T (p.P25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773650G>A" "" "benign" "" "0000284526" "0" "10" "15" "26812780" "26812780" "subst" "0.0249433" "02326" "GABRB3_000014" "g.26812780C>T" "" "" "" "GABRB3(NM_000814.6):c.783G>A (p.S261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26567633C>T" "" "benign" "" "0000284527" "0" "30" "15" "27018779" "27018779" "subst" "6.25513E-5" "02326" "GABRB3_000022" "g.27018779G>T" "" "" "" "GABRB3(NM_021912.5):c.80+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773632G>T" "" "likely benign" "" "0000284528" "0" "30" "15" "27018026" "27018026" "subst" "0" "02326" "GABRB3_000019" "g.27018026C>G" "" "" "" "GABRB3(NM_000814.6):c.80+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26772879C>G" "" "likely benign" "" "0000284529" "0" "10" "15" "26812569" "26812569" "subst" "0" "02326" "GABRB3_000012" "g.26812569G>A" "" "" "" "GABRB3(NM_000814.6):c.835+159C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26567422G>A" "" "benign" "" "0000284530" "0" "30" "15" "26806343" "26806343" "del" "0" "02326" "GABRB3_000011" "g.26806343del" "" "" "" "GABRB3(NM_000814.6):c.836-19delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26561196del" "" "likely benign" "" "0000284531" "0" "90" "15" "26806254" "26806254" "subst" "0" "02326" "GABRB3_000010" "g.26806254T>C" "" "" "" "GABRB3(NM_000814.6):c.905A>G (p.Y302C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26561107T>C" "" "pathogenic" "" "0000288136" "0" "30" "15" "27018841" "27018841" "subst" "0.00286875" "01943" "GABRB3_000025" "g.27018841G>A" "" "" "" "GABRB3(NM_021912.4):c.31C>T (p.P11S), GABRB3(NM_021912.5):c.31C>T (p.(Pro11Ser), p.P11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26773694G>A" "" "likely benign" "" "0000342336" "0" "90" "15" "26812868" "26812868" "subst" "0" "02327" "GABRB3_000027" "g.26812868C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26567721C>T" "" "pathogenic" "" "0000343564" "0" "30" "15" "26866593" "26866593" "subst" "1.2184E-5" "02327" "GABRB3_000028" "g.26866593T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26621446T>C" "" "likely benign" "" "0000349414" "0" "50" "15" "26806306" "26806306" "subst" "0" "02327" "GABRB3_000026" "g.26806306T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26561159T>C" "" "VUS" "" "0000553736" "0" "50" "15" "26793156" "26793156" "subst" "0" "02327" "GABRB3_000029" "g.26793156G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26548009G>C" "" "VUS" "" "0000553737" "0" "50" "15" "26812723" "26812723" "subst" "2.03787E-5" "02327" "GABRB3_000030" "g.26812723C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26567576C>A" "" "VUS" "" "0000553738" "0" "10" "15" "26866321" "26866321" "dup" "0" "02326" "GABRB3_000031" "g.26866321dup" "" "" "" "GABRB3(NM_000814.6):c.461+148dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26621174dup" "" "benign" "" "0000553739" "0" "70" "15" "26866542" "26866542" "subst" "0" "02327" "GABRB3_000032" "g.26866542T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26621395T>C" "" "likely pathogenic" "" "0000553740" "0" "50" "15" "27017840" "27017840" "subst" "0" "01804" "GABRB3_000033" "g.27017840G>A" "" "" "" "GABRB3(NM_000814.5):c.160C>T (p.(Pro54Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26772693G>A" "" "VUS" "" "0000553741" "0" "30" "15" "27018774" "27018774" "subst" "2.82362E-5" "02326" "GABRB3_000034" "g.27018774G>A" "" "" "" "GABRB3(NM_021912.5):c.80+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26773627G>A" "" "likely benign" "" "0000623196" "0" "50" "15" "26828525" "26828525" "subst" "0" "01943" "GABRB3_000035" "g.26828525C>A" "" "" "" "GABRB3(NM_001278631.1):c.243G>T (p.R81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26583378C>A" "" "VUS" "" "0000657536" "0" "30" "15" "26793291" "26793291" "subst" "7.39469E-5" "02326" "GABRB3_000036" "g.26793291C>T" "" "" "" "GABRB3(NM_000814.6):c.1081-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26548144C>T" "" "likely benign" "" "0000667302" "0" "70" "15" "26866507" "26866509" "dup" "0" "00006" "GABRB3_000037" "g.26866507_26866509dup" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.26621360_26621362dup" "" "pathogenic (dominant)" "" "0000673671" "0" "70" "15" "27017557" "27017557" "subst" "0" "00006" "GABRB3_000038" "g.27017557C>A" "" "{PMID:Johannesen 2020:32427350}" "" "" "ACMG PM2, PM5, PM6, PP2, PP3" "De novo" "" "" "0" "" "" "g.26772410C>A" "" "likely pathogenic (dominant)" "ACMG" "0000680118" "0" "30" "15" "26793069" "26793069" "subst" "0.000516101" "02326" "GABRB3_000039" "g.26793069C>T" "" "" "" "GABRB3(NM_001278631.1):c.1038G>A (p.R346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680119" "0" "70" "15" "26825600" "26825600" "subst" "0" "02325" "GABRB3_000040" "g.26825600C>A" "" "" "" "GABRB3(NM_001278631.2):c.293G>T (p.G98V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853960" "0" "70" "15" "26806287" "26806287" "subst" "0" "02329" "GABRB3_000041" "g.26806287G>A" "" "" "" "GABRB3(NM_001278631.2):c.617C>T (p.T206I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000853961" "0" "90" "15" "26866543" "26866543" "subst" "0" "02327" "GABRB3_000042" "g.26866543T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863769" "0" "30" "15" "27018100" "27018100" "subst" "0" "01943" "GABRB3_000043" "g.27018100G>A" "" "" "" "GABRB3(NM_000814.6):c.10C>T (p.L4F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914266" "0" "50" "15" "26793032" "26793032" "subst" "8.14219E-6" "02329" "GABRB3_000044" "g.26793032C>T" "" "" "" "GABRB3(NM_001278631.2):c.1075G>A (p.D359N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981123" "0" "50" "15" "27018790" "27018790" "subst" "0" "01804" "GABRB3_000023" "g.27018790A>G" "" "" "" "GABRB3(NM_021912.5):c.80+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981124" "0" "30" "15" "27018841" "27018841" "subst" "0.00286875" "01804" "GABRB3_000025" "g.27018841G>A" "" "" "" "GABRB3(NM_021912.4):c.31C>T (p.P11S), GABRB3(NM_021912.5):c.31C>T (p.(Pro11Ser), p.P11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001258" "0" "50" "15" "26793040" "26793040" "subst" "0" "01804" "GABRB3_000045" "g.26793040T>C" "" "" "" "GABRB3(NM_000814.5):c.1322A>G (p.(Asp441Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001259" "0" "30" "15" "26825493" "26825493" "subst" "0" "01804" "GABRB3_000046" "g.26825493C>T" "" "" "" "GABRB3(NM_000814.5):c.655G>A (p.(Val219Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001260" "0" "50" "15" "26866507" "26866507" "subst" "4.06204E-6" "01804" "GABRB3_000047" "g.26866507G>A" "" "" "" "GABRB3(NM_001278631.1):c.160C>T (p.(Pro54Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001261" "0" "50" "15" "27017828" "27017828" "subst" "0" "01804" "GABRB3_000048" "g.27017828C>A" "" "" "" "GABRB3(NM_000814.5):c.172G>T (p.(Gly58Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026420" "0" "50" "15" "26793197" "26793197" "subst" "0" "02329" "GABRB3_000049" "g.26793197T>C" "" "" "" "GABRB3(NM_000814.6):c.1165A>G (p.R389G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040236" "0" "30" "15" "26793020" "26793020" "subst" "2.85218E-5" "01804" "GABRB3_000050" "g.26793020T>C" "" "" "" "GABRB3(NM_000814.6):c.1342A>G (p.(Ile448Val))" "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 GABRB3 ## Count = 53 "{{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}}" "0000079417" "00008274" "90" "917" "0" "917" "0" "c.917T>C" "r.(?)" "p.(Ile306Thr)" "8" "0000147283" "00008274" "90" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Asp120Asn)" "4" "0000147284" "00008274" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Thr157Met)" "5" "0000147285" "00008274" "90" "545" "0" "545" "0" "c.545A>T" "r.spl?" "p.(Tyr182Phe)" "6" "0000147286" "00008274" "90" "745" "0" "745" "0" "c.745C>A" "r.(?)" "p.(Gln249Lys)" "7" "0000147287" "00008274" "90" "767" "0" "767" "0" "c.767T>A" "r.(?)" "p.(Leu256Gln)" "7" "0000147288" "00008274" "70" "878" "0" "878" "0" "c.878T>A" "r.(?)" "p.(Leu293His)" "8" "0000147289" "00008274" "90" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Ala305Thr)" "8" "0000249847" "00008274" "50" "-681" "0" "-681" "0" "c.-681T>C" "r.(?)" "p.(=)" "" "0000252241" "00008274" "30" "835" "92" "835" "92" "c.835+92T>G" "r.(=)" "p.(=)" "" "0000284517" "00008274" "30" "-90" "0" "-79" "0" "c.-90_-79del" "r.(?)" "p.(=)" "" "0000284518" "00008274" "30" "-81" "0" "-79" "0" "c.-81_-79del" "r.(?)" "p.(=)" "" "0000284519" "00008274" "30" "1080" "56" "1080" "56" "c.1080+56A>G" "r.(=)" "p.(=)" "" "0000284520" "00008274" "30" "-732" "0" "-732" "0" "c.-732C>T" "r.(?)" "p.(=)" "" "0000284521" "00008274" "70" "425" "0" "425" "0" "c.425G>T" "r.(?)" "p.(Arg142Leu)" "" "0000284522" "00008274" "30" "461" "5383" "461" "5383" "c.461+5383A>G" "r.(=)" "p.(=)" "" "0000284523" "00008274" "30" "461" "5424" "461" "5424" "c.461+5424C>G" "r.(=)" "p.(=)" "" "0000284524" "00008274" "70" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000284525" "00008274" "10" "-688" "0" "-688" "0" "c.-688C>T" "r.(?)" "p.(=)" "" "0000284526" "00008274" "10" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ser261=)" "" "0000284527" "00008274" "30" "-670" "0" "-670" "0" "c.-670C>A" "r.(?)" "p.(=)" "" "0000284528" "00008274" "30" "80" "4" "80" "4" "c.80+4G>C" "r.spl?" "p.?" "" "0000284529" "00008274" "10" "835" "159" "835" "159" "c.835+159C>T" "r.(=)" "p.(=)" "" "0000284530" "00008274" "30" "836" "-19" "836" "-19" "c.836-19del" "r.(=)" "p.(=)" "" "0000284531" "00008274" "90" "905" "0" "905" "0" "c.905A>G" "r.(?)" "p.(Tyr302Cys)" "" "0000288136" "00008274" "30" "-732" "0" "-732" "0" "c.-732C>T" "r.(?)" "p.(=)" "" "0000342336" "00008274" "90" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000343564" "00008274" "30" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Asn110Ser)" "" "0000349414" "00008274" "50" "853" "0" "853" "0" "c.853A>G" "r.(?)" "p.(Thr285Ala)" "" "0000553736" "00008274" "50" "1206" "0" "1206" "0" "c.1206C>G" "r.(?)" "p.(Tyr402Ter)" "" "0000553737" "00008274" "50" "835" "5" "835" "5" "c.835+5G>T" "r.spl?" "p.?" "" "0000553738" "00008274" "10" "461" "148" "461" "148" "c.461+148dup" "r.(=)" "p.(=)" "" "0000553739" "00008274" "70" "380" "0" "380" "0" "c.380A>G" "r.(?)" "p.(Lys127Arg)" "" "0000553740" "00008274" "50" "160" "0" "160" "0" "c.160C>T" "r.(?)" "p.(Pro54Ser)" "" "0000553741" "00008274" "30" "-665" "0" "-665" "0" "c.-665C>T" "r.(?)" "p.(=)" "" "0000623196" "00008274" "50" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Arg166Ser)" "" "0000657536" "00008274" "30" "1081" "-10" "1081" "-10" "c.1081-10G>A" "r.(=)" "p.(=)" "" "0000667302" "00008274" "70" "413" "0" "415" "0" "c.413_415dup" "r.(?)" "p.(Asn138_Arg139insHis)" "" "0000673671" "00008274" "70" "232" "0" "232" "0" "c.232G>T" "r.(?)" "p.(Val78Phe)" "" "0000680118" "00008274" "30" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Arg431=)" "" "0000680119" "00008274" "70" "548" "0" "548" "0" "c.548G>T" "r.(?)" "p.(Gly183Val)" "" "0000853960" "00008274" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Thr291Ile)" "" "0000853961" "00008274" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Lys127Glu)" "" "0000863769" "00008274" "30" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Leu4Phe)" "" "0000914266" "00008274" "50" "1330" "0" "1330" "0" "c.1330G>A" "r.(?)" "p.(Asp444Asn)" "" "0000981123" "00008274" "50" "-681" "0" "-681" "0" "c.-681T>C" "r.(?)" "p.(=)" "" "0000981124" "00008274" "30" "-732" "0" "-732" "0" "c.-732C>T" "r.(?)" "p.(=)" "" "0001001258" "00008274" "50" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Asp441Gly)" "" "0001001259" "00008274" "30" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0001001260" "00008274" "50" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139Cys)" "" "0001001261" "00008274" "50" "172" "0" "172" "0" "c.172G>T" "r.(?)" "p.(Gly58Cys)" "" "0001026420" "00008274" "50" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Arg389Gly)" "" "0001040236" "00008274" "30" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Ile448Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000050437" "0000079417" "0000089346" "0000147283" "0000089347" "0000147284" "0000089348" "0000147285" "0000089349" "0000147286" "0000089350" "0000147287" "0000089351" "0000147288" "0000089352" "0000147289" "0000303900" "0000667302" "0000307106" "0000673671"