### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABRB2) # 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}}" "GABRB2" "gamma-aminobutyric acid (GABA) A receptor, beta 2" "5" "q34" "unknown" "NC_000005.9" "UD_132612690218" "" "https://www.LOVD.nl/GABRB2" "" "1" "4082" "2561" "600232" "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/GABRB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-05 16:48:00" "00006" "2025-08-08 10:52:08" ## 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}}" "00008273" "GABRB2" "transcript variant 2" "001" "NM_000813.2" "" "NP_000804.1" "" "" "" "-218" "7077" "1425" "160975130" "160715436" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05435" "DEE92;IECEE2" "encephalopathy, developmental and epileptic, type92 (IECEE2)" "AD" "617829" "" "autosomal dominant" "" "00006" "2018-06-01 14:38:04" "00006" "2023-10-23 12:25:49" "05436" "IECEE" "encephalopathy, epileptic, infantile or early childhood (IECEE)" "" "" "" "" "" "00006" "2018-06-01 14:39:23" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GABRB2" "05435" "GABRB2" "05436" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00039396" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050151" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}, {PMID:Hamdan 2017:29100083}" "" "F" "no" "United States" "" "0" "" "" "" "Fam3PatII1;1242500" "00050206" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00177005" "" "" "" "1" "" "02552" "" "" "F" "no" "Switzerland" "" "0" "" "" "" "73324" "00269523" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "" "" "0" "" "" "" "" "00288205" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat15" "00427799" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29314583}" "family, 1 affected, unaffected carrier father" "F" "" "China" "" "0" "" "" "" "Pat278" "00433664" "" "" "" "2" "" "03544" "" "family with multiple affected individuals" "" "" "" "" "0" "" "" "" "family" "00438704" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "F" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0753" "00438733" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "K.02591" "00438734" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "CNSA01" "00438735" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "T21213B" "00438736" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "indvLB" "00438737" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "yes" "Iraq" "" "0" "" "" "" "T23211" "00438738" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "G64518" "00438739" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "Wales" "" "0" "" "" "" "HA076" "00438740" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "M" "" "" "" "0" "" "" "" "31841" "00438741" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "" "F" "" "" "" "0" "" "" "" "3001866" "00466207" "" "" "" "1" "" "01164" "" "" "F" "no" "Iraq" "" "0" "" "" "Kurdisch" "340374" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00039396" "00139" "00039396" "04282" "00050151" "00139" "00050206" "00198" "00177005" "00344" "00269523" "00344" "00288205" "00198" "00427799" "04270" "00433664" "06906" "00438704" "06906" "00438733" "06906" "00438734" "06906" "00438735" "06906" "00438736" "06906" "00438737" "06906" "00438738" "06906" "00438739" "06906" "00438740" "06906" "00438741" "06906" "00466207" "05435" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 04270, 04282, 05435, 05436, 06906 ## Count = 19 "{{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}}" "0000036763" "00139" "00050151" "01197" "Isolated (sporadic)" "" "no growth failure, behavioural anomalies, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000036818" "00198" "00050206" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000078830" "04282" "00039396" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000141823" "00344" "00177005" "02552" "Familial, autosomal dominant" "" "HP:0008936\r\nHP:0000490\r\nHP:0011228\r\nHP:0001763\r\nHP:0001053" "02y04m" "" "" "" "" "" "" "" "" "" "" "0000207354" "00344" "00269523" "03512" "Unknown" "" "Epileptic Encephalopathy(HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000221942" "00198" "00288205" "00006" "Isolated (sporadic)" "11y" "decreased body weight, microcephaly, failure to thrive, growth delay, high palate, coarse facial features, low anterior hairline, visual impairment, nystagmus, strabismus, hypotelorism, abnormal electroretinogram, amblyopia, thick eyebrow, synophrys, tapered finger, hypotonia, joint hypermobility, frequent falls, poor head control, ulnar deviation of the hand, malabsorption, hydronephrosis, pelvocaliectasis, enuresis, developmental delay, delayed speech, language development, autistic features, absent speech, seizures, dystonia, spasticity, intellectual disability, gait disturbance, encephalopathy, ataxia, status epilepticus, broad-based gait, gait imbalance, unsteady gait, hyperreflexia, poor fine motor coordination, EEG with central focal spikes, delayed myelination, abnormality of movement, feeding difficulties, chronic constipation" "" "" "" "" "" "" "" "" "" "" "" "0000318773" "04270" "00427799" "00006" "Unknown" "7y" "intellectual disability; tonic seizure, spasms, atypical absence, complex partial seizure, frequency 2-3/d; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain normal; resistant to antiepileptic drugs" "5m" "" "" "" "" "" "" "" "" "Lennox-Gastaut syndrome" "" "0000324087" "06906" "00433664" "03544" "Familial, autosomal dominant" "" "intellectual disability, speech delay, hyperactivity, EEG abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000328607" "06906" "00438704" "00006" "Isolated (sporadic)" "04y" "see paper; ..., severe global developmental delay; 4m-seizure; EEG bi-frontal predominance spike-wave, hypsarrhythmia, continuous diffuse spike-wave; MRI brain 9d/1y normal; acquired microcephaly, non-ambulation, axial hypotonia, spasticity, nystagmus, cortical visual impairment, intractable seizures" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328631" "06906" "00438733" "00006" "Isolated (sporadic)" "10y" "see paper; ..., global developmental delay, moderate intellectual disability; 6y-seizure; MRI brain normal; acquired microcephaly, no seizures (responded to valproic acid, off medication)" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328632" "06906" "00438734" "00006" "Isolated (sporadic)" "04y" "see paper; ..., global developmental delay, severe intellectual disability; 1d-seizure; EEG multifocal, slow background; MRI brain 1d/18m-diffuse T2 hypersignal white matter; acquired microcephaly, neonatal feeding difficulties, nonambulation, hypotonia, spasticity, dystonia, rare seizures under topiramate" "" "" "" "" "" "" "" "" "DEE92" "early-onset epileptic encephalopathy" "" "0000328633" "06906" "00438735" "00006" "Isolated (sporadic)" "14y06m" "see paper; ..., global developmental delay, severe intellectual disability; 4y-seizure; EEG bi-frontal predominance spike-wave or sharp spike-wave; MRI brain normal; acquired microcephaly, non-ambulation, hypotonia, intractable seizures" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328634" "06906" "00438736" "00006" "Isolated (sporadic)" "01y06m" "see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; severe psychomotor delay, generalized dyskinesia, dystonia, cortical visual impairment" "" "" "" "" "" "" "" "" "DEE92" "global developmental delay" "" "0000328635" "06906" "00438737" "00006" "Isolated (sporadic)" "05y01m" "see paper; ..., global developmental delay, severe intellectual disability; <5m seizure; EEG multifocal (bi-frontal predominance predominant), slow background; MRI brain delay in myelination, reduction white matter; congenital microcephaly, axial hypotonia, peripheral hypertonia, cortical visual impairment, choreoathetosis, dystonia, failure to thrive, intractable seizures" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328636" "06906" "00438738" "00006" "Isolated (sporadic)" "10y" "see paper; ..., global developmental delay, severe intellectual disability; 2y-seizure; EEG high-amplitude rhythmic slow waves; MRI brain 2y-mild increase in lateral ventricles, 3y-normal; acquired microcephaly, brisk reflexes, seizure control with lamotrigine" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328637" "06906" "00438739" "00006" "Isolated (sporadic)" "15y08m" "see paper; ..., severe global developmental delay, severe intellectual disability; 4y8m-seizure; EEG slow, rhythmic notched slow waves; MRI brain 2y-multifocal T2 hypersignal in white matter at 2 years, 4y9m-norma; spasticity, poor coordination, broad-base gait, seizure control with LVT and LTG" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000328638" "06906" "00438740" "00006" "Isolated (sporadic)" "00y00m17d" "see paper; ..., 17d-deceased; severe global developmental delay; 7d-seizure; EEG burst suppression; MRI brain normal; hypotonia, jitteriness, back arching, apneas, intractable seizures" "" "" "" "" "" "" "" "" "DEE92" "early myoclonic encephalopathy" "" "0000328639" "06906" "00438741" "00006" "Isolated (sporadic)" "01y09m" "see paper; ..., language delay; 12m-seizure; EEG normal; MRI brain normal; apneas, neuroendocrine cell hyperplasia of infancy, intractable seizures" "" "" "" "" "" "" "" "" "DEE92" "developmental and epileptic encephalopathy" "" "0000351590" "05435" "00466207" "01164" "Unknown" "11y" "Generalized-onset seizure, Febrile seizure outside the age of 3 months to 6 years, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039637" "00039396" "1" "01158" "01158" "2015-06-15 14:06:48" "" "" "SEQ-NG" "DNA" "" "" "0000050096" "00050151" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050151" "00050206" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000177898" "00177005" "1" "02552" "02552" "2018-08-16 10:44:53" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000270677" "00269523" "1" "03512" "03512" "2019-11-29 10:43:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000289374" "00288205" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000429122" "00427799" "1" "00006" "00006" "2022-12-13 13:20:24" "" "" "SEQ;SEQ-NG" "DNA" "" "target gene panel" "0000435122" "00433664" "1" "03544" "03544" "2023-03-12 20:18:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000440186" "00438704" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000440215" "00438733" "1" "00006" "00006" "2023-10-23 12:40:25" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440216" "00438734" "1" "00006" "00006" "2023-10-23 13:11:28" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000440217" "00438735" "1" "00006" "00006" "2023-10-23 13:17:23" "" "" "MIPsm" "DNA" "" "gene panel" "0000440218" "00438736" "1" "00006" "00006" "2023-10-23 13:20:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000440219" "00438737" "1" "00006" "00006" "2023-10-23 13:26:54" "" "" "MIP" "DNA" "" "" "0000440220" "00438738" "1" "00006" "00006" "2023-10-23 13:31:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000440221" "00438739" "1" "00006" "00006" "2023-10-23 13:36:02" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000440222" "00438740" "1" "00006" "00006" "2023-10-23 13:39:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000440223" "00438741" "1" "00006" "00006" "2023-10-23 13:43:11" "" "" "SEQ-NG" "DNA" "" "WES clinical" "0000467864" "00466207" "1" "01164" "01164" "2025-08-08 10:01:20" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000050096" "CHAMP1" "0000050151" "CLYBL" "0000289374" "GABRB2" "0000440219" "GABRB2" "0000467864" "GABRB2" ## 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 = 32 "{{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}}" "0000067242" "0" "70" "5" "160761837" "160761837" "subst" "0" "01158" "GABRB2_000001" "g.160761837G>C" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "De novo" "-" "" "0" "" "" "g.161334830G>C" "" "likely pathogenic" "" "0000288135" "0" "50" "5" "160763773" "160763773" "subst" "0" "01943" "GABRB2_000002" "g.160763773C>T" "" "" "" "GABRB2(NM_021911.2):c.545G>A (p.G182E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161336766C>T" "" "VUS" "" "0000400773" "0" "70" "5" "160761872" "160761872" "subst" "0" "02552" "GABRB2_000003" "g.160761872C>G" "" "{PMID:Papuc 2019:30552426}" "" "" "" "De novo" "" "" "0" "" "" "g.161334865C>G" "" "likely pathogenic (dominant)" "" "0000604460" "0" "70" "5" "160886715" "160886715" "subst" "0" "03512" "GABRB2_000005" "g.160886715C>G" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.161459709C>G" "" "likely pathogenic (dominant)" "" "0000621524" "0" "50" "5" "160761840" "160761840" "subst" "0" "02325" "GABRB2_000006" "g.160761840T>C" "" "" "" "GABRB2(NM_021911.3):c.751A>G (p.M251V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161334833T>C" "" "VUS" "" "0000645303" "0" "70" "5" "160758063" "160758063" "subst" "0" "00006" "GABRB2_000007" "g.160758063C>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.161331056C>T" "{CV:000837709.1}" "likely pathogenic (dominant)" "" "0000802008" "0" "50" "5" "160886646" "160886646" "subst" "0" "02327" "GABRB2_000008" "g.160886646C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802009" "0" "30" "5" "160973825" "160973825" "del" "0" "02326" "GABRB2_000004" "g.160973825del" "" "" "" "GABRB2(NM_021911.2):c.-152-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802010" "0" "10" "5" "160973825" "160973825" "dup" "0" "02326" "GABRB2_000009" "g.160973825dup" "" "" "" "GABRB2(NM_021911.2):c.-152-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850861" "0" "50" "5" "160753375" "160753375" "subst" "1.64562E-5" "01943" "GABRB2_000010" "g.160753375C>T" "" "" "" "GABRB2(NM_021911.2):c.1191G>A (p.T397=, p.(Thr397Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886724" "0" "50" "5" "160757991" "160757991" "subst" "0" "02325" "GABRB2_000011" "g.160757991C>G" "" "" "" "GABRB2(NM_021911.3):c.976G>C (p.V326L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886725" "0" "90" "5" "160886715" "160886715" "subst" "0" "02327" "GABRB2_000012" "g.160886715C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908544" "11" "50" "5" "0" "0" "" "0" "00006" "RAD50_000000" "g.?" "" "{PMID:Zhou 2018:29314583}" "" "L375F" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000921060" "21" "90" "5" "160758098" "160758098" "subst" "0" "03544" "GABRB2_000013" "g.160758098G>A" "" "" "" "" "segregation with the phenotype in a family with multiple affected individuals" "Germline" "yes" "" "0" "" "" "g.161331091G>A" "" "pathogenic (maternal)" "ACMG" "0000936344" "0" "90" "5" "160761861" "160761861" "subst" "0" "00006" "GABRB2_000014" "g.160761861A>G" "" "{PMID:Hamdan 2017:29100083}" "" "NM_021911:c.T730C (Y244H)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000936521" "0" "90" "5" "160972234" "160972234" "subst" "0" "00006" "GABRB2_000015" "g.160972234A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161545228A>G" "" "likely pathogenic (dominant)" "" "0000936523" "0" "70" "5" "160886715" "160886715" "subst" "0" "00006" "GABRB2_000012" "g.160886715C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161459709C>T" "" "likely pathogenic (dominant)" "" "0000936524" "0" "70" "5" "160758059" "160758059" "subst" "0" "00006" "GABRB2_000016" "g.160758059T>C" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161331052T>C" "" "likely pathogenic (dominant)" "" "0000936525" "0" "70" "5" "160758056" "160758056" "subst" "0" "00006" "GABRB2_000017" "g.160758056G>A" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.161331049G>A" "" "likely pathogenic (dominant)" "" "0000936526" "0" "70" "5" "160758089" "160758089" "subst" "0" "00006" "GABRB2_000018" "g.160758089C>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161331082C>G" "" "likely pathogenic (dominant)" "" "0000936527" "0" "70" "5" "160761861" "160761861" "subst" "0" "00006" "GABRB2_000014" "g.160761861A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161334854A>G" "" "likely pathogenic (dominant)" "" "0000936528" "0" "70" "5" "160761761" "160761761" "subst" "0" "00006" "GABRB2_000019" "g.160761761A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161334754A>G" "" "likely pathogenic (dominant)" "" "0000936529" "0" "70" "5" "160761761" "160761761" "subst" "0" "00006" "GABRB2_000019" "g.160761761A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161334754A>G" "" "likely pathogenic (dominant)" "" "0000936530" "0" "70" "5" "160758116" "160758116" "subst" "0" "00006" "GABRB2_000020" "g.160758116G>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161331109G>T" "" "likely pathogenic (dominant)" "" "0000936531" "0" "70" "5" "160758021" "160758021" "subst" "0" "00006" "GABRB2_000021" "g.160758021C>T" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161331014C>T" "" "likely pathogenic (dominant)" "" "0000936553" "0" "70" "5" "160972234" "160972234" "subst" "0" "00006" "GABRB2_000015" "g.160972234A>G" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.161545228A>G" "" "likely pathogenic (dominant)" "" "0000976700" "0" "50" "5" "160973805" "160973805" "subst" "0" "01804" "GABRB2_000022" "g.160973805G>T" "" "" "" "GABRB2(NM_000813.3):c.-152-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994848" "0" "50" "5" "160753375" "160753375" "subst" "1.64562E-5" "01804" "GABRB2_000010" "g.160753375C>T" "" "" "" "GABRB2(NM_021911.2):c.1191G>A (p.T397=, p.(Thr397Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994849" "0" "50" "5" "160753491" "160753491" "subst" "0" "01804" "GABRB2_000023" "g.160753491G>C" "" "" "" "GABRB2(NM_001371727.1):c.1078-3C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994850" "0" "50" "5" "160973403" "160973403" "subst" "0" "01804" "GABRB2_000024" "g.160973403T>C" "" "" "" "GABRB2(NM_000813.2):c.94A>G (p.(Asn32Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994851" "0" "50" "5" "160973705" "160973705" "subst" "0" "01804" "GABRB2_000025" "g.160973705G>C" "" "" "" "GABRB2(NM_000813.2):c.-56C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047257" "0" "90" "5" "160758011" "160758011" "subst" "0" "01164" "GABRB2_000026" "g.160758011G>A" "" "" "" "" "ACMG: PS4-supporting,PM1-moderate,PM2-supporting,PP2-supporting,PP3-moderate" "Germline" "?" "" "" "" "" "g.161331004G>A" "VCV001712337.1" "likely pathogenic (dominant)" "ACMG" ## 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 GABRB2 ## Count = 32 "{{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}}" "0000067242" "00008273" "70" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "8" "0000288135" "00008273" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Gly182Glu)" "" "0000400773" "00008273" "70" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.(Arg240Thr)" "" "0000604460" "00008273" "70" "373" "0" "373" "0" "c.373G>C" "r.(?)" "p.(Asp125His)" "" "0000621524" "00008273" "50" "751" "0" "751" "0" "c.751A>G" "r.(?)" "p.(Met251Val)" "" "0000645303" "00008273" "70" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Val302Met)" "" "0000802008" "00008273" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Val148Ile)" "" "0000802009" "00008273" "30" "-152" "-8" "-152" "-8" "c.-152-8del" "r.(=)" "p.(=)" "" "0000802010" "00008273" "10" "-152" "-8" "-152" "-8" "c.-152-8dup" "r.(=)" "p.(=)" "" "0000850861" "00008273" "50" "1077" "4515" "1077" "4515" "c.1077+4515G>A" "r.(=)" "p.(=)" "" "0000886724" "00008273" "50" "976" "0" "976" "0" "c.976G>C" "r.(?)" "p.(Val326Leu)" "" "0000886725" "00008273" "90" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Asp125Asn)" "" "0000908544" "00008273" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000921060" "00008273" "90" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Thr290Ile)" "" "0000936344" "00008273" "90" "730" "0" "730" "0" "c.730T>C" "r.(?)" "p.(Tyr244His)" "" "0000936521" "00008273" "90" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Met79Thr)" "" "0000936523" "00008273" "70" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Asp125Asn)" "" "0000936524" "00008273" "70" "908" "0" "908" "0" "c.908A>G" "r.(?)" "p.(Lys303Arg)" "" "0000936525" "00008273" "70" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ala304Val)" "" "0000936526" "00008273" "70" "878" "0" "878" "0" "c.878G>C" "r.(?)" "p.(Arg293Pro)" "" "0000936527" "00008273" "70" "730" "0" "730" "0" "c.730T>C" "r.(?)" "p.(Tyr244His)" "" "0000936528" "00008273" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Ser)" "" "0000936529" "00008273" "70" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Ser)" "" "0000936530" "00008273" "70" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Thr284Lys)" "" "0000936531" "00008273" "70" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Ile)" "" "0000936553" "00008273" "70" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Met79Thr)" "" "0000976700" "00008273" "50" "-152" "-4" "-152" "-4" "c.-152-4C>A" "r.spl?" "p.?" "" "0000994848" "00008273" "50" "1077" "4515" "1077" "4515" "c.1077+4515G>A" "r.(=)" "p.(=)" "" "0000994849" "00008273" "50" "1077" "4399" "1077" "4399" "c.1077+4399C>G" "r.(=)" "p.(=)" "" "0000994850" "00008273" "50" "94" "0" "94" "0" "c.94A>G" "r.(?)" "p.(Asn32Asp)" "" "0000994851" "00008273" "50" "-56" "0" "-56" "0" "c.-56C>G" "r.(?)" "p.(=)" "" "0001047257" "00008273" "90" "956" "0" "956" "0" "c.956C>T" "r.(?)" "p.(Ala319Val)" "9" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000039637" "0000067242" "0000050096" "0000936553" "0000050151" "0000936521" "0000177898" "0000400773" "0000270677" "0000604460" "0000289374" "0000645303" "0000429122" "0000908544" "0000435122" "0000921060" "0000440186" "0000936344" "0000440215" "0000936523" "0000440216" "0000936524" "0000440217" "0000936525" "0000440218" "0000936526" "0000440219" "0000936527" "0000440220" "0000936528" "0000440221" "0000936529" "0000440222" "0000936530" "0000440223" "0000936531" "0000467864" "0001047257"