### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GABRA1) # 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}}" "GABRA1" "gamma-aminobutyric acid (GABA) A receptor, alpha 1" "5" "q34" "unknown" "NG_011548.1" "UD_132118239760" "" "http://www.LOVD.nl/GABRA1" "" "1" "4075" "2554" "137160" "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/GABRA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-16 08:44:24" "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}}" "00008266" "GABRA1" "transcript variant 1" "001" "NM_000806.5" "" "NP_000797.2" "" "" "" "-468" "3908" "1371" "161274197" "161326965" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01952" "EJM" "epilepsy, myoclonic, juvenile (EJM)" "AD" "254770" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03012" "EIG13;EJM5" "epilepsy, idiopathic, generalized, susceptibility to, type 13 (EIG-13, epilepsy, myoclonic, juvenile, type 5 (EJM-5))" "" "611136" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04070" "EIEE19" "encephalopathy, epileptic, early infantile, type 19 (EIEE-19)" "AD" "615744" "" "" "" "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" "04298" "EIG" "epilepsy, idiopathic, generalized (EIG)" "" "" "" "" "" "00006" "2015-07-15 15:03:52" "" "" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05861" "NEDSWMA;CPSQ1" "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (CPSQ1)" "AR" "619026" "" "" "" "00006" "2020-10-23 08:54:34" "00006" "2023-12-06 12:38:41" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GABRA1" "03012" "GABRA1" "04070" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00074449" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Kodera 2016:10.1111/epi.13344}" "" "M" "no" "(Japan)" "" "0" "" "" "" "" "00074450" "" "" "" "1" "" "00729" "{PMID:Carvill 2014:24623842}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "F" "no" "" "" "0" "" "" "" "" "00074451" "" "" "" "1" "" "00729" "{PMID:Carvill 2014:24623842}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "M" "no" "" "" "0" "" "" "" "" "00074452" "" "" "" "1" "" "00729" "{PMID:Carvill 2014:24623842}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "F" "no" "" "" "0" "" "" "" "" "00074453" "" "" "" "1" "" "00729" "{PMID:Carvill 2014:24623842}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "M" "no" "" "" "0" "" "" "" "" "00074454" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Kodera 2016: 10.1111/epi.13344}" "" "F" "no" "(Japan)" "" "0" "" "" "" "" "00074455" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Kodera 2016: 10.1111/epi.13344}" "" "F" "no" "(Japan)" "" "0" "" "" "" "" "00074456" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "M" "no" "(Japan)" "01y" "0" "" "" "" "" "00074457" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "F" "no" "(Japan)" "" "0" "" "" "" "" "00074458" "" "" "" "1" "" "00729" "{PMID:Kodera 2016:26918889}, {DOI:Carvill 2014:10.1212/WNL.0000000000000291}" "" "M" "no" "(Japan)" "" "0" "" "" "" "" "00074459" "" "" "" "1" "" "00729" "{DOI:McRae 2016:dx.doi.org/10.1101/049056}" "" "F" "?" "" "" "0" "" "" "" "" "00074460" "" "" "" "1" "" "00729" "{DOI:McRae 2016:dx.doi.org/10.1101/049056}" "" "F" "?" "" "" "0" "" "" "" "" "00074461" "" "" "" "1" "" "00729" "{PMID:Epi4K Consortium. 2013:23934111}, {DOI:Epi4K Consortium. 2013:10.1038/nature12439}" "" "M" "no" "" "" "0" "" "" "" "" "00074462" "" "" "" "1" "" "00729" "{PMID:Maljevic 2006:16718694}, {DOI:Maljevic 2006:10.1002/ana.20874}" "" "M" "no" "Germany" "" "0" "" "" "white" "" "00074463" "" "" "" "1" "" "00729" "{PMID:Iossifov 2014:25363768}, {DOI:Iossifov 2014:10.1038/nature13908}" "" "M" "no" "" "" "0" "" "" "" "" "00074464" "" "" "" "1" "" "00729" "" "" "M" "no" "Germany" "" "0" "" "" "white" "" "00074465" "" "" "" "8" "" "00729" "{PMID:Cossette 2002:11992121}, {DOI:Cossette 2002:10.1038/ng885}" "" "-" "no" "Canada" "" "0" "" "" "white" "" "00074466" "" "" "" "4" "" "00729" "{PMID:Lachance-Touchette 2011:21714819}, {DOI:Lachance-Touchette 2011:10.1111/j.1460-9568.2011.07767.x}" "" "-" "no" "(Canada)" "" "0" "" "" "white" "" "00074467" "" "" "" "4" "" "00729" "{PMID:Lachance-Touchette 2011:21714819}, {DOI:Lachance-Touchette 2011:10.1111/j.1460-9568.2011.07767.x}" "" "-" "no" "Canada" "" "0" "" "" "white" "" "00074468" "" "" "" "1" "" "00729" "{PMID:Klassen 2011:21703448}, {DOI:Klassen 2011:10.1016/j.cell.2011.05.025}" "" "?" "" "" "" "0" "" "" "" "" "00116905" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_315:0/1:CONTROL" "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" "00438282" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "273560" "00440414" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2237.1" "00455761" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00074449" "04070" "00074450" "04070" "00074451" "04070" "00074452" "04070" "00074453" "04070" "00074454" "04070" "00074455" "04070" "00074456" "04070" "00074457" "04070" "00074458" "04070" "00074459" "05162" "00074460" "05162" "00074461" "04070" "00074462" "04270" "00074463" "05162" "00074464" "04070" "00074465" "01952" "00074466" "04298" "00074467" "04298" "00074468" "04298" "00116905" "00000" "00117111" "00000" "00438282" "05861" "00440414" "00198" "00455761" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01952, 03012, 04070, 04270, 04298, 05162, 05861 ## Count = 23 "{{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}}" "0000054272" "04070" "00074449" "00729" "Isolated (sporadic)" "04y" "4y old male with infantile epilepsy." "04y" "" "11m" "" "" "" "" "" "" "" "" "0000054273" "04070" "00074450" "00729" "Isolated (sporadic)" "07y" "7y old female patient with seizures and moderate ID." "00y11m" "07y" "" "" "" "" "" "" "" "" "" "0000054274" "04070" "00074451" "00729" "Isolated (sporadic)" "01y06m" "18 months old male with seizures staring with 11 months and moderate ID. Calcified subependymal nodule in left lateral ventricle." "00y11m" "01y06m" "" "" "" "" "" "" "" "" "" "0000054275" "04070" "00074452" "00729" "Isolated (sporadic)" "02y" "2y old female with seizure onset at 8m of age and mild developmental delay." "00y08m" "02y" "" "" "" "" "" "" "" "" "" "0000054276" "00841" "00074453" "00729" "Isolated (sporadic)" "18y" "18y old male with seizures tarting from 8m of age and mild ID." "00y08m" "18y" "" "" "" "" "" "" "" "" "" "0000054277" "00841" "00074454" "00729" "Isolated (sporadic)" "08y" "8y old female with seizures and encephalopathy with onset at age 4m and severe ID with regression." "00y04m" "08y" "" "" "" "" "" "" "" "" "" "0000054278" "04070" "00074455" "00729" "Isolated (sporadic)" "05y11m" "6y old female with seizure onset at age 1m and severe ID." "00y01m" "05y11m" "" "" "" "" "" "" "" "" "" "0000054279" "04070" "00074456" "00729" "Isolated (sporadic)" "01y" "Male patient with severe seizures from 1.5m of age and severe ID who died at age of 1y," "00y02m" "01y" "" "" "" "" "" "" "" "" "" "0000054280" "04070" "00074457" "00729" "Isolated (sporadic)" "09y" "9y old female with seizres from age 6m and sever ID." "00y06m" "09y" "" "" "" "" "" "" "" "" "" "0000054281" "04070" "00074458" "00729" "Isolated (sporadic)" "10y" "10y old male with seizure onset at age 7m and sever ID." "00y07m" "10y" "" "" "" "" "" "" "" "" "" "0000054282" "05162" "00074459" "00729" "Isolated (sporadic)" "" "Female patient with delayed speech and language development,moderate global developmental delay and minor dysmorphic features." "" "" "" "" "" "" "" "" "" "" "" "0000054283" "05162" "00074460" "00729" "Isolated (sporadic)" "" "Female patient with seizures moderate global developmental delay and macrocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000054284" "04070" "00074461" "00729" "Isolated (sporadic)" "" "Male patient with seizure onset at age 1m and delayed development." "00y01m" "" "" "" "" "" "" "" "" "" "" "0000054285" "04070" "00074462" "00729" "Isolated (sporadic)" "18y" "18y old male patient with childhood absence epilepsy starting at age 3y." "03y" "18y" "" "" "" "" "" "" "" "" "" "0000054286" "05162" "00074463" "00729" "Isolated (sporadic)" "" "Male patient wit autism spectrum disorder and developmental delay." "" "" "" "" "" "" "" "" "" "" "" "0000054287" "04070" "00074464" "00729" "Isolated (sporadic)" "01y02m" "1y2m old male patient with Williams-Beuren syndrome, early infantile epileptic encephalopathy with seizures from age 5m and delayed develompent." "00y05m" "01y02m" "" "" "" "" "" "" "" "" "" "0000054288" "01952" "00074465" "00729" "Familial, autosomal dominant" "" "The clinical features of the epileptic syndrome are homogeneous in all 8 affected members of the family over four generations. . We assessed individuals I-01 and II-03 indirectly via individual II-04. The phenotype of individuals I-01 and II-03 seems to be compatible with JME. Individual IV-02 has EEG abnormalities (photosensitivity), but does not present clinical seizures." "" "" "" "" "" "" "" "" "" "" "" "0000054289" "04298" "00074466" "00729" "Familial, autosomal dominant" "" "Four affected family members over two generations with idiopathic generalizedepilepsy." "" "" "" "" "" "" "" "" "" "" "" "0000054290" "04298" "00074467" "00729" "Familial, autosomal dominant" "" "Four affected individuals over two generations with idiopathic generalizedepilepsy." "" "" "" "" "" "" "" "" "" "" "" "0000054291" "04298" "00074468" "00729" "Unknown" "" "Individual with sporadic idiopathic epilepsy not further described." "" "" "" "" "" "" "" "" "" "" "" "0000328186" "05861" "00438282" "01164" "Isolated (sporadic)" "15y" "Intellectual disability, Heterotropia, Seizure, Secondary microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000330324" "00198" "00440414" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Early infantile epileptic encephalopathy-19 (MIM #615744)" "" "" "0000344294" "00198" "00455761" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DEE19" "neurogenetic diseases" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000074612" "00074449" "1" "00729" "00729" "2016-07-03 08:51:46" "" "" "SEQ-NG" "DNA" "" "" "0000074613" "00074450" "1" "00729" "00729" "2016-07-03 09:16:16" "" "" "SEQ-NG" "DNA" "" "" "0000074614" "00074451" "1" "00729" "00729" "2016-07-03 09:22:56" "" "" "SEQ-NG" "DNA" "" "" "0000074615" "00074452" "1" "00729" "00729" "2016-07-03 09:47:22" "" "" "SEQ-NG" "DNA" "" "" "0000074616" "00074453" "1" "00729" "00729" "2016-07-03 10:00:16" "" "" "SEQ-NG" "DNA" "" "" "0000074617" "00074454" "1" "00729" "00729" "2016-07-03 10:12:29" "" "" "SEQ-NG" "DNA" "" "" "0000074618" "00074455" "1" "00729" "00729" "2016-07-03 10:16:34" "" "" "SEQ-NG" "DNA" "" "" "0000074619" "00074456" "1" "00729" "00729" "2016-07-03 11:06:24" "" "" "SEQ-NG" "DNA" "" "" "0000074620" "00074457" "1" "00729" "00729" "2016-07-03 11:13:30" "" "" "SEQ-NG" "DNA" "" "" "0000074621" "00074458" "1" "00729" "00729" "2016-07-03 11:56:17" "" "" "SEQ-NG" "DNA" "" "" "0000074622" "00074459" "1" "00729" "00729" "2016-07-03 12:15:59" "" "" "SEQ-NG" "DNA" "" "" "0000074623" "00074460" "1" "00729" "00729" "2016-07-03 12:22:10" "" "" "SEQ-NG" "DNA" "" "" "0000074624" "00074461" "1" "00729" "00729" "2016-07-03 12:33:30" "" "" "SEQ-NG" "DNA" "" "" "0000074625" "00074462" "1" "00729" "00729" "2016-07-03 12:47:59" "" "" "SEQ" "DNA" "" "" "0000074626" "00074463" "1" "00729" "00729" "2016-07-03 12:59:41" "" "" "SEQ-NG" "DNA" "" "" "0000074627" "00074464" "1" "00729" "00729" "2016-07-03 13:05:36" "" "" "SEQ-NG" "DNA" "" "" "0000074628" "00074465" "1" "00729" "00729" "2016-07-03 13:24:37" "" "" "SEQ" "DNA" "" "" "0000074629" "00074466" "1" "00729" "00729" "2016-07-03 13:49:12" "" "" "SEQ" "DNA" "" "" "0000074630" "00074467" "1" "00729" "00729" "2016-07-03 13:55:41" "" "" "SEQ" "DNA" "" "" "0000074631" "00074468" "1" "00729" "00729" "2016-07-03 14:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000117373" "00116905" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117495" "00117111" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000439764" "00438282" "1" "01164" "01164" "2023-10-20 17:01:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000441899" "00440414" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000457377" "00455761" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000074612" "GABRA1" "0000074613" "GABRA1" "0000074614" "GABRA1" "0000074615" "GABRA1" "0000074616" "GABRA1" "0000074617" "GABRA1" "0000074618" "GABRA1" "0000074619" "GABRA1" "0000074620" "GABRA1" "0000074621" "GABRA1" "0000074622" "GABRA1" "0000074623" "GABRA1" "0000074624" "GABRA1" "0000074625" "GABRA1" "0000074626" "GABRA1" "0000074627" "GABRA1" "0000074628" "GABRA1" "0000074629" "GABRA1" "0000074630" "GABRA1" "0000074631" "GABRA1" "0000439764" "GABRA1" "0000439764" "HPDL" ## 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 = 78 "{{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}}" "0000119326" "0" "99" "5" "161300202" "161300202" "subst" "0" "00729" "GABRA1_000001" "g.161300202G>A" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Kodera et al. 2016:10.1111/epi.13344}, {CVvar:127074}, {OMIM137160:0004}" "" "c.335G>A (p.R112Q)" "" "De novo" "yes" "rs587777308" "0" "" "" "g.161873196G>A" "" "pathogenic" "ACMG" "0000119327" "0" "99" "5" "161300202" "161300202" "subst" "0" "00729" "GABRA1_000001" "g.161300202G>A" "" "{PMID:Carvill et al. 2014:24623842}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291},{CV:127074}, {OMIM137160:0004}" "" "c.335G>A Arg112Gln" "" "Unknown" "-" "rs587777308" "0" "" "" "g.161873196G>A" "" "pathogenic" "ACMG" "0000119328" "0" "99" "5" "161300202" "161300202" "subst" "0" "00729" "GABRA1_000001" "g.161300202G>A" "" "{PMID:Carvill et al. 2014:24623842}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}, {CV:127074}, {OMIM137160:0004}" "" "c.335G>A Arg112Gln" "" "De novo" "yes" "rs587777308" "0" "" "" "g.161873196G>A" "" "pathogenic" "" "0000119329" "0" "99" "5" "161317951" "161317951" "subst" "0" "00729" "GABRA1_000002" "g.161317951G>A" "" "{PMID:Carvill et al. 2014:24623842}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}, {CV:127073}, {OMIM137160:0003}" "" "c.751G>A Gly251Ser" "" "De novo" "yes" "rs587777307" "0" "" "" "g.161890945G>A" "" "pathogenic" "ACMG" "0000119330" "0" "77" "5" "161322732" "161322732" "subst" "0" "00729" "GABRA1_000003" "g.161322732A>C" "" "{PMID:Carvill et al. 2014:24623842}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}, {CV:127075}, {OMIM137160:0005}" "" "c.917A>C Lys306Thr" "" "De novo" "yes" "rs587777309" "0" "" "" "g.161895726A>C" "" "likely pathogenic" "ACMG" "0000119331" "0" "77" "5" "161317979" "161317979" "subst" "0" "00729" "GABRA1_000004" "g.161317979C>T" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Kodera et al. 2016: 10.1111/epi.13344}" "" "c.779C>T (p.P260L)" "" "De novo" "yes" "" "0" "" "" "g.161890973C>T" "" "pathogenic" "ACMG" "0000119332" "0" "77" "5" "161317979" "161317979" "subst" "0" "00729" "GABRA1_000004" "g.161317979C>T" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Kodera et al. 2016: 10.1111/epi.13344}" "" "" "" "De novo" "yes" "" "0" "" "" "g.161890973C>T" "" "pathogenic" "ACMG" "0000119333" "0" "77" "5" "161317988" "161317988" "subst" "0" "00729" "GABRA1_000005" "g.161317988T>C" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}, {CV:205520}" "" "c.788T>C (p.M263T)" "" "De novo" "yes" "rs796052491" "0" "" "" "g.161890982T>C" "" "pathogenic" "ACMG" "0000119334" "0" "77" "5" "161317989" "161317989" "subst" "0" "00729" "GABRA1_000006" "g.161317989G>C" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}" "" "c.789G>C (p.M263I)" "" "De novo" "yes" "" "0" "" "" "g.161890983G>C" "" "pathogenic" "ACMG" "0000119335" "0" "73" "5" "161322674" "161322674" "subst" "0" "00729" "GABRA1_000007" "g.161322674G>T" "" "{PMID:Kodera et al. 2016:26918889}, {DOI:Carvill et al. 2014:10.1212/WNL.0000000000000291}" "" "c.859G>T (p.V287L)" "" "De novo" "yes" "" "0" "" "" "g.161895668G>T" "" "pathogenic" "ACMG" "0000119336" "0" "77" "5" "161318024" "161318024" "subst" "0" "00729" "GABRA1_000008" "g.161318024A>G" "" "{DOI:McRae et al. 2016:dx.doi.org/10.1101/049056}" "" "5:161318024A>G" "" "De novo" "yes" "" "0" "" "" "g.161891018A>G" "" "likely pathogenic" "ACMG" "0000119337" "0" "77" "5" "161322692" "161322692" "subst" "0" "00729" "GABRA1_000009" "g.161322692A>C" "" "{DOI:McRae et al. 2016:dx.doi.org/10.1101/049056}" "" "5:161322692A>C" "" "De novo" "yes" "" "0" "" "" "g.161895686A>C" "" "pathogenic" "ACMG" "0000119338" "0" "77" "5" "161322690" "161322690" "subst" "0" "00729" "GABRA1_000010" "g.161322690C>T" "" "{PMID:Epi4K Consortium. 2013:23934111}, {DOI:Epi4K Consortium. 2013:10.1038/nature12439}" "" "5:161322690C/T" "" "De novo" "yes" "" "0" "" "" "g.161895684C>T" "" "pathogenic" "ACMG" "0000119339" "0" "99" "5" "161322790" "161322790" "del" "0" "00729" "GABRA1_000011" "g.161322790del" "" "{PMID:Maljevic et al. 2006:16718694}, {DOI:Maljevic et al. 2006:10.1002/ana.20874}, {CV:16215}, {OMIM137160:0002}" "" "c.975delC (S326fs328X)" "" "De novo" "yes" "" "0" "" "" "g.161895784del" "" "pathogenic" "ACMG" "0000119340" "0" "77" "5" "161324370" "161324370" "subst" "0" "00729" "GABRA1_000012" "g.161324370A>G" "" "{PMID:Iossifov et al. 2014:25363768}, {DOI:Iossifov et al. 2014:10.1038/nature13908}" "" "5:161324370:A:G" "" "De novo" "yes" "" "0" "" "" "g.161897364A>G" "" "likely pathogenic" "ACMG" "0000119341" "0" "77" "5" "161324257" "161324257" "del" "0" "00729" "GABRA1_000013" "g.161324257del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.161897251del" "" "pathogenic" "ACMG" "0000119342" "0" "99" "5" "161322780" "161322780" "subst" "0" "00729" "GABRA1_000014" "g.161322780C>A" "" "{PMID:Cossette et al. 2002:11992121}, {DOI:Cossette et al. 2002:10.1038/ng885}, {CV:16214}, {OMIM137160:0001}" "" "Ala322Asp" "" "Germline" "yes" "rs121434579" "0" "" "" "g.161895774C>A" "" "pathogenic" "ACMG" "0000119343" "0" "99" "5" "161309659" "161309659" "subst" "0" "00729" "GABRA1_000015" "g.161309659G>A" "" "{PMID:Lachance-Touchette et al. 2011:21714819}, {DOI:Lachance-Touchette et al. 2011:10.1111/j.1460-9568.2011.07767.x}, {CV:127232}, {OMIM137160:0007}" "" "D219N" "" "Germline" "yes" "rs587777364" "0" "" "" "g.161882653G>A" "" "likely pathogenic" "ACMG" "0000119344" "0" "99" "5" "161324096" "161324097" "ins" "0" "00729" "GABRA1_000016" "g.161324096_161324097insTGTTTACTAAACAAAAAGAAAGAGC" "" "{PMID:Lachance-Touchette et al. 2011:21714819}, {DOI:Lachance-Touchette et al. 2011:10.1111/j.1460-9568.2011.07767.x}, {CV:127231}, {OMIM137160:0006}" "" "g.161256674_161256675ins25, K353delins18X" "" "Germline" "yes" "rs587777363" "0" "" "" "g.161897090_161897091insTGTTTACTAAACAAAAAGAAAGAGC" "" "pathogenic" "ACMG" "0000119345" "0" "33" "5" "161277875" "161277875" "subst" "4.06415E-5" "00729" "GABRA1_000017" "g.161277875C>T" "" "{PMID:Klassen et al. 2011:21703448}, {DOI:Klassen et al. 2011:10.1016/j.cell.2011.05.025}" "" "T20I, chr5:161210453C/T" "" "Unknown" "?" "rs756553428" "0" "" "" "g.161850869C>T" "" "VUS" "ACMG" "0000188218" "0" "50" "5" "161324408" "161324408" "subst" "4.06719E-6" "02192" "GABRA1_000019" "g.161324408G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.161897402G>A" "" "VUS" "" "0000188424" "0" "50" "5" "161309615" "161309615" "subst" "4.06977E-6" "02192" "GABRA1_000018" "g.161309615G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.161882609G>A" "" "VUS" "" "0000251344" "0" "30" "5" "161309395" "161309395" "del" "0" "02326" "GABRA1_000029" "g.161309395del" "" "" "" "GABRA1(NM_000806.5):c.560-169delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161882389del" "" "likely benign" "" "0000251345" "0" "10" "5" "161318123" "161318123" "subst" "0" "02326" "GABRA1_000032" "g.161318123A>G" "" "" "" "GABRA1(NM_000806.5):c.856+67A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161891117A>G" "" "benign" "" "0000252097" "0" "30" "5" "161309779" "161309779" "subst" "0" "02326" "GABRA1_000031" "g.161309779A>T" "" "" "" "GABRA1(NM_000806.5):c.703+72A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161882773A>T" "" "likely benign" "" "0000252597" "0" "90" "5" "161322777" "161322777" "subst" "0" "02326" "GABRA1_000038" "g.161322777A>G" "" "" "" "GABRA1(NM_000806.5):c.962A>G (p.Y321C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895771A>G" "" "pathogenic" "" "0000280959" "0" "10" "5" "161322889" "161322889" "subst" "0.621807" "02325" "GABRA1_000039" "g.161322889G>A" "" "" "" "GABRA1(NM_001127644.2):c.1059+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895883G>A" "" "benign" "" "0000280960" "0" "30" "5" "161324212" "161324212" "subst" "0.000573614" "02325" "GABRA1_000040" "g.161324212C>A" "" "" "" "GABRA1(NM_001127644.2):c.1155C>A (p.G385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161897206C>A" "" "likely benign" "" "0000280961" "0" "30" "5" "161302590" "161302590" "subst" "0.000573427" "02325" "GABRA1_000027" "g.161302590G>A" "" "" "" "GABRA1(NM_000806.5):c.501G>A (p.P167=), GABRA1(NM_001127644.2):c.501G>A (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161875584G>A" "" "likely benign" "" "0000284503" "0" "30" "5" "161281192" "161281192" "subst" "4.07442E-6" "02326" "GABRA1_000022" "g.161281192C>A" "" "" "" "GABRA1(NM_000806.5):c.103C>A (p.L35I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161854186C>A" "" "likely benign" "" "0000284504" "0" "70" "5" "161300135" "161300135" "subst" "0" "02326" "GABRA1_000023" "g.161300135G>C" "" "" "" "GABRA1(NM_000806.5):c.268G>C (p.D90H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873129G>C" "" "likely pathogenic" "" "0000284505" "0" "70" "5" "161300138" "161300138" "subst" "0" "02326" "GABRA1_000024" "g.161300138G>T" "" "" "" "GABRA1(NM_000806.5):c.271G>T (p.V91L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873132G>T" "" "likely pathogenic" "" "0000284506" "0" "70" "5" "161300306" "161300306" "subst" "0" "02326" "GABRA1_000025" "g.161300306C>G" "" "" "" "GABRA1(NM_000806.5):c.439C>G (p.R147G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873300C>G" "" "likely pathogenic" "" "0000284507" "0" "30" "5" "161300386" "161300386" "subst" "0" "02326" "GABRA1_000026" "g.161300386C>A" "" "" "" "GABRA1(NM_000806.5):c.476+43C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873380C>A" "" "likely benign" "" "0000284508" "0" "10" "5" "161309424" "161309424" "subst" "0" "02326" "GABRA1_000030" "g.161309424T>A" "" "" "" "GABRA1(NM_000806.5):c.560-140T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161882418T>A" "" "benign" "" "0000284509" "0" "30" "5" "161281052" "161281052" "subst" "0" "02326" "GABRA1_000020" "g.161281052G>A" "" "" "" "GABRA1(NM_000806.5):c.75-112G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161854046G>A" "" "likely benign" "" "0000284510" "0" "30" "5" "161281078" "161281078" "subst" "0" "02326" "GABRA1_000021" "g.161281078G>C" "" "" "" "GABRA1(NM_000806.5):c.75-86G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161854072G>C" "" "likely benign" "" "0000284511" "0" "10" "5" "161322662" "161322662" "subst" "0" "02326" "GABRA1_000035" "g.161322662T>C" "" "" "" "GABRA1(NM_000806.5):c.857-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895656T>C" "" "benign" "" "0000284512" "0" "10" "5" "161322663" "161322663" "del" "0" "02326" "GABRA1_000034" "g.161322663del" "" "" "" "GABRA1(NM_000806.5):c.857-9delT, GABRA1(NM_001127644.2):c.857-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895657del" "" "benign" "" "0000284513" "0" "10" "5" "161322616" "161322616" "subst" "0" "02326" "GABRA1_000033" "g.161322616T>A" "" "" "" "GABRA1(NM_000806.5):c.857-56T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895610T>A" "" "benign" "" "0000284514" "0" "30" "5" "161322666" "161322666" "subst" "0" "02326" "GABRA1_000036" "g.161322666T>G" "" "" "" "GABRA1(NM_000806.5):c.857-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895660T>G" "" "likely benign" "" "0000284515" "0" "70" "5" "161322726" "161322726" "subst" "0" "02326" "GABRA1_000037" "g.161322726T>C" "" "" "" "GABRA1(NM_000806.5):c.911T>C (p.L304P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895720T>C" "" "likely pathogenic" "" "0000341737" "0" "90" "5" "161300202" "161300202" "subst" "0" "02327" "GABRA1_000001" "g.161300202G>A" "" "" "" "GABRA1(NM_001127644.2):c.335G>A (p.R112Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873196G>A" "" "pathogenic" "" "0000348901" "0" "70" "5" "161318033" "161318033" "subst" "0" "02327" "GABRA1_000042" "g.161318033C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161891027C>A" "" "likely pathogenic" "" "0000349246" "0" "50" "5" "161300193" "161300193" "subst" "0" "02327" "GABRA1_000041" "g.161300193C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161873187C>T" "" "VUS" "" "0000349416" "0" "50" "5" "161322678" "161322678" "subst" "0" "02327" "GABRA1_000043" "g.161322678C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895672C>T" "" "VUS" "" "0000349782" "0" "50" "5" "161322845" "161322845" "subst" "0" "02327" "GABRA1_000044" "g.161322845T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161895839T>A" "" "VUS" "" "0000525092" "0" "70" "5" "161281215" "161281215" "subst" "0" "02329" "GABRA1_000045" "g.161281215C>G" "" "" "" "GABRA1(NM_001127644.2):c.126C>G (p.F42L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161854209C>G" "" "likely pathogenic" "" "0000525093" "0" "10" "5" "161281462" "161281462" "subst" "0" "02326" "GABRA1_000046" "g.161281462A>T" "" "" "" "GABRA1(NM_000806.5):c.187+186A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161854456A>T" "" "benign" "" "0000525094" "0" "50" "5" "161300148" "161300148" "subst" "0" "02327" "GABRA1_000047" "g.161300148G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161873142G>A" "" "VUS" "" "0000525095" "0" "30" "5" "161302590" "161302590" "subst" "0.000573427" "01943" "GABRA1_000027" "g.161302590G>A" "" "" "" "GABRA1(NM_000806.5):c.501G>A (p.P167=), GABRA1(NM_001127644.2):c.501G>A (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161875584G>A" "" "likely benign" "" "0000525096" "0" "30" "5" "161309706" "161309706" "subst" "4.07339E-6" "02327" "GABRA1_000048" "g.161309706A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161882700A>G" "" "likely benign" "" "0000525097" "0" "10" "5" "161322663" "161322663" "del" "0" "02325" "GABRA1_000034" "g.161322663del" "" "" "" "GABRA1(NM_000806.5):c.857-9delT, GABRA1(NM_001127644.2):c.857-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161895657del" "" "benign" "" "0000525098" "0" "30" "5" "161322664" "161322664" "subst" "0" "01804" "GABRA1_000049" "g.161322664C>T" "" "" "" "GABRA1(NM_000806.5):c.857-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161895658C>T" "" "likely benign" "" "0000525099" "0" "30" "5" "161322669" "161322669" "subst" "1.22332E-5" "01804" "GABRA1_000050" "g.161322669C>T" "" "" "" "GABRA1(NM_000806.5):c.857-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161895663C>T" "" "likely benign" "" "0000525100" "0" "30" "5" "161322769" "161322769" "subst" "0.000223437" "02326" "GABRA1_000051" "g.161322769C>T" "" "" "" "GABRA1(NM_000806.5):c.954C>T (p.A318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161895763C>T" "" "likely benign" "" "0000525101" "0" "50" "5" "161322809" "161322809" "subst" "0" "01943" "GABRA1_000052" "g.161322809G>A" "" "" "" "GABRA1(NM_001127644.2):c.994G>A (p.A332T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161895803G>A" "" "VUS" "" "0000525102" "0" "50" "5" "161324208" "161324208" "subst" "4.06908E-6" "02327" "GABRA1_000053" "g.161324208C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161897202C>T" "" "VUS" "" "0000525103" "0" "30" "5" "161324212" "161324212" "subst" "0.000573614" "01943" "GABRA1_000040" "g.161324212C>A" "" "" "" "GABRA1(NM_001127644.2):c.1155C>A (p.G385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161897206C>A" "" "likely benign" "" "0000609617" "0" "50" "5" "161300178" "161300178" "subst" "0" "02327" "GABRA1_000054" "g.161300178T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161873172T>G" "" "VUS" "" "0000609618" "0" "90" "5" "161300202" "161300202" "subst" "0" "02329" "GABRA1_000001" "g.161300202G>A" "" "" "" "GABRA1(NM_001127644.2):c.335G>A (p.R112Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161873196G>A" "" "pathogenic" "" "0000609619" "0" "50" "5" "161300331" "161300331" "subst" "0" "02325" "GABRA1_000055" "g.161300331T>C" "" "" "" "GABRA1(NM_001127644.2):c.464T>C (p.L155P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161873325T>C" "" "VUS" "" "0000609620" "0" "50" "5" "161309696" "161309696" "subst" "0" "02329" "GABRA1_000056" "g.161309696A>G" "" "" "" "GABRA1(NM_001127644.2):c.692A>G (p.Q231R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161882690A>G" "" "VUS" "" "0000655345" "0" "70" "5" "161317954" "161317954" "subst" "0" "02327" "GABRA1_000057" "g.161317954T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161890948T>C" "" "likely pathogenic" "" "0000802011" "0" "30" "5" "161318046" "161318046" "subst" "3.65901E-5" "02326" "GABRA1_000058" "g.161318046A>G" "" "" "" "GABRA1(NM_001127644.2):c.846A>G (p.R282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802012" "0" "30" "5" "161322781" "161322781" "subst" "4.87472E-5" "02326" "GABRA1_000059" "g.161322781C>T" "" "" "" "GABRA1(NM_000806.5):c.966C>T (p.A322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886726" "0" "50" "5" "161322695" "161322695" "subst" "0" "02329" "GABRA1_000060" "g.161322695A>G" "" "" "" "GABRA1(NM_000806.5):c.880A>G (p.T294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886727" "0" "50" "5" "161324161" "161324161" "subst" "4.06828E-6" "02325" "GABRA1_000061" "g.161324161C>G" "" "" "" "GABRA1(NM_000806.5):c.1104C>G (p.Y368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935891" "0" "50" "5" "161281255" "161281255" "subst" "0" "01164" "GABRA1_000062" "g.161281255C>T" "" "" "" "" "ACMG: PS2_SUP, PM2_SUP, PP2, PP3" "De novo" "-" "" "" "" "" "g.161854249C>T" "" "VUS" "ACMG" "0000939841" "0" "70" "5" "161324264" "161324264" "subst" "8.13491E-6" "00006" "GABRA1_000063" "g.161324264G>C" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.161897258G>C" "" "likely pathogenic (dominant)" "" "0000976701" "0" "30" "5" "161281174" "161281174" "subst" "2.45048E-5" "01804" "GABRA1_000064" "g.161281174C>T" "" "" "" "GABRA1(NM_001127644.2):c.85C>T (p.(Pro29Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994852" "0" "30" "5" "161317927" "161317927" "subst" "0" "01804" "GABRA1_000065" "g.161317927C>T" "" "" "" "GABRA1(NM_001127644.1):c.727C>T (p.(His243Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994853" "0" "30" "5" "161324282" "161324282" "subst" "1.62648E-5" "01804" "GABRA1_000066" "g.161324282C>T" "" "" "" "GABRA1(NM_001127644.1):c.1225C>T (p.(Pro409Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011880" "0" "90" "5" "161317963" "161317963" "subst" "0" "00006" "GABRA1_000067" "g.161317963A>T" "" "{PMID:Salinas 2020:33084218}" "" "NM_001127648:c.763A>T" "" "Unknown" "" "" "0" "" "" "g.161890957A>T" "SUB7797527" "pathogenic" "" "0001014104" "0" "30" "5" "161277906" "161277906" "del" "0" "02326" "GABRA1_000068" "g.161277906del" "" "" "" "GABRA1(NM_000806.5):c.74+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014105" "0" "30" "5" "161281192" "161281192" "subst" "4.07442E-6" "02325" "GABRA1_000022" "g.161281192C>A" "" "" "" "GABRA1(NM_000806.5):c.103C>A (p.L35I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025062" "0" "50" "5" "161318012" "161318012" "subst" "0" "02327" "GABRA1_000069" "g.161318012C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035070" "0" "50" "5" "161302589" "161302589" "subst" "4.06689E-6" "02327" "GABRA1_000070" "g.161302589C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GABRA1 ## Count = 78 "{{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}}" "0000119326" "00008266" "99" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "6" "0000119327" "00008266" "99" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "6" "0000119328" "00008266" "99" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "6" "0000119329" "00008266" "99" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Ser)" "9" "0000119330" "00008266" "77" "917" "0" "917" "0" "c.917A>C" "r.(?)" "p.(Lys306Thr)" "10" "0000119331" "00008266" "77" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "9" "0000119332" "00008266" "77" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "9" "0000119333" "00008266" "77" "788" "0" "788" "0" "c.788T>C" "r.(?)" "p.(Met263Thr)" "9" "0000119334" "00008266" "77" "789" "0" "789" "0" "c.789G>C" "r.(?)" "p.(Met263Ile)" "9" "0000119335" "00008266" "77" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Val287Leu)" "10" "0000119336" "00008266" "77" "824" "0" "824" "0" "c.824A>G" "r.(?)" "p.(Asn275Ser)" "9" "0000119337" "00008266" "77" "877" "0" "877" "0" "c.877A>C" "r.(?)" "p.(Met293Leu)" "10" "0000119338" "00008266" "77" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Thr292Ile)" "10" "0000119339" "00008266" "99" "975" "0" "975" "0" "c.975del" "r.(?)" "p.(Ser326Glnfs*3)" "10" "0000119340" "00008266" "77" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(Tyr438Cys)" "11" "0000119341" "00008266" "77" "1200" "0" "1200" "0" "c.1200del" "r.(?)" "p.(Lys401Serfs*25)" "11" "0000119342" "00008266" "99" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ala322Asp)" "10" "0000119343" "00008266" "99" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Asp219Asn)" "8" "0000119344" "00008266" "99" "1060" "-21" "1060" "-20" "c.1060-21_1060-20insTGTTTACTAAACAAAAAGAAAGAGC" "r.1059_1060ins1059+1_1060-1" "p.(Pro354Valfs*19)" "10i" "0000119345" "00008266" "33" "59" "0" "59" "0" "c.59C>T" "r.(?)" "p.(Thr20Ile)" "3" "0000188218" "00008266" "00" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Ala451Thr)" "" "0000188424" "00008266" "00" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "0000251344" "00008266" "30" "560" "-169" "560" "-169" "c.560-169del" "r.(=)" "p.(=)" "" "0000251345" "00008266" "10" "856" "67" "856" "67" "c.856+67A>G" "r.(=)" "p.(=)" "" "0000252097" "00008266" "30" "703" "72" "703" "72" "c.703+72A>T" "r.(=)" "p.(=)" "" "0000252597" "00008266" "90" "962" "0" "962" "0" "c.962A>G" "r.(?)" "p.(Tyr321Cys)" "" "0000280959" "00008266" "10" "1059" "15" "1059" "15" "c.1059+15G>A" "r.(=)" "p.(=)" "" "0000280960" "00008266" "30" "1155" "0" "1155" "0" "c.1155C>A" "r.(?)" "p.(Gly385=)" "" "0000280961" "00008266" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Pro167=)" "" "0000284503" "00008266" "30" "103" "0" "103" "0" "c.103C>A" "r.(?)" "p.(Leu35Ile)" "" "0000284504" "00008266" "70" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Asp90His)" "" "0000284505" "00008266" "70" "271" "0" "271" "0" "c.271G>T" "r.(?)" "p.(Val91Leu)" "" "0000284506" "00008266" "70" "439" "0" "439" "0" "c.439C>G" "r.(?)" "p.(Arg147Gly)" "" "0000284507" "00008266" "30" "476" "43" "476" "43" "c.476+43C>A" "r.(=)" "p.(=)" "" "0000284508" "00008266" "10" "560" "-140" "560" "-140" "c.560-140T>A" "r.(=)" "p.(=)" "" "0000284509" "00008266" "30" "75" "-112" "75" "-112" "c.75-112G>A" "r.(=)" "p.(=)" "" "0000284510" "00008266" "30" "75" "-86" "75" "-86" "c.75-86G>C" "r.(=)" "p.(=)" "" "0000284511" "00008266" "10" "857" "-10" "857" "-10" "c.857-10T>C" "r.(=)" "p.(=)" "" "0000284512" "00008266" "10" "857" "-9" "857" "-9" "c.857-9del" "r.(=)" "p.(=)" "" "0000284513" "00008266" "10" "857" "-56" "857" "-56" "c.857-56T>A" "r.(=)" "p.(=)" "" "0000284514" "00008266" "30" "857" "-6" "857" "-6" "c.857-6T>G" "r.(=)" "p.(=)" "" "0000284515" "00008266" "70" "911" "0" "911" "0" "c.911T>C" "r.(?)" "p.(Leu304Pro)" "" "0000341737" "00008266" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "" "0000348901" "00008266" "70" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Ser278Tyr)" "" "0000349246" "00008266" "50" "326" "0" "326" "0" "c.326C>T" "r.(?)" "p.(Thr109Ile)" "" "0000349416" "00008266" "50" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Thr288Ile)" "" "0000349782" "00008266" "50" "1030" "0" "1030" "0" "c.1030T>A" "r.(?)" "p.(Trp344Arg)" "" "0000525092" "00008266" "70" "126" "0" "126" "0" "c.126C>G" "r.(?)" "p.(Phe42Leu)" "" "0000525093" "00008266" "10" "187" "186" "187" "186" "c.187+186A>T" "r.(=)" "p.(=)" "" "0000525094" "00008266" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000525095" "00008266" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Pro167=)" "" "0000525096" "00008266" "30" "702" "0" "702" "0" "c.702A>G" "r.(?)" "p.(Thr234=)" "" "0000525097" "00008266" "10" "857" "-9" "857" "-9" "c.857-9del" "r.(=)" "p.(=)" "" "0000525098" "00008266" "30" "857" "-8" "857" "-8" "c.857-8C>T" "r.(=)" "p.(=)" "" "0000525099" "00008266" "30" "857" "-3" "857" "-3" "c.857-3C>T" "r.spl?" "p.?" "" "0000525100" "00008266" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Ala318=)" "" "0000525101" "00008266" "50" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Ala332Thr)" "" "0000525102" "00008266" "50" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" "" "0000525103" "00008266" "30" "1155" "0" "1155" "0" "c.1155C>A" "r.(?)" "p.(Gly385=)" "" "0000609617" "00008266" "50" "311" "0" "311" "0" "c.311T>G" "r.(?)" "p.(Phe104Cys)" "" "0000609618" "00008266" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "" "0000609619" "00008266" "50" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Pro)" "" "0000609620" "00008266" "50" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Gln231Arg)" "" "0000655345" "00008266" "70" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Tyr252His)" "" "0000802011" "00008266" "30" "846" "0" "846" "0" "c.846A>G" "r.(?)" "p.(Arg282=)" "" "0000802012" "00008266" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(Ala322=)" "" "0000886726" "00008266" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000886727" "00008266" "50" "1104" "0" "1104" "0" "c.1104C>G" "r.(?)" "p.(Tyr368*)" "" "0000935891" "00008266" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0000939841" "00008266" "70" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Glu403Gln)" "11" "0000976701" "00008266" "30" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Pro29Ser)" "" "0000994852" "00008266" "30" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(His243Tyr)" "" "0000994853" "00008266" "30" "1225" "0" "1225" "0" "c.1225C>T" "r.(?)" "p.(Pro409Ser)" "" "0001011880" "00008266" "90" "763" "0" "763" "0" "c.763A>T" "r.(?)" "p.(Ile255Phe)" "" "0001014104" "00008266" "30" "74" "16" "74" "16" "c.74+16del" "r.(=)" "p.(=)" "" "0001014105" "00008266" "30" "103" "0" "103" "0" "c.103C>A" "r.(?)" "p.(Leu35Ile)" "" "0001025062" "00008266" "50" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Ser271Cys)" "" "0001035070" "00008266" "50" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Pro167Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000074612" "0000119326" "0000074613" "0000119327" "0000074614" "0000119328" "0000074615" "0000119329" "0000074616" "0000119330" "0000074617" "0000119331" "0000074618" "0000119332" "0000074619" "0000119333" "0000074620" "0000119334" "0000074621" "0000119335" "0000074622" "0000119336" "0000074623" "0000119337" "0000074624" "0000119338" "0000074625" "0000119339" "0000074626" "0000119340" "0000074627" "0000119341" "0000074628" "0000119342" "0000074629" "0000119343" "0000074630" "0000119344" "0000074631" "0000119345" "0000117373" "0000188218" "0000117495" "0000188424" "0000439764" "0000935891" "0000441899" "0000939841" "0000457377" "0001011880"