### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRIA1) # 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}}" "GRIA1" "glutamate receptor, ionotropic, AMPA 1" "5" "q33" "unknown" "NG_047078.1" "UD_132612552947" "" "https://www.LOVD.nl/GRIA1" "" "1" "4571" "2890" "138248" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GRIA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-06-30 19:43:12" "00000" "2025-11-01 13:22:20" ## 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}}" "00001321" "GRIA1" "transcript variant 1" "001" "NM_000827.3" "" "NP_000818.2" "" "" "" "-365" "5365" "2721" "152870084" "153193429" "00000" "2012-09-13 13:26:28" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06941" "MRD67" "intellectual developmental disorder, autosomal dominant, type 67" "AD" "619927" "" "" "" "00006" "2022-06-30 19:41:11" "" "" "06942" "MRT76" "intellectual developmental disorder, autosomal recessive, type 76" "AR" "619931" "" "" "" "00006" "2022-06-30 19:42:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GRIA1" "05533" "GRIA1" "06941" "GRIA1" "06942" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00183043" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}, {PMID:Ismail 2022:35675825}" "" "F" "" "Netherlands" "" "0" "" "" "" "Trio02;Pat2" "00266192" "" "" "" "1" "" "00006" "{PMID:Yan 2019:31587869}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "China" "" "0" "" "" "" "Pat4" "00412888" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00412889" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00412890" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "F" "" "" "" "0" "" "" "" "Pat4" "00412891" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00412892" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "F" "" "" "" "0" "" "" "" "Pat6" "00412893" "" "" "" "1" "" "00006" "{PMID:Ismail 2022:35675825}" "" "" "" "" "" "0" "" "" "" "Pat7" "00466206" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "334573" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00183043" "00139" "00266192" "00198" "00412888" "05611" "00412889" "05611" "00412890" "05611" "00412891" "05611" "00412892" "05611" "00412893" "05611" "00466206" "06941" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 05533, 05611, 06941, 06942 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000143796" "00139" "00183043" "00006" "Isolated (sporadic)" "09y06m" "see paper; …, severe Intellectual disability; no speech; 12m-sit; 12m-walk; unspecified behavioral problems; MRI brain normal; mild upslanting palpebral fissures; OFC 50cm, weight 26kg, height 118cm" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000203969" "00198" "00266192" "00006" "Familial, autosomal dominant" "4y" "1d-nystagmus, resolved 14m; 36m-walk, delayed language development, myopia; bilateral Babinski sign, unclear pronunciation; abnormal brain-stem auditory evoked potential and visual evoked potential" "" "" "" "" "" "" "" "" "" "Pelizaeus-Merzbacher (like) disease" "" "0000304874" "05611" "00412888" "00006" "Familial, autosomal recessive" "9y6m" "severe Intellectual disability; no speech; 14m-walk; epilepsy; EEG frequent interictal epileptiform discharges with spikes/spike over posterior regions; tip-toe walking; self-injurious behavior; MRI brain normal; poor sleep requiring melatonin; left intermittent divergent squint; no dysmorphic features; >6y-precocious puberty; OFC 49cm, weight 31 kg, height 140.5cm" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304875" "05611" "00412889" "00006" "Isolated (sporadic)" "4y" "severe Intellectual disability; no speech; 5m-sit, 18m-walk; no epilepsy; attention deficit hyperactivity disorder, autism spectrum disorder; MRI brain normal; poor sleep requiring melatonin; possible squint, no vision anomalies diagnosed; broad forehead, telecanthus; OFC 53cm; weight 21kg, height 107.3cm" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304876" "05611" "00412890" "00006" "Isolated (sporadic)" "26y" "moderate Intellectual disability; speech language difficult to understand; 17m-walk; no epilepsy; attention deficit hyperactivity disorder; MRI brain normal; normal sleep; hypermetropia, astigmatism, 11m-glasses; no dysmorphic features" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304877" "05611" "00412891" "00006" "Isolated (sporadic)" "26y" "Intellectual disability; no epilepsy; unspecified behavioral problems; MRI brain normal; normal sleep; flushed cheeks/ears, high arched palate; bicuspid aortic valve;weight 60kg, height 149cm" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304878" "05611" "00412892" "00006" "Isolated (sporadic)" "21y" "moderate Intellectual disability; speech simple verbal language; 13m-walk, delayed fine motor skills, coordination issues; no epilepsy; EEG normal; dystonia, catatonia; anxiety, anger tantrums, autism spectrum disorder; MRI brain normal; poor sleep; normal vision; no dysmorphic features; hypothyroidism polycystic ovarian syndrome; wieght 54kg, height 157.5cm" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000304879" "05611" "00412893" "00006" "Isolated (sporadic)" "19y6m" "intellectual disability; no epilepsy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000351589" "06941" "00466206" "01164" "Unknown" "15y" "Intellectual disability, mild, Attention deficit hyperactivity disorder" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000184003" "00183043" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267313" "00266192" "1" "00006" "00006" "2019-10-16 03:56:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000414159" "00412888" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414160" "00412889" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414161" "00412890" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414162" "00412891" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414163" "00412892" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000414164" "00412893" "1" "00006" "00006" "2022-07-06 11:59:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467863" "00466206" "1" "01164" "01164" "2025-08-07 16:11:06" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000267313" "TMEM63A" "0000467863" "GRIA1" ## 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 = 30 "{{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}}" "0000004235" "3" "50" "5" "153010231" "153010231" "subst" "0" "00037" "GRIA1_000003" "g.153010231G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153630671G>T" "" "VUS" "" "0000004236" "3" "50" "5" "153144216" "153144216" "subst" "0.631152" "00037" "GRIA1_000001" "g.153144216A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153764656A>G" "" "VUS" "" "0000012222" "0" "50" "5" "153144216" "153144216" "subst" "0.631152" "00037" "GRIA1_000001" "g.153144216A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153764656A>G" "" "VUS" "" "0000330709" "0" "50" "5" "152871812" "152871812" "subst" "2.43053E-5" "01804" "GRIA1_000004" "g.152871812G>T" "" "" "" "GRIA1(NM_001258021.1):c.54G>T (p.(Glu18Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153492252G>T" "" "VUS" "" "0000407941" "0" "70" "5" "153144076" "153144076" "subst" "0" "00006" "GRIA1_000005" "g.153144076G>A" "" "{PMID:de Ligt 2012:23033978}, {PMID:Ismail 2022:35675825}" "" "NM_001114183.1:c.1906G>A (Ala636Thr)" "candidate variant" "De novo" "" "" "0" "" "" "g.153764516G>A" "" "pathogenic (dominant)" "" "0000598372" "0" "70" "5" "153144076" "153144076" "subst" "0" "00006" "GRIA1_000005" "g.153144076G>A" "" "{PMID:Yan 2019:31587869}" "" "NM_001258022.1:c.1936G>A" "variant may contribute to phenotype (intellectual disability)" "De novo" "" "" "0" "" "" "g.153764516G>A" "" "VUS" "" "0000720313" "0" "30" "5" "153029897" "153029897" "subst" "4.08047E-5" "01943" "GRIA1_000008" "g.153029897C>T" "" "" "" "GRIA1(NM_001364166.1):c.495C>T (p.S165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871748" "3" "90" "5" "153065884" "153065884" "subst" "0" "00006" "GRIA1_000010" "g.153065884C>T" "" "{PMID:Ismail 2022:35675825}" "" "" "" "Germline" "" "" "0" "" "" "g.153686324C>T" "" "pathogenic (recessive)" "" "0000871749" "0" "90" "5" "153144076" "153144076" "subst" "0" "00006" "GRIA1_000005" "g.153144076G>A" "" "{PMID:Ismail 2022:35675825}" "" "" "" "De novo" "" "" "0" "" "" "g.153764516G>A" "" "pathogenic (dominant)" "" "0000871750" "0" "90" "5" "153144076" "153144076" "subst" "0" "00006" "GRIA1_000005" "g.153144076G>A" "" "{PMID:Ismail 2022:35675825}" "" "" "" "De novo" "" "" "0" "" "" "g.153764516G>A" "" "pathogenic (dominant)" "" "0000871751" "0" "90" "5" "153144050" "153144050" "subst" "0" "00006" "GRIA1_000011" "g.153144050T>C" "" "{PMID:Ismail 2022:35675825}" "" "" "" "De novo" "" "" "0" "" "" "g.153764490T>C" "" "pathogenic (dominant)" "" "0000871752" "0" "90" "5" "153149939" "153149939" "subst" "0" "00006" "GRIA1_000012" "g.153149939G>A" "" "{PMID:Ismail 2022:35675825}" "" "" "" "De novo" "" "" "0" "" "" "g.153770379G>A" "" "pathogenic (dominant)" "" "0000871753" "0" "50" "5" "153065789" "153065789" "subst" "4.06941E-6" "00006" "GRIA1_000009" "g.153065789G>A" "" "{PMID:Ismail 2022:35675825}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.153686229G>A" "VCV000983361.1" "VUS" "" "0000976676" "0" "70" "5" "152870475" "152870475" "subst" "0" "01804" "GRIA1_000013" "g.152870475C>A" "" "" "" "GRIA1(NM_000827.4):c.27C>A (p.(Cys9Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976677" "0" "30" "5" "152871804" "152871804" "subst" "0.00272312" "01804" "GRIA1_000014" "g.152871804G>A" "" "" "" "GRIA1(NM_001258021.2):c.46G>A (p.(Gly16Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976678" "0" "50" "5" "153054180" "153054180" "subst" "4.07183E-6" "01804" "GRIA1_000015" "g.153054180G>C" "" "" "" "GRIA1(NM_000827.4):c.820G>C (p.(Asp274His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976679" "0" "50" "5" "153065849" "153065849" "subst" "1.6282E-5" "01804" "GRIA1_000016" "g.153065849C>T" "" "" "" "GRIA1(NM_000827.4):c.1094C>T (p.(Thr365Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976680" "0" "30" "5" "153065878" "153065878" "subst" "0.000273015" "01804" "GRIA1_000017" "g.153065878G>A" "" "" "" "GRIA1(NM_000827.4):c.1123G>A (p.(Gly375Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976681" "0" "50" "5" "153144158" "153144158" "subst" "1.62606E-5" "01804" "GRIA1_000018" "g.153144158C>T" "" "" "" "GRIA1(NM_000827.4):c.1988C>T (p.(Thr663Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994825" "0" "50" "5" "152873519" "152873519" "subst" "0" "01804" "GRIA1_000019" "g.152873519A>C" "" "" "" "GRIA1(NM_001258022.1):c.144A>C (p.(Glu48Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994826" "0" "30" "5" "153056678" "153056678" "subst" "3.54635E-5" "01804" "GRIA1_000020" "g.153056678T>C" "" "" "" "GRIA1(NM_001258022.1):c.1016T>C (p.(Val339Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994827" "0" "30" "5" "153065789" "153065789" "subst" "8.13882E-6" "01804" "GRIA1_000021" "g.153065789G>T" "" "" "" "GRIA1(NM_000827.3):c.1034G>T (p.(Arg345Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994828" "0" "30" "5" "153077689" "153077689" "subst" "4.06904E-6" "01804" "GRIA1_000022" "g.153077689G>A" "" "" "" "GRIA1(NM_001258022.1):c.1250G>A (p.(Arg417Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994829" "0" "50" "5" "153085403" "153085403" "subst" "0" "01804" "GRIA1_000023" "g.153085403T>A" "" "" "" "GRIA1(NM_000827.3):c.1599T>A (p.(Asp533Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994830" "0" "50" "5" "153190712" "153190712" "subst" "8.12236E-6" "01804" "GRIA1_000024" "g.153190712T>G" "" "" "" "GRIA1(NM_001258022.1):c.2678T>G (p.(Phe893Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035049" "0" "30" "5" "152871837" "152871837" "subst" "0.000307902" "01804" "GRIA1_000025" "g.152871837T>C" "" "" "" "GRIA1(NM_001258021.2):c.79T>C (p.(Phe27Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035050" "0" "30" "5" "153078837" "153078837" "subst" "0" "01804" "GRIA1_000026" "g.153078837A>T" "" "" "" "GRIA1(NM_000827.4):c.1452+204A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047251" "0" "50" "5" "153085549" "153085549" "subst" "0" "01164" "GRIA1_000027" "g.153085549C>G" "" "" "" "" "ACMG: PS2-moderate,PM2-supporting,PP2-supporting,BP4-supporting; confirmed de novo" "De novo" "-" "" "" "" "" "g.153705989C>G" "" "VUS" "ACMG" "0001052174" "0" "50" "5" "153030010" "153030010" "subst" "4.06855E-6" "01804" "GRIA1_000028" "g.153030010A>G" "" "" "" "GRIA1(NM_000827.4):c.581A>G (p.(Lys194Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052175" "0" "50" "5" "153030051" "153030051" "subst" "0.000126279" "01804" "GRIA1_000029" "g.153030051C>T" "" "" "" "GRIA1(NM_000827.4):c.622C>T (p.(Arg208Cys))" "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 GRIA1 ## Count = 30 "{{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}}" "0000004235" "00001321" "50" "221" "-16257" "221" "-16257" "c.221-16257G>T" "r.(=)" "p.(=)" "" "0000004236" "00001321" "50" "2022" "24" "2022" "24" "c.2022+24A>G" "r.(=)" "p.(=)" "" "0000012222" "00001321" "50" "2022" "24" "2022" "24" "c.2022+24A>G" "r.(=)" "p.(=)" "" "0000330709" "00001321" "50" "82" "1282" "82" "1282" "c.82+1282G>T" "r.(=)" "p.(=)" "" "0000407941" "00001321" "90" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000598372" "00001321" "70" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000720313" "00001321" "30" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ser156=)" "" "0000871748" "00001321" "90" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Arg377Ter)" "" "0000871749" "00001321" "90" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000871750" "00001321" "90" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000871751" "00001321" "90" "1880" "0" "1880" "0" "c.1880T>C" "r.(?)" "p.(Ile627Thr)" "" "0000871752" "00001321" "90" "2234" "0" "2234" "0" "c.2234G>A" "r.(?)" "p.(Gly745Asp)" "" "0000871753" "00001321" "50" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "" "0000976676" "00001321" "70" "27" "0" "27" "0" "c.27C>A" "r.(?)" "p.(Cys9*)" "" "0000976677" "00001321" "30" "82" "1274" "82" "1274" "c.82+1274G>A" "r.(=)" "p.(=)" "" "0000976678" "00001321" "50" "820" "0" "820" "0" "c.820G>C" "r.(?)" "p.(Asp274His)" "" "0000976679" "00001321" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Thr365Met)" "" "0000976680" "00001321" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "0000976681" "00001321" "50" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Met)" "" "0000994825" "00001321" "50" "114" "0" "114" "0" "c.114A>C" "r.(?)" "p.(Glu38Asp)" "" "0000994826" "00001321" "30" "986" "0" "986" "0" "c.986T>C" "r.(?)" "p.(Val329Ala)" "" "0000994827" "00001321" "30" "1034" "0" "1034" "0" "c.1034G>T" "r.(?)" "p.(Arg345Leu)" "" "0000994828" "00001321" "30" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Arg407Lys)" "" "0000994829" "00001321" "50" "1599" "0" "1599" "0" "c.1599T>A" "r.(?)" "p.(Asp533Glu)" "" "0000994830" "00001321" "50" "2648" "0" "2648" "0" "c.2648T>G" "r.(?)" "p.(Phe883Cys)" "" "0001035049" "00001321" "30" "82" "1307" "82" "1307" "c.82+1307T>C" "r.(=)" "p.(=)" "" "0001035050" "00001321" "30" "1452" "204" "1452" "204" "c.1452+204A>T" "r.(=)" "p.(=)" "" "0001047251" "00001321" "50" "1745" "0" "1745" "0" "c.1745C>G" "r.(?)" "p.(Ser582Cys)" "11" "0001052174" "00001321" "50" "581" "0" "581" "0" "c.581A>G" "r.(?)" "p.(Lys194Arg)" "" "0001052175" "00001321" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004235" "0000000209" "0000004236" "0000000210" "0000012222" "0000184003" "0000407941" "0000267313" "0000598372" "0000414159" "0000871748" "0000414160" "0000871749" "0000414161" "0000871750" "0000414162" "0000871751" "0000414163" "0000871752" "0000414164" "0000871753" "0000467863" "0001047251"