### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GRIA3)
# 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}}"
"GRIA3" "glutamate receptor, ionotropic, AMPA 3" "X" "q25" "unknown" "NG_009377.2" "UD_132118337602" "" "https://www.LOVD.nl/GRIA3" "" "1" "4573" "2892" "305915" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/GRIA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-10-23 16:19:09" "00006" "2025-03-06 19:14:06"
## 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}}"
"00025331" "GRIA3" "transcript variant 1" "003" "NM_007325.4" "" "NP_015564.4" "" "" "" "-292" "4890" "2685" "122318096" "122624766" "00006" "2018-10-23 16:18:37" "" ""
## 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"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00822" "MRX1" "mental retardation, X-linked, type 1" "XLD" "309530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-11-25 16:08:47"
"00823" "MRXSCJ" "mental retardation, X-linked, syndromic, Claes-Jensen type" "XLR" "300534" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00835" "MRX94" "mental retardation, X-linked, type 94 (MRX94)" "XLR" "300699" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 17:03:07"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"GRIA3" "00139"
"GRIA3" "00835"
## Individuals ## Do not remove or alter this header ##
## Count = 20
"{{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" "" "" "" ""
"00146558" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" ""
"00173286" "" "" "" "110" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173574" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00183102" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamN21"
"00183103" "" "" "" "4" "" "00006" "{PMID:Hu 2016:25644381}" "family, 4 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamP176"
"00183343" "" "" "" "2" "" "00006" "{PMID:Davies 2017:29016847}" "2-generation family, 2 affected brothers, unaffected heterozygous carriermother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "29016847-Fam"
"00183344" "" "" "" "3" "" "00006" "{PMID:Wu 2007:17989220}" "3-generation family, 3 affected males, 3 unaffected heterozygous carrier females" "M" "no" "" "" "0" "" "" "" "17989220-FamA"
"00183345" "" "" "" "2" "" "00006" "{PMID:Wu 2007:17989220}" "4-generation family, 2 affected males, 7 unaffected heterozygous carrier females" "M" "no" "" "" "0" "" "" "" "17989220-FamB"
"00183346" "" "" "" "4" "" "00006" "{PMID:Wu 2007:17989220}" "3-generation family, 4 affected males, 2 unaffected heterozygous carrier females" "M" "no" "" "" "0" "" "" "" "17989220-FamC"
"00183347" "" "" "" "1" "" "00006" "{PMID:Wu 2007:17989220}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "" "" "0" "" "" "" "17989220-FamD"
"00183348" "" "" "" "1" "" "00006" "{PMID:Wu 2007:17989220}" "" "M" "no" "" "" "0" "" "" "" "17989220-Pat"
"00183349" "" "" "" "3" "" "00006" "{PMID:Philips 2014:24721225}" "4-generation family, 3 affected males, 2 unaffected heterozygous carrier females" "M" "no" "Finland" "" "0" "" "" "" "FamD174"
"00307795" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411367"
"00391863" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "031P"
"00392039" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "202P"
"00408319" "" "" "" "1" "" "01238" "Leonardi 2022, submitted" "diagnosed by Movement Disorders Unit, Dept. of Neuroscience, University of Padua, Padua, Italy" "F" "no" "(Italy)" "" "0" "" "" "" "PD-4009"
"00419451" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "207229"
"00464358" "" "" "" "1" "" "04459" "" "" "" "" "" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 23
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00146558" "00198"
"00173286" "00187"
"00173574" "00187"
"00183102" "00187"
"00183103" "00187"
"00183343" "00198"
"00183344" "00187"
"00183345" "00187"
"00183346" "00187"
"00183347" "00187"
"00183348" "00187"
"00183349" "00187"
"00307795" "00139"
"00391863" "00139"
"00391863" "00822"
"00391863" "00835"
"00392039" "00139"
"00392039" "00835"
"00408319" "00823"
"00419451" "00835"
"00464358" "00835"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00822, 00823, 00835, 01157
## Count = 15
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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" "" "" "" "" "" "" "" "" ""
"0000119299" "00198" "00146558" "01807" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000138150" "00187" "00173286" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138438" "00187" "00173574" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000143856" "00187" "00183102" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" ""
"0000143857" "00187" "00183103" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" ""
"0000144080" "00198" "00183343" "00006" "Familial, X-linked recessive" "" "see paper; ..., intellectual disability, severe developmental delay, dramatically disturbed sleep-wake cycle (wake/sleep durations up to 106-h awak/48-h asleep)" "" "" "" "" "" "" "" "" "" "" "developmental delay" ""
"0000144081" "00187" "00183344" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRX-94" "intellectual disability" ""
"0000144082" "00187" "00183345" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRX-94" "intellectual disability" ""
"0000144083" "00187" "00183346" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRX-94" "intellectual disability" ""
"0000144084" "00187" "00183347" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRX-94" "intellectual disability" ""
"0000144085" "00187" "00183349" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe ID with autistic\r\nfeatures, epilepsy, short stature, behavioral problems incl. self injury and aggressive outbursts" "" "" "" "" "" "" "" "" "" "MRX-94" "intellectual disability" ""
"0000300445" "00823" "00408319" "01238" "Unknown" "48y" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000310737" "00835" "00419451" "01164" "Unknown" "04y" "Global developmental delay, Motor delay, Delayed speech and language development, Cognitive impairment (half brother also affected, not tested yet)" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 20
"{{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" "" ""
"0000147413" "00146558" "0" "01807" "01807" "2017-12-29 11:38:58" "" "" "SEQ" "DNA" "" ""
"0000174169" "00173286" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174457" "00173574" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000184060" "00183102" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome"
"0000184061" "00183103" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome"
"0000184304" "00183343" "1" "00006" "00006" "2018-10-23 16:25:25" "" "" "SEQ-NG" "DNA" "" "WES"
"0000184305" "00183344" "1" "00006" "00006" "2018-10-23 16:34:36" "" "" "SEQ" "DNA" "" ""
"0000184306" "00183345" "1" "00006" "00006" "2018-10-23 16:38:22" "" "" "SEQ" "DNA" "" ""
"0000184307" "00183346" "1" "00006" "00006" "2018-10-23 16:41:22" "" "" "SEQ" "DNA" "" ""
"0000184308" "00183347" "1" "00006" "00006" "2018-10-23 16:44:02" "" "" "SEQ" "DNA" "" ""
"0000184309" "00183348" "1" "00006" "00006" "2018-10-23 16:47:32" "" "" "arrayCGH" "DNA" "" ""
"0000184310" "00183349" "1" "00006" "00006" "2018-10-23 16:55:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-Xchr"
"0000308935" "00307795" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel"
"0000393105" "00391863" "1" "02494" "02494" "2021-11-19 12:32:50" "" "" "SEQ-NG" "DNA" "" "WES"
"0000393281" "00392039" "1" "02494" "02494" "2021-11-19 17:28:34" "" "" "SEQ-NG" "DNA" "" "WES"
"0000409576" "00408319" "1" "01238" "01238" "2022-04-20 11:30:12" "" "" "SEQ-NG-IT" "DNA" "" "Gene panel"
"0000420754" "00419451" "1" "01164" "01164" "2022-10-20 10:34:02" "" "" "SEQ-NG-I" "DNA" "" ""
"0000465988" "00464358" "1" "04459" "04459" "2025-03-06 08:16:06" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}" "{{geneid}}"
"0000174169" "IRAK1"
"0000174457" "ZFX"
"0000184060" "GRIA3"
"0000184061" "GRIA3"
"0000184304" "GRIA3"
"0000184305" "GRIA3"
"0000184306" "GRIA3"
"0000184307" "GRIA3"
"0000184308" "GRIA3"
"0000184309" "GRIA3"
"0000184310" "GRIA3"
"0000308935" "GRIA3"
"0000409576" "GRIA3"
"0000409576" "KDM5C"
"0000420754" "GRIA3"
"0000465988" "GRIA3"
## 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 = 104
"{{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}}"
"0000002136" "20" "50" "X" "122318386" "122318387" "ins" "0.999994" "00037" "GRIA3_000065" "g.122318386_122318387insGG" "" "" "" "-2_-1insG" "" "Germline" "" "" "0" "" "" "g.123184534dup" "" "VUS" ""
"0000002137" "20" "50" "X" "122336603" "122336603" "dup" "0" "00037" "GRIA3_000022" "g.122336603dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123202751dup" "" "VUS" ""
"0000002138" "20" "50" "X" "122460233" "122460237" "del" "0" "00037" "GRIA3_000007" "g.122460233_122460237del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123326382_123326386del" "" "VUS" ""
"0000002139" "0" "50" "X" "122616977" "122616977" "dup" "0" "00037" "GRIA3_000004" "g.122616977dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123483126dup" "" "VUS" ""
"0000003213" "20" "50" "X" "122336603" "122336603" "dup" "0" "00037" "GRIA3_000032" "g.122336603dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123202751dup" "" "VUS" ""
"0000003214" "20" "50" "X" "122460220" "122460220" "del" "0" "00037" "GRIA3_000030" "g.122460220del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123326369del" "" "VUS" ""
"0000007584" "20" "50" "X" "122338205" "122338205" "subst" "0.203272" "00037" "GRIA3_000024" "g.122338205T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123204353C>A" "" "VUS" ""
"0000007585" "20" "50" "X" "122459633" "122459633" "subst" "0" "00037" "GRIA3_000027" "g.122459633A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123325782A>C" "" "VUS" ""
"0000007586" "20" "50" "X" "122528803" "122528803" "subst" "0.587026" "00037" "GRIA3_000009" "g.122528803T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123394952T>C" "" "VUS" ""
"0000007587" "20" "50" "X" "122537277" "122537277" "subst" "0.588005" "00037" "GRIA3_000012" "g.122537277T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123403426T>C" "" "VUS" ""
"0000007588" "20" "50" "X" "122537418" "122537418" "subst" "0.592535" "00037" "GRIA3_000015" "g.122537418C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123403567C>T" "" "VUS" ""
"0000007589" "20" "50" "X" "122562148" "122562148" "subst" "0" "00037" "GRIA3_000001" "g.122562148C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123428297C>T" "" "VUS" ""
"0000009711" "20" "50" "X" "122318386" "122318387" "ins" "0.999994" "00037" "GRIA3_000065" "g.122318386_122318387insGG" "" "" "" "-2_-1insG" "" "Germline" "" "" "0" "" "" "g.123184534dup" "" "VUS" ""
"0000009712" "20" "50" "X" "122336603" "122336603" "dup" "0" "00037" "GRIA3_000022" "g.122336603dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123202751dup" "" "VUS" ""
"0000009713" "20" "50" "X" "122338205" "122338205" "subst" "0.203272" "00037" "GRIA3_000024" "g.122338205T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123204353C>A" "" "VUS" ""
"0000009714" "20" "50" "X" "122459633" "122459633" "subst" "0" "00037" "GRIA3_000027" "g.122459633A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123325782A>C" "" "VUS" ""
"0000009715" "0" "50" "X" "122460233" "122460237" "del" "0" "00037" "GRIA3_000007" "g.122460233_122460237del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123326382_123326386del" "" "VUS" ""
"0000009716" "0" "50" "X" "122460230" "122460237" "del" "0" "00037" "GRIA3_000006" "g.122460230_122460237del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123326379_123326386del" "" "VUS" ""
"0000009717" "20" "50" "X" "122528803" "122528803" "subst" "0.587026" "00037" "GRIA3_000009" "g.122528803T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123394952T>C" "" "VUS" ""
"0000009718" "20" "50" "X" "122537277" "122537277" "subst" "0.588005" "00037" "GRIA3_000012" "g.122537277T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123403426T>C" "" "VUS" ""
"0000009719" "20" "50" "X" "122537418" "122537418" "subst" "0.592535" "00037" "GRIA3_000015" "g.122537418C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123403567C>T" "" "VUS" ""
"0000009720" "20" "50" "X" "122562148" "122562148" "subst" "0" "00037" "GRIA3_000001" "g.122562148C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123428297C>T" "" "VUS" ""
"0000009721" "20" "50" "X" "122622967" "122622968" "dup" "0" "00037" "GRIA3_000005" "g.122622967_122622968dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123489116_123489117dup" "" "VUS" ""
"0000011191" "20" "50" "X" "122336603" "122336603" "dup" "0" "00037" "GRIA3_000032" "g.122336603dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123202751dup" "" "VUS" ""
"0000011192" "0" "50" "X" "122460220" "122460220" "del" "0" "00037" "GRIA3_000030" "g.122460220del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.123326369del" "" "VUS" ""
"0000240210" "3" "70" "X" "122551424" "122551424" "del" "0" "01807" "GRIA3_000033" "g.122551424del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.123417573del" "" "likely pathogenic" ""
"0000251659" "0" "10" "X" "122598647" "122598647" "del" "0" "02326" "GRIA3_000053" "g.122598647del" "" "" "" "GRIA3(NM_000828.4):c.2077-69delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123464796del" "" "benign" ""
"0000252350" "0" "30" "X" "122532472" "122532472" "subst" "0.000392422" "02326" "GRIA3_000046" "g.122532472A>G" "" "" "" "GRIA3(NM_000828.4):c.913-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123398621A>G" "" "likely benign" ""
"0000281135" "0" "10" "X" "122537277" "122537277" "subst" "0.588005" "02325" "GRIA3_000012" "g.122537277T>C" "" "" "" "GRIA3(NM_000828.4):c.1200T>C (p.N400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123403426T>C" "" "benign" ""
"0000281137" "0" "10" "X" "122336603" "122336603" "dup" "0" "02325" "GRIA3_000022" "g.122336603dup" "" "" "" "GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123202751dup" "" "benign" ""
"0000281139" "0" "30" "X" "122460069" "122460069" "subst" "5.05053E-5" "02325" "GRIA3_000045" "g.122460069G>A" "" "" "" "GRIA3(NM_000828.4):c.696+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123326218G>A" "" "likely benign" ""
"0000281140" "0" "10" "X" "122528803" "122528803" "subst" "0.587026" "02325" "GRIA3_000009" "g.122528803T>C" "" "" "" "GRIA3(NM_000828.4):c.751-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123394952T>C" "" "benign" ""
"0000284975" "0" "10" "X" "122536807" "122536807" "subst" "0.00012373" "02326" "GRIA3_000047" "g.122536807G>A" "" "" "" "GRIA3(NM_000828.4):c.1081-38G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123402956G>A" "" "benign" ""
"0000284976" "0" "70" "X" "122538614" "122538614" "subst" "3.36315E-5" "02326" "GRIA3_000050" "g.122538614G>A" "" "" "" "GRIA3(NM_000828.4):c.1349G>A (p.R450Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123404763G>A" "" "likely pathogenic" ""
"0000284977" "0" "10" "X" "122551248" "122551248" "subst" "0" "02326" "GRIA3_000052" "g.122551248T>C" "" "" "" "GRIA3(NM_000828.4):c.1501-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123417397T>C" "" "benign" ""
"0000284978" "0" "30" "X" "122551245" "122551245" "subst" "0" "02326" "GRIA3_000051" "g.122551245T>A" "" "" "" "GRIA3(NM_000828.4):c.1500-8T>A (p.(=)), GRIA3(NM_000828.4):c.1501-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123417394T>A" "" "likely benign" ""
"0000284980" "0" "30" "X" "122459994" "122459994" "subst" "0" "02326" "GRIA3_000043" "g.122459994T>C" "" "" "" "GRIA3(NM_000828.4):c.626T>C (p.M209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123326143T>C" "" "likely benign" ""
"0000288762" "0" "10" "X" "122536945" "122536945" "subst" "0.00149102" "01943" "GRIA3_000049" "g.122536945G>A" "" "" "" "GRIA3(NM_000828.4):c.1181G>A (p.R394Q), GRIA3(NM_007325.4):c.1181G>A (p.W394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123403094G>A" "" "benign" ""
"0000288763" "0" "30" "X" "122319733" "122319733" "subst" "0.000884505" "01943" "GRIA3_000038" "g.122319733T>C" "" "" "" "GRIA3(NM_000828.4):c.159T>C (p.F53=), GRIA3(NM_001256743.2):c.158T>C (p.F53S), GRIA3(NM_007325.5):c.158T>C (p.F53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123185881T>C" "" "likely benign" ""
"0000288765" "0" "50" "X" "122460015" "122460015" "subst" "3.91797E-5" "01943" "GRIA3_000044" "g.122460015G>A" "" "" "" "GRIA3(NM_000828.4):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123326164G>A" "" "VUS" ""
"0000335381" "0" "50" "X" "122319753" "122319753" "subst" "1.11985E-5" "01804" "GRIA3_000039" "g.122319753C>T" "" "" "" "GRIA3(NM_000828.4):c.179C>T (p.(Thr60Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123185901C>T" "" "VUS" ""
"0000335382" "0" "50" "X" "122338247" "122338247" "subst" "0.00353299" "01804" "GRIA3_000041" "g.122338247C>A" "" "" "" "GRIA3(NM_000828.4):c.268+18405C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123204395T>A" "" "VUS" ""
"0000335384" "0" "30" "X" "122551245" "122551245" "subst" "0" "01804" "GRIA3_000051" "g.122551245T>A" "" "" "" "GRIA3(NM_000828.4):c.1500-8T>A (p.(=)), GRIA3(NM_000828.4):c.1501-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123417394T>A" "" "likely benign" ""
"0000345255" "0" "90" "X" "122460038" "122460038" "subst" "0" "02327" "GRIA3_000055" "g.122460038G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123326187G>T" "" "pathogenic" ""
"0000346815" "0" "30" "X" "122616741" "122616741" "subst" "2.23948E-5" "02327" "GRIA3_000057" "g.122616741T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123482890T>C" "" "likely benign" ""
"0000347552" "0" "30" "X" "122536930" "122536930" "subst" "0.000812229" "02327" "GRIA3_000048" "g.122536930A>C" "" "" "" "GRIA3(NM_000828.4):c.1166A>C (p.K389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123403079A>C" "" "likely benign" ""
"0000348436" "0" "50" "X" "122537297" "122537297" "subst" "0" "02327" "GRIA3_000056" "g.122537297C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123403446C>T" "" "VUS" ""
"0000349581" "0" "30" "X" "122319753" "122319753" "subst" "1.11985E-5" "02327" "GRIA3_000039" "g.122319753C>T" "" "" "" "GRIA3(NM_000828.4):c.179C>T (p.(Thr60Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123185901C>T" "" "likely benign" ""
"0000401089" "1" "30" "X" "122537277" "122537277" "subst" "0.588005" "00124" "GRIA3_000012" "g.122537277T>C" "110/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N400N" "recurrent, found 110 times" "Germline" "" "" "0" "" "" "g.123403426T>C" "" "likely benign" ""
"0000401090" "1" "50" "X" "122598756" "122598756" "subst" "0" "00124" "GRIA3_000058" "g.122598756T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "M706T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.123464905T>C" "" "VUS" ""
"0000408029" "21" "90" "X" "122460038" "122460038" "subst" "0" "00006" "GRIA3_000055" "g.122460038G>T" "" "{PMID:Hu 2016:25644381}" "" "GRIA3 E224X" "" "Germline" "yes" "" "0" "" "" "g.123326187G>T" "" "pathogenic (recessive)" ""
"0000408030" "21" "90" "X" "122598800" "122598800" "subst" "0" "00006" "GRIA3_000059" "g.122598800G>A" "" "{PMID:Hu 2016:25644381}" "" "GRIA3 G721R" "" "Germline" "yes" "" "0" "" "" "g.123464949G>A" "" "pathogenic (recessive)" ""
"0000408324" "21" "90" "X" "122561871" "122561871" "subst" "0" "00006" "GRIA3_000060" "g.122561871G>A" "" "{PMID:Davies 2017:29016847}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123428020G>A" "" "pathogenic (recessive)" ""
"0000408325" "21" "90" "X" "122616707" "122616707" "subst" "0" "00006" "GRIA3_000061" "g.122616707G>A" "" "{PMID:Wu 2007:17989220}" "" "G833R" "" "Germline" "yes" "" "0" "" "" "g.123482856G>A" "" "pathogenic (recessive)" ""
"0000408326" "21" "90" "X" "122598756" "122598756" "subst" "0" "00006" "GRIA3_000058" "g.122598756T>C" "" "{PMID:Wu 2007:17989220}" "" "M706T" "" "Germline" "yes" "" "0" "" "" "g.123464905T>C" "" "pathogenic (recessive)" ""
"0000408327" "21" "90" "X" "122561805" "122561805" "subst" "0" "00006" "GRIA3_000062" "g.122561805C>A" "" "{PMID:Wu 2007:17989220}" "" "R631S" "" "Germline" "yes" "" "0" "" "" "g.123427954C>A" "" "pathogenic (recessive)" ""
"0000408328" "21" "90" "X" "122538614" "122538614" "subst" "3.36315E-5" "00006" "GRIA3_000050" "g.122538614G>A" "" "{PMID:Wu 2007:17989220}" "" "R450Q" "" "Germline" "yes" "" "0" "" "" "g.123404763G>A" "" "pathogenic (recessive)" ""
"0000408329" "0" "90" "X" "122100000" "122460000" "del" "0" "00006" "GRIA3_000063" "g.(122000000_122100000)_(122460000_122560000)del" "" "{PMID:Wu 2007:17989220}" "" "" "0.4 Mb deletion Xq25 (122.00–122.40 Mb)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000408330" "21" "90" "X" "122561802" "122561802" "subst" "0" "00006" "GRIA3_000064" "g.122561802G>C" "" "{PMID:Philips 2014:24721225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123427951G>C" "" "pathogenic (recessive)" ""
"0000573328" "0" "10" "X" "122318386" "122318387" "ins" "0.999994" "02325" "GRIA3_000020" "g.122318386_122318387insG" "" "" "" "GRIA3(NM_000828.4):c.-2_-1insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123184533dup" "" "benign" ""
"0000573329" "0" "10" "X" "122318386" "122318386" "dup" "0" "02326" "GRIA3_000065" "g.122318386dup" "" "" "" "GRIA3(NM_000828.4):c.-2dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123184533dup" "" "benign" ""
"0000573330" "0" "10" "X" "122318387" "122318388" "ins" "0" "02326" "GRIA3_000067" "g.122318387_122318388insG" "" "" "" "GRIA3(NM_000828.4):c.-1_1insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123184535_123184536insG" "" "benign" ""
"0000573331" "0" "10" "X" "122318387" "122318387" "dup" "0" "02326" "GRIA3_000066" "g.122318387dup" "" "" "" "GRIA3(NM_000828.4):c.-1dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123184535dup" "" "benign" ""
"0000573334" "0" "30" "X" "122336603" "122336603" "dup" "0" "01943" "GRIA3_000022" "g.122336603dup" "" "" "" "GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123202751dup" "" "likely benign" ""
"0000573335" "0" "10" "X" "122336603" "122336603" "dup" "0" "02326" "GRIA3_000022" "g.122336603dup" "" "" "" "GRIA3(NM_000828.4):c.268+16761dupG, GRIA3(NM_001256743.1):c.380dupG, GRIA3(NM_001256743.2):c.380dupG (p.G128Wfs*16), GRIA3(NM_001256743.2):c.384del..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123202751dup" "" "benign" ""
"0000573336" "0" "10" "X" "122336604" "122336605" "ins" "0" "02325" "GRIA3_000068" "g.122336604_122336605insG" "" "" "" "GRIA3(NM_001256743.2):c.385dupG (p.A129Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123202752_123202753insG" "" "benign" ""
"0000573337" "0" "10" "X" "122536945" "122536945" "subst" "0.00149102" "02326" "GRIA3_000049" "g.122536945G>A" "" "" "" "GRIA3(NM_000828.4):c.1181G>A (p.R394Q), GRIA3(NM_007325.4):c.1181G>A (p.W394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123403094G>A" "" "benign" ""
"0000573338" "0" "50" "X" "122537313" "122537313" "subst" "0" "01943" "GRIA3_000069" "g.122537313A>C" "" "" "" "GRIA3(NM_000828.4):c.1236A>C (p.Q412H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123403462A>C" "" "VUS" ""
"0000573339" "0" "70" "X" "122538640" "122538640" "subst" "0" "01804" "GRIA3_000070" "g.122538640G>C" "" "" "" "GRIA3(NM_000828.4):c.1375G>C (p.(Ala459Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123404789G>C" "" "likely pathogenic" ""
"0000573340" "0" "50" "X" "122551533" "122551533" "subst" "0" "02327" "GRIA3_000071" "g.122551533A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123417682A>G" "" "VUS" ""
"0000573341" "0" "30" "X" "122562010" "122562010" "subst" "5.68069E-6" "02325" "GRIA3_000072" "g.122562010T>C" "" "" "" "GRIA3(NM_000828.4):c.2076+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123428159T>C" "" "likely benign" ""
"0000618963" "0" "70" "X" "122561802" "122561802" "subst" "0" "02327" "GRIA3_000078" "g.122561802G>A" "" "" "" "GRIA3(NM_000828.4):c.1888G>A (p.G630R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123427951G>A" "" "likely pathogenic" ""
"0000618964" "0" "70" "X" "122561806" "122561806" "subst" "0" "02327" "GRIA3_000079" "g.122561806G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123427955G>A" "" "likely pathogenic" ""
"0000624401" "0" "50" "X" "122387164" "122387164" "subst" "5.59804E-6" "01943" "GRIA3_000075" "g.122387164G>T" "" "" "" "GRIA3(NM_000828.4):c.279G>T (p.Q93H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123253313G>T" "" "VUS" ""
"0000624403" "0" "50" "X" "122459984" "122459984" "subst" "1.1195E-5" "02325" "GRIA3_000077" "g.122459984A>G" "" "" "" "GRIA3(NM_000828.4):c.616A>G (p.I206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123326133A>G" "" "VUS" ""
"0000659066" "0" "90" "X" "122532556" "122532556" "subst" "0" "02327" "GRIA3_000080" "g.122532556C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123398705C>T" "" "pathogenic" ""
"0000682062" "0" "30" "X" "122538591" "122538591" "subst" "0.000106552" "01943" "GRIA3_000081" "g.122538591T>C" "" "" "" "GRIA3(NM_000828.4):c.1326T>C (p.H442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000683369" "0" "70" "X" "122616707" "122616707" "subst" "0" "00006" "GRIA3_000061" "g.122616707G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs137852350" "0" "" "" "g.123482856G>A" "" "likely pathogenic" ""
"0000693315" "0" "30" "X" "122536958" "122536958" "subst" "0.000100946" "02326" "GRIA3_000082" "g.122536958C>A" "" "" "" "GRIA3(NM_000828.4):c.1185+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693316" "0" "50" "X" "122561802" "122561802" "subst" "0" "01943" "GRIA3_000078" "g.122561802G>A" "" "" "" "GRIA3(NM_000828.4):c.1888G>A (p.G630R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728376" "0" "50" "X" "122319733" "122319733" "subst" "0.000884505" "02329" "GRIA3_000038" "g.122319733T>C" "" "" "" "GRIA3(NM_000828.4):c.159T>C (p.F53=), GRIA3(NM_001256743.2):c.158T>C (p.F53S), GRIA3(NM_007325.5):c.158T>C (p.F53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728377" "0" "30" "X" "122537314" "122537314" "subst" "1.12103E-5" "01943" "GRIA3_000083" "g.122537314A>G" "" "" "" "GRIA3(NM_000828.4):c.1237A>G (p.I413V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809836" "0" "30" "X" "122459979" "122459979" "subst" "2.23943E-5" "01943" "GRIA3_000084" "g.122459979G>A" "" "" "" "GRIA3(NM_000828.4):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809837" "0" "30" "X" "122536889" "122536889" "subst" "0.000369512" "01943" "GRIA3_000085" "g.122536889T>C" "" "" "" "GRIA3(NM_000828.4):c.1125T>C (p.Y375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809838" "0" "30" "X" "122536930" "122536930" "subst" "0.000812229" "01943" "GRIA3_000048" "g.122536930A>C" "" "" "" "GRIA3(NM_000828.4):c.1166A>C (p.K389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000823715" "21" "50" "X" "122616848" "122616848" "subst" "0" "02494" "GRIA3_000087" "g.122616848T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000824011" "0" "50" "X" "122551353" "122551353" "subst" "0" "02494" "GRIA3_000086" "g.122551353T>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" ""
"0000846760" "0" "50" "X" "122459941" "122459941" "subst" "0" "01238" "GRIA3_000088" "g.122459941G>T" "" "Leonardi 2022, submitted" "" "" "" "Germline" "-" "" "0" "" "" "" "" "VUS" "ACMG"
"0000856315" "0" "30" "X" "122387282" "122387282" "subst" "0.000330325" "01943" "GRIA3_000042" "g.122387282G>A" "" "" "" "GRIA3(NM_000828.4):c.397G>A (p.A133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856316" "0" "70" "X" "122537267" "122537267" "subst" "0" "02327" "GRIA3_000090" "g.122537267G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000867009" "0" "30" "X" "122318389" "122318389" "subst" "2.23824E-5" "01943" "GRIA3_000089" "g.122318389T>C" "" "" "" "GRIA3(NM_000828.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000881114" "0" "50" "X" "122551361" "122551361" "subst" "0" "01164" "GRIA3_000091" "g.122551361C>G" "" "" "" "" "ACMG: PP2, PM2_SUP" "Germline" "?" "" "" "" "" "" "VCV000807809.12" "VUS" "ACMG"
"0000927249" "0" "50" "X" "122318389" "122318389" "subst" "2.23824E-5" "02326" "GRIA3_000089" "g.122318389T>C" "" "" "" "GRIA3(NM_000828.4):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000951671" "0" "50" "X" "122528853" "122528853" "subst" "0" "02325" "GRIA3_000092" "g.122528853A>G" "" "" "" "GRIA3(NM_000828.4):c.785A>G (p.H262R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000970689" "0" "50" "X" "122319733" "122319733" "subst" "0.000884505" "02326" "GRIA3_000038" "g.122319733T>C" "" "" "" "GRIA3(NM_000828.4):c.159T>C (p.F53=), GRIA3(NM_001256743.2):c.158T>C (p.F53S), GRIA3(NM_007325.5):c.158T>C (p.F53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000970694" "0" "50" "X" "122387304" "122387304" "subst" "1.67997E-5" "02325" "GRIA3_000093" "g.122387304A>G" "" "" "" "GRIA3(NM_000828.4):c.419A>G (p.Q140R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000970695" "0" "50" "X" "122459948" "122459948" "subst" "5.03877E-5" "02325" "GRIA3_000094" "g.122459948G>A" "" "" "" "GRIA3(NM_000828.4):c.580G>A (p.G194R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000970698" "0" "10" "X" "122622963" "122622968" "dup" "0" "02329" "GRIA3_000095" "g.122622963_122622968dup" "" "" "" "GRIA3(NM_000828.4):c.*397_*402dupACACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000970699" "0" "10" "X" "122622965" "122622968" "dup" "0" "02329" "GRIA3_000096" "g.122622965_122622968dup" "" "" "" "GRIA3(NM_000828.4):c.*401_*404dupACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000984425" "0" "50" "X" "122387298" "122387298" "subst" "0" "01804" "GRIA3_000098" "g.122387298T>C" "" "" "" "GRIA3(NM_007325.5):c.413T>C (p.(Val138Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000984426" "0" "50" "X" "122528821" "122528821" "subst" "0" "01804" "GRIA3_000099" "g.122528821T>C" "" "" "" "GRIA3(NM_007325.5):c.753T>C (p.(Gly251Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006392" "0" "50" "X" "122532566" "122532566" "subst" "0" "01804" "GRIA3_000100" "g.122532566T>C" "" "" "" "GRIA3(NM_007325.4):c.992T>C (p.(Val331Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006393" "0" "30" "X" "122536930" "122536930" "subst" "0.000812229" "02325" "GRIA3_000048" "g.122536930A>C" "" "" "" "GRIA3(NM_000828.4):c.1166A>C (p.K389T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001029799" "21" "50" "X" "122561892" "122561892" "subst" "0" "04459" "GRIA3_000101" "g.122561892A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.123428041A>G" "" "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 GRIA3
## Count = 104
"{{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}}"
"0000002136" "00025331" "50" "-2" "0" "-2" "0" "c.-2dup" "r.(?)" "p.(=)" ""
"0000002137" "00025331" "50" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000002138" "00025331" "50" "696" "169" "696" "173" "c.696+169_696+173del" "r.(=)" "p.(=)" ""
"0000002139" "00025331" "50" "2687" "80" "2687" "80" "c.*2+80dup" "r.(=)" "p.(=)" ""
"0000003213" "00025331" "50" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000003214" "00025331" "50" "696" "156" "696" "156" "c.696+156del" "r.(=)" "p.(=)" ""
"0000007584" "00025331" "50" "268" "18363" "268" "18363" "c.268+18363T>A" "r.(=)" "p.(=)" ""
"0000007585" "00025331" "50" "509" "-244" "509" "-244" "c.509-244A>C" "r.(=)" "p.(=)" ""
"0000007586" "00025331" "50" "751" "-16" "751" "-16" "c.751-16T>C" "r.(=)" "p.(=)" ""
"0000007587" "00025331" "50" "1200" "0" "1200" "0" "c.1200T>C" "r.(=)" "p.(=)" ""
"0000007588" "00025331" "50" "1293" "48" "1293" "48" "c.1293+48C>T" "r.(=)" "p.(=)" ""
"0000007589" "00025331" "50" "2076" "158" "2076" "158" "c.2076+158C>T" "r.(=)" "p.(=)" ""
"0000009711" "00025331" "50" "-2" "0" "-2" "0" "c.-2dup" "r.(?)" "p.(=)" ""
"0000009712" "00025331" "50" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000009713" "00025331" "50" "268" "18363" "268" "18363" "c.268+18363T>A" "r.(=)" "p.(=)" ""
"0000009714" "00025331" "50" "509" "-244" "509" "-244" "c.509-244A>C" "r.(=)" "p.(=)" ""
"0000009715" "00025331" "50" "696" "169" "696" "173" "c.696+169_696+173del" "r.(=)" "p.(=)" ""
"0000009716" "00025331" "50" "696" "166" "696" "173" "c.696+166_696+173del" "r.(=)" "p.(=)" ""
"0000009717" "00025331" "50" "751" "-16" "751" "-16" "c.751-16T>C" "r.(=)" "p.(=)" ""
"0000009718" "00025331" "50" "1200" "0" "1200" "0" "c.1200T>C" "r.(=)" "p.(=)" ""
"0000009719" "00025331" "50" "1293" "48" "1293" "48" "c.1293+48C>T" "r.(=)" "p.(=)" ""
"0000009720" "00025331" "50" "2076" "158" "2076" "158" "c.2076+158C>T" "r.(=)" "p.(=)" ""
"0000009721" "00025331" "50" "3091" "0" "3092" "0" "c.*406_*407dup" "r.(=)" "p.(=)" ""
"0000011191" "00025331" "50" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000011192" "00025331" "50" "696" "156" "696" "156" "c.696+156del" "r.(=)" "p.(=)" ""
"0000240210" "00025331" "70" "1672" "0" "1672" "0" "c.1672del" "r.(?)" "p.(Cys558Alafs*11)" ""
"0000251659" "00025331" "10" "2077" "-69" "2077" "-69" "c.2077-69del" "r.(=)" "p.(=)" ""
"0000252350" "00025331" "30" "913" "-15" "913" "-15" "c.913-15A>G" "r.(=)" "p.(=)" ""
"0000281135" "00025331" "10" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(Asn400=)" ""
"0000281137" "00025331" "10" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000281139" "00025331" "30" "696" "5" "696" "5" "c.696+5G>A" "r.spl?" "p.?" ""
"0000281140" "00025331" "10" "751" "-16" "751" "-16" "c.751-16T>C" "r.(=)" "p.(=)" ""
"0000284975" "00025331" "10" "1081" "-38" "1081" "-38" "c.1081-38G>A" "r.(=)" "p.(=)" ""
"0000284976" "00025331" "70" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450Gln)" ""
"0000284977" "00025331" "10" "1501" "-5" "1501" "-5" "c.1501-5T>C" "r.spl?" "p.?" ""
"0000284978" "00025331" "30" "1501" "-8" "1501" "-8" "c.1501-8T>A" "r.(=)" "p.(=)" ""
"0000284980" "00025331" "30" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Met209Thr)" ""
"0000288762" "00025331" "10" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" ""
"0000288763" "00025331" "30" "159" "0" "159" "0" "c.159T>C" "r.(?)" "p.(Phe53=)" ""
"0000288765" "00025331" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" ""
"0000335381" "00025331" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Ile)" ""
"0000335382" "00025331" "50" "268" "18405" "268" "18405" "c.268+18405C>A" "r.(=)" "p.(=)" ""
"0000335384" "00025331" "30" "1501" "-8" "1501" "-8" "c.1501-8T>A" "r.(=)" "p.(=)" ""
"0000345255" "00025331" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224Ter)" ""
"0000346815" "00025331" "30" "2531" "0" "2531" "0" "c.2531T>C" "r.(?)" "p.(Ile844Thr)" ""
"0000347552" "00025331" "30" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Lys389Thr)" ""
"0000348436" "00025331" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Pro407Leu)" ""
"0000349581" "00025331" "30" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Ile)" ""
"0000401089" "00025331" "30" "1200" "0" "1200" "0" "c.1200T>C" "r.(?)" "p.(=)" ""
"0000401090" "00025331" "50" "2117" "0" "2117" "0" "c.2117T>C" "r.(?)" "p.(Met706Thr)" "14"
"0000408029" "00025331" "90" "670" "0" "670" "0" "c.670G>T" "r.(?)" "p.(Glu224*)" ""
"0000408030" "00025331" "90" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Gly721Arg)" ""
"0000408324" "00025331" "90" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Ala653Thr)" ""
"0000408325" "00025331" "90" "2497" "0" "2497" "0" "c.2497G>A" "r.(?)" "p.(Gly833Arg)" ""
"0000408326" "00025331" "90" "2117" "0" "2117" "0" "c.2117T>C" "r.(?)" "p.(Met706Thr)" ""
"0000408327" "00025331" "90" "1891" "0" "1891" "0" "c.1891C>A" "r.(?)" "p.(Arg631Ser)" ""
"0000408328" "00025331" "90" "1349" "0" "1349" "0" "c.1349G>A" "r.(?)" "p.(Arg450Gln)" ""
"0000408329" "00025331" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" ""
"0000408330" "00025331" "90" "1888" "0" "1888" "0" "c.1888G>C" "r.(?)" "p.(Gly630Arg)" "12"
"0000573328" "00025331" "10" "-3" "0" "-1" "0" "c.-3_-1=" "r.(=)" "p.(=)" ""
"0000573329" "00025331" "10" "-2" "0" "-2" "0" "c.-2dup" "r.(?)" "p.(=)" ""
"0000573330" "00025331" "10" "-2" "0" "-1" "0" "c.-2_-1delinsCG" "r.(?)" "p.(=)" ""
"0000573331" "00025331" "10" "-2" "0" "-2" "0" "c.-2G>C" "r.(?)" "p.(=)" ""
"0000573334" "00025331" "30" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000573335" "00025331" "10" "268" "16761" "268" "16761" "c.268+16761dup" "r.(=)" "p.(=)" ""
"0000573336" "00025331" "10" "268" "16762" "268" "16763" "c.268+16762_268+16763insG" "r.(=)" "p.(=)" ""
"0000573337" "00025331" "10" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394Gln)" ""
"0000573338" "00025331" "50" "1236" "0" "1236" "0" "c.1236A>C" "r.(?)" "p.(Gln412His)" ""
"0000573339" "00025331" "70" "1375" "0" "1375" "0" "c.1375G>C" "r.(?)" "p.(Ala459Pro)" ""
"0000573340" "00025331" "50" "1781" "0" "1781" "0" "c.1781A>G" "r.(?)" "p.(Gln594Arg)" ""
"0000573341" "00025331" "30" "2076" "20" "2076" "20" "c.2076+20T>C" "r.(=)" "p.(=)" ""
"0000618963" "00025331" "70" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Gly630Arg)" ""
"0000618964" "00025331" "70" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631His)" ""
"0000624401" "00025331" "50" "279" "0" "279" "0" "c.279G>T" "r.(?)" "p.(Gln93His)" ""
"0000624403" "00025331" "50" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Ile206Val)" ""
"0000659066" "00025331" "90" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Ter)" ""
"0000682062" "00025331" "30" "1326" "0" "1326" "0" "c.1326T>C" "r.(?)" "p.(His442=)" ""
"0000683369" "00025331" "70" "2497" "0" "2497" "0" "c.2497G>A" "r.(?)" "p.(Gly833Arg)" ""
"0000693315" "00025331" "30" "1185" "9" "1185" "9" "c.1185+9C>A" "r.(=)" "p.(=)" ""
"0000693316" "00025331" "50" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Gly630Arg)" ""
"0000728376" "00025331" "50" "159" "0" "159" "0" "c.159T>C" "r.(?)" "p.(Phe53=)" ""
"0000728377" "00025331" "30" "1237" "0" "1237" "0" "c.1237A>G" "r.(?)" "p.(Ile413Val)" ""
"0000809836" "00025331" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" ""
"0000809837" "00025331" "30" "1125" "0" "1125" "0" "c.1125T>C" "r.(?)" "p.(Tyr375=)" ""
"0000809838" "00025331" "30" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Lys389Thr)" ""
"0000823715" "00025331" "50" "2638" "0" "2638" "0" "c.2638T>A" "r.(?)" "p.(Tyr880Asn)" ""
"0000824011" "00025331" "50" "1601" "0" "1601" "0" "c.1601T>A" "r.(?)" "p.(Ile534Lys)" ""
"0000846760" "00025331" "50" "573" "0" "573" "0" "c.573G>T" "r.(?)" "p.(Arg191Ser)" ""
"0000856315" "00025331" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" ""
"0000856316" "00025331" "70" "1190" "0" "1190" "0" "c.1190G>A" "r.(?)" "p.(Gly397Asp)" ""
"0000867009" "00025331" "30" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000881114" "00025331" "50" "1609" "0" "1609" "0" "c.1609C>G" "r.(?)" "p.(Pro537Ala)" ""
"0000927249" "00025331" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000951671" "00025331" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(His262Arg)" ""
"0000970689" "00025331" "50" "159" "0" "159" "0" "c.159T>C" "r.(?)" "p.(Phe53=)" ""
"0000970694" "00025331" "50" "419" "0" "419" "0" "c.419A>G" "r.(?)" "p.(Gln140Arg)" ""
"0000970695" "00025331" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Gly194Arg)" ""
"0000970698" "00025331" "10" "3087" "0" "3092" "0" "c.*402_*407dup" "r.(=)" "p.(=)" ""
"0000970699" "00025331" "10" "3089" "0" "3092" "0" "c.*404_*407dup" "r.(=)" "p.(=)" ""
"0000984425" "00025331" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Val138Ala)" ""
"0000984426" "00025331" "50" "753" "0" "753" "0" "c.753T>C" "r.(?)" "p.(=)" ""
"0001006392" "00025331" "50" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Val331Ala)" ""
"0001006393" "00025331" "30" "1166" "0" "1166" "0" "c.1166A>C" "r.(?)" "p.(Lys389Thr)" ""
"0001029799" "00025331" "50" "1978" "0" "1978" "0" "c.1978A>G" "r.(?)" "p.(Arg660Gly)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 43
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002136"
"0000000209" "0000002137"
"0000000209" "0000002138"
"0000000209" "0000002139"
"0000000209" "0000003213"
"0000000209" "0000003214"
"0000000209" "0000007584"
"0000000209" "0000007585"
"0000000209" "0000007586"
"0000000209" "0000007587"
"0000000209" "0000007588"
"0000000209" "0000007589"
"0000000210" "0000009711"
"0000000210" "0000009712"
"0000000210" "0000009713"
"0000000210" "0000009714"
"0000000210" "0000009715"
"0000000210" "0000009716"
"0000000210" "0000009717"
"0000000210" "0000009718"
"0000000210" "0000009719"
"0000000210" "0000009720"
"0000000210" "0000009721"
"0000000210" "0000011191"
"0000000210" "0000011192"
"0000147413" "0000240210"
"0000174169" "0000401089"
"0000174457" "0000401090"
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