### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRID2) # 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}}" "GRID2" "glutamate receptor, ionotropic, delta 2" "4" "q22" "unknown" "NC_000004.11" "UD_132609808809" "" "http://www.LOVD.nl/GRID2" "" "1" "4576" "2895" "602368" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-11-10 13:08:18" "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}}" "00008931" "GRID2" "glutamate receptor, ionotropic, delta 2" "001" "NM_001510.2" "" "NP_001501.2" "" "" "" "-258" "3024" "3024" "93225550" "94693649" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04494" "SCAR18" "ataxia, spinocerebellar, autosomal recessive, type 18 (SCAR-18)" "AR" "616204" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05101" "-" "adermatoglyphia, congenital facial milia, acral blisters, digital contractures, nail abnormalities (Basan syndrome)" "AD" "129200" "" "" "" "00006" "2015-11-10 10:55:30" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GRID2" "04494" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00054657" "" "" "" "1" "" "01457" "" "" "F" "no" "China" "" "0" "Pedigree" "No" "Chinese Han" "" "00467786" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam041PatBAB6883" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00054657" "05101" "00467786" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04494, 05101, 05611 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000041390" "05101" "00054657" "01457" "Unknown" "" "Basan Syndrome" "" "" "" "" "" "" "" "" "" "0000352939" "05611" "00467786" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SCAR18" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054606" "00054657" "1" "01457" "01457" "2015-11-07 12:16:06" "00006" "2016-01-27 06:03:53" "SEQ" "DNA" "Blood" "" "0000469452" "00467786" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000054606" "SMARCAD1" ## 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 = 31 "{{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}}" "0000084553" "21" "90" "4" "94253672" "94253672" "subst" "0" "01457" "GRID2_000001" "g.94253672G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.93332521G>T" "" "pathogenic" "" "0000281141" "0" "10" "4" "94316763" "94316763" "subst" "0.661366" "02325" "GRID2_000004" "g.94316763T>G" "" "" "" "GRID2(NM_001510.4):c.1251T>G (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93395612T>G" "" "benign" "" "0000281142" "0" "10" "4" "94032125" "94032125" "subst" "0.46764" "02325" "GRID2_000002" "g.94032125G>C" "" "" "" "GRID2(NM_001510.4):c.735+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93110974G>C" "" "benign" "" "0000288768" "0" "30" "4" "94159530" "94159530" "subst" "0.000114588" "01943" "GRID2_000003" "g.94159530T>C" "" "" "" "GRID2(NM_001510.3):c.1134T>C (p.V378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93238379T>C" "" "likely benign" "" "0000288769" "0" "50" "4" "94436461" "94436461" "subst" "0" "01943" "GRID2_000005" "g.94436461C>T" "" "" "" "GRID2(NM_001510.3):c.2092C>T (p.P698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93515310C>T" "" "VUS" "" "0000523563" "0" "30" "4" "94006333" "94006333" "subst" "8.12975E-5" "01943" "GRID2_000006" "g.94006333C>G" "" "" "" "GRID2(NM_001510.3):c.432C>G (p.L144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93085182C>G" "" "likely benign" "" "0000523564" "0" "50" "4" "94006432" "94006432" "subst" "0" "01804" "GRID2_000007" "g.94006432T>C" "" "" "" "GRID2(NM_001510.2):c.529+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93085281T>C" "" "VUS" "" "0000523565" "0" "10" "4" "94411809" "94411809" "subst" "0.00223158" "01943" "GRID2_000008" "g.94411809G>A" "" "" "" "GRID2(NM_001510.3):c.1878G>A (p.T626=), GRID2(NM_001510.4):c.1878G>A (p.T626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93490658G>A" "" "benign" "" "0000523567" "0" "10" "4" "94436475" "94436475" "subst" "0.00089909" "01943" "GRID2_000009" "g.94436475C>T" "" "" "" "GRID2(NM_001510.3):c.2106C>T (p.D702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93515324C>T" "" "benign" "" "0000523568" "0" "30" "4" "94690584" "94690584" "subst" "1.62942E-5" "01804" "GRID2_000010" "g.94690584C>T" "" "" "" "GRID2(NM_001510.2):c.2584C>T (p.(Arg862Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93769433C>T" "" "likely benign" "" "0000523569" "0" "50" "4" "94693546" "94693546" "subst" "0.00104765" "01943" "GRID2_000011" "g.94693546T>A" "" "" "" "GRID2(NM_001510.3):c.2921T>A (p.F974Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93772395T>A" "" "VUS" "" "0000609337" "0" "50" "4" "94032100" "94032100" "subst" "0" "01804" "GRID2_000012" "g.94032100C>T" "" "" "" "GRID2(NM_001510.2):c.731C>T (p.(Thr244Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93110949C>T" "" "VUS" "" "0000621434" "0" "50" "4" "94411877" "94411877" "subst" "8.15607E-5" "01943" "GRID2_000013" "g.94411877C>T" "" "" "" "GRID2(NM_001510.3):c.1946C>T (p.T649M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93490726C>T" "" "VUS" "" "0000655208" "0" "30" "4" "93225894" "93225894" "subst" "0.000508526" "01943" "GRID2_000014" "g.93225894C>T" "" "" "" "GRID2(NM_001510.3):c.87C>T (p.I29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.92304743C>T" "" "likely benign" "" "0000689358" "0" "30" "4" "94031922" "94031922" "subst" "8.13206E-6" "01943" "GRID2_000015" "g.94031922T>C" "" "" "" "GRID2(NM_001510.3):c.553T>C (p.L185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689359" "0" "30" "4" "94436567" "94436567" "subst" "0" "01943" "GRID2_000016" "g.94436567T>C" "" "" "" "GRID2(NM_001510.3):c.2193+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801760" "0" "50" "4" "94006263" "94006263" "subst" "2.03308E-5" "01943" "GRID2_000017" "g.94006263G>T" "" "" "" "GRID2(NM_001510.3):c.362G>T (p.R121L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850695" "0" "30" "4" "94031931" "94031931" "subst" "4.06633E-6" "01943" "GRID2_000018" "g.94031931G>A" "" "" "" "GRID2(NM_001510.3):c.562G>A (p.V188I), GRID2(NM_001510.4):c.562G>A (p.(Val188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859636" "0" "50" "4" "94128586" "94128586" "subst" "5.30223E-5" "01804" "GRID2_000019" "g.94128586G>A" "" "" "" "GRID2(NM_001286838.1):c.482G>A (p.(Cys161Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859637" "0" "50" "4" "94145790" "94145790" "subst" "3.26264E-5" "01943" "GRID2_000020" "g.94145790C>T" "" "" "" "GRID2(NM_001510.2):c.989C>T (p.(Thr330Met)), GRID2(NM_001510.3):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924179" "0" "30" "4" "94411809" "94411809" "subst" "0.00223158" "02326" "GRID2_000008" "g.94411809G>A" "" "" "" "GRID2(NM_001510.3):c.1878G>A (p.T626=), GRID2(NM_001510.4):c.1878G>A (p.T626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976424" "0" "50" "4" "94031931" "94031931" "subst" "4.06633E-6" "01804" "GRID2_000018" "g.94031931G>A" "" "" "" "GRID2(NM_001510.3):c.562G>A (p.V188I), GRID2(NM_001510.4):c.562G>A (p.(Val188Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976425" "0" "30" "4" "94145934" "94145934" "subst" "0" "01804" "GRID2_000021" "g.94145934C>G" "" "" "" "GRID2(NM_001510.4):c.1125+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976426" "0" "50" "4" "94377007" "94377007" "subst" "0" "01804" "GRID2_000022" "g.94377007G>A" "" "" "" "GRID2(NM_001510.4):c.1740G>A (p.(Val580=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976427" "0" "50" "4" "94690489" "94690489" "subst" "4.47158E-5" "01804" "GRID2_000023" "g.94690489G>C" "" "" "" "GRID2(NM_001510.4):c.2489G>C (p.(Ser830Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994500" "0" "30" "4" "94145790" "94145790" "subst" "3.26264E-5" "01804" "GRID2_000020" "g.94145790C>T" "" "" "" "GRID2(NM_001510.2):c.989C>T (p.(Thr330Met)), GRID2(NM_001510.3):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994501" "0" "50" "4" "94376872" "94376872" "subst" "4.07501E-6" "01804" "GRID2_000024" "g.94376872C>G" "" "" "" "GRID2(NM_001510.2):c.1605C>G (p.(Asp535Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994502" "0" "50" "4" "94436498" "94436498" "subst" "2.44033E-5" "01804" "GRID2_000025" "g.94436498G>A" "" "" "" "GRID2(NM_001510.2):c.2129G>A (p.(Arg710Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994503" "0" "50" "4" "94690482" "94690482" "subst" "0" "01804" "GRID2_000026" "g.94690482A>T" "" "" "" "GRID2(NM_001510.2):c.2482A>T (p.(Ile828Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049750" "3" "50" "4" "93978239" "94078203" "del" "0" "00006" "GRID2_000027" "g.93978239_94078203del" "" "{PMID:Charng 2016:27435318}" "" "hg19 chr4:g.93978239_94078203del" "" "Germline" "" "" "0" "" "" "g.93057088_93157052del" "" "VUS" "" "0001051780" "0" "30" "4" "94411781" "94411781" "subst" "0" "01804" "GRID2_000028" "g.94411781T>C" "" "" "" "GRID2(NM_001510.4):c.1859-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRID2 ## Count = 31 "{{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}}" "0000084553" "00008931" "00" "1246" "-63086" "1246" "-63086" "c.1246-63086G>T" "r.(=)" "p.(=)" "i" "0000281141" "00008931" "10" "1251" "0" "1251" "0" "c.1251T>G" "r.(?)" "p.(Gly417=)" "" "0000281142" "00008931" "10" "735" "21" "735" "21" "c.735+21G>C" "r.(=)" "p.(=)" "" "0000288768" "00008931" "30" "1134" "0" "1134" "0" "c.1134T>C" "r.(?)" "p.(Val378=)" "" "0000288769" "00008931" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Pro698Ser)" "" "0000523563" "00008931" "30" "432" "0" "432" "0" "c.432C>G" "r.(?)" "p.(Leu144=)" "" "0000523564" "00008931" "50" "529" "2" "529" "2" "c.529+2T>C" "r.spl?" "p.?" "" "0000523565" "00008931" "10" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Thr626=)" "" "0000523567" "00008931" "10" "2106" "0" "2106" "0" "c.2106C>T" "r.(?)" "p.(Asp702=)" "" "0000523568" "00008931" "30" "2584" "0" "2584" "0" "c.2584C>T" "r.(?)" "p.(Arg862Trp)" "" "0000523569" "00008931" "50" "2921" "0" "2921" "0" "c.2921T>A" "r.(?)" "p.(Phe974Tyr)" "" "0000609337" "00008931" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0000621434" "00008931" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Thr649Met)" "" "0000655208" "00008931" "30" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Ile29=)" "" "0000689358" "00008931" "30" "553" "0" "553" "0" "c.553T>C" "r.(?)" "p.(Leu185=)" "" "0000689359" "00008931" "30" "2193" "5" "2193" "5" "c.2193+5T>C" "r.spl?" "p.?" "" "0000801760" "00008931" "50" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Arg121Leu)" "" "0000850695" "00008931" "30" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000859636" "00008931" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Cys256Tyr)" "" "0000859637" "00008931" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000924179" "00008931" "30" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Thr626=)" "" "0000976424" "00008931" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Ile)" "" "0000976425" "00008931" "30" "1125" "8" "1125" "8" "c.1125+8C>G" "r.(=)" "p.(=)" "" "0000976426" "00008931" "50" "1740" "0" "1740" "0" "c.1740G>A" "r.(?)" "p.(=)" "" "0000976427" "00008931" "50" "2489" "0" "2489" "0" "c.2489G>C" "r.(?)" "p.(Ser830Thr)" "" "0000994500" "00008931" "30" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000994501" "00008931" "50" "1605" "0" "1605" "0" "c.1605C>G" "r.(?)" "p.(Asp535Glu)" "" "0000994502" "00008931" "50" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710Gln)" "" "0000994503" "00008931" "50" "2482" "0" "2482" "0" "c.2482A>T" "r.(?)" "p.(Ile828Leu)" "" "0001049750" "00008931" "50" "245" "-27907" "735" "46099" "c.245-27907_735+46099del" "r.(?)" "p.?" "" "0001051780" "00008931" "30" "1859" "-9" "1859" "-9" "c.1859-9T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000054606" "0000084553" "0000469452" "0001049750"