### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = G3BP2) # 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}}" "G3BP2" "GTPase activating protein (SH3 domain) binding protein 2" "4" "q21.1" "unknown" "NC_000004.11" "UD_132464485074" "" "https://www.LOVD.nl/G3BP2" "" "1" "30291" "9908" "620020" "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/G3BP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-01 16:30:10" "00000" "2026-01-20 18:57:21" ## 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}}" "00026038" "G3BP2" "transcript variant 1" "007" "NM_203505.2" "" "NP_987101.1" "" "" "" "-300" "4110" "1449" "76598667" "76567953" "00006" "2025-12-01 16:24:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "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}}" "G3BP2" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00327463" "" "" "" "2" "" "03980" "Doucette 2021, Submitted" "Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern." "F" "" "Canada" "" "" "Yes" "" "Middle eastern origin" "M69 II-1" "00470348" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "118517" "00470349" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD4K.01415" "00470350" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "49254" "00470351" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Iossifov 2014:25363768}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "12523.p1" "00470352" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "113530" "00470353" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD4K.03714" "00470354" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "2-1261-003" "00470355" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Satterstrom 2020:31981491}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "MAC961" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00327463" "04250" "00470348" "05611" "00470349" "05611" "00470350" "05611" "00470351" "05611" "00470352" "05611" "00470353" "05611" "00470354" "05611" "00470355" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04250, 05611 ## Count = 9 "{{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}}" "0000245752" "05412" "00327463" "03980" "Familial, autosomal recessive" "29y" "Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)" "" "" "" "" "" "" "" "" "Retinopathy" "0000355497" "05611" "00470348" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355498" "05611" "00470349" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355499" "05611" "00470350" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355500" "05611" "00470351" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "autism spectrum disorder" "0000355501" "05611" "00470352" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355502" "05611" "00470353" "00006" "Unknown" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000355503" "05611" "00470354" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "autism spectrum disorder" "0000355504" "05611" "00470355" "00006" "Unknown" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "autism spectrum disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000328676" "00327463" "1" "03980" "03980" "2021-01-21 22:19:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000472015" "00470348" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472016" "00470349" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472017" "00470350" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472018" "00470351" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472019" "00470352" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472020" "00470353" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472021" "00470354" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000472022" "00470355" "1" "00006" "00006" "2025-12-01 19:41:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 11 "{{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}}" "0000712656" "3" "50" "4" "76572300" "76572300" "subst" "0.000836834" "03980" "G3BP2_000001" "g.76572300T>C" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs200985641" "0" "" "" "g.75647116T>C" "" "VUS" "" "0000850658" "0" "30" "4" "76570629" "76570629" "subst" "0.00193925" "01943" "G3BP2_000002" "g.76570629T>C" "" "" "" "G3BP2(NM_203505.2):c.1434A>G (p.T478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75645445T>C" "" "likely benign" "" "0001034671" "0" "50" "4" "76581046" "76581046" "subst" "2.03315E-5" "01804" "G3BP2_000003" "g.76581046C>T" "" "" "" "G3BP2(NM_203505.3):c.451G>A (p.(Asp151Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75655862C>T" "" "VUS" "" "0001060415" "0" "70" "4" "76570751" "76570751" "subst" "0" "00006" "G3BP2_000004" "g.76570751G>A" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "C1312T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75645567G>A" "" "likely pathogenic (dominant)" "" "0001060416" "0" "70" "4" "76570841" "76570841" "subst" "0" "00006" "G3BP2_000005" "g.76570841T>C" "" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "" "A1222G" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75645657T>C" "" "likely pathogenic (dominant)" "" "0001060417" "0" "70" "4" "76570866" "76570866" "subst" "0" "00006" "G3BP2_000006" "g.76570866T>G" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "A1197C" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75645682T>G" "" "likely pathogenic (dominant)" "" "0001060418" "0" "70" "4" "76580350" "76580350" "subst" "0" "00006" "G3BP2_000007" "g.76580350A>G" "" "{PMID:Jia 2022:35977029}, {PMID:Iossifov 2014:25363768}" "" "T626C" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75655166A>G" "" "likely pathogenic (dominant)" "" "0001060419" "0" "70" "4" "76581025" "76581025" "subst" "0" "00006" "G3BP2_000008" "g.76581025C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "G472A" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75655841C>T" "" "likely pathogenic (dominant)" "" "0001060420" "0" "70" "4" "76581046" "76581046" "subst" "2.03315E-5" "00006" "G3BP2_000003" "g.76581046C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "" "G451A" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75655862C>T" "" "likely pathogenic (dominant)" "" "0001060421" "0" "70" "4" "76582916" "76582916" "subst" "0" "00006" "G3BP2_000009" "g.76582916T>G" "" "{PMID:Jia 2022:35977029}, {PMID:Satterstrom 2020:31981491}" "" "" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75657732T>G" "" "likely pathogenic (dominant)" "" "0001060422" "0" "70" "4" "76587173" "76587173" "subst" "0" "00006" "G3BP2_000010" "g.76587173G>A" "" "{PMID:Jia 2022:35977029}, {PMID:Satterstrom 2020:31981491}" "" "C37T" "candidate disease-associated gene" "De novo" "" "" "0" "" "" "g.75661989G>A" "" "likely pathogenic (dominant)" "" ## 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 G3BP2 ## Count = 11 "{{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}}" "0000712656" "00026038" "50" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Ile324Val)" "" "0000850658" "00026038" "30" "1434" "0" "1434" "0" "c.1434A>G" "r.(?)" "p.(Thr478=)" "" "0001034671" "00026038" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "" "0001060415" "00026038" "70" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Arg438Cys)" "12" "0001060416" "00026038" "70" "1222" "0" "1222" "0" "c.1222A>G" "r.(?)" "p.(Lys408Glu)" "12" "0001060417" "00026038" "70" "1197" "0" "1197" "0" "c.1197A>C" "r.(?)" "p.(Glu399Asp)" "12" "0001060418" "00026038" "70" "626" "0" "626" "0" "c.626T>C" "r.(?)" "p.(Leu209Pro)" "7" "0001060419" "00026038" "70" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Glu158Lys)" "6" "0001060420" "00026038" "70" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "6" "0001060421" "00026038" "70" "178" "-2" "178" "-2" "c.178-2A>C" "r.spl" "p.?" "3i" "0001060422" "00026038" "70" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Trp)" "2" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000328676" "0000712656" "0000472015" "0001060415" "0000472016" "0001060416" "0000472017" "0001060417" "0000472018" "0001060418" "0000472019" "0001060419" "0000472020" "0001060420" "0000472021" "0001060421" "0000472022" "0001060422"