### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAC3) # 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}}" "RAC3" "ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)" "17" "q25.3" "unknown" "NC_000017.10" "UD_132612565066" "" "https://www.LOVD.nl/RAC3" "" "1" "9803" "5881" "602050" "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/RAC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-29 14:44:28" "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}}" "00017352" "RAC3" "ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)" "001" "NM_005052.2" "" "NP_005043.1" "" "" "" "-106" "954" "579" "79989532" "79992080" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06382" "NEDBAF" "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" "AD" "618577" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RAC3" "06382" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00311853" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "" "F" "no" "" "" "0" "" "" "" "BAB8740" "00400075" "" "" "" "1" "" "03565" "" "" "F" "" "" "" "" "" "" "" "" "00434845" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC05" "00447862" "" "" "" "1" "" "00006" "{PMID:Costain 2019:30293988}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Canada" "" "0" "" "" "Europe;white" "FamIPat1" "00447863" "" "" "" "1" "" "00006" "{PMID:Costain 2019:30293988}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Belgium" "" "0" "" "" "Europe;white" "FamIIPat1" "00447864" "" "" "" "1" "" "00006" "{PMID:Costain 2019:30293988}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Germany" "" "0" "" "" "Europe;white" "FamIIIPat1" "00447865" "" "" "" "1" "" "00006" "{PMID:Costain 2019:30293988}" "2-generation family, 2 affected, unaffected non-carrier parents (suspected maternal gonadal mosaicism)" "M" "" "Australia" "" "0" "" "" "Europe;white" "FamIVPat1" "00447866" "" "" "" "1" "" "00006" "{PMID:Costain 2019:30293988}" "half-sister" "F" "" "Australia" "" "0" "" "" "Europe;white" "FamIVPat2" "00447867" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00447868" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat2" "00447869" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00447870" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 2 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00447871" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00447872" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00447873" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00447874" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00447875" "" "" "" "1" "" "00006" "{PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00447876" "" "" "" "1" "" "00006" "{PMID:Hiraide 2019:31420595}, {PMID:Scala 2022:35851598}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "patient" "00466001" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "FR_01" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00311853" "00180" "00400075" "06382" "00434845" "00198" "00447862" "05611" "00447863" "05611" "00447864" "05611" "00447865" "05611" "00447866" "05611" "00447867" "05611" "00447868" "05611" "00447869" "05611" "00447870" "05611" "00447871" "05611" "00447872" "05611" "00447873" "05611" "00447874" "05611" "00447875" "05611" "00447876" "05611" "00466001" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00180, 00198, 05611, 06382 ## Count = 19 "{{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}}" "0000237101" "00180" "00311853" "00006" "Isolated (sporadic)" "13y02m" "no macrocephaly, no frontal bossing, no high forehead, midface hypoplasia, hypertelorism, long eyelashes, prominent eyes, anteverted nares, wide nasal bridge, short nose, long philtrum, no triangular mouth, no gingival hyperplasia, no absent uvula, no cleft soft palate, dental anomalies, micrognathia; no mesomelia; no brachydactyly; clinodactyly; no camptodactyly; no broad thumb; fetal finger/toe pads; no broad 1st toe; genital hypoplasia; no renal anomalies; no cardiac anomalies" "" "" "" "" "" "" "" "" "NEDBAF" "Robinow syndrome" "" "0000293116" "06382" "00400075" "03565" "-" "15y" "DD/ID; dysmorphic features; seizures; white matter involvement" "" "" "" "" "" "" "" "" "NEDBAF" "Syndromic intellectual disability" "" "0000325084" "00198" "00434845" "00006" "Isolated (sporadic)" "" "global developmental delay or intellectual disability, central nervous system anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000337058" "05611" "00447862" "00006" "Isolated (sporadic)" "17y" "see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; seizures; feeding difficulties; bilateral inguinal cryptorchidism; no malignancy" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337059" "05611" "00447863" "00006" "Isolated (sporadic)" "5y" "see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; seizures; feeding difficulties; no malignancy" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337060" "05611" "00447864" "00006" "Isolated (sporadic)" "5y" "see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; no feeding difficulties; no malignancy" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337061" "05611" "00447865" "00006" "Isolated (sporadic)" "19y" "see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; unilateral lambdoid craniosynostosis; severe scoliosis; no malignancy" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337062" "05611" "00447866" "00006" "Isolated (sporadic)" "14y" "see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; hydrocephalus requiring ventriculoperitoneal shunting; severe scoliosis; no malignancy" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337063" "05611" "00447867" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; seizures; musculoskeletal features; dyspraxia; no genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; stereotyped movements; no spasticity; eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337064" "05611" "00447868" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; no seizures; no musculoskeletal features; dyspraxia; no genitourinary abnormalities; normal cranial shape; no respiratory problems; behavioral disorders; stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337065" "05611" "00447869" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; no failure to thrive; no seizures; musculoskeletal features; dyspraxia; genitourinary abnormalities; normal cranial shape; respiratory problems; behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, no cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337066" "05611" "00447870" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; no failure to thrive; no seizures; musculoskeletal features; dyspraxia; genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; endocrinological features; no microcephaly; hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337067" "05611" "00447871" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; seizures; musculoskeletal features; no dyspraxia; genitourinary abnormalities; abnormal cranial shape; no respiratory problems; no behavioral disorders; no stereotyped movements; no spasticity; eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, polymicrogyria, dysgyria, no grey matter heterotopia, no cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337068" "05611" "00447872" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; no seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; abnormal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, no cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337069" "05611" "00447873" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; no dysmorphic features; no dysphagia; no failure to thrive; no seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; no respiratory problems; behavioral disorders; no stereotyped movements; no spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, no malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337070" "05611" "00447874" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; dysphagia; failure to thrive; seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; stereotyped movements; no spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, no white matter thinning, malformation cortical development, polymicrogyria, no dysgyria, no grey matter heterotopia, cerebellar dysplasia, no brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337071" "05611" "00447875" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; hypotonia; dysmorphic features; no dysphagia; failure to thrive; seizures; no musculoskeletal features; no dyspraxia; no genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000337072" "05611" "00447876" "00006" "Isolated (sporadic)" "" "see paper; ..., global developmental delay/intellectual disability; no hypotonia; no dysmorphic features; dysphagia; no failure to thrive; seizures; no musculoskeletal features; genitourinary abnormalities; normal cranial shape; respiratory problems; no behavioral disorders; no stereotyped movements; spasticity; no eye abnormalities; no endocrinological features; no microcephaly; no hearing loss; corpus callosum hypoplasia/corpus callosum agenesis, white matter thinning, malformation cortical development, no polymicrogyria, dysgyria, no grey matter heterotopia, cerebellar dysplasia, brainstem abnormalities, no Chiari I anomaly" "" "" "" "" "" "" "" "" "NEDBAF" "neurodevelopmental delay" "" "0000351388" "00198" "00466001" "03565" "Isolated (sporadic)" "" "Congenital multisystem defects" "" "" "" "" "" "" "" "" "" "Fetopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000313025" "00311853" "1" "00006" "00006" "2020-09-29 15:19:08" "" "" "SEQ" "DNA" "" "WES" "0000401318" "00400075" "1" "03565" "03565" "2022-01-24 13:02:00" "" "" "SEQ-NG" "DNA" "" "" "0000436317" "00434845" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449433" "00447862" "1" "00006" "00006" "2024-01-29 16:06:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449434" "00447863" "1" "00006" "00006" "2024-01-29 16:06:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449435" "00447864" "1" "00006" "00006" "2024-01-29 16:06:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449436" "00447865" "1" "00006" "00006" "2024-01-29 16:06:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449437" "00447866" "1" "00006" "00006" "2024-01-29 16:06:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449438" "00447867" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449439" "00447868" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449440" "00447869" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449441" "00447870" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000449442" "00447871" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA;RNA" "" "trioWGS" "0000449443" "00447872" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "gene panel" "0000449444" "00447873" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449445" "00447874" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "WES" "0000449446" "00447875" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "trio WES" "0000449447" "00447876" "1" "00006" "00006" "2024-01-29 17:14:31" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" "0000467652" "00466001" "1" "03565" "03565" "2025-07-02 17:53:12" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000313025" "RAC3" "0000401318" "RAC3" ## 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 = 27 "{{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}}" "0000694748" "0" "70" "17" "79990655" "79990655" "subst" "0" "00006" "RAC3_000001" "g.79990655C>G" "" "{PMID:White 2018:29276006}" "" "" "" "De novo" "" "" "0" "" "" "g.82032779C>G" "" "likely pathogenic (recessive)" "" "0000834524" "0" "90" "17" "79990310" "79990310" "subst" "0" "03565" "RAC3_000002" "g.79990310T>C" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000922679" "0" "90" "17" "79990661" "79990661" "subst" "0" "00006" "RAC3_000003" "g.79990661A>T" "" "{PMID:Gostain 2020:32960281}" "" "" "" "De novo" "" "" "0" "" "" "g.82032785A>T" "" "pathogenic (dominant)" "" "0000951073" "0" "30" "17" "79987415" "79987415" "subst" "0.0165495" "01804" "RAC3_000004" "g.79987415G>C" "" "" "" "LRRC45(NM_144999.2):c.1402-4G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951074" "0" "90" "17" "79990655" "79990655" "subst" "0" "02327" "RAC3_000001" "g.79990655C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959638" "0" "70" "17" "79990661" "79990661" "subst" "0" "00006" "RAC3_000003" "g.79990661A>T" "" "{PMID:Costain 2019:30293988}" "" "" "" "De novo" "" "" "0" "" "" "g.82032785A>T" "" "likely pathogenic (dominant)" "" "0000959639" "0" "70" "17" "79990313" "79990313" "subst" "0" "00006" "RAC3_000006" "g.79990313C>T" "" "{PMID:Costain 2019:30293988}" "" "" "" "De novo" "" "" "0" "" "" "g.82032437C>T" "" "likely pathogenic (dominant)" "" "0000959640" "0" "70" "17" "79990663" "79990663" "subst" "0" "00006" "RAC3_000009" "g.79990663G>A" "" "{PMID:Costain 2019:30293988}" "" "" "" "De novo" "" "" "0" "" "" "g.82032787G>A" "SCV000575128.1" "likely pathogenic (dominant)" "" "0000959641" "0" "70" "17" "79990663" "79990663" "subst" "0" "00006" "RAC3_000009" "g.79990663G>A" "" "{PMID:Costain 2019:30293988}" "" "" "suspected maternal gonadal mosaicism" "De novo" "" "" "0" "" "" "g.82032787G>A" "" "likely pathogenic (dominant)" "" "0000959642" "0" "70" "17" "79990663" "79990663" "subst" "0" "00006" "RAC3_000009" "g.79990663G>A" "" "{PMID:Costain 2019:30293988}" "" "" "suspected maternal gonadal mosaicism" "De novo" "" "" "0" "" "" "g.82032787G>A" "" "likely pathogenic (dominant)" "" "0000959643" "0" "70" "17" "79990666" "79990666" "subst" "0" "00006" "RAC3_000011" "g.79990666G>A" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032790G>A" "" "likely pathogenic (dominant)" "" "0000959644" "0" "70" "17" "79990665" "79990667" "del" "0" "00006" "RAC3_000010" "g.79990665_79990667del" "" "{PMID:Scala 2022:35851598}" "" "186_188delGGA" "" "De novo" "" "" "0" "" "" "g.82032789_82032791del" "" "likely pathogenic (dominant)" "" "0000959645" "0" "70" "17" "79990670" "79990670" "subst" "0" "00006" "RAC3_000012" "g.79990670A>G" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032794A>G" "" "likely pathogenic (dominant)" "" "0000959646" "0" "70" "17" "79990658" "79990658" "subst" "0" "00006" "RAC3_000008" "g.79990658G>A" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032782G>A" "" "likely pathogenic (dominant)" "" "0000959647" "0" "70" "17" "79989671" "79989671" "subst" "0" "00006" "RAC3_000005" "g.79989671G>C" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82031795G>C" "" "likely pathogenic (dominant)" "" "0000959648" "0" "70" "17" "79990663" "79990663" "subst" "0" "00006" "RAC3_000009" "g.79990663G>A" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032787G>A" "" "likely pathogenic (dominant)" "" "0000959649" "0" "70" "17" "79991375" "79991375" "subst" "0" "00006" "RAC3_000013" "g.79991375G>C" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82033499G>C" "" "likely pathogenic (dominant)" "" "0000959650" "0" "70" "17" "79990666" "79990666" "subst" "0" "00006" "RAC3_000011" "g.79990666G>A" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032790G>A" "" "likely pathogenic (dominant)" "" "0000959651" "0" "70" "17" "79989671" "79989671" "subst" "0" "00006" "RAC3_000005" "g.79989671G>C" "" "{PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82031795G>C" "" "likely pathogenic (dominant)" "" "0000959652" "0" "70" "17" "79990328" "79990328" "subst" "0" "00006" "RAC3_000007" "g.79990328C>G" "" "{PMID:Hiraide 2019:31420595}, {PMID:Scala 2022:35851598}" "" "" "" "De novo" "" "" "0" "" "" "g.82032452C>G" "" "likely pathogenic (dominant)" "" "0000969288" "0" "50" "17" "79991391" "79991393" "del" "0" "01804" "DCXR_000002" "g.79991391_79991393del" "" "" "" "RAC3(NM_005052.2):c.364_366del (p.(Asp122del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003846" "0" "50" "17" "79990880" "79990880" "subst" "0" "01804" "DCXR_000004" "g.79990880G>A" "" "" "" "RAC3(NM_005052.2):c.283G>A (p.(Ala95Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042285" "0" "30" "17" "79985920" "79985920" "subst" "0.00160559" "01804" "RAC3_000014" "g.79985920G>A" "" "" "" "LRRC45(NM_144999.4):c.945G>A (p.(Ser315=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042286" "0" "30" "17" "79994649" "79994649" "subst" "0.00195271" "01804" "DCXR_000005" "g.79994649G>A" "" "" "" "DCXR(NM_016286.4):c.306-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045539" "0" "90" "17" "79990277" "79990277" "subst" "0" "03565" "RAC3_000015" "g.79990277C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.82032401C>G" "" "pathogenic" "" "0001056247" "0" "50" "17" "79990878" "79990878" "subst" "1.62677E-5" "01804" "DCXR_000006" "g.79990878G>A" "" "" "" "RAC3(NM_005052.3):c.281G>A (p.(Arg94His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066904" "0" "30" "17" "79991701" "79991701" "subst" "0.00122771" "02325" "DCXR_000007" "g.79991701T>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 RAC3 ## Count = 27 "{{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}}" "0000694748" "00017352" "70" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Ala59Gly)" "" "0000834524" "00017352" "90" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Phe28Ser)" "" "0000922679" "00017352" "90" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Gln61Leu)" "" "0000951073" "00017352" "30" "-2223" "0" "-2223" "0" "c.-2223G>C" "r.(?)" "p.(=)" "" "0000951074" "00017352" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Ala59Gly)" "" "0000959638" "00017352" "70" "182" "0" "182" "0" "c.182A>T" "r.(?)" "p.(Gln61Leu)" "" "0000959639" "00017352" "70" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Pro29Leu)" "" "0000959640" "00017352" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000959641" "00017352" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000959642" "00017352" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000959643" "00017352" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Asp63Asn)" "" "0000959644" "00017352" "70" "186" "0" "188" "0" "c.186_188del" "r.(?)" "p.(Glu62del)" "" "0000959645" "00017352" "70" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Tyr64Cys)" "" "0000959646" "00017352" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000959647" "00017352" "70" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "" "0000959648" "00017352" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0000959649" "00017352" "70" "348" "0" "348" "0" "c.348G>C" "r.(?)" "p.(Lys116Asn)" "" "0000959650" "00017352" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Asp63Asn)" "" "0000959651" "00017352" "70" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "" "0000959652" "00017352" "70" "101" "0" "101" "0" "c.101C>G" "r.(?)" "p.(Pro34Arg)" "" "0000969288" "00017352" "50" "364" "0" "366" "0" "c.364_366del" "r.(?)" "p.(Asp122del)" "" "0001003846" "00017352" "50" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Ala95Thr)" "" "0001042285" "00017352" "30" "-3718" "0" "-3718" "0" "c.-3718G>A" "r.(?)" "p.(=)" "" "0001042286" "00017352" "30" "3523" "0" "3523" "0" "c.*2944G>A" "r.(=)" "p.(=)" "" "0001045539" "00017352" "90" "50" "0" "50" "0" "c.50C>G" "r.(?)" "p.(Thr17Arg)" "" "0001056247" "00017352" "50" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0001066904" "00017352" "30" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Phe192Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000313025" "0000694748" "0000401318" "0000834524" "0000436317" "0000922679" "0000449433" "0000959638" "0000449434" "0000959639" "0000449435" "0000959640" "0000449436" "0000959641" "0000449437" "0000959642" "0000449438" "0000959643" "0000449439" "0000959644" "0000449440" "0000959645" "0000449441" "0000959646" "0000449442" "0000959647" "0000449443" "0000959648" "0000449444" "0000959649" "0000449445" "0000959650" "0000449446" "0000959651" "0000449447" "0000959652" "0000467652" "0001045539"