### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAPRIN1) # 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}}" "CAPRIN1" "cell cycle associated protein 1" "11" "p13" "unknown" "NC_000011.9" "UD_132319452428" "" "http://www.LOVD.nl/CAPRIN1" "" "1" "6743" "4076" "601178" "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/CAPRIN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-24 09:30:16" "00006" "2025-12-01 13:14:17" ## 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}}" "00004343" "CAPRIN1" "transcript variant 1" "001" "NM_005898.4" "" "NP_005889.3" "" "" "" "-189" "5373" "2130" "34073230" "34124157" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07205" "CONDCAC" "nurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline" "AD" "620636" "" "" "" "00006" "2025-12-01 11:46:29" "" "" "07206" "NEDLAAD" "neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder" "AD" "620782" "" "" "" "00006" "2025-12-01 11:47:22" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CAPRIN1" "05611" "CAPRIN1" "07205" "CAPRIN1" "07206" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00231336" "" "" "" "1" "" "02317" "{PMID:Konrad 2019:31239556}" "" "M" "" "" "" "" "" "" "" "Pat32" "00416201" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "Italy" "" "0" "" "" "white" "Pat1" "00416202" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected carrier mother" "M" "" "Canada" "" "0" "" "" "Jamaica" "Pat2" "00416203" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "United States" "" "0" "" "" "white" "Pat3" "00416204" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "Finland" "" "0" "" "" "white" "Pat4" "00416205" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "Netherlands" "" "0" "" "" "white;China" "Pat5" "00416206" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "white" "Pat6" "00416207" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "Netherlands" "" "0" "" "" "white" "Pat7" "00416208" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "Canada" "" "0" "" "" "India-E" "Pat8" "00416209" "" "" "" "2" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, affected father/son" "M" "" "France" "" "0" "" "" "white" "Pat9" "00416210" "" "" "00416209" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "father" "M" "" "France" "" "0" "" "" "white" "Pat10" "00416211" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "Greece" "" "0" "" "" "white" "Pat11" "00416212" "" "" "" "1" "" "04250" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "Italy" "" "0" "" "" "white" "Pat12" "00434877" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC33" "00470329" "" "" "" "1" "" "00006" "{PMID:Delle Vedove 2022:36136249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Turkey" "" "0" "" "" "" "FamAPatII3" "00470330" "" "" "" "1" "" "00006" "{PMID:Delle Vedove 2022:36136249}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Italy" "" "0" "" "" "" "FamBPatII2" "00470331" "" "" "" "1" "" "00006" "{PMID:Bove 2025:39878554}" "2-generation family, 1 affected, unaffected non-carrier mother" "F" "" "Italy" "" "0" "" "" "" "patient" "00470332" "" "" "" "1" "" "00006" "{PMID:Delle Vedove 2022:36136249}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat3" "00470333" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD13k.03551" "00470334" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "Netherlands" "" "0" "" "" "" "rumc_patient_1542" "00470335" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "" "" "" "" "" "0" "" "" "" "2-1305-003" "00470336" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD4K.01640" "00470337" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "" "" "0" "" "" "" "76481" "00470338" "" "" "" "1" "" "00006" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DDD4K.01994" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00231336" "05162" "00416201" "05611" "00416202" "05611" "00416203" "05611" "00416204" "05611" "00416205" "05611" "00416206" "05611" "00416207" "05611" "00416208" "05611" "00416209" "05611" "00416210" "05611" "00416211" "05611" "00416212" "05611" "00434877" "00198" "00470329" "05611" "00470330" "05611" "00470331" "05611" "00470332" "05611" "00470333" "05611" "00470334" "05611" "00470335" "05611" "00470336" "05611" "00470337" "05611" "00470338" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05162, 05611, 07205, 07206 ## Count = 24 "{{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}}" "0000307966" "05611" "00416201" "04250" "Isolated (sporadic)" "07y" "see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; no intellectual disability; attention deficit hyperactivity disorder; no developmental delay; speech dyspraxia; MRI brain normal; no seizures; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; cafe-au-lait spot" "" "" "" "" "" "" "" "" "CONDAC" "neurodevelopmental disorder" "" "0000307967" "05611" "00416202" "04250" "Familial" "12y" "see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; MRI brain white matter gliosis; seizures; EEG anomalies; hands bilateral clinodactyly of the V digit, feet small sandal gap and mild bilateral V digit brachydactyly; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; feeding difficulties" "" "" "" "" "" "" "" "" "CONDAC" "neurodevelopmental disorder" "" "0000307968" "05611" "00416203" "04250" "Isolated (sporadic)" "06y" "see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; developmental delay; no seizures; EEG normal; hands foetal pads; stubby fingers, feet clinodactyl y of the IV and V digit bilaterally; no skeletal malformations; no breathing problems; no ocular anomalies; right ear mild hearing loss; mild right hearing loss, high pain threshold" "" "" "" "" "" "" "" "" "NEDLAAD" "neurodevelopmental disorder" "" "0000307969" "05611" "00416204" "04250" "Isolated (sporadic)" "17y" "see paper; ..., 32w-brith; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; anxiety; MRI brain hypoplastic right olfactory bulb; seizures; EEG normal; hands clinodactyly, short V digits bilaterally, right hand single palmar crease, very short distal phalanx and hypoplastic nail; mild kyphoscoliosis, U-shaped cleft palate, supernumerar y tooth; obstructive sleep apnoea, sudden chocking spells; astigmatism, myopia; required myringotomy during infancy; gastrointestinal issues" "" "" "" "" "" "" "" "" "NEDLAAD" "neurodevelopmental disorder" "" "0000307970" "05611" "00416205" "04250" "Isolated (sporadic)" "10y" "see paper; ..., postnatal saturation dips; language impairment/delay; autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; no seizures; EEG normal; flexible joints of hands and feet; no skeletal malformations; respiratory difficulties at birth, mild asthmatic symptoms; hypermetropia, strabismus; no hearing problems; feeding difficulties" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307971" "05611" "00416206" "04250" "Isolated (sporadic)" "8y" "see paper; ..., difficulties with respiration and required stimulation after birth; language impairment/delay; no autism spectrum disorder; no intellectual disability; attention deficit hyperactivity disorder; no developmental delay; dyslexia; no seizures; no hand/feet malformations; no skeletal malformations; respiratory difficulties at birth; no ocular anomalies; no hearing problems" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307972" "05611" "00416207" "04250" "Isolated (sporadic)" "7y" "see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; severe intellectual disability; no developmental delay; no seizures; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307973" "05611" "00416208" "04250" "Isolated (sporadic)" "07y" "see paper; ..., birth respiratory distress; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; no seizures; no hand/feet malformations; no skeletal malformations; respiratory distress at birth; no ocular anomalies; no hearing problems; gastrointestinal issues" "" "" "" "" "" "" "" "" "NEDLAAD" "neurodevelopmental disorder" "" "0000307974" "05611" "00416209" "04250" "Familial, autosomal dominant" "12y" "see paper; ..., birth need for aspiration before spontaneous breathing; language impairment/delay; no autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; restlessness; MRI brain normal; no seizures; hands foetal pads, feet overlap of 2nd digit on 3rd one (present also in the mother); mild pectus excavatum, U- shaped cleft palate, supernumerary central incisors; need for aspiration before spontaneous breathing at birth; strabismus, astigmatism; no hearing problems; cafe-au-lait spot" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307975" "05611" "00416210" "04250" "Unknown" "48y" "see paper; ..., incubator at birth, transitory use of oxygen mask; language impairment/delay; no autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; hetero aggressivity during adolescence; no seizures; no hand/feet malformations; no skeletal malformations; recurrent viral lung infections; strabismus, presbyopia; left ear hearing loss of about 30%" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307976" "05611" "00416211" "04250" "Isolated (sporadic)" "3y" "see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; no attention deficit hyperactivity disorder; developmental delay; anxiety, episodes of aggressivity; MRI brain mild thinner corpus callosum, small supernumerary cavum veli interpositum, increased T2 and FLAIR signals in lateral periventricular spaces, related with existence of perivascular areas and terminal myelination zones; seizures; EEG anomalies; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; cafe-au-lait spot" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000307977" "05611" "00416212" "04250" "Isolated (sporadic)" "10y" "see paper; ..., normal birth; language impairment/delay; no autism spectrum disorder; severe intellectual disability; attention deficit hyperactivity disorder; no developmental delay; aggressive behaviour; MRI brain hypoplastic corpus callosum rostrum; seizures; EEG anomalies; hand triphalangeal thumb, feet bilateral enlargement of I digit; scoliosis; no breathing problems; no ocular anomalies; no hearing problems" "" "" "" "" "" "" "" "" "NEDLAAD" "neurodevelopmental disorder" "" "0000325116" "00198" "00434877" "00006" "Unknown" "" "arthrogryposis, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "0000355395" "05162" "00231336" "02317" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "MRD21" "developmental delay" "" "0000355478" "05611" "00470329" "00006" "Isolated (sporadic)" "16y" "see paper; ..., 10y-gait abnormalities, proximal muscle weakness, positive Gower’s sign; increasing muscle weakness, ataxia, light tremor, dysdiadochokinesis; scoliosis, confined to wheelchair and later confined to bed; dysphagia, dysarthria; 16y-cerebral atrophy, cerebellar atrophy" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355479" "05611" "00470330" "00006" "Isolated (sporadic)" "13y" "see paper; ..., first words with slight phonetic problems, 4y-dysarthria; 7y-slowly progressive ataxia, learning difficulties (IQ77); 11y-trunk stability worsened, standing up difficult; 12y-MRI global cerebellar atrophy; 13y-increased muscle fatigue, muscle hypotrophy, absent deep tendon reflexes all four limbs, increasingly anxious (improved with psychotherapy)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355480" "05611" "00470331" "00006" "Unknown" "13y" "see paper; ..., 8y-insidious motor clumsiness; 10y-gait instability, recurrent falls; cognitive decline, learning difficulties, language difficulties, IQ65; 11y-mild generalized ataxia, bradykinesia, osteotendinous hyporeflexia, mild muscle atrophy; spontaneous and evoked arrhythmic muscle jerks upper limbs, EEG bilateral spike–wave; MRI brain progressive frontal lobe, cerebellar atrophy" "" "" "" "" "" "" "" "" "CONDCAC" "neurodevelopmental disorder" "" "0000355481" "05611" "00470332" "00006" "Isolated (sporadic)" "14y" "cerebellar atrophy, ataxia, motor to sensory axonal neuropathy" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355482" "05611" "00470333" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355483" "05611" "00470334" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355484" "05611" "00470335" "00006" "Isolated (sporadic)" "" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000355485" "05611" "00470336" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355486" "05611" "00470337" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000355487" "05611" "00470338" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, deveopmental delay" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232433" "00231336" "1" "02317" "02317" "2019-04-30 12:44:48" "" "" "SEQ-NG" "DNA" "" "" "0000417480" "00416201" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "arrayCGH" "DNA" "" "" "0000417481" "00416202" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000417482" "00416203" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000417483" "00416204" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417484" "00416205" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417485" "00416206" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417486" "00416207" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417487" "00416208" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417488" "00416209" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417489" "00416210" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417490" "00416211" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000417491" "00416212" "1" "04250" "00006" "2022-08-24 12:29:18" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436349" "00434877" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471996" "00470329" "1" "00006" "00006" "2025-12-01 11:59:52" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WGS" "0000471997" "00470330" "1" "00006" "00006" "2025-12-01 12:03:20" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000471998" "00470331" "1" "00006" "00006" "2025-12-01 12:16:28" "" "" "SEQ-NG" "DNA" "" "" "0000471999" "00470332" "1" "00006" "00006" "2025-12-01 12:20:05" "" "" "SEQ-NG" "DNA" "" "" "0000472000" "00470333" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472001" "00470334" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472002" "00470335" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000472003" "00470336" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472004" "00470337" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472005" "00470338" "1" "00006" "00006" "2025-12-01 13:14:15" "" "" "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 = 34 "{{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}}" "0000543834" "0" "30" "11" "34074011" "34074011" "subst" "4.28178E-6" "01804" "CAPRIN1_000001" "g.34074011C>G" "" "" "" "CAPRIN1(NM_005898.4):c.44C>G (p.(Ser15Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34052464C>G" "" "likely benign" "" "0000543835" "0" "50" "11" "34107748" "34107748" "dup" "0" "01943" "CAPRIN1_000002" "g.34107748dup" "" "" "" "CAPRIN1(NM_005898.5):c.1104dupT (p.P369Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34086201dup" "" "VUS" "" "0000543836" "0" "30" "11" "34113474" "34113474" "subst" "4.89025E-5" "01804" "CAPRIN1_000003" "g.34113474G>C" "" "" "" "CAPRIN1(NM_005898.4):c.1576G>C (p.(Val526Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34091927G>C" "" "likely benign" "" "0000877164" "0" "90" "11" "33800000" "35050000" "del" "0" "04250" "CAPRIN1_000004" "g.(?_33800000)_(35050000_?)del" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "del(11)(p13)" "1.14 Mb deletion spanning eight genes, incl. CAPRIN1" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000877165" "21" "90" "11" "34093336" "34093336" "subst" "0" "04250" "CAPRIN1_000005" "g.34093336G>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34071789G>T" "" "pathogenic (dominant)" "" "0000877166" "0" "90" "11" "34104424" "34104424" "subst" "0" "04250" "CAPRIN1_000006" "g.34104424G>A" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34082877G>A" "" "pathogenic (dominant)" "" "0000877167" "0" "90" "11" "34104514" "34104514" "subst" "0" "04250" "CAPRIN1_000007" "g.34104514C>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34082967C>T" "" "pathogenic (dominant)" "" "0000877168" "0" "90" "11" "34104550" "34104550" "subst" "0" "04250" "CAPRIN1_000008" "g.34104550A>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34083003A>T" "" "pathogenic (dominant)" "" "0000877169" "0" "90" "11" "34107716" "34107716" "subst" "4.06227E-6" "04250" "CAPRIN1_000009" "g.34107716C>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34086169C>T" "" "pathogenic (dominant)" "" "0000877170" "0" "90" "11" "34107747" "34107747" "delins" "0" "04250" "CAPRIN1_000010" "g.34107747delinsTATGT" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34086200delinsTATGT" "" "pathogenic (dominant)" "" "0000877171" "0" "90" "11" "34107924" "34107924" "subst" "0" "04250" "CAPRIN1_000011" "g.34107924C>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34086377C>T" "" "pathogenic (dominant)" "" "0000877172" "11" "90" "11" "34111804" "34111804" "subst" "0" "04250" "CAPRIN1_000012" "g.34111804C>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34090257C>T" "" "pathogenic (dominant)" "" "0000877173" "0" "90" "11" "34111804" "34111804" "subst" "0" "04250" "CAPRIN1_000012" "g.34111804C>T" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34090257C>T" "" "pathogenic (dominant)" "" "0000877174" "0" "90" "11" "34112164" "34112167" "del" "0" "04250" "CAPRIN1_000013" "g.34112164_34112167del" "" "{PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34090617_34090620del" "" "pathogenic (dominant)" "" "0000877175" "0" "90" "11" "34118064" "34118064" "subst" "0" "04250" "CAPRIN1_000014" "g.34118064C>T" "" "{PMID:Conteduca 2025:40112765}, {PMID:Pavinato 2022:35979925}, {DOI:Pavinato 2022:10.1093/brain/awac278}" "" "" "" "Germline" "" "" "0" "" "" "g.34096517C>T" "" "pathogenic (dominant)" "" "0000922711" "0" "70" "11" "34111770" "34111770" "subst" "0" "00006" "CAPRIN1_000015" "g.34111770A>T" "" "{PMID:Gostain 2020:32960281}" "" "" "candidate disease gene" "De novo" "" "" "0" "" "" "g.34090223A>T" "" "VUS" "" "0000979553" "0" "50" "11" "34101309" "34101309" "subst" "0" "01804" "CAPRIN1_000016" "g.34101309G>A" "" "" "" "CAPRIN1(NM_005898.5):c.823G>A (p.(Ala275Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999001" "0" "30" "11" "34074097" "34074097" "subst" "1.72344E-5" "01804" "CAPRIN1_000017" "g.34074097A>G" "" "" "" "CAPRIN1(NM_005898.4):c.130A>G (p.(Thr44Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999002" "0" "30" "11" "34098028" "34098028" "subst" "4.06296E-5" "01804" "CAPRIN1_000018" "g.34098028G>A" "" "" "" "CAPRIN1(NM_005898.4):c.605+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999003" "0" "50" "11" "34112095" "34112095" "subst" "0" "01804" "CAPRIN1_000019" "g.34112095C>G" "" "" "" "CAPRIN1(NM_005898.4):c.1424C>G (p.(Thr475Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999004" "0" "30" "11" "34113599" "34113599" "subst" "8.15282E-6" "01804" "CAPRIN1_000020" "g.34113599A>C" "" "" "" "CAPRIN1(NM_005898.4):c.1701A>C (p.(Gln567His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038424" "0" "30" "11" "34093267" "34093267" "subst" "4.07087E-6" "01804" "CAPRIN1_000021" "g.34093267A>C" "" "" "" "CAPRIN1(NM_005898.5):c.217-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038425" "0" "30" "11" "34111844" "34111844" "subst" "4.07292E-6" "01804" "CAPRIN1_000022" "g.34111844C>G" "" "" "" "CAPRIN1(NM_005898.5):c.1404+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060308" "0" "70" "11" "34107858" "34107858" "subst" "4.07183E-6" "00006" "CAPRIN1_000023" "g.34107858A>G" "" "{PMID:Konrad 2019:31239556}" "" "" "" "De novo" "" "" "0" "" "" "g.34086311A>G" "" "VUS" "" "0001060393" "0" "70" "11" "34112206" "34112206" "subst" "0" "00006" "CAPRIN1_000024" "g.34112206C>T" "" "{PMID:Delle Vedove 2022:36136249}" "" "" "" "De novo" "" "" "0" "" "" "g.34090659C>T" "" "likely pathogenic (dominant)" "" "0001060394" "0" "70" "11" "34112206" "34112206" "subst" "0" "00006" "CAPRIN1_000024" "g.34112206C>T" "" "{PMID:Delle Vedove 2022:36136249}" "" "" "" "De novo" "" "" "0" "" "" "g.34090659C>T" "" "likely pathogenic (dominant)" "" "0001060395" "0" "70" "11" "34112206" "34112206" "subst" "0" "00006" "CAPRIN1_000024" "g.34112206C>T" "" "{PMID:Bove 2025:39878554}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.34090659C>T" "" "likely pathogenic (dominant)" "" "0001060396" "0" "70" "11" "34112206" "34112206" "subst" "0" "00006" "CAPRIN1_000024" "g.34112206C>T" "" "pers.comm. in {PMID:Delle Vedove 2022:36136249}" "" "" "" "De novo" "" "" "0" "" "" "g.34090659C>T" "" "likely pathogenic (dominant)" "" "0001060397" "0" "70" "11" "34097806" "34097807" "del" "0" "00006" "CAPRIN1_000025" "g.34097806_34097807del" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.34076259_34076260del" "" "likely pathogenic (dominant)" "" "0001060398" "0" "70" "11" "34107762" "34107762" "subst" "0" "00006" "CAPRIN1_000026" "g.34107762T>A" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.34086215T>A" "" "likely pathogenic (dominant)" "" "0001060399" "0" "70" "11" "34107924" "34107924" "subst" "0" "00006" "CAPRIN1_000011" "g.34107924C>T" "" "{PMID:Jia 2022:35977029}, {PMID:Yuen 2017:28263302}" "" "" "" "De novo" "" "" "0" "" "" "g.34086377C>T" "" "likely pathogenic (dominant)" "" "0001060400" "0" "70" "11" "34110982" "34110982" "dup" "0" "00006" "CAPRIN1_000027" "g.34110982dup" "" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "" "" "" "De novo" "" "" "0" "" "" "g.34089435dup" "" "likely pathogenic (dominant)" "" "0001060401" "0" "70" "11" "34111770" "34111770" "subst" "0" "00006" "CAPRIN1_000015" "g.34111770A>T" "" "{PMID:Jia 2022:35977029}, {PMID:Joanna 2020:33057194}" "" "" "" "De novo" "" "" "0" "" "" "g.34090223A>T" "" "likely pathogenic (dominant)" "" "0001060402" "0" "70" "11" "34112122" "34112122" "subst" "0" "00006" "CAPRIN1_000028" "g.34112122T>C" "" "{PMID:Jia 2022:35977029}, {PMID:McRae 2017:28135719}" "" "" "" "De novo" "" "" "0" "" "" "g.34090575T>C" "" "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 CAPRIN1 ## Count = 34 "{{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}}" "0000543834" "00004343" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ser15Cys)" "" "0000543835" "00004343" "50" "1104" "0" "1104" "0" "c.1104dup" "r.(?)" "p.(Pro369SerfsTer3)" "" "0000543836" "00004343" "30" "1576" "0" "1576" "0" "c.1576G>C" "r.(?)" "p.(Val526Leu)" "" "0000877164" "00004343" "90" "0" "0" "0" "0" "c.-189_*3243{0}" "r.?" "p.?" "_1_19_" "0000877165" "00004343" "90" "279" "1" "279" "1" "c.279+1G>T" "r.217_279del" "p.Gly73_Lys93del" "" "0000877166" "00004343" "90" "879" "0" "879" "0" "c.879G>A" "r.827_879del" "p.Glu276Valfs*4" "" "0000877167" "00004343" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298Ter)" "" "0000877168" "00004343" "90" "928" "0" "928" "0" "c.928A>T" "r.(?)" "p.(Lys310Ter)" "" "0000877169" "00004343" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Arg358Ter)" "" "0000877170" "00004343" "90" "1103" "0" "1103" "0" "c.1103delinsTATGT" "r.(?)" "p.(Gly368ValfsTer5)" "" "0000877171" "00004343" "90" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Gln399Ter)" "" "0000877172" "00004343" "90" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Ter)" "" "0000877173" "00004343" "90" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Ter)" "" "0000877174" "00004343" "90" "1493" "0" "1496" "0" "c.1493_1496del" "r.(?)" "p.(Ser498AsnfsTer10)" "" "0000877175" "00004343" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Gln582Ter)" "" "0000922711" "00004343" "70" "1338" "0" "1338" "0" "c.1338A>T" "r.(?)" "p.(Gln446His)" "" "0000979553" "00004343" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Ala275Thr)" "" "0000999001" "00004343" "30" "130" "0" "130" "0" "c.130A>G" "r.(?)" "p.(Thr44Ala)" "" "0000999002" "00004343" "30" "605" "7" "605" "7" "c.605+7G>A" "r.(=)" "p.(=)" "" "0000999003" "00004343" "50" "1424" "0" "1424" "0" "c.1424C>G" "r.(?)" "p.(Thr475Arg)" "" "0000999004" "00004343" "30" "1701" "0" "1701" "0" "c.1701A>C" "r.(?)" "p.(Gln567His)" "" "0001038424" "00004343" "30" "217" "-6" "217" "-6" "c.217-6A>C" "r.(=)" "p.(=)" "" "0001038425" "00004343" "30" "1404" "8" "1404" "8" "c.1404+8C>G" "r.(=)" "p.(=)" "" "0001060308" "00004343" "70" "1129" "0" "1129" "0" "c.1129A>G" "r.(?)" "p.(Met377Val)" "" "0001060393" "00004343" "70" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "14" "0001060394" "00004343" "70" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "14" "0001060395" "00004343" "70" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "14" "0001060396" "00004343" "70" "1535" "0" "1535" "0" "c.1535C>T" "r.(?)" "p.(Pro512Leu)" "14" "0001060397" "00004343" "70" "390" "0" "391" "0" "c.390_391del" "r.(?)" "p.(Ala131ThrfsTer11)" "5" "0001060398" "00004343" "70" "1118" "0" "1118" "0" "c.1118T>A" "r.(?)" "p.(Ile373Lys)" "10" "0001060399" "00004343" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Gln399Ter)" "11" "0001060400" "00004343" "70" "1272" "0" "1272" "0" "c.1272dup" "r.(?)" "p.(Val425CysfsTer16)" "12" "0001060401" "00004343" "70" "1338" "0" "1338" "0" "c.1338A>T" "r.(?)" "p.(Gln446His)" "13" "0001060402" "00004343" "70" "1451" "0" "1451" "0" "c.1451T>C" "r.(?)" "p.(Leu484Pro)" "14" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000232433" "0001060308" "0000417480" "0000877164" "0000417481" "0000877165" "0000417482" "0000877166" "0000417483" "0000877167" "0000417484" "0000877168" "0000417485" "0000877169" "0000417486" "0000877170" "0000417487" "0000877171" "0000417488" "0000877172" "0000417489" "0000877173" "0000417490" "0000877174" "0000417491" "0000877175" "0000436349" "0000922711" "0000471996" "0001060393" "0000471997" "0001060394" "0000471998" "0001060395" "0000471999" "0001060396" "0000472000" "0001060397" "0000472001" "0001060398" "0000472002" "0001060399" "0000472003" "0001060400" "0000472004" "0001060401" "0000472005" "0001060402"