### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GOSR2) # 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}}" "GOSR2" "golgi SNAP receptor complex member 2" "17" "q21" "unknown" "NG_031806.2" "UD_132464948954" "" "https://www.LOVD.nl/GOSR2" "" "1" "4431" "9570" "604027" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GOSR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-20 11:31:55" "00000" "2025-02-07 18:57:27" ## 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}}" "00023837" "GOSR2" "transcript variant A" "001" "NM_004287.3" "" "NP_004278.2" "" "" "" "-73" "3246" "639" "45000486" "45018733" "00008" "2013-09-26 17:31:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "03386" "SPAX4" "ataxia, spastic, type 4, autosomal dominant (SPAX-4)" "AR" "613672" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03454" "EPM" "epilepsy, myoclonic, progressive (EPM)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-01 10:29:51" "03514" "EPM6" "epilepsy, myoclonic, progressive, type 6 (EPM-6)" "AR" "614018" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GOSR2" "03454" "GOSR2" "03514" ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{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}}" "00054866" "" "" "" "1" "" "01479" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "?;Pat5" "00054881" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "yes" "Australia" "32y" "0" "" "" "" "Pat1" "00054882" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "no" "Germany" ">17y" "0" "" "" "" "Pat2" "00054883" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "no" "Netherlands" ">32y" "0" "" "" "" "Pat3" "00054884" "" "" "" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sib" "F" "no" "Netherlands" ">30y" "0" "" "" "" "Pat4" "00054885" "" "" "" "2" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "2-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F" "no" "Netherlands" "24y" "0" "" "" "" "Pat5a" "00054886" "" "" "00054885" "1" "" "00006" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "brother of 5a" "M" "no" "Netherlands" ">28y" "0" "" "" "" "Pat5b" "00054887" "" "" "" "1" "" "00006" "{PMID:Van Egmond 2014:24458321}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:Polet 2020:32105965}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" ">19y" "0" "" "" "" "Pat1;Pat8" "00054888" "" "" "" "1" "" "00006" "{PMID:Van Egmond 2014:24458321}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:Polet 2020:32105965}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" ">26y" "0" "" "" "" "Pat2;Pat12" "00054889" "" "" "" "1" "" "00006" "{PMID:Van Egmond 2014:24458321}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:Polet 2020:32105965}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" ">20y" "0" "" "" "" "Pat3;Pat9" "00054890" "" "" "" "1" "" "00006" "{PMID:Van Egmond 2014:24458321}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:Polet 2020:32105965}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" ">12y" "0" "" "" "" "Pat4;Pat5" "00054891" "" "" "" "1" "" "00006" "{PMID:Van Egmond 2014:24458321}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:van Egmond 2015:30713879}, {PMID:Polet 2020:32105965}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Netherlands" ">07y" "0" "" "" "" "Pat5;patient;Pat4" "00154385" "" "" "" "1" "" "02248" "" "" "F" "no" "United States" "" "0" "" "" "" "" "00291768" "" "" "" "134" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291769" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291770" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304587" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00399378" "" "" "" "1" "" "00006" "{PMID:Praschberger 2015:30363482}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "United Kingdom (Great Britain)" ">61y" "0" "" "" "" "patient" "00399381" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "patient, second cousin parents" "M" "yes" "Norway" "" "0" "" "" "" "Pat6" "00399382" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat7" "00399383" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "M" "" "Netherlands" "27y" "0" "" "" "" "Pat8" "00399384" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "F" "" "Germany" "" "0" "" "" "" "Pat9" "00399385" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "M" "yes" "Denmark" "" "0" "" "" "" "Pat10" "00399386" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}, {PMID:Polet 2020:32105965}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat11;Pat7" "00399389" "" "" "" "3" "" "00006" "{PMID:Anderson 2016:30838261}, {PMID:Polet 2020:32105965}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "" "South Africa" "" "0" "" "" "Germany-N" "PatIV1;Pat6" "00399390" "" "" "00399389" "1" "" "00006" "{PMID:Anderson 2016:30838261}, {PMID:Polet 2020:32105965}" "PatIV5" "F" "" "South Africa" "" "0" "" "" "Germany-N" "PatIV5;Pat15" "00399391" "" "" "00399389" "1" "" "00006" "{PMID:Anderson 2016:30838261}, {PMID:Polet 2020:32105965}" "PatIV6" "F" "" "South Africa" "" "0" "" "" "Germany-N" "PatIV6;Pat13" "00399392" "" "" "" "2" "" "00006" "{PMID:Larson 2018:29855340}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "FamPat2" "00399395" "" "" "" "1" "" "00006" "{PMID:Henige 2021:33639315}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white;Germany/UK" "patient" "00399409" "" "" "" "1" "" "00006" "{DOI:Tsai 2013:10.1016/j.nmd.2013.06.404}, WMS Abs P1.20" "" "M" "" "Australia" "" "0" "" "" "" "patient" "00399410" "" "" "" "8" "" "00006" "{PMID:Polet 2020:32105965}" "8 new patients" "F;M" "" "" "" "0" "" "" "" "patients" "00399412" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "" "" "0" "" "" "" "" "00399413" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "" "" "0" "" "" "" "" "00399414" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "" "" "0" "" "" "" "" "00399416" "" "" "" "1" "" "00006" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "" "" "0" "" "" "" "" "00401199" "" "" "" "1" "" "00006" "{PMID:Stemmerik 2021:34167170}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00401200" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00401201" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00401202" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00401203" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00401204" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00401205" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00401206" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "F" "" "" "" "0" "" "" "" "Pat16" "00401207" "" "" "" "1" "" "00006" "{PMID:Polet 2020:32105965}" "" "F" "" "" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00054866" "03386" "00054881" "03514" "00054882" "03514" "00054883" "03514" "00054884" "03514" "00054885" "03514" "00054886" "03514" "00054887" "03514" "00054888" "03514" "00054889" "03514" "00054890" "03514" "00054891" "03514" "00154385" "03514" "00291768" "00198" "00291769" "00198" "00291770" "00198" "00304587" "00198" "00399378" "03454" "00399381" "03454" "00399382" "03454" "00399383" "03454" "00399384" "03454" "00399385" "03454" "00399386" "03454" "00399389" "03454" "00399390" "03454" "00399391" "03454" "00399392" "05521" "00399395" "00360" "00399409" "00360" "00399410" "03454" "00399412" "03454" "00399413" "03454" "00399414" "03454" "00399416" "03454" "00401199" "00244" "00401200" "03454" "00401201" "03454" "00401202" "03454" "00401203" "03454" "00401204" "03454" "00401205" "03454" "00401206" "03454" "00401207" "03454" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 00360, 03386, 03454, 03514, 05521 ## Count = 35 "{{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}}" "0000041530" "03386" "00054866" "01479" "Familial, autosomal recessive" "" "ataxia, myoclonus, dystonia, epilepsy, high CK" "02y" "" "" "" "" "" "" "" "EPM6" "cerebellar ataxia" "" "0000041542" "03514" "00054881" "00006" "Isolated (sporadic)" "" "7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)" "2y" "" "ataxia" "" "" "" "" "" "" "" "" "0000041543" "03514" "00054882" "00006" "Isolated (sporadic)" "" "4y tremor; 6y myoclonus; 14y drop attacks; myoclonic status; 2y areflexia; 15y wheelchair; normal cognition; scoliosis; EEG generalized spike-wave, posterior emphasis photosensitive; CK 150–580 (normal <170)" "1y6m" "" "ataxia" "" "" "" "" "" "" "" "" "0000041544" "03514" "00054883" "00006" "Isolated (sporadic)" "" "6y myoclonus; 14y convulsive seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis, syndactly; EEG generalized spike-wave photosensitive; CK 141–267 (normal <170)" "3y" "" "ataxia" "" "" "" "" "" "" "" "" "0000041545" "03514" "00054884" "00006" "Isolated (sporadic)" "" "5y fine motor problems; 7y worsening ataxia; 6y absences; 10y myoclonus; 12y tonic-clonic; 14y drop attacks; 7y areflexia; 24y wheelchair; normal cognition until 25y, memory difficulties later; scoliosis, syndactly; EEG generalized spike-wave, posterior emphasis photosensitive; CK 700–900 (normal <170)" "2y" "" "acute ataxia, improved" "" "" "" "" "" "" "" "" "0000041546" "03514" "00054885" "00006" "Isolated (sporadic)" "" "6y myoclonus; 21y tonic-clonic seizures; 6y areflexia; 14y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 300–668 (normal <170)" "2y6m" "" "ataxia" "" "" "" "" "" "" "" "" "0000041547" "03514" "00054886" "00006" "Isolated (sporadic)" "" "5.5y myoclonus; 24y tonic-clonic seizures; absences; tonic seizures; 3y areflexia; 13y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 174–213 (normal <170)" "2y6m" "" "ataxia" "" "" "" "" "" "" "" "" "0000041548" "03514" "00054887" "00006" "Isolated (sporadic)" "" "Ramsay Hunt Syndrome; 3y ataxia, 5y myoclonus, 9y tonic seizures, 3y areflexia, scoliosis; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 5y muscle histology normal; 19y ambulant; normal cognition" "2y" "" "gait disorder, clumsiness" "" "" "" "" "" "" "" "" "0000041549" "03514" "00054888" "00006" "Isolated (sporadic)" "" "Ramsay Hunt Syndrome; 3y ataxia, 6y myoclonus, 11y generalized tonic clonic seizures, 6y areflexia (not tested earlier), no skeletal abnormaliatie;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 19y ambulant; mild learning difficulties" "2y" "" "gait disorder, clumsiness" "" "" "" "" "" "" "" "" "0000041550" "03514" "00054889" "00006" "Isolated (sporadic)" "" "Ramsay Hunt Syndrome; 2y ataxia, 6y myoclonus, 6y generalized tonic clonic seizures, 9y areflexia (not tested earlier), scoliosis, syndactyl;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy; CK normal; 8y wheelchair-bound; mild learning difficulties" "2y" "" "gait disorder, clumsiness" "" "" "" "" "" "" "" "" "0000041551" "03514" "00054890" "00006" "Isolated (sporadic)" "" "Ramsay Hunt Syndrome; 5y ataxia, 8y myoclonus, 3y clonic seizures, 5y areflexia, scoliosis,; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK 400-500 (normal <200); 7y/10y muscle histology normal; 12y ambulant; normal cognition" "3y" "" "febrile seizures" "" "" "" "" "" "" "" "" "0000041552" "03514" "00054891" "00006" "Isolated (sporadic)" "" "2y-frequent falls, clumsy gait; 3y ataxia, 6y myoclonus, no seizures, 3y areflexia, no skeletal abnormalities; 3y EMG normal; CK normal; 7y ambulant; normal cognition" "02y" "" "gait disorder, clumsiness" "" "" "" "" "" "EPM6" "2y-frequent falls, clumsy gait" "" "0000127062" "03514" "00154385" "02248" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000292489" "03454" "00399378" "00006" "Familial, autosomal recessive" "61y" "see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292491" "03454" "00399381" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., 1y-ataxia; 4y6m-myoclonus; nocturnal status myoclonica; 8y6m-generalized tonic clonic seizures; 14m-febrile convulsion; scoliosis, thickened webbing between second and third toe; highest CK 1135 IU; 11y-wheelchair bound" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292493" "03454" "00399382" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292494" "03454" "00399383" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292495" "03454" "00399384" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 2y-ataxia; 6y-myoclonus; 10y-generalized tonic clonic seizures; drop attacks; scoliosis, pes cavus; highest CK 500 IU; 14y-wheelchair bound" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292496" "03454" "00399385" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 3y-ataxia; 12y-myoclonus; 3y-generalized tonic clonic seizures, absence, drop attacks; scoliosis; highest CK 391 IU; 24y-wheelchair bound; 26y-dysphagia" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292497" "03454" "00399386" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., 2y3m-ataxia; 6y-myoclonus; 12y-generalized tonic clonic seizures; scoliosis, pes cavus; highest CK 989 IU; 10y-wheelchair bound; dysphagia early childhood" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292500" "03454" "00399389" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292501" "03454" "00399390" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292502" "03454" "00399391" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000292503" "05521" "00399392" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "EPM6" "seizures" "" "0000292506" "00360" "00399395" "00006" "Familial, autosomal recessive" "01y10m" "see paper; ..., congenital muscular dystrophy; 22m-no clinical seizures, EEG abnormal; severe hypotonia, areflexia, global developmental delays; nystagmus; elevated CK, normal serum O-glycan analysis" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000292520" "00360" "00399409" "00006" "Familial, autosomal recessive" "00y08m14d" "born with mild hypotonia; severe developmental delay, optic nerve atrophy; serum creatine kinase 5582; MRI brainperiventricular white matter loss, ventriculomegaly, athin corpus callosum; muscle biopsy severe non-specific dystrophic changes" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000294242" "00244" "00401199" "00006" "Familial, autosomal recessive" "48y" "see paper; ..., 4y-frequent falls" "04y" "" "" "" "" "" "" "" "" "" "" "0000294243" "03454" "00401200" "00006" "Familial, autosomal recessive" "5y" "2-3y-trembling/jerks, frequently falling; 4y-ataxia; 4y-myoclonus; walks" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294244" "03454" "00401201" "00006" "Familial, autosomal recessive" "8y" "1-2y-delayed motor development (difficulties sitting without support, 22m-walk), gait disorder, frequently falling, clumsiness, hypotonia; 2y-ataxia; 5y-myoclonus; 7y-seizures; walks" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294245" "03454" "00401202" "00006" "Familial, autosomal recessive" "8y" "1y-clumsiness, frequently falling; 2y-ataxia during intercurrent illness; 2y-ataxia; 3y-myoclonus; 7y-seizures; scoliosis, pes varus; barely walks, frequent use wheelchair; CK 2816" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294246" "03454" "00401203" "00006" "Familial, autosomal recessive" "31y" "slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294247" "03454" "00401204" "00006" "Familial, autosomal recessive" "31y" "birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294248" "03454" "00401205" "00006" "Familial, autosomal recessive" "36y" "2y-delayed motor development (2y-walk), gait disorder; ataxia; myoclonus; 6/7y-seizures; wheelchair bound; CK 237" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294249" "03454" "00401206" "00006" "Familial, autosomal recessive" "41y" "birth-hypotonia; 13m-walk on toes and needed support during walking; 4y-gait disorder, motoric skill impairment; ataxia; 5-6y-myoclonus; 8y-seizures; scoliosis; wheelchair bound" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" "0000294250" "03454" "00401207" "00006" "Familial, autosomal recessive" "46y" "2y-clumsiness, frequently falling, gait disorder after intercurrent illness; 3y-ataxia; 4y-myoclonus; 6y/7y-seizures; pes cavus; wheelchair bound" "" "" "" "" "" "" "" "" "EPM6" "progressive myoclonus epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054818" "00054866" "1" "01479" "01479" "2015-11-30 15:31:30" "" "" "SEQ-NG" "DNA" "" "" "0000054833" "00054881" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000054834" "00054882" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "SEQ" "DNA" "" "" "0000054835" "00054883" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "SEQ" "DNA" "" "" "0000054836" "00054884" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "SEQ" "DNA" "" "" "0000054837" "00054885" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "SEQ" "DNA" "" "" "0000054838" "00054886" "1" "00006" "00006" "2015-12-01 04:31:33" "" "" "SEQ" "DNA" "" "" "0000054839" "00054887" "1" "00006" "00006" "2015-12-01 05:01:25" "" "" "SEQ" "DNA" "" "" "0000054840" "00054888" "1" "00006" "00006" "2015-12-01 05:01:25" "" "" "SEQ" "DNA" "" "" "0000054841" "00054889" "1" "00006" "00006" "2015-12-01 05:01:25" "" "" "SEQ" "DNA" "" "" "0000054842" "00054890" "1" "00006" "00006" "2015-12-01 05:01:25" "" "" "SEQ" "DNA" "" "" "0000054843" "00054891" "1" "00006" "00006" "2015-12-01 05:01:25" "" "" "SEQ" "DNA" "" "" "0000155246" "00154385" "1" "02248" "02248" "2018-02-20 17:55:59" "" "" "SEQ-NG" "DNA" "Whole blood" "" "0000155247" "00154385" "1" "02248" "02248" "2018-02-20 18:57:37" "02248" "2018-02-21 14:46:46" "SEQ-NG" "DNA" "Whole blood" "" "0000292936" "00291768" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292937" "00291769" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292938" "00291770" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305716" "00304587" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000400620" "00399378" "1" "00006" "00006" "2022-01-20 11:47:17" "" "" "SEQ" "DNA" "" "" "0000400621" "00399381" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400623" "00399382" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400624" "00399383" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400625" "00399384" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400626" "00399385" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400627" "00399386" "1" "00006" "00006" "2022-01-20 12:50:11" "" "" "SEQ" "DNA" "" "" "0000400631" "00399389" "1" "00006" "00006" "2022-01-20 13:38:42" "" "" "SEQ" "DNA" "" "" "0000400632" "00399390" "1" "00006" "00006" "2022-01-20 13:40:14" "" "" "SEQ" "DNA" "" "" "0000400633" "00399391" "1" "00006" "00006" "2022-01-20 13:41:37" "" "" "SEQ" "DNA" "" "" "0000400634" "00399392" "1" "00006" "00006" "2022-01-20 13:53:37" "00006" "2022-01-20 13:57:36" "SEQ;SEQ-NG" "DNA" "" "trio-WES" "0000400649" "00399395" "1" "00006" "00006" "2022-01-20 15:01:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000400652" "00399409" "1" "00006" "00006" "2022-01-20 16:30:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400653" "00399410" "1" "00006" "00006" "2022-01-20 16:41:06" "" "" "SEQ" "DNA" "" "" "0000400654" "00399412" "1" "00006" "00006" "2022-01-20 17:00:44" "" "" "SEQ" "DNA" "" "" "0000400655" "00399413" "1" "00006" "00006" "2022-01-20 17:02:55" "" "" "SEQ" "DNA" "" "" "0000400657" "00399414" "1" "00006" "00006" "2022-01-20 17:04:11" "" "" "SEQ" "DNA" "" "" "0000400659" "00399416" "1" "00006" "00006" "2022-01-20 17:10:55" "" "" "SEQ" "DNA" "" "" "0000402443" "00401199" "1" "00006" "00006" "2022-01-28 16:32:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "256-gene panel" "0000402444" "00401200" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402445" "00401201" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402446" "00401202" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402447" "00401203" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402448" "00401204" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402449" "00401205" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402450" "00401206" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" "0000402451" "00401207" "1" "00006" "00006" "2022-01-28 17:16:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000054818" "GOSR2" "0000054833" "COASY" "0000054833" "GOSR2" "0000054833" "KRT16" "0000054834" "GOSR2" "0000054835" "GOSR2" "0000054836" "GOSR2" "0000054837" "GOSR2" "0000054838" "GOSR2" "0000054839" "GOSR2" "0000054840" "GOSR2" "0000054841" "GOSR2" "0000054842" "GOSR2" "0000054843" "GOSR2" "0000155246" "GOSR2" "0000155247" "GOSR2" "0000400620" "GOSR2" "0000400621" "GOSR2" "0000400623" "GOSR2" "0000400624" "GOSR2" "0000400625" "GOSR2" "0000400626" "GOSR2" "0000400627" "GOSR2" "0000400631" "GOSR2" "0000400632" "GOSR2" "0000400633" "GOSR2" "0000400634" "GOSR2" "0000400649" "GOSR2" "0000400653" "GOSR2" "0000400654" "GOSR2" "0000400655" "GOSR2" "0000400657" "GOSR2" "0000400659" "GOSR2" "0000402444" "GOSR2" "0000402445" "GOSR2" "0000402446" "GOSR2" "0000402447" "GOSR2" "0000402448" "GOSR2" "0000402449" "GOSR2" "0000402450" "GOSR2" "0000402451" "GOSR2" ## 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 = 82 "{{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}}" "0000084834" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "01479" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084849" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "homozygosity mapping, 0.3 cM shared ancestral haplotype; not in 584 control chromosomes" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084850" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "1/73 cases" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084851" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "1/73 cases" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084852" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "1/73 cases" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084853" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "1/73 cases" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084854" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "1/73 cases" "{PMID:Corbett 2011:21549339}, {DOI:Corbett 2011:10.1016/j.ajhg.2011.04.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084855" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Van Egmond 2014:}, {DOI:Van Egmond 2014:10.1002/mds.25704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084856" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Van Egmond 2014:}, {DOI:Van Egmond 2014:10.1002/mds.25704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084857" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Van Egmond 2014:}, {DOI:Van Egmond 2014:10.1002/mds.25704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084858" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Van Egmond 2014:}, {DOI:Van Egmond 2014:10.1002/mds.25704}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000084859" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Van Egmond 2014:}, {DOI:Van Egmond 2014:10.1002/mds.25704}, {PMID:van Egmond 2015:30713879}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000251609" "0" "10" "17" "45017781" "45017781" "subst" "0" "02326" "GOSR2_000016" "g.45017781A>G" "" "" "" "GOSR2(NM_004287.4):c.*1655A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46940415A>G" "" "benign" "" "0000252297" "0" "30" "17" "45008390" "45008390" "subst" "0" "02326" "GOSR2_000007" "g.45008390A>T" "" "" "" "GOSR2(NM_004287.4):c.95-75A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931024A>T" "" "likely benign" "" "0000281113" "0" "10" "17" "45000547" "45000547" "subst" "0.989763" "02325" "GOSR2_000004" "g.45000547G>C" "" "" "" "GOSR2(NM_004287.4):c.-12G>C, GOSR2(NM_004287.5):c.-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46923181G>C" "" "benign" "" "0000281114" "0" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "02325" "GOSR2_000001" "g.45012488G>T" "" "" "" "GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000282507" "0" "10" "17" "45041094" "45041094" "subst" "0" "02325" "GOSR2_000022" "g.45041094T>C" "" "" "" "GOSR2(NM_001321133.2):c.584-2806T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46963728T>C" "" "benign" "" "0000284745" "0" "10" "17" "45000547" "45000547" "subst" "0.989763" "02326" "GOSR2_000004" "g.45000547G>C" "" "" "" "GOSR2(NM_004287.4):c.-12G>C, GOSR2(NM_004287.5):c.-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46923181G>C" "" "benign" "" "0000284746" "0" "10" "17" "45000529" "45000529" "subst" "0.396663" "02326" "GOSR2_000003" "g.45000529G>C" "" "" "" "GOSR2(NM_004287.4):c.-30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46923163G>C" "" "benign" "" "0000284748" "0" "30" "17" "45016184" "45016185" "del" "0" "02326" "GOSR2_000013" "g.45016184_45016185del" "" "" "" "GOSR2(NM_004287.4):c.*58_*59delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46938818_46938819del" "" "likely benign" "" "0000284749" "0" "10" "17" "45008570" "45008570" "subst" "0.34626" "02326" "GOSR2_000010" "g.45008570G>A" "" "" "" "GOSR2(NM_004287.4):c.200G>A (p.R67K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931204G>A" "" "benign" "" "0000284750" "0" "30" "17" "45006872" "45006872" "subst" "8.13862E-6" "02326" "GOSR2_000006" "g.45006872T>C" "" "" "" "GOSR2(NM_004287.4):c.30-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46929506T>C" "" "likely benign" "" "0000284751" "0" "10" "17" "45009610" "45009610" "subst" "0.0147473" "02326" "GOSR2_000011" "g.45009610G>T" "" "" "" "GOSR2(NM_004287.4):c.336+45G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46932244G>T" "" "benign" "" "0000284752" "0" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "02326" "GOSR2_000001" "g.45012488G>T" "" "" "" "GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000284753" "0" "30" "17" "45015958" "45015958" "subst" "0" "02326" "GOSR2_000012" "g.45015958G>C" "" "" "" "GOSR2(NM_004287.4):c.478-7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46938592G>C" "" "likely benign" "" "0000284754" "0" "10" "17" "45000565" "45000565" "subst" "0.0225924" "02326" "GOSR2_000005" "g.45000565C>A" "" "" "" "GOSR2(NM_004287.4):c.7C>A (p.P3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46923199C>A" "" "benign" "" "0000284755" "0" "30" "17" "45008450" "45008450" "subst" "0" "02326" "GOSR2_000008" "g.45008450T>C" "" "" "" "GOSR2(NM_004287.4):c.95-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931084T>C" "" "likely benign" "" "0000284756" "0" "30" "17" "45008460" "45008460" "subst" "0" "02326" "GOSR2_000009" "g.45008460T>C" "" "" "" "GOSR2(NM_004287.4):c.95-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931094T>C" "" "likely benign" "" "0000288598" "0" "10" "17" "45008570" "45008570" "subst" "0.34626" "01943" "GOSR2_000010" "g.45008570G>A" "" "" "" "GOSR2(NM_004287.4):c.200G>A (p.R67K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931204G>A" "" "benign" "" "0000288599" "0" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "01943" "GOSR2_000001" "g.45012488G>T" "" "" "" "GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000288600" "0" "30" "17" "45017949" "45017949" "subst" "0.00104055" "01943" "GOSR2_000014" "g.45017949C>T" "" "" "" "GOSR2(NM_054022.3):c.612C>T (p.H204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46940583C>T" "" "likely benign" "" "0000338123" "0" "10" "17" "45000529" "45000529" "subst" "0.396663" "02327" "GOSR2_000003" "g.45000529G>C" "" "" "" "GOSR2(NM_004287.4):c.-30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46923163G>C" "" "benign" "" "0000343253" "0" "10" "17" "45008570" "45008570" "subst" "0.34626" "02327" "GOSR2_000010" "g.45008570G>A" "" "" "" "GOSR2(NM_004287.4):c.200G>A (p.R67K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46931204G>A" "" "benign" "" "0000345729" "0" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "02327" "GOSR2_000001" "g.45012488G>T" "" "" "" "GOSR2(NM_004287.4):c.430G>T (p.G144W), GOSR2(NM_004287.5):c.430G>T (p.G144W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000354733" "21" "70" "17" "45000580" "45000580" "dup" "0" "02248" "GOSR2_000015" "g.45000580dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46923214dup" "" "pathogenic" "" "0000354734" "11" "70" "17" "45012488" "45012488" "subst" "6.09211E-5" "02248" "GOSR2_000001" "g.45012488G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46935122G>T" "" "pathogenic" "" "0000562081" "0" "30" "17" "45000499" "45000499" "dup" "0" "02326" "GOSR2_000017" "g.45000499dup" "" "" "" "GOSR2(NM_004287.4):c.-60dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46923133dup" "" "likely benign" "" "0000562082" "0" "30" "17" "45008286" "45008286" "subst" "0" "02326" "GOSR2_000018" "g.45008286A>G" "" "" "" "GOSR2(NM_004287.4):c.95-179A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46930920A>G" "" "likely benign" "" "0000562083" "0" "50" "17" "45008479" "45008479" "subst" "0" "01943" "GOSR2_000019" "g.45008479A>T" "" "" "" "GOSR2(NM_004287.4):c.109A>T (p.I37F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46931113A>T" "" "VUS" "" "0000562084" "0" "50" "17" "45009442" "45009442" "subst" "0.000365583" "01943" "GOSR2_000020" "g.45009442C>A" "" "" "" "GOSR2(NM_004287.4):c.213C>A (p.D71E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46932076C>A" "" "VUS" "" "0000562085" "0" "50" "17" "45015996" "45015996" "subst" "0.000259926" "01943" "GOSR2_000021" "g.45015996A>G" "" "" "" "GOSR2(NM_004287.4):c.509A>G (p.N170S), GOSR2(NM_004287.5):c.509A>G (p.N170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46938630A>G" "" "VUS" "" "0000562086" "0" "50" "17" "45015996" "45015996" "subst" "0.000259926" "02325" "GOSR2_000021" "g.45015996A>G" "" "" "" "GOSR2(NM_004287.4):c.509A>G (p.N170S), GOSR2(NM_004287.5):c.509A>G (p.N170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46938630A>G" "" "VUS" "" "0000649625" "1" "30" "17" "45000565" "45000565" "subst" "0.0225924" "03575" "GOSR2_000005" "g.45000565C>A" "134/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "134 heterozygous; {DB:CLININrs12944167}" "Germline" "" "rs12944167" "0" "" "" "g.46923199C>A" "" "likely benign" "" "0000649626" "1" "50" "17" "45006896" "45006896" "subst" "0.000488087" "03575" "GOSR2_000023" "g.45006896G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs113817924}" "Germline" "" "rs113817924" "0" "" "" "g.46929530G>A" "" "VUS" "" "0000649627" "1" "50" "17" "45009551" "45009551" "subst" "0.000232045" "03575" "GOSR2_000024" "g.45009551A>C" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138510884}" "Germline" "" "rs138510884" "0" "" "" "g.46932185A>C" "" "VUS" "" "0000669404" "3" "30" "17" "45000565" "45000565" "subst" "0.0225924" "03575" "GOSR2_000005" "g.45000565C>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs12944167}" "Germline" "" "rs12944167" "0" "" "" "g.46923199C>A" "" "likely benign" "" "0000692383" "0" "50" "17" "45017921" "45017921" "subst" "0.000601734" "01943" "GOSR2_000025" "g.45017921G>C" "" "" "" "GOSR2(NM_054022.3):c.584G>C (p.G195A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808056" "0" "50" "17" "45043975" "45043975" "subst" "0" "01943" "GOSR2_000026" "g.45043975G>A" "" "" "" "GOSR2(NM_001321133.1):c.659G>A (p.R220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833575" "1" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Praschberger 2015:30363482}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833576" "2" "70" "17" "45015978" "45015980" "del" "0" "00006" "GOSR2_000027" "g.45015978_45015980del" "" "{PMID:Praschberger 2015:30363482}" "" "491_493delAGA" "" "Germline" "" "" "0" "" "" "g.46938612_46938614del" "" "likely pathogenic (recessive)" "" "0000833577" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833578" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833579" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833580" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833581" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833583" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833586" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Anderson 2016:30838261}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833588" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Anderson 2016:30838261}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833589" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Anderson 2016:30838261}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833590" "1" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Larson 2018:29855340}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000833591" "2" "90" "17" "45000560" "45000560" "subst" "2.0381E-5" "00006" "GOSR2_000028" "g.45000560T>G" "" "{PMID:Larson 2018:29855340}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000833611" "11" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Henige 2021:33639315}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833612" "21" "90" "17" "45006938" "45006938" "subst" "4.06511E-6" "00006" "GOSR2_000029" "g.45006938C>T" "" "{PMID:Henige 2021:33639315}" "" "" "" "Germline" "" "" "0" "" "" "g.46929572C>T" "VCV000983499.1" "likely pathogenic (recessive)" "" "0000833615" "1" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{DOI:Tsai 2013:10.1016/j.nmd.2013.06.404}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833616" "2" "70" "17" "45009566" "45009566" "subst" "8.97058E-5" "00006" "GOSR2_000030" "g.45009566G>A" "" "{DOI:Tsai 2013:10.1016/j.nmd.2013.06.404}" "" "" "" "Germline" "" "" "0" "" "" "g.46932200G>A" "" "likely pathogenic (recessive)" "" "0000833617" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833618" "0" "10" "17" "45000565" "45000565" "subst" "0.0225924" "00006" "GOSR2_000005" "g.45000565C>A" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "rs12944167" "0" "" "" "" "" "benign" "" "0000833619" "0" "10" "17" "45008570" "45008570" "subst" "0.34626" "00006" "GOSR2_000010" "g.45008570G>A" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "rs197922" "0" "" "" "" "" "benign" "" "0000833620" "0" "30" "17" "45017949" "45017949" "subst" "0.00104055" "00006" "GOSR2_000014" "g.45017949C>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "612C>T (H204H)" "" "Germline" "" "" "0" "" "" "g.46940583C>T" "" "likely benign" "" "0000833623" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Boisse Lomax 2013:23449775}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836590" "1" "90" "17" "45009548" "45009548" "subst" "1.22111E-5" "00006" "GOSR2_000031" "g.45009548C>T" "" "{PMID:Stemmerik 2021:34167170}" "" "" "" "Germline" "" "" "0" "" "" "g.46932182C>T" "" "pathogenic (recessive)" "" "0000836591" "2" "70" "17" "45009426" "45009426" "subst" "4.87512E-5" "00006" "GOSR2_000032" "g.45009426A>G" "" "{PMID:Stemmerik 2021:34167170}" "" "" "0.40 abnormally spliced mRNA" "Germline" "" "" "0" "" "" "g.46932060A>G" "" "likely pathogenic (recessive)" "" "0000836592" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836593" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836594" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836595" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836596" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836597" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836598" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000836599" "3" "90" "17" "45012488" "45012488" "subst" "6.09211E-5" "00006" "GOSR2_000001" "g.45012488G>T" "" "{PMID:Polet 2020:32105965}" "" "" "" "Germline" "" "" "0" "" "" "g.46935122G>T" "" "pathogenic (recessive)" "" "0000865333" "0" "90" "17" "45008557" "45008557" "del" "0" "01943" "GOSR2_000033" "g.45008557del" "" "" "" "GOSR2(NM_001321133.1):c.187delA (p.R63Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865334" "0" "50" "17" "45008558" "45008558" "subst" "8.12684E-6" "01943" "GOSR2_000034" "g.45008558G>T" "" "" "" "GOSR2(NM_004287.4):c.188G>T (p.R63M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GOSR2 ## Count = 82 "{{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}}" "0000084834" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084849" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084850" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084851" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084852" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084853" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084854" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084855" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084856" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084857" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084858" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000084859" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000251609" "00023837" "10" "2294" "0" "2294" "0" "c.*1655A>G" "r.(=)" "p.(=)" "" "0000252297" "00023837" "30" "95" "-75" "95" "-75" "c.95-75A>T" "r.(=)" "p.(=)" "" "0000281113" "00023837" "10" "-12" "0" "-12" "0" "c.-12G>C" "r.(?)" "p.(=)" "" "0000281114" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000282507" "00023837" "10" "25607" "0" "25607" "0" "c.*24968T>C" "r.(=)" "p.(=)" "" "0000284745" "00023837" "10" "-12" "0" "-12" "0" "c.-12G>C" "r.(?)" "p.(=)" "" "0000284746" "00023837" "10" "-30" "0" "-30" "0" "c.-30G>C" "r.(?)" "p.(=)" "" "0000284748" "00023837" "30" "697" "0" "698" "0" "c.*58_*59del" "r.(=)" "p.(=)" "" "0000284749" "00023837" "10" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Lys)" "" "0000284750" "00023837" "30" "30" "-14" "30" "-14" "c.30-14T>C" "r.(=)" "p.(=)" "" "0000284751" "00023837" "10" "336" "45" "336" "45" "c.336+45G>T" "r.(=)" "p.(=)" "" "0000284752" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000284753" "00023837" "30" "478" "-7" "478" "-7" "c.478-7G>C" "r.(=)" "p.(=)" "" "0000284754" "00023837" "10" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000284755" "00023837" "30" "95" "-15" "95" "-15" "c.95-15T>C" "r.(=)" "p.(=)" "" "0000284756" "00023837" "30" "95" "-5" "95" "-5" "c.95-5T>C" "r.spl?" "p.?" "" "0000288598" "00023837" "10" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Lys)" "" "0000288599" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000288600" "00023837" "30" "2462" "0" "2462" "0" "c.*1823C>T" "r.(=)" "p.(=)" "" "0000338123" "00023837" "10" "-30" "0" "-30" "0" "c.-30G>C" "r.(?)" "p.(=)" "" "0000343253" "00023837" "10" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Lys)" "" "0000345729" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000354733" "00023837" "70" "22" "0" "22" "0" "c.22dup" "r.(?)" "p.(Thr8Asnfs*54)" "1" "0000354734" "00023837" "70" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "5" "0000562081" "00023837" "30" "-60" "0" "-60" "0" "c.-60dup" "r.(?)" "p.(=)" "" "0000562082" "00023837" "30" "95" "-179" "95" "-179" "c.95-179A>G" "r.(=)" "p.(=)" "" "0000562083" "00023837" "50" "109" "0" "109" "0" "c.109A>T" "r.(?)" "p.(Ile37Phe)" "" "0000562084" "00023837" "50" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Asp71Glu)" "" "0000562085" "00023837" "50" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asn170Ser)" "" "0000562086" "00023837" "50" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Asn170Ser)" "" "0000649625" "00023837" "30" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000649626" "00023837" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Glu14Lys)" "" "0000649627" "00023837" "50" "322" "0" "322" "0" "c.322A>C" "r.(?)" "p.(Thr108Pro)" "" "0000669404" "00023837" "30" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000692383" "00023837" "50" "2434" "0" "2434" "0" "c.*1795G>C" "r.(=)" "p.(=)" "" "0000808056" "00023837" "50" "28488" "0" "28488" "0" "c.*27849G>A" "r.(=)" "p.(=)" "" "0000833575" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833576" "00023837" "70" "491" "0" "493" "0" "c.491_493del" "r.(?)" "p.(Lys164del)" "" "0000833577" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833578" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833579" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833580" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833581" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833583" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833586" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833588" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833589" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833590" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833591" "00023837" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000833611" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833612" "00023837" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" "" "0000833615" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833616" "00023837" "70" "336" "1" "336" "1" "c.336+1G>A" "r.spl" "p.?" "" "0000833617" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000833618" "00023837" "10" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(Pro3Thr)" "" "0000833619" "00023837" "10" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67Lys)" "" "0000833620" "00023837" "30" "2462" "0" "2462" "0" "c.*1823C>T" "r.(?)" "p.(=)" "6" "0000833623" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836590" "00023837" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "" "0000836591" "00023837" "70" "204" "-7" "204" "-7" "c.204-7A>G" "r.[203_204ins204-6_204-1=]" "p.[Leu68_Arg69insSerSer,=]" "3i" "0000836592" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836593" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836594" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836595" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836596" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836597" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836598" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000836599" "00023837" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144Trp)" "" "0000865333" "00023837" "90" "187" "0" "187" "0" "c.187del" "r.(?)" "p.(Arg63Glyfs*11)" "" "0000865334" "00023837" "50" "188" "0" "188" "0" "c.188G>T" "r.(?)" "p.(Arg63Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{variantid}}" "0000054818" "0000084834" "0000054833" "0000084849" "0000054834" "0000084850" "0000054835" "0000084851" "0000054836" "0000084852" "0000054837" "0000084853" "0000054838" "0000084854" "0000054839" "0000084855" "0000054840" "0000084856" "0000054841" "0000084857" "0000054842" "0000084858" "0000054843" "0000084859" "0000155246" "0000354733" "0000155247" "0000354734" "0000292936" "0000649625" "0000292937" "0000649626" "0000292938" "0000649627" "0000305716" "0000669404" "0000400620" "0000833575" "0000400620" "0000833576" "0000400621" "0000833577" "0000400623" "0000833578" "0000400624" "0000833579" "0000400625" "0000833580" "0000400626" "0000833581" "0000400627" "0000833583" "0000400631" "0000833586" "0000400632" "0000833588" "0000400633" "0000833589" "0000400634" "0000833590" "0000400634" "0000833591" "0000400649" "0000833611" "0000400649" "0000833612" "0000400652" "0000833615" "0000400652" "0000833616" "0000400653" "0000833617" "0000400654" "0000833618" "0000400655" "0000833619" "0000400657" "0000833620" "0000400659" "0000833623" "0000402443" "0000836590" "0000402443" "0000836591" "0000402444" "0000836592" "0000402445" "0000836593" "0000402446" "0000836594" "0000402447" "0000836595" "0000402448" "0000836596" "0000402449" "0000836597" "0000402450" "0000836598" "0000402451" "0000836599"