### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAGS) # 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}}" "NAGS" "N-acetylglutamate synthase" "17" "q21.31" "unknown" "NG_008106.1" "UD_132084480364" "" "http://www.LOVD.nl/NAGS" "" "1" "17996" "162417" "608300" "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/NAGS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-29 00:00:00" "00006" "2016-01-28 01:03:58" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014262" "NAGS" "N-acetylglutamate synthase" "001" "NM_153006.2" "" "NP_694551.1" "" "" "" "1" "2072" "1605" "42082032" "42086436" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00124" "MFDGA;MFDM" "dysostosis, mandibulofacial, Guion-Almeida type" "AD" "610536" "" "" "" "00001" "2013-05-02 11:49:16" "00006" "2026-03-17 12:12:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01849" "NAGSD" "deficiency, N-acetylglutamate synthase (NAGSD)" "AR" "237310" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NAGS" "01849" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{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}}" "00001636" "" "" "" "1" "" "00006" "{PMID:Lines 2012:22305528}" "" "F" "no" "" "" "0" "" "" "" "" "00058532" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Switzerland" "" "0" "" "" "" "Fam1a" "00058577" "" "" "" "1" "" "01523" "{PMID:Caldovic 2005:15714518}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "33y" "0" "" "" "" "pat3" "00058578" "" "" "" "1" "" "01523" "{PMID:Schmidt 2005:15878741}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "Fam1" "00058579" "" "" "" "1" "" "01523" "{PMID:Schmidt 2005:15878741}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "Fam1" "00058580" "" "" "" "1" "" "01523" "{PMID:Caldovic 2007:17421020}" "" "" "" "United States" "" "0" "" "" "" "" "00058581" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam5a" "00058582" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam6a" "00058583" "" "" "" "1" "" "01523" "{PMID:Häberle 2003:12754705}, {PMID:Plecko 1998:9877039}" "" "" "" "" "" "0" "" "" "" "" "00058584" "" "" "" "4" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "2-generation family, 4 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "Fam8a" "00058585" "" "" "" "1" "" "01523" "{PMID:Caldovic 2007:17421020}" "" "" "" "United States" "" "0" "" "" "" "" "00058586" "" "" "" "1" "" "01523" "{PMID:Caldovic 2007:17421020}" "" "" "" "United States" "" "0" "" "" "" "" "00058587" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam11a" "00058588" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam12a" "00060216" "" "" "" "2" "" "01523" "{PMID:Schmidt 2005:15878741}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "?" "" "Algeria" "" "0" "" "" "" "Fam2" "00060217" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "?" "" "" "00y00m20d" "0" "" "" "" "Fam14a" "00060218" "" "" "" "2" "" "01523" "{PMID:Nordenstrom 2007:17510757}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "?" "" "Sweden" "" "0" "" "" "" "" "00060219" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "?" "" "" "00y00m05d" "0" "" "" "" "Fam19a" "00060220" "" "" "" "2" "" "01523" "{PMID:Caldovic 2005:15714518}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "" "00060221" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "?" "" "" "" "0" "" "" "" "Fam27a" "00060222" "" "" "" "1" "" "01523" "{PMID:Schmidt 2005:15878741}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "?" "" "Turkey" "" "0" "" "" "" "" "00060223" "" "" "" "1" "" "01523" "{PMID:Schmidt 2005:15878741}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "?" "" "Turkey" "" "0" "" "" "" "Fam5" "00060224" "" "" "" "1" "" "01523" "{PMID:Haberle2004:15164414}" "" "?" "" "Turkey" "00y00m01d" "0" "" "" "" "Fam2" "00060225" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "?" "" "" "00y00m03d" "0" "" "" "" "" "00060226" "" "" "" "1" "" "01523" "{PMID:Häberle 2003:12754705}, {PMID:Häberle 2003:14605506}" "" "?" "" "" "00y00m06d" "0" "" "" "" "" "00060227" "" "" "" "2" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "2-generation family, 2 affected" "?" "" "" "00y00m07d" "0" "" "" "" "Fam35b" "00060228" "" "" "" "2" "" "01523" "{PMID:Elpeleg 2002:12447942}" "2-generation family, affected twin brotehs, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "Jewish" "" "00060229" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "no clinical information" "?" "" "" "" "0" "" "" "" "Fam38b" "00248284" "" "" "" "1" "" "00006" "{PMID:Haberle 2004:15164414}" "prenatal diagnosis, fetus affected" "" "" "Faroe Islands" "" "0" "" "" "" "Fam1" "00248296" "" "" "" "1" "" "00006" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam39b" "00248297" "" "" "" "2" "" "00006" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "Fam40b" "00248298" "" "" "" "1" "" "00006" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam41b" "00248299" "" "" "" "2" "" "01523" "{PMID:Caldovich 2003:12594532}, {OMIM608300:0002}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "" "00248300" "" "" "" "1" "" "01523" "{PMID:Haberle 2003:12754705}, {OMIM608300:0002}" "" "" "" "" "" "0" "" "" "" "" "00248301" "" "" "" "2" "" "01523" "{PMID:Caldovich 2003:12594532}, {OMIM608300:0001}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "" "00248302" "" "" "" "1" "" "01523" "{PMID:Haberle 2003:12754705}, {PMID:Caldovic 2007:17421020}, {OMIM608300:0006}" "" "" "" "" "" "0" "" "" "" "" "00248303" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam17a" "00248304" "" "" "" "1" "" "01523" "{PMID:Haberle 2003:12754705}, {PMID:Caldovic 2007:17421020}, {OMIM608300:0008}" "" "" "" "" "" "0" "" "" "" "" "00248305" "" "" "" "3" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "2-generation family, 3 affected" "" "" "" "" "0" "" "" "" "Fam20a" "00248306" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam21a" "00248307" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam22a" "00248308" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam23a" "00248309" "" "" "" "1" "" "01523" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "" "" "0" "" "" "" "Fam24a" "00248310" "" "" "" "1" "" "01523" "{PMID:Van Leynseele 2014:24233332}" "" "" "" "Belgium" "" "0" "" "" "" "" "00248312" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248313" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248314" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248315" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248316" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248317" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248318" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00248319" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "analysis 47 normal individuals" "" "" "United States" "" "0" "" "" "" "" "00450349" "" "" "" "1" "" "00006" "{PMID:Belanger-Quintana 2003:12942317}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Spain" "" "0" "" "" "" "?;Pat93" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00001636" "00124" "00058532" "01849" "00058577" "01849" "00058578" "01849" "00058579" "01849" "00058580" "01849" "00058581" "01849" "00058582" "01849" "00058583" "01849" "00058584" "01849" "00058585" "01849" "00058586" "01849" "00058587" "01849" "00058588" "01849" "00060216" "01849" "00060217" "01849" "00060218" "01849" "00060219" "01849" "00060220" "01849" "00060221" "01849" "00060222" "01849" "00060223" "01849" "00060224" "01849" "00060225" "01849" "00060226" "01849" "00060227" "01849" "00060228" "01849" "00060229" "01849" "00248284" "01849" "00248296" "01849" "00248297" "01849" "00248298" "01849" "00248299" "01849" "00248300" "01849" "00248301" "01849" "00248302" "01849" "00248303" "01849" "00248304" "01849" "00248305" "01849" "00248306" "01849" "00248307" "01849" "00248308" "01849" "00248309" "01849" "00248310" "01849" "00248312" "00000" "00248313" "00000" "00248314" "00000" "00248315" "00000" "00248316" "00000" "00248317" "00000" "00248318" "00000" "00248319" "00000" "00450349" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00124, 00198, 01849 ## Count = 44 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{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}}" "0000000803" "00124" "00001636" "00076" "Isolated (sporadic)" "" "IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures" "" "40w; weight 2610 (-2)" "87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)" "" "" "" "" "" "" "" "MFDGA" "" "" "0000045124" "01849" "00058532" "01523" "Unknown" "" "vomiting, poor feeding, episodic confusion as neonate" "" "" "" "00y06m" "" "" "" "" "" "" "" "" "" "0000045172" "01849" "00058577" "01523" "Unknown" "33y" "transient coma at y5" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045173" "01849" "00058578" "01523" "Unknown" "" "hypotonia at 2.5m, later hepatomegaly, failure to thrive, hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045174" "01849" "00058579" "01523" "Unknown" "" "hypotonia, developmental delay" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "0000045175" "01849" "00058580" "01523" "Unknown" "" "heterozygous mutation reported in a control sample. No further information" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045176" "01849" "00058581" "01523" "Unknown" "" "neonatal hyperammonemia" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "0000045177" "01849" "00058582" "01523" "Unknown" "" "vomitting, failure to thrive, hepatomegaly, recurrent asymptomatic hyperammonemia, normal at y5 with benzoate, citrulline and protein restriction" "00y00m20d" "" "" "" "" "" "" "" "" "" "" "" "" "0000045178" "01849" "00058583" "01523" "Unknown" "" "vomitting, hypotonia, somnolence\r\nat 24y normal cognitive function\r\nNCG-treated" "00y13m" "" "" "" "" "" "" "" "" "" "" "" "" "0000045179" "01849" "00058584" "01523" "Unknown" "" "late-onset and mild course\r\nNormal outcome without NCG" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045180" "01849" "00058585" "01523" "Unknown" "" "onset at y27, during pregnancy, with seizures and coma" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "0000045181" "01849" "00058586" "01523" "Unknown" "" "late-onset with migraine, nausea, vomitting, lethargy, ataxia and coma\r\nnormal at 57y" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000045182" "01849" "00058587" "01523" "Unknown" "" "severe hyperammonemia\r\nstable at 6m with NCG treatment, death after stopping NCG\r\n\r\nelder brother died at 2y (no material or diagnosis)" "00y02m" "" "" "" "" "" "" "" "" "" "" "" "" "0000045183" "01849" "00058588" "01523" "Unknown" "" "UTI, somnolence, decreased conscience, peak ammonia 350 umol/l\r\nnormal outcome" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000046706" "01849" "00060216" "01523" "Unknown" "" "poor feeding, seizures, lethargy\r\nyounger sibling: NCG-treated before symptoms developed" "00y00m02d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046707" "01849" "00060217" "01523" "Unknown" "" "vomiting, lethargy, no NCG" "00y00m03d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046708" "01849" "00060218" "01523" "Unknown" "" "poor feeding, somnolence, seizures, normal psychomotor development at 2.5y\r\nyounger sibling: NCG-treated before symptoms developed" "00y00m02d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046709" "01849" "00060219" "01523" "Unknown" "" "neonatal onset\r\ndied at d5 with hyperammonemia" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046710" "01849" "00060220" "01523" "Unknown" "" "vomiting, irritability, lethargy, many hyperammonemic episodes, normal cognitive development\r\nSibling: onset at 9y, lethargy, anorexia, vomiting, seizures" "00y01m" "" "" "18y" "" "" "" "" "" "" "" "" "" "0000046711" "01849" "00060221" "01523" "Unknown" "" "Reye-like syndrome at 16y with hyperammonemia\r\nnormal outcome" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046712" "01849" "00060222" "01523" "Unknown" "" "hypotonia, poor feeding, lethargy" "00y00m02d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046713" "01849" "00060223" "01523" "Unknown" "" "convulsions and microcephaly at 4y" "" "" "" "04y" "" "" "" "" "" "" "" "" "" "0000046714" "01849" "00060224" "01523" "Unknown" "" "neonatal death with hyperammonemic coma" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046715" "01849" "00060225" "01523" "Unknown" "" "hyperammonemic coma" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046716" "01849" "00060226" "01523" "Unknown" "" "hyperammonemic encephalopathy" "00y00m03d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046717" "01849" "00060227" "01523" "Unknown" "" "hyperammonemic coma, death on 7d\r\nsibling: neonatal onset, hyperammonemic coma, death on 19d" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "0000046718" "01849" "00060228" "01523" "Unknown" "" "treated but unstable until NCG started at 36m, suffers neurological sequelae\r\nSibling: prospective treatment from birth, but NCG only started at 3m, suffers neurological sequelae" "00y00m04d" "" "" "" "" "" "" "" "" "" "" "" "" "0000187293" "01849" "00248284" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "NAGSD" "NAGS deficiency" "" "0000187305" "01849" "00248296" "00006" "Familial, autosomal recessive" "" "2d-hyperammonemia requiring dialysis; alive under treatment including NCG" "00y00m02d" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187306" "01849" "00248297" "00006" "Familial, autosomal recessive" "" "Index: 2d-vomiting, feeding problems, hyperammonemia was diagnosed and treated with\r\nhemodiafiltration; 1y-normal development under treatment with NCG\r\nElder sibling: onset first few days, death in early neonatal period, no ammoniameasurements done" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187307" "01849" "00248298" "00006" "Unknown" "" "neonatal onset with hyperammonemia (max. 368 μmol/L), metabolically stable with NCG" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187308" "01849" "00248299" "01523" "Familial, autosomal recessive" "" "Index: 4d-onset; 22d-death hyperammonemic encephalopathy: Sibling: 2d-onset, treated but unstable until NCG started at 3m; 13y-normal neurological status" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187309" "01849" "00248300" "01523" "Familial, autosomal recessive" "" "1d-onset; 4d-death" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187310" "01849" "00248301" "01523" "Familial, autosomal recessive" "" "Index: 2d-onset; 8m-liver transplantation, no information on neurological status: Sibling: 2d-onset" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187311" "01849" "00248302" "01523" "Familial, autosomal recessive" "" "2d-onset, hyperammonemic encephalopathy; 4d-death with cerebral edema" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187312" "01849" "00248303" "01523" "Familial, autosomal recessive" "" "neonatal onset" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187313" "01849" "00248304" "01523" "Familial, autosomal recessive" "" "6d-onset, poor feeding, lethargy; 3m-death" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187314" "01849" "00248305" "01523" "Familial, autosomal recessive" "" "Index: 3d-onset hyperammonemic coma; 6m-death: Sibling and relative: genetic demonstration and NCG treated before symptoms developed" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187315" "01849" "00248306" "01523" "Familial, autosomal recessive" "" "2d-onset, poor feeding, seizures; psychomotor delay and spasticity, NCG treatment" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187316" "01849" "00248307" "01523" "Familial, autosomal recessive" "" "neonatal onset with hyperammonemia" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187317" "01849" "00248308" "01523" "Familial, autosomal recessive" "" "3d-onset, standard treatment for hyperammonemia without NCG; 22m-alive while treated" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187318" "01849" "00248309" "01523" "Familial, autosomal recessive" "" "neonatal onset with hyperammonemia" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000187319" "01849" "00248310" "01523" "Familial, autosomal recessive" "" "1m-hyperammonemia; 22m-diagnosed while under treatment with diet and NCG" "" "" "" "" "" "" "" "" "" "" "NAGSD" "" "" "0000339410" "00198" "00450349" "00006" "Familial, autosomal recessive" "" "see paper; ..., late onset, no neurologic damage" "" "" "" "" "" "" "" "" "" "" "NAGSD" "urea cycle disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001436" "00001636" "1" "00006" "00006" "2013-07-28 14:59:43" "" "" "arrayCNV" "DNA" "" "" "0000058495" "00058532" "1" "01523" "00006" "2016-01-28 00:56:41" "00006" "2016-01-28 01:01:27" "DSCA;SEQ" "DNA" "" "" "0000058540" "00058577" "1" "01523" "01523" "2016-02-01 11:36:42" "" "" "SEQ" "DNA" "" "" "0000058541" "00058578" "1" "01523" "01523" "2016-02-01 15:48:13" "" "" "SEQ" "DNA" "" "" "0000058542" "00058579" "1" "01523" "01523" "2016-02-01 15:52:37" "" "" "SEQ" "DNA" "" "" "0000058543" "00058580" "1" "01523" "01523" "2016-02-01 15:59:12" "" "" "SEQ" "DNA" "" "" "0000058544" "00058581" "1" "01523" "01523" "2016-02-01 16:02:38" "" "" "SEQ" "DNA" "" "" "0000058545" "00058582" "1" "01523" "01523" "2016-02-01 16:06:58" "" "" "SEQ" "DNA" "" "" "0000058546" "00058583" "1" "01523" "01523" "2016-02-01 16:10:33" "" "" "SEQ" "DNA" "" "" "0000058547" "00058584" "1" "01523" "01523" "2016-02-01 16:13:33" "" "" "SEQ" "DNA" "" "" "0000058548" "00058585" "1" "01523" "01523" "2016-02-01 16:16:54" "" "" "SEQ" "DNA" "" "" "0000058549" "00058586" "1" "01523" "01523" "2016-02-01 16:21:05" "" "" "SEQ" "DNA" "" "" "0000058550" "00058587" "1" "01523" "01523" "2016-02-01 16:25:40" "" "" "SEQ" "DNA" "" "" "0000058551" "00058588" "1" "01523" "01523" "2016-02-01 16:29:55" "" "" "SEQ" "DNA" "" "" "0000060203" "00060216" "1" "01523" "01523" "2016-03-11 14:58:27" "" "" "SEQ" "DNA" "" "" "0000060204" "00060217" "1" "01523" "01523" "2016-03-11 15:06:28" "" "" "SEQ" "DNA" "" "" "0000060205" "00060218" "1" "01523" "01523" "2016-03-11 15:11:51" "" "" "SEQ" "DNA" "" "" "0000060206" "00060219" "1" "01523" "01523" "2016-03-11 15:25:26" "" "" "SEQ" "DNA" "" "" "0000060207" "00060220" "1" "01523" "01523" "2016-03-11 15:36:38" "" "" "SEQ" "DNA" "" "" "0000060208" "00060221" "1" "01523" "01523" "2016-03-11 15:42:42" "" "" "SBE" "DNA" "" "" "0000060209" "00060222" "1" "01523" "01523" "2016-03-11 15:52:36" "" "" "SEQ" "DNA" "" "" "0000060210" "00060223" "1" "01523" "01523" "2016-03-11 15:55:52" "" "" "SEQ" "DNA" "" "" "0000060211" "00060224" "1" "01523" "01523" "2016-03-11 16:01:23" "" "" "SEQ" "DNA" "" "" "0000060212" "00060225" "1" "01523" "01523" "2016-03-11 16:06:08" "" "" "SEQ" "DNA" "" "" "0000060213" "00060226" "1" "01523" "01523" "2016-03-11 16:11:22" "" "" "SEQ" "DNA" "" "" "0000060214" "00060227" "1" "01523" "01523" "2016-03-11 16:18:50" "" "" "SEQ" "DNA" "" "" "0000060215" "00060228" "1" "01523" "01523" "2016-03-11 16:23:31" "" "" "SEQ" "DNA" "" "" "0000060216" "00060229" "1" "01523" "01523" "2016-03-11 16:26:43" "" "" "SEQ" "DNA" "" "" "0000249389" "00248284" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000249401" "00248296" "1" "00006" "00006" "2019-07-21 11:55:36" "" "" "SEQ" "DNA" "" "" "0000249402" "00248297" "1" "00006" "00006" "2019-07-21 11:59:04" "" "" "SEQ" "DNA" "" "" "0000249403" "00248298" "1" "00006" "00006" "2019-07-21 12:04:19" "00006" "2019-07-21 12:08:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000249404" "00248299" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249405" "00248300" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249406" "00248301" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249407" "00248302" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249408" "00248303" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249409" "00248304" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249410" "00248305" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249411" "00248306" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249412" "00248307" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249413" "00248308" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249414" "00248309" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249415" "00248310" "1" "01523" "01523" "2016-02-01 11:59:30" "" "" "SEQ" "DNA" "" "" "0000249417" "00248312" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249418" "00248313" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249419" "00248314" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249420" "00248315" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249421" "00248316" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249422" "00248317" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249423" "00248318" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000249424" "00248319" "1" "00006" "00006" "2009-04-03 19:07:14" "00006" "2019-07-19 17:04:09" "SEQ;SSCA" "DNA" "" "" "0000451946" "00450349" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 52 "{{screeningid}}" "{{geneid}}" "0000058495" "NAGS" "0000058540" "NAGS" "0000058541" "NAGS" "0000058542" "NAGS" "0000058543" "NAGS" "0000058544" "NAGS" "0000058545" "NAGS" "0000058546" "NAGS" "0000058547" "NAGS" "0000058548" "NAGS" "0000058549" "NAGS" "0000058550" "NAGS" "0000058551" "NAGS" "0000060203" "NAGS" "0000060204" "NAGS" "0000060205" "NAGS" "0000060206" "NAGS" "0000060207" "NAGS" "0000060208" "NAGS" "0000060209" "NAGS" "0000060210" "NAGS" "0000060211" "NAGS" "0000060212" "NAGS" "0000060213" "NAGS" "0000060214" "NAGS" "0000060215" "NAGS" "0000060216" "NAGS" "0000249389" "NAGS" "0000249401" "NAGS" "0000249402" "NAGS" "0000249403" "NAGS" "0000249404" "NAGS" "0000249405" "NAGS" "0000249406" "NAGS" "0000249407" "NAGS" "0000249408" "NAGS" "0000249409" "NAGS" "0000249410" "NAGS" "0000249411" "NAGS" "0000249412" "NAGS" "0000249413" "NAGS" "0000249414" "NAGS" "0000249415" "NAGS" "0000249417" "NAGS" "0000249418" "NAGS" "0000249419" "NAGS" "0000249420" "NAGS" "0000249421" "NAGS" "0000249422" "NAGS" "0000249423" "NAGS" "0000249424" "NAGS" "0000451946" "NAGS" ## 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 = 86 "{{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}}" "0000019226" "0" "50" "17" "41993587" "42253276" "dup" "0" "00006" "ASB16_000001" "g.41993587_42253276dup" "" "" "" "" "array 41993587–42253276x3" "Unknown" "" "" "0" "" "" "g.43916219_44175908dup" "" "VUS" "" "0000089077" "1" "90" "17" "42082309" "42082309" "del" "0" "01523" "NAGS_000021" "g.42082309del" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44004941del" "" "pathogenic (recessive)" "" "0000089078" "0" "50" "17" "42083077" "42083077" "subst" "1.37888E-5" "01523" "NAGS_000020" "g.42083077A>G" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Unknown" "" "" "0" "" "" "g.44005709A>G" "" "VUS" "" "0000089126" "1" "90" "17" "42083096" "42083096" "subst" "0" "01523" "NAGS_000022" "g.42083096T>A" "" "{PMID:Caldovic 2005:15714518}" "" "" "" "Germline" "" "" "0" "" "" "g.44005728T>A" "" "pathogenic" "" "0000089127" "2" "90" "17" "42084982" "42084982" "subst" "0" "01523" "NAGS_000023" "g.42084982C>T" "" "{PMID:Caldovic 2005:15714518}" "" "" "" "Germline" "" "" "0" "" "" "g.44007614C>T" "" "pathogenic" "" "0000089128" "3" "50" "17" "42083176" "42083176" "subst" "0" "01523" "NAGS_000024" "g.42083176T>C" "" "{PMID:Schmidt 2005:15878741}" "" "" "" "Unknown" "" "" "0" "" "" "g.44005808T>C" "" "VUS" "" "0000089129" "3" "50" "17" "42083176" "42083176" "subst" "0" "01523" "NAGS_000024" "g.42083176T>C" "" "{PMID:Schmidt 2005:15878741}" "" "" "" "Unknown" "" "" "0" "" "" "g.44005808T>C" "" "VUS" "" "0000089130" "3" "50" "17" "42083396" "42083396" "subst" "4.64658E-6" "01523" "NAGS_000043" "g.42083396G>T" "" "{PMID:Caldovic 2007:17421020}" "" "" "" "Unknown" "" "" "0" "" "" "g.44006028G>T" "" "VUS" "" "0000089131" "3" "50" "17" "42083469" "42083469" "subst" "0" "01523" "NAGS_000044" "g.42083469C>T" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44006101C>T" "" "VUS" "" "0000089132" "3" "50" "17" "42083481" "42083481" "subst" "0" "01523" "NAGS_000045" "g.42083481C>T" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44006113C>T" "" "VUS" "" "0000089133" "3" "50" "17" "42083525" "42083525" "subst" "0" "01523" "NAGS_000013" "g.42083525G>A" "" "{PMID:Häberle 2003:12754705}, {PMID:Plecko 1998:9877039}" "" "" "" "Germline" "" "" "0" "" "" "g.44006157G>A" "" "VUS" "" "0000089134" "3" "50" "17" "42083562" "42083562" "subst" "0" "01523" "NAGS_000030" "g.42083562T>A" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44006194T>A" "" "VUS" "" "0000089135" "0" "50" "17" "42083916" "42083916" "subst" "0" "01523" "NAGS_000031" "g.42083916T>C" "" "{PMID:Caldovic 2007:17421020}" "" "" "" "Unknown" "" "" "0" "" "" "g.44006548T>C" "" "VUS" "" "0000089136" "0" "50" "17" "42084982" "42084982" "subst" "0" "01523" "NAGS_000023" "g.42084982C>T" "" "{PMID:Caldovic 2007:17421020}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007614C>T" "" "VUS" "" "0000089137" "0" "50" "17" "42084029" "42084029" "subst" "0" "01523" "NAGS_000034" "g.42084029G>A" "" "{PMID:Caldovic 2007:17421020}" "" "1050G>A (V350I)" "" "Unknown" "" "" "0" "" "" "g.44006661G>A" "" "VUS" "" "0000089138" "0" "50" "17" "42085014" "42085014" "subst" "1.35432E-5" "01523" "NAGS_000026" "g.42085014C>G" "" "{PMID:Caldovic 2007:17421020}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007646C>G" "" "VUS" "" "0000089139" "0" "50" "17" "42084766" "42084766" "subst" "0" "01523" "NAGS_000036" "g.42084766T>G" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007398T>G" "" "VUS" "" "0000089140" "0" "50" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "VUS" "" "0000089141" "0" "50" "17" "42084786" "42084786" "subst" "4.07216E-6" "01523" "NAGS_000037" "g.42084786A>T" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "no variant 2n allele found" "Unknown" "" "" "0" "" "" "g.44007418A>T" "" "VUS" "" "0000091180" "3" "90" "17" "42084822" "42084822" "subst" "0" "01523" "NAGS_000038" "g.42084822T>C" "" "{PMID:Schmidt 2005:15878741}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007454T>C" "" "pathogenic" "" "0000091181" "3" "90" "17" "42084822" "42084822" "subst" "0" "01523" "NAGS_000038" "g.42084822T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44007454T>C" "" "pathogenic (recessive)" "" "0000091182" "3" "90" "17" "42084835" "42084835" "subst" "0" "01523" "NAGS_000039" "g.42084835G>C" "" "{PMID:Nordenstrom 2007:17510757}" "" "" "" "Unknown" "" "" "0" "" "" "g.44007467G>C" "" "pathogenic" "" "0000091183" "3" "70" "17" "42085060" "42085060" "subst" "0" "01523" "NAGS_000027" "g.42085060G>A" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44007692G>A" "" "likely pathogenic" "" "0000091184" "11" "70" "17" "42085890" "42085890" "subst" "1.62422E-5" "01523" "NAGS_000028" "g.42085890G>A" "" "{PMID:Caldovic 2005:15714518}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44008522G>A" "" "pathogenic (recessive)" "" "0000091185" "21" "70" "17" "42084690" "42084690" "subst" "0" "01523" "NAGS_000035" "g.42084690G>C" "" "{PMID:Caldovic 2005:15714518}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44007322G>C" "" "pathogenic (recessive)" "" "0000091186" "1" "70" "17" "42085899" "42085899" "subst" "4.46661E-5" "01523" "NAGS_000029" "g.42085899A>G" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "no variant 2nd allele found" "Unknown" "" "" "0" "" "" "g.44008531A>G" "" "likely pathogenic" "" "0000091187" "3" "90" "17" "42085916" "42085916" "subst" "1.62423E-5" "01523" "NAGS_000025" "g.42085916G>A" "" "{PMID:Schmidt 2005:15878741}" "" "" "" "Germline" "" "" "0" "" "" "g.44008548G>A" "" "pathogenic (recessive)" "" "0000091188" "3" "90" "17" "42085916" "42085916" "subst" "1.62423E-5" "01523" "NAGS_000025" "g.42085916G>A" "" "{PMID:Schmidt 2005:15878741}" "" "" "" "Germline" "" "" "0" "" "" "g.44008548G>A" "" "pathogenic (recessive)" "" "0000091189" "3" "90" "17" "42083123" "42083123" "del" "0" "01523" "NAGS_000042" "g.42083123del" "" "{PMID:Haberle 2004:15164414}" "" "545delC" "" "Germline" "" "" "0" "" "" "g.44005755del" "" "pathogenic (recessive)" "" "0000091190" "3" "90" "17" "42083123" "42083123" "del" "0" "01523" "NAGS_000042" "g.42083123del" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44005755del" "" "pathogenic (recessive)" "" "0000091191" "1" "90" "17" "42083895" "42083895" "subst" "0" "01523" "NAGS_000011" "g.42083895A>T" "" "{PMID:Häberle 2003:12754705}, {PMID:Häberle 2003:14605506}" "" "" "" "Germline" "" "" "0" "" "" "g.44006527A>T" "" "pathogenic (recessive)" "" "0000091192" "2" "90" "17" "42084997" "42084997" "dup" "0" "01523" "NAGS_000041" "g.42084997dup" "" "{PMID:Häberle 2003:12754705}, {PMID:Häberle 2003:14605506}" "" "" "" "Germline" "" "" "0" "" "" "g.44007629dup" "" "pathogenic (recessive)" "" "0000091193" "3" "90" "17" "42083972" "42083972" "subst" "0" "01523" "NAGS_000032" "g.42083972C>T" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44006604C>T" "" "pathogenic (recessive)" "" "0000091194" "3" "90" "17" "42084017" "42084017" "dup" "0" "01523" "NAGS_000033" "g.42084017dup" "" "{PMID:Elpeleg 2002:12447942}" "" "1036insC" "" "Germline" "" "" "0" "" "" "g.44006649dup" "" "pathogenic" "" "0000091195" "3" "90" "17" "42084858" "42084858" "subst" "4.09356E-6" "01523" "NAGS_000040" "g.42084858G>T" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44007490G>T" "" "pathogenic (recessive)" "" "0000292986" "0" "10" "17" "42085972" "42085972" "subst" "0.56234" "02330" "NAGS_000008" "g.42085972C>T" "" "" "" "NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44008604C>T" "" "benign" "" "0000292987" "0" "10" "17" "42084097" "42084097" "subst" "0.309132" "02330" "NAGS_000005" "g.42084097C>G" "" "" "" "NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44006729C>G" "" "benign" "" "0000292988" "0" "10" "17" "42085136" "42085136" "subst" "0" "02330" "NAGS_000048" "g.42085136T>C" "" "" "" "NAGS(NM_153006.3):c.1446T>C (p.N482=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44007768T>C" "" "benign" "" "0000292989" "0" "10" "17" "42085150" "42085150" "subst" "0.95269" "02330" "NAGS_000007" "g.42085150T>C" "" "" "" "NAGS(NM_153006.2):c.1451+9T>C, NAGS(NM_153006.3):c.1451+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44007782T>C" "" "benign" "" "0000296308" "0" "10" "17" "42085972" "42085972" "subst" "0.56234" "02325" "NAGS_000008" "g.42085972C>T" "" "" "" "NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44008604C>T" "" "benign" "" "0000296309" "0" "10" "17" "42084097" "42084097" "subst" "0.309132" "02325" "NAGS_000005" "g.42084097C>G" "" "" "" "NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44006729C>G" "" "benign" "" "0000302870" "0" "10" "17" "42085972" "42085972" "subst" "0.56234" "01943" "NAGS_000008" "g.42085972C>T" "" "" "" "NAGS(NM_153006.2):c.*3C>T, NAGS(NM_153006.3):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44008604C>T" "" "benign" "" "0000302871" "0" "10" "17" "42084097" "42084097" "subst" "0.309132" "01943" "NAGS_000005" "g.42084097C>G" "" "" "" "NAGS(NM_153006.2):c.1096+20C>G, NAGS(NM_153006.3):c.1096+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44006729C>G" "" "benign" "" "0000302872" "0" "10" "17" "42085150" "42085150" "subst" "0.95269" "01943" "NAGS_000007" "g.42085150T>C" "" "" "" "NAGS(NM_153006.2):c.1451+9T>C, NAGS(NM_153006.3):c.1451+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44007782T>C" "" "benign" "" "0000302873" "0" "30" "17" "42083634" "42083634" "subst" "0.00914688" "01943" "NAGS_000047" "g.42083634C>T" "" "" "" "NAGS(NM_153006.2):c.915+29C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44006266C>T" "" "likely benign" "" "0000316667" "0" "50" "17" "42089384" "42089384" "subst" "2.8428E-5" "01943" "TMEM101_000001" "g.42089384C>T" "" "" "" "TMEM101(NM_032376.4):c.686G>A (p.R229Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44012016C>T" "" "VUS" "" "0000349814" "0" "90" "17" "42085858" "42085858" "subst" "0" "02327" "NAGS_000049" "g.42085858G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44008490G>A" "" "pathogenic" "" "0000561878" "0" "10" "17" "42082213" "42082213" "subst" "0.00202474" "02330" "NAGS_000046" "g.42082213A>G" "" "" "" "NAGS(NM_153006.3):c.182A>G (p.E61G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44004845A>G" "" "benign" "" "0000561879" "0" "10" "17" "42082476" "42082476" "subst" "0.00112966" "02330" "NAGS_000052" "g.42082476G>A" "" "" "" "NAGS(NM_153006.3):c.426+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44005108G>A" "" "benign" "" "0000561880" "0" "30" "17" "42083150" "42083150" "subst" "0" "01804" "NAGS_000053" "g.42083150A>G" "" "" "" "NAGS(NM_153006.2):c.572A>G (p.(Glu191Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44005782A>G" "" "likely benign" "" "0000561881" "0" "10" "17" "42084067" "42084067" "subst" "0.158385" "02330" "NAGS_000004" "g.42084067T>C" "" "" "" "NAGS(NM_153006.2):c.1086T>C (p.F362=), NAGS(NM_153006.3):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44006699T>C" "" "benign" "" "0000561882" "0" "10" "17" "42084067" "42084067" "subst" "0.158385" "01943" "NAGS_000004" "g.42084067T>C" "" "" "" "NAGS(NM_153006.2):c.1086T>C (p.F362=), NAGS(NM_153006.3):c.1086T>C (p.F362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44006699T>C" "" "benign" "" "0000578161" "3" "90" "17" "42083952" "42083952" "subst" "0" "00006" "NAGS_000010" "g.42083952G>A" "" "{PMID:Haberle 2004:15164414}" "" "W324X" "" "Germline" "" "" "0" "" "" "g.44006584G>A" "" "pathogenic (recessive)" "" "0000578177" "3" "90" "17" "42085003" "42085003" "dup" "0" "00006" "NAGS_000050" "g.42085003dup" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "" "Germline" "" "" "0" "" "" "g.44007635dup" "" "pathogenic (recessive)" "" "0000578178" "3" "90" "17" "42085003" "42085003" "del" "0" "00006" "NAGS_000051" "g.42085003del" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "1313delG" "" "Germline" "" "" "0" "" "" "g.44007635del" "" "pathogenic (recessive)" "" "0000578179" "11" "90" "17" "42085858" "42085858" "subst" "0" "00006" "NAGS_000049" "g.42085858G>A" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "no variant 2nd allele identified" "Germline" "" "" "0" "" "" "g.44008490G>A" "" "pathogenic (recessive)" "" "0000578180" "3" "90" "17" "42083952" "42083952" "subst" "0" "01523" "NAGS_000010" "g.42083952G>A" "" "{PMID:Caldovich 2003:12594532}, {OMIM608300:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.44006584G>A" "" "pathogenic (recessive)" "" "0000578181" "3" "90" "17" "42083952" "42083952" "subst" "0" "01523" "NAGS_000010" "g.42083952G>A" "" "{PMID:Haberle 2003:12754705}, {OMIM608300:0002}" "" "" "" "Unknown" "" "" "0" "" "" "g.44006584G>A" "" "pathogenic (recessive)" "" "0000578182" "3" "90" "17" "42084006" "42084006" "del" "0" "01523" "NAGS_000009" "g.42084006del" "" "{PMID:Caldovich 2003:12594532}, {OMIM608300:0001}" "" "1025delG" "" "Unknown" "" "" "0" "" "" "g.44006638del" "" "pathogenic (recessive)" "" "0000578183" "3" "90" "17" "42084979" "42084979" "subst" "0" "01523" "NAGS_000014" "g.42084979T>C" "" "{PMID:Haberle 2003:12754705}, {PMID:Caldovic 2007:17421020}, {OMIM608300:0006}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007611T>C" "" "pathogenic (recessive)" "" "0000578184" "3" "90" "17" "42084979" "42084979" "subst" "0" "01523" "NAGS_000014" "g.42084979T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007611T>C" "" "pathogenic (recessive)" "" "0000578185" "3" "90" "17" "42084989" "42084989" "subst" "0" "01523" "NAGS_000016" "g.42084989G>C" "" "{PMID:Haberle 2003:12754705}, {PMID:Caldovic 2007:17421020}, {OMIM608300:0008}" "" "" "corrected from Glu433Ser" "Unknown" "" "" "0" "" "" "g.44007621G>C" "" "pathogenic (recessive)" "" "0000578186" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578187" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578188" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578189" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578190" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Sancho-Vaello 2016:27037498}, {DOI:Sancho-Vaello 2016:10.1002/humu.22995}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578191" "3" "90" "17" "42085140" "42085140" "subst" "0" "01523" "NAGS_000015" "g.42085140T>C" "" "{PMID:Van Leynseele 2014:24233332}" "" "" "5% residual enzyme activity" "Unknown" "" "" "0" "" "" "g.44007772T>C" "" "pathogenic (recessive)" "" "0000578192" "0" "90" "17" "42078968" "42078968" "subst" "0" "01527" "NAGS_000019" "g.42078968C>A" "" "" "" "c.-3064C>A" "functional assays demonstrate that this variant decreases both transcription and binding of HNF-1, a known NAGS transcription factor, to the NAGS gene; not in 1086 controls" "In vitro (cloned)" "" "" "0" "" "" "g.44001600C>A" "" "NA" "" "0000578193" "1" "10" "17" "42082086" "42082086" "subst" "0" "00006" "NAGS_000002" "g.42082086C>T" "0.005" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.44004718C>T" "" "benign" "" "0000578194" "1" "10" "17" "42082405" "42082405" "subst" "0.00272682" "00006" "NAGS_000001" "g.42082405C>A" "0.01" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.44005037C>A" "" "benign" "" "0000578195" "1" "10" "17" "42083840" "42083840" "subst" "0" "00006" "NAGS_000003" "g.42083840C>T" "0.01" "{PMID:Mitchell 2009:18666241}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs228770" "0" "" "" "g.44006472C>T" "" "benign" "" "0000578196" "1" "10" "17" "42084067" "42084067" "subst" "0.158385" "00006" "NAGS_000004" "g.42084067T>C" "0.005" "{PMID:Mitchell 2009:18666241}" "" "Phe362Phe" "" "Germline" "" "" "0" "" "" "g.44006699T>C" "" "benign" "" "0000578197" "1" "10" "17" "42084097" "42084097" "subst" "0.309132" "00006" "NAGS_000005" "g.42084097C>G" "0.44" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs228771" "0" "" "" "g.44006729C>G" "" "benign" "" "0000578198" "1" "10" "17" "42085150" "42085150" "subst" "0.95269" "00006" "NAGS_000007" "g.42085150T>C" "0.036" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs228773" "0" "" "" "g.44007782T>C" "" "benign" "" "0000578199" "1" "10" "17" "42085151" "42085151" "subst" "0" "00006" "NAGS_000006" "g.42085151G>A" "0.09" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.44007783G>A" "" "benign" "" "0000578200" "1" "10" "17" "42085972" "42085972" "subst" "0.56234" "00006" "NAGS_000008" "g.42085972C>T" "0.25" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs186636" "0" "" "" "g.44008604C>T" "" "benign" "" "0000726441" "0" "90" "17" "42085003" "42085003" "del" "0" "01943" "NAGS_000051" "g.42085003del" "" "" "" "NAGS(NM_153006.2):c.1313delG (p.G438Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726442" "0" "50" "17" "42085890" "42085890" "subst" "1.62422E-5" "01943" "NAGS_000028" "g.42085890G>A" "" "" "" "NAGS(NM_153006.2):c.1526G>A (p.R509Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982532" "0" "50" "17" "42082327" "42082327" "subst" "7.71498E-6" "01804" "NAGS_000055" "g.42082327G>T" "" "" "" "NAGS(NM_153006.3):c.296G>T (p.(Arg99Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982533" "0" "50" "17" "42085048" "42085048" "subst" "0" "01804" "NAGS_000056" "g.42085048G>A" "" "" "" "NAGS(NM_153006.3):c.1358G>A (p.(Gly453Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985865" "1" "90" "17" "42083077" "42083077" "subst" "1.37888E-5" "00006" "NAGS_000020" "g.42083077A>G" "" "{PMID:Belanger-Quintana 2003:12942317}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.44005709A>G" "" "pathogenic (dominant)" "" "0000985924" "2" "90" "17" "42083895" "42083895" "subst" "0" "00006" "NAGS_000057" "g.42083895A>G" "" "{PMID:Belanger-Quintana 2003:12942317}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.44006527A>G" "" "pathogenic (recessive)" "" "0001003298" "0" "70" "17" "42083546" "42083546" "subst" "0" "01804" "NAGS_000058" "g.42083546C>T" "" "" "" "NAGS(NM_153006.2):c.856C>T (p.(Arg286Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003299" "0" "70" "17" "42083582" "42083582" "subst" "0" "01804" "NAGS_000059" "g.42083582G>C" "" "" "" "NAGS(NM_153006.2):c.892G>C (p.(Gly298Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056041" "0" "50" "17" "42082215" "42082215" "del" "0" "01804" "NAGS_000060" "g.42082215del" "" "" "" "NAGS(NM_153006.3):c.184del (p.(Glu62Serfs*49))" "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 NAGS ## Count = 86 "{{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}}" "0000019226" "00014262" "50" "-88445" "0" "168912" "0" "c.-88445_*167307dup" "r.?" "p.?" "_1_7_" "0000089077" "00014262" "90" "278" "0" "278" "0" "c.278del" "r.(?)" "p.(Pro93Glnfs*18)" "1" "0000089078" "00014262" "50" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Met167Val)" "2" "0000089126" "00014262" "90" "518" "0" "518" "0" "c.518T>A" "r.(?)" "p.(Val173Glu)" "2" "0000089127" "00014262" "90" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Ile)" "6" "0000089128" "00014262" "50" "598" "0" "598" "0" "c.598T>C" "r.(?)" "p.(Cys200Arg)" "2" "0000089129" "00014262" "50" "598" "0" "598" "0" "c.598T>C" "r.(?)" "p.(Cys200Arg)" "2" "0000089130" "00014262" "50" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Gly236Cys)" "3" "0000089131" "00014262" "50" "779" "0" "779" "0" "c.779C>T" "r.(?)" "p.(Pro260Leu)" "3" "0000089132" "00014262" "50" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Thr264Met)" "3" "0000089133" "00014262" "50" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Ala279Thr)" "3" "0000089134" "00014262" "50" "872" "0" "872" "0" "c.872T>A" "r.(?)" "p.(Ile291Asn)" "3" "0000089135" "00014262" "50" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "4" "0000089136" "00014262" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Ile)" "6" "0000089137" "00014262" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Val350Ile)" "4" "0000089138" "00014262" "50" "1324" "0" "1324" "0" "c.1324C>G" "r.(?)" "p.(Leu442Val)" "6" "0000089139" "00014262" "50" "1172" "0" "1172" "0" "c.1172T>G" "r.(?)" "p.(Leu391Arg)" "5" "0000089140" "00014262" "50" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000089141" "00014262" "50" "1192" "0" "1192" "0" "c.1192A>T" "r.(?)" "p.(Ser398Cys)" "5" "0000091180" "00014262" "90" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Ser410Pro)" "5" "0000091181" "00014262" "90" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Ser410Pro)" "5" "0000091182" "00014262" "90" "1241" "0" "1241" "0" "c.1241G>C" "r.(?)" "p.(Arg414Pro)" "5" "0000091183" "00014262" "70" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Gly457Asp)" "6" "0000091184" "00014262" "70" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Arg509Gln)" "7" "0000091185" "00014262" "70" "1097" "-1" "1097" "-1" "c.1097-1G>C" "r.spl" "p.?" "" "0000091186" "00014262" "70" "1535" "0" "1535" "0" "c.1535A>G" "r.(?)" "p.(Tyr512Cys)" "7" "0000091187" "00014262" "90" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Ala518Thr)" "7" "0000091188" "00014262" "90" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Ala518Thr)" "7" "0000091189" "00014262" "90" "545" "0" "545" "0" "c.545del" "r.(?)" "p.(Ala182Valfs*23)" "" "0000091190" "00014262" "90" "545" "0" "545" "0" "c.545del" "r.(?)" "p.(Ala182Valfs*23)" "2" "0000091191" "00014262" "90" "916" "-2" "916" "-2" "c.916-2A>T" "r.spl" "p.?" "" "0000091192" "00014262" "90" "1307" "0" "1307" "0" "c.1307dup" "r.(?)" "p.(Thr439Hisfs*52)" "6" "0000091193" "00014262" "90" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "4" "0000091194" "00014262" "90" "1036" "0" "1036" "0" "c.1036dup" "r.(?)" "p.(His346Profs*10)" "4" "0000091195" "00014262" "90" "1264" "0" "1264" "0" "c.1264G>T" "r.(?)" "p.(Glu422*)" "5" "0000292986" "00014262" "10" "1608" "0" "1608" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000292987" "00014262" "10" "1096" "20" "1096" "20" "c.1096+20C>G" "r.(=)" "p.(=)" "" "0000292988" "00014262" "10" "1446" "0" "1446" "0" "c.1446T>C" "r.(?)" "p.(Asn482=)" "" "0000292989" "00014262" "10" "1451" "9" "1451" "9" "c.1451+9T>C" "r.(=)" "p.(=)" "" "0000296308" "00014262" "10" "1608" "0" "1608" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000296309" "00014262" "10" "1096" "20" "1096" "20" "c.1096+20C>G" "r.(=)" "p.(=)" "" "0000302870" "00014262" "10" "1608" "0" "1608" "0" "c.*3C>T" "r.(=)" "p.(=)" "" "0000302871" "00014262" "10" "1096" "20" "1096" "20" "c.1096+20C>G" "r.(=)" "p.(=)" "" "0000302872" "00014262" "10" "1451" "9" "1451" "9" "c.1451+9T>C" "r.(=)" "p.(=)" "" "0000302873" "00014262" "30" "915" "29" "915" "29" "c.915+29C>T" "r.(=)" "p.(=)" "" "0000316667" "00014262" "50" "5020" "0" "5020" "0" "c.*3415C>T" "r.(=)" "p.(=)" "" "0000349814" "00014262" "90" "1494" "0" "1494" "0" "c.1494G>A" "r.(?)" "p.(Trp498Ter)" "" "0000561878" "00014262" "10" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Glu61Gly)" "" "0000561879" "00014262" "10" "426" "19" "426" "19" "c.426+19G>A" "r.(=)" "p.(=)" "" "0000561880" "00014262" "30" "572" "0" "572" "0" "c.572A>G" "r.(?)" "p.(Glu191Gly)" "" "0000561881" "00014262" "10" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000561882" "00014262" "10" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(Phe362=)" "" "0000578161" "00014262" "90" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Trp324*)" "" "0000578177" "00014262" "90" "1313" "0" "1313" "0" "c.1313dup" "r.(?)" "p.(Thr439Hisfs*52)" "" "0000578178" "00014262" "90" "1313" "0" "1313" "0" "c.1313del" "r.(?)" "p.(Gly438Alafs*10)" "" "0000578179" "00014262" "90" "1494" "0" "1494" "0" "c.1494G>A" "r.1494g>a" "p.Trp498*" "" "0000578180" "00014262" "90" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Trp324*)" "4" "0000578181" "00014262" "90" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Trp324*)" "4" "0000578182" "00014262" "90" "1025" "0" "1025" "0" "c.1025del" "r.(?)" "p.(Arg342Profs*50)" "4" "0000578183" "00014262" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Leu430Pro)" "6" "0000578184" "00014262" "90" "1289" "0" "1289" "0" "c.1289T>C" "r.(?)" "p.(Leu430Pro)" "6" "0000578185" "00014262" "90" "1299" "0" "1299" "0" "c.1299G>C" "r.(?)" "p.(Glu433Asp)" "6" "0000578186" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578187" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578188" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578189" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578190" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578191" "00014262" "90" "1450" "0" "1450" "0" "c.1450T>C" "r.(?)" "p.(Trp484Arg)" "6" "0000578192" "00014262" "90" "-3064" "0" "-3064" "0" "c.-3064C>A" "r.(=)" "p.(=)" "1" "0000578193" "00014262" "10" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Leu19Leu )" "1" "0000578194" "00014262" "10" "374" "0" "374" "0" "c.374C>A" "r.(?)" "p.(Thr125Lys)" "1" "0000578195" "00014262" "10" "916" "-57" "916" "-57" "c.916-57C>T" "r.(?)" "p.(=)" "3i" "0000578196" "00014262" "10" "1086" "0" "1086" "0" "c.1086T>C" "r.(?)" "p.(=)" "4" "0000578197" "00014262" "10" "1096" "20" "1096" "20" "c.1096+20C>G" "r.(?)" "p.(=)" "4i" "0000578198" "00014262" "10" "1451" "9" "1451" "9" "c.1451+9T>C" "r.(?)" "p.(=)" "6i" "0000578199" "00014262" "10" "1451" "10" "1451" "10" "c.1451+10G>A" "r.(?)" "p.(=)" "6i" "0000578200" "00014262" "10" "1608" "0" "1608" "0" "c.*3C>T" "r.(?)" "p.(=)" "7" "0000726441" "00014262" "90" "1313" "0" "1313" "0" "c.1313del" "r.(?)" "p.(Gly438Alafs*10)" "" "0000726442" "00014262" "50" "1526" "0" "1526" "0" "c.1526G>A" "r.(?)" "p.(Arg509Gln)" "" "0000982532" "00014262" "50" "296" "0" "296" "0" "c.296G>T" "r.(?)" "p.(Arg99Leu)" "" "0000982533" "00014262" "50" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Gly453Asp)" "" "0000985865" "00014262" "90" "499" "0" "499" "0" "c.499A>G" "r.(?)" "p.(Met167Val)" "" "0000985924" "00014262" "90" "916" "-2" "916" "-2" "c.916-2A>G" "r.spl" "p.?" "" "0001003298" "00014262" "70" "856" "0" "856" "0" "c.856C>T" "r.(?)" "p.(Arg286Trp)" "" "0001003299" "00014262" "70" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Gly298Arg)" "" "0001056041" "00014262" "50" "184" "0" "184" "0" "c.184del" "r.(?)" "p.(Glu62Serfs*49)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 61 "{{screeningid}}" "{{variantid}}" "0000001436" "0000019226" "0000058495" "0000089077" "0000058495" "0000089078" "0000058540" "0000089126" "0000058540" "0000089127" "0000058541" "0000089128" "0000058542" "0000089129" "0000058543" "0000089130" "0000058544" "0000089131" "0000058545" "0000089132" "0000058546" "0000089133" "0000058547" "0000089134" "0000058548" "0000089135" "0000058548" "0000089136" "0000058549" "0000089137" "0000058549" "0000089138" "0000058550" "0000089139" "0000058550" "0000089140" "0000058551" "0000089141" "0000060203" "0000091180" "0000060204" "0000091181" "0000060205" "0000091182" "0000060206" "0000091183" "0000060207" "0000091184" "0000060207" "0000091185" "0000060208" "0000091186" "0000060209" "0000091187" "0000060210" "0000091188" "0000060211" "0000091189" "0000060212" "0000091190" "0000060213" "0000091191" "0000060213" "0000091192" "0000060214" "0000091193" "0000060215" "0000091194" "0000060216" "0000091195" "0000249389" "0000578161" "0000249401" "0000578177" "0000249402" "0000578178" "0000249403" "0000578179" "0000249404" "0000578180" "0000249405" "0000578181" "0000249406" "0000578182" "0000249407" "0000578183" "0000249408" "0000578184" "0000249409" "0000578185" "0000249410" "0000578186" "0000249411" "0000578187" "0000249412" "0000578188" "0000249413" "0000578189" "0000249414" "0000578190" "0000249415" "0000578191" "0000249417" "0000578193" "0000249418" "0000578194" "0000249419" "0000578195" "0000249420" "0000578196" "0000249421" "0000578197" "0000249422" "0000578198" "0000249423" "0000578199" "0000249424" "0000578200" "0000451946" "0000985865" "0000451946" "0000985924"