### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OSGEP) # 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}}" "OSGEP" "O-sialoglycoprotein endopeptidase" "14" "q12" "unknown" "NC_000014.8" "UD_132319751846" "" "https://www.LOVD.nl/OSGEP" "" "1" "18028" "55644" "610107" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OSGEP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-01-17 16:53:41" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00015489" "OSGEP" "O-sialoglycoprotein endopeptidase" "001" "NM_017807.3" "" "NP_060277.1" "" "" "" "-425" "1200" "1008" "20923267" "20915207" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "06238" "GAMOS3" "Galloway-Mowat syndrome 3" "AR" "617729" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OSGEP" "06238" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00095419" "" "" "" "1" "" "00773" "" "" "F" "yes" "Palestine" "06y" "0" "yes" "" "" "" "00164423" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00325393" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat6" "00431257" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "" "" "0" "" "" "American Indian" "CP" "00431258" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected, brother died 12d" "M" "no" "China" "3m" "0" "" "" "" "B377" "00431259" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "Taiwan" "3m" "0" "" "" "China" "B58" "00431260" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "Taiwan" "3m" "0" "" "" "China" "15M1869" "00431261" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "Taiwan" "98d" "0" "" "" "China" "15M1870" "00431262" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "Taiwan" "6m" "0" "" "" "China" "15M2114" "00431263" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "Taiwan" "5m" "0" "" "" "China" "15M2118" "00431264" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "Taiwan" "5m" "0" "" "" "China" "15M2121" "00431265" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected sibs" "M" "no" "Taiwan" "5m" "0" "" "" "China" "B63" "00431266" "" "" "00431265" "1" "" "00006" "{PMID:Braun 2017:28805828}" "sib" "F" "no" "Taiwan" "3m" "0" "" "" "China" "15M2113" "00431268" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "" "2m15d" "0" "" "" "Europe" "DS" "00431271" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "yes" "Iran" "2y6m" "0" "" "" "white" "B50" "00431272" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "yes" "" "2y1m" "0" "" "" "Iran;white;Iraq;Kurdish" "B57" "00431276" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected sibs" "M" "yes" "Turkey" "" "0" "" "" "" "PN553-21" "00431277" "" "" "00431276" "1" "" "00006" "{PMID:Braun 2017:28805828}" "sib" "F" "yes" "Turkey" "" "0" "" "" "" "PN553-22" "00431278" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "Viet Nam;Thailand" "2m15d" "0" "" "" "" "DC" "00431280" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected" "M" "no" "" "" "0" "" "" "Afro- Caribbean" "N2705" "00431281" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "" "2y" "0" "" "" "Asia" "A3729" "00431282" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected sibs" "M" "no" "" "" "0" "" "" "white" "B69" "00431283" "" "" "00431282" "1" "" "00006" "{PMID:Braun 2017:28805828}" "sib" "M" "no" "" "" "0" "" "" "white" "B70" "00431284" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "" "19m" "0" "" "" "white;Hispanic" "B80" "00431285" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, 2 affected" "F" "no" "Taiwan" "1y9m" "0" "" "" "China" "B84" "00431288" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "" "" "0" "" "" "Hispanic" "B1504" "00431289" "" "" "" "2" "" "00006" "{PMID:Braun 2017:28805828}" "family, affected brother/sister (F, M)" "M" "no" "Jordan" "6m" "0" "" "" "" "N3741" "00431290" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "Netherlands" "1m15d" "0" "" "" "" "B83" "00431291" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "United States" "2y6m" "0" "" "" "" "KW-21" "00431292" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "M" "no" "United States" "" "0" "" "" "" "KW-22" "00431293" "" "" "" "1" "" "00006" "{PMID:Braun 2017:28805828}" "" "F" "no" "United States" "" "0" "" "" "" "B87" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00095419" "05162" "00164423" "00198" "00325393" "00198" "00431257" "00399" "00431258" "00399" "00431259" "00399" "00431260" "00399" "00431261" "00399" "00431262" "00399" "00431263" "00399" "00431264" "00399" "00431265" "00399" "00431266" "00399" "00431268" "00399" "00431271" "00399" "00431272" "00399" "00431276" "00399" "00431277" "00399" "00431278" "00399" "00431280" "00399" "00431281" "00399" "00431282" "00399" "00431283" "00399" "00431284" "00399" "00431285" "00399" "00431288" "00399" "00431289" "00399" "00431290" "00399" "00431291" "00399" "00431292" "00399" "00431293" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 05162, 06238 ## Count = 31 "{{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}}" "0000073818" "05162" "00095419" "00773" "Familial, autosomal recessive" "" "Hypotonia, microcephaly, speech delay, renal disease (hypomagnesemia)" "00y00m03d" "" "" "" "" "" "" "" "" "" "" "0000129482" "00198" "00164423" "01807" "Unknown" "" "Encephalopathy (HP:0001298); Microcephaly (HP:0000252); Nephrotic syndrome (HP:0000100)" "" "" "" "" "" "" "" "" "" "" "" "0000243880" "00198" "00325393" "00006" "Familial, autosomal recessive" "" "21d-onset seizures; 6m-deceased; focal seizures; severe cognitive delay" "" "3m" "" "" "" "" "" "" "" "lissencephaly, seizures" "" "0000321857" "00399" "00431257" "00006" "Familial, autosomal recessive" "" "3.5y-proteinuria, no end stage renal disease, alive with normal renal function; primary microcephaly, developmental delay, hypotonia (trunk), spasticity (lower limbs) coordination disorder, intellectual disability; MRI cranial cerebellar atrophy/ hypoplasia; prominent large ears, frontal bossing, broad nasal bridge, high-arched palate and scarce eyebrows, eczema initially; hypomagnesemia; proteinuria (non-nephrotic), medullary nephro- alcinosis" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321858" "00399" "00431258" "00006" "Familial, autosomal recessive" "3m" "1d-proteinuria; 1m-end stage renal disease; 3m-died; primary microcephaly, developmental delay, opisthotonos; MRI cranial broad gyri and hypoplasia of sulci in frontotemporal areas, possible leukoencephalopathy, subdural fluid collection; hypertelorism, deep-set eyes, micrognathia skeletal: arachnodactyly; oligohydramnios, intrauterine growth restriction (2496 g at 40w ga), lactic aciduria, pulmonary edema, aspiration pneumonia; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321859" "00399" "00431259" "00006" "Familial, autosomal recessive" "3m" "1d-proteinuria; no end stage renal disease; 3m-died; biopsy minimal change nephrotic syndrome, thin basement membrane nephropathy?; primary microcephaly, seizures, developmental delay; MRI cranial abnormal gyration, diffuse cerebral cortical atrophy; narrow forehead, hypertelorism, epicanthal folds, deep-set eyes, large and floppy left ear , micrognathia vision/hearing: bilateral mild hearing impairment skeletal: arachnodactyly; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321860" "00399" "00431260" "00006" "Familial, autosomal recessive" "3m" "6w-proteinuria; no end stage renal disease; 3m-died; biopsy mild glomerular changes, irregular thickness glomerular basement membrane; primary microcephaly, seizures, hypotonia, developmental delay; MRI cranial subdural fluid accumulations in left frontal temporal parietal and right frontal parietal lobes, lack of myelination; narrow forehead, deep-set eyes, floppy ears, micrognathia skeletal: arachnodactyly vision/hearing: bilateral severe hearing and visual-cortical dysfunction; intrauterine growth restriction (2460 g at term); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321861" "00399" "00431261" "00006" "Familial, autosomal recessive" "98d" "1d-proteinuria; no end stage renal disease; 14w-died; primary microcephaly; MRI cranial simplified gyri and sulci, pachygyria in the frontal lobes, reduced density of the frontal white matter; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2350 g at 36w ga); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321862" "00399" "00431262" "00006" "Familial, autosomal recessive" "6m" "1m-proteinuria; no end stage renal disease; 6m-died; primary microcephaly; MRI cranial brain atrophy, hypodense cerebral white matter, thin corpus callosum; floppy ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (840 g at 28w ga); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321863" "00399" "00431263" "00006" "Familial, autosomal recessive" "5m" "1m-proteinuria; no end stage renal disease; 5m-died; biopsy diffuse foot process effacement; primary microcephaly, abnormal eeg recordings with diffuse cortical dysfunction; MRI cranial cerebral and cerebellar atrophy, simplified frontal and temporal gyration, white matter changes; flat nasal bridge, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (2034 g at 39w ga); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321864" "00399" "00431264" "00006" "Familial, autosomal recessive" "5m" "1m-proteinuria; 2m-end stage renal disease; 5m-died; biopsy foot process effacement irregular glomerular basement membrane; primary microcephaly, poor development, hypotonia, poor sucking power, abnormal eeg; MRI cranial abnormal gyration, cortical dysplasia, periventricular white mater changes, hypomyelination, enlarged subdural spaces and ventricles, mild cerebellar atrophy; micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1760 g at 37w ga); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321865" "00399" "00431265" "00006" "Familial, autosomal recessive" "5m" "1m-proteinuria; 4m-end stage renal disease; 5m-died; primary microcephaly, seizures, developmental delay, hypotonia; MRI cranial frontal pachygyria, cerebral atrophy, poor myelination, subependymal cysts, bilateral ventricular dilation; prominent occiput, prominent glabella, micrognathia vision/hearing: bilateral auditory and visual dysfunction shown by aep/ visual evoked potential skeletal: camptodactyly, arachnodactyly, clenched hands, mild hip contractures; intrauterine growth restriction, low-positioned nipples, cryptorchidism, relatively small penis; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321866" "00399" "00431266" "00006" "Familial, autosomal recessive" "3m" "2d-proteinuria; no end stage renal disease; 3m-died; primary microcephaly seizures, hypotonia; MRI cranial simplified frontotemporal gyri and sulci, encephalomalacia; small, narrow forehead, prominent glabella, hypertelorism, deep-set eyes, prominent, floppy ears, micrognathia skeletal: arachnodactyly; larygomalacia, swallowing disturbance, aspiration pneumonia; significant lactic aciduria; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321868" "00399" "00431268" "00006" "Familial, autosomal recessive" "2m15d" "14d-proteinuria; 2.5m-end stage renal disease; 2.5m-died; primary microcephaly, hypotonia, developmental delay, seizures; MRI cranial pachygria, polymicrogyria skeletal: arachnodactyly, camptodactyly; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321871" "00399" "00431271" "00006" "Familial, autosomal recessive" "2y6m" "4m-proteinuria; 2y-end stage renal disease; 2y6m-died; primary microcephaly, developmental delay, severe intellectual disability, spasticity, seizures; large, floppy ears skeletal: short stature heart: atrial septal defect; preterm birth; infantile steroid resistant nephrotic syndrome syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321872" "00399" "00431272" "00006" "Familial, autosomal recessive" "2y1m" "5m-proteinuria; 22m-end stage renal disease; 25m-died; biopsy 1om-focal segmental glomerulosclerosis; primary microcephaly, abnormalities in motor development, speech delay, spasticity vision/hearing: strabism skeletal: short stature; steroid resistant nephrotic syndrome (steroid, immuno-suppression, dialysis)" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321876" "00399" "00431276" "00006" "Familial, autosomal recessive" "" "initially steroid-sensitive nephrotic syndrome; 13y-proteinuria; no end stage renal disease; alive at present; biopsy focal segmental glomerulosclerosis; diabetes mellitus type II" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321877" "00399" "00431277" "00006" "Familial, autosomal recessive" "" "initially partially steroid-sensitive nephrotic syndrome; 11m--proteinuria; 12y6m-end stage renal disease; 13y-alive; biopsy focal segmental glomerulosclerosis; recurrent headaches, double vision; MRI cranial retro bulbar intra orbital lymphatic malformation; aneurysm of the ascending aorta; nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321878" "00399" "00431278" "00006" "Familial, autosomal recessive" "2m15d" "1d-proteinuria; 2m-died; biopsy collapsing focal segmental glomerulosclerosis; primary microcephaly, hypotonia; MRI cranial cerebellar vermis atrophy with prominent interfoliate sulci, thrombosed left transverse sinus, underdeveloped cortical ribbon; hypertelorism, down slanting palpebral fissures heart: atrial septal defect skeletal: camptodactyly (fingers and toes); preterm birth (34w ga); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321880" "00399" "00431280" "00006" "Familial, autosomal recessive" "10y6m" "13m-proteinuria, no end stage renal disease, 10y6m-alive with normal renal function; primary microcephaly, developmental delay, aggressive behavior; MRI cranial myelination delay, cerebellar atrophy, atrophy of upper spinal cord and medulla; nephrotic syndrome; older brother 22m-steroid resistant nephrotic syndrome, 14m-died from ESKD" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321881" "00399" "00431281" "00006" "Familial, autosomal recessive" "2y" "14m-proteinuria; 2y-died; primary microcephaly, seizures, intellectual disability, delay motor milestones, hypotonia; MRI cranial diffuse brain atrophy, atrophic corpus callosum, smaller ventral pons, enlarged subdural/subarachnoid spaces; ptosis, entropion repair skeletal: short stature; infantile nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321882" "00399" "00431282" "00006" "Familial, autosomal recessive" "" "3m-proteinuria, 11m-end stage renal disease; primary microcephaly, seizures, myoclonus, developmental delay; MRI cranial lissencephaly; narrow forehead, large, low-set ears, small mouth, micrognathia skeletal: short stature; hiatal hernia" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321883" "00399" "00431283" "00006" "Familial, autosomal recessive" "" "13m-congenital proteinuria; microcephaly, seizures, spasticity, developmental delay; congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321884" "00399" "00431284" "00006" "Familial, autosomal recessive" "19m" "14m-proteinuria; 19m-died; biopsy 15m-focal segmental glomerulosclerosis; primary microcephaly, myoclonic seizures, developmental delay, hypotonia, spasticity; MRI cranial enlarged subdural/subarachnoidal spaces, poor myelination, gyral simplification, cerebellar atrophy; large, floppy ears, pinched nose vision/hearing: visual impairment; nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321885" "00399" "00431285" "00006" "Familial, autosomal recessive" "1y9m" "2d-proteinuria; 1y7m-end stage renal disease; 1y9m-died; primary microcephaly, developmental delay, seizures; MRI cranial pachygyria, bilateral ependymal cyst; broad nose bridge, hypertelorism, large ears, micrognathia skeletal: arachnodactyly; intrauterine growth restriction (1954 g 38w ga); congenital nephrotic syndrome; previous child edema, 5m-renal failure, 13m-died" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321888" "00399" "00431288" "00006" "Familial, autosomal recessive" "" "6m-proteinuria; 2y-end stage renal disease; alive with end stage renal disease under renal replacement therapy; biopsy 6m-focal segmental glomerulosclerosis; primary microcephaly, hypotonia, hyperreflexia, developmental delay, speech delay; MRI cranial poor myelination; dysmorphism vision/hearing: esotropia, hyperopia skeletal: camptodactyly heart: patent ductus arteriosus, atrial septal defect; infantile nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321889" "00399" "00431289" "00006" "Familial, autosomal recessive" "6m" "6m-proteinuria; 6m-end stage renal disease; 6m-died; primary microcephaly, developmental delay; MRI cranial cerebral atrophy, bilateral lissencephaly predominantly in frontotemporal regions, thin corpus callosum; low-set ears, hypertelorism, small down ward slanting eyes; infantile nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321890" "00399" "00431290" "00006" "Familial, autosomal recessive" "1m15d" "1m-proteinuria; 1m-end stage renal disease; 6w-died; biopsy diffuse mesangial sclerosis; primary microcephaly, developmental delay; MRI cranial reduced gyration, cerebellar hypoplasia, abnormal myelination; long convex beaked nose, thin upper lip, down turned corners of the mouth, micrognathia, pointed chin skeletal: arachnodactyly, adducted thumbs, dislocated hips, talipes calcaneovalgus (after oligohydramnios); congenital nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321891" "00399" "00431291" "00006" "Familial, autosomal recessive" "2y6m" "no proteinuria; 2y6m-died; primary microcephaly, seizures; MRI cranial lissencephaly, hypogenesis of corpus callosum; large, floppy ears, unusual fat distribution skeletal: congenital hip dislocation; poor wound healing, mild direct hyperbilirubinemia, elevated ast/ast and alp; no nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321892" "00399" "00431292" "00006" "Familial, autosomal recessive" "7m" "no proteinuria; 7m-alive at present; primary microcephaly; MRI cranial lissencephaly; large, floppy ears, unusual fat distribution; poor wound healing; no nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" "0000321893" "00399" "00431293" "00006" "Familial, autosomal recessive" "" "19m-proteinuria; biopsy focal segmental glomerulosclerosis; primary microcephaly, seizures, developmental delay, speech delay, repetitive movements, hand tapping; MRI cranial cerebellar atrophy; nephrotic syndrome" "" "" "" "" "" "" "" "" "GAMOS3" "nephrotic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095817" "00095419" "1" "00773" "00773" "2017-01-16 11:26:30" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000165290" "00164423" "1" "01807" "01807" "2018-05-17 16:06:54" "" "" "SEQ" "DNA" "" "" "0000326604" "00325393" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432669" "00431257" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432670" "00431258" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432671" "00431259" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432672" "00431260" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432673" "00431261" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432674" "00431262" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432675" "00431263" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432676" "00431264" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432677" "00431265" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432678" "00431266" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432680" "00431268" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432683" "00431271" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432684" "00431272" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432688" "00431276" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432689" "00431277" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432690" "00431278" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432692" "00431280" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432693" "00431281" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432694" "00431282" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432695" "00431283" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432696" "00431284" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432697" "00431285" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432700" "00431288" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432701" "00431289" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432702" "00431290" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432703" "00431291" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432704" "00431292" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432705" "00431293" "1" "00006" "00006" "2023-02-06 20:38:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000095817" "OSGEP" "0000326604" "OSGEP" ## 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 = 61 "{{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}}" "0000154424" "3" "90" "14" "20915433" "20915433" "subst" "1.62433E-5" "00773" "OSGEP_000001" "g.20915433C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.20447274C>T" "" "pathogenic" "" "0000341605" "0" "50" "14" "20920293" "20920293" "subst" "0" "02327" "OSGEP_000003" "g.20920293G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20452134G>A" "" "VUS" "" "0000344239" "0" "90" "14" "20920216" "20920216" "subst" "0.00028859" "02327" "OSGEP_000002" "g.20920216A>G" "" "" "" "OSGEP(NM_017807.4):c.328T>C (p.C110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20452057A>G" "" "pathogenic" "" "0000368949" "3" "50" "14" "20922803" "20922803" "subst" "0" "01807" "OSGEP_000004" "g.20922803T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.20454644T>A" "" "VUS" "" "0000551465" "0" "10" "14" "20916249" "20916249" "subst" "0.257007" "01943" "OSGEP_000005" "g.20916249T>C" "" "" "" "OSGEP(NM_017807.4):c.702+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20448090T>C" "" "benign" "" "0000551467" "0" "10" "14" "20916958" "20916958" "subst" "0.529263" "01943" "OSGEP_000007" "g.20916958T>C" "" "" "" "OSGEP(NM_017807.4):c.570A>G (p.L190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20448799T>C" "" "benign" "" "0000551468" "0" "10" "14" "20916987" "20916987" "subst" "0.501887" "01943" "OSGEP_000008" "g.20916987G>A" "" "" "" "OSGEP(NM_017807.4):c.558-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20448828G>A" "" "benign" "" "0000551469" "0" "10" "14" "20917442" "20917442" "subst" "0.566598" "01943" "OSGEP_000009" "g.20917442A>T" "" "" "" "OSGEP(NM_017807.4):c.412-17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20449283A>T" "" "benign" "" "0000551471" "0" "90" "14" "20920212" "20920212" "subst" "8.12817E-6" "02327" "APEX1_000001" "g.20920212A>G" "" "" "" "OSGEP(NM_017807.4):c.332T>C (p.I111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20452053A>G" "" "pathogenic" "" "0000614759" "0" "90" "14" "20920212" "20920212" "subst" "8.12817E-6" "02325" "APEX1_000001" "g.20920212A>G" "" "" "" "OSGEP(NM_017807.4):c.332T>C (p.I111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20452053A>G" "" "pathogenic" "" "0000710189" "3" "90" "14" "62073835" "62073835" "subst" "0" "00006" "OSGEP_000010" "g.62073835G>A" "" "{PMID:Hong 2020:33333793}" "" "" "" "Germline" "" "" "0" "" "" "g.63442482G>A" "" "pathogenic (recessive)" "" "0000724661" "0" "70" "14" "20920212" "20920212" "subst" "8.12817E-6" "02329" "APEX1_000001" "g.20920212A>G" "" "" "" "OSGEP(NM_017807.4):c.332T>C (p.I111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724662" "0" "70" "14" "20920216" "20920216" "subst" "0.00028859" "02329" "OSGEP_000002" "g.20920216A>G" "" "" "" "OSGEP(NM_017807.4):c.328T>C (p.C110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806287" "0" "30" "14" "20915565" "20915565" "subst" "0.000503787" "02326" "OSGEP_000011" "g.20915565G>C" "" "" "" "OSGEP(NM_017807.4):c.968+16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863484" "0" "30" "14" "20915695" "20915696" "del" "0" "02326" "OSGEP_000012" "g.20915695_20915696del" "" "" "" "OSGEP(NM_017807.4):c.870-12_870-11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891669" "0" "30" "14" "20915762" "20915763" "del" "0" "02326" "OSGEP_000013" "g.20915762_20915763del" "" "" "" "OSGEP(NM_017807.4):c.869+12_869+13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891670" "0" "70" "14" "20920216" "20920216" "subst" "0.00028859" "02326" "OSGEP_000002" "g.20920216A>G" "" "" "" "OSGEP(NM_017807.4):c.328T>C (p.C110R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000918226" "3" "70" "14" "20915433" "20915433" "subst" "1.62433E-5" "00006" "OSGEP_000001" "g.20915433C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447274C>T" "" "likely pathogenic (recessive)" "" "0000918227" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918228" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918229" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918230" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918231" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918232" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918233" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918234" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918235" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918237" "3" "70" "14" "20920225" "20920225" "subst" "2.43833E-5" "00006" "OSGEP_000022" "g.20920225C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452066C>T" "" "likely pathogenic (recessive)" "" "0000918240" "3" "70" "14" "20922803" "20922803" "subst" "0" "00006" "OSGEP_000004" "g.20922803T>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20454644T>A" "" "likely pathogenic (recessive)" "" "0000918241" "3" "70" "14" "20922803" "20922803" "subst" "0" "00006" "OSGEP_000004" "g.20922803T>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20454644T>A" "" "likely pathogenic (recessive)" "" "0000918245" "3" "70" "14" "20917421" "20917421" "subst" "4.06085E-6" "00006" "OSGEP_000020" "g.20917421A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20449262A>G" "" "likely pathogenic (recessive)" "" "0000918246" "3" "70" "14" "20917421" "20917421" "subst" "4.06085E-6" "00006" "OSGEP_000020" "g.20917421A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20449262A>G" "" "likely pathogenic (recessive)" "" "0000918247" "3" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918249" "21" "70" "14" "20915804" "20915804" "subst" "2.03196E-5" "00006" "OSGEP_000015" "g.20915804C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447645C>T" "" "likely pathogenic (recessive)" "" "0000918250" "10" "70" "14" "20916935" "20916935" "subst" "0" "00006" "OSGEP_000018" "g.20916935T>C" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20448776T>C" "" "likely pathogenic (recessive)" "" "0000918251" "1" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918252" "1" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918253" "1" "70" "14" "20922842" "20922842" "subst" "0" "00006" "OSGEP_000025" "g.20922842T>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20454683T>A" "" "likely pathogenic (recessive)" "" "0000918254" "11" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918257" "21" "70" "14" "20920491" "20920491" "subst" "0" "00006" "OSGEP_000024" "g.20920491T>C" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452332T>C" "" "likely pathogenic (recessive)" "" "0000918258" "21" "70" "14" "20920310" "20920310" "del" "0" "00006" "OSGEP_000023" "g.20920310del" "" "{PMID:Braun 2017:28805828}" "" "c.236-2delA" "" "Germline" "" "" "0" "" "" "g.20452151del" "" "likely pathogenic (recessive)" "" "0000918259" "11" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918260" "1" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918261" "1" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918262" "10" "70" "14" "20920216" "20920216" "subst" "0.00028859" "00006" "OSGEP_000002" "g.20920216A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452057A>G" "" "likely pathogenic (recessive)" "" "0000918263" "11" "70" "14" "20915433" "20915433" "subst" "1.62433E-5" "00006" "OSGEP_000001" "g.20915433C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447274C>T" "" "likely pathogenic (recessive)" "" "0000918264" "21" "70" "14" "20916116" "20916116" "subst" "0.000113709" "00006" "OSGEP_000010" "g.20916116C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447957C>T" "" "likely pathogenic (recessive)" "" "0000918265" "2" "70" "14" "20915433" "20915433" "subst" "1.62433E-5" "00006" "OSGEP_000001" "g.20915433C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447274C>T" "" "likely pathogenic (recessive)" "" "0000918266" "2" "70" "14" "20915433" "20915433" "subst" "1.62433E-5" "00006" "OSGEP_000001" "g.20915433C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447274C>T" "" "likely pathogenic (recessive)" "" "0000918267" "2" "70" "14" "20915804" "20915804" "subst" "4.06392E-6" "00006" "OSGEP_000016" "g.20915804C>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447645C>A" "" "likely pathogenic (recessive)" "" "0000918268" "21" "70" "14" "20920111" "20920121" "delins" "0" "00006" "OSGEP_000021" "g.20920111_20920121delinsCTCTATTTA" "" "{PMID:Braun 2017:28805828}" "" "c.411+12_411+22delins9" "" "Germline" "" "" "0" "" "" "g.20451952_20451962delinsCTCTATTTA" "" "likely pathogenic (recessive)" "" "0000918271" "11" "70" "14" "20915434" "20915434" "subst" "0.000109644" "00006" "OSGEP_000014" "g.20915434G>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447275G>A" "" "likely pathogenic (recessive)" "" "0000918272" "11" "70" "14" "20915433" "20915433" "subst" "1.62433E-5" "00006" "OSGEP_000001" "g.20915433C>T" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447274C>T" "" "likely pathogenic (recessive)" "" "0000918273" "21" "70" "14" "20920212" "20920212" "subst" "8.12817E-6" "00006" "APEX1_000001" "g.20920212A>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20452053A>G" "" "likely pathogenic (recessive)" "" "0000918274" "2" "70" "14" "20917150" "20917150" "subst" "2.43988E-5" "00006" "OSGEP_000019" "g.20917150C>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20448991C>G" "" "likely pathogenic (recessive)" "" "0000918275" "2" "70" "14" "20917150" "20917150" "subst" "2.43988E-5" "00006" "OSGEP_000019" "g.20917150C>G" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20448991C>G" "" "likely pathogenic (recessive)" "" "0000918276" "21" "70" "14" "20915805" "20915805" "subst" "3.25148E-5" "00006" "OSGEP_000017" "g.20915805G>A" "" "{PMID:Braun 2017:28805828}" "" "" "" "Germline" "" "" "0" "" "" "g.20447646G>A" "" "likely pathogenic (recessive)" "" "0000950211" "0" "30" "14" "20916115" "20916115" "subst" "0.000125889" "02326" "OSGEP_000026" "g.20916115T>C" "" "" "" "OSGEP(NM_017807.4):c.741A>G (p.R247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046466" "0" "50" "14" "20920511" "20920511" "subst" "9.74991E-5" "02325" "APEX1_000003" "g.20920511A>G" "" "" "" "OSGEP(NM_017807.4):c.212T>C (p.I71T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054750" "0" "50" "14" "20916137" "20916137" "subst" "0" "01804" "OSGEP_000027" "g.20916137A>G" "" "" "" "OSGEP(NM_017807.4):c.719T>C (p.(Met240Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066023" "0" "50" "14" "20916969" "20916969" "subst" "5.68731E-5" "01804" "OSGEP_000028" "g.20916969C>T" "" "" "" "OSGEP(NM_017807.4):c.559G>A (p.(Gly187Ser))" "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 OSGEP ## Count = 61 "{{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}}" "0000154424" "00015489" "90" "974" "0" "974" "0" "c.974G>A" "r.(974c>u)" "p.(Arg325Gln)" "11" "0000341605" "00015489" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Ala84Val)" "" "0000344239" "00015489" "90" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "" "0000368949" "00015489" "50" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "" "0000551465" "00015489" "10" "702" "16" "702" "16" "c.702+16A>G" "r.(=)" "p.(=)" "" "0000551467" "00015489" "10" "570" "0" "570" "0" "c.570A>G" "r.(?)" "p.(Leu190=)" "" "0000551468" "00015489" "10" "558" "-17" "558" "-17" "c.558-17C>T" "r.(=)" "p.(=)" "" "0000551469" "00015489" "10" "412" "-17" "412" "-17" "c.412-17T>A" "r.(=)" "p.(=)" "" "0000551471" "00015489" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "0000614759" "00015489" "90" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "0000710189" "00015489" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "" "0000724661" "00015489" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "" "0000724662" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "" "0000806287" "00015489" "30" "968" "16" "968" "16" "c.968+16C>G" "r.(=)" "p.(=)" "" "0000863484" "00015489" "30" "870" "-12" "870" "-11" "c.870-12_870-11del" "r.(=)" "p.(=)" "" "0000891669" "00015489" "30" "869" "12" "869" "13" "c.869+12_869+13del" "r.(=)" "p.(=)" "" "0000891670" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "" "0000918226" "00015489" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "11" "0000918227" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918228" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918229" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918230" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918231" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918232" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918233" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918234" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918235" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918237" "00015489" "70" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Val107Met)" "3" "0000918240" "00015489" "70" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "1" "0000918241" "00015489" "70" "40" "0" "40" "0" "c.40A>T" "r.(?)" "p.(Ile14Phe)" "1" "0000918245" "00015489" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Ile139Thr)" "4" "0000918246" "00015489" "70" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Ile139Thr)" "4" "0000918247" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918249" "00015489" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280His)" "9" "0000918250" "00015489" "70" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Lys198Arg)" "6" "0000918251" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918252" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918253" "00015489" "70" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "1" "0000918254" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918257" "00015489" "70" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "2" "0000918258" "00015489" "70" "236" "-2" "236" "-2" "c.236-2del" "r.spl" "p.?" "3" "0000918259" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918260" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918261" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918262" "00015489" "70" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Cys110Arg)" "3" "0000918263" "00015489" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "11" "0000918264" "00015489" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247Gln)" "8" "0000918265" "00015489" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "11" "0000918266" "00015489" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "11" "0000918267" "00015489" "70" "839" "0" "839" "0" "c.839G>T" "r.(?)" "p.(Arg280Leu)" "9" "0000918268" "00015489" "70" "411" "12" "411" "22" "c.411+12_411+22delinsTAAATAGAG" "r.spl?" "p.(?)" "3i" "0000918271" "00015489" "70" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325Trp)" "11" "0000918272" "00015489" "70" "974" "0" "974" "0" "c.974G>A" "r.(?)" "p.(Arg325Gln)" "11" "0000918273" "00015489" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Ile111Thr)" "3i" "0000918274" "00015489" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Gly177Ala)" "5" "0000918275" "00015489" "70" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Gly177Ala)" "5" "0000918276" "00015489" "70" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Cys)" "9" "0000950211" "00015489" "30" "741" "0" "741" "0" "c.741A>G" "r.(?)" "p.(=)" "" "0001046466" "00015489" "50" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Ile71Thr)" "" "0001054750" "00015489" "50" "719" "0" "719" "0" "c.719T>C" "r.(?)" "p.(Met240Thr)" "" "0001066023" "00015489" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000095817" "0000154424" "0000165290" "0000368949" "0000326604" "0000710189" "0000432669" "0000918226" "0000432670" "0000918227" "0000432671" "0000918228" "0000432672" "0000918229" "0000432673" "0000918230" "0000432674" "0000918231" "0000432675" "0000918232" "0000432676" "0000918233" "0000432677" "0000918234" "0000432678" "0000918235" "0000432680" "0000918237" "0000432683" "0000918240" "0000432684" "0000918241" "0000432688" "0000918245" "0000432689" "0000918246" "0000432690" "0000918247" "0000432692" "0000918249" "0000432692" "0000918263" "0000432693" "0000918250" "0000432693" "0000918264" "0000432694" "0000918251" "0000432694" "0000918265" "0000432695" "0000918252" "0000432695" "0000918266" "0000432696" "0000918253" "0000432696" "0000918267" "0000432697" "0000918254" "0000432697" "0000918268" "0000432700" "0000918257" "0000432700" "0000918271" "0000432701" "0000918258" "0000432701" "0000918272" "0000432702" "0000918259" "0000432702" "0000918273" "0000432703" "0000918260" "0000432703" "0000918274" "0000432704" "0000918261" "0000432704" "0000918275" "0000432705" "0000918262" "0000432705" "0000918276"