### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARCN1) # 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}}" "ARCN1" "archain 1" "11" "q23.3" "unknown" "NC_000011.9" "UD_136085604644" "" "http://www.LOVD.nl/ARCN1" "" "1" "649" "372" "600820" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ARCN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-28 13:12:33" "00000" "2025-05-05 21:14:00" ## 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}}" "00025982" "ARCN1" "transcript variant 1" "002" "NM_001655.4" "" "NP_001646.2" "" "" "" "-161" "3855" "1536" "118443102" "118473748" "00006" "2025-02-28 13:10:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "06115" "SSMG;SRMMD" "short stature-micrognathia syndrome" "AD" "617164" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2025-02-28 13:05:45" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ARCN1" "06115" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00464283" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "323471" "00464286" "" "" "" "1" "" "00006" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00464287" "" "" "" "1" "" "00006" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Singapore" "" "0" "" "" "" "Pat2" "00464288" "" "" "" "1" "" "00006" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "2-generation family, affected father/daughter, unaffected non carrier paternal grandparents" "M" "" "Belgium" "" "0" "" "" "" "Pat3" "00464289" "" "" "" "1" "" "00006" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "daughter" "F" "" "Belgium" "" "0" "" "" "" "Pat4" "00464290" "" "" "" "1" "" "00006" "{PMID:Reunert 2019:31075182}, {DOI:Reunert 2019:10.1002/ajmg.a.61190}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "Germany" "" "0" "" "" "" "patient" "00464291" "" "" "" "1" "" "00006" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "no" "United States" "" "0" "" "" "white;Peru;native American" "patient" "00464302" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United States" "" "0" "" "" "" "PatC1" "00464303" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "" "PatC2" "00464304" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United States" "" "0" "" "" "" "PatC3" "00464305" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United States" "" "0" "" "" "" "PatC4" "00464306" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "PatD1" "00464307" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "PatT1" "00464308" "" "" "" "2" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, affected mother with several affected fetuses, unaffected parents" "F" "" "United States" "" "0" "" "" "" "PatF1" "00464309" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Norway" "" "0" "" "" "" "PatN1" "00464310" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "2-generation family, 1 affected, unaffected parents" "F" "" "Japan" "" "0" "" "" "" "PatJ1" "00464311" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "affected fetus" "" "" "" "<0d" "0" "" "" "" "fetus" "00464312" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "affected fetus" "" "" "" "<0d" "0" "" "" "" "fetus" "00464313" "" "" "" "1" "" "00006" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "affected fetus" "" "" "" "<0d" "0" "" "" "" "fetus" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00464283" "06115" "00464286" "00198" "00464287" "00198" "00464288" "00198" "00464289" "00198" "00464290" "05461" "00464291" "00198" "00464302" "00198" "00464303" "00198" "00464304" "00198" "00464305" "00198" "00464306" "00198" "00464307" "00198" "00464308" "00198" "00464309" "00198" "00464310" "00198" "00464311" "00198" "00464312" "00198" "00464313" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05461, 06115 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000350348" "06115" "00464283" "01164" "Isolated (sporadic)" "00y08m" "small for gestational age, short stature, pectus excavatum, motor delay, premature birth, intrauterine growth retardation, failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "0000350349" "00198" "00464286" "00006" "Isolated (sporadic)" "" "see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; congenital heart disease, ventricular septal defect; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly" "" "" "" "" "" "" "" "" "" "facial dysmorphisms" "" "0000350350" "00198" "00464287" "00006" "Isolated (sporadic)" "" "see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; tracheostomy; no congenital heart disease; cryptorchidism; short stature; no rhizomelic shortening; joint laxity; developmental delay; autism; seizure; no microcephaly" "" "" "" "" "" "" "" "" "" "facial dysmorphisms" "" "0000350351" "00198" "00464288" "00006" "Isolated (sporadic)" "" "see paper; ..., intrauterine growth retardation; micrognathia; no cleft palate; no tracheostomy; no congenital heart disease; no cryptorchidism; short stature; rhizomelic shortening; no joint laxity; developmental delay; no autism; no seizure; microcephaly" "" "" "" "" "" "" "" "" "" "facial dysmorphisms" "" "0000350352" "00198" "00464289" "00006" "Familial, autosomal dominant" "" "see paper; ..., intrauterine growth retardation; micrognathia; cleft palate; no tracheostomy; no congenital heart disease; short stature; rhizomelic shortening; joint laxity; developmental delay; no autism; no seizure; microcephaly" "" "" "" "" "" "" "" "" "" "facial dysmorphisms" "" "0000350353" "05461" "00464290" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "ssmg" "PGM1 deficiency" "" "0000350354" "00198" "00464291" "00006" "Isolated (sporadic)" "03y06m" "see paper; ..., microcephaly, severe global developmental delay; ventricular septal defect, patent foramen ovale, rhizomelic shortening extremities, pectus carinatum, underdeveloped genitalia (severe penoscrotal hypospadias, cryptorchidism); distinctive facial features, bulbous nasal tip, microretrognathia, downturned corners mouth" "" "" "" "" "" "" "" "" "SSMG" "microcephaly, global developmental delay" "" "0000350356" "00198" "00464302" "00006" "Isolated (sporadic)" "4y" "see paper; ..., birth 32w+5; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; no congenital heart disease; hypospadius, bifid scrotum, cryptorchidism; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; liver function abnormalities; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350357" "00198" "00464303" "00006" "Isolated (sporadic)" "3y" "see paper; ..., birth 37w+2; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; no joint laxity; no developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350358" "00198" "00464304" "00006" "Isolated (sporadic)" "9m" "see paper; ..., birth 30w+6; intrauterine growth restriction; micrognathia; microcephaly; cleft palate; no tracheostomy; congenital heart disease (patent foramen ovale vs atrial septal defect); ambiguous genitalia, hypospadius; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350359" "00198" "00464305" "00006" "Isolated (sporadic)" "3y" "see paper; ..., birth 26w+6; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; no congenital heart disease; bilateral central cortical cataract; short stature; rhizomelic shortening; no joint laxity; mild developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; giant cell hepatitis; liver function abnormalities; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350360" "00198" "00464306" "00006" "Isolated (sporadic)" "7y5m" "see paper; ..., birth 38w; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; congenital heart disease (patent foramen ovale, patent ductus arteriosus); small penis; Mittendorf dot vs posterior polar cataract; short stature; rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; no giant cell hepatitis; liver function abnormalities (due to treatment for neuromyelitis optica); no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350361" "00198" "00464307" "00006" "Isolated (sporadic)" "14y4m" "see paper; ..., birth 37w; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; joint laxity; no developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; no giant cell hepatitis; normal liver function; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350362" "00198" "00464308" "00006" "Isolated (sporadic)" "36y" "see paper; ..., birth 36w; intrauterine growth restriction; micrognathia; no microcephaly; cleft palate; no tracheostomy; no congenital heart disease; no cataract; short stature; rhizomelic shortening; no joint laxity; no developmental delay/intellectual disability; no autism; no seizure; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350363" "00198" "00464309" "00006" "Isolated (sporadic)" "2y" "see paper; ..., birth 30w; intrauterine growth restriction; micrognathia; no microcephaly; cleft palate, bifid uvula; no tracheostomy; no congenital heart disease; no cataract; short stature; no rhizomelic shortening; no joint laxity; developmental delay/intellectual disability, speech delay; no autism; no seizure; no giant cell hepatitis; liver function abnormalities; hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350364" "00198" "00464310" "00006" "Isolated (sporadic)" "15y" "see paper; ..., birth 31w+1; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; no congenital heart disease; unspecified cataract; short stature; rhizomelic shortening; developmental delay/intellectual disability; no autism; no seizure; no giant cell hepatitis; normal liver function; no hepatoblastoma" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350365" "00198" "00464311" "00006" "Unknown" "<0d" "see paper; ..., fetus; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350366" "00198" "00464312" "00006" "Unknown" "<0d" "see paper; ..., 21gw-aborted fetus; generalized decreased bone density skull, brachycephaly, narrow thorax, short narrow ribs, bilateral short upper/lower extremities, foreshortened humeri, radius, ulna, femori, and tibia; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening" "" "" "" "" "" "" "" "" "SSMG" "" "" "0000350367" "00198" "00464313" "00006" "Unknown" "<0d" "see paper; ..., 25-gw-fetal demise; shortened humeri, forearms, femurs, and tibula/fibula; micrognathia; bell-shaped thorax; intrauterine growth restriction; micrognathia; microcephaly; rhizomelic shortening" "" "" "" "" "" "" "" "" "SSMG" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000465914" "00464283" "1" "01164" "01164" "2025-02-25 12:51:08" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465917" "00464286" "1" "00006" "00006" "2025-02-28 13:47:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465918" "00464287" "1" "00006" "00006" "2025-02-28 13:47:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465919" "00464288" "1" "00006" "00006" "2025-02-28 13:47:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465920" "00464289" "1" "00006" "00006" "2025-02-28 13:47:37" "" "" "SEQ" "DNA" "" "" "0000465921" "00464290" "1" "00006" "00006" "2025-02-28 15:19:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465922" "00464291" "1" "00006" "00006" "2025-02-28 15:29:10" "00006" "2025-02-28 15:35:26" "arrayCGH;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000465924" "00464302" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465925" "00464303" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465926" "00464304" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465927" "00464305" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465928" "00464306" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465929" "00464307" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000465930" "00464308" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465931" "00464309" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "trio gene panel" "0000465932" "00464310" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465933" "00464311" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000465934" "00464312" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000465935" "00464313" "1" "00006" "00006" "2025-03-01 09:13:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000465914" "ARCN1" "0000465922" "ARCN1" ## 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 = 33 "{{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}}" "0000542615" "0" "30" "11" "118468463" "118468463" "subst" "0" "01804" "ARCN1_000001" "g.118468463A>T" "" "" "" "ARCN1(NM_001142281.1):c.1019A>T (p.(Glu340Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118597748A>T" "" "likely benign" "" "0000656715" "0" "50" "11" "118461169" "118461169" "subst" "0" "02327" "ARCN1_000002" "g.118461169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118590454G>A" "" "VUS" "" "0000804918" "0" "90" "11" "118468480" "118468480" "subst" "0" "02327" "ARCN1_000003" "g.118468480C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118597765C>T" "" "pathogenic" "" "0000862330" "0" "50" "11" "118461196" "118461196" "subst" "4.06121E-6" "02325" "ARCN1_000004" "g.118461196A>T" "" "" "" "ARCN1(NM_001655.5):c.959A>T (p.E320V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118590481A>T" "" "VUS" "" "0000889653" "0" "70" "11" "118452226" "118452226" "subst" "0" "02327" "ARCN1_000005" "g.118452226T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118581511T>C" "" "likely pathogenic" "" "0000889654" "0" "50" "11" "118454542" "118454542" "subst" "0" "02325" "ARCN1_000006" "g.118454542A>G" "" "" "" "ARCN1(NM_001655.5):c.466A>G (p.K156E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118583827A>G" "" "VUS" "" "0000979386" "0" "50" "11" "118461115" "118461115" "subst" "0" "01804" "ARCN1_000007" "g.118461115A>G" "" "" "" "ARCN1(NM_001655.5):c.878A>G (p.(Gln293Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118590400A>G" "" "VUS" "" "0000998795" "0" "30" "11" "118454645" "118454645" "subst" "0" "01804" "ARCN1_000008" "g.118454645C>T" "" "" "" "ARCN1(NM_001655.4):c.569C>T (p.(Ala190Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118583930C>T" "" "likely benign" "" "0000998796" "0" "50" "11" "118455209" "118455209" "subst" "4.11441E-6" "01804" "ARCN1_000009" "g.118455209G>A" "" "" "" "ARCN1(NM_001655.4):c.668G>A (p.(Ser223Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118584494G>A" "" "VUS" "" "0000998797" "0" "30" "11" "118461060" "118461060" "subst" "4.0703E-6" "01804" "ARCN1_000010" "g.118461060C>T" "" "" "" "ARCN1(NM_001655.4):c.823C>T (p.(His275Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118590345C>T" "" "likely benign" "" "0000998798" "0" "50" "11" "118461082" "118461082" "subst" "0" "01804" "ARCN1_000011" "g.118461082T>C" "" "" "" "ARCN1(NM_001655.4):c.845T>C (p.(Ile282Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118590367T>C" "" "VUS" "" "0000998799" "0" "50" "11" "118464356" "118464356" "subst" "0" "01804" "ARCN1_000012" "g.118464356A>G" "" "" "" "ARCN1(NM_001655.4):c.1184A>G (p.(Tyr395Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118593641A>G" "" "VUS" "" "0000998800" "0" "30" "11" "118468418" "118468418" "subst" "0" "01804" "ARCN1_000013" "g.118468418A>G" "" "" "" "ARCN1(NM_001655.4):c.1242-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118597703A>G" "" "likely benign" "" "0000998801" "0" "50" "11" "118468472" "118468472" "subst" "1.21824E-5" "01804" "ARCN1_000014" "g.118468472A>G" "" "" "" "ARCN1(NM_001655.4):c.1292A>G (p.(His431Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118597757A>G" "" "VUS" "" "0001029681" "0" "70" "11" "118452217" "118452217" "subst" "0" "01164" "ARCN1_000015" "g.118452217C>G" "" "" "" "" "variant effect is LoF on clinical relevant transcript NM_001655.5:c.260C>G p.(Ser87*); ACMG: PVS1, PS2_SUP, PS4_SUP, PM2_SUP; PMID:27476655" "De novo" "-" "" "0" "" "" "g.118581502C>G" "VCV000267209" "pathogenic (dominant)" "ACMG" "0001029700" "0" "90" "11" "118452217" "118452217" "subst" "0" "00006" "ARCN1_000020" "g.118452217C>A" "" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "" "" "" "De novo" "" "" "0" "" "" "g.118581502C>A" "" "pathogenic (dominant)" "" "0001029701" "0" "90" "11" "118454709" "118454709" "del" "0" "00006" "ARCN1_000024" "g.118454709del" "" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "" "" "" "De novo" "" "" "0" "" "" "g.118583994del" "" "pathogenic (dominant)" "" "0001029702" "0" "90" "11" "118452114" "118452115" "del" "0" "00006" "ARCN1_000018" "g.118452114_118452115del" "" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "" "" "" "De novo" "" "" "0" "" "" "g.118581399_118581400del" "" "pathogenic (dominant)" "" "0001029703" "11" "90" "11" "118452114" "118452115" "del" "0" "00006" "ARCN1_000018" "g.118452114_118452115del" "" "{PMID:Izumi 2016:27476655}, {DOI:Izumi 2016:10.1016/j.ajhg.2016.06.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.118581399_118581400del" "" "pathogenic (dominant)" "" "0001029705" "0" "90" "11" "118454006" "118454006" "dup" "0" "00006" "ARCN1_000016" "g.118454006dup" "" "{PMID:Reunert 2019:31075182}, {DOI:Reunert 2019:10.1002/ajmg.a.61190}" "" "380dupT" "" "De novo" "" "" "0" "" "" "g.118583291dup" "" "pathogenic (dominant)" "" "0001029706" "0" "90" "11" "118455180" "118455180" "subst" "0" "00006" "ARCN1_000017" "g.118455180A>G" "" "{PMID:Tidwell 2020:33154040}, {DOI:Tidwell 2020:10.1101/mcs.a005728}" "" "" "" "De novo" "" "" "0" "" "" "g.118584465A>G" "" "pathogenic (dominant)" "" "0001029710" "0" "90" "11" "118461171" "118461171" "subst" "0" "00006" "ARCN1_000025" "g.118461171C>T" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3, PP5" "De novo" "" "" "0" "" "" "g.118590456C>T" "" "pathogenic (dominant)" "" "0001029711" "0" "70" "11" "118455180" "118455180" "subst" "0" "00006" "ARCN1_000017" "g.118455180A>G" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PS3, PM2, PP5" "De novo" "" "" "0" "" "" "g.118584465A>G" "" "likely pathogenic (dominant)" "" "0001029712" "0" "90" "11" "118461171" "118461171" "subst" "0" "00006" "ARCN1_000025" "g.118461171C>T" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3, PP5" "De novo" "" "" "0" "" "" "g.118590456C>T" "" "pathogenic (dominant)" "" "0001029713" "0" "70" "11" "118452149" "118452150" "del" "0" "00006" "ARCN1_000019" "g.118452149_118452150del" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3" "De novo" "" "" "0" "" "" "g.118581434_118581435del" "" "likely pathogenic (dominant)" "" "0001029714" "0" "90" "11" "118454584" "118454584" "subst" "0" "00006" "ARCN1_000023" "g.118454584C>T" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3" "De novo" "" "" "0" "" "" "g.118583869C>T" "" "pathogenic (dominant)" "" "0001029715" "0" "90" "11" "118453931" "118453932" "ins" "0" "00006" "ARCN1_000021" "g.118453931_118453932insCTGAGAG" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3" "De novo" "" "" "0" "" "" "g.118583216_118583217insCTGAGAG" "" "pathogenic (dominant)" "" "0001029716" "0" "90" "11" "118463440" "118463440" "dup" "0" "00006" "ARCN1_000026" "g.118463440dup" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.118592725dup" "" "pathogenic (dominant)" "" "0001029717" "0" "90" "11" "118461171" "118461171" "subst" "0" "00006" "ARCN1_000025" "g.118461171C>T" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3, PP5" "De novo" "" "" "0" "" "" "g.118590456C>T" "" "pathogenic (dominant)" "" "0001029718" "0" "90" "11" "118463557" "118463558" "del" "0" "00006" "ARCN1_000027" "g.118463557_118463558del" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.118592842_118592843del" "" "pathogenic (dominant)" "" "0001029719" "0" "70" "11" "118464414" "118464414" "subst" "0" "00006" "ARCN1_000028" "g.118464414G>A" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "" "" "Unknown" "" "" "0" "" "" "g.118593699G>A" "" "likely pathogenic (dominant)" "" "0001029720" "0" "70" "11" "118453933" "118453937" "del" "0" "00006" "ARCN1_000022" "g.118453933_118453937del" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "307_311delTCTGA" "" "Unknown" "" "" "0" "" "" "g.118583218_118583222del" "" "likely pathogenic (dominant)" "" "0001029721" "0" "70" "11" "118463440" "118463440" "dup" "0" "00006" "ARCN1_000026" "g.(118463440dup)" "" "{PMID:Ritter 2022:35300924}, {DOI:Ritter 2022:10.1016/j.gim.2022.02.005}" "" "D334E*2" "" "Unknown" "" "" "0" "" "" "g.(118592725dup)" "" "likely pathogenic (dominant)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ARCN1 ## Count = 33 "{{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}}" "0000542615" "00025982" "30" "1283" "0" "1283" "0" "c.1283A>T" "r.(?)" "p.(Glu428Val)" "" "0000656715" "00025982" "50" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Gly311Asp)" "" "0000804918" "00025982" "90" "1300" "0" "1300" "0" "c.1300C>T" "r.(?)" "p.(Arg434*)" "" "0000862330" "00025982" "50" "959" "0" "959" "0" "c.959A>T" "r.(?)" "p.(Glu320Val)" "" "0000889653" "00025982" "70" "267" "2" "267" "2" "c.267+2T>C" "r.spl?" "p.?" "" "0000889654" "00025982" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Lys156Glu)" "" "0000979386" "00025982" "50" "878" "0" "878" "0" "c.878A>G" "r.(?)" "p.(Gln293Arg)" "" "0000998795" "00025982" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "" "0000998796" "00025982" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Ser223Asn)" "" "0000998797" "00025982" "30" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(His275Tyr)" "" "0000998798" "00025982" "50" "845" "0" "845" "0" "c.845T>C" "r.(?)" "p.(Ile282Thr)" "" "0000998799" "00025982" "50" "1184" "0" "1184" "0" "c.1184A>G" "r.(?)" "p.(Tyr395Cys)" "" "0000998800" "00025982" "30" "1242" "-4" "1242" "-4" "c.1242-4A>G" "r.spl?" "p.?" "" "0000998801" "00025982" "50" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(His431Arg)" "" "0001029681" "00025982" "70" "260" "0" "260" "0" "c.260C>G" "r.(?)" "p.(Ser87Ter)" "" "0001029700" "00025982" "90" "260" "0" "260" "0" "c.260C>A" "r.(?)" "p.(Ser87Ter)" "" "0001029701" "00025982" "90" "633" "0" "633" "0" "c.633del" "r.(?)" "p.(Val212TrpfsTer15)" "" "0001029702" "00025982" "90" "157" "0" "158" "0" "c.157_158del" "r.(?)" "p.(Ser53CysfsTer39)" "" "0001029703" "00025982" "90" "157" "0" "158" "0" "c.157_158del" "r.(?)" "p.(Ser53CysfsTer39)" "" "0001029705" "00025982" "90" "380" "0" "380" "0" "c.380dup" "r.(?)" "p.(Leu127PhefsTer14)" "" "0001029706" "00025982" "90" "654" "-15" "654" "-15" "c.654-15A>G" "r.653_654ins654-14_654-1" "p.Pro219PhefsTer13" "" "0001029710" "00025982" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Ter)" "" "0001029711" "00025982" "70" "654" "-15" "654" "-15" "c.654-15A>G" "r.spl" "p.?" "" "0001029712" "00025982" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Ter)" "" "0001029713" "00025982" "70" "192" "0" "193" "0" "c.192_193del" "r.(?)" "p.(Met66GlyfsTer26)" "" "0001029714" "00025982" "90" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Ter)" "" "0001029715" "00025982" "90" "305" "0" "306" "0" "c.305_306insCTGAGAG" "r.(?)" "p.(Ser103Ter)" "" "0001029716" "00025982" "90" "1001" "0" "1001" "0" "c.1001dup" "r.(?)" "p.(Asp334GlufsTer2)" "" "0001029717" "00025982" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Ter)" "" "0001029718" "00025982" "90" "1118" "0" "1119" "0" "c.1118_1119del" "r.(?)" "p.(Phe373TyrfsTer6)" "" "0001029719" "00025982" "70" "1241" "1" "1241" "1" "c.1241+1G>A" "r.spl" "p.?" "" "0001029720" "00025982" "70" "307" "0" "311" "0" "c.307_311del" "r.(?)" "p.(Ser103AlafsTer4)" "" "0001029721" "00025982" "70" "1001" "0" "1001" "0" "c.(1001dup)" "r.(?)" "p.(Asp334GlufsTer2)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000465914" "0001029681" "0000465917" "0001029700" "0000465918" "0001029701" "0000465919" "0001029702" "0000465920" "0001029703" "0000465921" "0001029705" "0000465922" "0001029706" "0000465924" "0001029710" "0000465925" "0001029711" "0000465926" "0001029712" "0000465927" "0001029713" "0000465928" "0001029714" "0000465929" "0001029715" "0000465930" "0001029716" "0000465931" "0001029717" "0000465932" "0001029718" "0000465933" "0001029719" "0000465934" "0001029720" "0000465935" "0001029721"