### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCD1) # 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}}" "SMARCD1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1" "12" "q13-q14" "unknown" "NC_000012.11" "UD_132319621195" "" "https://www.LOVD.nl/SMARCD1" "" "1" "11106" "6602" "601735" "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/SMARCD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-22 08:53:26" "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}}" "00019426" "SMARCD1" "transcript variant 1" "001" "NM_003076.4" "" "NP_003067.3" "" "" "" "-170" "3259" "1548" "50478983" "50494494" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05797" "CSS11" "Coffin-Siris syndrome, type 11 (CSS11)" "AD" "618779" "" "" "" "00006" "2020-07-25 09:07:00" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SMARCD1" "05797" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00228226" "" "" "" "1" "" "00006" "{PMID:Nixon 2019:30879640}" "" "F" "" "Japan" "" "0" "" "" "" "Pat1" "00228227" "" "" "" "1" "" "00006" "{PMID:Nixon 2019:30879640}" "" "M" "" "France" "" "0" "" "" "" "Pat2" "00228228" "" "" "" "1" "" "00006" "{PMID:Nixon 2019:30879640}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3" "00228229" "" "" "" "1" "" "00006" "{PMID:Nixon 2019:30879640}" "" "M" "" "Northern Ireland" "" "0" "" "" "white" "Pat4" "00228230" "" "" "" "1" "" "00006" "{PMID:Nixon 2019:30879640}" "" "F" "" "United States" "" "0" "" "" "European;Germany" "Pat5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00228226" "00198" "00228227" "00198" "00228228" "00198" "00228229" "00198" "00228230" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05797 ## Count = 5 "{{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}}" "0000172156" "00198" "00228226" "00006" "Isolated (sporadic)" "07y" "see paper; ..., developmental delay, delayed walking, intellectual disability, hypotonia, esophageal atresia, bronchial fistula,feeding and sucking difficulties, sparse hair, external ear malformation, hearing loss, malformation of ossicle, hypoplastic fifth toenails, no teeth anomalies, high palate, cleft soft palate" "" "" "" "" "" "" "" "" "" "DD/ID" "" "0000172157" "00198" "00228227" "00006" "Isolated (sporadic)" "11y06m" "see paper; ..., developmental delay, delayed walking (17m), delayed speech (sentences), intellectual disability, no hypotonia, agenesis corpus callosum, macrosomia; MRI 1m complete agenesis corpus callosum; tube feeding during first 2w, no problem after; low hairline, upturned, thick ear lobes, no hearing loss, short hands, slender fingers, no teeth anomalies" "" "" "" "" "" "" "" "" "" "DD/ID" "" "0000172158" "00198" "00228228" "00006" "Isolated (sporadic)" "06y03m" "see paper; ..., developmental delay, delayed walking (2y), speech not attained (some sign\r\nlanguage), intellectual disability, hypotonia, ankyloglossia (operated), MRI-brain normal, slow feeder (slow with milk and solids), gastroesophageal reflux, low hairline, upturned earlobes, mild bilateral hearing loss, small hands and feet; small, rounded teeth, pointed canines; frontal bossing, long eyebrows, plagiocephaly" "" "" "" "" "" "" "" "" "" "DD/ID" "" "0000172159" "00198" "00228229" "00006" "Isolated (sporadic)" "03y" "see paper; ..., developmental delay, walking not attained, speech not attained, intellectual disability, hypotonia; mild hydronephrosis on antenatal USS; MRI-brain several normalities; ongoing, nasogastric feeding\r\nfollowed by fundoplication and PEG tube, gastroesophageal reflux; temporal hair deficiency; ears low-set, thickened, simple shape; no hearing loss; thick, loose palmar and plantar skin, small hands and feet, short fifth fingers; thick, stubby teeth, delayed eruption, thick gums; broad, square face; temporal narrowing; flat nasal bridge; short nose; very prominent philtral pillars; hypertelorism, divergent squint; wide mouth with downturned corners; thick gums; high palate; \"jowly\", myopathic appearance; undescended testes" "" "" "" "" "" "" "" "" "" "DD/ID" "" "0000172160" "00198" "00228230" "00006" "Isolated (sporadic)" "02y03m" "see paper; ..., developmental delay, 15m-walking, delayed speech (18m-words, 27m 2-3 word phrases), no hypotonia; 22m MRI-brain nonspecific, small right frontal subcortical white matter FLAIR hyperintensity; gastroesophageal reflux in infancy, difficulty with regulating self-feeding; normal hair, normal ears; no hearing loss; normal hands/feet; no teeth anomalies; prominent metopic suture, bulbous nasal tip, bifid uvula with normal palate, facial asymmetry" "" "" "" "" "" "" "" "" "" "DD/ID" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000229316" "00228226" "1" "00006" "00006" "2019-03-22 09:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000229317" "00228227" "1" "00006" "00006" "2019-03-22 09:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000229318" "00228228" "1" "00006" "00006" "2019-03-22 09:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000229319" "00228229" "1" "00006" "00006" "2019-03-22 09:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000229320" "00228230" "1" "00006" "00006" "2019-03-22 09:01:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000229316" "SMARCD1" "0000229317" "SMARCD1" "0000229318" "SMARCD1" "0000229319" "SMARCD1" "0000229320" "SMARCD1" ## 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 = 66 "{{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}}" "0000322846" "0" "30" "12" "50482423" "50482423" "subst" "0" "01804" "SMARCD1_000001" "g.50482423G>A" "" "" "" "SMARCD1(NM_003076.4):c.771+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50088640G>A" "" "likely benign" "" "0000322847" "0" "50" "12" "50492589" "50492589" "subst" "0" "01804" "SMARCD1_000002" "g.50492589C>G" "" "" "" "SMARCD1(NM_003076.4):c.1485C>G (p.(Phe495Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50098806C>G" "" "VUS" "" "0000470501" "1" "90" "12" "50484140" "50484140" "subst" "0" "00006" "SMARCD1_000003" "g.50484140C>G" "" "{PMID:Nixon 2019:30879640}" "" "" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.50090357C>G" "" "pathogenic (dominant)" "" "0000470502" "1" "90" "12" "50490699" "50490699" "subst" "0" "00006" "SMARCD1_000004" "g.50490699A>G" "" "{PMID:Nixon 2019:30879640}" "" "" "" "De novo" "" "" "0" "" "" "g.50096916A>G" "" "pathogenic (dominant)" "" "0000470503" "1" "90" "12" "50492561" "50492561" "subst" "0" "00006" "SMARCD1_000005" "g.50492561G>A" "" "{PMID:Nixon 2019:30879640}" "" "" "" "De novo" "" "" "0" "" "" "g.50098778G>A" "" "pathogenic (dominant)" "" "0000470504" "1" "90" "12" "50492587" "50492587" "subst" "0" "00006" "SMARCD1_000006" "g.50492587T>C" "" "{PMID:Nixon 2019:30879640}" "" "" "" "De novo" "" "" "0" "" "" "g.50098804T>C" "" "pathogenic (dominant)" "" "0000470505" "1" "90" "12" "50492742" "50492742" "subst" "0" "00006" "SMARCD1_000007" "g.50492742C>T" "" "{PMID:Nixon 2019:30879640}" "" "" "" "De novo" "" "" "0" "" "" "g.50098959C>T" "" "pathogenic (dominant)" "" "0000548433" "0" "30" "12" "50474409" "50474409" "subst" "0.00171777" "01804" "ASIC1_000002" "g.50474409A>G" "" "" "" "ASIC1(NM_020039.3):c.1334A>G (p.(His445Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50080626A>G" "" "likely benign" "" "0000548434" "0" "30" "12" "50497834" "50497834" "subst" "0.000284282" "01804" "SMARCD1_000008" "g.50497834A>G" "" "" "" "GPD1(NM_001257199.1):c.1A>G (p.(Met1?)), GPD1(NM_005276.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104051A>G" "" "likely benign" "" "0000614210" "0" "30" "12" "50498119" "50498119" "subst" "0" "02330" "SMARCD1_000009" "g.50498119G>A" "" "" "" "GPD1(NM_005276.4):c.42-238G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104336G>A" "" "likely benign" "" "0000614211" "0" "10" "12" "50498139" "50498139" "subst" "0" "02330" "SMARCD1_000010" "g.50498139T>G" "" "" "" "GPD1(NM_005276.4):c.42-218T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104356T>G" "" "benign" "" "0000614212" "0" "30" "12" "50498369" "50498369" "subst" "2.03379E-5" "02330" "SMARCD1_000011" "g.50498369C>T" "" "" "" "GPD1(NM_005276.4):c.54C>T (p.I18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104586C>T" "" "likely benign" "" "0000614213" "0" "50" "12" "50498376" "50498382" "del" "0" "02330" "SMARCD1_000012" "g.50498376_50498382del" "" "" "" "GPD1(NM_005276.4):c.61_67delATCGTGG (p.I21Vfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104593_50104599del" "" "VUS" "" "0000614214" "0" "50" "12" "50498404" "50498405" "ins" "0" "01804" "SMARCD1_000013" "g.50498404_50498405insCT" "" "" "" "GPD1(NM_001257199.1):c.89_90insCT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104621_50104622insCT" "" "VUS" "" "0000614215" "0" "50" "12" "50498405" "50498406" "ins" "0" "01804" "SMARCD1_000014" "g.50498405_50498406insTTTGTCTACCCAATAAAGCGTGTTTTTTC" "" "" "" "GPD1(NM_001257199.1):c.90_91insTTTGTCTACCCAATAAAGCGTGTTTTTTC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104622_50104623insTTTGTCTACCCAATAAAGCGTGTTTTTTC" "" "VUS" "" "0000614216" "0" "70" "12" "50498406" "50498406" "subst" "8.12348E-6" "02330" "SMARCD1_000015" "g.50498406C>T" "" "" "" "GPD1(NM_005276.4):c.91C>T (p.Q31*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104623C>T" "" "likely pathogenic" "" "0000614217" "0" "30" "12" "50498420" "50498420" "subst" "0.000105588" "02330" "COX14_000008" "g.50498420G>A" "" "" "" "GPD1(NM_005276.4):c.105G>A (p.R35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104637G>A" "" "likely benign" "" "0000614218" "0" "30" "12" "50498449" "50498449" "subst" "1.62435E-5" "02330" "COX14_000009" "g.50498449T>C" "" "" "" "GPD1(NM_005276.4):c.134T>C (p.I45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104666T>C" "" "likely benign" "" "0000614219" "0" "30" "12" "50498475" "50498475" "subst" "0.00324884" "02330" "COX14_000011" "g.50498475A>G" "" "" "" "GPD1(NM_005276.4):c.160A>G (p.I54V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104692A>G" "" "likely benign" "" "0000614220" "0" "30" "12" "50498554" "50498554" "subst" "0.000712682" "02330" "COX14_000012" "g.50498554G>A" "" "" "" "GPD1(NM_005276.4):c.219+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104771G>A" "" "likely benign" "" "0000614221" "0" "50" "12" "50499347" "50499347" "subst" "0.000235807" "02330" "COX14_000001" "g.50499347T>G" "" "" "" "GPD1(NM_005276.3):c.236T>G (p.V79G), GPD1(NM_005276.4):c.236T>G (p.V79G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50105564T>G" "" "VUS" "" "0000614222" "0" "30" "12" "50499447" "50499447" "subst" "2.84368E-5" "02330" "COX14_000013" "g.50499447C>T" "" "" "" "GPD1(NM_005276.4):c.336C>T (p.N112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50105664C>T" "" "likely benign" "" "0000622918" "0" "50" "12" "50497834" "50497834" "subst" "0.000284282" "02330" "SMARCD1_000008" "g.50497834A>G" "" "" "" "GPD1(NM_001257199.1):c.1A>G (p.(Met1?)), GPD1(NM_005276.4):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104051A>G" "" "VUS" "" "0000622919" "0" "30" "12" "50498474" "50498474" "subst" "0.00175433" "02330" "COX14_000010" "g.50498474C>A" "" "" "" "GPD1(NM_005276.4):c.159C>A (p.I53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104691C>A" "" "likely benign" "" "0000657121" "0" "50" "12" "50498482" "50498482" "subst" "2.03049E-5" "02330" "COX14_000036" "g.50498482C>G" "" "" "" "GPD1(NM_005276.4):c.167C>G (p.T56R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50104699C>G" "" "VUS" "" "0000657122" "0" "30" "12" "50498806" "50498806" "subst" "0" "02330" "COX14_000037" "g.50498806T>A" "" "" "" "GPD1(NM_005276.4):c.219+272T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50105023T>A" "" "likely benign" "" "0000657123" "0" "30" "12" "50499405" "50499405" "subst" "1.21844E-5" "02330" "COX14_000038" "g.50499405C>T" "" "" "" "GPD1(NM_005276.4):c.294C>T (p.I98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50105622C>T" "" "likely benign" "" "0000679566" "0" "30" "12" "50497869" "50497869" "subst" "0" "02330" "SMARCD1_000016" "g.50497869G>A" "" "" "" "GPD1(NM_005276.4):c.36G>A (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679567" "0" "30" "12" "50499450" "50499450" "subst" "8.1248E-5" "02330" "COX14_000053" "g.50499450C>T" "" "" "" "GPD1(NM_005276.4):c.339C>T (p.A113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691359" "0" "50" "12" "50497826" "50497826" "subst" "2.03089E-5" "02330" "SMARCD1_000017" "g.50497826G>A" "" "" "" "GPD1(NM_005276.4):c.-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691360" "0" "30" "12" "50498148" "50498148" "subst" "0.00673187" "02330" "SMARCD1_000018" "g.50498148C>A" "" "" "" "GPD1(NM_005276.4):c.42-209C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691361" "0" "30" "12" "50499490" "50499490" "subst" "4.07037E-6" "02330" "COX14_000059" "g.50499490T>C" "" "" "" "GPD1(NM_005276.4):c.360+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724100" "0" "30" "12" "50499016" "50499016" "subst" "0" "02330" "COX14_000062" "g.50499016A>G" "" "" "" "GPD1(NM_005276.4):c.220-315A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724101" "0" "50" "12" "50499347" "50499347" "subst" "0.000235807" "01943" "COX14_000001" "g.50499347T>G" "" "" "" "GPD1(NM_005276.3):c.236T>G (p.V79G), GPD1(NM_005276.4):c.236T>G (p.V79G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805792" "0" "30" "12" "50497828" "50497828" "subst" "0.000146223" "02330" "SMARCD1_000019" "g.50497828G>A" "" "" "" "GPD1(NM_005276.4):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805793" "0" "50" "12" "50497870" "50497870" "subst" "0" "02330" "SMARCD1_000020" "g.50497870A>G" "" "" "" "GPD1(NM_005276.4):c.37A>G (p.N13D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805794" "0" "50" "12" "50499464" "50499464" "subst" "0" "02330" "COX14_000077" "g.50499464T>C" "" "" "" "GPD1(NM_005276.4):c.353T>C (p.L118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853426" "0" "30" "12" "50497872" "50497872" "subst" "8.12196E-6" "02330" "SMARCD1_000021" "g.50497872C>T" "" "" "" "GPD1(NM_005276.4):c.39C>T (p.N13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853427" "0" "50" "12" "50497891" "50497891" "subst" "8.12315E-5" "02330" "SMARCD1_000022" "g.50497891A>G" "" "" "" "GPD1(NM_005276.4):c.41+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863025" "0" "30" "12" "50498363" "50498363" "subst" "0" "02330" "SMARCD1_000023" "g.50498363A>T" "" "" "" "GPD1(NM_005276.4):c.48A>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863026" "0" "30" "12" "50498520" "50498520" "subst" "0.000150419" "01943" "COX14_000087" "g.50498520T>C" "" "" "" "GPD1(NM_005276.3):c.205T>C (p.L69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890640" "0" "50" "12" "50497817" "50497817" "subst" "0" "02330" "SMARCD1_000024" "g.50497817G>C" "" "" "" "GPD1(NM_005276.4):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890641" "0" "50" "12" "50498412" "50498412" "subst" "0.000113715" "02330" "SMARCD1_000025" "g.50498412G>A" "" "" "" "GPD1(NM_005276.4):c.97G>A (p.D33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890642" "0" "30" "12" "50498492" "50498492" "subst" "1.21839E-5" "02330" "COX14_000093" "g.50498492G>A" "" "" "" "GPD1(NM_005276.4):c.177G>A (p.E59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890643" "0" "50" "12" "50499364" "50499364" "subst" "0" "02330" "COX14_000094" "g.50499364G>C" "" "" "" "GPD1(NM_005276.4):c.253G>C (p.D85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890644" "0" "50" "12" "50499448" "50499448" "subst" "8.12526E-6" "02330" "COX14_000095" "g.50499448G>A" "" "" "" "GPD1(NM_005276.4):c.337G>A (p.A113T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913871" "0" "50" "12" "50498353" "50498353" "subst" "0" "02330" "SMARCD1_000026" "g.50498353C>G" "" "" "" "GPD1(NM_005276.4):c.42-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913872" "0" "50" "12" "50499344" "50499344" "subst" "0" "02330" "COX14_000102" "g.50499344A>C" "" "" "" "GPD1(NM_005276.4):c.233A>C (p.D78A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925647" "0" "10" "12" "50498965" "50498965" "subst" "0" "02330" "COX14_000104" "g.50498965C>A" "" "" "" "GPD1(NM_005276.4):c.220-366C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949981" "0" "50" "12" "50499467" "50499469" "del" "0" "02330" "COX14_000108" "g.50499467_50499469del" "" "" "" "GPD1(NM_005276.4):c.356_358delTTA (p.I119del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966952" "0" "50" "12" "50497825" "50497825" "subst" "0" "02330" "SMARCD1_000027" "g.50497825C>T" "" "" "" "GPD1(NM_005276.4):c.-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980333" "0" "30" "12" "50480455" "50480455" "subst" "1.62477E-5" "01804" "ASIC1_000004" "g.50480455A>G" "" "" "" "SMARCD1(NM_003076.5):c.408+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980334" "0" "50" "12" "50497873" "50497873" "subst" "0" "02330" "SMARCD1_000028" "g.50497873T>C" "" "" "" "GPD1(NM_005276.4):c.40T>C (p.W14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000170" "0" "30" "12" "50479165" "50479165" "subst" "0" "01804" "ASIC1_000005" "g.50479165G>A" "" "" "" "SMARCD1(NM_003076.4):c.13G>A (p.(Ala5Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000171" "0" "30" "12" "50479180" "50479180" "subst" "0" "01804" "ASIC1_000006" "g.50479180G>C" "" "" "" "SMARCD1(NM_003076.4):c.28G>C (p.(Val10Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000172" "0" "30" "12" "50479241" "50479241" "subst" "0" "01804" "ASIC1_000007" "g.50479241C>T" "" "" "" "SMARCD1(NM_003076.4):c.89C>T (p.(Pro30Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000173" "0" "50" "12" "50479294" "50479294" "subst" "0" "01804" "ASIC1_000008" "g.50479294C>G" "" "" "" "SMARCD1(NM_003076.4):c.142C>G (p.(Leu48Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000174" "0" "50" "12" "50479295" "50479295" "dup" "0" "01804" "ASIC1_000009" "g.50479295dup" "" "" "" "SMARCD1(NM_003076.4):c.143dupT (p.(Tyr49fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000175" "0" "30" "12" "50479301" "50479301" "subst" "0" "01804" "ASIC1_000010" "g.50479301G>T" "" "" "" "SMARCD1(NM_003076.4):c.149G>T (p.(Arg50Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000176" "0" "50" "12" "50492534" "50492534" "subst" "8.12354E-6" "01804" "SMARCD1_000029" "g.50492534G>A" "" "" "" "SMARCD1(NM_003076.4):c.1430G>A (p.(Arg477His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000177" "0" "50" "12" "50498419" "50498419" "subst" "1.62452E-5" "02330" "COX14_000114" "g.50498419G>A" "" "" "" "GPD1(NM_005276.4):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014987" "0" "50" "12" "50498458" "50498458" "subst" "0.000227411" "02330" "COX14_000116" "g.50498458A>T" "" "" "" "GPD1(NM_005276.4):c.143A>T (p.K48I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014988" "0" "50" "12" "50498532" "50498532" "subst" "0" "02330" "COX14_000117" "g.50498532G>A" "" "" "" "GPD1(NM_005276.4):c.217G>A (p.V73M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014989" "0" "50" "12" "50499348" "50499350" "del" "0" "02330" "COX14_000118" "g.50499348_50499350del" "" "" "" "GPD1(NM_005276.4):c.237_239delGGT (p.V80del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026194" "0" "30" "12" "50499426" "50499426" "subst" "9.74746E-5" "02330" "COX14_000120" "g.50499426C>G" "" "" "" "GPD1(NM_005276.4):c.315C>G (p.L105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039305" "0" "30" "12" "50492607" "50492607" "subst" "2.03089E-5" "01804" "SMARCD1_000030" "g.50492607A>G" "" "" "" "SMARCD1(NM_003076.5):c.1494+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SMARCD1 ## Count = 66 "{{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}}" "0000322846" "00019426" "30" "771" "3" "771" "3" "c.771+3G>A" "r.spl?" "p.?" "" "0000322847" "00019426" "50" "1485" "0" "1485" "0" "c.1485C>G" "r.(?)" "p.(Phe495Leu)" "" "0000470501" "00019426" "90" "990" "0" "990" "0" "c.990C>G" "r.(?)" "p.(Asp330Glu)" "" "0000470502" "00019426" "90" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Arg446Gly)" "" "0000470503" "00019426" "90" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Trp486*)" "" "0000470504" "00019426" "90" "1483" "0" "1483" "0" "c.1483T>C" "r.(?)" "p.(Phe495Leu)" "" "0000470505" "00019426" "90" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503*)" "" "0000548433" "00019426" "30" "-4744" "0" "-4744" "0" "c.-4744A>G" "r.(?)" "p.(=)" "" "0000548434" "00019426" "30" "6599" "0" "6599" "0" "c.*5051A>G" "r.(=)" "p.(=)" "" "0000614210" "00019426" "30" "6884" "0" "6884" "0" "c.*5336G>A" "r.(=)" "p.(=)" "" "0000614211" "00019426" "10" "6904" "0" "6904" "0" "c.*5356T>G" "r.(=)" "p.(=)" "" "0000614212" "00019426" "30" "7134" "0" "7134" "0" "c.*5586C>T" "r.(=)" "p.(=)" "" "0000614213" "00019426" "50" "7141" "0" "7147" "0" "c.*5593_*5599del" "r.(=)" "p.(=)" "" "0000614214" "00019426" "50" "7169" "0" "7170" "0" "c.*5621_*5622insCT" "r.(=)" "p.(=)" "" "0000614215" "00019426" "50" "7170" "0" "7171" "0" "c.*5622_*5623insTTTGTCTACCCAATAAAGCGTGTTTTTTC" "r.(=)" "p.(=)" "" "0000614216" "00019426" "70" "7171" "0" "7171" "0" "c.*5623C>T" "r.(=)" "p.(=)" "" "0000614217" "00019426" "30" "7185" "0" "7185" "0" "c.*5637G>A" "r.(=)" "p.(=)" "" "0000614218" "00019426" "30" "7214" "0" "7214" "0" "c.*5666T>C" "r.(=)" "p.(=)" "" "0000614219" "00019426" "30" "7240" "0" "7240" "0" "c.*5692A>G" "r.(=)" "p.(=)" "" "0000614220" "00019426" "30" "7319" "0" "7319" "0" "c.*5771G>A" "r.(=)" "p.(=)" "" "0000614221" "00019426" "50" "8112" "0" "8112" "0" "c.*6564T>G" "r.(=)" "p.(=)" "" "0000614222" "00019426" "30" "8212" "0" "8212" "0" "c.*6664C>T" "r.(=)" "p.(=)" "" "0000622918" "00019426" "50" "6599" "0" "6599" "0" "c.*5051A>G" "r.(=)" "p.(=)" "" "0000622919" "00019426" "30" "7239" "0" "7239" "0" "c.*5691C>A" "r.(=)" "p.(=)" "" "0000657121" "00019426" "50" "7247" "0" "7247" "0" "c.*5699C>G" "r.(=)" "p.(=)" "" "0000657122" "00019426" "30" "7571" "0" "7571" "0" "c.*6023T>A" "r.(=)" "p.(=)" "" "0000657123" "00019426" "30" "8170" "0" "8170" "0" "c.*6622C>T" "r.(=)" "p.(=)" "" "0000679566" "00019426" "30" "6634" "0" "6634" "0" "c.*5086G>A" "r.(=)" "p.(=)" "" "0000679567" "00019426" "30" "8215" "0" "8215" "0" "c.*6667C>T" "r.(=)" "p.(=)" "" "0000691359" "00019426" "50" "6591" "0" "6591" "0" "c.*5043G>A" "r.(=)" "p.(=)" "" "0000691360" "00019426" "30" "6913" "0" "6913" "0" "c.*5365C>A" "r.(=)" "p.(=)" "" "0000691361" "00019426" "30" "8255" "0" "8255" "0" "c.*6707T>C" "r.(=)" "p.(=)" "" "0000724100" "00019426" "30" "7781" "0" "7781" "0" "c.*6233A>G" "r.(=)" "p.(=)" "" "0000724101" "00019426" "50" "8112" "0" "8112" "0" "c.*6564T>G" "r.(=)" "p.(=)" "" "0000805792" "00019426" "30" "6593" "0" "6593" "0" "c.*5045G>A" "r.(=)" "p.(=)" "" "0000805793" "00019426" "50" "6635" "0" "6635" "0" "c.*5087A>G" "r.(=)" "p.(=)" "" "0000805794" "00019426" "50" "8229" "0" "8229" "0" "c.*6681T>C" "r.(=)" "p.(=)" "" "0000853426" "00019426" "30" "6637" "0" "6637" "0" "c.*5089C>T" "r.(=)" "p.(=)" "" "0000853427" "00019426" "50" "6656" "0" "6656" "0" "c.*5108A>G" "r.(=)" "p.(=)" "" "0000863025" "00019426" "30" "7128" "0" "7128" "0" "c.*5580A>T" "r.(=)" "p.(=)" "" "0000863026" "00019426" "30" "7285" "0" "7285" "0" "c.*5737T>C" "r.(=)" "p.(=)" "" "0000890640" "00019426" "50" "6582" "0" "6582" "0" "c.*5034G>C" "r.(=)" "p.(=)" "" "0000890641" "00019426" "50" "7177" "0" "7177" "0" "c.*5629G>A" "r.(=)" "p.(=)" "" "0000890642" "00019426" "30" "7257" "0" "7257" "0" "c.*5709G>A" "r.(=)" "p.(=)" "" "0000890643" "00019426" "50" "8129" "0" "8129" "0" "c.*6581G>C" "r.(=)" "p.(=)" "" "0000890644" "00019426" "50" "8213" "0" "8213" "0" "c.*6665G>A" "r.(=)" "p.(=)" "" "0000913871" "00019426" "50" "7118" "0" "7118" "0" "c.*5570C>G" "r.(=)" "p.(=)" "" "0000913872" "00019426" "50" "8109" "0" "8109" "0" "c.*6561A>C" "r.(=)" "p.(=)" "" "0000925647" "00019426" "10" "7730" "0" "7730" "0" "c.*6182C>A" "r.(=)" "p.(=)" "" "0000949981" "00019426" "50" "8232" "0" "8234" "0" "c.*6684_*6686del" "r.(=)" "p.(=)" "" "0000966952" "00019426" "50" "6590" "0" "6590" "0" "c.*5042C>T" "r.(=)" "p.(=)" "" "0000980333" "00019426" "30" "408" "9" "408" "9" "c.408+9A>G" "r.(=)" "p.(=)" "" "0000980334" "00019426" "50" "6638" "0" "6638" "0" "c.*5090T>C" "r.(=)" "p.(=)" "" "0001000170" "00019426" "30" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Ala5Thr)" "" "0001000171" "00019426" "30" "28" "0" "28" "0" "c.28G>C" "r.(?)" "p.(Val10Leu)" "" "0001000172" "00019426" "30" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Pro30Leu)" "" "0001000173" "00019426" "50" "142" "0" "142" "0" "c.142C>G" "r.(?)" "p.(Leu48Val)" "" "0001000174" "00019426" "50" "143" "0" "143" "0" "c.143dup" "r.(?)" "p.(Tyr49Valfs*82)" "" "0001000175" "00019426" "30" "149" "0" "149" "0" "c.149G>T" "r.(?)" "p.(Arg50Leu)" "" "0001000176" "00019426" "50" "1430" "0" "1430" "0" "c.1430G>A" "r.(?)" "p.(Arg477His)" "" "0001000177" "00019426" "50" "7184" "0" "7184" "0" "c.*5636G>A" "r.(=)" "p.(=)" "" "0001014987" "00019426" "50" "7223" "0" "7223" "0" "c.*5675A>T" "r.(=)" "p.(=)" "" "0001014988" "00019426" "50" "7297" "0" "7297" "0" "c.*5749G>A" "r.(=)" "p.(=)" "" "0001014989" "00019426" "50" "8113" "0" "8115" "0" "c.*6565_*6567del" "r.(=)" "p.(=)" "" "0001026194" "00019426" "30" "8191" "0" "8191" "0" "c.*6643C>G" "r.(=)" "p.(=)" "" "0001039305" "00019426" "30" "1494" "9" "1494" "9" "c.1494+9A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000229316" "0000470501" "0000229317" "0000470502" "0000229318" "0000470503" "0000229319" "0000470504" "0000229320" "0000470505"