### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SVIL) # 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}}" "SVIL" "supervillin" "10" "p11.2" "unknown" "NG_033998.1" "UD_132319310259" "" "https://www.LOVD.nl/SVIL" "" "1" "11480" "6840" "604126" "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/SVIL_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2018-01-12 19:17:27" "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}}" "00025527" "SVIL" "transcript variant 2" "006" "NM_021738.2" "" "NP_068506.2" "" "" "" "-753" "7544" "6645" "29923901" "29746277" "00006" "2020-06-12 16:37:05" "" "" ## 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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00150222" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3491" "00303448" "" "" "" "2" "" "00006" "Hedberg-Oldfors ESHG2020 C20.4" "2-generation family, 2 affected male sibs, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam1PatIII1/4" "00303449" "" "" "" "2" "" "00006" "Hedberg-Oldfors ESHG2020 C20.4" "4-generation family, 2 affected sibs (F, M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "Fam2PatIII2/3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00150222" "00198" "00303448" "00244" "00303449" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01157 ## Count = 4 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000122624" "00198" "00150222" "00006" "Unknown" "" "intellectual diability, hypotonia, heterotopia, NTD, pes equinovarus" "" "" "" "" "" "" "" "" "" "" "" "0000230528" "00244" "00303448" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230529" "00244" "00303449" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000151077" "00150222" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000304577" "00303448" "1" "00006" "00006" "2020-06-12 16:31:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304578" "00303449" "1" "00006" "00006" "2020-06-12 16:44:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000151077" "SVIL" "0000304577" "SVIL" "0000304578" "SVIL" ## 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 = 19 "{{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}}" "0000004824" "3" "30" "10" "29933714" "29933714" "subst" "0" "00037" "SVIL_000001" "g.29933714C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.29644785C>T" "" "likely benign" "" "0000244245" "3" "90" "10" "29788083" "29788083" "subst" "3.26787E-5" "00006" "SVIL_000002" "g.29788083G>A" "" "{PMID:Karaca 2015:26539891}" "" "" "" "Germline" "" "" "0" "" "" "g.29499154G>A" "" "pathogenic (recessive)" "" "0000253534" "0" "10" "10" "29754603" "29754603" "subst" "0.00126843" "01943" "SVIL_000003" "g.29754603A>G" "" "" "" "SVIL(NM_021738.2):c.6054T>C (p.F2018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29465674A>G" "" "benign" "" "0000253603" "0" "10" "10" "29779847" "29779847" "subst" "0" "01943" "SVIL_000006" "g.29779847A>C" "" "" "" "SVIL(NM_021738.2):c.4121T>G (p.L1374R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29490918A>C" "" "benign" "" "0000315942" "0" "50" "10" "29818695" "29818695" "subst" "3.25722E-5" "01943" "SVIL_000007" "g.29818695G>A" "" "" "" "SVIL(NM_021738.2):c.2185C>T (p.R729C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29529766G>A" "" "VUS" "" "0000315943" "0" "10" "10" "29776191" "29776191" "subst" "0.00179153" "01943" "SVIL_000005" "g.29776191T>C" "" "" "" "SVIL(NM_021738.2):c.4386A>G (p.R1462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29487262T>C" "" "benign" "" "0000315944" "0" "30" "10" "29769705" "29769705" "subst" "0.00117632" "01943" "SVIL_000004" "g.29769705G>A" "" "" "" "SVIL(NM_021738.2):c.5138C>T (p.T1713I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29480776G>A" "" "likely benign" "" "0000315945" "0" "30" "10" "29824956" "29824956" "subst" "0.00291968" "01943" "SVIL_000008" "g.29824956G>A" "" "" "" "SVIL(NM_021738.2):c.870C>T (p.S290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.29536027G>A" "" "likely benign" "" "0000539837" "0" "50" "10" "29769501" "29769501" "subst" "2.43714E-5" "01804" "SVIL_000009" "g.29769501T>C" "" "" "" "SVIL(NM_003174.3):c.4064A>G (p.(Tyr1355Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29480572T>C" "" "VUS" "" "0000539838" "0" "30" "10" "29776116" "29776116" "subst" "0.000828992" "01943" "SVIL_000010" "g.29776116A>G" "" "" "" "SVIL(NM_021738.2):c.4461T>C (p.F1487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29487187A>G" "" "likely benign" "" "0000539839" "0" "10" "10" "29777637" "29777637" "subst" "0.00140979" "01943" "SVIL_000011" "g.29777637C>G" "" "" "" "SVIL(NM_021738.2):c.4241G>C (p.S1414T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29488708C>G" "" "benign" "" "0000612452" "0" "50" "10" "29813538" "29813538" "subst" "5.27914E-5" "01943" "SVIL_000012" "g.29813538C>T" "" "" "" "SVIL(NM_021738.2):c.2449G>A (p.E817K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29524609C>T" "" "VUS" "" "0000612453" "0" "30" "10" "29822026" "29822026" "subst" "0.00011012" "01943" "SVIL_000013" "g.29822026C>T" "" "" "" "SVIL(NM_021738.2):c.1270G>A (p.E424K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.29533097C>T" "" "likely benign" "" "0000668048" "3" "90" "10" "29773728" "29773728" "subst" "0" "00006" "SVIL_000014" "g.29773728G>T" "" "Hedberg-Oldfors ESHG2020 C20.4" "" "4812C>A" "" "Germline" "" "" "0" "" "" "g.29484799G>T" "" "pathogenic (recessive)" "" "0000668049" "3" "90" "10" "29788132" "29788133" "del" "0" "00006" "SVIL_000015" "g.29788132_29788133del" "" "Hedberg-Oldfors ESHG2020 C20.4" "" "" "" "Germline" "yes" "" "0" "" "" "g.29499203_29499204del" "" "pathogenic (recessive)" "" "0000965707" "0" "30" "10" "29822358" "29822358" "subst" "0.00474724" "01804" "SVIL_000016" "g.29822358T>C" "" "" "" "SVIL(NM_021738.2):c.938A>G (p.(Glu313Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979017" "0" "50" "10" "29812634" "29812634" "subst" "8.93597E-5" "01804" "SVIL_000017" "g.29812634T>A" "" "" "" "SVIL(NM_021738.3):c.2909A>T (p.(Glu970Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979018" "0" "50" "10" "29821683" "29821683" "subst" "3.24884E-5" "01804" "SVIL_000018" "g.29821683G>A" "" "" "" "SVIL(NM_021738.3):c.1613C>T (p.(Ser538Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037883" "0" "50" "10" "29783907" "29783907" "subst" "2.43692E-5" "01804" "SVIL_000019" "g.29783907C>T" "" "" "" "SVIL(NM_021738.3):c.3777G>A (p.(Met1259Ile))" "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 SVIL ## Count = 19 "{{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}}" "0000004824" "00025527" "30" "-10566" "0" "-10566" "0" "c.-10566G>A" "r.(?)" "p.(=)" "" "0000244245" "00025527" "90" "3626" "0" "3626" "0" "c.3626C>T" "r.(?)" "p.(Ser1209Leu)" "" "0000253534" "00025527" "10" "6054" "0" "6054" "0" "c.6054T>C" "r.(?)" "p.(Phe2018=)" "" "0000253603" "00025527" "10" "4121" "0" "4121" "0" "c.4121T>G" "r.(?)" "p.(Leu1374Arg)" "" "0000315942" "00025527" "50" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Arg729Cys)" "" "0000315943" "00025527" "10" "4386" "0" "4386" "0" "c.4386A>G" "r.(?)" "p.(Arg1462=)" "" "0000315944" "00025527" "30" "5138" "0" "5138" "0" "c.5138C>T" "r.(?)" "p.(Thr1713Ile)" "" "0000315945" "00025527" "30" "870" "0" "870" "0" "c.870C>T" "r.(?)" "p.(Ser290=)" "" "0000539837" "00025527" "50" "5342" "0" "5342" "0" "c.5342A>G" "r.(?)" "p.(Tyr1781Cys)" "" "0000539838" "00025527" "30" "4461" "0" "4461" "0" "c.4461T>C" "r.(?)" "p.(Phe1487=)" "" "0000539839" "00025527" "10" "4241" "0" "4241" "0" "c.4241G>C" "r.(?)" "p.(Ser1414Thr)" "" "0000612452" "00025527" "50" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Glu817Lys)" "" "0000612453" "00025527" "30" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Glu424Lys)" "" "0000668048" "00025527" "90" "4812" "0" "4812" "0" "c.4812C>A" "r.(?)" "p.(Tyr1604*)" "" "0000668049" "00025527" "90" "3578" "0" "3579" "0" "c.3578_3579del" "r.(?)" "p.(Val1193Glufs*46)" "" "0000965707" "00025527" "30" "938" "0" "938" "0" "c.938A>G" "r.(?)" "p.(Glu313Gly)" "" "0000979017" "00025527" "50" "2909" "0" "2909" "0" "c.2909A>T" "r.(?)" "p.(Glu970Val)" "" "0000979018" "00025527" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Ser538Leu)" "" "0001037883" "00025527" "50" "3777" "0" "3777" "0" "c.3777G>A" "r.(?)" "p.(Met1259Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004824" "0000151077" "0000244245" "0000304577" "0000668048" "0000304578" "0000668049"