### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = C1S) # 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}}" "C1S" "complement component 1, s subcomponent" "12" "p13" "unknown" "NC_000012.11" "UD_132085274998" "" "https://www.LOVD.nl/C1S" "" "1" "1247" "716" "120580" "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/C1S_codingDNA.html" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:06:46" "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}}" "00003661" "C1S" "transcript variant 2" "002" "NM_001734.3" "" "NP_001725.1" "" "" "" "-276" "2448" "2067" "7167980" "7178336" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01716" "C1SD" "complement component c1r/c1s deficiency (C1SD)" "" "216950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "03430" "C1SD" "C1s deficiency" "" "613783" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06174" "EDSPD2" "Ehlers-Danlos syndrome, periodontal type, 2" "AD" "617174" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "07011" "EDSPD1" "Ehlers-Danlos syndrome, periodontal type, 1" "AD" "130080" "" "" "" "00006" "2023-05-01 17:52:31" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "C1S" "03430" "C1S" "06174" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00290792" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00435215" "" "" "" "2" "" "03256" "{DOI:Alshekaili 2023:10.1016/j.clim.2023.109646}" "A C1S-deficient family presenting with a Kikuchi-Fujimoto disease (KFD)" "M" "yes" "Oman" "" "0" "" "" "" "" "00435230" "" "" "" "5" "" "03256" "{PMID:Kapferer-Seebacher et al., 2016:27745832}{DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}" "" "F" "no" "(Austria)" "" "0" "" "" "" "" "00435231" "" "" "" "4" "" "03256" "{DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019}" "" "M" "" "(Austria)" "" "0" "" "" "" "" "00435237" "" "" "" "1" "" "03256" "{DOI:Dragon-Durey et al., 2001:10.4049/jimmunol.166.12.7612}" "" "F" "yes" "France" "" "0" "" "" "" "" "00435244" "" "" "" "4" "" "03256" "{DOI:Amano et al., 2008:10.1016/j.molimm.2007.09.034}" "Two homozygous siblings presenting a C1s deficiency associated with a decreased antigenic C1r" "F" "yes" "Brazil" "" "0" "" "" "" "" "00435251" "" "" "" "1" "" "03256" "{DOI:Inoue 1998:10.1007/s004390050843}" "" "M" "yes" "Japan" "" "0" "" "" "" "" "00435252" "" "" "" "2" "" "03256" "{DOI:Abe 2009:10.4049/jimmunol.182.3.1681}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00435253" "" "" "" "1" "" "03256" "{PMID:Endo 1999:9973493}, {DOI:Endo 1999:10.4049/jimmunol.162.4.2180}" "" "M" "no" "Japan" "" "0" "" "" "" "patient" "00435254" "" "" "" "4" "" "03256" "{PMID:Amano et al., 2008:18062908} {DOI:Amano et al., 2008:10.1016/j.molimm.2007.09.034}" "2-generation family, 4 affected (F, 3M), unaffected non-carrier parents" "F" "yes" "Brazil" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00290792" "00198" "00362007" "04214" "00435215" "03430" "00435230" "07011" "00435231" "07011" "00435237" "03430" "00435244" "03430" "00435251" "03430" "00435252" "01716" "00435253" "03430" "00435254" "03430" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01716, 03430, 04214, 06174, 07011 ## Count = 10 "{{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}}" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000325415" "03430" "00435215" "03256" "Familial" "" "Homozygous probands presenting with Kikuchi-Fujimoto disease (KFD), also named Histiocytic Necrotizing Lymphadenitis, a rare and usually self-limited idiopathic inflammatory disease" "" "16y" "" "" "" "" "" "" "" "" "" "0000325429" "00169" "00435230" "03256" "Familial" "" "The cardinal clinical feature is severe early-onset periodontitis with marked gingival recessions that in some individuals affects primary teeth" "" "" "" "" "" "" "" "" "" "" "" "0000325430" "07011" "00435231" "03256" "Familial" "" "Proband presenting with extensive gingival inflammation in response to mild dental plaque accumulation and early-onset periodontitis characterized\r\nby a rapid destruction of the periodontal attachment apparatus in the teens." "" "" "" "" "" "" "" "" "" "" "" "0000325434" "07011" "00435237" "03256" "Familial" "" "Proband presenting with lack of antigenic C1s and multiple autoimmune features" "" "02y03m" "" "" "" "" "" "" "" "" "" "0000325440" "03430" "00435244" "03256" "Familial" "" "Female proband presenting with recurrent infections (several episodes of pneumonia, septic arthritis and sinusitis) and SLE manifestations since the age of 7" "07y" "" "" "" "" "" "" "" "25y" "" "" "0000325447" "03430" "00435251" "03256" "Familial" "" "Proband presenting with a complete C1s deficiency, including LES with malar rash, lupus nephritis, ANA+, dsDNA Ab+, dilated cardiomyopathy at age 26y" "" "" "" "" "" "" "" "" "11y" "" "" "0000325448" "01716" "00435252" "03256" "Familial" "" "Proband presenting with a complete C1s and C1r deficiency, developing seizure, fever, unilateral sacroileitis and ANA+ at age 16y" "" "" "" "" "" "" "" "" "13y" "" "" "0000325449" "03430" "00435253" "03256" "Familial" "04y" "Proband presenting a complete C1s deficiency, with seizures and virus-associated hemophagocytic syndrome at age 4y; death at age 7y" "" "" "" "" "" "" "" "" "" "" "" "0000325450" "03430" "00435254" "03256" "Familial" "" "Homozygous proband and her brother are presenting with a selective C1s deficiency and recurrent infections (several episodes of pneumonia, septic arthritis\r\nand sinusitis) and SLE manifestations since age 7y" "07y" "" "" "" "" "" "" "" "25y" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291960" "00290792" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436690" "00435215" "1" "03256" "03256" "2023-06-12 16:54:10" "" "" "SEQ" "DNA" "blood" "" "0000436708" "00435230" "1" "03256" "03256" "2023-06-19 11:13:27" "" "" "SEQ" "DNA" "blood" "" "0000436709" "00435231" "1" "03256" "03256" "2023-06-19 15:35:58" "" "" "SEQ" "DNA" "blood" "" "0000436715" "00435237" "1" "03256" "03256" "2023-06-20 11:53:48" "" "" "SEQ" "DNA" "blood" "" "0000436723" "00435244" "1" "03256" "03256" "2023-06-21 11:27:59" "" "" "SEQ" "DNA" "blood" "" "0000436731" "00435251" "1" "03256" "03256" "2023-06-22 18:17:48" "" "" "SEQ" "DNA" "blood" "" "0000436732" "00435252" "1" "03256" "03256" "2023-06-22 18:45:29" "" "" "SEQ" "DNA" "blood" "" "0000436733" "00435253" "1" "03256" "03256" "2023-06-23 08:25:40" "" "" "SEQ" "DNA" "blood" "" "0000436734" "00435254" "1" "03256" "03256" "2023-06-23 10:24:45" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000436690" "C1S" "0000436708" "C1S" "0000436709" "C1S" "0000436715" "C1S" "0000436723" "C1S" "0000436731" "C1S" "0000436732" "C1S" "0000436733" "C1S" "0000436734" "C1S" ## 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 = 55 "{{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}}" "0000255002" "0" "30" "12" "7169873" "7169873" "subst" "0.000410172" "01943" "C1S_000001" "g.7169873A>G" "" "" "" "C1S(NM_201442.3):c.100A>G (p.S34G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7062569A>G" "" "likely benign" "" "0000272262" "0" "30" "12" "7177172" "7177172" "subst" "0.000890686" "01943" "C1S_000003" "g.7177172C>G" "" "" "" "C1S(NM_001734.3):c.1284C>G (p.P428=), C1S(NM_001734.5):c.1284C>G (p.P428=), C1S(NM_201442.3):c.1284C>G (p.P428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7069868C>G" "" "likely benign" "" "0000272263" "0" "30" "12" "7177715" "7177715" "subst" "8.12216E-6" "01943" "C1S_000004" "g.7177715C>T" "" "" "" "C1S(NM_201442.3):c.1827C>T (p.A609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7070411C>T" "" "likely benign" "" "0000322659" "0" "50" "12" "7173921" "7173921" "subst" "4.06085E-6" "01804" "C1S_000002" "g.7173921G>A" "" "" "" "C1S(NM_001734.3):c.971G>A (p.(Gly324Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7066617G>A" "" "VUS" "" "0000344057" "0" "50" "12" "7173893" "7173893" "subst" "0.00352464" "02327" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7066589G>A" "" "VUS" "" "0000549112" "0" "30" "12" "7170178" "7170178" "subst" "0" "02329" "C1S_000006" "g.7170178G>T" "" "" "" "C1S(NM_201442.4):c.214-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7062874G>T" "" "likely benign" "" "0000549113" "0" "30" "12" "7170286" "7170286" "subst" "0.000584791" "01943" "C1S_000007" "g.7170286A>G" "" "" "" "C1S(NM_001734.3):c.306A>G (p.P102=), C1S(NM_001734.5):c.306A>G (p.P102=), C1S(NM_201442.3):c.306A>G (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7062982A>G" "" "likely benign" "" "0000549114" "0" "30" "12" "7170286" "7170286" "subst" "0.000584791" "02326" "C1S_000007" "g.7170286A>G" "" "" "" "C1S(NM_001734.3):c.306A>G (p.P102=), C1S(NM_001734.5):c.306A>G (p.P102=), C1S(NM_201442.3):c.306A>G (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7062982A>G" "" "likely benign" "" "0000549115" "0" "30" "12" "7170336" "7170336" "subst" "0.113467" "02327" "C1S_000008" "g.7170336G>A" "" "" "" "C1S(NM_201442.4):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7063032G>A" "" "likely benign" "" "0000549116" "0" "10" "12" "7170336" "7170336" "subst" "0.113467" "02329" "C1S_000008" "g.7170336G>A" "" "" "" "C1S(NM_201442.4):c.356G>A (p.R119H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7063032G>A" "" "benign" "" "0000549117" "0" "10" "12" "7171620" "7171620" "subst" "0.0779421" "02329" "C1S_000009" "g.7171620C>T" "" "" "" "C1S(NM_201442.4):c.441C>T (p.C147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7064316C>T" "" "benign" "" "0000549118" "0" "30" "12" "7173893" "7173893" "subst" "0.00352464" "01943" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7066589G>A" "" "likely benign" "" "0000549119" "0" "30" "12" "7174996" "7174996" "subst" "5.27953E-5" "01943" "C1S_000010" "g.7174996C>T" "" "" "" "C1S(NM_201442.3):c.1116C>T (p.D372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7067692C>T" "" "likely benign" "" "0000549120" "0" "10" "12" "7175047" "7175047" "subst" "0.0794224" "02329" "C1S_000011" "g.7175047A>G" "" "" "" "C1S(NM_201442.4):c.1167A>G (p.P389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7067743A>G" "" "benign" "" "0000549123" "0" "90" "12" "7177425" "7177425" "subst" "0" "02327" "C1S_000013" "g.7177425G>T" "" "" "" "C1S(NM_201442.4):c.1537G>T (p.G513*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7070121G>T" "" "pathogenic" "" "0000614377" "0" "30" "12" "7177214" "7177214" "subst" "0.000670116" "01943" "C1S_000014" "g.7177214C>T" "" "" "" "C1S(NM_001734.3):c.1326C>T (p.S442=), C1S(NM_001734.5):c.1326C>T (p.S442=), C1S(NM_201442.3):c.1326C>T (p.S442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7069910C>T" "" "likely benign" "" "0000622968" "0" "30" "12" "7173893" "7173893" "subst" "0.00352464" "02326" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7066589G>A" "" "likely benign" "" "0000648649" "1" "90" "12" "7177488" "7177488" "subst" "0.00014234" "03575" "C1S_000015" "g.7177488C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909582}" "Germline" "" "rs121909582" "0" "" "" "g.7070184C>T" "" "pathogenic" "" "0000657195" "0" "30" "12" "7177214" "7177214" "subst" "0.000670116" "02326" "C1S_000014" "g.7177214C>T" "" "" "" "C1S(NM_001734.3):c.1326C>T (p.S442=), C1S(NM_001734.5):c.1326C>T (p.S442=), C1S(NM_201442.3):c.1326C>T (p.S442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7069910C>T" "" "likely benign" "" "0000679638" "0" "30" "12" "7173870" "7173870" "subst" "0.000791885" "02326" "C1S_000016" "g.7173870C>T" "" "" "" "C1S(NM_001734.3):c.920C>T (p.A307V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679639" "0" "50" "12" "7173893" "7173893" "subst" "0.00352464" "02325" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679640" "0" "30" "12" "7175822" "7175822" "subst" "0" "01943" "C1S_000017" "g.7175822A>G" "" "" "" "C1S(NM_201442.3):c.1258A>G (p.K420E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679641" "0" "30" "12" "7177172" "7177172" "subst" "0.000890686" "02326" "C1S_000003" "g.7177172C>G" "" "" "" "C1S(NM_001734.3):c.1284C>G (p.P428=), C1S(NM_001734.5):c.1284C>G (p.P428=), C1S(NM_201442.3):c.1284C>G (p.P428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724231" "0" "30" "12" "7172542" "7172542" "subst" "7.71574E-5" "01943" "C1S_000018" "g.7172542G>A" "" "" "" "C1S(NM_201442.3):c.656G>A (p.R219Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724232" "0" "50" "12" "7173893" "7173893" "subst" "0.00352464" "02329" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724233" "0" "90" "12" "7177425" "7177425" "subst" "0" "02329" "C1S_000013" "g.7177425G>T" "" "" "" "C1S(NM_201442.4):c.1537G>T (p.G513*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763779" "0" "50" "12" "7177276" "7177276" "subst" "8.12216E-6" "00000" "C1S_000019" "g.7177276C>T" "" "{PMID:Duvvari 2016:27007659}" "" "1388C>T" "" "Germline" "" "rs375077429" "0" "" "" "g.7069972C>T" "" "VUS" "" "0000805935" "0" "30" "12" "7175762" "7175762" "subst" "0.000170625" "01943" "C1S_000020" "g.7175762G>A" "" "" "" "C1S(NM_201442.3):c.1198G>A (p.E400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853521" "0" "30" "12" "7170286" "7170286" "subst" "0.000584791" "02329" "C1S_000007" "g.7170286A>G" "" "" "" "C1S(NM_001734.3):c.306A>G (p.P102=), C1S(NM_001734.5):c.306A>G (p.P102=), C1S(NM_201442.3):c.306A>G (p.P102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863130" "0" "50" "12" "7171619" "7171619" "subst" "0" "02325" "C1S_000021" "g.7171619G>A" "" "" "" "C1S(NM_201442.4):c.440G>A (p.C147Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863131" "0" "30" "12" "7173913" "7173913" "subst" "2.43641E-5" "01943" "C1S_000022" "g.7173913T>C" "" "" "" "C1S(NM_201442.3):c.963T>C (p.C321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913949" "0" "30" "12" "7175782" "7175782" "subst" "0.000869311" "02326" "C1S_000023" "g.7175782C>T" "" "" "" "C1S(NM_201442.4):c.1218C>T (p.N406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913950" "0" "30" "12" "7177739" "7177739" "subst" "4.06141E-6" "02329" "C1S_000024" "g.7177739C>T" "" "" "" "C1S(NM_001734.5):c.1851C>T (p.I617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925698" "0" "10" "12" "7177172" "7177172" "subst" "0.000890686" "02329" "C1S_000003" "g.7177172C>G" "" "" "" "C1S(NM_001734.3):c.1284C>G (p.P428=), C1S(NM_001734.5):c.1284C>G (p.P428=), C1S(NM_201442.3):c.1284C>G (p.P428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927804" "3" "90" "12" "7170310" "7170310" "del" "0" "03256" "C1S_000025" "g.7170310del" "" "{DOI:Alshekaili 2023:10.1016/j.clim.2023.109646}" "" "" "Probands presenting with a strongly decreased complement haemolytic activity and a decreased antigenic C1q. Heterozygous parents with a half complement haemolytic activity." "Germline" "yes" "" "" "" "" "g.7063006del" "" "pathogenic (recessive)" "" "0000927830" "0" "97" "12" "7173830" "7173830" "subst" "0" "03256" "C1S_000026" "g.7173830T>C" "" "{DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019} {DOI:Bally 2019:10.3389/fimmu.2019.02962}" "" "" "p.(Cys294Arg) variant affects Sushi CCP1 domain. C1S p.(Cys294Arg) variant exposes a normally inaccessible cleavage site that escapes normal control by C1-INH and triggers abnormal C1s activation, with subsequent collagen degradation.\r\nDescribed in ClinVar as pathogenic by Division of Human Genetics, Medical University Innsbruck Austria" "Germline" "yes" "rs886040975" "0" "" "" "g.7066526T>C" "{CV-SCV:000494614}" "pathogenic" "" "0000927831" "0" "99" "12" "7173895" "7173897" "del" "0" "03256" "C1S_000027" "g.7173895_7173897del" "" "{PMID:Kapferer-Seebacher 2016:27745832} {DOI:Kapferer-Seebacher 2016:10.1016/j.ajhg.2016.08.019} {DOI:Bally 2019]:10.3389/fimmu.2019.02962}" "" "" "p.(Asp315_Val316delinsGlu) affects the Sushi CCP1 domain (near CUB2). C1S p.(Asp315_Val316delinsGlu) variant exposes a normally inaccessible cleavage site that escapes normal control by C1-INH and triggers abnormal C1s activation, with subsequent collagen degradation.\r\nIdentified in ClinVar as pathogenic by Division of Human Genetics, Medical University Innsbruck Austria" "Germline" "yes" "rs886040974" "0" "" "" "g.7066591_7066593del" "{CV-SCV:000494615}" "pathogenic" "" "0000927836" "3" "99" "12" "7177455" "7177455" "subst" "0" "03256" "C1S_000028" "g.7177455C>T" "0.000004" "{DOI:Dragon-Durey et al., 2001:10.4049/jimmunol.166.12.7612}" "" "" "2-year-old female proband presenting with a complete C1s deficiency and multiple autoimmune features.\r\nHeterozygous parents present with normal CH50 activity and decreased antigenic C1s" "Germline" "" "rs781856506" "0" "" "" "g.7070151C>T" "" "likely pathogenic (recessive)" "" "0000927848" "3" "90" "12" "7172498" "7172498" "subst" "0" "03256" "C1S_000029" "g.7172498C>G" "" "{DOI:Amano et al., 2008:10.1016/j.molimm.2007.09.034}" "" "" "Proband and her 3 brothers presenting with an undetectable antigenic C1s in serum, a lack of haemolytic complement and partial C1r deficiency (27–36% of normal). Absence of C1s synthesis by fibroblasts. \r\nHeterozygous parents have moderately decreased antigenic C1s (73–75%) and C1r (70–72%)." "Germline" "yes" "" "0" "" "" "g.7065194C>G" "" "pathogenic (recessive)" "" "0000927857" "3" "90" "12" "7175012" "7175015" "del" "0" "03256" "C1S_000030" "g.7175012_7175015del" "" "{PMID:Inoue 1998:9856483} {DOI:Inoue 1998:10.1007/s004390050843}" "" "" "Introduced as pathogenic in ClinVar, last update Oct 15 2016" "Germline" "" "" "" "" "" "g.7067708_7067711del" "{CV-SCV:000038879.2}" "pathogenic (recessive)" "" "0000927858" "21" "90" "12" "7177777" "7177777" "subst" "0" "03256" "C1S_000032" "g.7177777G>A" "" "{DOI:Abe 2009:10.4049/jimmunol.182.3.1681}" "" "" "Compound heterozygosity c.[1789G>T];[1889G>A] identified in the female proband and her brother" "Germline" "yes" "" "0" "" "" "g.7070473G>A" "" "pathogenic (recessive)" "" "0000927859" "11" "90" "12" "7177677" "7177677" "subst" "0" "03256" "C1S_000031" "g.7177677G>T" "" "{DOI:Abe 2009:10.4049/jimmunol.182.3.1681}" "" "" "Compound heterozygosity c.[1789G>T];[1889G>A] identified in the female proband and her brother" "Germline" "yes" "" "0" "" "" "g.7070373G>T" "" "pathogenic (recessive)" "" "0000927860" "11" "90" "12" "7175012" "7175015" "del" "0" "03256" "C1S_000030" "g.7175012_7175015del" "" "{PMID:Endo 1999:9973493}, {DOI:Endo 1999:10.4049/jimmunol.162.4.2180}" "" "" "Proband is a compound heterozygous carrier c.[1132-1135del];[1789G>T], with a complete C1s deficiency; his parents and heterozygous carriers of the family are presenting with one-half of the normal antigenic C1s" "Germline" "yes" "" "0" "" "" "g.7067708_7067711del" "" "pathogenic (recessive)" "" "0000927861" "21" "90" "12" "7177677" "7177677" "subst" "0" "03256" "C1S_000031" "g.7177677G>T" "" "{PMID:Endo 1999:9973493}, {DOI:Endo 1999:10.4049/jimmunol.162.4.2180}" "" "" "Proband is a compound heterozygous carrier c.[1132-1135de]l;[1789G>T], with a complete C1s deficiency; his parents and heterozygous carriers of the family are presenting with one-half of the normal antigenic C1s" "Germline" "yes" "" "0" "" "" "g.7070373G>T" "" "pathogenic (recessive)" "" "0000927862" "3" "99" "12" "7172498" "7172498" "subst" "0" "03256" "C1S_000029" "g.7172498C>G" "" "{PMID:Amano et al., 2008:18062908} {DOI:Amano et al., 2008:10.1016/j.molimm.2007.09.034}" "" "" "heterozygous parents have moderately decreased antigenic C1s (73–75%) and C1r (70–72%)." "Germline" "yes" "" "0" "" "" "g.7065196C>G" "" "pathogenic (recessive)" "" "0000950029" "0" "10" "12" "7172391" "7172398" "del" "0" "02329" "C1S_000033" "g.7172391_7172398del" "" "" "" "C1S(NM_001734.5):c.518-13_518-6del, C1S(NM_001734.5):c.518-13_518-6delTTTTCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950030" "0" "50" "12" "7173136" "7173136" "subst" "5.68611E-5" "02325" "C1S_000034" "g.7173136C>T" "" "" "" "C1S(NM_201442.4):c.733C>T (p.R245W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000320" "0" "50" "12" "7173207" "7173208" "dup" "0" "01804" "C1S_000035" "g.7173207_7173208dup" "" "" "" "C1S(NM_001734.3):c.804_805dupTG (p.(Asp269fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000321" "0" "30" "12" "7173893" "7173893" "subst" "0.00352464" "01804" "C1S_000005" "g.7173893G>A" "" "" "" "C1S(NM_001734.3):c.943G>A (p.(Asp315Asn), p.D315N), C1S(NM_001734.5):c.943G>A (p.D315N), C1S(NM_201442.3):c.943G>A (p.D315N), C1S(NM_201442.4):c.94..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000322" "0" "10" "12" "7177214" "7177214" "subst" "0.000670116" "02329" "C1S_000014" "g.7177214C>T" "" "" "" "C1S(NM_001734.3):c.1326C>T (p.S442=), C1S(NM_001734.5):c.1326C>T (p.S442=), C1S(NM_201442.3):c.1326C>T (p.S442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015017" "0" "30" "12" "7177553" "7177553" "subst" "1.22057E-5" "02329" "C1S_000036" "g.7177553C>T" "" "" "" "C1S(NM_001734.5):c.1665C>T (p.S555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039451" "0" "50" "12" "7172391" "7172398" "del" "0" "01804" "C1S_000033" "g.7172391_7172398del" "" "" "" "C1S(NM_001734.5):c.518-13_518-6del, C1S(NM_001734.5):c.518-13_518-6delTTTTCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039452" "0" "50" "12" "7172609" "7172609" "subst" "0" "01804" "C1S_000037" "g.7172609T>A" "" "" "" "C1S(NM_001734.5):c.717+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039453" "0" "90" "12" "7177455" "7177455" "subst" "0" "01804" "C1S_000028" "g.7177455C>T" "" "" "" "C1S(NM_001734.5):c.1567C>T (p.(Arg523*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039454" "0" "50" "12" "7177833" "7177833" "subst" "8.1481E-6" "01804" "C1S_000038" "g.7177833G>A" "" "" "" "C1S(NM_001734.5):c.1945G>A (p.(Ala649Thr))" "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 C1S ## Count = 55 "{{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}}" "0000255002" "00003661" "30" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Ser34Gly)" "" "0000272262" "00003661" "30" "1284" "0" "1284" "0" "c.1284C>G" "r.(?)" "p.(Pro428=)" "" "0000272263" "00003661" "30" "1827" "0" "1827" "0" "c.1827C>T" "r.(?)" "p.(Ala609=)" "" "0000322659" "00003661" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Gly324Glu)" "" "0000344057" "00003661" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000549112" "00003661" "30" "214" "-16" "214" "-16" "c.214-16G>T" "r.(=)" "p.(=)" "" "0000549113" "00003661" "30" "306" "0" "306" "0" "c.306A>G" "r.(?)" "p.(Pro102=)" "" "0000549114" "00003661" "30" "306" "0" "306" "0" "c.306A>G" "r.(?)" "p.(Pro102=)" "" "0000549115" "00003661" "30" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000549116" "00003661" "10" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119His)" "" "0000549117" "00003661" "10" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Cys147=)" "" "0000549118" "00003661" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000549119" "00003661" "30" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(Asp372=)" "" "0000549120" "00003661" "10" "1167" "0" "1167" "0" "c.1167A>G" "r.(?)" "p.(Pro389=)" "" "0000549123" "00003661" "90" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Gly513Ter)" "" "0000614377" "00003661" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ser442=)" "" "0000622968" "00003661" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000648649" "00003661" "90" "1600" "0" "1600" "0" "c.1600C>T" "r.(?)" "p.(Arg534Trp)" "" "0000657195" "00003661" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ser442=)" "" "0000679638" "00003661" "30" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Ala307Val)" "" "0000679639" "00003661" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000679640" "00003661" "30" "1258" "0" "1258" "0" "c.1258A>G" "r.(?)" "p.(Lys420Glu)" "" "0000679641" "00003661" "30" "1284" "0" "1284" "0" "c.1284C>G" "r.(?)" "p.(Pro428=)" "" "0000724231" "00003661" "30" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Gln)" "" "0000724232" "00003661" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0000724233" "00003661" "90" "1537" "0" "1537" "0" "c.1537G>T" "r.(?)" "p.(Gly513Ter)" "" "0000763779" "00003661" "50" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000805935" "00003661" "30" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Glu400Lys)" "" "0000853521" "00003661" "30" "306" "0" "306" "0" "c.306A>G" "r.(?)" "p.(Pro102=)" "" "0000863130" "00003661" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Cys147Tyr)" "" "0000863131" "00003661" "30" "963" "0" "963" "0" "c.963T>C" "r.(?)" "p.(Cys321=)" "" "0000913949" "00003661" "30" "1218" "0" "1218" "0" "c.1218C>T" "r.(?)" "p.(Asn406=)" "" "0000913950" "00003661" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Ile617=)" "" "0000925698" "00003661" "10" "1284" "0" "1284" "0" "c.1284C>G" "r.(?)" "p.(Pro428=)" "" "0000927804" "00003661" "90" "330" "0" "330" "0" "c.330del" "r.(?)" "p.(Phe110Leufs*23)" "4" "0000927830" "00003661" "97" "880" "0" "880" "0" "c.880T>C" "r.(?)" "p.(Cys294Arg)" "8" "0000927831" "00003661" "99" "945" "0" "947" "0" "c.945_947del" "r.(?)" "p.(Asp315_Val316delinsGlu)" "8" "0000927836" "00003661" "99" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523*)" "12" "0000927848" "00003661" "90" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "6" "0000927857" "00003661" "90" "1132" "0" "1135" "0" "c.1132_1135del" "r.(?)" "p.(Phe378Valfs*32)" "10" "0000927858" "00003661" "90" "1889" "0" "1889" "0" "c.1889G>A" "r.(?)" "p.(Gly630Glu)" "12" "0000927859" "00003661" "90" "1789" "0" "1789" "0" "c.1789G>T" "r.(?)" "p.(Glu597*)" "12" "0000927860" "00003661" "90" "1132" "0" "1135" "0" "c.1132_1135del" "r.(?)" "p.(Phe378Valfs*32)" "10" "0000927861" "00003661" "90" "1789" "0" "1789" "0" "c.1789G>T" "r.(?)" "p.(Glu597*)" "12" "0000927862" "00003661" "99" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "6" "0000950029" "00003661" "10" "518" "-13" "518" "-6" "c.518-13_518-6del" "r.(=)" "p.(=)" "" "0000950030" "00003661" "50" "733" "0" "733" "0" "c.733C>T" "r.(?)" "p.(Arg245Trp)" "" "0001000320" "00003661" "50" "804" "0" "805" "0" "c.804_805dup" "r.(?)" "p.(Asp269Valfs*9)" "" "0001000321" "00003661" "30" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Asp315Asn)" "" "0001000322" "00003661" "10" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ser442=)" "" "0001015017" "00003661" "30" "1665" "0" "1665" "0" "c.1665C>T" "r.(?)" "p.(=)" "" "0001039451" "00003661" "50" "518" "-13" "518" "-6" "c.518-13_518-6del" "r.(=)" "p.(=)" "" "0001039452" "00003661" "50" "717" "6" "717" "6" "c.717+6T>A" "r.(=)" "p.(=)" "" "0001039453" "00003661" "90" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(Arg523*)" "" "0001039454" "00003661" "50" "1945" "0" "1945" "0" "c.1945G>A" "r.(?)" "p.(Ala649Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000291960" "0000648649" "0000363235" "0000763779" "0000436690" "0000927804" "0000436708" "0000927830" "0000436709" "0000927831" "0000436715" "0000927836" "0000436723" "0000927848" "0000436731" "0000927857" "0000436732" "0000927858" "0000436732" "0000927859" "0000436733" "0000927860" "0000436733" "0000927861" "0000436734" "0000927862"