### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD55) # 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}}" "CD55" "CD55 molecule, decay accelerating factor for complement (Cromer blood group)" "1" "q32" "unknown" "LRG_127" "UD_132118765243" "" "https://www.LOVD.nl/CD55" "" "1" "2665" "1604" "125240" "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/CD55_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-14 10:49:05" "00006" "2024-05-31 11:42:04" ## 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}}" "00004715" "CD55" "transcript variant 1" "002" "NM_000574.3" "" "NP_000565.1" "" "" "" "-294" "2502" "1146" "207494817" "207534311" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03435" "CROM" "blood group system, Cromer" "AR" "613793" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05992" "CHAPLE" "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" "AR" "226300" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CD55" "03435" "CD55" "05992" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00402898" "" "" "00402908" "1" "" "00006" "{PMID:Kurolap 2017:28657861}, {PMID:Kurolap 2022:35108495}" "multi-generation family, 1 NDD affected, unaffected heterozygous carrier parents" "M" "yes" "Israel" "" "0" "" "" "Muslim Arab" "Fam;Pat1" "00402908" "" "" "" "6" "" "00006" "{PMID:Kurolap 2017:28657861}" "5-generation family, 6 affected (4F, 2M)" "F;M" "yes" "Israel" "" "0" "" "" "Muslim;Arab" "Fam" "00402909" "" "" "" "1" "" "00006" "{PMID:Lublin 1994:7519480}" "" "M" "" "Japan" "" "0" "" "" "" "Inab" "00402912" "" "" "" "1" "" "00006" "{PMID:Lublin 1991:1710232}, {PMID:Reid 1991:1720702}, {PMID:Lublin 1994:7519480}" "" "F" "" "Russia" "" "0" "" "" "" "KZ" "00402913" "" "" "" "1" "" "00006" "{PMID:Daniels 1998:9675792}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Osad" "00402914" "" "" "" "1" "" "00006" "{PMID:Daniels 1998:9675792}" "" "F" "" "Japan" "" "0" "" "" "" "Kim" "00402915" "" "" "" "1" "" "00006" "{PMID:Wang 1998:9427725}" "" "F" "" "Japan" "" "0" "" "" "" "HA" "00402916" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1Pat1" "00402917" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2Pat2" "00402918" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam3Pat1" "00402919" "" "" "" "3" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, affected sister/2 brothers, unaffected heterozygous carrier parents" "F;M" "yes" "Turkey" "" "0" "" "" "" "Fam4Pat1/2/3" "00402920" "" "" "" "2" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam5Pat1" "00402921" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Fam6Pat1" "00402922" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Syria" "" "0" "" "" "" "Fam7Pat1" "00402923" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "yes" "Morocco" "" "0" "" "" "" "Fam8Pat1" "00451301" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074197" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00402898" "05611" "00402898" "05992" "00402908" "05992" "00402909" "03435" "00402909" "05992" "00402912" "03435" "00402913" "03435" "00402913" "05992" "00402914" "03435" "00402915" "03435" "00402916" "05992" "00402917" "05992" "00402918" "05992" "00402919" "05992" "00402920" "05992" "00402921" "05992" "00402922" "05992" "00402923" "05992" "00451301" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03435, 04249, 05611, 05992 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000295649" "05611" "00402898" "00006" "Familial, autosomal recessive" "5y" "polyhydramnios; bi-temporal narrowing, plagiocephaly, bushy eyebrows with medial flaring, long eyelashes, depressed nasal bridge, cupid bowed lips, micrognathia; severe global developmental delay; self-injurious behavior; weight -2.4 SD, height -2.5 SD; microcephaly (OFC -3.5 SD); axial hypotonia, mild motor-sensory demyelinating polyneuropathy; MRI brain hydrocephalus, thin corpus callosum, partially shifted vermis; optic atrophy, abnormal visual-evoked potential, exotropia; abnormal brain-stem-evoked response auditory; congenital hip dysplasia, severe scoliosis, pes cavus, tapering fingers; oxygen supplementation, gastrostomy feeding, cryptorchidism, CD55-deficiency" "1d" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000295659" "05992" "00402908" "00006" "Familial, autosomal recessive" "" "see paper; ..., protein-losing enteropathy, hypercoagulability, generalized edema, severe hypoalbuminemia, diarrhea, abdominal complications, repeated thrombotic events (3/6)" "" "" "" "" "" "" "" "" "protein-losing enteropathy" "0000295660" "05992" "00402898" "00006" "Familial, autosomal recessive" "" "see paper; ..., protein-losing enteropathy, hypercoagulopathy" "" "" "" "" "" "" "" "" "protein-losing enteropathy" "0000295661" "03435" "00402909" "00006" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "CROM" "" "0000295662" "05992" "00402909" "00006" "Familial, autosomal recessive" "27y" "see paper; ..., protein-losing enteropathy, ileocecal tumor (hemicolectomy)" "" "" "" "" "" "" "" "" "" "0000295664" "05992" "00402916" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295665" "05992" "00402917" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295666" "05992" "00402918" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295667" "05992" "00402919" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295668" "05992" "00402920" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295669" "05992" "00402921" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295670" "05992" "00402922" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" "0000295671" "05992" "00402923" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000404139" "00402898" "1" "00006" "00006" "2022-02-14 10:40:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404149" "00402908" "1" "00006" "00006" "2022-02-14 10:59:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404150" "00402909" "1" "00006" "00006" "2022-02-14 11:28:26" "00006" "2022-02-14 11:36:41" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404153" "00402912" "1" "00006" "00006" "2022-02-14 12:29:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404154" "00402913" "1" "00006" "00006" "2022-02-14 13:37:05" "" "" "SEQ" "DNA" "" "" "0000404155" "00402914" "1" "00006" "00006" "2022-02-14 13:41:56" "" "" "SEQ" "DNA" "" "" "0000404156" "00402915" "1" "00006" "00006" "2022-02-14 13:48:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404157" "00402916" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404158" "00402917" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404159" "00402918" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404160" "00402919" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ" "DNA" "" "" "0000404161" "00402920" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000404162" "00402921" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ" "DNA" "" "" "0000404163" "00402922" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ" "DNA" "" "" "0000404164" "00402923" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ" "DNA" "" "" "0000452900" "00451301" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000404150" "CD55" "0000404153" "CD55" "0000404154" "CD55" "0000404155" "CD55" "0000404156" "CD55" "0000404160" "CD55" "0000404162" "CD55" "0000404163" "CD55" "0000404164" "CD55" ## 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 = 51 "{{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}}" "0000254681" "0" "30" "1" "207512758" "207512758" "subst" "0.000470545" "01943" "CD55_000002" "g.207512758A>G" "" "" "" "CD55(NM_001114752.2):c.1077A>G (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.207339413A>G" "" "likely benign" "" "0000256032" "0" "50" "1" "207504479" "207504479" "subst" "0.000126191" "01943" "CD55_000001" "g.207504479A>G" "" "" "" "CD55(NM_001114752.2):c.691A>G (p.I231V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.207331134A>G" "" "VUS" "" "0000269890" "0" "30" "1" "207513869" "207513869" "subst" "0.00241756" "02326" "CD55_000003" "g.207513869C>T" "" "" "" "CD55(NM_001300902.1):c.1215C>T (p.H405=), CD55(NM_001300902.2):c.1215C>T (p.H405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.207340524C>T" "" "likely benign" "" "0000504975" "0" "30" "1" "207499086" "207499086" "subst" "0.00260113" "02326" "CD55_000004" "g.207499086A>G" "" "" "" "CD55(NM_001114752.3):c.578+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207325741A>G" "" "likely benign" "" "0000504976" "0" "30" "1" "207500166" "207500166" "subst" "0.000109801" "01943" "CD55_000005" "g.207500166G>A" "" "" "" "CD55(NM_001114752.2):c.648G>A (p.P216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207326821G>A" "" "likely benign" "" "0000504977" "0" "30" "1" "207504467" "207504467" "subst" "0.00159939" "02325" "CD55_000006" "g.207504467G>C" "" "" "" "CD55(NM_000574.3):c.679G>C (p.A227P), CD55(NM_001114752.3):c.679G>C (p.A227P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207331122G>C" "" "likely benign" "" "0000504978" "0" "30" "1" "207510171" "207510171" "subst" "0" "01943" "CD55_000007" "g.207510171G>T" "" "" "" "CD55(NM_001114752.2):c.979+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207336826G>T" "" "likely benign" "" "0000504979" "0" "30" "1" "207520795" "207520795" "subst" "0" "01943" "CD55_000008" "g.207520795C>T" "" "" "" "CD55(NM_001300903.1):c.1085C>T (p.T362M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207347450C>T" "" "likely benign" "" "0000504980" "0" "30" "1" "207532881" "207532882" "ins" "9.01752E-5" "01943" "CD55_000010" "g.207532881_207532882insTA" "" "" "" "CD55(NM_001114752.2):c.1200-10_1200-9insTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207359536_207359537insTA" "" "likely benign" "" "0000504981" "0" "10" "1" "207532881" "207532881" "dup" "0" "02326" "CD55_000009" "g.207532881dup" "" "" "" "CD55(NM_001114752.3):c.1200-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207359536dup" "" "benign" "" "0000620482" "0" "30" "1" "207532918" "207532918" "subst" "0" "01943" "CD55_000016" "g.207532918T>G" "" "" "" "CD55(NM_001114752.2):c.1227T>G (p.F409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207359573T>G" "" "likely benign" "" "0000653863" "0" "30" "1" "207495781" "207495781" "subst" "0.000312713" "02326" "CD55_000017" "g.207495781G>C" "" "" "" "CD55(NM_001114752.2):c.155G>C (p.R52P), CD55(NM_001114752.3):c.155G>C (p.R52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207322436G>C" "" "likely benign" "" "0000653864" "0" "30" "1" "207500169" "207500169" "subst" "9.75864E-5" "01943" "CD55_000018" "g.207500169G>A" "" "" "" "CD55(NM_001114752.2):c.651G>A (p.L217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207326824G>A" "" "likely benign" "" "0000653865" "0" "30" "1" "207513869" "207513869" "subst" "0.00241756" "01943" "CD55_000003" "g.207513869C>T" "" "" "" "CD55(NM_001300902.1):c.1215C>T (p.H405=), CD55(NM_001300902.2):c.1215C>T (p.H405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.207340524C>T" "" "likely benign" "" "0000675611" "0" "30" "1" "207513872" "207513872" "subst" "0.00014245" "01943" "CD55_000019" "g.207513872G>A" "" "" "" "CD55(NM_001300902.1):c.1218G>A (p.P406=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687997" "0" "30" "1" "207495881" "207495881" "subst" "8.14186E-6" "02326" "CD55_000020" "g.207495881T>C" "" "" "" "CD55(NM_001114752.3):c.255T>C (p.S85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687998" "0" "30" "1" "207513916" "207513916" "subst" "0" "01943" "CD55_000021" "g.207513916T>A" "" "" "" "CD55(NM_001300902.1):c.1262T>A (p.L421Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717109" "0" "30" "1" "207495781" "207495781" "subst" "0.000312713" "01943" "CD55_000017" "g.207495781G>C" "" "" "" "CD55(NM_001114752.2):c.155G>C (p.R52P), CD55(NM_001114752.3):c.155G>C (p.R52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717110" "0" "30" "1" "207500165" "207500165" "subst" "0.000182977" "02325" "CD55_000022" "g.207500165C>T" "" "" "" "CD55(NM_000574.5):c.647C>T (p.P216L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799031" "0" "30" "1" "207497911" "207497911" "subst" "0.00107108" "01943" "CD55_000023" "g.207497911C>T" "" "" "" "CD55(NM_000574.3):c.294C>T (p.C98=), CD55(NM_001114752.2):c.294C>T (p.C98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799032" "0" "90" "1" "207497984" "207497984" "dup" "0" "02327" "CD55_000024" "g.207497984dup" "" "" "" "CD55(NM_000574.5):c.367dupA (p.T123Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799033" "0" "30" "1" "207513861" "207513861" "subst" "0.000167878" "01943" "CD55_000025" "g.207513861C>T" "" "" "" "CD55(NM_001300902.1):c.1207C>T (p.P403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799034" "0" "50" "1" "207513981" "207513981" "subst" "0" "01943" "CD55_000026" "g.207513981C>T" "" "" "" "CD55(NM_001300902.1):c.1327C>T (p.R443*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000839766" "3" "90" "1" "207495153" "207495153" "del" "0" "00006" "CD55_000027" "g.207495153del" "" "{PMID:Kurolap 2017:28657861}" "" "" "" "Germline" "yes" "" "0" "" "" "g.207321808del" "{CV-SCV:000579315}" "pathogenic (recessive)" "" "0000839767" "3" "90" "1" "207495153" "207495153" "del" "0" "00006" "CD55_000027" "g.207495153del" "" "{PMID:Kurolap 2017:28657861}" "" "" "" "Germline" "yes" "" "0" "" "" "g.207321808del" "" "pathogenic (recessive)" "" "0000839768" "3" "90" "1" "207495887" "207495887" "subst" "0" "00006" "CD55_000028" "g.207495887G>A" "" "{PMID:Lublin 1994:7519480}" "BclI+" "314G>A (Trp53*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000839771" "3" "90" "1" "207500114" "207500114" "subst" "4.06547E-6" "00006" "CD55_000029" "g.207500114C>T" "" "{PMID:Lublin 1991:1710232}, {PMID:Reid 1991:1720702}, {PMID:Lublin 1994:7519480}" "" "649C>T (S165L) Dr(a-) phenotype" "variant suggested to create cryptic branch point; smaller RNA more abundant; amino acid substitution is the basis for antigenic variation (CROM blood group), alternative splicing event for decreased expression of DAF inDr(a-) phenotype" "Germline" "" "rs1135402914" "0" "" "" "g.207326769C>T" "" "likely benign (!)" "" "0000839772" "3" "90" "1" "207495887" "207495887" "subst" "0" "00006" "CD55_000028" "g.207495887G>A" "" "{PMID:Daniels 1998:9675792}" "" "G314A (Trp53*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000839773" "3" "90" "1" "207500114" "207500114" "subst" "4.06547E-6" "00006" "CD55_000029" "g.207500114C>T" "" "{PMID:Daniels 1998:9675792}" "" "C649T (Ser165Leu)" "" "Germline" "" "" "0" "" "" "g.207326769C>T" "" "likely benign (!)" "" "0000839774" "3" "70" "1" "207495889" "207495889" "subst" "0" "00006" "CD55_000030" "g.207495889C>A" "" "{PMID:Wang 1998:9427725}" "" "C1579A" "" "Germline" "" "rs1131690771" "0" "" "" "" "" "likely benign (!)" "" "0000839775" "3" "90" "1" "207495775" "207495776" "delins" "0" "00006" "CD55_000032" "g.207495775_207495776delinsCCTT" "" "{PMID:Ozen 2017:28657829}" "" "c.149_150delAAinsCCTT" "" "Germline" "" "" "0" "" "" "g.207322430_207322431delinsCCTT" "" "pathogenic (recessive)" "" "0000839776" "3" "90" "1" "207495736" "207495736" "del" "0" "00006" "CD55_000031" "g.207495736del" "" "{PMID:Ozen 2017:28657829}" "" "c.109delG" "" "Germline" "" "" "0" "" "" "g.207322391del" "" "pathogenic (recessive)" "" "0000839777" "3" "90" "1" "207495736" "207495736" "del" "0" "00006" "CD55_000031" "g.207495736del" "" "{PMID:Ozen 2017:28657829}" "" "c.109delG" "" "Germline" "" "" "0" "" "" "g.207322391del" "" "pathogenic (recessive)" "" "0000839778" "3" "90" "1" "207504588" "207504588" "subst" "0" "00006" "CD55_000034" "g.207504588G>C" "" "{PMID:Ozen 2017:28657829}" "" "" "" "Germline" "yes" "" "0" "" "" "g.207331243G>C" "" "pathogenic (recessive)" "" "0000839779" "3" "90" "1" "207495736" "207495736" "del" "0" "00006" "CD55_000031" "g.207495736del" "" "{PMID:Ozen 2017:28657829}" "" "c.109delG" "" "Germline" "yes" "" "0" "" "" "g.207322391del" "" "pathogenic (recessive)" "" "0000839780" "3" "90" "1" "207497903" "207497903" "subst" "0" "00006" "CD55_000033" "g.207497903G>A" "" "{PMID:Ozen 2017:28657829}" "" "" "" "Germline" "" "" "0" "" "" "g.207324558G>A" "" "pathogenic (recessive)" "" "0000839781" "3" "90" "1" "207495775" "207495776" "delins" "0" "00006" "CD55_000032" "g.207495775_207495776delinsCCTT" "" "{PMID:Ozen 2017:28657829}" "" "c.149_150delAAinsCCTT" "" "Germline" "" "" "0" "" "" "g.207322430_207322431delinsCCTT" "" "pathogenic (recessive)" "" "0000839782" "3" "90" "1" "207497984" "207497984" "dup" "0" "00006" "CD55_000024" "g.207497984dup" "" "{PMID:Ozen 2017:28657829}" "" "c.367insA" "" "Germline" "" "" "0" "" "" "g.207324639dup" "" "pathogenic (recessive)" "" "0000848498" "0" "30" "1" "207504450" "207504450" "subst" "3.86465E-5" "01943" "CD55_000036" "g.207504450A>C" "" "" "" "CD55(NM_001114752.2):c.665-3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857237" "0" "50" "1" "207499060" "207499060" "subst" "0" "01943" "CD55_000035" "g.207499060A>T" "" "" "" "CD55(NM_001114752.2):c.572A>T (p.N191I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883084" "0" "90" "1" "207497984" "207497984" "dup" "0" "02329" "CD55_000024" "g.207497984dup" "" "" "" "CD55(NM_000574.5):c.367dupA (p.T123Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883085" "0" "30" "1" "207498949" "207498949" "subst" "0.000445117" "02326" "CD55_000037" "g.207498949A>G" "" "" "" "CD55(NM_000574.3):c.479-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883086" "0" "30" "1" "207500097" "207500097" "subst" "0" "02326" "CD55_000038" "g.207500097G>T" "" "" "" "CD55(NM_000574.3):c.579G>T (p.G193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910915" "0" "30" "1" "207532883" "207532883" "dup" "0" "02326" "CD55_000039" "g.207532883dup" "" "" "" "CD55(NM_000574.3):c.1082-8dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923055" "0" "30" "1" "207510691" "207510691" "subst" "0.000508618" "02326" "CD55_000040" "g.207510691G>A" "" "" "" "CD55(NM_000574.3):c.997G>A (p.V333I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923056" "0" "50" "1" "207512763" "207512763" "subst" "4.55166E-5" "02326" "CD55_000041" "g.207512763G>C" "" "" "" "CD55(NM_000574.3):c.1081+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923057" "0" "30" "1" "207532881" "207532882" "ins" "0.000111393" "02326" "CD55_000042" "g.207532881_207532882insTTA" "" "" "" "CD55(NM_000574.3):c.1082-10_1082-9insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923058" "0" "30" "1" "207532938" "207532938" "subst" "2.57219E-5" "02326" "CD55_000043" "g.207532938A>G" "" "" "" "CD55(NM_000574.3):c.1129A>G (p.M377V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928099" "0" "10" "1" "207504467" "207504467" "subst" "0.00159939" "02326" "CD55_000006" "g.207504467G>C" "" "" "" "CD55(NM_000574.3):c.679G>C (p.A227P), CD55(NM_001114752.3):c.679G>C (p.A227P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947108" "0" "30" "1" "207497911" "207497911" "subst" "0.00107108" "02326" "CD55_000023" "g.207497911C>T" "" "" "" "CD55(NM_000574.3):c.294C>T (p.C98=), CD55(NM_001114752.2):c.294C>T (p.C98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987245" "0" "90" "1" "207495913" "207495913" "subst" "5.23304E-5" "00006" "CD55_000044" "g.207495913G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.207322568G>A" "" "pathogenic" "ACMG" ## 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 CD55 ## Count = 51 "{{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}}" "0000254681" "00004715" "30" "1077" "0" "1077" "0" "c.1077A>G" "r.(?)" "p.(Leu359=)" "" "0000256032" "00004715" "50" "691" "0" "691" "0" "c.691A>G" "r.(?)" "p.(Ile231Val)" "" "0000269890" "00004715" "30" "1081" "1107" "1081" "1107" "c.1081+1107C>T" "r.(=)" "p.(=)" "" "0000504975" "00004715" "30" "578" "20" "578" "20" "c.578+20A>G" "r.(=)" "p.(=)" "" "0000504976" "00004715" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Pro216=)" "" "0000504977" "00004715" "30" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Ala227Pro)" "" "0000504978" "00004715" "30" "979" "8" "979" "8" "c.979+8G>T" "r.(=)" "p.(=)" "" "0000504979" "00004715" "30" "1081" "8033" "1081" "8033" "c.1081+8033C>T" "r.(=)" "p.(=)" "" "0000504980" "00004715" "30" "1082" "-10" "1082" "-9" "c.1082-10_1082-9insTA" "r.(=)" "p.(=)" "" "0000504981" "00004715" "10" "1082" "-10" "1082" "-10" "c.1082-10dup" "r.(=)" "p.(=)" "" "0000620482" "00004715" "30" "1109" "0" "1109" "0" "c.1109T>G" "r.(?)" "p.(Leu370Trp)" "" "0000653863" "00004715" "30" "155" "0" "155" "0" "c.155G>C" "r.(?)" "p.(Arg52Pro)" "" "0000653864" "00004715" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Leu217=)" "" "0000653865" "00004715" "30" "1081" "1107" "1081" "1107" "c.1081+1107C>T" "r.(=)" "p.(=)" "" "0000675611" "00004715" "30" "1081" "1110" "1081" "1110" "c.1081+1110G>A" "r.(=)" "p.(=)" "" "0000687997" "00004715" "30" "255" "0" "255" "0" "c.255T>C" "r.(?)" "p.(Ser85=)" "" "0000687998" "00004715" "30" "1081" "1154" "1081" "1154" "c.1081+1154T>A" "r.(=)" "p.(=)" "" "0000717109" "00004715" "30" "155" "0" "155" "0" "c.155G>C" "r.(?)" "p.(Arg52Pro)" "" "0000717110" "00004715" "30" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Pro216Leu)" "" "0000799031" "00004715" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Cys98=)" "" "0000799032" "00004715" "90" "367" "0" "367" "0" "c.367dup" "r.(?)" "p.(Thr123Asnfs*6)" "" "0000799033" "00004715" "30" "1081" "1099" "1081" "1099" "c.1081+1099C>T" "r.(=)" "p.(=)" "" "0000799034" "00004715" "50" "1081" "1219" "1081" "1219" "c.1081+1219C>T" "r.(=)" "p.(=)" "" "0000839766" "00004715" "90" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Leu15Serfs*46)" "" "0000839767" "00004715" "90" "43" "0" "43" "0" "c.43del" "r.(?)" "p.(Leu15Serfs*46)" "" "0000839768" "00004715" "90" "261" "0" "261" "0" "c.261G>A" "r.261g>a" "p.Trp87*" "" "0000839771" "00004715" "90" "596" "0" "596" "0" "c.596C>T" "r.[579_622del,596c>u]" "p.[Tyr194Glnfs*7,Ser199Leu]" "5" "0000839772" "00004715" "90" "261" "0" "261" "0" "c.261G>A" "r.(?)" "p.(Trp87*)" "" "0000839773" "00004715" "90" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ser199Leu)" "" "0000839774" "00004715" "70" "263" "0" "263" "0" "c.263C>A" "r.261_286del" "p.Ser88*" "2" "0000839775" "00004715" "90" "149" "0" "150" "0" "c.149_150delinsCCTT" "r.(?)" "p.(Glu50AlafsTer12)" "" "0000839776" "00004715" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Gly37AlafsTer24)" "" "0000839777" "00004715" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Gly37AlafsTer24)" "" "0000839778" "00004715" "90" "800" "0" "800" "0" "c.800G>C" "r.(?)" "p.(Cys267Ser)" "" "0000839779" "00004715" "90" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Gly37AlafsTer24)" "" "0000839780" "00004715" "90" "287" "-1" "287" "-1" "c.287-1G>A" "r.spl" "p.?" "" "0000839781" "00004715" "90" "149" "0" "150" "0" "c.149_150delinsCCTT" "r.(?)" "p.(Glu50AlafsTer12)" "" "0000839782" "00004715" "90" "367" "0" "367" "0" "c.367dup" "r.(?)" "p.(Thr123AsnfsTer6)" "" "0000848498" "00004715" "30" "665" "-3" "665" "-3" "c.665-3A>C" "r.spl?" "p.?" "" "0000857237" "00004715" "50" "572" "0" "572" "0" "c.572A>T" "r.(?)" "p.(Asn191Ile)" "" "0000883084" "00004715" "90" "367" "0" "367" "0" "c.367dup" "r.(?)" "p.(Thr123Asnfs*6)" "" "0000883085" "00004715" "30" "479" "-18" "479" "-18" "c.479-18A>G" "r.(=)" "p.(=)" "" "0000883086" "00004715" "30" "579" "0" "579" "0" "c.579G>T" "r.(?)" "p.(Gly193=)" "" "0000910915" "00004715" "30" "1082" "-8" "1082" "-8" "c.1082-8dup" "r.(=)" "p.(=)" "" "0000923055" "00004715" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Ile)" "" "0000923056" "00004715" "50" "1081" "1" "1081" "1" "c.1081+1G>C" "r.spl?" "p.?" "" "0000923057" "00004715" "30" "1082" "-10" "1082" "-9" "c.1082-10_1082-9insTTA" "r.(=)" "p.(=)" "" "0000923058" "00004715" "30" "1129" "0" "1129" "0" "c.1129A>G" "r.(?)" "p.(Met377Val)" "" "0000928099" "00004715" "10" "679" "0" "679" "0" "c.679G>C" "r.(?)" "p.(Ala227Pro)" "" "0000947108" "00004715" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Cys98=)" "" "0000987245" "00004715" "90" "286" "1" "286" "1" "c.286+1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000404139" "0000839766" "0000404149" "0000839767" "0000404150" "0000839768" "0000404153" "0000839771" "0000404154" "0000839772" "0000404155" "0000839773" "0000404156" "0000839774" "0000404157" "0000839775" "0000404158" "0000839776" "0000404159" "0000839777" "0000404160" "0000839778" "0000404161" "0000839779" "0000404162" "0000839780" "0000404163" "0000839781" "0000404164" "0000839782" "0000452900" "0000987245"