### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GANAB) # 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}}" "GANAB" "glucosidase, alpha; neutral AB" "11" "q12.3" "unknown" "NG_053018.1" "UD_132319487476" "" "https://www.LOVD.nl/GANAB" "" "1" "4138" "23193" "104160" "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/GANAB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-07 08:12:52" "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}}" "00025245" "GANAB" "transcript variant 3" "005" "NM_198335.3" "" "NP_938149.2" "" "" "" "-127" "3890" "2901" "62414198" "62392298" "00006" "2017-11-15 21:45:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01512" "PCLD" "liver disease, polycystic (PCLD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-11-15 21:40:51" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "05345" "PKD3" "idney disease, polycystic, type 3 (PKD-3)" "AD" "600666" "" "" "autosomal dominant" "00006" "2017-11-15 22:10:46" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GANAB" "04222" "GANAB" "05345" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00133231" "" "" "" "5" "" "02311" "{PMID:Bess 2018:29243290}" "2-generation family, 6 affected (5F, M)" "F" "" "United States" "" "0" "" "" "" "FamT90PatII2" "00296471" "" "" "" "2" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 2 affected (F, M)" "M" "" "" "" "0" "" "" "" "FamM263PatI1" "00296472" "" "" "00296471" "1" "" "00006" "{PMID:Porath 2016:27259053}" "daughter" "F" "" "" "" "0" "" "" "" "FamM263PatII1" "00296473" "" "" "" "2" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 2 affected (2F)" "F" "" "" "" "0" "" "" "" "FamM641PatII1" "00296474" "" "" "00296473" "1" "" "00006" "{PMID:Porath 2016:27259053}" "sister" "F" "" "" "" "0" "" "" "" "FamM641PatII2" "00296475" "" "" "" "2" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 2 affected (2M)" "M" "" "" "" "0" "" "" "" "Fam290100PatI1" "00296476" "" "" "00296475" "1" "" "00006" "{PMID:Porath 2016:27259053}" "son" "M" "" "" "" "0" "" "" "" "Fam290100PatII1" "00296477" "" "" "" "3" "" "00006" "{PMID:Porath 2016:27259053}" "3-generation family, 3 affected (F, 2M)" "M" "" "" "" "0" "" "" "" "FamP1174PatI1" "00296478" "" "" "00296477" "1" "" "00006" "{PMID:Porath 2016:27259053}" "daughter" "F" "" "" "" "0" "" "" "" "FamP1174PatII1" "00296479" "" "" "00296477" "1" "" "00006" "{PMID:Porath 2016:27259053}" "grandson" "M" "" "" "" "0" "" "" "" "FamP1174PatIII1" "00296480" "" "" "" "4" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 4 affected (F, 3M)" "M" "" "" "" "0" "" "" "" "FamM656PatI1" "00296481" "" "" "00296480" "1" "" "00006" "{PMID:Porath 2016:27259053}" "son" "M" "" "" "" "0" "" "" "" "FamM656PatII1" "00296482" "" "" "00296480" "1" "" "00006" "{PMID:Porath 2016:27259053}" "daughter" "F" "" "" "" "0" "" "" "" "FamM656PatII2" "00296483" "" "" "00296480" "1" "" "00006" "{PMID:Porath 2016:27259053}" "son" "M" "" "" "" "0" "" "" "" "FamM656PatII3" "00296484" "" "" "" "1" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "FamPK20016PatII1" "00296485" "" "" "" "1" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 1 affected" "F" "" "" "" "0" "" "" "" "FamPK20017PatII1" "00296486" "" "" "" "3" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 3 affected (2F, M)" "F" "" "" "" "0" "" "" "" "FamP1073PatI2" "00296487" "" "" "00296486" "1" "" "00006" "{PMID:Porath 2016:27259053}" "daughter" "F" "" "" "" "0" "" "" "" "FamP1073PatII1" "00296488" "" "" "00296486" "1" "" "00006" "{PMID:Porath 2016:27259053}" "son" "M" "" "" "" "0" "" "" "" "FamP1073PatII2" "00296489" "" "" "" "2" "" "00006" "{PMID:Porath 2016:27259053}" "2-generation family, 2 affected (2F)" "F" "" "" "" "0" "" "" "" "FamM472PatII1" "00296490" "" "" "00296489" "1" "" "00006" "{PMID:Porath 2016:27259053}" "sister" "F" "" "" "" "0" "" "" "" "FamM472PatII2" "00296492" "" "" "" "1" "" "00006" "{PMID:Waldrop 2019:30792735}" "3-generation family, 3 affected (father and paternal grandmother ADPKD history untested)" "F" "" "United States" "" "0" "" "" "" "Pat1" "00296493" "" "" "" "1" "" "00006" "{DOI:Wilson 2020:10.1016/j.ekir.2020.01.009}" "" "F" "" "United States" "" "0" "" "" "" "YU331" "00410567" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat29" "00453310" "" "" "" "1" "" "00006" "{PMID:Cappi 2016:27023170}" "analysis 20 sporadic obsessive-compulsive disorder cases" "" "" "Brazil" "" "0" "" "" "" "OCD032201" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00133231" "01512" "00296471" "04222" "00296472" "04222" "00296473" "04222" "00296474" "04222" "00296475" "04222" "00296476" "04222" "00296477" "04222" "00296478" "04222" "00296479" "04222" "00296480" "04222" "00296481" "04222" "00296482" "04222" "00296483" "04222" "00296484" "04222" "00296485" "04222" "00296486" "04222" "00296487" "04222" "00296488" "04222" "00296489" "04222" "00296490" "04222" "00296492" "04222" "00296493" "04222" "00410567" "00198" "00453310" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01512, 04222, 05345 ## Count = 25 "{{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}}" "0000106394" "01512" "00133231" "02311" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223878" "04222" "00296471" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223879" "04222" "00296472" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223880" "04222" "00296473" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223881" "04222" "00296474" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223882" "04222" "00296475" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223883" "04222" "00296476" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223884" "04222" "00296477" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223885" "04222" "00296478" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223886" "04222" "00296479" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223887" "04222" "00296480" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223888" "04222" "00296481" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223889" "04222" "00296482" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223890" "04222" "00296483" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223891" "04222" "00296484" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223892" "04222" "00296485" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223893" "04222" "00296486" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223894" "04222" "00296487" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223895" "04222" "00296488" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223896" "04222" "00296489" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223897" "04222" "00296490" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223898" "04222" "00296492" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000223899" "04222" "00296493" "00006" "Unknown" "52y" "see paper; ..." "" "" "" "" "" "" "" "" "PKD3" "polycystic kidney disease" "" "0000302670" "00198" "00410567" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset adulthood, liver cysts, family history" "" "" "" "" "" "" "" "" "PKD3" "" "" "0000341973" "00198" "00453310" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "obsessive-compulsive disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000134066" "00133231" "1" "02311" "02311" "2017-11-13 20:56:38" "" "" "SEQ" "DNA" "" "" "0000297581" "00296471" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297582" "00296472" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297583" "00296473" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297584" "00296474" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297585" "00296475" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297586" "00296476" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297587" "00296477" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297588" "00296478" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297589" "00296479" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297590" "00296480" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297591" "00296481" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297592" "00296482" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297593" "00296483" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297594" "00296484" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297595" "00296485" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297596" "00296486" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297597" "00296487" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297598" "00296488" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297599" "00296489" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297600" "00296490" "1" "00006" "00006" "2020-04-07 08:57:40" "" "" "SEQ" "DNA" "" "" "0000297602" "00296492" "1" "00006" "00006" "2020-04-07 09:24:43" "" "" "SEQ" "DNA" "" "" "0000297603" "00296493" "1" "00006" "00006" "2020-04-07 09:42:45" "" "" "SEQ" "DNA" "" "WES" "0000411832" "00410567" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454921" "00453310" "1" "00006" "00006" "2024-08-17 18:11:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000297581" "GANAB" "0000297582" "GANAB" "0000297583" "GANAB" "0000297584" "GANAB" "0000297585" "GANAB" "0000297586" "GANAB" "0000297587" "GANAB" "0000297588" "GANAB" "0000297589" "GANAB" "0000297590" "GANAB" "0000297591" "GANAB" "0000297592" "GANAB" "0000297593" "GANAB" "0000297594" "GANAB" "0000297595" "GANAB" "0000297596" "GANAB" "0000297597" "GANAB" "0000297598" "GANAB" "0000297599" "GANAB" "0000297600" "GANAB" "0000297602" "GANAB" "0000297602" "PKD1" "0000297603" "GANAB" ## 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 = 84 "{{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}}" "0000223744" "20" "90" "11" "62393525" "62393533" "del" "0" "02311" "GANAB_000001" "g.62393525_62393533del" "" "{PMID:Bess 2018:29243290}" "" "2791+4_2791+12delAGTGACCAA" "minigene splice assay shows exon 24 skipping" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.62626053_62626061del" "" "pathogenic (dominant)" "" "0000289668" "0" "30" "11" "62415852" "62415852" "subst" "0.000158484" "01943" "INTS5_000003" "g.62415852T>C" "" "" "" "INTS5(NM_030628.2):c.1700A>G (p.Q567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62648380T>C" "" "likely benign" "" "0000289669" "0" "30" "11" "62414579" "62414579" "subst" "2.03095E-5" "01943" "INTS5_000001" "g.62414579G>A" "" "" "" "INTS5(NM_030628.2):c.2973C>T (p.V991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62647107G>A" "" "likely benign" "" "0000322267" "0" "50" "11" "62393883" "62393883" "subst" "0.00256225" "01804" "GANAB_000002" "g.62393883G>A" "" "" "" "GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62626411G>A" "" "VUS" "" "0000322268" "0" "50" "11" "62414052" "62414052" "subst" "0.000140213" "01804" "GANAB_000003" "g.62414052A>C" "" "" "" "GANAB(NM_001278192.1):c.20T>G (p.(Val7Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.62646580A>C" "" "VUS" "" "0000544765" "0" "50" "11" "62387966" "62387966" "subst" "0" "01804" "B3GAT3_000018" "g.62387966T>C" "" "" "" "B3GAT3(NM_012200.3):c.257+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620494T>C" "" "VUS" "" "0000544766" "0" "30" "11" "62388013" "62388013" "subst" "0.000238779" "02329" "B3GAT3_000019" "g.62388013G>A" "" "" "" "B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620541G>A" "" "likely benign" "" "0000544768" "0" "30" "11" "62388059" "62388059" "subst" "0.000136713" "01804" "B3GAT3_000021" "g.62388059G>A" "" "" "" "B3GAT3(NM_012200.3):c.167C>T (p.(Ala56Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620587G>A" "" "likely benign" "" "0000544769" "0" "90" "11" "62389419" "62389419" "subst" "2.07424E-5" "02329" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62621947T>A" "" "pathogenic" "" "0000544771" "0" "30" "11" "62394565" "62394565" "subst" "0.000455159" "01943" "B3GAT3_000023" "g.62394565G>A" "" "" "" "GANAB(NM_001329224.1):c.1554C>T (p.D518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62627093G>A" "" "likely benign" "" "0000544772" "0" "30" "11" "62396248" "62396248" "subst" "0.000593414" "01943" "GANAB_000004" "g.62396248C>T" "" "" "" "GANAB(NM_001329224.1):c.1450G>A (p.V484I), GANAB(NM_198335.4):c.2239G>A (p.V747I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62628776C>T" "" "likely benign" "" "0000544773" "0" "70" "11" "62397107" "62397107" "subst" "0" "02327" "GANAB_000005" "g.62397107C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62629635C>T" "" "likely pathogenic" "" "0000544774" "0" "30" "11" "62398200" "62398200" "subst" "0.000231555" "01943" "GANAB_000006" "g.62398200T>C" "" "" "" "GANAB(NM_001329224.1):c.536A>G (p.N179S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62630728T>C" "" "likely benign" "" "0000613489" "0" "70" "11" "62388051" "62388051" "subst" "1.24341E-5" "01943" "B3GAT3_000026" "g.62388051G>A" "" "" "" "B3GAT3(NM_001288723.1):c.175C>T (p.R59*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620579G>A" "" "likely pathogenic" "" "0000613490" "0" "70" "11" "62389419" "62389419" "subst" "2.07424E-5" "02325" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62621947T>A" "" "likely pathogenic" "" "0000622658" "0" "30" "11" "62388013" "62388013" "subst" "0.000238779" "01943" "B3GAT3_000019" "g.62388013G>A" "" "" "" "B3GAT3(NM_001288723.1):c.213C>T (p.P71=), B3GAT3(NM_012200.4):c.213C>T (p.P71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62620541G>A" "" "likely benign" "" "0000622659" "0" "30" "11" "62402420" "62402420" "subst" "0" "01943" "GANAB_000007" "g.62402420C>T" "" "" "" "GANAB(NM_001329222.1):c.142G>A (p.G48R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62634948C>T" "" "likely benign" "" "0000656827" "0" "50" "11" "62394062" "62394062" "subst" "0" "02327" "B3GAT3_000028" "g.62394062A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.62626590A>G" "" "VUS" "" "0000660185" "0" "90" "11" "62398260" "62398260" "subst" "0" "00006" "GANAB_000014" "g.62398260C>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62630788C>A" "" "pathogenic (dominant)" "" "0000660186" "11" "90" "11" "62398260" "62398260" "subst" "0" "00006" "GANAB_000014" "g.62398260C>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62630788C>A" "" "pathogenic (dominant)" "" "0000660187" "1" "90" "11" "62396753" "62396754" "del" "0" "00006" "GANAB_000013" "g.62396753_62396754del" "" "{PMID:Porath 2016:27259053}" "" "1914_1915delAG" "" "Germline" "yes" "" "0" "" "" "g.62629281_62629282del" "" "pathogenic (dominant)" "" "0000660188" "1" "90" "11" "62396753" "62396754" "del" "0" "00006" "GANAB_000013" "g.62396753_62396754del" "" "{PMID:Porath 2016:27259053}" "" "1914_1915delAG" "" "Germline" "yes" "" "0" "" "" "g.62629281_62629282del" "" "pathogenic (dominant)" "" "0000660189" "0" "90" "11" "62396753" "62396754" "del" "0" "00006" "GANAB_000013" "g.62396753_62396754del" "" "{PMID:Porath 2016:27259053}" "" "1914_1915delAG" "" "Germline" "yes" "" "0" "" "" "g.62629281_62629282del" "" "pathogenic (dominant)" "" "0000660190" "11" "90" "11" "62396753" "62396754" "del" "0" "00006" "GANAB_000013" "g.62396753_62396754del" "" "{PMID:Porath 2016:27259053}" "" "1914_1915delAG" "" "Germline" "yes" "" "0" "" "" "g.62629281_62629282del" "" "pathogenic (dominant)" "" "0000660191" "0" "90" "11" "62398504" "62398504" "subst" "0" "00006" "GANAB_000015" "g.62398504G>C" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62631032G>C" "" "pathogenic (dominant)" "" "0000660192" "11" "90" "11" "62398504" "62398504" "subst" "0" "00006" "GANAB_000015" "g.62398504G>C" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62631032G>C" "" "pathogenic (dominant)" "" "0000660193" "21" "90" "11" "62398504" "62398504" "subst" "0" "00006" "GANAB_000015" "g.62398504G>C" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62631032G>C" "" "pathogenic (dominant)" "" "0000660194" "0" "90" "11" "62393802" "62393807" "del" "0" "00006" "GANAB_000010" "g.62393802_62393807del" "" "{PMID:Porath 2016:27259053}" "" "2690+2_+7del" "" "Germline" "yes" "" "0" "" "" "g.62626330_62626335del" "" "pathogenic (dominant)" "" "0000660195" "11" "90" "11" "62393802" "62393807" "del" "0" "00006" "GANAB_000010" "g.62393802_62393807del" "" "{PMID:Porath 2016:27259053}" "" "2690+2_+7del" "" "Germline" "yes" "" "0" "" "" "g.62626330_62626335del" "" "pathogenic (dominant)" "" "0000660196" "11" "90" "11" "62393802" "62393807" "del" "0" "00006" "GANAB_000010" "g.62393802_62393807del" "" "{PMID:Porath 2016:27259053}" "" "2690+2_+7del" "" "Germline" "yes" "" "0" "" "" "g.62626330_62626335del" "" "pathogenic (dominant)" "" "0000660197" "11" "90" "11" "62393802" "62393807" "del" "0" "00006" "GANAB_000010" "g.62393802_62393807del" "" "{PMID:Porath 2016:27259053}" "" "2690+2_+7del" "" "Germline" "yes" "" "0" "" "" "g.62626330_62626335del" "" "pathogenic (dominant)" "" "0000660198" "0" "90" "11" "62407204" "62407204" "subst" "0" "00006" "GANAB_000017" "g.62407204C>G" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62639732C>G" "" "pathogenic (dominant)" "" "0000660199" "0" "90" "11" "62396311" "62396311" "subst" "0" "00006" "GANAB_000012" "g.62396311G>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62628839G>A" "" "pathogenic (dominant)" "" "0000660200" "0" "90" "11" "62394105" "62394105" "subst" "0" "00006" "GANAB_000011" "g.62394105G>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62626633G>A" "" "pathogenic (dominant)" "" "0000660201" "21" "90" "11" "62394105" "62394105" "subst" "0" "00006" "GANAB_000011" "g.62394105G>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62626633G>A" "" "pathogenic (dominant)" "" "0000660202" "21" "90" "11" "62394105" "62394105" "subst" "0" "00006" "GANAB_000011" "g.62394105G>A" "" "{PMID:Porath 2016:27259053}" "" "" "" "Germline" "yes" "" "0" "" "" "g.62626633G>A" "" "pathogenic (dominant)" "" "0000660203" "1" "90" "11" "62406933" "62406934" "del" "0" "00006" "GANAB_000016" "g.62406933_62406934del" "" "{PMID:Porath 2016:27259053}" "" "152_153delGA" "" "Germline" "yes" "" "0" "" "" "g.62639461_62639462del" "" "pathogenic (dominant)" "" "0000660204" "1" "90" "11" "62406933" "62406934" "del" "0" "00006" "GANAB_000016" "g.62406933_62406934del" "" "{PMID:Porath 2016:27259053}" "" "152_153delGA" "" "Germline" "yes" "" "0" "" "" "g.62639461_62639462del" "" "pathogenic (dominant)" "" "0000660206" "10" "90" "11" "62406902" "62406902" "subst" "0" "00006" "GANAB_000008" "g.62406902G>A" "" "{PMID:Waldrop 2019:30792735}" "" "" "" "Germline" "" "" "0" "" "" "g.62639430G>A" "" "pathogenic (dominant)" "" "0000660208" "0" "90" "11" "62395927" "62422579" "del" "0" "00006" "GANAB_000009" "g.62395927_62422579del" "" "{DOI:Wilson 2020:10.1016/j.ekir.2020.01.009}" "" "g.62395884_62422536del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62628455_62655107del" "{CV-SCV:000995031}" "pathogenic (dominant)" "" "0000679239" "0" "30" "11" "62397897" "62397897" "subst" "0.00184101" "01943" "GANAB_000018" "g.62397897A>G" "" "" "" "GANAB(NM_001329224.1):c.744T>C (p.Y248=), GANAB(NM_198335.4):c.1533T>C (p.Y511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723535" "0" "50" "11" "62388122" "62388122" "subst" "2.88846E-5" "02325" "B3GAT3_000034" "g.62388122G>A" "" "" "" "B3GAT3(NM_012200.4):c.104C>T (p.P35L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723536" "0" "70" "11" "62389419" "62389419" "subst" "2.07424E-5" "01943" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723537" "0" "50" "11" "62393629" "62393629" "subst" "0" "02325" "B3GAT3_000035" "g.62393629T>C" "" "" "" "GANAB(NM_198335.4):c.2699A>G (p.D900G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723538" "0" "30" "11" "62397672" "62397672" "subst" "0.000830538" "02326" "GANAB_000019" "g.62397672A>G" "" "" "" "GANAB(NM_001329224.1):c.867T>C (p.Y289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723539" "0" "30" "11" "62398274" "62398274" "subst" "0.0030157" "02326" "GANAB_000020" "g.62398274G>A" "" "" "" "GANAB(NM_001329224.1):c.462C>T (p.G154=), GANAB(NM_198334.3):c.1185C>T (p.(Gly395=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805236" "0" "30" "11" "62414017" "62414017" "subst" "0.0028278" "02326" "INTS5_000004" "g.62414017G>A" "" "" "" "GANAB(NM_198335.4):c.38+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853061" "0" "30" "11" "62396262" "62396262" "subst" "8.12546E-6" "02326" "GANAB_000021" "g.62396262C>T" "" "" "" "GANAB(NM_198335.4):c.2225G>A (p.R742Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853062" "0" "30" "11" "62396763" "62396763" "subst" "0.000195217" "01943" "GANAB_000022" "g.62396763G>C" "" "" "" "GANAB(NM_001329224.1):c.1116C>G (p.A372=), GANAB(NM_198335.4):c.1905C>G (p.A635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853063" "0" "30" "11" "62402373" "62402373" "subst" "4.06068E-6" "02327" "GANAB_000023" "g.62402373T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853064" "0" "10" "11" "62402393" "62402393" "subst" "0.00481597" "02326" "GANAB_000024" "g.62402393G>A" "" "" "" "GANAB(NM_198335.4):c.460C>T (p.R154W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862609" "0" "10" "11" "62393883" "62393883" "subst" "0.00256225" "02326" "GANAB_000002" "g.62393883G>A" "" "" "" "GANAB(NM_001278192.1):c.2272C>T (p.(His758Tyr)), GANAB(NM_198335.4):c.2614C>T (p.H872Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862610" "0" "10" "11" "62396248" "62396248" "subst" "0.000593414" "02326" "GANAB_000004" "g.62396248C>T" "" "" "" "GANAB(NM_001329224.1):c.1450G>A (p.V484I), GANAB(NM_198335.4):c.2239G>A (p.V747I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000869069" "21" "70" "11" "62414034" "62414034" "subst" "0" "00006" "GANAB_000025" "g.62414034C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM1, PM2, PP3, PP5, PP4, PP1" "Germline" "" "" "0" "" "" "g.62646562C>T" "" "likely pathogenic (recessive)" "" "0000890013" "0" "30" "11" "62388118" "62388118" "subst" "0.00161664" "02329" "B3GAT3_000038" "g.62388118G>A" "" "" "" "B3GAT3(NM_012200.4):c.108C>T (p.P36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890014" "0" "30" "11" "62396763" "62396763" "subst" "0.000195217" "02326" "GANAB_000022" "g.62396763G>C" "" "" "" "GANAB(NM_001329224.1):c.1116C>G (p.A372=), GANAB(NM_198335.4):c.1905C>G (p.A635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890015" "0" "30" "11" "62397735" "62397735" "subst" "3.66996E-5" "02326" "GANAB_000026" "g.62397735G>A" "" "" "" "GANAB(NM_198335.4):c.1593C>T (p.Y531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890016" "0" "30" "11" "62397897" "62397897" "subst" "0.00184101" "02326" "GANAB_000018" "g.62397897A>G" "" "" "" "GANAB(NM_001329224.1):c.744T>C (p.Y248=), GANAB(NM_198335.4):c.1533T>C (p.Y511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890017" "0" "30" "11" "62397965" "62397965" "subst" "0.000686724" "02326" "GANAB_000027" "g.62397965C>T" "" "" "" "GANAB(NM_198335.4):c.1465G>A (p.V489I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890018" "0" "30" "11" "62398244" "62398244" "subst" "2.03181E-5" "02326" "GANAB_000028" "g.62398244G>A" "" "" "" "GANAB(NM_198335.4):c.1281C>T (p.D427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890019" "0" "30" "11" "62400639" "62400639" "subst" "9.34109E-5" "02326" "GANAB_000029" "g.62400639G>A" "" "" "" "GANAB(NM_198335.4):c.784+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890020" "0" "30" "11" "62402335" "62402335" "subst" "0.00162446" "02326" "GANAB_000030" "g.62402335C>T" "" "" "" "GANAB(NM_198335.4):c.518G>A (p.R173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890021" "0" "10" "11" "62406494" "62406494" "subst" "0.00147033" "02326" "GANAB_000031" "g.62406494C>T" "" "" "" "GANAB(NM_198335.4):c.341G>A (p.R114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890022" "0" "50" "11" "62407171" "62407171" "subst" "0" "02325" "GANAB_000032" "g.62407171C>G" "" "" "" "GANAB(NM_198335.4):c.71G>C (p.G24A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913634" "0" "90" "11" "62396329" "62396329" "subst" "0" "02327" "GANAB_000033" "g.62396329G>A" "" "" "" "GANAB(NM_198335.4):c.2158C>T (p.R720*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913635" "0" "30" "11" "62398498" "62398498" "subst" "0" "02325" "GANAB_000034" "g.62398498G>A" "" "" "" "GANAB(NM_198335.4):c.1216+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913636" "0" "10" "11" "62400660" "62400660" "subst" "0.00314769" "02326" "GANAB_000035" "g.62400660C>T" "" "" "" "GANAB(NM_198335.4):c.780G>A (p.P260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913637" "0" "90" "11" "62406561" "62406561" "subst" "4.06101E-6" "02326" "GANAB_000036" "g.62406561G>A" "" "" "" "GANAB(NM_198335.4):c.274C>T (p.Q92*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913638" "0" "10" "11" "62407167" "62407167" "subst" "0.00313104" "02326" "GANAB_000037" "g.62407167G>C" "" "" "" "GANAB(NM_198335.4):c.75C>G (p.V25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925451" "0" "50" "11" "62388114" "62388114" "subst" "0" "02327" "B3GAT3_000039" "g.62388114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925452" "0" "30" "11" "62394376" "62394376" "subst" "6.0987E-5" "02326" "B3GAT3_000040" "g.62394376G>T" "" "" "" "GANAB(NM_198335.4):c.2419C>A (p.H807N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925453" "0" "50" "11" "62397721" "62397721" "subst" "0" "02326" "GANAB_000038" "g.62397721T>G" "" "" "" "GANAB(NM_198335.4):c.1607A>C (p.N536T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925454" "0" "50" "11" "62400713" "62400713" "subst" "1.62433E-5" "02326" "GANAB_000039" "g.62400713C>G" "" "" "" "GANAB(NM_198335.4):c.727G>C (p.D243H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925455" "0" "30" "11" "62406440" "62406440" "subst" "0.00183462" "02326" "GANAB_000040" "g.62406440T>C" "" "" "" "GANAB(NM_198335.4):c.380+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929931" "0" "30" "11" "62393590" "62393590" "subst" "3.65512E-5" "02326" "B3GAT3_000041" "g.62393590C>T" "" "" "" "GANAB(NM_198335.4):c.2738G>A (p.R913Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929932" "0" "50" "11" "62397962" "62397962" "subst" "0" "02326" "GANAB_000041" "g.62397962C>A" "" "" "" "GANAB(NM_198335.4):c.1468G>T (p.D490Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929933" "0" "50" "11" "62398276" "62398276" "subst" "8.14273E-6" "02325" "GANAB_000042" "g.62398276C>T" "" "" "" "GANAB(NM_198335.4):c.1249G>A (p.G417S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949734" "0" "90" "11" "62389419" "62389419" "subst" "2.07424E-5" "01804" "B3GAT3_000022" "g.62389419T>A" "" "" "" "B3GAT3(NM_001288721.1):c.-260A>T (p.(=)), B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.4):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966460" "0" "90" "11" "62396329" "62396329" "subst" "0" "02326" "GANAB_000033" "g.62396329G>A" "" "" "" "GANAB(NM_198335.4):c.2158C>T (p.R720*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979697" "0" "30" "11" "62398274" "62398274" "subst" "0.0030157" "01804" "GANAB_000020" "g.62398274G>A" "" "" "" "GANAB(NM_001329224.1):c.462C>T (p.G154=), GANAB(NM_198334.3):c.1185C>T (p.(Gly395=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979698" "0" "50" "11" "62416609" "62416609" "subst" "0" "01804" "INTS5_000005" "g.62416609G>T" "" "" "" "INTS5(NM_030628.1):c.943C>A (p.(Arg315=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989871" "0" "50" "11" "62400166" "62400166" "subst" "0" "00006" "GANAB_000043" "g.62400166C>T" "" "{PMID:Cappi 2016:27023170}" "" "L311L" "" "De novo" "" "" "0" "" "" "g.62632694C>T" "" "VUS" "" "0001038560" "0" "50" "11" "62389362" "62389362" "subst" "1.24216E-5" "01804" "B3GAT3_000047" "g.62389362G>A" "" "" "" "B3GAT3(NM_012200.4):c.58C>T (p.(Leu20Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038561" "0" "30" "11" "62396263" "62396263" "subst" "1.62517E-5" "01804" "GANAB_000044" "g.62396263G>A" "" "" "" "GANAB(NM_198334.3):c.2158C>T (p.(Arg720Trp))" "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 GANAB ## Count = 84 "{{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}}" "0000223744" "00025245" "90" "2791" "4" "2791" "12" "c.2791+4_2791+12del" "r.(2691_2791del)" "p.(Ser897Argfs*12)" "24i" "0000289668" "00025245" "30" "-1781" "0" "-1781" "0" "c.-1781A>G" "r.(?)" "p.(=)" "" "0000289669" "00025245" "30" "-508" "0" "-508" "0" "c.-508C>T" "r.(?)" "p.(=)" "" "0000322267" "00025245" "50" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(His872Tyr)" "" "0000322268" "00025245" "50" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Val7Gly)" "" "0000544765" "00025245" "50" "8222" "0" "8222" "0" "c.*5321A>G" "r.(=)" "p.(=)" "" "0000544766" "00025245" "30" "8175" "0" "8175" "0" "c.*5274C>T" "r.(=)" "p.(=)" "" "0000544768" "00025245" "30" "8129" "0" "8129" "0" "c.*5228C>T" "r.(=)" "p.(=)" "" "0000544769" "00025245" "90" "6769" "0" "6769" "0" "c.*3868A>T" "r.(=)" "p.(=)" "" "0000544771" "00025245" "30" "2343" "0" "2343" "0" "c.2343C>T" "r.(?)" "p.(Asp781=)" "" "0000544772" "00025245" "30" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Ile)" "" "0000544773" "00025245" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Arg618His)" "" "0000544774" "00025245" "30" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Asn442Ser)" "" "0000613489" "00025245" "70" "8137" "0" "8137" "0" "c.*5236C>T" "r.(=)" "p.(=)" "" "0000613490" "00025245" "70" "6769" "0" "6769" "0" "c.*3868A>T" "r.(=)" "p.(=)" "" "0000622658" "00025245" "30" "8175" "0" "8175" "0" "c.*5274C>T" "r.(=)" "p.(=)" "" "0000622659" "00025245" "30" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Gly145Arg)" "" "0000656827" "00025245" "50" "2558" "0" "2558" "0" "c.2558T>C" "r.(?)" "p.(Phe853Ser)" "" "0000660185" "00025245" "90" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Arg422Leu)" "" "0000660186" "00025245" "90" "1265" "0" "1265" "0" "c.1265G>T" "r.(?)" "p.(Arg422Leu)" "" "0000660187" "00025245" "90" "1914" "0" "1915" "0" "c.1914_1915del" "r.(?)" "p.(Asp640Glnfs*77)" "" "0000660188" "00025245" "90" "1914" "0" "1915" "0" "c.1914_1915del" "r.(?)" "p.(Asp640Glnfs*77)" "" "0000660189" "00025245" "90" "1914" "0" "1915" "0" "c.1914_1915del" "r.(?)" "p.(Asp640Glnfs*77)" "" "0000660190" "00025245" "90" "1914" "0" "1915" "0" "c.1914_1915del" "r.(?)" "p.(Asp640Glnfs*77)" "" "0000660191" "00025245" "90" "1214" "0" "1214" "0" "c.1214C>G" "r.(?)" "p.(Thr405Arg)" "" "0000660192" "00025245" "90" "1214" "0" "1214" "0" "c.1214C>G" "r.(?)" "p.(Thr405Arg)" "" "0000660193" "00025245" "90" "1214" "0" "1214" "0" "c.1214C>G" "r.(?)" "p.(Thr405Arg)" "" "0000660194" "00025245" "90" "2690" "2" "2690" "7" "c.2690+2_2690+7del" "r.spl" "p.?" "" "0000660195" "00025245" "90" "2690" "2" "2690" "7" "c.2690+2_2690+7del" "r.spl" "p.?" "" "0000660196" "00025245" "90" "2690" "2" "2690" "7" "c.2690+2_2690+7del" "r.spl" "p.?" "" "0000660197" "00025245" "90" "2690" "2" "2690" "7" "c.2690+2_2690+7del" "r.spl" "p.?" "" "0000660198" "00025245" "90" "39" "-1" "39" "-1" "c.39-1G>C" "r.spl" "p.?" "" "0000660199" "00025245" "90" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Arg726*)" "" "0000660200" "00025245" "90" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Arg839Trp)" "" "0000660201" "00025245" "90" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Arg839Trp)" "" "0000660202" "00025245" "90" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Arg839Trp)" "" "0000660203" "00025245" "90" "152" "0" "153" "0" "c.152_153del" "r.(?)" "p.(Arg51Lysfs*21)" "" "0000660204" "00025245" "90" "152" "0" "153" "0" "c.152_153del" "r.(?)" "p.(Arg51Lysfs*21)" "" "0000660206" "00025245" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "" "0000660208" "00025245" "90" "-8465" "0" "2246" "357" "c.-8465_2246+357del" "r.0?" "p.0?" "_1_18i" "0000679239" "00025245" "30" "1533" "0" "1533" "0" "c.1533T>C" "r.(?)" "p.(Tyr511=)" "" "0000723535" "00025245" "50" "8066" "0" "8066" "0" "c.*5165C>T" "r.(=)" "p.(=)" "" "0000723536" "00025245" "70" "6769" "0" "6769" "0" "c.*3868A>T" "r.(=)" "p.(=)" "" "0000723537" "00025245" "50" "2699" "0" "2699" "0" "c.2699A>G" "r.(?)" "p.(Asp900Gly)" "" "0000723538" "00025245" "30" "1656" "0" "1656" "0" "c.1656T>C" "r.(?)" "p.(Tyr552=)" "" "0000723539" "00025245" "30" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(Gly417=)" "" "0000805236" "00025245" "30" "38" "17" "38" "17" "c.38+17C>T" "r.(=)" "p.(=)" "" "0000853061" "00025245" "30" "2225" "0" "2225" "0" "c.2225G>A" "r.(?)" "p.(Arg742Gln)" "" "0000853062" "00025245" "30" "1905" "0" "1905" "0" "c.1905C>G" "r.(?)" "p.(Ala635=)" "" "0000853063" "00025245" "30" "480" "0" "480" "0" "c.480A>G" "r.(?)" "p.(Leu160=)" "" "0000853064" "00025245" "10" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Trp)" "" "0000862609" "00025245" "10" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(His872Tyr)" "" "0000862610" "00025245" "10" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Ile)" "" "0000869069" "00025245" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13Gln)" "" "0000890013" "00025245" "30" "8070" "0" "8070" "0" "c.*5169C>T" "r.(=)" "p.(=)" "" "0000890014" "00025245" "30" "1905" "0" "1905" "0" "c.1905C>G" "r.(?)" "p.(Ala635=)" "" "0000890015" "00025245" "30" "1593" "0" "1593" "0" "c.1593C>T" "r.(?)" "p.(Tyr531=)" "" "0000890016" "00025245" "30" "1533" "0" "1533" "0" "c.1533T>C" "r.(?)" "p.(Tyr511=)" "" "0000890017" "00025245" "30" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Val489Ile)" "" "0000890018" "00025245" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Asp427=)" "" "0000890019" "00025245" "30" "784" "17" "784" "17" "c.784+17C>T" "r.(=)" "p.(=)" "" "0000890020" "00025245" "30" "518" "0" "518" "0" "c.518G>A" "r.(?)" "p.(Arg173Gln)" "" "0000890021" "00025245" "10" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Arg114His)" "" "0000890022" "00025245" "50" "71" "0" "71" "0" "c.71G>C" "r.(?)" "p.(Gly24Ala)" "" "0000913634" "00025245" "90" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720*)" "" "0000913635" "00025245" "30" "1216" "4" "1216" "4" "c.1216+4C>T" "r.spl?" "p.?" "" "0000913636" "00025245" "10" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(Pro260=)" "" "0000913637" "00025245" "90" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Gln92*)" "" "0000913638" "00025245" "10" "75" "0" "75" "0" "c.75C>G" "r.(?)" "p.(Val25=)" "" "0000925451" "00025245" "50" "8074" "0" "8074" "0" "c.*5173C>T" "r.(=)" "p.(=)" "" "0000925452" "00025245" "30" "2419" "0" "2419" "0" "c.2419C>A" "r.(?)" "p.(His807Asn)" "" "0000925453" "00025245" "50" "1607" "0" "1607" "0" "c.1607A>C" "r.(?)" "p.(Asn536Thr)" "" "0000925454" "00025245" "50" "727" "0" "727" "0" "c.727G>C" "r.(?)" "p.(Asp243His)" "" "0000925455" "00025245" "30" "380" "15" "380" "15" "c.380+15A>G" "r.(=)" "p.(=)" "" "0000929931" "00025245" "30" "2738" "0" "2738" "0" "c.2738G>A" "r.(?)" "p.(Arg913Gln)" "" "0000929932" "00025245" "50" "1468" "0" "1468" "0" "c.1468G>T" "r.(?)" "p.(Asp490Tyr)" "" "0000929933" "00025245" "50" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Gly417Ser)" "" "0000949734" "00025245" "90" "6769" "0" "6769" "0" "c.*3868A>T" "r.(=)" "p.(=)" "" "0000966460" "00025245" "90" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720*)" "" "0000979697" "00025245" "30" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(Gly417=)" "" "0000979698" "00025245" "50" "-2538" "0" "-2538" "0" "c.-2538C>A" "r.(?)" "p.(=)" "" "0000989871" "00025245" "50" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Leu311=)" "" "0001038560" "00025245" "50" "6826" "0" "6826" "0" "c.*3925C>T" "r.(=)" "p.(=)" "" "0001038561" "00025245" "30" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000134066" "0000223744" "0000297581" "0000660185" "0000297582" "0000660186" "0000297583" "0000660187" "0000297584" "0000660188" "0000297585" "0000660189" "0000297586" "0000660190" "0000297587" "0000660191" "0000297588" "0000660192" "0000297589" "0000660193" "0000297590" "0000660194" "0000297591" "0000660195" "0000297592" "0000660196" "0000297593" "0000660197" "0000297594" "0000660198" "0000297595" "0000660199" "0000297596" "0000660200" "0000297597" "0000660201" "0000297598" "0000660202" "0000297599" "0000660203" "0000297600" "0000660204" "0000297602" "0000660206" "0000297603" "0000660208" "0000411832" "0000869069" "0000454921" "0000989871"