### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GBA2) # 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}}" "GBA2" "glucosidase, beta (bile acid) 2" "9" "p13.2" "unknown" "NG_033899.1" "UD_132446203828" "" "https://www.LOVD.nl/GBA2" "" "1" "18986" "57704" "609471" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-18 14:04:07" "00000" "2025-11-01 13:22:20" ## 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}}" "00008381" "GBA2" "glucosidase, beta (bile acid) 2" "001" "NM_020944.2" "" "NP_065995.1" "" "" "" "-524" "3087" "2784" "35749225" "35736863" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03634" "SPG46" "paraplegia, spastic, type 46, autosomal recessive (SPG-46)" "AR" "614409" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GBA2" "03634" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00054872" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat15" "00294856" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294857" "" "" "" "66" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299449" "" "" "" "2" "" "03653" "family, 2 affected" "HSP46" "F" "-" "Ethiopia" "" "0" "" "" "African" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00054872" "03634" "00294856" "00198" "00294857" "00198" "00299449" "03634" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03634 ## Count = 2 "{{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}}" "0000041536" "03634" "00054872" "01479" "Familial, autosomal recessive" "" "hereditary spastic paraplegia, ataxia, cataract, neuropathy, mild ID, thin corpus callosum, white matter changes" "03y" "" "" "" "" "" "" "" "SPG46" "hereditary spastic paraplegia" "" "0000226759" "03634" "00299449" "03653" "Familial, autosomal recessive" "" "Dementia\r\nAtaxia\r\nDystonia" "" "" "" "" "" "" "" "" "SPG-46" "Dementia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000054824" "00054872" "1" "01479" "01479" "2015-11-30 16:10:58" "" "" "SEQ-NG" "DNA" "" "" "0000296024" "00294856" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296025" "00294857" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300559" "00299449" "1" "03653" "03653" "2020-04-16 16:38:02" "" "" "SEQ-NG" "DNA" "blood" "HSP gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000054824" "GBA2" "0000300559" "GBA2" ## 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 = 46 "{{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}}" "0000084840" "0" "90" "9" "35738114" "35738114" "subst" "4.06177E-6" "01479" "GBA2_000001" "g.35738114G>A" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.35738117G>A" "" "pathogenic" "" "0000250503" "0" "70" "9" "35738871" "35738871" "subst" "0" "02329" "GBA2_000004" "g.35738871A>G" "" "" "" "GBA2(NM_020944.3):c.1825T>C (p.Y609H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35738874A>G" "" "likely pathogenic" "" "0000254640" "0" "30" "9" "35748379" "35748379" "subst" "0" "01943" "GBA2_000011" "g.35748379A>G" "" "" "" "GBA2(NM_020944.2):c.323T>C (p.L108P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35748382A>G" "" "likely benign" "" "0000255259" "0" "30" "9" "35739114" "35739114" "subst" "0.000826846" "01943" "GBA2_000006" "g.35739114A>G" "" "" "" "GBA2(NM_001330660.1):c.1688-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35739117A>G" "" "likely benign" "" "0000283357" "0" "70" "9" "35738861" "35738861" "subst" "8.1217E-6" "02329" "GBA2_000003" "g.35738861T>C" "" "" "" "GBA2(NM_020944.3):c.1835A>G (p.H612R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35738864T>C" "" "likely pathogenic" "" "0000288245" "0" "50" "9" "35740615" "35740615" "subst" "0.00126867" "01943" "GBA2_000009" "g.35740615G>A" "" "" "" "GBA2(NM_020944.2):c.1037C>T (p.T346M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35740618G>A" "" "VUS" "" "0000288246" "0" "30" "9" "35740293" "35740293" "subst" "0.00130462" "01943" "GBA2_000008" "g.35740293C>G" "" "" "" "GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35740296C>G" "" "likely benign" "" "0000288247" "0" "30" "9" "35739787" "35739787" "subst" "0.000475943" "01943" "GBA2_000007" "g.35739787C>T" "" "" "" "GBA2(NM_020944.2):c.1420G>A (p.A474T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35739790C>T" "" "likely benign" "" "0000288248" "0" "30" "9" "35739031" "35739031" "subst" "2.0347E-5" "01943" "GBA2_000005" "g.35739031C>T" "" "" "" "GBA2(NM_020944.2):c.1763G>A (p.R588K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35739034C>T" "" "likely benign" "" "0000288249" "0" "30" "9" "35748485" "35748485" "subst" "0.000101517" "01943" "GBA2_000012" "g.35748485C>T" "" "" "" "GBA2(NM_020944.2):c.217G>A (p.E73K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35748488C>T" "" "likely benign" "" "0000288250" "0" "30" "9" "35738146" "35738146" "subst" "0.000633508" "01943" "GBA2_000002" "g.35738146C>T" "" "" "" "GBA2(NM_001330660.1):c.2201G>A (p.R734H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35738149C>T" "" "likely benign" "" "0000288251" "0" "30" "9" "35744638" "35744638" "subst" "8.12156E-6" "01943" "GBA2_000010" "g.35744638T>C" "" "" "" "GBA2(NM_020944.2):c.425A>G (p.N142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35744641T>C" "" "likely benign" "" "0000332617" "0" "30" "9" "35736219" "35736219" "subst" "0.00415841" "01804" "CREB3_000001" "g.35736219T>C" "" "" "" "CREB3(NM_006368.4):c.697-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35736222T>C" "" "likely benign" "" "0000337850" "0" "10" "9" "35739115" "35739116" "ins" "0.674853" "02327" "GBA2_000014" "g.35739115_35739116insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35739118_35739119insC" "" "benign" "" "0000337851" "0" "10" "9" "35748806" "35748806" "subst" "0" "02327" "GBA2_000015" "g.35748806G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35748809G>T" "" "benign" "" "0000343449" "0" "50" "9" "35737315" "35737315" "subst" "2.03827E-5" "02327" "GBA2_000013" "g.35737315G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35737318G>A" "" "VUS" "" "0000344958" "0" "90" "9" "35738114" "35738114" "subst" "4.06177E-6" "02327" "GBA2_000001" "g.35738114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35738117G>A" "" "pathogenic" "" "0000538121" "0" "30" "9" "35735103" "35735103" "subst" "6.90793E-5" "01943" "CREB3_000003" "g.35735103C>A" "" "" "" "CREB3(NM_006368.4):c.436-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35735106C>A" "" "likely benign" "" "0000538122" "0" "50" "9" "35735109" "35735109" "subst" "0" "01943" "CREB3_000004" "g.35735109G>C" "" "" "" "CREB3(NM_006368.4):c.439G>C (p.E147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35735112G>C" "" "VUS" "" "0000538123" "0" "50" "9" "35735134" "35735134" "subst" "0.00104752" "01804" "CREB3_000005" "g.35735134G>A" "" "" "" "CREB3(NM_006368.4):c.464G>A (p.(Arg155Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35735137G>A" "" "VUS" "" "0000538124" "0" "30" "9" "35737772" "35737772" "subst" "5.27932E-5" "01943" "CREB3_000006" "g.35737772G>A" "" "" "" "GBA2(NM_001330660.1):c.2478C>T (p.Y826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35737775G>A" "" "likely benign" "" "0000538126" "0" "30" "9" "35739621" "35739621" "subst" "0" "01943" "CREB3_000008" "g.35739621G>A" "" "" "" "GBA2(NM_020944.2):c.1582+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35739624G>A" "" "likely benign" "" "0000538128" "0" "10" "9" "35740046" "35740046" "subst" "0.00206736" "01943" "CREB3_000010" "g.35740046G>T" "" "" "" "GBA2(NM_020944.2):c.1358C>A (p.A453E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35740049G>T" "" "benign" "" "0000538129" "0" "30" "9" "35740047" "35740047" "subst" "5.28052E-5" "01943" "CREB3_000011" "g.35740047C>T" "" "" "" "GBA2(NM_001330660.1):c.1357G>A (p.A453T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35740050C>T" "" "likely benign" "" "0000538130" "0" "30" "9" "35740293" "35740293" "subst" "0.00130462" "01804" "GBA2_000008" "g.35740293C>G" "" "" "" "GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35740296C>G" "" "likely benign" "" "0000538132" "0" "30" "9" "35740902" "35740902" "subst" "0.007681" "01804" "CREB3_000012" "g.35740902C>T" "" "" "" "GBA2(NM_020944.2):c.946G>A (p.(Gly316Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35740905C>T" "" "likely benign" "" "0000538133" "0" "30" "9" "35741033" "35741033" "subst" "0.00033336" "01804" "CREB3_000013" "g.35741033A>G" "" "" "" "GBA2(NM_020944.2):c.815T>C (p.(Val272Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35741036A>G" "" "likely benign" "" "0000538134" "0" "50" "9" "35744314" "35744314" "subst" "4.06372E-5" "02325" "CREB3_000014" "g.35744314G>A" "" "" "" "GBA2(NM_020944.3):c.547C>T (p.R183W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35744317G>A" "" "VUS" "" "0000612112" "0" "30" "9" "35738025" "35738027" "dup" "0" "02326" "CREB3_000017" "g.35738025_35738027dup" "" "" "" "GBA2(NM_001330660.2):c.2313+16_2313+18dupGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35738028_35738030dup" "" "likely benign" "" "0000612113" "0" "30" "9" "35740293" "35740293" "subst" "0.00130462" "02326" "GBA2_000008" "g.35740293C>G" "" "" "" "GBA2(NM_001330660.2):c.1196G>C (p.R399P), GBA2(NM_020944.2):c.1196G>C (p.R399P, p.(Arg399Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35740296C>G" "" "likely benign" "" "0000652713" "1" "50" "9" "35738127" "35738127" "subst" "0.000475154" "03575" "GBA2_000016" "g.35738127G>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs200894732}" "Germline" "" "rs200894732" "0" "" "" "g.35738130G>T" "" "VUS" "" "0000652714" "1" "10" "9" "35748669" "35748669" "subst" "0.0388422" "03575" "GBA2_000017" "g.35748669G>A" "66/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "66 heterozygous, no homozygous; {DB:CLININrs34312177}" "Germline" "" "rs34312177" "0" "" "" "g.35748672G>A" "" "benign" "" "0000663276" "21" "70" "9" "35744346" "35744346" "subst" "4.06144E-6" "03653" "GBA2_000019" "g.35744346C>T" "" "" "" "" "compound heterozygosity of this variant and another GBA2 variant in two patients segregates with the disease in the family" "Germline" "yes" "" "0" "" "" "g.35744349C>T" "" "VUS" "" "0000663277" "10" "90" "9" "35740550" "35740550" "subst" "0" "03653" "GBA2_000018" "g.35740550G>A" "" "" "" "" "compound heterozygosity for this variant and another GBA2 variant in two individuals which segregate with the disease (SPG-46)" "Germline" "yes" "" "0" "" "" "g.35740553G>A" "" "pathogenic (recessive)" "" "0000678671" "0" "30" "9" "35740081" "35740081" "subst" "0.000101557" "01943" "CREB3_000025" "g.35740081T>A" "" "" "" "GBA2(NM_020944.2):c.1323A>T (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678672" "0" "30" "9" "35744673" "35744673" "subst" "0" "01804" "CREB3_000026" "g.35744673A>C" "" "" "" "GBA2(NM_020944.2):c.390T>G (p.(His130Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804122" "0" "30" "9" "35748436" "35748436" "subst" "4.87274E-5" "01943" "CREB3_000040" "g.35748436C>G" "" "" "" "GBA2(NM_020944.2):c.266G>C (p.C89S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852276" "0" "50" "9" "35738127" "35738127" "subst" "0.000475154" "01943" "GBA2_000016" "g.35738127G>T" "" "" "" "GBA2(NM_001330660.1):c.2220C>A (p.S740R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861644" "0" "50" "9" "35739655" "35739655" "subst" "0.000382083" "01943" "CREB3_000051" "g.35739655G>A" "" "" "" "GBA2(NM_020944.2):c.1552C>T (p.R518W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861645" "0" "30" "9" "35748376" "35748376" "subst" "0.000479694" "01943" "CREB3_000052" "g.35748376C>T" "" "" "" "GBA2(NM_020944.2):c.326G>A (p.S109N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888836" "0" "50" "9" "35738088" "35738088" "subst" "0" "02329" "CREB3_000053" "g.35738088C>G" "" "" "" "GBA2(NM_001330660.2):c.2259G>C (p.Q753H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014542" "0" "50" "9" "35737387" "35737387" "subst" "2.85258E-5" "02325" "CREB3_000088" "g.35737387G>A" "" "" "" "GBA2(NM_020944.3):c.2563C>T (p.R855C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014543" "0" "30" "9" "35737883" "35737883" "subst" "0.000150691" "02326" "CREB3_000089" "g.35737883G>A" "" "" "" "GBA2(NM_020944.3):c.2367C>T (p.N789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037516" "0" "70" "9" "35737342" "35737342" "subst" "0" "01804" "CREB3_000093" "g.35737342G>A" "" "" "" "GBA2(NM_020944.3):c.2608C>T (p.(Arg870Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053248" "0" "50" "9" "35737226" "35737241" "dup" "0" "01804" "CREB3_000094" "g.35737226_35737241dup" "" "" "" "GBA2(NM_020944.3):c.2710_2725dup (p.(Leu909Glnfs*49))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053249" "0" "50" "9" "35740025" "35740025" "subst" "0" "01804" "CREB3_000095" "g.35740025G>T" "" "" "" "GBA2(NM_020944.3):c.1379C>A (p.(Ser460*))" "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 GBA2 ## Count = 46 "{{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}}" "0000084840" "00008381" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Gln745*)" "15" "0000250503" "00008381" "70" "1825" "0" "1825" "0" "c.1825T>C" "r.(?)" "p.(Tyr609His)" "" "0000254640" "00008381" "30" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "0000255259" "00008381" "30" "1688" "-8" "1688" "-8" "c.1688-8T>C" "r.(=)" "p.(=)" "" "0000283357" "00008381" "70" "1835" "0" "1835" "0" "c.1835A>G" "r.(?)" "p.(His612Arg)" "" "0000288245" "00008381" "50" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.(Thr346Met)" "" "0000288246" "00008381" "30" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Arg399Pro)" "" "0000288247" "00008381" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Ala474Thr)" "" "0000288248" "00008381" "30" "1763" "0" "1763" "0" "c.1763G>A" "r.(?)" "p.(Arg588Lys)" "" "0000288249" "00008381" "30" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0000288250" "00008381" "30" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Arg734His)" "" "0000288251" "00008381" "30" "425" "0" "425" "0" "c.425A>G" "r.(?)" "p.(Asn142Ser)" "" "0000332617" "00008381" "30" "3731" "0" "3731" "0" "c.*947A>G" "r.(=)" "p.(=)" "" "0000337850" "00008381" "10" "1688" "-10" "1688" "-9" "c.1688-10_1688-9insG" "r.(=)" "p.(=)" "" "0000337851" "00008381" "10" "-105" "0" "-105" "0" "c.-105C>A" "r.(?)" "p.(=)" "" "0000343449" "00008381" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879Trp)" "" "0000344958" "00008381" "90" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Gln745Ter)" "" "0000538121" "00008381" "30" "4847" "0" "4847" "0" "c.*2063G>T" "r.(=)" "p.(=)" "" "0000538122" "00008381" "50" "4841" "0" "4841" "0" "c.*2057C>G" "r.(=)" "p.(=)" "" "0000538123" "00008381" "50" "4816" "0" "4816" "0" "c.*2032C>T" "r.(=)" "p.(=)" "" "0000538124" "00008381" "30" "2478" "0" "2478" "0" "c.2478C>T" "r.(?)" "p.(Tyr826=)" "" "0000538126" "00008381" "30" "1582" "4" "1582" "4" "c.1582+4C>T" "r.spl?" "p.?" "" "0000538128" "00008381" "10" "1358" "0" "1358" "0" "c.1358C>A" "r.(?)" "p.(Ala453Glu)" "" "0000538129" "00008381" "30" "1357" "0" "1357" "0" "c.1357G>A" "r.(?)" "p.(Ala453Thr)" "" "0000538130" "00008381" "30" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Arg399Pro)" "" "0000538132" "00008381" "30" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Arg)" "" "0000538133" "00008381" "30" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Val272Ala)" "" "0000538134" "00008381" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Trp)" "" "0000612112" "00008381" "30" "2313" "16" "2313" "18" "c.2313+16_2313+18dup" "r.(=)" "p.(=)" "" "0000612113" "00008381" "30" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Arg399Pro)" "" "0000652713" "00008381" "50" "2220" "0" "2220" "0" "c.2220C>A" "r.(?)" "p.(Ser740Arg)" "" "0000652714" "00008381" "10" "33" "0" "33" "0" "c.33C>T" "r.(=)" "p.(=)" "" "0000663276" "00008381" "70" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172His)" "" "0000663277" "00008381" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "" "0000678671" "00008381" "30" "1323" "0" "1323" "0" "c.1323A>T" "r.(?)" "p.(Ala441=)" "" "0000678672" "00008381" "30" "390" "0" "390" "0" "c.390T>G" "r.(?)" "p.(His130Gln)" "" "0000804122" "00008381" "30" "266" "0" "266" "0" "c.266G>C" "r.(?)" "p.(Cys89Ser)" "" "0000852276" "00008381" "50" "2220" "0" "2220" "0" "c.2220C>A" "r.(?)" "p.(Ser740Arg)" "" "0000861644" "00008381" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Trp)" "" "0000861645" "00008381" "30" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Ser109Asn)" "" "0000888836" "00008381" "50" "2259" "0" "2259" "0" "c.2259G>C" "r.(?)" "p.(Gln753His)" "" "0001014542" "00008381" "50" "2563" "0" "2563" "0" "c.2563C>T" "r.(?)" "p.(Arg855Cys)" "" "0001014543" "00008381" "30" "2367" "0" "2367" "0" "c.2367C>T" "r.(?)" "p.(=)" "" "0001037516" "00008381" "70" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Arg870*)" "" "0001053248" "00008381" "50" "2710" "0" "2725" "0" "c.2710_2725dup" "r.(?)" "p.(Leu909Glnfs*49)" "" "0001053249" "00008381" "50" "1379" "0" "1379" "0" "c.1379C>A" "r.(?)" "p.(Ser460*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000054824" "0000084840" "0000296024" "0000652713" "0000296025" "0000652714" "0000300559" "0000663276" "0000300559" "0000663277"