### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAX5) # 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}}" "PAX5" "paired box 5" "9" "p13.2" "unknown" "NC_000009.11" "NC_000009.11" "" "https://www.LOVD.nl/}PAX5" "" "1" "8619" "5079" "167414" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-28 13:48:53" "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}}" "00025442" "PAX5" "transcript variant 1" "003" "NM_016734.2" "" "NP_057953.1" "" "" "" "-448" "8461" "1176" "37034476" "36833272" "00001" "2019-07-18 10:37:48" "" "" ## 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}}" "03997" "ALL3" "Leukemia, acute lymphoblastic, susceptibility to, 3" "" "615545" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PAX5" "03997" ## 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}}" "00404312" "" "" "" "3" "" "00006" "{PMID:Gofin 2022:35094443}" "2-generation family, 3 affected sibs" "M" "" "" "" "0" "" "" "" "Pat1" "00404313" "" "" "00404312" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "fraternal twin Pat3" "M" "" "" "" "0" "" "" "" "Pat2" "00404314" "" "" "00404312" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "fraternal twin Pat2" "M" "" "" "" "0" "" "" "" "Pat3" "00404315" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "" "M" "" "" "" "0" "" "" "Hispanic" "Pat4" "00404316" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "" "M" "" "" "" "0" "" "" "" "Pat5(DECIPHER-323105)" "00404317" "" "" "" "1" "" "00006" "{PMID:Yuen 2017:}, {PMID:Gofin 2022:35094443}" "" "M" "" "" "" "0" "" "" "Asia-E" "1-0255-003;Pat6" "00404318" "" "" "" "1" "" "00006" "{O\'Roak 2014:}, {PMID:Gofin 2022:35094443}" "" "F" "" "" "" "0" "" "" "Asia" "12858.p1;Pat7" "00404319" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00404320" "" "" "" "1" "" "00006" "{O\'Roak 2014:}, {PMID:Gofin 2022:35094443}" "" "F" "" "" "" "0" "" "" "" "220-9860-201;Pat9" "00404321" "" "" "" "2" "" "00006" "{PMID:Gofin 2022:35094443}" "2-generation family, 2 affeected" "M" "" "" "" "0" "" "" "white;Hispanic" "Pat10" "00404322" "" "" "00404321" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "brother" "M" "" "" "" "0" "" "" "white;Hispanic" "Pat11" "00404323" "" "" "" "1" "" "00006" "{PMID:Feliciano 2019:}, {PMID:Gofin 2022:35094443}" "" "M" "" "" "" "0" "" "" "white" "SP0016232;Pat12" "00404324" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "" "M" "" "" "" "0" "" "" "Europe" "Pat13" "00404325" "" "" "" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "" "F" "" "" "" "0" "" "" "Italy;Germany;Ireland;England" "Pat14" "00404326" "" "" "" "2" "" "00006" "{PMID:Gofin 2022:35094443}" "2-generation family, 2 affeected" "M" "" "" "" "0" "" "" "" "Pat15" "00404327" "" "" "00404326" "1" "" "00006" "{PMID:Gofin 2022:35094443}" "sister" "F" "" "" "" "0" "" "" "" "Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00404312" "05611" "00404313" "05611" "00404314" "05611" "00404315" "05611" "00404316" "05611" "00404317" "05611" "00404318" "05611" "00404319" "05611" "00404320" "05611" "00404321" "05611" "00404322" "05611" "00404323" "05611" "00404324" "05611" "00404325" "05611" "00404326" "05611" "00404327" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03997, 05611 ## Count = 16 "{{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}}" "0000296900" "05611" "00404312" "00006" "Familial" "14y" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296901" "05611" "00404313" "00006" "Familial" "20y" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296902" "05611" "00404314" "00006" "Familial" "20y" "see paper; ..., autism spectrum disorder" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296903" "05611" "00404315" "00006" "Unknown" "17y" "see paper; ..., autism spectrum disorder, delayed developmental milestones, intellectual disability, seizures" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296904" "05611" "00404316" "00006" "Unknown" "8y" "see paper; ..., delayed developmental milestones, intellectual disability, MRI-brain normal" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296905" "05611" "00404317" "00006" "Unknown" "12y" "see paper; ..., developmental delay, no intellectual disability, autism spectrum disorder, no seizures, attention deficit hyperactivity disorder, aggression" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296906" "05611" "00404318" "00006" "Unknown" "4y" "see paper; ..., developmental delay, no intellectual disability, autism spectrum disorder, no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296907" "05611" "00404319" "00006" "Unknown" "5y" "see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296908" "05611" "00404320" "00006" "Unknown" "5y" "see paper; ..., no developmental delay, no intellectual disability, autism spectrum disorder, no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296909" "05611" "00404321" "00006" "Familial, autosomal dominant" "9y" "see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, no seizures; MRI brain pituitary cyst, arachnoid cyst, mild bilateral under opercularization, T2 hyperintensity posterior centrum semi-ovale; hypotonia, mild scoliosis" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296910" "05611" "00404322" "00006" "Familial, autosomal dominant" "13y" "see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures; profound left-sided sensorineural hearing loss" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296911" "05611" "00404323" "00006" "Unknown" "13y" "see paper; ..., developmental delay, intellectual disability, autism spectrum disorder, no seizures" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296912" "05611" "00404324" "00006" "Unknown" "24y" "see paper; ...,no developmental delay, intellectual disability, autism spectrum disorder, seizures; MRI brain normal; hypotonia, anxiety, obsessive behavior, sensorineural hearing loss" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296913" "05611" "00404325" "00006" "Unknown" "20m" "see paper; ..., developmental delay, seizures; MRI brain normal" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296914" "05611" "00404326" "00006" "Unknown" "9y" "see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, seizures; MRI brain thin corpus callosum, paucity of periventricular white matter; attention deficit hyperactivity disorder, distal muscle atrophy in upper and lower extremities, hammertoes and high arches, EMG chronic motor-sensory polyneuropathy" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000296915" "05611" "00404327" "00006" "Unknown" "7y" "see paper; ..., developmental delay, intellectual disability, no autism spectrum disorder, no seizures; MRI brain thin corpus callosum; mild distal muscle atrophy, pes cavus" "" "" "" "" "" "" "" "" "neurodevelopmental syndrome" ## 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}}" "0000405551" "00404312" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "arraySNP" "DNA" "" "" "0000405552" "00404313" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "arraySNP" "DNA" "" "" "0000405553" "00404314" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "arraySNP" "DNA" "" "" "0000405554" "00404315" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "arraySNP" "DNA" "" "" "0000405555" "00404316" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "arraySNP" "DNA" "" "" "0000405556" "00404317" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405557" "00404318" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405558" "00404319" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405559" "00404320" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405560" "00404321" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405561" "00404322" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405562" "00404323" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405563" "00404324" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405564" "00404325" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405565" "00404326" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405566" "00404327" "1" "00006" "00006" "2022-02-28 18:07:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 48 "{{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}}" "0000305049" "0" "30" "9" "37002776" "37002776" "subst" "0" "01943" "PAX5_000002" "g.37002776G>A" "" "" "" "PAX5(NM_016734.2):c.476-3C>T, PAX5(NM_016734.3):c.476-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37002779G>A" "" "likely benign" "" "0000538179" "0" "50" "9" "36840607" "36840607" "subst" "8.312E-5" "01943" "PAX5_000003" "g.36840607C>T" "" "" "" "PAX5(NM_016734.2):c.1126G>A (p.A376T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36840610C>T" "" "VUS" "" "0000538180" "0" "30" "9" "36882049" "36882049" "subst" "0.00959457" "01804" "PAX5_000004" "g.36882049C>T" "" "" "" "PAX5(NM_001280548.1):c.964G>A (p.(Ala322Thr)), PAX5(NM_016734.3):c.964G>A (p.A322T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36882052C>T" "" "likely benign" "" "0000538181" "0" "50" "9" "36966658" "36966658" "subst" "0" "01943" "PAX5_000005" "g.36966658T>G" "" "" "" "PAX5(NM_016734.2):c.668A>C (p.Q223P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36966661T>G" "" "VUS" "" "0000538182" "0" "30" "9" "36966669" "36966669" "subst" "0" "01943" "PAX5_000006" "g.36966669G>A" "" "" "" "PAX5(NM_016734.2):c.657C>T (p.F219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36966672G>A" "" "likely benign" "" "0000538183" "0" "50" "9" "37020753" "37020753" "subst" "0" "01943" "PAX5_000007" "g.37020753C>T" "" "" "" "PAX5(NM_016734.2):c.92G>A (p.R31Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37020756C>T" "" "VUS" "" "0000612123" "0" "50" "9" "36882073" "36882073" "dup" "0" "01943" "PAX5_000008" "g.36882073dup" "" "" "" "PAX5(NM_016734.2):c.942dupG (p.Y315Vfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36882076dup" "" "VUS" "" "0000612124" "0" "50" "9" "36923394" "36923394" "subst" "0" "01943" "PAX5_000010" "g.36923394C>T" "" "" "" "PAX5(NM_016734.2):c.868G>A (p.G290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36923397C>T" "" "VUS" "" "0000622265" "0" "50" "9" "36882099" "36882099" "subst" "0.000123987" "01943" "PAX5_000009" "g.36882099C>T" "" "" "" "PAX5(NM_016734.2):c.914G>A (p.R305H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36882102C>T" "" "VUS" "" "0000622266" "0" "30" "9" "36966681" "36966681" "subst" "4.87523E-5" "02326" "PAX5_000011" "g.36966681C>T" "" "" "" "PAX5(NM_016734.3):c.645G>A (p.P215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36966684C>T" "" "likely benign" "" "0000622267" "0" "30" "9" "37002776" "37002776" "subst" "0" "02326" "PAX5_000002" "g.37002776G>A" "" "" "" "PAX5(NM_016734.2):c.476-3C>T, PAX5(NM_016734.3):c.476-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37002779G>A" "" "likely benign" "" "0000678679" "0" "30" "9" "36840544" "36840544" "subst" "0" "01943" "PAX5_000012" "g.36840544C>T" "" "" "" "PAX5(NM_001280549.1):c.957G>A (p.Q319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678680" "0" "30" "9" "36966701" "36966701" "subst" "4.06306E-6" "01804" "PAX5_000013" "g.36966701G>C" "" "" "" "PAX5(NM_001280547.1):c.625C>G (p.(Pro209Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722532" "0" "10" "9" "37034023" "37034023" "subst" "0.00332803" "02326" "PAX5_000014" "g.37034023A>T" "" "" "" "PAX5(NM_016734.3):c.6T>A (p.D2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804132" "0" "50" "9" "36840613" "36840613" "subst" "0" "01943" "PAX5_000015" "g.36840613C>T" "" "" "" "PAX5(NM_016734.2):c.1120G>A (p.A374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804133" "0" "50" "9" "36966688" "36966688" "subst" "0.000613377" "01943" "PAX5_000016" "g.36966688G>A" "" "" "" "PAX5(NM_016734.2):c.638C>T (p.S213L), PAX5(NM_016734.3):c.638C>T (p.S213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804134" "0" "50" "9" "36966688" "36966688" "subst" "0.000613377" "02325" "PAX5_000016" "g.36966688G>A" "" "" "" "PAX5(NM_016734.2):c.638C>T (p.S213L), PAX5(NM_016734.3):c.638C>T (p.S213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804135" "0" "30" "9" "37015160" "37015160" "subst" "0.000913639" "02326" "PAX5_000017" "g.37015160C>T" "" "" "" "PAX5(NM_016734.3):c.244G>A (p.V82I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841648" "0" "70" "9" "36426622" "38787479" "del" "0" "00006" "PAX5_000018" "g.(?_36426622)_(38787479_?)del" "" "{PMID:Gofin 2022:35094443}" "" "hg19 del chr9:36,426,622-38,787,479" "2.4 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841649" "0" "70" "9" "36426622" "38787479" "del" "0" "00006" "PAX5_000018" "g.(?_36426622)_(38787479_?)del" "" "{PMID:Gofin 2022:35094443}" "" "hg19 del chr9:36,426,622-38,787,479" "2.4 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841650" "0" "70" "9" "36442195" "39156958" "del" "0" "00006" "PAX5_000018" "g.(36419493_36442195)_(39156958_40774118)del" "" "{PMID:Gofin 2022:35094443}" "" "" "2.7-4.4Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841651" "0" "70" "9" "36088563" "39092820" "del" "0" "00006" "PAX5_000018" "g.(?_36088563)_(39092820_?)del" "" "{PMID:Gofin 2022:35094443}" "" "hg19 del chr9:36,088,563-39,092,820" "3.0 Mb deletion" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841652" "0" "70" "9" "35059633" "37660586" "del" "0" "00006" "PAX5_000018" "g.(?_35059633)_(37660586_?)del" "" "{PMID:Gofin 2022:35094443}" "" "hg19 del chr9:35,059,633-37,660,586" "2.6 Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000841653" "0" "70" "9" "37020775" "37020775" "dup" "0" "00006" "PAX5_000026" "g.37020775dup" "" "{PMID:Yuen 2017:}, {PMID:Gofin 2022:35094443}" "" "c.76dupG" "" "De novo" "" "" "0" "" "" "g.37020778dup" "" "likely pathogenic (dominant)" "" "0000841654" "0" "70" "9" "37015072" "37015072" "del" "0" "00006" "PAX5_000024" "g.37015072del" "" "{O\'Roak 2014:}, {PMID:Gofin 2022:35094443}" "" "c.333delC" "" "De novo" "" "" "0" "" "" "g.37015075del" "" "likely pathogenic (dominant)" "" "0000841655" "0" "70" "9" "36840604" "36840604" "subst" "0" "00006" "PAX5_000019" "g.36840604G>A" "" "{PMID:Gofin 2022:35094443}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36840607G>A" "" "likely pathogenic (dominant)" "" "0000841656" "0" "70" "9" "37033983" "37033983" "subst" "0" "00006" "PAX5_000027" "g.37033983C>G" "" "{O\'Roak 2014:}, {PMID:Gofin 2022:35094443}" "" "" "" "De novo" "" "" "0" "" "" "g.37033986C>G" "" "likely pathogenic (dominant)" "" "0000841657" "21" "70" "9" "37020688" "37020688" "subst" "4.06072E-6" "00006" "PAX5_000025" "g.37020688C>G" "" "{PMID:Gofin 2022:35094443}" "" "" "" "Germline" "" "" "0" "" "" "g.37020691C>G" "" "likely pathogenic (dominant)" "" "0000841658" "21" "70" "9" "37020688" "37020688" "subst" "4.06072E-6" "00006" "PAX5_000025" "g.37020688C>G" "" "{PMID:Gofin 2022:35094443}" "" "" "" "Germline" "" "" "0" "" "" "g.37020691C>G" "" "likely pathogenic (dominant)" "" "0000841659" "0" "70" "9" "37015066" "37015066" "subst" "0" "00006" "PAX5_000023" "g.37015066T>A" "" "{PMID:Feliciano 2019:}, {PMID:Gofin 2022:35094443}" "" "" "" "De novo" "" "" "0" "" "" "g.37015069T>A" "" "likely pathogenic (dominant)" "" "0000841660" "0" "70" "9" "37006526" "37006526" "subst" "0" "00006" "PAX5_000022" "g.37006526C>T" "" "{PMID:Gofin 2022:35094443}" "" "" "" "De novo" "" "" "0" "" "" "g.37006529C>T" "" "likely pathogenic (dominant)" "" "0000841661" "0" "70" "9" "36966665" "36966665" "subst" "0" "00006" "PAX5_000021" "g.36966665G>A" "" "{PMID:Gofin 2022:35094443}" "" "" "" "De novo" "" "" "0" "" "" "g.36966668G>A" "" "likely pathogenic (dominant)" "" "0000841662" "0" "70" "9" "36882051" "36882051" "subst" "1.25057E-5" "00006" "PAX5_000020" "g.36882051G>T" "" "{PMID:Gofin 2022:35094443}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36882054G>T" "" "likely pathogenic (dominant)" "" "0000841663" "0" "70" "9" "36882051" "36882051" "subst" "1.25057E-5" "00006" "PAX5_000020" "g.36882051G>T" "" "{PMID:Gofin 2022:35094443}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36882054G>T" "" "likely pathogenic (dominant)" "" "0000852282" "0" "30" "9" "36840644" "36840644" "subst" "0.00205987" "02326" "PAX5_000028" "g.36840644C>T" "" "" "" "PAX5(NM_016734.3):c.1100-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861696" "0" "10" "9" "36846910" "36846910" "subst" "0.0242161" "01804" "PAX5_000029" "g.36846910C>T" "" "" "" "PAX5(NM_001280547.1):c.927G>A (p.(Gly309=)), PAX5(NM_016734.3):c.1029G>A (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861697" "0" "10" "9" "36882049" "36882049" "subst" "0.00959457" "02329" "PAX5_000004" "g.36882049C>T" "" "" "" "PAX5(NM_001280548.1):c.964G>A (p.(Ala322Thr)), PAX5(NM_016734.3):c.964G>A (p.A322T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888858" "0" "10" "9" "36846910" "36846910" "subst" "0.0242161" "02329" "PAX5_000029" "g.36846910C>T" "" "" "" "PAX5(NM_001280547.1):c.927G>A (p.(Gly309=)), PAX5(NM_016734.3):c.1029G>A (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925052" "0" "30" "9" "36846827" "36846827" "subst" "0.000590819" "02326" "PAX5_000030" "g.36846827C>T" "" "" "" "PAX5(NM_016734.3):c.1099+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925053" "0" "30" "9" "36846828" "36846828" "subst" "0.000195472" "02326" "PAX5_000031" "g.36846828G>A" "" "" "" "PAX5(NM_016734.3):c.1099+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925054" "0" "10" "9" "37006455" "37006455" "subst" "0.0195168" "02329" "PAX5_000032" "g.37006455A>T" "" "" "" "PAX5(NM_016734.3):c.475+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949300" "0" "30" "9" "36923343" "36923343" "subst" "0.00015273" "02326" "PAX5_000033" "g.36923343T>C" "" "" "" "PAX5(NM_016734.3):c.910+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997893" "0" "50" "9" "37015028" "37015028" "subst" "0" "01804" "PAX5_000034" "g.37015028T>C" "" "" "" "PAX5(NM_016734.2):c.376A>G (p.(Asn126Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014556" "0" "30" "9" "36846817" "36846817" "subst" "2.45624E-5" "02329" "PAX5_000035" "g.36846817G>T" "" "" "" "PAX5(NM_016734.3):c.1099+23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025680" "0" "30" "9" "36923502" "36923502" "subst" "0.00164319" "02329" "PAX5_000036" "g.36923502G>A" "" "" "" "PAX5(NM_016734.3):c.781-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025681" "0" "70" "9" "36966602" "36966602" "subst" "0" "01943" "PAX5_000037" "g.36966602C>A" "" "" "" "PAX5(NM_016734.2):c.724G>T (p.E242*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037535" "0" "70" "9" "36882051" "36882051" "subst" "1.25057E-5" "02327" "PAX5_000020" "g.36882051G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037536" "0" "50" "9" "37015027" "37015027" "subst" "0" "02325" "PAX5_000038" "g.37015027T>G" "" "" "" "PAX5(NM_016734.3):c.377A>C (p.N126T)" "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 PAX5 ## Count = 48 "{{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}}" "0000305049" "00025442" "30" "476" "-3" "476" "-3" "c.476-3C>T" "r.spl?" "p.?" "" "0000538179" "00025442" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Ala376Thr)" "" "0000538180" "00025442" "30" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Ala322Thr)" "" "0000538181" "00025442" "50" "668" "0" "668" "0" "c.668A>C" "r.(?)" "p.(Gln223Pro)" "" "0000538182" "00025442" "30" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Phe219=)" "" "0000538183" "00025442" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31Gln)" "" "0000612123" "00025442" "50" "942" "0" "942" "0" "c.942dup" "r.(?)" "p.(Tyr315ValfsTer26)" "" "0000612124" "00025442" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Gly290Arg)" "" "0000622265" "00025442" "50" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Arg305His)" "" "0000622266" "00025442" "30" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(Pro215=)" "" "0000622267" "00025442" "30" "476" "-3" "476" "-3" "c.476-3C>T" "r.spl?" "p.?" "" "0000678679" "00025442" "30" "1189" "0" "1189" "0" "c.*13G>A" "r.(=)" "p.(=)" "" "0000678680" "00025442" "30" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Pro209Ala)" "" "0000722532" "00025442" "10" "6" "0" "6" "0" "c.6T>A" "r.(?)" "p.(Asp2Glu)" "" "0000804132" "00025442" "50" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Ala374Thr)" "" "0000804133" "00025442" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ser213Leu)" "" "0000804134" "00025442" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ser213Leu)" "" "0000804135" "00025442" "30" "244" "0" "244" "0" "c.244G>A" "r.(?)" "p.(Val82Ile)" "" "0000841648" "00025442" "70" "" "0" "" "0" "c.-237_*7291{0}" "r.0" "p.0" "_1_10_" "0000841649" "00025442" "70" "" "0" "" "0" "c.-237_*7291{0}" "r.0" "p.0" "_1_10_" "0000841650" "00025442" "70" "" "0" "" "0" "c.-237_*7291{0}" "r.0" "p.0" "_1_10_" "0000841651" "00025442" "70" "" "0" "" "0" "c.-237_*7291{0}" "r.0" "p.0" "_1_10_" "0000841652" "00025442" "70" "" "0" "" "0" "c.-237_*7291{0}" "r.0" "p.0" "_1_10_" "0000841653" "00025442" "70" "76" "0" "76" "0" "c.76dup" "r.(?)" "p.(Val26GlyfsTer49)" "" "0000841654" "00025442" "70" "333" "0" "333" "0" "c.333del" "r.(?)" "p.(Trp112GlyfsTer47)" "" "0000841655" "00025442" "70" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Arg377Ter)" "" "0000841656" "00025442" "70" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Gly16Arg)" "" "0000841657" "00025442" "70" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Asp53His)" "" "0000841658" "00025442" "70" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Asp53His)" "" "0000841659" "00025442" "70" "338" "0" "338" "0" "c.338A>T" "r.(?)" "p.(Glu113Val)" "" "0000841660" "00025442" "70" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140Gln)" "" "0000841661" "00025442" "70" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" "" "0000841662" "00025442" "70" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Pro321His)" "" "0000841663" "00025442" "70" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Pro321His)" "" "0000852282" "00025442" "30" "1100" "-11" "1100" "-11" "c.1100-11G>A" "r.(=)" "p.(=)" "" "0000861696" "00025442" "10" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Gly343=)" "" "0000861697" "00025442" "10" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Ala322Thr)" "" "0000888858" "00025442" "10" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Gly343=)" "" "0000925052" "00025442" "30" "1099" "13" "1099" "13" "c.1099+13G>A" "r.(=)" "p.(=)" "" "0000925053" "00025442" "30" "1099" "12" "1099" "12" "c.1099+12C>T" "r.(=)" "p.(=)" "" "0000925054" "00025442" "10" "475" "15" "475" "15" "c.475+15T>A" "r.(=)" "p.(=)" "" "0000949300" "00025442" "30" "910" "9" "910" "9" "c.910+9A>G" "r.(=)" "p.(=)" "" "0000997893" "00025442" "50" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Asn126Asp)" "" "0001014556" "00025442" "30" "1099" "23" "1099" "23" "c.1099+23C>A" "r.(=)" "p.(=)" "" "0001025680" "00025442" "30" "781" "-21" "781" "-21" "c.781-21C>T" "r.(=)" "p.(=)" "" "0001025681" "00025442" "70" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "" "0001037535" "00025442" "70" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Pro321His)" "" "0001037536" "00025442" "50" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Asn126Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000405551" "0000841648" "0000405552" "0000841649" "0000405553" "0000841650" "0000405554" "0000841651" "0000405555" "0000841652" "0000405556" "0000841653" "0000405557" "0000841654" "0000405558" "0000841655" "0000405559" "0000841656" "0000405560" "0000841657" "0000405561" "0000841658" "0000405562" "0000841659" "0000405563" "0000841660" "0000405564" "0000841661" "0000405565" "0000841662" "0000405566" "0000841663"