### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WNT2B) # 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}}" "WNT2B" "wingless-type MMTV integration site family, member 2B" "1" "p13" "unknown" "NG_052953.1" "UD_132319143349" "" "https://www.LOVD.nl/WNT2B" "" "1" "12781" "7482" "601968" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/WNT2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-21 10:34:01" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00022853" "WNT2B" "transcript variant WNT-2B1" "001" "NM_004185.3" "" "NP_004176.2" "" "" "" "-120" "1898" "1119" "113010040" "113063910" "" "0000-00-00 00:00:00" "" "" "00025565" "WNT2B" "transcript variant WNT-2B2" "002" "NM_024494.2" "" "NP_078613.1" "" "" "" "-515" "1955" "1176" "113051370" "113063910" "00006" "2020-10-21 09:53:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05288" "DIAR" "diarrhea (DIAR)" "" "" "" "" "" "00006" "2017-06-23 13:12:10" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05858" "DIAR9" "diarrhea, type 9 (DIAR9)" "AR" "618168" "" "" "" "00006" "2020-10-21 10:33:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WNT2B" "05288" "WNT2B" "05858" ## 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}}" "00314932" "" "" "" "2" "" "00006" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "" "Kuwait" "" "0" "" "" "" "FamPat1" "00314933" "" "" "00314932" "1" "" "00006" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "sister" "F" "" "Kuwait" "" "0" "" "" "" "FamPat2" "00314934" "" "" "" "1" "" "00006" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "" "M" "" "Viet Nam" "" "0" "" "" "" "Pat3" "00316163" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected patient and 1st degree relative" "" "" "France" "" "0" "" "" "" "K55" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00314932" "05288" "00314933" "05288" "00314934" "05288" "00316163" "05342" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05288, 05342, 05858 ## Count = 4 "{{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}}" "0000238689" "05288" "00314932" "00006" "Familial, autosomal recessive" "" "see paper; severe neonatal-onset osmotic diarrhea, ..." "" "" "" "" "" "" "" "DIAR9" "severe neonatal-onset osmotic diarrhea" "0000238690" "05288" "00314933" "00006" "Familial, autosomal recessive" "" "see paper; severe neonatal-onset osmotic diarrhea, ..." "" "" "" "" "" "" "" "DIAR9" "severe neonatal-onset osmotic diarrhea" "0000238691" "05288" "00314934" "00006" "Familial, autosomal recessive" "" "see paper; severe neonatal-onset osmotic diarrhea, ..." "" "" "" "" "" "" "" "DIAR9" "severe neonatal-onset osmotic diarrhea" "0000239910" "05342" "00316163" "00006" "Unknown" "" "unilateral kidney agenesis" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" ## 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}}" "0000316106" "00314932" "1" "00006" "00006" "2020-10-21 11:24:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316107" "00314933" "1" "00006" "00006" "2020-10-21 11:24:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316108" "00314934" "1" "00006" "00006" "2020-10-21 11:24:23" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000317345" "00316163" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000316106" "WNT2B" "0000316107" "WNT2B" "0000316108" "WNT2B" "0000317345" "SOX4" "0000317345" "WNT2B" ## 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 = 7 "{{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}}" "0000687813" "0" "30" "1" "113051919" "113051919" "subst" "1.32556E-5" "01943" "WNT2B_000001" "g.113051919A>G" "" "" "" "WNT2B(NM_024494.3):c.35A>G (p.Q12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000687814" "0" "30" "1" "113051966" "113051966" "subst" "0.00114325" "01943" "WNT2B_000002" "g.113051966G>A" "" "" "" "WNT2B(NM_024494.3):c.82G>A (p.A28T, p.(Ala28Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000698246" "3" "90" "1" "113057518" "113057518" "subst" "1.21826E-5" "00006" "WNT2B_000003" "g.113057518C>T" "" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.112514896C>T" "" "pathogenic (recessive)" "" "0000698247" "3" "90" "1" "113057518" "113057518" "subst" "1.21826E-5" "00006" "WNT2B_000003" "g.113057518C>T" "" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.112514896C>T" "" "pathogenic (recessive)" "" "0000698248" "3" "90" "1" "113057626" "113057626" "subst" "0" "00006" "WNT2B_000004" "g.113057626C>T" "" "{PMID:O\'Connell 2018:29909964}, {DOI:O\'Connell 2018:10.1016/j.ajhg.2018.05.007}" "" "" "no NMD detected" "Germline" "" "" "0" "" "" "g.112515004C>T" "" "pathogenic (recessive)" "" "0000699941" "0" "50" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0001031066" "0" "30" "1" "113051966" "113051966" "subst" "0.00114325" "01804" "WNT2B_000002" "g.113051966G>A" "" "" "" "WNT2B(NM_024494.3):c.82G>A (p.A28T, p.(Ala28Thr))" "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 WNT2B ## Count = 10 "{{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}}" "0000687813" "00022853" "30" "126" "-5577" "126" "-5577" "c.126-5577A>G" "r.(=)" "p.(=)" "" "0000687813" "00025565" "30" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Gln12Arg)" "" "0000687814" "00022853" "30" "126" "-5530" "126" "-5530" "c.126-5530G>A" "r.(=)" "p.(=)" "" "0000687814" "00025565" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000698246" "00025565" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69*)" "" "0000698247" "00025565" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Arg69*)" "" "0000698248" "00025565" "90" "313" "0" "313" "0" "c.313C>T" "r.313c>u" "p.Arg105*" "" "0000699941" "00025565" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Ser136Ile)" "" "0001031066" "00022853" "30" "126" "-5530" "126" "-5530" "c.126-5530G>A" "r.(=)" "p.(=)" "" "0001031066" "00025565" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000316106" "0000698246" "0000316107" "0000698247" "0000316108" "0000698248" "0000317345" "0000699941"