### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDH13) # 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}}" "CDH13" "cadherin 13, H-cadherin (heart)" "16" "q23.3" "unknown" "NG_052819.1" "UD_136021938384" "" "https://www.LOVD.nl/CDH13" "" "1" "1753" "1012" "601364" "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/CDH13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-03-02 18:03:54" "00000" "2020-09-15 15:50:26" ## 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}}" "00004822" "CDH13" "transcript variant 1" "002" "NM_001257.4" "" "NP_001248.1" "" "" "" "-299" "3722" "2142" "82660399" "83830215" "" "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}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00104007" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-164A" "00104040" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-774A" "00183402" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "?" "" "" "0" "" "" "" "Patient XIV" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00104007" "03381" "00104040" "03381" "00183402" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 03381 ## Count = 3 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081941" "03381" "00104007" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000081974" "03381" "00104040" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000171332" "00244" "00183402" "00006" "Unknown" "" "onset juvenile, shoulder and pelvic girdle weakness, severe proximal muscle weakness, wheelchair bound, elevated CPK (3x), EMG myopathic, biopsy dystrophic features, mild respiratory\r\ninsufficiency" "" "" "shoulder and pelvic girdle weakness" "" "" "" "" "" "myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104478" "00104007" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104511" "00104040" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000184370" "00183402" "1" "02947" "02947" "2018-10-25 15:21:39" "" "" "arrayCGH" "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 = 10 "{{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}}" "0000169252" "0" "70" "16" "83636092" "83636092" "subst" "7.31131E-5" "00587" "CDH13_000001" "g.83636092G>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001257.4(CDH13):c.994G>C p.(Glu332Gln)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.83602487G>C" "" "likely pathogenic" "" "0000169318" "0" "70" "16" "83813594" "83813594" "subst" "0" "00587" "CDH13_000002" "g.83813594C>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001257.4(CDH13):c.1703C>G p.(Thr568Ser)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.83779989C>G" "" "likely pathogenic" "" "0000272907" "0" "30" "16" "83214529" "83214529" "subst" "0.000224091" "01943" "CDH13_000004" "g.83214529G>A" "" "" "" "CDH13(NM_001220491.1):c.538G>A (p.D180N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83180924G>A" "" "likely benign" "" "0000272908" "0" "50" "16" "82660738" "82660738" "subst" "5.63713E-5" "01943" "CDH13_000003" "g.82660738C>A" "" "" "" "CDH13(NM_001220488.1):c.76C>A (p.P26T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82627133C>A" "" "VUS" "" "0000349584" "0" "50" "16" "83813594" "83813594" "subst" "0" "02327" "CDH13_000002" "g.83813594C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83779989C>G" "" "VUS" "" "0000408415" "0" "70" "16" "83342046" "83949780" "del" "0" "02947" "CDH13_000005" "g.(83300000_83342046)_(83949780_84000000)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.83342046_83949780del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000559334" "0" "30" "16" "82673041" "82673041" "subst" "0.00106083" "01943" "CDH13_000006" "g.82673041C>T" "" "" "" "CDH13(NM_001220488.1):c.157C>T (p.R53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82639436C>T" "" "likely benign" "" "0000559336" "0" "30" "16" "83704553" "83704553" "subst" "0.000203742" "01943" "CDH13_000007" "g.83704553C>T" "" "" "" "CDH13(NM_001220488.1):c.1401C>T (p.N467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83670948C>T" "" "likely benign" "" "0000692159" "0" "50" "16" "82673027" "82673027" "del" "0" "01943" "CDH13_000008" "g.82673027del" "" "" "" "CDH13(NM_001220488.1):c.143delC (p.P48Hfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692160" "0" "30" "16" "83520167" "83520167" "subst" "0" "01943" "CDH13_000009" "g.83520167G>A" "" "" "" "CDH13(NM_001257.5):c.867G>A (p.Q289=)" "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 CDH13 ## 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}}" "0000169252" "00004822" "00" "994" "0" "994" "0" "c.994G>C" "r.(?)" "p.(Glu332Gln)" "" "0000169318" "00004822" "00" "1703" "0" "1703" "0" "c.1703C>G" "r.(?)" "p.(Thr568Ser)" "" "0000272907" "00004822" "30" "484" "-36421" "484" "-36421" "c.484-36421G>A" "r.(=)" "p.(=)" "" "0000272908" "00004822" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Ser14Tyr)" "" "0000349584" "00004822" "50" "1703" "0" "1703" "0" "c.1703C>G" "r.(?)" "p.(Thr568Ser)" "" "0000408415" "00004822" "90" "637" "-36421" "3722" "0" "c.(636+1_637-36421)_(*1580_?)del" "r.?" "p.?" "5i_14_" "0000559334" "00004822" "30" "45" "12299" "45" "12299" "c.45+12299C>T" "r.(=)" "p.(=)" "" "0000559336" "00004822" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(Asn420=)" "" "0000692159" "00004822" "50" "45" "12285" "45" "12285" "c.45+12285del" "r.(=)" "p.(=)" "" "0000692160" "00004822" "30" "867" "0" "867" "0" "c.867G>A" "r.(?)" "p.(Gln289=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000104478" "0000169318" "0000104511" "0000169252" "0000184370" "0000408415"