### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERBB4) # 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}}" "ERBB4" "v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)" "2" "q33.3-q34" "unknown" "NG_011805.1" "UD_132118939210" "" "https://www.LOVD.nl/ERBB4" "" "1" "3432" "2066" "600543" "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/ERBB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-11-24 11:45:31" "00000" "2025-07-08 13:22:38" ## 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}}" "00025247" "ERBB4" "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4, transcript variant JM-a/CVT-1" "005" "NM_005235.2" "" "NP_005226.1" "" "" "" "-98" "11825" "3927" "213403352" "212240442" "00006" "2017-11-24 11:47:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "03475" "HCAD" "Hirschsprung disease, cardiac defects, autonomic dysfunction (HCAD)" "AD" "613870" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03981" "ALS19" "sclerosis, lateral, amyotrophic, type 19 (ALS19)" "AD" "615515" "" "" "" "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}}" "ERBB4" "03981" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00074661" "" "" "" "4" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "3-generation family, 4 affecteds (F, 3M)" "M" "no" "Japan" "74y" "0" "" "" "Japanese" "24119685-Ped3166PatI1" "00074662" "" "" "00074661" "1" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "F" "no" "Japan" "69y" "0" "" "" "Japanese" "24119685-Ped3166PatII3" "00074663" "" "" "00074661" "1" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "M" "no" "Japan" "70y" "0" "" "" "Japanese" "24119685-Ped3166PatII4" "00074664" "" "" "00074661" "1" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "M" "no" "Japan" "66y" "0" "" "" "Japanese" "24119685-Ped3166PatII6" "00074665" "" "" "" "1" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "3-generation family, 4 affecteds (2F, 2M)" "M" "" "Canada" ">67y" "0" "" "" "" "24119685-Ped2555PatIII1" "00074666" "" "" "" "1" "" "01604" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "2-generation family, isolated case" "F" "no" "Japan" ">45y" "0" "" "" "Japanese" "24119685-Ped5175PatII1" "00104025" "" "" "" "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-716A" "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" "00133266" "" "" "" "1" "" "02312" "" "" "M" "" "Viet Nam" "" "0" "" "" "" "VH106C" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307255" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "F" "" "Brazil" "" "" "" "" "" "Patient 58" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00074661" "03981" "00074662" "03981" "00074663" "03981" "00074664" "03981" "00074665" "03981" "00074666" "03981" "00104025" "03381" "00104040" "03381" "00133266" "03475" "00307145" "01544" "00307255" "01544" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 01544, 03381, 03475, 03981 ## Count = 11 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "0000054412" "03981" "00074661" "01604" "Familial, autosomal dominant" "" "inability to walk (HP:0002540), bulbar (HP:0002483)" "70y" "" "" "" "" "" "" "" "" "" "0000054413" "03981" "00074662" "01604" "Familial, autosomal dominant" "" "" "63y" "" "" "" "" "" "" "" "" "" "0000054414" "03981" "00074663" "01604" "Familial, autosomal dominant" "" "upper limb muscle weakness (HP:0003484), no cognitive impairment (-HP:0100543)" "63y" "" "" "" "" "" "" "" "" "" "0000054415" "03981" "00074664" "01604" "Familial, autosomal dominant" "" "respiration (HP:0004347)" "60y" "" "" "" "" "" "" "" "" "" "0000054416" "03981" "00074665" "01604" "Familial, autosomal dominant" "" "upper limb muscle weakness (HP:0003484), slow progression (HP:0003677)" "67y" "" "" "" "" "" "" "" "" "" "0000054417" "03981" "00074666" "01604" "Isolated (sporadic)" "" "upper limb muscle weakness (HP:0003484)" "45y" "" "" "" "" "" "" "" "" "" "0000081959" "03381" "00104025" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000081974" "03381" "00104040" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "0000233059" "01544" "00307255" "03753" "Familial" "" "Unilateral" "" "00y09m" "HP:0000555" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000074826" "00074661" "1" "01604" "01604" "2016-07-13 17:03:58" "" "" "PCR;SEQ" "DNA" "" "" "0000074827" "00074662" "1" "01604" "01604" "2016-07-13 17:09:32" "" "" "PCR;SEQ" "DNA" "" "" "0000074828" "00074663" "1" "01604" "01604" "2016-07-13 17:15:29" "" "" "PCR;SEQ" "DNA" "" "" "0000074829" "00074664" "1" "01604" "01604" "2016-07-13 17:18:35" "" "" "PCR;SEQ" "DNA" "" "" "0000074830" "00074665" "1" "01604" "01604" "2016-07-13 17:22:30" "" "" "PCR;SEQ" "DNA" "" "" "0000074831" "00074666" "1" "01604" "01604" "2016-07-13 17:27:42" "" "" "PCR;SEQ" "DNA" "" "" "0000104496" "00104025" "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" "" "" "0000134103" "00133266" "1" "02312" "02312" "2017-11-15 09:31:45" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308397" "00307255" "1" "03753" "03753" "2020-08-06 22:47:25" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000074826" "ERBB4" "0000074827" "ERBB4" "0000074828" "ERBB4" "0000074829" "ERBB4" "0000074830" "ERBB4" "0000074831" "ERBB4" "0000308287" "RB1" ## 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 = 96 "{{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}}" "0000003761" "3" "50" "2" "212252809" "212252809" "subst" "0" "00037" "ERBB4_000001" "g.212252809G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.211388084G>A" "" "VUS" "" "0000003762" "3" "50" "2" "212746327" "212746327" "subst" "0" "00037" "ERBB4_000002" "g.212746327C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.211881602C>G" "" "VUS" "" "0000119924" "1" "90" "2" "212288966" "212288966" "subst" "1.62653E-5" "01604" "ERBB4_000003" "g.212288966C>T" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211424241C>T" "" "pathogenic" "" "0000119925" "11" "90" "2" "212288966" "212288966" "subst" "1.62653E-5" "01604" "ERBB4_000003" "g.212288966C>T" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211424241C>T" "" "pathogenic" "" "0000119926" "11" "90" "2" "212288966" "212288966" "subst" "1.62653E-5" "01604" "ERBB4_000003" "g.212288966C>T" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211424241C>T" "" "pathogenic" "" "0000119927" "11" "90" "2" "212288966" "212288966" "subst" "1.62653E-5" "01604" "ERBB4_000003" "g.212288966C>T" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211424241C>T" "" "pathogenic" "" "0000119928" "11" "90" "2" "212288966" "212288966" "subst" "1.62653E-5" "01604" "ERBB4_000003" "g.212288966C>T" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "Germline" "yes" "" "0" "" "" "g.211424241C>T" "" "pathogenic" "" "0000169377" "0" "70" "2" "212615399" "212615399" "subst" "9.34048E-5" "00587" "ERBB4_000004" "g.212615399C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.211750674C>T" "" "likely pathogenic" "" "0000169445" "0" "70" "2" "212652833" "212652833" "subst" "0.000231837" "00587" "ERBB4_000005" "g.212652833G>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.211788108G>T" "" "likely pathogenic" "" "0000223789" "0" "30" "2" "212573300" "212573304" "del" "0" "02312" "ERBB4_000006" "g.212573300_212573304del" "" "" "" "NG_011805.1:g.835055_835059delAAACA" "" "De novo" "" "" "0" "" "" "g.211708575_211708579del" "" "likely benign" "" "0000225110" "0" "90" "2" "212248444" "212248444" "subst" "4.06855E-5" "00006" "ERBB4_000007" "g.212248444G>A" "" "{PMID:Takahashi 2013:24119685}, {DOI:Takahashi 2013:10.1016/j.ajhg.2013.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.211383719G>A" "" "pathogenic" "" "0000249920" "0" "10" "2" "212543924" "212543924" "subst" "0.394341" "02329" "ERBB4_000020" "g.212543924A>G" "" "" "" "ERBB4(NM_005235.2):c.1490-15T>C, ERBB4(NM_005235.3):c.1490-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211679199A>G" "" "benign" "" "0000249960" "0" "10" "2" "212578393" "212578393" "del" "0" "02329" "ERBB4_000026" "g.212578393del" "" "" "" "ERBB4(NM_005235.2):c.884-7delT, ERBB4(NM_005235.3):c.884-7delT, ERBB4(NM_005235.3):c.884-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211713668del" "" "benign" "" "0000250344" "0" "30" "2" "212576777" "212576777" "subst" "0.00268382" "02329" "ERBB4_000023" "g.212576777A>C" "" "" "" "ERBB4(NM_005235.2):c.1122T>G (p.H374Q), ERBB4(NM_005235.3):c.1122T>G (p.H374Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211712052A>C" "" "likely benign" "" "0000250383" "0" "30" "2" "212578319" "212578319" "subst" "1.62477E-5" "02329" "ERBB4_000024" "g.212578319A>G" "" "" "" "ERBB4(NM_005235.3):c.938T>C (p.M313T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211713594A>G" "" "likely benign" "" "0000250410" "0" "10" "2" "212495347" "212495347" "del" "0" "02329" "ERBB4_000018" "g.212495347del" "" "" "" "ERBB4(NM_005235.3):c.1947-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211630622del" "" "benign" "" "0000253144" "0" "10" "2" "212543924" "212543924" "subst" "0.394341" "01943" "ERBB4_000020" "g.212543924A>G" "" "" "" "ERBB4(NM_005235.2):c.1490-15T>C, ERBB4(NM_005235.3):c.1490-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211679199A>G" "" "benign" "" "0000254051" "0" "30" "2" "212578393" "212578393" "del" "0" "01943" "ERBB4_000026" "g.212578393del" "" "" "" "ERBB4(NM_005235.2):c.884-7delT, ERBB4(NM_005235.3):c.884-7delT, ERBB4(NM_005235.3):c.884-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211713668del" "" "likely benign" "" "0000268877" "0" "30" "2" "212570071" "212570071" "subst" "0.00076745" "02329" "ERBB4_000022" "g.212570071G>A" "" "" "" "ERBB4(NM_005235.2):c.1170C>T (p.N390=), ERBB4(NM_005235.3):c.1170C>T (p.N390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211705346G>A" "" "likely benign" "" "0000268878" "0" "50" "2" "212530199" "212530199" "subst" "3.24968E-5" "02329" "ERBB4_000019" "g.212530199G>T" "" "" "" "ERBB4(NM_005235.3):c.1720C>A (p.P574T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211665474G>T" "" "VUS" "" "0000268881" "0" "30" "2" "212488632" "212488632" "subst" "0.00577567" "02329" "ERBB4_000014" "g.212488632T>C" "" "" "" "ERBB4(NM_005235.3):c.2202+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211623907T>C" "" "likely benign" "" "0000268882" "0" "10" "2" "212289001" "212289001" "subst" "0.00356379" "02329" "ERBB4_000013" "g.212289001G>A" "" "" "" "ERBB4(NM_005235.2):c.2745C>T (p.T915=), ERBB4(NM_005235.3):c.2745C>T (p.(Thr915=), p.T915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211424276G>A" "" "benign" "" "0000268883" "0" "10" "2" "212285345" "212285348" "del" "0" "02329" "ERBB4_000011" "g.212285345_212285348del" "" "" "" "ERBB4(NM_005235.2):c.2965-7_2965-4delCTTT, ERBB4(NM_005235.3):c.2965-7_2965-4delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211420620_211420623del" "" "benign" "" "0000268884" "0" "10" "2" "212251864" "212251864" "subst" "0.300432" "02329" "ERBB4_000010" "g.212251864T>C" "" "" "" "ERBB4(NM_005235.2):c.3195A>G (p.V1065=), ERBB4(NM_005235.3):c.3195A>G (p.V1065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211387139T>C" "" "benign" "" "0000268885" "0" "30" "2" "212251726" "212251726" "subst" "0" "02329" "ERBB4_000009" "g.212251726T>C" "" "" "" "ERBB4(NM_005235.3):c.3333A>G (p.L1111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211387001T>C" "" "likely benign" "" "0000268886" "0" "30" "2" "212615425" "212615425" "subst" "5.68569E-5" "02329" "ERBB4_000031" "g.212615425T>C" "" "" "" "ERBB4(NM_005235.3):c.561A>G (p.G187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211750700T>C" "" "likely benign" "" "0000268888" "0" "10" "2" "212578392" "212578393" "del" "0" "02329" "ERBB4_000027" "g.212578392_212578393del" "" "" "" "ERBB4(NM_005235.3):c.884-8_884-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211713667_211713668del" "" "benign" "" "0000268890" "0" "30" "2" "212578391" "212578393" "del" "0" "02329" "ERBB4_000028" "g.212578391_212578393del" "" "" "" "ERBB4(NM_005235.3):c.884-9_884-7delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211713666_211713668del" "" "likely benign" "" "0000276229" "0" "30" "2" "212568934" "212568934" "subst" "2.43787E-5" "01943" "ERBB4_000021" "g.212568934T>C" "" "" "" "ERBB4(NM_005235.2):c.1199-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211704209T>C" "" "likely benign" "" "0000276230" "0" "30" "2" "212488647" "212488647" "subst" "0.00114975" "01943" "ERBB4_000015" "g.212488647T>C" "" "" "" "ERBB4(NM_005235.2):c.2202A>G (p.K734=), ERBB4(NM_005235.3):c.2202A>G (p.K734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211623922T>C" "" "likely benign" "" "0000276231" "0" "30" "2" "212289001" "212289001" "subst" "0.00356379" "01943" "ERBB4_000013" "g.212289001G>A" "" "" "" "ERBB4(NM_005235.2):c.2745C>T (p.T915=), ERBB4(NM_005235.3):c.2745C>T (p.(Thr915=), p.T915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211424276G>A" "" "likely benign" "" "0000276232" "0" "10" "2" "212285345" "212285348" "del" "0" "01943" "ERBB4_000011" "g.212285345_212285348del" "" "" "" "ERBB4(NM_005235.2):c.2965-7_2965-4delCTTT, ERBB4(NM_005235.3):c.2965-7_2965-4delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211420620_211420623del" "" "benign" "" "0000276233" "0" "10" "2" "212251864" "212251864" "subst" "0.300432" "01943" "ERBB4_000010" "g.212251864T>C" "" "" "" "ERBB4(NM_005235.2):c.3195A>G (p.V1065=), ERBB4(NM_005235.3):c.3195A>G (p.V1065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211387139T>C" "" "benign" "" "0000276234" "0" "30" "2" "212248358" "212248358" "subst" "6.10163E-5" "01943" "ERBB4_000008" "g.212248358G>A" "" "" "" "ERBB4(NM_005235.2):c.3909C>T (p.H1303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211383633G>A" "" "likely benign" "" "0000276235" "0" "30" "2" "212589894" "212589894" "subst" "0.000219348" "01943" "ERBB4_000030" "g.212589894T>C" "" "" "" "ERBB4(NM_005235.2):c.648A>G (p.Q216=), ERBB4(NM_005235.3):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211725169T>C" "" "likely benign" "" "0000276236" "0" "30" "2" "213403165" "213403165" "subst" "2.87043E-5" "01943" "ERBB4_000032" "g.213403165G>T" "" "" "" "ERBB4(NM_005235.2):c.82+8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212538441G>T" "" "likely benign" "" "0000328073" "0" "50" "2" "212288967" "212288967" "subst" "8.13339E-6" "01804" "ERBB4_000012" "g.212288967G>A" "" "" "" "ERBB4(NM_005235.2):c.2779C>T (p.(Arg927Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.211424242G>A" "" "VUS" "" "0000514124" "0" "30" "2" "212248478" "212248478" "subst" "0" "02329" "ERBB4_000033" "g.212248478G>C" "" "" "" "ERBB4(NM_005235.3):c.3789C>G (p.S1263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211383753G>C" "" "likely benign" "" "0000514127" "0" "30" "2" "212248660" "212248660" "subst" "4.0657E-6" "01943" "ERBB4_000034" "g.212248660C>A" "" "" "" "ERBB4(NM_005235.2):c.3607G>T (p.V1203L), ERBB4(NM_005235.3):c.3607G>T (p.V1203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211383935C>A" "" "likely benign" "" "0000514128" "0" "30" "2" "212248660" "212248660" "subst" "4.0657E-6" "02329" "ERBB4_000034" "g.212248660C>A" "" "" "" "ERBB4(NM_005235.2):c.3607G>T (p.V1203L), ERBB4(NM_005235.3):c.3607G>T (p.V1203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211383935C>A" "" "likely benign" "" "0000514138" "0" "50" "2" "212251613" "212251613" "subst" "0.000121963" "01943" "ERBB4_000035" "g.212251613C>A" "" "" "" "ERBB4(NM_005235.2):c.3446G>T (p.G1149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211386888C>A" "" "VUS" "" "0000514139" "0" "50" "2" "212251644" "212251644" "subst" "2.84398E-5" "01943" "ERBB4_000036" "g.212251644G>A" "" "" "" "ERBB4(NM_005235.2):c.3415C>T (p.R1139W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211386919G>A" "" "VUS" "" "0000514196" "0" "30" "2" "212293119" "212293119" "subst" "0.00118028" "02329" "ERBB4_000037" "g.212293119G>A" "" "" "" "ERBB4(NM_005235.3):c.2719+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211428394G>A" "" "likely benign" "" "0000514197" "0" "50" "2" "212293207" "212293207" "subst" "0" "01943" "ERBB4_000038" "g.212293207A>G" "" "" "" "ERBB4(NM_005235.2):c.2645T>C (p.M882T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211428482A>G" "" "VUS" "" "0000514389" "0" "50" "2" "212483949" "212483949" "subst" "0" "01943" "ERBB4_000039" "g.212483949T>C" "" "" "" "ERBB4(NM_005235.2):c.2254A>G (p.I752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211619224T>C" "" "VUS" "" "0000514390" "0" "30" "2" "212488647" "212488647" "subst" "0.00114975" "02329" "ERBB4_000015" "g.212488647T>C" "" "" "" "ERBB4(NM_005235.2):c.2202A>G (p.K734=), ERBB4(NM_005235.3):c.2202A>G (p.K734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211623922T>C" "" "likely benign" "" "0000514391" "0" "30" "2" "212495336" "212495336" "subst" "0" "02329" "ERBB4_000040" "g.212495336G>A" "" "" "" "ERBB4(NM_005235.3):c.1947-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211630611G>A" "" "likely benign" "" "0000514392" "0" "30" "2" "212495336" "212495336" "dup" "0" "02329" "ERBB4_000041" "g.212495336dup" "" "" "" "ERBB4(NM_005235.3):c.1947-16dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211630611dup" "" "likely benign" "" "0000514393" "0" "10" "2" "212495347" "212495347" "dup" "0" "02329" "ERBB4_000042" "g.212495347dup" "" "" "" "ERBB4(NM_005235.3):c.1947-17dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211630622dup" "" "benign" "" "0000514420" "0" "30" "2" "212530217" "212530217" "subst" "0" "02329" "ERBB4_000043" "g.212530217C>T" "" "" "" "ERBB4(NM_005235.3):c.1717-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211665492C>T" "" "likely benign" "" "0000514431" "0" "30" "2" "212576875" "212576875" "subst" "0.000304826" "01943" "ERBB4_000044" "g.212576875A>G" "" "" "" "ERBB4(NM_005235.2):c.1024T>C (p.L342=), ERBB4(NM_005235.3):c.1024T>C (p.L342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211712150A>G" "" "likely benign" "" "0000514434" "0" "30" "2" "212578360" "212578360" "subst" "0" "02329" "ERBB4_000045" "g.212578360T>C" "" "" "" "ERBB4(NM_005235.3):c.897A>G (p.V299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713635T>C" "" "likely benign" "" "0000514435" "0" "30" "2" "212578392" "212578393" "dup" "0" "02329" "ERBB4_000046" "g.212578392_212578393dup" "" "" "" "ERBB4(NM_005235.3):c.884-7_884-6insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713667_211713668dup" "" "likely benign" "" "0000514437" "0" "10" "2" "212578393" "212578393" "dup" "0" "01943" "ERBB4_000047" "g.212578393dup" "" "" "" "ERBB4(NM_005235.2):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713668dup" "" "benign" "" "0000514438" "0" "10" "2" "212578393" "212578393" "dup" "0" "02329" "ERBB4_000047" "g.212578393dup" "" "" "" "ERBB4(NM_005235.2):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713668dup" "" "benign" "" "0000514441" "0" "30" "2" "212587119" "212587119" "subst" "0.00423739" "01943" "ERBB4_000048" "g.212587119T>C" "" "" "" "ERBB4(NM_005235.2):c.882A>G (p.P294=), ERBB4(NM_005235.3):c.882A>G (p.P294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211722394T>C" "" "likely benign" "" "0000514442" "0" "10" "2" "212587119" "212587119" "subst" "0.00423739" "02329" "ERBB4_000048" "g.212587119T>C" "" "" "" "ERBB4(NM_005235.2):c.882A>G (p.P294=), ERBB4(NM_005235.3):c.882A>G (p.P294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211722394T>C" "" "benign" "" "0000607424" "0" "30" "2" "212289001" "212289001" "subst" "0.00356379" "02326" "ERBB4_000013" "g.212289001G>A" "" "" "" "ERBB4(NM_005235.2):c.2745C>T (p.T915=), ERBB4(NM_005235.3):c.2745C>T (p.(Thr915=), p.T915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211424276G>A" "" "likely benign" "" "0000607458" "0" "30" "2" "212426691" "212426691" "subst" "4.06085E-6" "01943" "ERBB4_000049" "g.212426691G>T" "" "" "" "ERBB4(NM_005235.2):c.2424C>A (p.V808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211561966G>T" "" "likely benign" "" "0000607462" "0" "10" "2" "212537994" "212537994" "subst" "0.00311948" "02329" "ERBB4_000050" "g.212537994T>A" "" "" "" "ERBB4(NM_005235.3):c.1623-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211673269T>A" "" "benign" "" "0000607463" "0" "30" "2" "212543779" "212543779" "subst" "0" "01943" "ERBB4_000051" "g.212543779A>C" "" "" "" "ERBB4(NM_005235.2):c.1620T>G (p.D540E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211679054A>C" "" "likely benign" "" "0000607470" "0" "30" "2" "212578390" "212578390" "subst" "0" "02329" "ERBB4_000053" "g.212578390A>G" "" "" "" "ERBB4(NM_005235.3):c.884-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713665A>G" "" "likely benign" "" "0000620956" "0" "30" "2" "212576777" "212576777" "subst" "0.00268382" "01943" "ERBB4_000023" "g.212576777A>C" "" "" "" "ERBB4(NM_005235.2):c.1122T>G (p.H374Q), ERBB4(NM_005235.3):c.1122T>G (p.H374Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211712052A>C" "" "likely benign" "" "0000620957" "0" "30" "2" "212578312" "212578312" "subst" "4.0618E-6" "02329" "ERBB4_000052" "g.212578312T>C" "" "" "" "ERBB4(NM_005235.3):c.945A>G (p.V315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.211713587T>C" "" "likely benign" "" "0000675223" "0" "70" "2" "212570042" "212570042" "subst" "0" "03753" "ERBB4_000056" "g.212570042C>T" "0.083" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000676462" "0" "50" "2" "212288901" "212288901" "subst" "0.000101631" "01943" "ERBB4_000055" "g.212288901C>T" "" "" "" "ERBB4(NM_005235.2):c.2845G>A (p.V949I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682703" "0" "70" "2" "212285288" "212285288" "subst" "0" "03753" "ERBB4_000054" "g.212285288G>A" "0.127" "{PMID:Mendonca 2021:34478740}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000688614" "0" "30" "2" "212248626" "212248626" "subst" "0" "01943" "ERBB4_000057" "g.212248626T>C" "" "" "" "ERBB4(NM_005235.2):c.3641A>G (p.N1214S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688633" "0" "30" "2" "212543870" "212543870" "subst" "0" "01943" "ERBB4_000058" "g.212543870T>C" "" "" "" "ERBB4(NM_005235.2):c.1529A>G (p.D510G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718414" "0" "30" "2" "212248791" "212248791" "subst" "0" "02329" "ERBB4_000059" "g.212248791G>A" "" "" "" "ERBB4(NM_005235.3):c.3482-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800330" "0" "30" "2" "212426661" "212426661" "subst" "4.06078E-6" "01943" "ERBB4_000060" "g.212426661T>C" "" "" "" "ERBB4(NM_005235.2):c.2454A>G (p.Q818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800340" "0" "50" "2" "212566730" "212566730" "subst" "4.06075E-6" "02327" "ERBB4_000061" "g.212566730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800341" "0" "30" "2" "212570071" "212570071" "subst" "0.00076745" "01943" "ERBB4_000022" "g.212570071G>A" "" "" "" "ERBB4(NM_005235.2):c.1170C>T (p.N390=), ERBB4(NM_005235.3):c.1170C>T (p.N390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800342" "0" "30" "2" "212576875" "212576875" "subst" "0.000304826" "02329" "ERBB4_000044" "g.212576875A>G" "" "" "" "ERBB4(NM_005235.2):c.1024T>C (p.L342=), ERBB4(NM_005235.3):c.1024T>C (p.L342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884708" "0" "30" "2" "212248660" "212248660" "subst" "4.0657E-6" "02326" "ERBB4_000034" "g.212248660C>A" "" "" "" "ERBB4(NM_005235.2):c.3607G>T (p.V1203L), ERBB4(NM_005235.3):c.3607G>T (p.V1203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884728" "0" "30" "2" "212293119" "212293119" "subst" "0.00118028" "02326" "ERBB4_000037" "g.212293119G>A" "" "" "" "ERBB4(NM_005235.3):c.2719+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884782" "0" "30" "2" "212495346" "212495347" "dup" "0" "02326" "ERBB4_000062" "g.212495346_212495347dup" "" "" "" "ERBB4(NM_005235.3):c.1947-18_1947-17insTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884790" "0" "30" "2" "212576875" "212576875" "subst" "0.000304826" "02326" "ERBB4_000044" "g.212576875A>G" "" "" "" "ERBB4(NM_005235.2):c.1024T>C (p.L342=), ERBB4(NM_005235.3):c.1024T>C (p.L342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923582" "0" "10" "2" "212576777" "212576777" "subst" "0.00268382" "02326" "ERBB4_000023" "g.212576777A>C" "" "" "" "ERBB4(NM_005235.2):c.1122T>G (p.H374Q), ERBB4(NM_005235.3):c.1122T>G (p.H374Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992413" "0" "50" "2" "212248449" "212248449" "subst" "8.13676E-6" "01804" "ERBB4_000065" "g.212248449C>T" "" "" "" "ERBB4(NM_005235.2):c.3818G>A (p.(Arg1273Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992423" "0" "50" "2" "212293129" "212293129" "subst" "2.03399E-5" "01804" "ERBB4_000066" "g.212293129T>A" "" "" "" "ERBB4(NM_005235.2):c.2719+4A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992424" "0" "30" "2" "212293178" "212293178" "subst" "6.10242E-5" "01804" "ERBB4_000067" "g.212293178T>C" "" "" "" "ERBB4(NM_005235.2):c.2674A>G (p.(Ile892Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992436" "0" "30" "2" "212426623" "212426623" "subst" "4.46748E-5" "01804" "ERBB4_000068" "g.212426623C>T" "" "" "" "ERBB4(NM_005235.2):c.2487+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992446" "0" "50" "2" "212566818" "212566818" "subst" "0" "01804" "ERBB4_000069" "g.212566818C>T" "" "" "" "ERBB4(NM_005235.2):c.1363G>A (p.(Ala455Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992447" "0" "30" "2" "212570063" "212570063" "subst" "2.84243E-5" "01804" "ERBB4_000070" "g.212570063C>T" "" "" "" "ERBB4(NM_005235.2):c.1178G>A (p.(Arg393Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992448" "0" "50" "2" "212587189" "212587189" "subst" "8.12328E-6" "01804" "ERBB4_000071" "g.212587189G>A" "" "" "" "ERBB4(NM_005235.2):c.812C>T (p.(Thr271Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992450" "0" "50" "2" "212615424" "212615424" "subst" "4.06114E-6" "01804" "ERBB4_000072" "g.212615424G>A" "" "" "" "ERBB4(NM_005235.2):c.562C>T (p.(Arg188Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992451" "0" "30" "2" "212652804" "212652804" "subst" "8.13233E-6" "01804" "ERBB4_000073" "g.212652804G>A" "" "" "" "ERBB4(NM_005235.2):c.502C>T (p.(Arg168Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992452" "0" "30" "2" "212652834" "212652834" "subst" "4.88019E-5" "01804" "ERBB4_000074" "g.212652834C>T" "" "" "" "ERBB4(NM_005235.2):c.472G>A (p.(Ala158Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992453" "0" "30" "2" "213403192" "213403192" "subst" "3.27305E-5" "01804" "ERBB4_000075" "g.213403192C>A" "" "" "" "ERBB4(NM_005235.2):c.63G>T (p.(Gln21His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032930" "0" "30" "2" "212289001" "212289001" "subst" "0.00356379" "01804" "ERBB4_000013" "g.212289001G>A" "" "" "" "ERBB4(NM_005235.2):c.2745C>T (p.T915=), ERBB4(NM_005235.3):c.2745C>T (p.(Thr915=), p.T915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032935" "0" "10" "2" "212578393" "212578393" "dup" "0" "02326" "ERBB4_000047" "g.212578393dup" "" "" "" "ERBB4(NM_005235.2):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-7_884-6insT, ERBB4(NM_005235.3):c.884-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032936" "0" "50" "2" "212589910" "212589910" "subst" "2.03145E-5" "01804" "ERBB4_000076" "g.212589910G>A" "" "" "" "ERBB4(NM_005235.3):c.632C>T (p.(Thr211Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045801" "0" "30" "2" "212578393" "212578393" "del" "0" "02326" "ERBB4_000026" "g.212578393del" "" "" "" "ERBB4(NM_005235.2):c.884-7delT, ERBB4(NM_005235.3):c.884-7delT, ERBB4(NM_005235.3):c.884-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045802" "0" "10" "2" "212587164" "212587164" "subst" "0.00038181" "02326" "ERBB4_000077" "g.212587164G>A" "" "" "" "ERBB4(NM_005235.3):c.837C>T (p.F279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045803" "0" "10" "2" "212589894" "212589894" "subst" "0.000219348" "02326" "ERBB4_000030" "g.212589894T>C" "" "" "" "ERBB4(NM_005235.2):c.648A>G (p.Q216=), ERBB4(NM_005235.3):c.648A>G (p.Q216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ERBB4 ## Count = 96 "{{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}}" "0000003761" "00025247" "00" "3136" "-92" "3136" "-92" "c.3136-92C>T" "r.(=)" "p.(=)" "" "0000003762" "00025247" "00" "421" "65828" "421" "65828" "c.421+65828G>C" "r.(=)" "p.(=)" "" "0000119924" "00025247" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927Gln)" "23" "0000119925" "00025247" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927Gln)" "23" "0000119926" "00025247" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927Gln)" "23" "0000119927" "00025247" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927Gln)" "23" "0000119928" "00025247" "90" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927Gln)" "23" "0000169377" "00025247" "70" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196His)" "5" "0000169445" "00025247" "70" "473" "0" "473" "0" "c.473C>A" "r.(?)" "p.(Ala158Glu)" "4" "0000223789" "00025247" "30" "1125" "-3182" "1125" "-3178" "c.1125-3182_1125-3178del" "r.(?)" "p.(=)" "9i" "0000225110" "00025247" "90" "3823" "0" "3823" "0" "c.3823C>T" "r.(?)" "p.(Arg1275Trp)" "28" "0000249920" "00025247" "10" "1490" "-15" "1490" "-15" "c.1490-15T>C" "r.(=)" "p.(=)" "" "0000249960" "00025247" "10" "884" "-7" "884" "-7" "c.884-7del" "r.(=)" "p.(=)" "" "0000250344" "00025247" "30" "1122" "0" "1122" "0" "c.1122T>G" "r.(?)" "p.(His374Gln)" "" "0000250383" "00025247" "30" "938" "0" "938" "0" "c.938T>C" "r.(?)" "p.(Met313Thr)" "" "0000250410" "00025247" "10" "1947" "-18" "1947" "-18" "c.1947-18del" "r.(=)" "p.(=)" "" "0000253144" "00025247" "10" "1490" "-15" "1490" "-15" "c.1490-15T>C" "r.(=)" "p.(=)" "" "0000254051" "00025247" "30" "884" "-7" "884" "-7" "c.884-7del" "r.(=)" "p.(=)" "" "0000268877" "00025247" "30" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Asn390=)" "" "0000268878" "00025247" "50" "1720" "0" "1720" "0" "c.1720C>A" "r.(?)" "p.(Pro574Thr)" "" "0000268881" "00025247" "30" "2202" "15" "2202" "15" "c.2202+15A>G" "r.(=)" "p.(=)" "" "0000268882" "00025247" "10" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Thr915=)" "" "0000268883" "00025247" "10" "2965" "-7" "2965" "-4" "c.2965-7_2965-4del" "r.spl?" "p.?" "" "0000268884" "00025247" "10" "3195" "0" "3195" "0" "c.3195A>G" "r.(?)" "p.(Val1065=)" "" "0000268885" "00025247" "30" "3333" "0" "3333" "0" "c.3333A>G" "r.(?)" "p.(Leu1111=)" "" "0000268886" "00025247" "30" "561" "0" "561" "0" "c.561A>G" "r.(?)" "p.(Gly187=)" "" "0000268888" "00025247" "10" "884" "-8" "884" "-7" "c.884-8_884-7del" "r.(=)" "p.(=)" "" "0000268890" "00025247" "30" "884" "-9" "884" "-7" "c.884-9_884-7del" "r.(=)" "p.(=)" "" "0000276229" "00025247" "30" "1199" "-15" "1199" "-15" "c.1199-15A>G" "r.(=)" "p.(=)" "" "0000276230" "00025247" "30" "2202" "0" "2202" "0" "c.2202A>G" "r.(?)" "p.(Lys734=)" "" "0000276231" "00025247" "30" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Thr915=)" "" "0000276232" "00025247" "10" "2965" "-7" "2965" "-4" "c.2965-7_2965-4del" "r.spl?" "p.?" "" "0000276233" "00025247" "10" "3195" "0" "3195" "0" "c.3195A>G" "r.(?)" "p.(Val1065=)" "" "0000276234" "00025247" "30" "3909" "0" "3909" "0" "c.3909C>T" "r.(?)" "p.(His1303=)" "" "0000276235" "00025247" "30" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" "0000276236" "00025247" "30" "82" "8" "82" "8" "c.82+8C>A" "r.(=)" "p.(=)" "" "0000328073" "00025247" "50" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Arg927Ter)" "" "0000514124" "00025247" "30" "3789" "0" "3789" "0" "c.3789C>G" "r.(?)" "p.(Ser1263Arg)" "" "0000514127" "00025247" "30" "3607" "0" "3607" "0" "c.3607G>T" "r.(?)" "p.(Val1203Leu)" "" "0000514128" "00025247" "30" "3607" "0" "3607" "0" "c.3607G>T" "r.(?)" "p.(Val1203Leu)" "" "0000514138" "00025247" "50" "3446" "0" "3446" "0" "c.3446G>T" "r.(?)" "p.(Gly1149Val)" "" "0000514139" "00025247" "50" "3415" "0" "3415" "0" "c.3415C>T" "r.(?)" "p.(Arg1139Trp)" "" "0000514196" "00025247" "30" "2719" "14" "2719" "14" "c.2719+14C>T" "r.(=)" "p.(=)" "" "0000514197" "00025247" "50" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Met882Thr)" "" "0000514389" "00025247" "50" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Ile752Val)" "" "0000514390" "00025247" "30" "2202" "0" "2202" "0" "c.2202A>G" "r.(?)" "p.(Lys734=)" "" "0000514391" "00025247" "30" "1947" "-17" "1947" "-17" "c.1947-17C>T" "r.(=)" "p.(=)" "" "0000514392" "00025247" "30" "1947" "-17" "1947" "-17" "c.1947-17dup" "r.(=)" "p.(=)" "" "0000514393" "00025247" "10" "1947" "-18" "1947" "-18" "c.1947-18dup" "r.(=)" "p.(=)" "" "0000514420" "00025247" "30" "1717" "-15" "1717" "-15" "c.1717-15G>A" "r.(=)" "p.(=)" "" "0000514431" "00025247" "30" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Leu342=)" "" "0000514434" "00025247" "30" "897" "0" "897" "0" "c.897A>G" "r.(?)" "p.(Val299=)" "" "0000514435" "00025247" "30" "884" "-8" "884" "-7" "c.884-8_884-7dup" "r.(=)" "p.(=)" "" "0000514437" "00025247" "10" "884" "-7" "884" "-7" "c.884-7dup" "r.(=)" "p.(=)" "" "0000514438" "00025247" "10" "884" "-7" "884" "-7" "c.884-7dup" "r.(=)" "p.(=)" "" "0000514441" "00025247" "30" "882" "0" "882" "0" "c.882A>G" "r.(?)" "p.(Pro294=)" "" "0000514442" "00025247" "10" "882" "0" "882" "0" "c.882A>G" "r.(?)" "p.(Pro294=)" "" "0000607424" "00025247" "30" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Thr915=)" "" "0000607458" "00025247" "30" "2424" "0" "2424" "0" "c.2424C>A" "r.(?)" "p.(Val808=)" "" "0000607462" "00025247" "10" "1623" "-12" "1623" "-12" "c.1623-12A>T" "r.(=)" "p.(=)" "" "0000607463" "00025247" "30" "1620" "0" "1620" "0" "c.1620T>G" "r.(?)" "p.(Asp540Glu)" "" "0000607470" "00025247" "30" "884" "-17" "884" "-17" "c.884-17T>C" "r.(=)" "p.(=)" "" "0000620956" "00025247" "30" "1122" "0" "1122" "0" "c.1122T>G" "r.(?)" "p.(His374Gln)" "" "0000620957" "00025247" "30" "945" "0" "945" "0" "c.945A>G" "r.(?)" "p.(Val315=)" "" "0000675223" "00025247" "70" "1198" "1" "1198" "1" "c.1198+1G>A" "r.spl?" "p.?" "" "0000676462" "00025247" "50" "2845" "0" "2845" "0" "c.2845G>A" "r.(?)" "p.(Val949Ile)" "" "0000682703" "00025247" "70" "3013" "0" "3013" "0" "c.3013C>T" "r.(?)" "p.(Gln1005*)" "" "0000688614" "00025247" "30" "3641" "0" "3641" "0" "c.3641A>G" "r.(?)" "p.(Asn1214Ser)" "" "0000688633" "00025247" "30" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Asp510Gly)" "" "0000718414" "00025247" "30" "3482" "-6" "3482" "-6" "c.3482-6C>T" "r.(=)" "p.(=)" "" "0000800330" "00025247" "30" "2454" "0" "2454" "0" "c.2454A>G" "r.(?)" "p.(Gln818=)" "" "0000800340" "00025247" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484Lys)" "" "0000800341" "00025247" "30" "1170" "0" "1170" "0" "c.1170C>T" "r.(?)" "p.(Asn390=)" "" "0000800342" "00025247" "30" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Leu342=)" "" "0000884708" "00025247" "30" "3607" "0" "3607" "0" "c.3607G>T" "r.(?)" "p.(Val1203Leu)" "" "0000884728" "00025247" "30" "2719" "14" "2719" "14" "c.2719+14C>T" "r.(=)" "p.(=)" "" "0000884782" "00025247" "30" "1947" "-19" "1947" "-18" "c.1947-19_1947-18dup" "r.(=)" "p.(=)" "" "0000884790" "00025247" "30" "1024" "0" "1024" "0" "c.1024T>C" "r.(?)" "p.(Leu342=)" "" "0000923582" "00025247" "10" "1122" "0" "1122" "0" "c.1122T>G" "r.(?)" "p.(His374Gln)" "" "0000992413" "00025247" "50" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Arg1273Gln)" "" "0000992423" "00025247" "50" "2719" "4" "2719" "4" "c.2719+4A>T" "r.spl?" "p.?" "" "0000992424" "00025247" "30" "2674" "0" "2674" "0" "c.2674A>G" "r.(?)" "p.(Ile892Val)" "" "0000992436" "00025247" "30" "2487" "5" "2487" "5" "c.2487+5G>A" "r.spl?" "p.?" "" "0000992446" "00025247" "50" "1363" "0" "1363" "0" "c.1363G>A" "r.(?)" "p.(Ala455Thr)" "" "0000992447" "00025247" "30" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000992448" "00025247" "50" "812" "0" "812" "0" "c.812C>T" "r.(?)" "p.(Thr271Ile)" "" "0000992450" "00025247" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000992451" "00025247" "30" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Trp)" "" "0000992452" "00025247" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "" "0000992453" "00025247" "30" "63" "0" "63" "0" "c.63G>T" "r.(?)" "p.(Gln21His)" "" "0001032930" "00025247" "30" "2745" "0" "2745" "0" "c.2745C>T" "r.(?)" "p.(Thr915=)" "" "0001032935" "00025247" "10" "884" "-7" "884" "-7" "c.884-7dup" "r.(=)" "p.(=)" "" "0001032936" "00025247" "50" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Thr211Met)" "" "0001045801" "00025247" "30" "884" "-7" "884" "-7" "c.884-7del" "r.(=)" "p.(=)" "" "0001045802" "00025247" "10" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(=)" "" "0001045803" "00025247" "10" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Gln216=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003761" "0000000209" "0000003762" "0000074826" "0000119924" "0000074827" "0000119925" "0000074828" "0000119926" "0000074829" "0000119927" "0000074830" "0000119928" "0000074831" "0000225110" "0000104496" "0000169377" "0000104511" "0000169445" "0000134103" "0000223789" "0000308287" "0000675223" "0000308397" "0000682703"