### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ERBB3) # 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}}" "ERBB3" "v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)" "12" "q13" "unknown" "NC_000012.11" "UD_132085224327" "" "https://www.LOVD.nl/ERBB3" "" "1" "3431" "2065" "190151" "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/ERBB3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-05 14:59:23" "00000" "2022-05-09 15:24:52" ## 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}}" "00025661" "ERBB3" "v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3, transcript variant 1" "001" "NM_001982.3" "" "NP_001973.2" "" "" "" "-276" "5481" "4029" "56473809" "56497291" "00006" "2021-12-05 14:49:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00685" "LCCS2" "contracture syndrome, lethal, congenital, type 2 (LCCS-2)" "AR" "607598" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28" "06158" "-" "{?Erythroleukemia, familial, susceptibility to}" "AD" "133180" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ERBB3" "00139" "ERBB3" "00685" "ERBB3" "06158" ## 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}}" "00204350" "" "" "" "5" "" "00000" "{PMID:Joziasse 2011:21248739}" "3-generation family, 1 affected" "M" "-" "Netherlands" "" "0" "" "" "" "FamPatIII2" "00395401" "" "" "00204350" "2" "" "00006" "{PMID:Joziasse 2011:21248739}" "mother/sister" "F" "" "Netherlands" "" "0" "" "" "" "FamPatII2/III3" "00399529" "" "" "" "1" "" "00006" "{PMID:Kury 2022:35051358}" "" "F" "" "" "" "0" "" "" "" "Fam6Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00204350" "04204" "00395401" "00000" "00399529" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00685, 04204, 05611, 06158 ## Count = 2 "{{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}}" "0000288600" "04204" "00204350" "00006" "Unknown" "" "Down syndrome, congenital heart defect; unaffected carrier father" "" "" "" "" "" "" "" "" "congenital heart defect" "0000292634" "05611" "00399529" "00006" "Isolated (sporadic)" "15y" "weight 30 (-4.35), height 125.7 (-6), OFC 50 (-2.86); growth failure; severe developmental/intellectual delay ; not achieved walking; speech delay, not achieved first words, no speech; hypotonia; no seizures; 1y/2y/12y-MRI brain hypomyelination subcrotical white matter bilaterally in anterotemporal and subinsular areas, loss of white matter volume in the parieto-occipital areas with thin splenium, minimal volume loss vermis; behavioural anomalies, autism spectrum disorder; no cardiac anomalies; bilateral ptosis, hypermetropia, astigmatism.; no urogenital/kidney anomalies; hands brachdactyly, proximal implant of thumbs; feet bilateral talipes; short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; feeding difficulties; facial dysmorphism, short broad neck, thoraco-lumbal kyfosis, pterygyum, bilateral hip dysplasia; hypertrichosis" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ## 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}}" "0000205380" "00204350" "1" "00000" "00000" "2013-04-10 11:05:38" "00008" "2013-04-10 11:20:05" "SEQ" "DNA" "" "" "0000396639" "00395401" "1" "00006" "00006" "2021-12-05 14:57:21" "" "" "SEQ" "DNA" "" "" "0000400772" "00399529" "1" "00006" "00006" "2022-01-21 14:10:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000205380" "ACVR1" ## 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 = 26 "{{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}}" "0000248892" "0" "10" "12" "56494998" "56494998" "subst" "0.0892528" "02325" "ERBB3_000019" "g.56494998A>T" "" "" "" "ERBB3(NM_001982.3):c.3355A>T (p.S1119C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56101214A>T" "" "benign" "" "0000249175" "0" "10" "12" "56493822" "56493822" "subst" "0.365529" "02325" "ERBB3_000016" "g.56493822A>C" "" "" "" "ERBB3(NM_001982.3):c.3129+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56100038A>C" "" "benign" "" "0000267862" "0" "50" "12" "56493517" "56493517" "subst" "0" "02325" "ERBB3_000015" "g.56493517T>G" "" "" "" "ERBB3(NM_001982.3):c.2925T>G (p.Y975*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56099733T>G" "" "VUS" "" "0000267863" "0" "10" "12" "56494991" "56494991" "subst" "0.346977" "02325" "ERBB3_000018" "g.56494991G>A" "" "" "" "ERBB3(NM_001982.3):c.3348G>A (p.R1116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56101207G>A" "" "benign" "" "0000271245" "0" "30" "12" "56487323" "56487323" "subst" "0.000282504" "02326" "ERBB3_000011" "g.56487323G>A" "" "" "" "ERBB3(NM_001982.3):c.1469G>A (p.R490H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56093539G>A" "" "likely benign" "" "0000276227" "0" "50" "12" "56486839" "56486839" "subst" "0.0000203062" "01943" "ERBB3_000007" "g.56486839T>C" "" "" "" "ERBB3(NM_001982.3):c.1253T>C (p.I418T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56093055T>C" "" "VUS" "" "0000276228" "0" "50" "12" "56495092" "56495092" "subst" "0.0000243926" "01943" "ERBB3_000022" "g.56495092G>A" "" "" "" "ERBB3(NM_001982.3):c.3449G>A (p.G1150E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56101308G>A" "" "VUS" "" "0000322917" "0" "30" "12" "56478903" "56478903" "subst" "0.0000081213" "01804" "ERBB3_000001" "g.56478903T>C" "" "" "" "ERBB3(NM_001005915.1):c.359T>C (p.(Met120Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56085119T>C" "" "likely benign" "" "0000322919" "0" "30" "12" "56480377" "56480377" "subst" "0.00000406058" "01804" "ERBB3_000003" "g.56480377G>A" "" "" "" "ERBB3(NM_001005915.1):c.*1281G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56086593G>A" "" "likely benign" "" "0000322920" "0" "50" "12" "56481885" "56481885" "subst" "0.00000406184" "01804" "ERBB3_000004" "g.56481885G>T" "" "" "" "ERBB3(NM_001005915.1):c.*2789G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56088101G>T" "" "VUS" "" "0000322924" "0" "50" "12" "56487549" "56487549" "subst" "0" "01804" "ERBB3_000012" "g.56487549G>A" "" "" "" "ERBB3(NM_001982.3):c.1482G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56093765G>A" "" "VUS" "" "0000322925" "0" "50" "12" "56489594" "56489594" "subst" "0.00000812183" "01804" "ERBB3_000013" "g.56489594A>G" "" "" "" "ERBB3(NM_001982.3):c.2055+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56095810A>G" "" "VUS" "" "0000341734" "0" "50" "12" "56495022" "56495022" "subst" "0.0000243718" "02327" "ERBB3_000020" "g.56495022C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56101238C>T" "" "VUS" "" "0000342932" "0" "50" "12" "56487212" "56487212" "subst" "0.0000731107" "02327" "ERBB3_000009" "g.56487212G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56093428G>A" "" "VUS" "" "0000548679" "0" "50" "12" "56477669" "56477669" "subst" "0.0000730911" "02325" "ERBB3_000005" "g.56477669G>A" "" "" "" "ERBB3(NM_001982.3):c.217G>A (p.D73N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56083885G>A" "" "VUS" "" "0000548680" "0" "30" "12" "56490338" "56490338" "subst" "0" "01804" "ERBB3_000014" "g.56490338A>C" "" "" "" "ERBB3(NM_001982.3):c.2107A>C (p.(Ile703Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56096554A>C" "" "likely benign" "" "0000548681" "0" "30" "12" "56494932" "56494932" "subst" "0.000637734" "02326" "ERBB3_000017" "g.56494932T>C" "" "" "" "ERBB3(NM_001982.3):c.3289T>C (p.(Ser1097Pro), p.S1097P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56101148T>C" "" "likely benign" "" "0000548684" "0" "50" "12" "56495751" "56495751" "subst" "0.000036569" "01804" "ERBB3_000025" "g.56495751G>A" "" "" "" "ERBB3(NM_001982.3):c.3941G>A (p.(Arg1314His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56101967G>A" "" "VUS" "" "0000805852" "0" "30" "12" "56474181" "56474181" "subst" "0.000236042" "02326" "ERBB3_000029" "g.56474181A>G" "" "" "" "ERBB3(NM_001982.3):c.82+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805853" "0" "50" "12" "56478899" "56478899" "subst" "0.00000406081" "02325" "ERBB3_000030" "g.56478899G>A" "" "" "" "ERBB3(NM_001982.3):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805854" "0" "50" "12" "56494932" "56494932" "subst" "0.000637734" "01804" "ERBB3_000017" "g.56494932T>C" "" "" "" "ERBB3(NM_001982.3):c.3289T>C (p.(Ser1097Pro), p.S1097P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805855" "0" "50" "12" "56495339" "56495339" "subst" "0.00239184" "02325" "ERBB3_000031" "g.56495339C>A" "" "" "" "ERBB3(NM_001982.3):c.3529C>A (p.L1177I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000828287" "21" "50" "12" "56495316" "56495316" "subst" "0" "00006" "ERBB3_000032" "g.56495316C>T" "" "{PMID:Joziasse 2011:21248739}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000828290" "21" "50" "12" "56495316" "56495316" "subst" "0" "00006" "ERBB3_000032" "g.56495316C>T" "" "{PMID:Joziasse 2011:21248739}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833766" "1" "50" "12" "56486839" "56486839" "subst" "0.0000203062" "00006" "ERBB3_000007" "g.56486839T>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833767" "2" "50" "12" "56495092" "56495092" "subst" "0.00000406544" "00006" "ERBB3_000033" "g.56495092G>C" "" "{PMID:Kury 2022:35051358}" "" "" "" "Germline" "" "" "0" "" "" "" "" "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 ERBB3 ## Count = 26 "{{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}}" "0000248892" "00025661" "10" "3355" "0" "3355" "0" "c.3355A>T" "r.(?)" "p.(Ser1119Cys)" "" "0000249175" "00025661" "10" "3129" "9" "3129" "9" "c.3129+9A>C" "r.(=)" "p.(=)" "" "0000267862" "00025661" "50" "2925" "0" "2925" "0" "c.2925T>G" "r.(?)" "p.(Tyr975Ter)" "" "0000267863" "00025661" "10" "3348" "0" "3348" "0" "c.3348G>A" "r.(?)" "p.(Arg1116=)" "" "0000271245" "00025661" "30" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" "" "0000276227" "00025661" "50" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Ile418Thr)" "" "0000276228" "00025661" "50" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Gly1150Glu)" "" "0000322917" "00025661" "30" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Met120Thr)" "" "0000322919" "00025661" "30" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Asp162Asn)" "" "0000322920" "00025661" "50" "813" "0" "813" "0" "c.813G>T" "r.(?)" "p.(Gln271His)" "" "0000322924" "00025661" "50" "1482" "0" "1482" "0" "c.1482G>A" "r.(?)" "p.(Val494=)" "" "0000322925" "00025661" "50" "2055" "4" "2055" "4" "c.2055+4A>G" "r.spl?" "p.?" "" "0000341734" "00025661" "50" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Arg1127Cys)" "" "0000342932" "00025661" "50" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Arg453His)" "" "0000548679" "00025661" "50" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Asp73Asn)" "" "0000548680" "00025661" "30" "2107" "0" "2107" "0" "c.2107A>C" "r.(?)" "p.(Ile703Leu)" "" "0000548681" "00025661" "30" "3289" "0" "3289" "0" "c.3289T>C" "r.(?)" "p.(Ser1097Pro)" "" "0000548684" "00025661" "50" "3941" "0" "3941" "0" "c.3941G>A" "r.(?)" "p.(Arg1314His)" "" "0000805852" "00025661" "30" "82" "15" "82" "15" "c.82+15A>G" "r.(=)" "p.(=)" "" "0000805853" "00025661" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000805854" "00025661" "50" "3289" "0" "3289" "0" "c.3289T>C" "r.(?)" "p.(Ser1097Pro)" "" "0000805855" "00025661" "50" "3529" "0" "3529" "0" "c.3529C>A" "r.(?)" "p.(Leu1177Ile)" "" "0000828287" "00025661" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Thr1169Ile)" "" "0000828290" "00025661" "50" "3506" "0" "3506" "0" "c.3506C>T" "r.(?)" "p.(Thr1169Ile)" "" "0000833766" "00025661" "50" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Ile418Thr)" "" "0000833767" "00025661" "50" "3449" "0" "3449" "0" "c.3449G>C" "r.(?)" "p.(Gly1150Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000205380" "0000828287" "0000396639" "0000828290" "0000400772" "0000833766" "0000400772" "0000833767"