### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HOMER2) # 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}}" "HOMER2" "homer homolog 2 (Drosophila)" "15" "q24.3" "unknown" "NG_029435.2" "UD_132376977285" "" "https://www.LOVD.nl/HOMER2" "" "1" "17513" "9455" "604799" "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/HOMER2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-06-17 11:47:24" "00006" "2023-11-08 15:20:51" ## 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}}" "00009530" "HOMER2" "transcript variant 1" "001" "NM_004839.3" "" "NP_004830.2" "" "" "" "-189" "1770" "1032" "83621476" "83517729" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "06261" "DFNA68" "?Deafness, autosomal dominant 68" "AD" "616707" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HOMER2" "06261" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00285109" "" "" "" "1" "" "00004" "{PMID:Azaiez 2015:25816005}" "" "" "" "" "" "0" "" "" "" "" "00291310" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291311" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00411547" "" "" "00411549" "1" "" "02416" "Vaché et al., submitted" "daughter of SU333" "F" "no" "France" "" "0" "" "" "Sicilia" "SU340" "00411548" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU332, mother of SU340" "F" "no" "France" "" "0" "" "" "Sicilia" "SU333" "00411549" "" "" "" "6" "" "02416" "Vaché et al., submitted" "3-generation family, mother of SU333, sister of SU561" "F" "no" "France" "" "0" "" "" "Sicilia" "SU332" "00411550" "" "" "00411549" "1" "" "02416" "Vaché et al., submitted" "brother of SU332" "M" "no" "France" "" "0" "" "" "Sicilia" "SU561" "00411551" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU332, mother of SU7517" "F" "no" "France" "" "0" "" "" "Sicilia" "SU334" "00411552" "" "" "00411549" "1" "" "02416" "Vaché submitted" "daughter of SU334" "F" "no" "France" "" "0" "" "" "Sicilia" "SU7517" "00441548" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC7869" "00441549" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC5851" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00285109" "05086" "00291310" "00198" "00291311" "00198" "00411547" "06877" "00411548" "06877" "00411549" "06877" "00411550" "06877" "00411551" "06877" "00411552" "06877" "00441548" "00000" "00441549" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 05086, 06261, 06877 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000218263" "05086" "00285109" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000286259" "00285109" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000292478" "00291310" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292479" "00291311" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000412817" "00411547" "1" "02416" "00110" "2022-06-15 16:52:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000412818" "00411548" "1" "02416" "00110" "2022-06-15 17:02:23" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412819" "00411549" "1" "02416" "00110" "2022-06-15 17:12:19" "00110" "2022-06-15 17:17:40" "SEQ;SEQ-NG-I" "DNA" "blood" "david_lovd" "0000412820" "00411550" "1" "02416" "00110" "2022-06-15 17:19:12" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412821" "00411551" "1" "02416" "00110" "2022-06-15 17:24:16" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000412822" "00411552" "1" "02416" "00110" "2022-06-15 17:29:24" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "gene panel" "0000443034" "00441548" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443035" "00441549" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000286259" "HOMER2" ## 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 = 21 "{{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}}" "0000289150" "0" "50" "15" "83561465" "83561465" "subst" "2.03681E-5" "01943" "HOMER2_000005" "g.83561465T>C" "" "" "" "HOMER2(NM_199330.2):c.134A>G (p.Y45C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82892713T>C" "" "VUS" "" "0000289151" "0" "50" "15" "83544138" "83544138" "subst" "0.000320932" "01943" "HOMER2_000004" "g.83544138T>C" "" "" "" "HOMER2(NM_199330.2):c.181A>G (p.I61V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82875386T>C" "" "VUS" "" "0000289152" "0" "30" "15" "83544085" "83544085" "subst" "0.0015677" "01943" "HOMER2_000003" "g.83544085G>A" "" "" "" "HOMER2(NM_199330.2):c.234C>T (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82875333G>A" "" "likely benign" "" "0000289153" "0" "30" "15" "83532943" "83532943" "subst" "0.00244849" "01943" "HOMER2_000002" "g.83532943G>A" "" "" "" "HOMER2(NM_199330.2):c.363C>T (p.I121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82864191G>A" "" "likely benign" "" "0000289154" "0" "30" "15" "83519982" "83519982" "subst" "0.00582193" "01943" "HOMER2_000001" "g.83519982T>C" "" "" "" "HOMER2(NM_199330.2):c.797A>G (p.E266G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82851230T>C" "" "likely benign" "" "0000350108" "0" "30" "15" "83561465" "83561465" "subst" "2.03681E-5" "02327" "HOMER2_000005" "g.83561465T>C" "" "" "" "HOMER2(NM_199330.2):c.134A>G (p.Y45C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82892713T>C" "" "likely benign" "" "0000555637" "0" "50" "15" "83518522" "83518522" "subst" "5.68648E-5" "01943" "HOMER2_000006" "g.83518522A>G" "" "" "" "HOMER2(NM_199330.2):c.1010T>C (p.I337T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82849770A>G" "" "VUS" "" "0000555638" "0" "50" "15" "83527911" "83527911" "subst" "0" "01943" "HOMER2_000007" "g.83527911G>A" "" "" "" "HOMER2(NM_199330.2):c.397C>T (p.R133C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82859159G>A" "" "VUS" "" "0000642001" "1" "99" "15" "83523493" "83523493" "subst" "0" "00004" "HOMER2_000008" "g.83523493C>G" "" "{DB:DVD}, {PMID:Azaiez 2015:25816005}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.82854741C>G" "" "pathogenic" "" "0000649167" "1" "10" "15" "83519927" "83519927" "subst" "0.0103329" "03575" "HOMER2_000009" "g.83519927G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs74416301}" "Germline" "" "rs74416301" "0" "" "" "g.82851175G>A" "" "benign" "" "0000649168" "1" "10" "15" "83519982" "83519982" "subst" "0.00582193" "03575" "HOMER2_000001" "g.83519982T>C" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs79448007}" "Germline" "" "rs79448007" "0" "" "" "g.82851230T>C" "" "benign" "" "0000725324" "0" "30" "15" "83527843" "83527843" "subst" "0.000109654" "01943" "HOMER2_000010" "g.83527843G>A" "" "" "" "HOMER2(NM_199330.2):c.465C>T (p.A155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806951" "0" "30" "15" "83518476" "83518476" "subst" "2.86254E-5" "01943" "HOMER2_000011" "g.83518476G>A" "" "" "" "HOMER2(NM_199330.2):c.1056C>T (p.T352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870183" "21" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "Vaché et al., submitted" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000870184" "21" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "Vaché et al., submitted" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000870186" "10" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "Vaché et al., submitted" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000870188" "10" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "Vaché et al., submitted" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000870190" "21" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "Vaché et al., submitted" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000870193" "21" "90" "15" "83518468" "83518468" "subst" "0" "00110" "HOMER2_000012" "g.83518468T>C" "" "Vaché et al., submitted" "" "NM_199330.2:c.1064A>G (Ter355TrpextTer10)" "" "Germline" "yes" "" "0" "" "" "g.82849716T>C" "" "pathogenic (dominant)" "ACMG" "0000944393" "0" "90" "15" "83523397" "83523397" "subst" "2.87071E-5" "00006" "HOMER2_000013" "g.83523397T>G" "" "{PMID:Boucher 2020:33229591}" "" "NM_199330:c.683A>C" "" "Germline" "" "" "0" "" "" "g.82854645T>G" "" "VUS" "" "0000944394" "0" "90" "15" "83561553" "83561553" "subst" "0" "00006" "HOMER2_000014" "g.83561553T>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.82892801T>A" "" "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 HOMER2 ## Count = 21 "{{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}}" "0000289150" "00009530" "50" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Tyr45Cys)" "" "0000289151" "00009530" "50" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Ile61Val)" "" "0000289152" "00009530" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ala78=)" "" "0000289153" "00009530" "30" "363" "0" "363" "0" "c.363C>T" "r.(?)" "p.(Ile121=)" "" "0000289154" "00009530" "30" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Glu255Gly)" "" "0000350108" "00009530" "30" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Tyr45Cys)" "" "0000555637" "00009530" "50" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Ile326Thr)" "" "0000555638" "00009530" "50" "388" "-24" "388" "-24" "c.388-24C>T" "r.(=)" "p.(=)" "" "0000642001" "00009530" "99" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Arg185Pro)" "0" "0000649167" "00009530" "10" "819" "0" "819" "0" "c.819C>T" "r.(=)" "p.(=)" "" "0000649168" "00009530" "10" "764" "0" "764" "0" "c.764A>G" "r.(?)" "p.(Glu255Gly)" "" "0000725324" "00009530" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000806951" "00009530" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Thr341=)" "" "0000870183" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "9" "0000870184" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "09" "0000870186" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "09" "0000870188" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "09" "0000870190" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "09" "0000870193" "00009530" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(*344Trpext*10)" "09" "0000944393" "00009530" "90" "650" "0" "650" "0" "c.650A>C" "r.(?)" "p.(Lys217Thr)" "" "0000944394" "00009530" "90" "46" "0" "46" "0" "c.46A>T" "r.(?)" "p.(Ile16Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000286259" "0000642001" "0000292478" "0000649167" "0000292479" "0000649168" "0000412817" "0000870183" "0000412818" "0000870184" "0000412819" "0000870186" "0000412820" "0000870188" "0000412821" "0000870190" "0000412822" "0000870193" "0000443034" "0000944393" "0000443035" "0000944394"