### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KDM4C) # 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}}" "KDM4C" "lysine (K)-specific demethylase 4C" "9" "p24-p23" "unknown" "NC_000009.11" "UD_132437334630" "" "https://www.LOVD.nl/KDM4C" "" "1" "17071" "23081" "605469" "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/KDM4C_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-06-27 17:08:05" "00006" "2022-06-27 17:04:29" ## 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}}" "00000361" "KDM4C" "transcript variant 1" "002" "NM_015061.3" "" "NP_055876.2" "" "" "" "-580" "4090" "3171" "6757641" "7175648" "00000" "2012-09-13 12:09:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KDM4C" "05093" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00311927" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311928" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311929" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311930" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311931" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00412331" "" "" "" "7" "" "00006" "{PMID:Katainen 2022:34281993}" "5-generation family, 7 affected (4F, 3M)" "F;M" "" "Finland" "" "0" "" "" "" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050559" "00198" "00311927" "00198" "00311928" "00198" "00311929" "00198" "00311930" "00198" "00311931" "00198" "00412331" "05093" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 05093 ## Count = 4 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000304336" "05093" "00412331" "00006" "Familial, autosomal dominant" "" "see paper; ..., early-onset multi-cancer family" "" "" "" "" "" "" "" "" "" "" "cancer" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000313099" "00311927" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313100" "00311928" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313101" "00311929" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313102" "00311930" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313103" "00311931" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000413603" "00412331" "1" "00006" "00006" "2022-06-27 17:02:56" "" "" "SEQ" "DNA" "" "WES, WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000313099" "KDM4C" "0000313100" "KDM4C" "0000313101" "KDM4C" "0000313102" "KDM4C" "0000313103" "KDM4C" ## 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 = 12 "{{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}}" "0000004701" "0" "50" "9" "6835419" "6835419" "subst" "0" "00037" "KDM4C_000001" "g.6835419C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6835419C>T" "" "VUS" "" "0000012678" "3" "50" "9" "7134076" "7134076" "subst" "0" "00037" "KDM4C_000002" "g.7134076C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7134076C>G" "" "VUS" "" "0000012679" "3" "50" "9" "7134177" "7134177" "subst" "0" "00037" "KDM4C_000003" "g.7134177A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7134177A>G" "" "VUS" "" "0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" "" "0000690570" "0" "50" "9" "6990438" "6990438" "subst" "2.43825E-5" "01943" "KDM4C_000004" "g.6990438C>T" "" "" "" "KDM4C(NM_001353999.1):c.389C>T (p.T130I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690571" "0" "50" "9" "7103702" "7103702" "subst" "0" "01943" "KDM4C_000005" "g.7103702A>T" "" "" "" "KDM4C(NM_001353999.1):c.1131A>T (p.R377S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000694833" "21" "50" "9" "6981052" "6981052" "subst" "3.6625E-5" "00006" "KDM4C_000006" "g.6981052C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in FZD5" "Germline" "" "" "0" "" "" "g.6981052C>T" "" "VUS" "ACMG" "0000694834" "21" "50" "9" "7049097" "7049097" "subst" "4.07624E-6" "00006" "KDM4C_000007" "g.7049097C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in USH2A" "Germline" "" "" "0" "" "" "g.7049097C>T" "" "VUS" "ACMG" "0000694835" "21" "50" "9" "7049097" "7049097" "subst" "4.07624E-6" "00006" "KDM4C_000007" "g.7049097C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in USH2A" "Germline" "" "" "0" "" "" "g.7049097C>T" "" "VUS" "ACMG" "0000694836" "21" "70" "9" "7103755" "7103755" "subst" "0" "00006" "KDM4C_000008" "g.7103755G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in FREM1" "Germline" "" "" "0" "" "" "g.7103755G>A" "" "likely pathogenic" "ACMG" "0000694837" "21" "50" "9" "7128231" "7128231" "subst" "0" "00006" "KDM4C_000009" "g.7128231A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in ANKRD11" "Germline" "" "" "0" "" "" "g.7128231A>G" "" "VUS" "ACMG" "0000871112" "1" "90" "9" "6880032" "6880032" "subst" "0" "00006" "KDM4C_000010" "g.6880032A>G" "" "{PMID:Katainen 2022:34281993}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" ## 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 KDM4C ## Count = 12 "{{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}}" "0000004701" "00000361" "50" "436" "-14088" "436" "-14088" "c.436-14088C>T" "r.(=)" "p.(=)" "" "0000012678" "00000361" "50" "2781" "5840" "2781" "5840" "c.2781+5840C>G" "r.(=)" "p.(=)" "" "0000012679" "00000361" "50" "2781" "5941" "2781" "5941" "c.2781+5941A>G" "r.(=)" "p.(=)" "" "0000079484" "00000361" "00" "-6554117" "0" "1027441" "0" "c.-6554117_*1024270del" "r.0?" "p.0?" "" "0000690570" "00000361" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Thr567Ile)" "" "0000690571" "00000361" "50" "2442" "0" "2442" "0" "c.2442A>T" "r.(?)" "p.(Arg814Ser)" "" "0000694833" "00000361" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000694834" "00000361" "50" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Ala774Val)" "" "0000694835" "00000361" "50" "2321" "0" "2321" "0" "c.2321C>T" "r.(?)" "p.(Ala774Val)" "" "0000694836" "00000361" "70" "2495" "0" "2495" "0" "c.2495G>A" "r.(?)" "p.(Cys832Tyr)" "" "0000694837" "00000361" "50" "2776" "0" "2776" "0" "c.2776A>G" "r.(?)" "p.(Ile926Val)" "" "0000871112" "00000361" "90" "650" "0" "650" "0" "c.650A>G" "r.(?)" "p.(His217Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004701" "0000000210" "0000012678" "0000000210" "0000012679" "0000050504" "0000079484" "0000313099" "0000694833" "0000313100" "0000694834" "0000313101" "0000694835" "0000313102" "0000694836" "0000313103" "0000694837" "0000413603" "0000871112"