### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF599) # 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}}" "ZNF599" "zinc finger protein 599" "19" "q13.13" "unknown" "NC_000019.9" "UD_132464719833" "" "https://www.LOVD.nl/ZNF599" "" "1" "26408" "148103" "0" "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/ZNF599_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-12-11 16:59:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00023566" "ZNF599" "zinc finger protein 599" "001" "NM_001007248.2" "" "NP_001007249.1" "" "" "" "-388" "2727" "1767" "35264134" "35248979" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF599" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00324409" "" "" "" "1" "" "00006" "{PMID:Vissers 2010:21076407}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "(Netherlands)" "" "0" "" "" "" "MRtrio1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00324409" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139 ## Count = 1 "{{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}}" "0000242951" "00139" "00324409" "00006" "Isolated (sporadic)" "4y" "see paper; ..." "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000325599" "00324409" "1" "00006" "00006" "2020-12-11 17:27:18" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000325599" "DYNC1H1" ## 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 = 15 "{{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}}" "0000566896" "0" "50" "19" "35249942" "35249943" "dup" "0" "01804" "ZNF599_000001" "g.35249942_35249943dup" "" "" "" "ZNF599(NM_001007248.2):c.1765_1766insTT (p.(Ter589Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34759037_34759038dup" "" "VUS" "" "0000566897" "0" "50" "19" "35249978" "35249980" "del" "0" "01943" "ZNF599_000002" "g.35249978_35249980del" "" "" "" "ZNF599(NM_001007248.3):c.1728_1730delATC (p.S577del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34759073_34759075del" "" "VUS" "" "0000566899" "0" "50" "19" "35250475" "35250475" "subst" "0" "01943" "ZNF599_000004" "g.35250475T>A" "" "" "" "ZNF599(NM_001007248.3):c.1231A>T (p.I411F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34759570T>A" "" "VUS" "" "0000566901" "0" "50" "19" "35250937" "35250937" "subst" "0" "01804" "ZNF599_000006" "g.35250937A>G" "" "" "" "ZNF599(NM_001007248.2):c.769T>C (p.(Cys257Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34760032A>G" "" "VUS" "" "0000566902" "0" "30" "19" "35251241" "35251241" "subst" "0.000170583" "01804" "ZNF599_000007" "g.35251241A>T" "" "" "" "ZNF599(NM_001007248.2):c.465T>A (p.(Asp155Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34760336A>T" "" "likely benign" "" "0000708722" "0" "50" "19" "35251174" "35251174" "subst" "0" "00006" "ZNF599_000008" "g.35251174G>A" "" "{PMID:Vissers 2010:21076407}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000983371" "0" "50" "19" "35250693" "35250694" "dup" "0" "01804" "ZNF599_000009" "g.35250693_35250694dup" "" "" "" "ZNF599(NM_001007248.3):c.1014_1015dup (p.(Tyr339Serfs*22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983372" "0" "50" "19" "35250976" "35250976" "subst" "0.000117833" "01804" "ZNF599_000010" "g.35250976G>A" "" "" "" "ZNF599(NM_001007248.3):c.730C>T (p.(Arg244Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983373" "0" "30" "19" "35251144" "35251145" "del" "0" "01804" "ZNF599_000011" "g.35251144_35251145del" "" "" "" "ZNF599(NM_001007248.3):c.563_564del (p.(Lys188Argfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004615" "0" "50" "19" "35250036" "35250036" "subst" "3.24921E-5" "01804" "ZNF599_000012" "g.35250036T>C" "" "" "" "ZNF599(NM_001007248.2):c.1670A>G (p.(His557Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004616" "0" "50" "19" "35250149" "35250149" "del" "8.12645E-6" "01804" "ZNF599_000013" "g.35250149del" "" "" "" "ZNF599(NM_001007248.2):c.1557delT (p.(Ala520fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004617" "0" "50" "19" "35250553" "35250553" "subst" "0.000259949" "01804" "ZNF599_000014" "g.35250553G>C" "" "" "" "ZNF599(NM_001007248.2):c.1153C>G (p.(His385Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004618" "0" "30" "19" "35250690" "35250690" "subst" "1.62668E-5" "01804" "ZNF599_000015" "g.35250690T>C" "" "" "" "ZNF599(NM_001007248.2):c.1016A>G (p.(Tyr339Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042858" "0" "30" "19" "35250448" "35250448" "subst" "0.00480425" "01804" "ZNF599_000016" "g.35250448C>A" "" "" "" "ZNF599(NM_001007248.3):c.1258G>T (p.(Glu420Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042859" "0" "50" "19" "35250472" "35250472" "subst" "6.90961E-5" "01804" "ZNF599_000017" "g.35250472G>A" "" "" "" "ZNF599(NM_001007248.3):c.1234C>T (p.(Arg412*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 ZNF599 ## Count = 15 "{{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}}" "0000566896" "00023566" "50" "1764" "0" "1765" "0" "c.1764_1765dup" "r.(?)" "p.(Ter589PheextTer14)" "" "0000566897" "00023566" "50" "1728" "0" "1730" "0" "c.1728_1730del" "r.(?)" "p.(Ser577del)" "" "0000566899" "00023566" "50" "1231" "0" "1231" "0" "c.1231A>T" "r.(?)" "p.(Ile411Phe)" "" "0000566901" "00023566" "50" "769" "0" "769" "0" "c.769T>C" "r.(?)" "p.(Cys257Arg)" "" "0000566902" "00023566" "30" "465" "0" "465" "0" "c.465T>A" "r.(?)" "p.(Asp155Glu)" "" "0000708722" "00023566" "50" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Leu178Phe)" "" "0000983371" "00023566" "50" "1014" "0" "1015" "0" "c.1014_1015dup" "r.(?)" "p.(Tyr339Serfs*22)" "" "0000983372" "00023566" "50" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0000983373" "00023566" "30" "563" "0" "564" "0" "c.563_564del" "r.(?)" "p.(Lys188Argfs*5)" "" "0001004615" "00023566" "50" "1670" "0" "1670" "0" "c.1670A>G" "r.(?)" "p.(His557Arg)" "" "0001004616" "00023566" "50" "1557" "0" "1557" "0" "c.1557del" "r.(?)" "p.(Ala520Glnfs*31)" "" "0001004617" "00023566" "50" "1153" "0" "1153" "0" "c.1153C>G" "r.(?)" "p.(His385Asp)" "" "0001004618" "00023566" "30" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(Tyr339Cys)" "" "0001042858" "00023566" "30" "1258" "0" "1258" "0" "c.1258G>T" "r.(?)" "p.(Glu420*)" "" "0001042859" "00023566" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000325599" "0000708722"