### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF536) # 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}}" "ZNF536" "zinc finger protein 536" "19" "q13.11" "unknown" "NC_000019.9" "UD_132378764879" "" "https://www.LOVD.nl/ZNF536" "" "1" "29025" "9745" "618037" "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/ZNF536_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-24 21:08:23" "00006" "2026-09-25 09:18:29" ## 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}}" "00023507" "ZNF536" "zinc finger protein 536" "001" "NM_014717.1" "" "NP_055532.1" "" "" "" "-138" "4797" "3903" "30863328" "31048965" "" "0000-00-00 00:00:00" "" "" ## 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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF536" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00050679" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00438673" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0627" "00485147" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat1" "00485148" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00485149" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat3" "00485150" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat4" "00485151" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, mildly affected carrier mother" "M" "" "" "" "0" "" "" "" "Pat5" "00485152" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, mildly affected carrier mother" "M" "" "" "" "0" "" "" "" "Pat6" "00485153" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00485154" "" "" "" "2" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, mildly affected carrier father" "F" "" "" "" "0" "" "" "" "Pat8" "00485155" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat9" "00485156" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Pat10" "00485157" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00485158" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Pat12" "00485159" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "patient" "M" "" "" "" "0" "" "" "" "Pat13" "00485160" "" "" "" "2" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 2 affected brothers, mosaic mother" "M" "" "" "" "0" "" "" "" "FamPat14a" "00485161" "" "" "00485160" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "brother" "M" "" "" "" "0" "" "" "" "FamPat14b" "00485162" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, mosaic father" "M" "" "Israel" "" "0" "" "" "" "Pat15" "00485163" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat16" "00485164" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier father" "F" "" "" "" "0" "" "" "" "Pat17" "00485165" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat18" "00485166" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "France" "" "0" "" "" "" "Pat19" "00485167" "" "" "" "1" "" "00006" "{PMID:Hiatt 2026:42697193}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00050679" "00198" "00438673" "06906" "00485147" "05611" "00485148" "05611" "00485149" "05611" "00485150" "05611" "00485151" "05611" "00485152" "05611" "00485153" "05611" "00485154" "05611" "00485155" "05611" "00485156" "05611" "00485157" "05611" "00485158" "05611" "00485159" "05611" "00485160" "05611" "00485161" "05611" "00485162" "05611" "00485163" "05611" "00485164" "05611" "00485165" "05611" "00485166" "05611" "00485167" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06906 ## Count = 23 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037291" "00198" "00050679" "00006" "Isolated (sporadic)" "" "broad lateral eyebrow, deeply set eye, upslanted palpebral fissure, epicanthus, wide nose, downturned corners of mouth, thick lower lip vermilion, abnormality of tear glands or tear production, drooling, high palate, hyperpigmentation of the skin, inverted nipples, increased body weight, short tapering fingers, impaired pain sensation, global developmental delay" "" "" "" "" "" "" "" "" "" "" "0000328576" "06906" "00438673" "00006" "Isolated (sporadic)" "20y" "see paper; ..., motor delay, mild intellectual disability; 2y6m-seizures; EEG generalized spike-wave and poly-spike and wave; MRI brain normal; tremor, dysarthria, seizures controlled on VPA, LTG, and CZP" "" "" "" "" "" "" "" "MRD55" "developmental and epileptic encephalopathy" "" "0000367869" "05611" "00485147" "00006" "Isolated (sporadic)" "12y" "see paper; ..., behavioral conserns; autism spectrum disorder; no ADHD/hyperactivity/restlessness; agressive; anxiety; no hyperphagia; no developmental delay; no speech delay; no motor delay; intellectual disability; no epilepsy; sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367870" "05611" "00485148" "00006" "Isolated (sporadic)" "7y" "see paper; ..., behavioral conserns; autism spectrum disorder; no ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; no epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367871" "05611" "00485149" "00006" "Isolated (sporadic)" "27y" "see paper; ..., behavioral conserns; autism spectrum disorder; no ADHD/hyperactivity/restlessness; agressive; anxiety; hyperphagia; developmental delay; speech delay; no motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367872" "05611" "00485150" "00006" "Isolated (sporadic)" "3y" "see paper; ..., behavioral conserns; autism spectrum disorder; no ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; no motor delay; motor delay; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367873" "05611" "00485151" "00006" "Familial, autosomal dominant" "7y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; agressive; no anxiety; hyperphagia; developmental delay; no speech delay; motor delay; intellectual disability; no epilepsy; no sleep disorder; mother learning difficulties, speechtherapy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367874" "05611" "00485152" "00006" "Familial, autosomal dominant" "10y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; sleep disorder; mother febrile epilepsy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367875" "05611" "00485153" "00006" "Isolated (sporadic)" "17y" "see paper; ..., behavioral conserns; no autism spectrum disorder; no ADHD/hyperactivity/restlessness; agressive; no anxiety; hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367876" "05611" "00485154" "00006" "Familial, autosomal dominant" "13y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; sleep disorder; father epilepsy" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367877" "05611" "00485155" "00006" "Isolated (sporadic)" "17y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367878" "05611" "00485156" "00006" "Isolated (sporadic)" "19y" "see paper; ..., behavioral conserns; no autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367879" "05611" "00485157" "00006" "Isolated (sporadic)" "21y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; no epilepsy; sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367880" "05611" "00485158" "00006" "Isolated (sporadic)" "9y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; agressive; anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; no epilepsy; sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367881" "05611" "00485159" "00006" "Unknown" "20y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; agressive; no anxiety; hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; no epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367882" "05611" "00485160" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; anxiety; no hyperphagia; developmental delay; speech delay; no motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367883" "05611" "00485161" "00006" "Familial, autosomal dominant" "22y" "see paper; ..., behavioral conserns; autism spectrum disorder; no ADHD/hyperactivity/restlessness; agressive; no anxiety; no hyperphagia; developmental delay; speech delay; no motor delay; intellectual disability; no epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367884" "05611" "00485162" "00006" "Familial, autosomal dominant" "10y" "see paper; ..., behavioral conserns; no autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367885" "05611" "00485163" "00006" "Unknown" "6y" "see paper; ..., developmental delay; speech delay; motor delay; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367886" "05611" "00485164" "00006" "Unknown" "1.8y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; no anxiety; no hyperphagia; developmental delay; speech delay; no motor delay; no epilepsy; sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367887" "05611" "00485165" "00006" "Isolated (sporadic)" "15y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; agressive; no anxiety; hyperphagia; developmental delay; speech delay; no motor delay; intellectual disability; epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367888" "05611" "00485166" "00006" "Isolated (sporadic)" "26y" "see paper; ..., behavioral conserns; autism spectrum disorder; ADHD/hyperactivity/restlessness; agressive; no anxiety; no hyperphagia; developmental delay; speech delay; motor delay; intellectual disability; no epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000367889" "05611" "00485167" "00006" "Isolated (sporadic)" "8y" "see paper; ..., behavioral conserns; no autism spectrum disorder; ADHD/hyperactivity/restlessness; not agressive; anxiety; no hyperphagia; developmental delay; speech delay; motor delay; motor delay; no epilepsy; no sleep disorder" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050624" "00050679" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000440155" "00438673" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000486804" "00485147" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486805" "00485148" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486806" "00485149" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486807" "00485150" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486808" "00485151" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486809" "00485152" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486810" "00485153" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486811" "00485154" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486812" "00485155" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486813" "00485156" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486814" "00485157" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486815" "00485158" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486816" "00485159" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486817" "00485160" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486818" "00485161" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486819" "00485162" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486820" "00485163" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486821" "00485164" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486822" "00485165" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486823" "00485166" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000486824" "00485167" "1" "00006" "00006" "2026-09-25 09:18:27" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 32 "{{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}}" "0000079604" "0" "90" "19" "30379880" "32843746" "dup" "0" "00006" "TSHZ3_000001" "g.30379880_32843746dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000256189" "0" "50" "19" "30936442" "30936442" "subst" "0" "01943" "ZNF536_000002" "g.30936442A>G" "" "" "" "ZNF536(NM_014717.3):c.1973A>G (p.K658R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30445535A>G" "" "VUS" "" "0000326368" "0" "50" "19" "30935448" "30935448" "subst" "0" "01804" "ZNF536_000001" "g.30935448G>T" "" "" "" "ZNF536(NM_014717.1):c.979G>T (p.(Glu327Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30444541G>T" "" "VUS" "" "0000566807" "0" "30" "19" "30936381" "30936381" "subst" "0" "01943" "ZNF536_000003" "g.30936381C>A" "" "" "" "ZNF536(NM_014717.3):c.1912C>A (p.R638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30445474C>A" "" "likely benign" "" "0000566808" "0" "50" "19" "30936560" "30936560" "subst" "4.57495E-5" "01943" "ZNF536_000004" "g.30936560G>C" "" "" "" "ZNF536(NM_014717.1):c.2091G>C (p.(Glu697Asp)), ZNF536(NM_014717.3):c.2091G>C (p.E697D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30445653G>C" "" "VUS" "" "0000566809" "0" "50" "19" "30936560" "30936560" "subst" "4.57495E-5" "01804" "ZNF536_000004" "g.30936560G>C" "" "" "" "ZNF536(NM_014717.1):c.2091G>C (p.(Glu697Asp)), ZNF536(NM_014717.3):c.2091G>C (p.E697D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30445653G>C" "" "VUS" "" "0000566810" "0" "30" "19" "31039257" "31039257" "subst" "0.00110052" "01804" "ZNF536_000005" "g.31039257G>A" "" "" "" "ZNF536(NM_014717.1):c.2731G>A (p.(Gly911Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30548350G>A" "" "likely benign" "" "0000692735" "0" "50" "19" "30936330" "30936330" "subst" "0" "01943" "ZNF536_000006" "g.30936330C>T" "" "" "" "ZNF536(NM_001352260.1):c.1861C>T (p.Q621*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936449" "0" "10" "19" "31039670" "31039670" "subst" "8.13517E-6" "00006" "ZNF536_000007" "g.31039670G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_014717:c.G3144A (A1048A)" "" "De novo" "" "" "0" "" "" "" "" "benign" "" "0000983352" "0" "30" "19" "30934640" "30934640" "subst" "2.86142E-5" "01804" "ZNF536_000008" "g.30934640G>A" "" "" "" "ZNF536(NM_014717.3):c.171G>A (p.(Glu57=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983353" "0" "30" "19" "31039490" "31039490" "subst" "0.00377831" "01804" "ZNF536_000009" "g.31039490G>A" "" "" "" "ZNF536(NM_014717.3):c.2964G>A (p.(Pro988=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001089925" "0" "90" "19" "30934971" "30934971" "dup" "0" "00006" "chr19_013021" "g.30934971dup" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30444064dup" "" "pathogenic (dominant)" "" "0001089926" "0" "90" "19" "30934974" "30934974" "subst" "0" "00006" "chr19_013022" "g.30934974C>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30444067C>T" "" "pathogenic (dominant)" "" "0001089927" "0" "90" "19" "30935088" "30935088" "del" "0" "00006" "chr19_013023" "g.30935088del" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30444181del" "" "pathogenic (dominant)" "" "0001089928" "0" "90" "19" "30935189" "30935201" "del" "0" "00006" "chr19_013024" "g.30935189_30935201del" "" "{PMID:Hiatt 2026:42697193}" "" "720_732del13" "" "De novo" "" "" "0" "" "" "g.30444282_30444294del" "" "pathogenic (dominant)" "" "0001089929" "21" "90" "19" "30935484" "30935484" "subst" "0" "00006" "chr19_013025" "g.30935484G>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "variant de novo in mother" "Germline" "" "" "0" "" "" "g.30444577G>T" "" "pathogenic (dominant)" "" "0001089930" "21" "90" "19" "30935856" "30935856" "subst" "0" "00006" "chr19_013026" "g.30935856A>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "Germline" "" "" "0" "" "" "g.30444949A>T" "" "pathogenic (dominant)" "" "0001089931" "0" "90" "19" "30936065" "30936077" "del" "0" "00006" "chr19_013027" "g.30936065_30936077del" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30445158_30445170del" "" "pathogenic (dominant)" "" "0001089932" "11" "90" "19" "30936086" "30936096" "del" "0" "00006" "chr19_013028" "g.30936086_30936096del" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "Germline" "" "" "0" "" "" "g.30445179_30445189del" "" "pathogenic (dominant)" "" "0001089933" "0" "90" "19" "30936292" "30936292" "dup" "0" "00006" "chr19_013029" "g.30936292dup" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30445385dup" "" "pathogenic (dominant)" "" "0001089934" "0" "90" "19" "30936292" "30936292" "dup" "0" "00006" "chr19_013029" "g.30936292dup" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30445385dup" "" "pathogenic (dominant)" "" "0001089935" "0" "90" "19" "30936330" "30936330" "subst" "0" "00006" "ZNF536_000006" "g.30936330C>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30445423C>T" "" "pathogenic (dominant)" "" "0001089936" "0" "90" "19" "30936330" "30936330" "subst" "0" "00006" "ZNF536_000006" "g.30936330C>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30445423C>T" "" "pathogenic (dominant)" "" "0001089937" "0" "90" "19" "30936475" "30936475" "del" "0" "00006" "chr19_013030" "g.30936475del" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30445568del" "" "pathogenic (dominant)" "" "0001089938" "21" "90" "19" "30936502" "30936502" "dup" "0" "00006" "chr19_013031" "g.30936502dup" "" "{PMID:Hiatt 2026:42697193}" "" "" "maternal mosaicism (0.04)" "Germline" "" "" "0" "" "" "g.30445595dup" "" "pathogenic (dominant)" "" "0001089939" "21" "90" "19" "30936502" "30936502" "dup" "0" "00006" "chr19_013031" "g.30936502dup" "" "{PMID:Hiatt 2026:42697193}" "" "" "maternal mosaicism (0.04)" "Germline" "" "" "0" "" "" "g.30445595dup" "" "pathogenic (dominant)" "" "0001089940" "11" "90" "19" "30936585" "30936585" "subst" "0" "00006" "chr19_013032" "g.30936585C>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "paternal mosaicism (0.09)" "Germline" "" "" "0" "" "" "g.30445678C>T" "" "pathogenic (dominant)" "" "0001089941" "0" "90" "19" "30928351" "30935204" "del" "0" "00006" "chr19_013033" "g.30928351_30935204del" "" "{PMID:Hiatt 2026:42697193}" "" "GRCh38:chr19:27,520,089_30,643,565x1" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30437444_30444297del" "" "pathogenic (dominant)" "" "0001089942" "0" "90" "19" "28010996" "31134472" "del" "0" "00006" "chr19_013034" "g.(?_28010996)_(31134472_?)del" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_27520089)_(30643565_?)del" "" "pathogenic (dominant)" "" "0001089943" "0" "90" "19" "30934911" "30934911" "subst" "0" "00006" "chr19_013035" "g.30934911C>T" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30444004C>T" "" "pathogenic (dominant)" "" "0001089944" "0" "90" "19" "30935097" "30935097" "subst" "0" "00006" "chr19_013036" "g.30935097G>A" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30444190G>A" "" "pathogenic (dominant)" "" "0001089945" "0" "90" "19" "31040318" "31040318" "subst" "0" "00006" "chr19_013037" "g.31040318G>A" "" "{PMID:Hiatt 2026:42697193}" "" "" "" "De novo" "" "" "0" "" "" "g.30549411G>A" "" "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 ZNF536 ## Count = 32 "{{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}}" "0000079604" "00023507" "00" "-483586" "0" "1799578" "0" "c.-483586_*1795675dup" "r.?" "p.?" "" "0000256189" "00023507" "50" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Lys658Arg)" "" "0000326368" "00023507" "50" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Glu327Ter)" "" "0000566807" "00023507" "30" "1912" "0" "1912" "0" "c.1912C>A" "r.(?)" "p.(Arg638=)" "" "0000566808" "00023507" "50" "2091" "0" "2091" "0" "c.2091G>C" "r.(?)" "p.(Glu697Asp)" "" "0000566809" "00023507" "50" "2091" "0" "2091" "0" "c.2091G>C" "r.(?)" "p.(Glu697Asp)" "" "0000566810" "00023507" "30" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Gly911Ser)" "" "0000692735" "00023507" "50" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Gln621Ter)" "" "0000936449" "00023507" "10" "3144" "0" "3144" "0" "c.3144G>A" "r.(=)" "p.(=)" "" "0000983352" "00023507" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(=)" "" "0000983353" "00023507" "30" "2964" "0" "2964" "0" "c.2964G>A" "r.(?)" "p.(=)" "" "0001089925" "00023507" "90" "502" "0" "502" "0" "c.502dup" "r.(?)" "p.(Ala168GlyfsTer78)" "" "0001089926" "00023507" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169Ter)" "" "0001089927" "00023507" "90" "619" "0" "619" "0" "c.619del" "r.(?)" "p.(Ile207SerfsTer7)" "" "0001089928" "00023507" "90" "720" "0" "732" "0" "c.720_732del" "r.(?)" "p.(Ala241ThrfsTer148)" "" "0001089929" "00023507" "90" "1015" "0" "1015" "0" "c.1015G>T" "r.(?)" "p.(Glu339Ter)" "" "0001089930" "00023507" "90" "1387" "0" "1387" "0" "c.1387A>T" "r.(?)" "p.(Lys463Ter)" "" "0001089931" "00023507" "90" "1596" "0" "1608" "0" "c.1596_1608del" "r.(?)" "p.(Met533SerfsTer32)" "" "0001089932" "00023507" "90" "1617" "0" "1627" "0" "c.1617_1627del" "r.(?)" "p.(Lys540AlafsTer17)" "" "0001089933" "00023507" "90" "1823" "0" "1823" "0" "c.1823dup" "r.(?)" "p.(Leu608PhefsTer12)" "" "0001089934" "00023507" "90" "1823" "0" "1823" "0" "c.1823dup" "r.(?)" "p.(Leu608PhefsTer12)" "" "0001089935" "00023507" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Gln621Ter)" "" "0001089936" "00023507" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Gln621Ter)" "" "0001089937" "00023507" "90" "2006" "0" "2006" "0" "c.2006del" "r.(?)" "p.(Asp669ValfsTer15)" "" "0001089938" "00023507" "90" "2033" "0" "2033" "0" "c.2033dup" "r.(?)" "p.(Glu679GlyfsTer15)" "" "0001089939" "00023507" "90" "2033" "0" "2033" "0" "c.2033dup" "r.(?)" "p.(Glu679GlyfsTer15)" "" "0001089940" "00023507" "90" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(Gln706Ter)" "" "0001089941" "00023507" "90" "-2" "-6117" "735" "0" "c.-2-6117_735del" "r.(?)" "p.0?" "" "0001089942" "00023507" "90" "" "0" "" "0" "c.(?_-2852470)_(*86401_?)del" "r.0" "p.0" "" "0001089943" "00023507" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(His148Tyr)" "" "0001089944" "00023507" "90" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Asp210Asn)" "" "0001089945" "00023507" "90" "3792" "0" "3792" "0" "c.3792G>A" "r.(?)" "p.(Met1264Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000050624" "0000079604" "0000440155" "0000936449" "0000486804" "0001089925" "0000486805" "0001089926" "0000486806" "0001089927" "0000486807" "0001089928" "0000486808" "0001089929" "0000486809" "0001089930" "0000486810" "0001089931" "0000486811" "0001089932" "0000486812" "0001089933" "0000486813" "0001089934" "0000486814" "0001089935" "0000486815" "0001089936" "0000486816" "0001089937" "0000486817" "0001089938" "0000486818" "0001089939" "0000486819" "0001089940" "0000486820" "0001089941" "0000486821" "0001089942" "0000486822" "0001089943" "0000486823" "0001089944" "0000486824" "0001089945"