### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF292) # 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}}" "ZNF292" "zinc finger protein 292" "6" "q15" "unknown" "NC_000006.11" "UD_132465368779" "" "https://www.LOVD.nl/ZNF292" "" "1" "18410" "23036" "616213" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ZNF292_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-03-06 14:06:22" "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}}" "00023370" "ZNF292" "zinc finger protein 292" "001" "NM_015021.1" "" "NP_055836.1" "" "" "" "-41" "10059" "8172" "87865269" "87973406" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "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" "07155" "MRD64" "intellectual developmental disorder, autosomal dominant, type 64" "AD" "619188" "" "" "" "00006" "2025-03-06 14:07:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF292" "00139" "ZNF292" "07155" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00111417" "" "" "" "1" "" "00729" "" "" "M" "no" "" "" "0" "" "" "" "S_104" "00183050" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio22" "00289306" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00401296" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "035P" "00464363" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "321512" "00465222" "" "" "" "2" "" "00006" "{PMID:Desgrouas 2025:40011009}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "France" "00y00m01d" "0" "" "" "" "FamPat1" "00465223" "" "" "00465222" "1" "" "00006" "{PMID:Desgrouas 2025:40011009}" "sib" "F" "yes" "France" "00y00m00d" "0" "" "" "" "FamPat2" "00466289" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00111417" "00139" "00183050" "00139" "00289306" "00198" "00401296" "00139" "00464363" "00139" "00465222" "00198" "00465223" "00198" "00466289" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 07155 ## Count = 7 "{{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}}" "0000087503" "00139" "00111417" "00729" "Isolated (sporadic)" "" "Developmental delay, constipation, feeding difficulties, hypothyreosis, short stature, facial dysmorphism; intellectual disability (HP:0001249); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000143803" "00139" "00183050" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000222937" "00198" "00289306" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Ventricular septal defect (HP:0001629); Patent ductus arteriosus (HP:0001643); Situs inversus totalis (HP:0001696); Short stature (HP:0004322); Pulmonary artery stenosis (HP:0004415)" "" "" "" "" "" "" "" "" "" "" "" "0000350386" "00139" "00464363" "01164" "Unknown" "02y" "neurodevelopmental delay, motor delay, short stature" "" "" "" "" "" "" "" "" "MRD64" "intellectual disability" "" "0000350758" "00198" "00465222" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy" "" "" "" "" "" "" "" "" "" "fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia" "" "0000350759" "00198" "00465223" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells" "" "" "" "" "" "" "" "" "" "fetal anomalies" "" "0000351657" "05611" "00466289" "03544" "Isolated (sporadic)" "" "HP:0001250, HP:0001263, HP:0004322, HP:0001508, HP:0000545, HP:0002719, HP:0001249" "" "" "" "" "" "" "" "" "MRD64" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000111882" "00111417" "1" "00729" "00729" "2017-08-03 10:32:41" "" "" "SEQ-NG" "DNA" "" "" "0000184010" "00183050" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290476" "00289306" "1" "01807" "01807" "2020-03-02 12:46:27" "" "" "SEQ" "DNA" "" "" "0000402540" "00401296" "1" "02494" "02494" "2022-01-31 10:12:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000465993" "00464363" "1" "01164" "01164" "2025-03-06 11:24:24" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466872" "00465222" "1" "00006" "00006" "2025-04-17 19:36:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466873" "00465223" "1" "00006" "00006" "2025-04-17 19:55:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467945" "00466289" "1" "03544" "03544" "2025-08-14 12:45:50" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000111882" "ZNF292" "0000465993" "ZNF292" ## 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 = 120 "{{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}}" "0000179039" "0" "90" "6" "87966413" "87966416" "del" "0" "00729" "ZNF292_000001" "g.87966413_87966416del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.87256695_87256698del" "" "pathogenic" "ACMG" "0000313152" "0" "50" "6" "87968005" "87968005" "subst" "0.000200343" "02325" "ZNF292_000002" "g.87968005C>T" "" "" "" "ZNF292(NM_015021.3):c.4658C>T (p.T1553M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87258287C>T" "" "VUS" "" "0000313153" "0" "50" "6" "87968280" "87968280" "subst" "0" "02325" "ZNF292_000003" "g.87968280C>T" "" "" "" "ZNF292(NM_015021.3):c.4933C>T (p.Q1645*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87258562C>T" "" "VUS" "" "0000320235" "0" "10" "6" "87970650" "87970650" "subst" "0.0081336" "01943" "ZNF292_000004" "g.87970650G>A" "" "" "" "ZNF292(NM_015021.2):c.7303G>A (p.V2435I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87260932G>A" "" "benign" "" "0000344721" "0" "50" "6" "87971399" "87971399" "subst" "0" "02327" "ZNF292_000006" "g.87971399A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87261681A>C" "" "VUS" "" "0000407981" "0" "50" "6" "87966175" "87966176" "del" "0" "00006" "ZNF292_000007" "g.87966175_87966176del" "" "{PMID:de Ligt 2012:23033978}" "" "NM_015021.1:c.2828_2829del (Leu943Glnfs*5)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.87256457_87256458del" "" "VUS" "" "0000529959" "0" "30" "6" "87943215" "87943215" "subst" "1.63784E-5" "01943" "ZNF292_000008" "g.87943215A>G" "" "" "" "ZNF292(NM_015021.2):c.711A>G (p.T237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87233497A>G" "" "likely benign" "" "0000529960" "0" "50" "6" "87965727" "87965727" "del" "0" "02325" "ZNF292_000009" "g.87965727del" "" "" "" "ZNF292(NM_001351444.2):c.1960delT (p.Y654Ifs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256009del" "" "VUS" "" "0000529961" "0" "50" "6" "87966130" "87966132" "del" "0" "01943" "ZNF292_000010" "g.87966130_87966132del" "" "" "" "ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256412_87256414del" "" "VUS" "" "0000529963" "0" "50" "6" "87966562" "87966562" "subst" "0" "02325" "ZNF292_000012" "g.87966562C>T" "" "" "" "ZNF292(NM_001351444.2):c.2795C>T (p.A932V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256844C>T" "" "VUS" "" "0000529964" "0" "50" "6" "87966747" "87966747" "subst" "7.34095E-5" "02325" "ZNF292_000013" "g.87966747C>T" "" "" "" "ZNF292(NM_001351444.2):c.2980C>T (p.R994C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257029C>T" "" "VUS" "" "0000529966" "0" "30" "6" "87966773" "87966773" "subst" "0.0015468" "01943" "ZNF292_000014" "g.87966773T>A" "" "" "" "ZNF292(NM_015021.2):c.3426T>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257055T>A" "" "likely benign" "" "0000529967" "0" "30" "6" "87966871" "87966871" "subst" "2.84872E-5" "01943" "ZNF292_000015" "g.87966871A>G" "" "" "" "ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87257153A>G" "" "likely benign" "" "0000529968" "0" "30" "6" "87969170" "87969170" "subst" "0.000559916" "01943" "ZNF292_000016" "g.87969170A>G" "" "" "" "ZNF292(NM_015021.2):c.5823A>G (p.Q1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259452A>G" "" "likely benign" "" "0000529969" "0" "30" "6" "87969411" "87969411" "subst" "0.00141757" "01943" "ZNF292_000017" "g.87969411G>T" "" "" "" "ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259693G>T" "" "likely benign" "" "0000529970" "0" "50" "6" "87970156" "87970156" "subst" "1.62845E-5" "01943" "ZNF292_000018" "g.87970156G>A" "" "" "" "ZNF292(NM_015021.2):c.6809G>A (p.R2270Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87260438G>A" "" "VUS" "" "0000529971" "0" "50" "6" "87970884" "87970886" "del" "0" "01943" "ZNF292_000019" "g.87970884_87970886del" "" "" "" "ZNF292(NM_015021.2):c.7537_7539delGAT (p.D2513del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87261166_87261168del" "" "VUS" "" "0000610543" "0" "30" "6" "87953322" "87953322" "subst" "0.00100557" "01804" "ZNF292_000020" "g.87953322T>G" "" "" "" "ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87243604T>G" "" "likely benign" "" "0000610544" "0" "50" "6" "87966550" "87966550" "subst" "0" "02327" "ZNF292_000021" "g.87966550T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256832T>G" "" "VUS" "" "0000610545" "0" "70" "6" "87966666" "87966666" "subst" "0" "02327" "ZNF292_000022" "g.87966666C>T" "" "" "" "ZNF292(NM_015021.3):c.3319C>T (p.R1107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256948C>T" "" "likely pathogenic" "" "0000610546" "0" "50" "6" "87966666" "87966666" "subst" "0" "02329" "ZNF292_000022" "g.87966666C>T" "" "" "" "ZNF292(NM_015021.3):c.3319C>T (p.R1107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87256948C>T" "" "VUS" "" "0000647148" "0" "50" "6" "87971435" "87971435" "del" "0" "01807" "ZNF292_000024" "g.87971435del" "" "" "" "8088delA" "" "Unknown" "" "" "0" "" "" "g.87261717del" "" "VUS" "" "0000655672" "0" "50" "6" "87965464" "87965464" "subst" "0" "02327" "ZNF292_000025" "g.87965464A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87255746A>T" "" "VUS" "" "0000655673" "0" "70" "6" "87969293" "87969297" "del" "0" "02327" "ZNF292_000026" "g.87969293_87969297del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87259575_87259579del" "" "likely pathogenic" "" "0000677900" "0" "50" "6" "87970428" "87970428" "subst" "1.22984E-5" "01943" "ZNF292_000027" "g.87970428C>T" "" "" "" "ZNF292(NM_001351444.1):c.6661C>T (p.R2221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689817" "0" "50" "6" "87966130" "87966132" "del" "0" "02325" "ZNF292_000010" "g.87966130_87966132del" "" "" "" "ZNF292(NM_015021.2):c.2783_2785delCTC (p.P928del), ZNF292(NM_015021.3):c.2783_2785delCTC (p.P928del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689818" "0" "30" "6" "87968258" "87968258" "subst" "0.00102757" "01943" "ZNF292_000028" "g.87968258A>G" "" "" "" "ZNF292(NM_001351444.1):c.4491A>G (p.P1497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689819" "0" "30" "6" "87968683" "87968683" "subst" "0" "01943" "ZNF292_000029" "g.87968683G>A" "" "" "" "ZNF292(NM_001351444.1):c.4916G>A (p.G1639D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708294" "0" "90" "6" "87968186" "87968187" "del" "0" "03779" "ZNF292_000030" "g.87968186_87968187del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000721130" "0" "50" "6" "87966307" "87966307" "del" "0" "02329" "ZNF292_000011" "g.87966307del" "" "" "" "ZNF292(NM_015021.3):c.2960delA (p.Q987Rfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721131" "0" "50" "6" "87968677" "87968677" "subst" "0.000564588" "01943" "ZNF292_000031" "g.87968677C>T" "" "" "" "ZNF292(NM_001351444.1):c.4910C>T (p.S1637F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721132" "0" "50" "6" "87969261" "87969261" "subst" "0" "02329" "ZNF292_000032" "g.87969261C>T" "" "" "" "ZNF292(NM_001351444.2):c.5494C>T (p.H1832Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721133" "0" "30" "6" "87969321" "87969321" "subst" "0.000750822" "01943" "ZNF292_000033" "g.87969321T>C" "" "" "" "ZNF292(NM_001351444.1):c.5554T>C (p.S1852P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721134" "0" "90" "6" "87969507" "87969508" "del" "0" "02329" "ZNF292_000034" "g.87969507_87969508del" "" "" "" "ZNF292(NM_001351444.2):c.5740_5741delGA (p.E1914Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721135" "0" "50" "6" "87971217" "87971217" "subst" "0" "02325" "ZNF292_000035" "g.87971217C>T" "" "" "" "ZNF292(NM_015021.3):c.7870C>T (p.H2624Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802754" "0" "50" "6" "87965535" "87965535" "subst" "0" "02325" "ZNF292_000036" "g.87965535C>T" "" "" "" "ZNF292(NM_015021.3):c.2188C>T (p.H730Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802755" "0" "30" "6" "87966300" "87966300" "subst" "0" "01943" "ZNF292_000037" "g.87966300G>C" "" "" "" "ZNF292(NM_001351444.1):c.2533G>C (p.G845R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802756" "0" "70" "6" "87966336" "87966336" "del" "0" "02329" "ZNF292_000038" "g.87966336del" "" "" "" "ZNF292(NM_001351444.2):c.2569delG (p.D857Mfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802757" "0" "30" "6" "87968780" "87968780" "subst" "0.00012274" "01943" "ZNF292_000039" "g.87968780G>A" "" "" "" "ZNF292(NM_001351444.1):c.5013G>A (p.P1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000836769" "0" "70" "6" "87969507" "87969508" "del" "0" "02494" "ZNF292_000034" "g.87969507_87969508del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.87259789_87259790del" "" "likely pathogenic (dominant)" "" "0000860538" "0" "30" "6" "87966037" "87966037" "subst" "0.00307904" "01804" "ZNF292_000040" "g.87966037C>T" "" "" "" "ZNF292(NM_015021.1):c.2690C>T (p.(Ser897Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887493" "0" "90" "6" "87965143" "87965144" "del" "0" "02325" "ZNF292_000041" "g.87965143_87965144del" "" "" "" "ZNF292(NM_015021.3):c.1796_1797delGA (p.R599Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887494" "0" "30" "6" "87967405" "87967405" "subst" "5.37079E-5" "02325" "ZNF292_000042" "g.87967405G>A" "" "" "" "ZNF292(NM_015021.3):c.4058G>A (p.G1353E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887495" "0" "50" "6" "87970968" "87970969" "del" "0" "02325" "ZNF292_000043" "g.87970968_87970969del" "" "" "" "ZNF292(NM_015021.3):c.7621_7622delCA (p.Q2541Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912596" "0" "70" "6" "87964905" "87964908" "del" "0" "02329" "ZNF292_000044" "g.87964905_87964908del" "" "" "" "ZNF292(NM_001351444.2):c.1138_1141delGAGA (p.E380*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912597" "0" "90" "6" "87966181" "87966182" "del" "0" "02329" "ZNF292_000045" "g.87966181_87966182del" "" "" "" "ZNF292(NM_001351444.2):c.2414_2415delAG (p.Q805Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912598" "0" "70" "6" "87969393" "87969393" "subst" "0" "02327" "ZNF292_000046" "g.87969393A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912599" "0" "90" "6" "87969918" "87969918" "subst" "0" "02327" "ZNF292_000047" "g.87969918C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924586" "0" "70" "6" "87953298" "87953298" "subst" "0" "02329" "ZNF292_000048" "g.87953298C>T" "" "" "" "ZNF292(NM_001351444.2):c.427C>T (p.Q143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924587" "0" "50" "6" "87964573" "87964573" "subst" "0" "02327" "ZNF292_000049" "g.87964573T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924588" "0" "50" "6" "87964632" "87964632" "subst" "0" "02327" "ZNF292_000050" "g.87964632C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929250" "0" "30" "6" "87953322" "87953322" "subst" "0.00100557" "02325" "ZNF292_000020" "g.87953322T>G" "" "" "" "ZNF292(NM_015021.1):c.871T>G (p.(Cys291Gly)), ZNF292(NM_015021.3):c.871T>G (p.C291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929251" "0" "50" "6" "87967530" "87967530" "subst" "0" "02327" "ZNF292_000051" "g.87967530T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964297" "0" "30" "6" "87970615" "87970615" "subst" "0.000492874" "02325" "ZNF292_000053" "g.87970615T>A" "" "" "" "ZNF292(NM_015021.3):c.7268T>A (p.L2423H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977391" "0" "30" "6" "87925425" "87925425" "subst" "0" "01804" "ZNF292_000054" "g.87925425C>A" "" "" "" "ZNF292(NM_015021.3):c.169-196C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977392" "0" "30" "6" "87971482" "87971482" "subst" "4.08684E-5" "01804" "ZNF292_000055" "g.87971482T>C" "" "" "" "ZNF292(NM_015021.3):c.8135T>C (p.(Ile2712Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995945" "0" "30" "6" "87865349" "87865349" "subst" "0" "01804" "ZNF292_000056" "g.87865349G>A" "" "" "" "ZNF292(NM_015021.1):c.40G>A (p.(Gly14Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995946" "0" "30" "6" "87865371" "87865371" "subst" "2.11173E-5" "01804" "ZNF292_000057" "g.87865371A>G" "" "" "" "ZNF292(NM_015021.1):c.62A>G (p.(Glu21Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995947" "0" "30" "6" "87928374" "87928374" "subst" "0" "01804" "ZNF292_000058" "g.87928374G>A" "" "" "" "ZNF292(NM_015021.1):c.463G>A (p.(Ala155Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995948" "0" "50" "6" "87953243" "87953243" "subst" "2.42683E-5" "01804" "ZNF292_000059" "g.87953243A>T" "" "" "" "ZNF292(NM_015021.1):c.792A>T (p.(Glu264Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995949" "0" "50" "6" "87955295" "87955295" "subst" "0" "01804" "ZNF292_000060" "g.87955295G>A" "" "" "" "ZNF292(NM_015021.1):c.953G>A (p.(Arg318His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995950" "0" "50" "6" "87964677" "87964677" "subst" "0" "01804" "ZNF292_000061" "g.87964677C>T" "" "" "" "ZNF292(NM_015021.1):c.1330C>T (p.(Pro444Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995951" "0" "50" "6" "87964813" "87964813" "subst" "0" "01804" "ZNF292_000062" "g.87964813G>C" "" "" "" "ZNF292(NM_015021.1):c.1466G>C (p.(Ser489Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995952" "0" "70" "6" "87965107" "87965108" "del" "0" "01804" "ZNF292_000063" "g.87965107_87965108del" "" "" "" "ZNF292(NM_015021.1):c.1760_1761delAT (p.(His587fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995953" "0" "50" "6" "87965533" "87965533" "subst" "4.07093E-6" "01804" "ZNF292_000064" "g.87965533G>A" "" "" "" "ZNF292(NM_015021.1):c.2186G>A (p.(Arg729Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995954" "0" "30" "6" "87965560" "87965560" "subst" "4.88556E-5" "01804" "ZNF292_000065" "g.87965560A>G" "" "" "" "ZNF292(NM_015021.1):c.2213A>G (p.(Asn738Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995955" "0" "30" "6" "87965752" "87965752" "subst" "0" "01804" "ZNF292_000066" "g.87965752A>G" "" "" "" "ZNF292(NM_015021.1):c.2405A>G (p.(Gln802Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995956" "0" "30" "6" "87965841" "87965841" "subst" "0" "01804" "ZNF292_000067" "g.87965841A>C" "" "" "" "ZNF292(NM_015021.1):c.2494A>C (p.(Ser832Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995957" "0" "30" "6" "87965913" "87965913" "subst" "0" "01804" "ZNF292_000068" "g.87965913G>C" "" "" "" "ZNF292(NM_015021.1):c.2566G>C (p.(Glu856Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995958" "0" "50" "6" "87966075" "87966075" "subst" "4.12766E-6" "01804" "ZNF292_000069" "g.87966075C>T" "" "" "" "ZNF292(NM_015021.1):c.2728C>T (p.(Leu910Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995959" "0" "30" "6" "87966091" "87966091" "subst" "0" "01804" "ZNF292_000070" "g.87966091G>A" "" "" "" "ZNF292(NM_015021.1):c.2744G>A (p.(Gly915Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995960" "0" "50" "6" "87966433" "87966435" "del" "0" "01804" "ZNF292_000071" "g.87966433_87966435del" "" "" "" "ZNF292(NM_015021.1):c.3086_3088delTGA (p.(Met1029del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995961" "0" "30" "6" "87966523" "87966523" "subst" "4.8897E-5" "01804" "ZNF292_000072" "g.87966523A>G" "" "" "" "ZNF292(NM_015021.1):c.3176A>G (p.(Asn1059Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995962" "0" "30" "6" "87966574" "87966574" "subst" "4.88918E-5" "01804" "ZNF292_000073" "g.87966574C>T" "" "" "" "ZNF292(NM_015021.1):c.3227C>T (p.(Pro1076Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995963" "0" "50" "6" "87966748" "87966748" "subst" "0" "01804" "ZNF292_000074" "g.87966748G>T" "" "" "" "ZNF292(NM_015021.1):c.3401G>T (p.(Arg1134Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995964" "0" "30" "6" "87966765" "87966765" "subst" "0" "01804" "ZNF292_000075" "g.87966765C>G" "" "" "" "ZNF292(NM_015021.1):c.3418C>G (p.(Gln1140Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995965" "0" "30" "6" "87966871" "87966871" "subst" "2.84872E-5" "01804" "ZNF292_000015" "g.87966871A>G" "" "" "" "ZNF292(NM_015021.1):c.3524A>G (p.(Asn1175Ser)), ZNF292(NM_015021.2):c.3524A>G (p.N1175S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995966" "0" "30" "6" "87966889" "87966889" "subst" "1.22077E-5" "01804" "ZNF292_000076" "g.87966889C>T" "" "" "" "ZNF292(NM_015021.1):c.3542C>T (p.(Ser1181Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995967" "0" "30" "6" "87966956" "87966956" "subst" "4.06888E-6" "01804" "ZNF292_000077" "g.87966956G>C" "" "" "" "ZNF292(NM_015021.1):c.3609G>C (p.(Leu1203Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995968" "0" "30" "6" "87966982" "87966982" "subst" "1.22186E-5" "01804" "ZNF292_000078" "g.87966982A>C" "" "" "" "ZNF292(NM_015021.1):c.3635A>C (p.(Asn1212Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995969" "0" "70" "6" "87967011" "87967011" "subst" "0" "01804" "ZNF292_000079" "g.87967011G>T" "" "" "" "ZNF292(NM_015021.1):c.3664G>T (p.(Glu1222*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995970" "0" "30" "6" "87967348" "87967348" "subst" "2.54797E-5" "01804" "ZNF292_000080" "g.87967348A>G" "" "" "" "ZNF292(NM_015021.1):c.4001A>G (p.(Asn1334Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995971" "0" "30" "6" "87967387" "87967387" "subst" "2.9189E-5" "01804" "ZNF292_000081" "g.87967387G>A" "" "" "" "ZNF292(NM_015021.1):c.4040G>A (p.(Arg1347His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995972" "0" "50" "6" "87967413" "87967413" "subst" "0" "01804" "ZNF292_000082" "g.87967413A>G" "" "" "" "ZNF292(NM_015021.1):c.4066A>G (p.(Arg1356Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995973" "0" "50" "6" "87967984" "87967984" "subst" "4.09286E-6" "01804" "ZNF292_000083" "g.87967984T>G" "" "" "" "ZNF292(NM_015021.1):c.4637T>G (p.(Leu1546Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995974" "0" "30" "6" "87968116" "87968116" "subst" "0" "01804" "ZNF292_000084" "g.87968116C>G" "" "" "" "ZNF292(NM_015021.1):c.4769C>G (p.(Pro1590Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995975" "0" "30" "6" "87968125" "87968125" "subst" "3.25728E-5" "01804" "ZNF292_000085" "g.87968125G>C" "" "" "" "ZNF292(NM_015021.1):c.4778G>C (p.(Gly1593Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995976" "0" "30" "6" "87968196" "87968196" "subst" "0" "01804" "ZNF292_000086" "g.87968196T>A" "" "" "" "ZNF292(NM_015021.1):c.4849T>A (p.(Ser1617Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995977" "0" "30" "6" "87968319" "87968319" "subst" "0" "01804" "ZNF292_000087" "g.87968319A>G" "" "" "" "ZNF292(NM_015021.1):c.4972A>G (p.(Ile1658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995978" "0" "30" "6" "87968320" "87968320" "subst" "2.03807E-5" "01804" "ZNF292_000088" "g.87968320T>C" "" "" "" "ZNF292(NM_015021.1):c.4973T>C (p.(Ile1658Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995979" "0" "30" "6" "87968478" "87968478" "subst" "4.89964E-5" "01804" "ZNF292_000089" "g.87968478G>C" "" "" "" "ZNF292(NM_015021.1):c.5131G>C (p.(Glu1711Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995980" "0" "30" "6" "87969481" "87969481" "subst" "1.34368E-5" "01804" "ZNF292_000090" "g.87969481T>C" "" "" "" "ZNF292(NM_015021.1):c.6134T>C (p.(Val2045Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995981" "0" "30" "6" "87969622" "87969622" "subst" "4.07329E-6" "01804" "ZNF292_000091" "g.87969622A>G" "" "" "" "ZNF292(NM_015021.1):c.6275A>G (p.(Lys2092Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995982" "0" "30" "6" "87969841" "87969841" "subst" "0" "01804" "ZNF292_000092" "g.87969841C>T" "" "" "" "ZNF292(NM_015021.1):c.6494C>T (p.(Thr2165Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995983" "0" "30" "6" "87970272" "87970272" "subst" "1.63626E-5" "01804" "ZNF292_000093" "g.87970272G>C" "" "" "" "ZNF292(NM_015021.1):c.6925G>C (p.(Glu2309Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995984" "0" "30" "6" "87970294" "87970294" "subst" "1.22756E-5" "01804" "ZNF292_000094" "g.87970294G>A" "" "" "" "ZNF292(NM_015021.1):c.6947G>A (p.(Arg2316Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995985" "0" "30" "6" "87970617" "87970619" "del" "0" "01804" "ZNF292_000095" "g.87970617_87970619del" "" "" "" "ZNF292(NM_015021.1):c.7270_7272delCTT (p.(Leu2424del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995986" "0" "50" "6" "87970710" "87970711" "del" "0" "01804" "ZNF292_000096" "g.87970710_87970711del" "" "" "" "ZNF292(NM_015021.1):c.7363_7364delGT (p.(Val2455fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995987" "0" "30" "6" "87971032" "87971032" "subst" "4.52083E-5" "01804" "ZNF292_000097" "g.87971032G>A" "" "" "" "ZNF292(NM_015021.1):c.7685G>A (p.(Arg2562His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995988" "0" "50" "6" "87971421" "87971421" "subst" "1.22456E-5" "01804" "ZNF292_000098" "g.87971421G>A" "" "" "" "ZNF292(NM_015021.1):c.8074G>A (p.(Val2692Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995989" "0" "30" "6" "87971491" "87971491" "subst" "3.277E-5" "01804" "ZNF292_000099" "g.87971491G>T" "" "" "" "ZNF292(NM_015021.1):c.8144G>T (p.(Gly2715Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014249" "0" "30" "6" "87928426" "87928426" "subst" "9.67492E-5" "02325" "ZNF292_000100" "g.87928426A>G" "" "" "" "ZNF292(NM_015021.3):c.515A>G (p.Q172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001023923" "0" "70" "6" "87965208" "87965209" "del" "0" "03779" "ZNF292_000101" "g.87965208_87965209del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001025284" "0" "50" "6" "87969876" "87969876" "subst" "1.22488E-5" "02325" "ZNF292_000102" "g.87969876A>G" "" "" "" "ZNF292(NM_015021.3):c.6529A>G (p.S2177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029806" "0" "90" "6" "87966779" "87966783" "del" "0" "01164" "ZNF292_000103" "g.87966779_87966783del" "" "" "" "" "ACMG: PVS1, PS4_SUP, PM2_SUP; Detected in at least 4 individuals with ZNF292-associated phenotype (3 index patients and one affected father)" "Germline" "?" "" "0" "" "" "g.87257061_87257065del" "VCV001803333.2" "pathogenic (dominant)" "ACMG" "0001030870" "3" "70" "6" "87967432" "87967432" "subst" "0" "00006" "ZNF292_000104" "g.87967432A>G" "" "{PMID:Desgrouas 2025:40011009}" "" "4086A>G (Lys1362Arg)" "" "Germline" "yes" "" "0" "" "" "g.87257714A>G" "" "VUS" "ACMG" "0001030876" "3" "70" "6" "87967432" "87967432" "subst" "0" "00006" "ZNF292_000104" "g.87967432A>G" "" "{PMID:Desgrouas 2025:40011009}" "" "4086A>G (Lys1362Arg)" "" "Germline" "yes" "" "0" "" "" "g.87257714A>G" "" "VUS" "ACMG" "0001035953" "0" "30" "6" "87955320" "87955320" "subst" "0" "01804" "ZNF292_000105" "g.87955320A>G" "" "" "" "ZNF292(NM_015021.3):c.978A>G (p.(Thr326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035954" "0" "30" "6" "87963942" "87963942" "subst" "0" "01804" "ZNF292_000106" "g.87963942A>T" "" "" "" "ZNF292(NM_015021.3):c.1021-426A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035955" "0" "50" "6" "87967082" "87967082" "subst" "8.14584E-6" "01804" "ZNF292_000107" "g.87967082T>G" "" "" "" "ZNF292(NM_015021.3):c.3735T>G (p.(Asp1245Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035956" "0" "50" "6" "87968736" "87968736" "subst" "0" "01804" "ZNF292_000108" "g.87968736T>A" "" "" "" "ZNF292(NM_015021.3):c.5389T>A (p.(Ser1797Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035957" "0" "30" "6" "87969411" "87969411" "subst" "0.00141757" "01804" "ZNF292_000017" "g.87969411G>T" "" "" "" "ZNF292(NM_015021.2):c.6064G>T (p.A2022S), ZNF292(NM_015021.3):c.6064G>T (p.(Ala2022Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047364" "0" "70" "6" "87967445" "87967445" "subst" "0" "03544" "ZNF292_000109" "g.87967445G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.87257727G>A" "{CV:4086075}" "likely pathogenic" "ACMG" "0001052432" "0" "50" "6" "87964731" "87964731" "subst" "0" "01804" "ZNF292_000110" "g.87964731G>A" "" "" "" "ZNF292(NM_015021.3):c.1384G>A (p.(Glu462Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052433" "0" "50" "6" "87965415" "87965415" "subst" "0" "01804" "ZNF292_000111" "g.87965415A>C" "" "" "" "ZNF292(NM_015021.3):c.2068A>C (p.(Lys690Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052434" "0" "50" "6" "87968913" "87968913" "subst" "4.08063E-6" "01804" "ZNF292_000112" "g.87968913C>T" "" "" "" "ZNF292(NM_015021.3):c.5566C>T (p.(Pro1856Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052435" "0" "30" "6" "87968962" "87968962" "subst" "8.56018E-5" "01804" "ZNF292_000113" "g.87968962C>A" "" "" "" "ZNF292(NM_015021.3):c.5615C>A (p.(Thr1872Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052436" "0" "50" "6" "87969240" "87969240" "subst" "4.93574E-6" "01804" "ZNF292_000114" "g.87969240C>T" "" "" "" "ZNF292(NM_015021.3):c.5893C>T (p.(Arg1965Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052437" "0" "30" "6" "87970251" "87970251" "subst" "0.000486437" "01804" "ZNF292_000115" "g.87970251A>G" "" "" "" "ZNF292(NM_015021.3):c.6904A>G (p.(Met2302Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052438" "0" "50" "6" "87970258" "87970258" "subst" "4.09229E-6" "01804" "ZNF292_000116" "g.87970258G>A" "" "" "" "ZNF292(NM_015021.3):c.6911G>A (p.(Ser2304Asn))" "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 ZNF292 ## Count = 120 "{{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}}" "0000179039" "00023370" "90" "3066" "0" "3069" "0" "c.3066_3069del" "r.(?)" "p.(Glu1022Aspfs*3)" "" "0000313152" "00023370" "50" "4658" "0" "4658" "0" "c.4658C>T" "r.(?)" "p.(Thr1553Met)" "" "0000313153" "00023370" "50" "4933" "0" "4933" "0" "c.4933C>T" "r.(?)" "p.(Gln1645Ter)" "" "0000320235" "00023370" "10" "7303" "0" "7303" "0" "c.7303G>A" "r.(?)" "p.(Val2435Ile)" "" "0000344721" "00023370" "50" "8052" "0" "8052" "0" "c.8052A>C" "r.(?)" "p.(Gln2684His)" "" "0000407981" "00023370" "00" "2828" "0" "2829" "0" "c.2828_2829del" "r.(?)" "p.(Leu943Glnfs*5)" "" "0000529959" "00023370" "30" "711" "0" "711" "0" "c.711A>G" "r.(?)" "p.(Thr237=)" "" "0000529960" "00023370" "50" "2380" "0" "2380" "0" "c.2380del" "r.(?)" "p.(Tyr794IlefsTer64)" "" "0000529961" "00023370" "50" "2783" "0" "2785" "0" "c.2783_2785del" "r.(?)" "p.(Pro928del)" "" "0000529963" "00023370" "50" "3215" "0" "3215" "0" "c.3215C>T" "r.(?)" "p.(Ala1072Val)" "" "0000529964" "00023370" "50" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Arg1134Cys)" "" "0000529966" "00023370" "30" "3426" "0" "3426" "0" "c.3426T>A" "r.(?)" "p.(Ala1142=)" "" "0000529967" "00023370" "30" "3524" "0" "3524" "0" "c.3524A>G" "r.(?)" "p.(Asn1175Ser)" "" "0000529968" "00023370" "30" "5823" "0" "5823" "0" "c.5823A>G" "r.(?)" "p.(Gln1941=)" "" "0000529969" "00023370" "30" "6064" "0" "6064" "0" "c.6064G>T" "r.(?)" "p.(Ala2022Ser)" "" "0000529970" "00023370" "50" "6809" "0" "6809" "0" "c.6809G>A" "r.(?)" "p.(Arg2270Gln)" "" "0000529971" "00023370" "50" "7537" "0" "7539" "0" "c.7537_7539del" "r.(?)" "p.(Asp2513del)" "" "0000610543" "00023370" "30" "871" "0" "871" "0" "c.871T>G" "r.(?)" "p.(Cys291Gly)" "" "0000610544" "00023370" "50" "3203" "0" "3203" "0" "c.3203T>G" "r.(?)" "p.(Leu1068Ter)" "" "0000610545" "00023370" "70" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Arg1107Ter)" "" "0000610546" "00023370" "50" "3319" "0" "3319" "0" "c.3319C>T" "r.(?)" "p.(Arg1107Ter)" "" "0000647148" "00023370" "50" "8088" "0" "8088" "0" "c.8088del" "r.(?)" "p.(Lys2696Asnfs*14)" "" "0000655672" "00023370" "50" "2117" "0" "2117" "0" "c.2117A>T" "r.(?)" "p.(Lys706Ile)" "" "0000655673" "00023370" "70" "5946" "0" "5950" "0" "c.5946_5950del" "r.(?)" "p.(Leu1982PhefsTer2)" "" "0000677900" "00023370" "50" "7081" "0" "7081" "0" "c.7081C>T" "r.(?)" "p.(Arg2361Cys)" "" "0000689817" "00023370" "50" "2783" "0" "2785" "0" "c.2783_2785del" "r.(?)" "p.(Pro928del)" "" "0000689818" "00023370" "30" "4911" "0" "4911" "0" "c.4911A>G" "r.(?)" "p.(Pro1637=)" "" "0000689819" "00023370" "30" "5336" "0" "5336" "0" "c.5336G>A" "r.(?)" "p.(Gly1779Asp)" "" "0000708294" "00023370" "90" "4839" "0" "4840" "0" "c.4839_4840del" "r.(?)" "p.(Asn1614HisfsTer8)" "" "0000721130" "00023370" "50" "2960" "0" "2960" "0" "c.2960del" "r.(?)" "p.(Gln987ArgfsTer19)" "" "0000721131" "00023370" "50" "5330" "0" "5330" "0" "c.5330C>T" "r.(?)" "p.(Ser1777Phe)" "" "0000721132" "00023370" "50" "5914" "0" "5914" "0" "c.5914C>T" "r.(?)" "p.(His1972Tyr)" "" "0000721133" "00023370" "30" "5974" "0" "5974" "0" "c.5974T>C" "r.(?)" "p.(Ser1992Pro)" "" "0000721134" "00023370" "90" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054Lysfs*14)" "" "0000721135" "00023370" "50" "7870" "0" "7870" "0" "c.7870C>T" "r.(?)" "p.(His2624Tyr)" "" "0000802754" "00023370" "50" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(His730Tyr)" "" "0000802755" "00023370" "30" "2953" "0" "2953" "0" "c.2953G>C" "r.(?)" "p.(Gly985Arg)" "" "0000802756" "00023370" "70" "2989" "0" "2989" "0" "c.2989del" "r.(?)" "p.(Asp997Metfs*9)" "" "0000802757" "00023370" "30" "5433" "0" "5433" "0" "c.5433G>A" "r.(?)" "p.(Pro1811=)" "" "0000836769" "00023370" "70" "6160" "0" "6161" "0" "c.6160_6161del" "r.(?)" "p.(Glu2054Lysfs*14)" "" "0000860538" "00023370" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Ser897Leu)" "" "0000887493" "00023370" "90" "1796" "0" "1797" "0" "c.1796_1797del" "r.(?)" "p.(Arg599Thrfs*21)" "" "0000887494" "00023370" "30" "4058" "0" "4058" "0" "c.4058G>A" "r.(?)" "p.(Gly1353Glu)" "" "0000887495" "00023370" "50" "7621" "0" "7622" "0" "c.7621_7622del" "r.(?)" "p.(Gln2541Lysfs*2)" "" "0000912596" "00023370" "70" "1558" "0" "1561" "0" "c.1558_1561del" "r.(?)" "p.(Glu520*)" "" "0000912597" "00023370" "90" "2834" "0" "2835" "0" "c.2834_2835del" "r.(?)" "p.(Gln945Argfs*3)" "" "0000912598" "00023370" "70" "6046" "0" "6046" "0" "c.6046A>T" "r.(?)" "p.(Lys2016*)" "" "0000912599" "00023370" "90" "6571" "0" "6571" "0" "c.6571C>T" "r.(?)" "p.(Gln2191*)" "" "0000924586" "00023370" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Gln283*)" "" "0000924587" "00023370" "50" "1226" "0" "1226" "0" "c.1226T>C" "r.(?)" "p.(Leu409Ser)" "" "0000924588" "00023370" "50" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Cys)" "" "0000929250" "00023370" "30" "871" "0" "871" "0" "c.871T>G" "r.(?)" "p.(Cys291Gly)" "" "0000929251" "00023370" "50" "4183" "0" "4183" "0" "c.4183T>C" "r.(?)" "p.(Ser1395Pro)" "" "0000964297" "00023370" "30" "7268" "0" "7268" "0" "c.7268T>A" "r.(?)" "p.(Leu2423His)" "" "0000977391" "00023370" "30" "169" "-196" "169" "-196" "c.169-196C>A" "r.(=)" "p.(=)" "" "0000977392" "00023370" "30" "8135" "0" "8135" "0" "c.8135T>C" "r.(?)" "p.(Ile2712Thr)" "" "0000995945" "00023370" "30" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Gly14Ser)" "" "0000995946" "00023370" "30" "62" "0" "62" "0" "c.62A>G" "r.(?)" "p.(Glu21Gly)" "" "0000995947" "00023370" "30" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" "" "0000995948" "00023370" "50" "792" "0" "792" "0" "c.792A>T" "r.(?)" "p.(Glu264Asp)" "" "0000995949" "00023370" "50" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "0000995950" "00023370" "50" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Pro444Ser)" "" "0000995951" "00023370" "50" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Ser489Thr)" "" "0000995952" "00023370" "70" "1760" "0" "1761" "0" "c.1760_1761del" "r.(?)" "p.(His587Argfs*6)" "" "0000995953" "00023370" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0000995954" "00023370" "30" "2213" "0" "2213" "0" "c.2213A>G" "r.(?)" "p.(Asn738Ser)" "" "0000995955" "00023370" "30" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Gln802Arg)" "" "0000995956" "00023370" "30" "2494" "0" "2494" "0" "c.2494A>C" "r.(?)" "p.(Ser832Arg)" "" "0000995957" "00023370" "30" "2566" "0" "2566" "0" "c.2566G>C" "r.(?)" "p.(Glu856Gln)" "" "0000995958" "00023370" "50" "2728" "0" "2728" "0" "c.2728C>T" "r.(?)" "p.(Leu910Phe)" "" "0000995959" "00023370" "30" "2744" "0" "2744" "0" "c.2744G>A" "r.(?)" "p.(Gly915Glu)" "" "0000995960" "00023370" "50" "3086" "0" "3088" "0" "c.3086_3088del" "r.(?)" "p.(Met1029del)" "" "0000995961" "00023370" "30" "3176" "0" "3176" "0" "c.3176A>G" "r.(?)" "p.(Asn1059Ser)" "" "0000995962" "00023370" "30" "3227" "0" "3227" "0" "c.3227C>T" "r.(?)" "p.(Pro1076Leu)" "" "0000995963" "00023370" "50" "3401" "0" "3401" "0" "c.3401G>T" "r.(?)" "p.(Arg1134Leu)" "" "0000995964" "00023370" "30" "3418" "0" "3418" "0" "c.3418C>G" "r.(?)" "p.(Gln1140Glu)" "" "0000995965" "00023370" "30" "3524" "0" "3524" "0" "c.3524A>G" "r.(?)" "p.(Asn1175Ser)" "" "0000995966" "00023370" "30" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Leu)" "" "0000995967" "00023370" "30" "3609" "0" "3609" "0" "c.3609G>C" "r.(?)" "p.(Leu1203Phe)" "" "0000995968" "00023370" "30" "3635" "0" "3635" "0" "c.3635A>C" "r.(?)" "p.(Asn1212Thr)" "" "0000995969" "00023370" "70" "3664" "0" "3664" "0" "c.3664G>T" "r.(?)" "p.(Glu1222*)" "" "0000995970" "00023370" "30" "4001" "0" "4001" "0" "c.4001A>G" "r.(?)" "p.(Asn1334Ser)" "" "0000995971" "00023370" "30" "4040" "0" "4040" "0" "c.4040G>A" "r.(?)" "p.(Arg1347His)" "" "0000995972" "00023370" "50" "4066" "0" "4066" "0" "c.4066A>G" "r.(?)" "p.(Arg1356Gly)" "" "0000995973" "00023370" "50" "4637" "0" "4637" "0" "c.4637T>G" "r.(?)" "p.(Leu1546Trp)" "" "0000995974" "00023370" "30" "4769" "0" "4769" "0" "c.4769C>G" "r.(?)" "p.(Pro1590Arg)" "" "0000995975" "00023370" "30" "4778" "0" "4778" "0" "c.4778G>C" "r.(?)" "p.(Gly1593Ala)" "" "0000995976" "00023370" "30" "4849" "0" "4849" "0" "c.4849T>A" "r.(?)" "p.(Ser1617Thr)" "" "0000995977" "00023370" "30" "4972" "0" "4972" "0" "c.4972A>G" "r.(?)" "p.(Ile1658Val)" "" "0000995978" "00023370" "30" "4973" "0" "4973" "0" "c.4973T>C" "r.(?)" "p.(Ile1658Thr)" "" "0000995979" "00023370" "30" "5131" "0" "5131" "0" "c.5131G>C" "r.(?)" "p.(Glu1711Gln)" "" "0000995980" "00023370" "30" "6134" "0" "6134" "0" "c.6134T>C" "r.(?)" "p.(Val2045Ala)" "" "0000995981" "00023370" "30" "6275" "0" "6275" "0" "c.6275A>G" "r.(?)" "p.(Lys2092Arg)" "" "0000995982" "00023370" "30" "6494" "0" "6494" "0" "c.6494C>T" "r.(?)" "p.(Thr2165Ile)" "" "0000995983" "00023370" "30" "6925" "0" "6925" "0" "c.6925G>C" "r.(?)" "p.(Glu2309Gln)" "" "0000995984" "00023370" "30" "6947" "0" "6947" "0" "c.6947G>A" "r.(?)" "p.(Arg2316Gln)" "" "0000995985" "00023370" "30" "7270" "0" "7272" "0" "c.7270_7272del" "r.(?)" "p.(Leu2424del)" "" "0000995986" "00023370" "50" "7363" "0" "7364" "0" "c.7363_7364del" "r.(?)" "p.(Val2455Ilefs*5)" "" "0000995987" "00023370" "30" "7685" "0" "7685" "0" "c.7685G>A" "r.(?)" "p.(Arg2562His)" "" "0000995988" "00023370" "50" "8074" "0" "8074" "0" "c.8074G>A" "r.(?)" "p.(Val2692Ile)" "" "0000995989" "00023370" "30" "8144" "0" "8144" "0" "c.8144G>T" "r.(?)" "p.(Gly2715Val)" "" "0001014249" "00023370" "30" "515" "0" "515" "0" "c.515A>G" "r.(?)" "p.(Gln172Arg)" "" "0001023923" "00023370" "70" "1861" "0" "1862" "0" "c.1861_1862del" "r.(?)" "p.(Asn621SerfsTer4)" "" "0001025284" "00023370" "50" "6529" "0" "6529" "0" "c.6529A>G" "r.(?)" "p.(Ser2177Gly)" "" "0001029806" "00023370" "90" "3432" "0" "3436" "0" "c.3432_3436del" "r.(?)" "p.(Asn1144Lysfs*5)" "8" "0001030870" "00023370" "70" "4085" "0" "4085" "0" "c.4085A>G" "r.(?)" "p.(Lys1362Arg)" "" "0001030876" "00023370" "70" "4085" "0" "4085" "0" "c.4085A>G" "r.(?)" "p.(Lys1362Arg)" "" "0001035953" "00023370" "30" "978" "0" "978" "0" "c.978A>G" "r.(?)" "p.(=)" "" "0001035954" "00023370" "30" "1021" "-426" "1021" "-426" "c.1021-426A>T" "r.(=)" "p.(=)" "" "0001035955" "00023370" "50" "3735" "0" "3735" "0" "c.3735T>G" "r.(?)" "p.(Asp1245Glu)" "" "0001035956" "00023370" "50" "5389" "0" "5389" "0" "c.5389T>A" "r.(?)" "p.(Ser1797Thr)" "" "0001035957" "00023370" "30" "6064" "0" "6064" "0" "c.6064G>T" "r.(?)" "p.(Ala2022Ser)" "" "0001047364" "00023370" "70" "4098" "0" "4098" "0" "c.4098G>A" "r.(?)" "p.(Trp1366*)" "8" "0001052432" "00023370" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Glu462Lys)" "" "0001052433" "00023370" "50" "2068" "0" "2068" "0" "c.2068A>C" "r.(?)" "p.(Lys690Gln)" "" "0001052434" "00023370" "50" "5566" "0" "5566" "0" "c.5566C>T" "r.(?)" "p.(Pro1856Ser)" "" "0001052435" "00023370" "30" "5615" "0" "5615" "0" "c.5615C>A" "r.(?)" "p.(Thr1872Lys)" "" "0001052436" "00023370" "50" "5893" "0" "5893" "0" "c.5893C>T" "r.(?)" "p.(Arg1965Trp)" "" "0001052437" "00023370" "30" "6904" "0" "6904" "0" "c.6904A>G" "r.(?)" "p.(Met2302Val)" "" "0001052438" "00023370" "50" "6911" "0" "6911" "0" "c.6911G>A" "r.(?)" "p.(Ser2304Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000111882" "0000179039" "0000184010" "0000407981" "0000290476" "0000647148" "0000402540" "0000836769" "0000465993" "0001029806" "0000466872" "0001030870" "0000466873" "0001030876" "0000467945" "0001047364"