### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNHIT3) # 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}}" "ZNHIT3" "zinc finger, HIT-type containing 3" "17" "q21.1" "unknown" "NC_000017.10" "UD_132464416999" "" "https://www.LOVD.nl/ZNHIT3" "" "1" "12309" "9326" "604500" "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/ZNHIT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-02 21:55:31" "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}}" "00024266" "ZNHIT3" "transcript variant 1" "003" "NM_004773.3" "" "NP_004764.1" "" "" "" "-73" "886" "468" "34842471" "34851666" "00006" "2017-06-02 21:57:07" "" "" ## 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}}" "05277" "PEHO" "PEHO syndrome (PEHO)" "AR" "260565" "" "progressive encephalopathy (HP:0002448), edema (HP:0000969), hypsarrhythmia (HP:0002521), optic atrophy (HP:0000648)" "" "00006" "2017-06-02 22:02:29" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNHIT3" "05277" ## 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}}" "00229643" "" "" "" "1" "" "01261" "{PMID:Õunap 2020:31048081}, {DOI:Õunap 2020:10.1016/j.ejmg.2019.04.017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Estonia" ">08y" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00229643" "05277" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05277 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000279784" "05277" "00229643" "00006" "Familial, autosomal recessive" "08y06m" "see paper" "" "" "" "" "" "" "" "PEHO syndrome" ## 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}}" "0000230736" "00229643" "1" "01261" "01261" "2019-04-08 00:17:12" "" "" "SEQ-NG-I" "DNA" "blood" "WGS and WES" ## 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 = 20 "{{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}}" "0000302678" "0" "30" "17" "34866586" "34866586" "subst" "0.000133569" "01943" "MYO19_000004" "g.34866586G>T" "" "" "" "MYO19(NM_001163735.1):c.1156C>A (p.P386T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36510747G>T" "" "likely benign" "" "0000302679" "0" "50" "17" "34859015" "34859015" "subst" "5.2794E-5" "01943" "MYO19_000003" "g.34859015G>A" "" "" "" "MYO19(NM_001163735.1):c.2002C>T (p.L668F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36503175G>A" "" "VUS" "" "0000302680" "0" "50" "17" "34857009" "34857009" "subst" "0" "01943" "MYO19_000001" "g.34857009G>T" "" "" "" "MYO19(NM_001163735.1):c.2147C>A (p.A716D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36501169G>T" "" "VUS" "" "0000320361" "0" "50" "17" "34849822" "34849823" "del" "0" "01943" "ZNHIT3_000001" "g.34849822_34849823del" "" "" "" "ZNHIT3(NM_001281432.1):c.258_259delAG (p.R86Sfs*104)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36493978_36493979del" "" "VUS" "" "0000325341" "0" "50" "17" "34858954" "34858954" "subst" "4.062E-5" "01804" "MYO19_000002" "g.34858954G>A" "" "" "" "MYO19(NM_001163735.1):c.2063C>T (p.(Pro688Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36503114G>A" "" "VUS" "" "0000325342" "0" "50" "17" "34894191" "34894191" "subst" "0.000113793" "01804" "PIGW_000003" "g.34894191T>C" "" "" "" "PIGW(NM_178517.3):c.1241T>C (p.(Ile414Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36538342T>C" "" "VUS" "" "0000472353" "21" "90" "17" "34842784" "34842784" "subst" "0.00041876" "01261" "ZNHIT3_000003" "g.34842784C>T" "" "{PMID:Õunap 2020:31048081}, {DOI:Õunap 2020:10.1016/j.ejmg.2019.04.017}" "" "" "" "Germline" "" "" "0" "" "" "g.36486940C>T" "" "pathogenic (recessive)" "" "0000472354" "11" "70" "17" "34842584" "34842584" "subst" "2.84613E-5" "01261" "ZNHIT3_000002" "g.34842584G>T" "" "{PMID:Õunap 2020:31048081}, {DOI:Õunap 2020:10.1016/j.ejmg.2019.04.017}" "" "" "" "Germline" "" "" "0" "" "" "g.36486740G>T" "" "likely pathogenic (recessive)" "" "0000561082" "0" "30" "17" "34854947" "34854947" "subst" "3.30994E-5" "01943" "MYO19_000005" "g.34854947A>G" "" "" "" "MYO19(NM_001163735.1):c.2435T>C (p.M812T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36499103A>G" "" "likely benign" "" "0000561083" "0" "50" "17" "34862932" "34862932" "subst" "0.00035062" "01943" "MYO19_000006" "g.34862932C>T" "" "" "" "MYO19(NM_001163735.1):c.1514G>A (p.G505D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36507093C>T" "" "VUS" "" "0000561085" "0" "50" "17" "34893567" "34893570" "del" "0" "01943" "MYO19_000008" "g.34893567_34893570del" "" "" "" "PIGW(NM_178517.4):c.617_620delTTTG (p.V206Gfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36537718_36537721del" "" "VUS" "" "0000561086" "0" "30" "17" "34894018" "34894018" "subst" "2.43988E-5" "01943" "MYO19_000009" "g.34894018A>G" "" "" "" "PIGW(NM_178517.4):c.1068A>G (p.V356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36538169A>G" "" "likely benign" "" "0000658088" "0" "30" "17" "34894360" "34894360" "subst" "5.28228E-5" "01943" "MYO19_000011" "g.34894360C>T" "" "" "" "PIGW(NM_178517.4):c.1410C>T (p.H470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36538511C>T" "" "likely benign" "" "0000692317" "0" "30" "17" "34894082" "34894082" "subst" "0.00070584" "01943" "MYO19_000012" "g.34894082G>C" "" "" "" "PIGW(NM_178517.4):c.1132G>C (p.V378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726312" "0" "50" "17" "34893558" "34893558" "subst" "8.12176E-6" "02329" "MYO19_000007" "g.34893558T>G" "" "" "" "PIGW(NM_178517.4):c.608T>G (p.L203W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003140" "0" "30" "17" "34842808" "34842808" "subst" "1.2421E-5" "01804" "MYO19_000013" "g.34842808A>G" "" "" "" "ZNHIT3(NM_001281433.1):c.116A>G (p.(Lys39Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041775" "0" "50" "17" "34853485" "34853485" "subst" "0" "01804" "MYO19_000014" "g.34853485G>A" "" "" "" "ZNHIT3(NM_001281432.2):c.322G>A (p.(Ala108Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055970" "0" "50" "17" "34851132" "34851132" "subst" "1.22062E-5" "01804" "MYO19_000015" "g.34851132G>C" "" "" "" "ZNHIT3(NM_004773.4):c.352G>C (p.(Asp118His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055971" "0" "50" "17" "34893056" "34893056" "subst" "0.000215223" "01804" "PIGW_000005" "g.34893056A>G" "" "" "" "PIGW(NM_001346754.2):c.106A>G (p.(Arg36Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055972" "0" "50" "17" "34893596" "34893596" "subst" "4.87381E-5" "01804" "MYO19_000016" "g.34893596C>T" "" "" "" "PIGW(NM_001346754.2):c.646C>T (p.(Arg216*))" "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 ZNHIT3 ## Count = 20 "{{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}}" "0000302678" "00024266" "30" "15806" "0" "15806" "0" "c.*15338G>T" "r.(=)" "p.(=)" "" "0000302679" "00024266" "50" "8235" "0" "8235" "0" "c.*7767G>A" "r.(=)" "p.(=)" "" "0000302680" "00024266" "50" "6229" "0" "6229" "0" "c.*5761G>T" "r.(=)" "p.(=)" "" "0000320361" "00024266" "50" "258" "0" "259" "0" "c.258_259del" "r.(?)" "p.(Arg86SerfsTer67)" "" "0000325341" "00024266" "50" "8174" "0" "8174" "0" "c.*7706G>A" "r.(=)" "p.(=)" "" "0000325342" "00024266" "50" "43411" "0" "43411" "0" "c.*42943T>C" "r.(=)" "p.(=)" "" "0000472353" "00024266" "90" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ser31Leu)" "" "0000472354" "00024266" "70" "41" "0" "41" "0" "c.41G>T" "r.(?)" "p.(Cys14Phe)" "" "0000561082" "00024266" "30" "4167" "0" "4167" "0" "c.*3699A>G" "r.(=)" "p.(=)" "" "0000561083" "00024266" "50" "12152" "0" "12152" "0" "c.*11684C>T" "r.(=)" "p.(=)" "" "0000561085" "00024266" "50" "42787" "0" "42790" "0" "c.*42319_*42322del" "r.(=)" "p.(=)" "" "0000561086" "00024266" "30" "43238" "0" "43238" "0" "c.*42770A>G" "r.(=)" "p.(=)" "" "0000658088" "00024266" "30" "43580" "0" "43580" "0" "c.*43112C>T" "r.(=)" "p.(=)" "" "0000692317" "00024266" "30" "43302" "0" "43302" "0" "c.*42834G>C" "r.(=)" "p.(=)" "" "0000726312" "00024266" "50" "42778" "0" "42778" "0" "c.*42310T>G" "r.(=)" "p.(=)" "" "0001003140" "00024266" "30" "116" "0" "116" "0" "c.116A>G" "r.(?)" "p.(Lys39Arg)" "" "0001041775" "00024266" "50" "2705" "0" "2705" "0" "c.*2237G>A" "r.(=)" "p.(=)" "" "0001055970" "00024266" "50" "352" "0" "352" "0" "c.352G>C" "r.(?)" "p.(Asp118His)" "" "0001055971" "00024266" "50" "42276" "0" "42276" "0" "c.*41808A>G" "r.(=)" "p.(=)" "" "0001055972" "00024266" "50" "42816" "0" "42816" "0" "c.*42348C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000230736" "0000472353" "0000230736" "0000472354"