### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF335) # 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}}" "ZNF335" "zinc finger protein 335" "20" "q13.12" "unknown" "NG_029772.1" "UD_132118833779" "" "https://www.LOVD.nl/ZNF335" "" "1" "15807" "63925" "610827" "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/ZNF335_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-04 09:53:58" "00000" "2025-05-05 21:14:00" ## 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}}" "00023392" "ZNF335" "zinc finger protein 335" "001" "NM_022095.3" "" "NP_071378.1" "" "" "" "-123" "4329" "4029" "44600833" "44577292" "" "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" "00857" "MCPH10" "microcephaly, type 10, primary, autosomal recessive (MCPH-10)" "AR" "615095" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF335" "00139" "ZNF335" "00857" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00103909" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6620_1" "00292938" "" "" "" "61" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292940" "" "" "" "162" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303060" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat105" "00304860" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304861" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00363847" "" "" "" "1" "" "04063" "" "" "M" "yes" "(Tunisia)" "" "" "" "" "" "" "00374883" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1039" "00387827" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8800022" "00387870" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M9000017" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00103909" "00198" "00292938" "00198" "00292940" "00198" "00303060" "05521" "00304860" "00198" "00304861" "00198" "00363847" "00857" "00374883" "00198" "00387827" "00139" "00387870" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00857, 05521 ## Count = 5 "{{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}}" "0000081836" "00198" "00103909" "00006" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, seizures, hypomyelination, failure to thrive" "" "" "" "" "" "" "" "" "" "" "" "0000230143" "05521" "00303060" "00006" "Familial, autosomal recessive" "" "Epileptic Encephalopathy, NOS; age onset unknown" "" "" "" "" "" "" "" "" "" "seizures" "" "0000270093" "00198" "00374883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000281395" "00139" "00387827" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281438" "00139" "00387870" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104367" "00103909" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000294106" "00292938" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294108" "00292940" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304185" "00303060" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000305989" "00304860" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305990" "00304861" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000365076" "00363847" "1" "04063" "04063" "2021-04-30 11:14:03" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000376077" "00374883" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000389058" "00387827" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389101" "00387870" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000104367" "ZNF335" "0000304185" "ZNF335" "0000365076" "ZNF335" "0000376077" "ZNF335" "0000389058" "ZNF335" "0000389101" "ZNF335" ## 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 = 45 "{{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}}" "0000169047" "1" "90" "20" "44578004" "44578004" "subst" "0" "00006" "ZNF335_000001" "g.44578004C>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.45949365C>A" "" "pathogenic" "" "0000169062" "2" "90" "20" "44581308" "44581311" "del" "0" "00006" "ZNF335_000002" "g.44581308_44581311del" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.45952669_45952672del" "" "pathogenic" "" "0000328457" "0" "50" "20" "44574444" "44574444" "subst" "0" "01804" "PCIF1_000001" "g.44574444G>A" "" "" "" "PCIF1(NM_022104.3):c.1263G>A (p.(Met421Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45945805G>A" "" "VUS" "" "0000328459" "0" "50" "20" "44575770" "44575770" "subst" "3.65764E-5" "01804" "PCIF1_000003" "g.44575770G>A" "" "" "" "PCIF1(NM_022104.3):c.1672G>A (p.(Glu558Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45947131G>A" "" "VUS" "" "0000328460" "0" "50" "20" "44575895" "44575895" "subst" "0" "01804" "PCIF1_000004" "g.44575895T>A" "" "" "" "PCIF1(NM_022104.3):c.1708-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45947256T>A" "" "VUS" "" "0000328461" "0" "30" "20" "44576365" "44576365" "subst" "0" "01804" "PCIF1_000005" "g.44576365G>A" "" "" "" "PCIF1(NM_022104.3):c.2086G>A (p.(Gly696Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45947726G>A" "" "likely benign" "" "0000328462" "0" "30" "20" "44576374" "44576374" "subst" "5.54858E-5" "01804" "PCIF1_000006" "g.44576374C>T" "" "" "" "PCIF1(NM_022104.3):c.2095C>T (p.(Arg699Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45947735C>T" "" "likely benign" "" "0000328464" "0" "50" "20" "44580887" "44580887" "subst" "1.63067E-5" "01804" "ZNF335_000004" "g.44580887C>T" "" "" "" "ZNF335(NM_022095.3):c.3088G>A (p.(Gly1030Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45952248C>T" "" "VUS" "" "0000328465" "0" "50" "20" "44581022" "44581022" "subst" "6.69484E-5" "01804" "ZNF335_000005" "g.44581022C>A" "" "" "" "ZNF335(NM_022095.3):c.2953G>T (p.(Asp985Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45952383C>A" "" "VUS" "" "0000328466" "0" "50" "20" "44582458" "44582458" "subst" "0.000898776" "01804" "ZNF335_000006" "g.44582458C>T" "" "" "" "ZNF335(NM_022095.3):c.2572G>A (p.(Glu858Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45953819C>T" "" "VUS" "" "0000328467" "0" "50" "20" "44587935" "44587935" "subst" "2.80681E-5" "01804" "ZNF335_000007" "g.44587935G>A" "" "" "" "ZNF335(NM_022095.3):c.2158C>T (p.(Arg720Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45959296G>A" "" "VUS" "" "0000328469" "0" "50" "20" "44592558" "44592558" "subst" "4.67889E-6" "01804" "ZNF335_000009" "g.44592558G>A" "" "" "" "ZNF335(NM_022095.3):c.1174C>T (p.(Pro392Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45963919G>A" "" "VUS" "" "0000328470" "0" "50" "20" "44596176" "44596177" "ins" "0" "01804" "ZNF335_000010" "g.44596176_44596177insGACGATGATGG" "" "" "" "ZNF335(NM_022095.3):c.912_913insCATCATCGTCC (p.(Asp305HisfsTer9))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967537_45967538insGACGATGATGG" "" "VUS" "" "0000328471" "0" "50" "20" "44596674" "44596674" "subst" "0" "01804" "ZNF335_000011" "g.44596674T>C" "" "" "" "ZNF335(NM_022095.3):c.521-8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968035T>C" "" "VUS" "" "0000328472" "0" "50" "20" "44596962" "44596962" "subst" "4.06398E-6" "01804" "ZNF335_000012" "g.44596962T>C" "" "" "" "ZNF335(NM_022095.3):c.482A>G (p.(Glu161Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45968323T>C" "" "VUS" "" "0000328473" "0" "50" "20" "44598203" "44598203" "subst" "0.00190454" "01804" "ZNF335_000013" "g.44598203C>A" "" "" "" "ZNF335(NM_022095.3):c.329G>T (p.(Ser110Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45969564C>A" "" "VUS" "" "0000328474" "0" "50" "20" "44599926" "44599926" "subst" "0" "01804" "ZNF335_000014" "g.44599926C>T" "" "" "" "ZNF335(NM_022095.3):c.124G>A (p.(Ala42Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45971287C>T" "" "VUS" "" "0000338114" "0" "10" "20" "44599839" "44599839" "subst" "0.860157" "02327" "ZNF335_000018" "g.44599839G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45971200G>C" "" "benign" "" "0000340098" "0" "10" "20" "44596545" "44596545" "subst" "0.329833" "02327" "ZNF335_000017" "g.44596545G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967906G>A" "" "benign" "" "0000348122" "0" "50" "20" "44580817" "44580817" "subst" "0" "02327" "ZNF335_000015" "g.44580817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45952178G>A" "" "VUS" "" "0000348915" "0" "10" "20" "44596207" "44596207" "subst" "0.839875" "02327" "ZNF335_000016" "g.44596207C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45967568C>G" "" "benign" "" "0000618175" "0" "30" "20" "44578687" "44578687" "subst" "0" "01804" "PCIF1_000009" "g.44578687C>T" "" "" "" "ZNF335(NM_022095.3):c.3509G>A (p.(Gly1170Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45950048C>T" "" "likely benign" "" "0000650795" "1" "30" "20" "44587926" "44587926" "subst" "0.0182732" "03575" "ZNF335_000022" "g.44587926A>C" "61/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "61 heterozygous, no homozygous; {DB:CLININrs41305805}" "Germline" "" "rs41305805" "0" "" "" "g.45959287A>C" "" "likely benign" "" "0000650797" "1" "30" "20" "44590732" "44590732" "subst" "0.0215148" "03575" "ZNF335_000023" "g.44590732G>A" "162/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "162 heterozygous; {DB:CLININrs16990964}" "Germline" "" "rs16990964" "0" "" "" "g.45962093G>A" "" "likely benign" "" "0000658773" "0" "30" "20" "44596262" "44596262" "subst" "0.00476732" "01804" "ZNF335_000024" "g.44596262C>T" "" "" "" "ZNF335(NM_022095.3):c.826G>A (p.(Ala276Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967623C>T" "" "likely benign" "" "0000667583" "1" "90" "20" "44578968" "44578969" "del" "0" "00006" "ZNF335_000025" "g.44578968_44578969del" "" "{PMID:Helbig 2016:26795593}" "" "3378_3379delCA" "" "Germline" "" "" "0" "" "" "g.45950329_45950330del" "" "pathogenic (recessive)" "ACMG" "0000667598" "2" "90" "20" "44579092" "44579092" "subst" "0" "00006" "ZNF335_000026" "g.44579092C>A" "" "{PMID:Helbig 2016:26795593}" "" "" "" "Germline" "" "" "0" "" "" "g.45950453C>A" "" "pathogenic (recessive)" "ACMG" "0000669677" "3" "50" "20" "44588904" "44588904" "subst" "0.0119114" "03575" "ZNF335_000019" "g.44588904G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 homozygous; {DB:CLININrs117132825}" "Germline" "" "rs117132825" "0" "" "" "g.45960265G>A" "" "VUS" "" "0000669678" "3" "30" "20" "44590732" "44590732" "subst" "0.0215148" "03575" "ZNF335_000023" "g.44590732G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs16990964}" "Germline" "" "rs16990964" "0" "" "" "g.45962093G>A" "" "likely benign" "" "0000681623" "0" "30" "20" "44578120" "44578120" "subst" "0" "01804" "PCIF1_000010" "g.44578120C>T" "" "" "" "ZNF335(NM_022095.3):c.3753+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681624" "0" "50" "20" "44578900" "44578900" "subst" "0.000744361" "01804" "PCIF1_000011" "g.44578900T>C" "" "" "" "ZNF335(NM_022095.3):c.3445A>G (p.(Ile1149Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681625" "0" "30" "20" "44580958" "44580958" "subst" "1.63276E-5" "01804" "PCIF1_000012" "g.44580958G>A" "" "" "" "ZNF335(NM_022095.3):c.3017C>T (p.(Pro1006Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000766030" "3" "50" "20" "44580913" "44580913" "subst" "0" "04063" "ZNF335_000027" "g.44580913C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45952274C>T" "" "VUS" "ACMG" "0000787428" "3" "50" "20" "44592186" "44592186" "subst" "0" "00006" "ZNF335_000028" "g.44592186G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.45963547G>A" "" "VUS" "" "0000809258" "0" "30" "20" "44592204" "44592204" "subst" "0.000186788" "01943" "ZNF335_000029" "g.44592204G>A" "" "" "" "ZNF335(NM_022095.3):c.1441C>T (p.R481C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817851" "3" "70" "20" "44588870" "44588870" "subst" "8.12434E-6" "00006" "ZNF335_000031" "g.44588870G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.45960231G>A" "" "likely pathogenic (recessive)" "ACMG" "0000817894" "3" "90" "20" "44578005" "44578005" "subst" "0" "00006" "ZNF335_000030" "g.44578005A>C" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.45949366A>C" "" "pathogenic (recessive)" "ACMG" "0000895346" "0" "50" "20" "44594363" "44594363" "subst" "3.37044E-5" "02325" "ZNF335_000032" "g.44594363G>A" "" "" "" "ZNF335(NM_022095.4):c.1006C>T (p.R336W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895347" "0" "50" "20" "44599902" "44599907" "dup" "0" "02325" "ZNF335_000033" "g.44599902_44599907dup" "" "" "" "ZNF335(NM_022095.4):c.147_152dupAGAGGC (p.E50_A51dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983817" "0" "50" "20" "44575021" "44575021" "subst" "7.35895E-5" "01804" "PCIF1_000013" "g.44575021C>T" "" "" "" "PCIF1(NM_022104.4):c.1611C>T (p.(Arg537=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983818" "0" "30" "20" "44579232" "44579232" "subst" "6.11686E-5" "01804" "PCIF1_000014" "g.44579232C>T" "" "" "" "ZNF335(NM_022095.4):c.3192G>A (p.(Ala1064=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983819" "0" "50" "20" "44592515" "44592515" "subst" "0.000204146" "01804" "ZNF335_000034" "g.44592515A>C" "" "" "" "ZNF335(NM_022095.4):c.1217T>G (p.(Val406Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043370" "0" "30" "20" "44577991" "44577991" "subst" "0.00175843" "01804" "PCIF1_000015" "g.44577991G>T" "" "" "" "ZNF335(NM_022095.4):c.3800C>A (p.(Pro1267Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043371" "0" "30" "20" "44594258" "44594258" "subst" "0.00190004" "01804" "ZNF335_000035" "g.44594258A>G" "" "" "" "ZNF335(NM_022095.4):c.1102+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043372" "0" "50" "20" "44599889" "44599889" "subst" "0" "01804" "ZNF335_000036" "g.44599889G>C" "" "" "" "ZNF335(NM_022095.4):c.161C>G (p.(Ser54Cys))" "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 ZNF335 ## Count = 45 "{{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}}" "0000169047" "00023392" "90" "3787" "0" "3787" "0" "c.3787G>T" "r.(?)" "p.(Glu1263*)" "26" "0000169062" "00023392" "90" "2744" "0" "2747" "0" "c.2744_2747del" "r.(?)" "p.(Ser915Thrfs*3)" "19" "0000328457" "00023392" "50" "7177" "0" "7177" "0" "c.*3148C>T" "r.(=)" "p.(=)" "" "0000328459" "00023392" "50" "5851" "0" "5851" "0" "c.*1822C>T" "r.(=)" "p.(=)" "" "0000328460" "00023392" "50" "5726" "0" "5726" "0" "c.*1697A>T" "r.(=)" "p.(=)" "" "0000328461" "00023392" "30" "5256" "0" "5256" "0" "c.*1227C>T" "r.(=)" "p.(=)" "" "0000328462" "00023392" "30" "5247" "0" "5247" "0" "c.*1218G>A" "r.(=)" "p.(=)" "" "0000328464" "00023392" "50" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "" "0000328465" "00023392" "50" "2953" "0" "2953" "0" "c.2953G>T" "r.(?)" "p.(Asp985Tyr)" "" "0000328466" "00023392" "50" "2572" "0" "2572" "0" "c.2572G>A" "r.(?)" "p.(Glu858Lys)" "" "0000328467" "00023392" "50" "2158" "0" "2158" "0" "c.2158C>T" "r.(?)" "p.(Arg720Cys)" "" "0000328469" "00023392" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Pro392Ser)" "" "0000328470" "00023392" "50" "912" "0" "913" "0" "c.912_913insCATCATCGTCC" "r.(?)" "p.(Asp305HisfsTer9)" "" "0000328471" "00023392" "50" "521" "-8" "521" "-8" "c.521-8A>G" "r.(=)" "p.(=)" "" "0000328472" "00023392" "50" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Glu161Gly)" "" "0000328473" "00023392" "50" "329" "0" "329" "0" "c.329G>T" "r.(?)" "p.(Ser110Ile)" "" "0000328474" "00023392" "50" "124" "0" "124" "0" "c.124G>A" "r.(?)" "p.(Ala42Thr)" "" "0000338114" "00023392" "10" "201" "10" "201" "10" "c.201+10C>G" "r.(=)" "p.(=)" "" "0000340098" "00023392" "10" "642" "0" "642" "0" "c.642C>T" "r.(?)" "p.(Ser214=)" "" "0000348122" "00023392" "50" "3158" "0" "3158" "0" "c.3158C>T" "r.(?)" "p.(Pro1053Leu)" "" "0000348915" "00023392" "10" "881" "0" "881" "0" "c.881G>C" "r.(?)" "p.(Ser294Thr)" "" "0000618175" "00023392" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Gly1170Glu)" "" "0000650795" "00023392" "30" "2167" "0" "2167" "0" "c.2167T>G" "r.(?)" "p.(Phe723Val)" "" "0000650797" "00023392" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(=)" "p.(=)" "" "0000658773" "00023392" "30" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Ala276Thr)" "" "0000667583" "00023392" "90" "3378" "0" "3379" "0" "c.3378_3379del" "r.(?)" "p.(His1126Glnfs*3)" "" "0000667598" "00023392" "90" "3332" "0" "3332" "0" "c.3332G>T" "r.(?)" "p.(Arg1111Leu)" "" "0000669677" "00023392" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Pro655Ser)" "" "0000669678" "00023392" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(=)" "p.(=)" "" "0000681623" "00023392" "30" "3753" "4" "3753" "4" "c.3753+4G>A" "r.spl?" "p.?" "" "0000681624" "00023392" "50" "3445" "0" "3445" "0" "c.3445A>G" "r.(?)" "p.(Ile1149Val)" "" "0000681625" "00023392" "30" "3017" "0" "3017" "0" "c.3017C>T" "r.(?)" "p.(Pro1006Leu)" "" "0000766030" "00023392" "50" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Cys1021Tyr)" "20" "0000787428" "00023392" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(His487Tyr)" "9" "0000809258" "00023392" "30" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481Cys)" "" "0000817851" "00023392" "70" "1997" "0" "1997" "0" "c.1997C>T" "r.(?)" "p.(Ser666Phe)" "" "0000817894" "00023392" "90" "3786" "0" "3786" "0" "c.3786T>G" "r.(?)" "p.(Tyr1262Ter)" "" "0000895346" "00023392" "50" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336Trp)" "" "0000895347" "00023392" "50" "147" "0" "152" "0" "c.147_152dup" "r.(?)" "p.(Glu50_Ala51dup)" "" "0000983817" "00023392" "50" "6600" "0" "6600" "0" "c.*2571G>A" "r.(=)" "p.(=)" "" "0000983818" "00023392" "30" "3192" "0" "3192" "0" "c.3192G>A" "r.(?)" "p.(=)" "" "0000983819" "00023392" "50" "1217" "0" "1217" "0" "c.1217T>G" "r.(?)" "p.(Val406Gly)" "" "0001043370" "00023392" "30" "3800" "0" "3800" "0" "c.3800C>A" "r.(?)" "p.(Pro1267Gln)" "" "0001043371" "00023392" "30" "1102" "9" "1102" "9" "c.1102+9T>C" "r.(=)" "p.(=)" "" "0001043372" "00023392" "50" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Ser54Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000104367" "0000169047" "0000104367" "0000169062" "0000294106" "0000650795" "0000294108" "0000650797" "0000304185" "0000667583" "0000304185" "0000667598" "0000305989" "0000669677" "0000305990" "0000669678" "0000365076" "0000766030" "0000376077" "0000787428" "0000389058" "0000817851" "0000389101" "0000817894"