### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF469) # 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}}" "ZNF469" "zinc finger protein 469" "16" "q24" "unknown" "NC_000016.9" "UD_132118213580" "" "https://www.LOVD.nl/ZNF469" "" "1" "23216" "84627" "612078" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "

Ehlers Danlos Syndrome Variant Database

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" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00085" "2024-02-13 14:32:10" "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}}" "00025860" "ZNF469" "mRNA" "000" "NM_001367624.2" "" "NP_001354553.1" "" "" "" "-487" "13283" "11862" "88449367" "88507161" "00006" "2023-10-19 09:12:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01792" "BCS1" "cornea, brittle, syndrome, type 1 (BCS-1, corneal fragility keratoglobus, blue sclerae and joint hypermobility)" "AR" "229200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "developmental delay, speech delay 0.96 (44/46), motor delay 0.87 (41/47)), hypotonia 0.84 (39/46), optic nerve atrophy 0.83 (30/36), nystagmus (0.82 (37/45),strabismus 0.77 (34/44)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-24 12:35:13" "05153" "MCPH" "microcephaly, primary, autosomal recessive (MCPH)" "" "" "" "" "" "00006" "2016-04-14 15:50:58" "00006" "2016-07-05 08:24:40" "05352" "BCS" "cornea, brittle, syndrome (BCS)" "" "" "" "" "" "00006" "2017-11-29 08:47:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF469" "01792" "ZNF469" "05352" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00143190" "" "" "" "1" "" "00006" "{PMID:Rohrbach 2013:23680354}, {PMID:Burkitt Wright 2013:23642083}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "23680354-Pat3" "00143191" "" "" "" "1" "" "00006" "{PMID:Rohrbach 2013:23680354}" "" "F" "yes" "India" "" "0" "" "" "" "23680354-Pat1" "00143192" "" "" "" "1" "" "00006" "{PMID:Rohrbach 2013:23680354}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "23680354-Pat2" "00208798" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00291568" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291569" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291570" "" "" "" "92" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291571" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304542" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304543" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304544" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311371" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 33" "00401208" "" "" "" "1" "" "00006" "{PMID:Naqvi 2022:35089071}" "5-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00457301" "" "" "" "1" "" "04693" "{PMID:Skalicka 2024:31025659}" "" "M" "no" "Czech Republic" "" "" "" "" "Czech/Polish" "" "00465844" "" "" "" "5" "" "00006" "{PMID:Alazami 2016:27023906}" "family, 5 affected" "" "" "Netherlands" "" "0" "" "" "" "Fam39" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00143190" "05352" "00143191" "05352" "00143192" "05352" "00291568" "00198" "00291569" "00198" "00291570" "00198" "00291571" "00198" "00304542" "00198" "00304543" "00198" "00304544" "00198" "00311371" "04062" "00401208" "05153" "00457301" "01792" "00465844" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01792, 04062, 05153, 05352 ## Count = 8 "{{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}}" "0000115938" "05352" "00143190" "00006" "Familial, autosomal recessive" "" "see paper, ..." "" "" "" "" "" "" "" "" "" "" "" "0000115939" "05352" "00143191" "00006" "Familial, autosomal recessive" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000115940" "05352" "00143192" "00006" "Familial, autosomal recessive" "07y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000157411" "00198" "00208798" "01164" "Unknown" "" "HP:0000365 (Hearing impairment); HP:0001252 (Muscular hypotonia); HP:0012758 (Neurodevelopmental delay); HP:0001999 (Abnormal facial shape)" "" "" "" "" "" "" "" "" "" "" "" "0000236619" "04062" "00311371" "03763" "Isolated (sporadic)" "07y" "Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968);" "?" "" "" "" "" "" "" "" "" "" "" "0000294251" "05153" "00401208" "00006" "Familial, autosomal recessive" "" "see paper; ..., small heads, mild-moderate intellectual disability, short stature, narrow and oval shaped faces, receding foreheads, large ears, prominent nose; attention deficit behavior, speech apraxia; never attended school; affected males spend time wandering streets, no concept of money, not able to perform any conceptual work, recognize relatives, find their way home, sense of self-respect, comfortable with strangers and are friendly" "" "" "" "" "" "" "" "" "MCPH5" "microcephaly" "" "0000345775" "01792" "00457301" "04693" "Familial, autosomal recessive" "26y" "Myopia (HP:0000545); decreased corneal thickness (HP:0100689); corneal stromal edema (HP:0012040); blue sclerae (HP:0000592); abnormal scleral thickness (HP:6000841\r\n); reduced visual acuity (HP:0007663); corneal rupture (HP:0100583); ectopia lentis (HP:0001083); ectopia lentis (HP:0001083\r\n); retinal detachment (HP:0000541); childhood onset sensorineural hearing impairment (HP:0011474); mitral regurgitation (HP:0001653); tricuspid regurgitation (HP:0005180); incomplete right bundle branch block (HP:6000313); kyphoscoliosis (HP:0002751); clinodactyly (HP:0030084); hallux valgus (HP:0001822); inguinal hernia (HP:0000023); carious teeth (HP:0000670)." "03y" "40y" "Myopia (HP:0000545)" "" "" "" "" "" "BCS1" "Stickler syndrome" "" "0000351291" "00198" "00465844" "00006" "Familial, autosomal recessive" "" "see paper; ..., Blue sclera, corneal fragility, joint hypermobility, severe kyphoscoliosis (some requiring spinal fusion surgery), positive Steinberg thumb sign, arachnodactyly, hallux valgus, sensorineural hearing loss, thin velvety skin, (phenylketonuria in one of the siblings who had the mildest ocular and skeletal symptoms in the group)" "" "" "" "" "" "" "" "" "BCS1" "joint laxity" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000144047" "00143190" "1" "00006" "00006" "2017-11-29 08:57:32" "" "" "SEQ" "DNA" "" "" "0000144048" "00143191" "1" "00006" "00006" "2017-11-29 09:04:15" "" "" "SEQ" "DNA" "" "" "0000144049" "00143192" "1" "00006" "00006" "2017-11-29 09:07:08" "" "" "SEQ" "DNA" "" "" "0000209847" "00208798" "1" "01164" "01164" "2018-12-17 10:13:39" "" "" "SEQ-NG" "DNA" "" "" "0000292736" "00291568" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292737" "00291569" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292738" "00291570" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292739" "00291571" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305671" "00304542" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305672" "00304543" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305673" "00304544" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312539" "00311371" "1" "03763" "03763" "2020-09-23 12:10:06" "" "" "SEQ-NG" "DNA" "" "" "0000402452" "00401208" "1" "00006" "00006" "2022-01-29 16:26:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000458926" "00457301" "1" "04693" "04693" "2024-11-06 10:01:07" "" "" "SEQ-NG-I" "DNA" "Venous blood" "Whole genome sequencing and selective analysis of BCS genes" "0000467495" "00465844" "1" "00006" "00006" "2025-06-07 12:17:17" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000144047" "ZNF469" "0000144048" "ZNF469" "0000144049" "ZNF469" "0000312539" "ZNF469" "0000458926" "PRDM1" "0000458926" "ZNF469" ## 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 = 98 "{{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}}" "0000234454" "3" "90" "16" "88500322" "88500322" "del" "0" "00006" "ZNF469_000001" "g.88500322del" "" "{PMID:Rohrbach 2013:23680354}" "" "6444delG (Gln2149Serfs*51)" "" "Germline" "" "" "0" "" "" "g.88433914del" "" "pathogenic" "" "0000234455" "3" "90" "16" "88497354" "88497354" "del" "0" "00006" "ZNF469_000002" "g.88497354del" "" "{PMID:Rohrbach 2013:23680354}" "" "3476delG (Gly1159Alafs*105)" "" "Germline" "" "" "0" "" "" "g.88430946del" "" "pathogenic" "" "0000234456" "1" "90" "16" "88499666" "88499666" "del" "0" "00006" "ZNF469_000003" "g.88499666del" "" "{PMID:Rohrbach 2013:23680354}" "" "5788delC (Gln1930Argfs*6)" "" "Germline" "" "" "0" "" "" "g.88433258del" "" "pathogenic" "" "0000234457" "2" "90" "16" "88499666" "88499666" "dup" "0" "00006" "ZNF469_000004" "g.88499666dup" "" "{PMID:Rohrbach 2013:23680354}" "" "5788dupC (Gln1930Profs*133)" "" "Germline" "" "" "0" "" "" "g.88433258dup" "" "pathogenic" "" "0000440075" "3" "70" "16" "88494338" "88494338" "del" "0" "01164" "ZNF469_000140" "g.88494338del" "" "" "" "" "ACMG grading: PVS1,PM2; differential diagnosis: Brittle cornea syndrome" "Germline" "" "" "0" "" "" "g.88427930del" "" "likely pathogenic" "ACMG" "0000649425" "1" "30" "16" "88493940" "88493940" "subst" "0.00641527" "03575" "ZNF469_000136" "g.88493940G>A" "5/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous; {DB:CLININrs145178398}" "Germline" "" "rs145178398" "0" "" "" "g.88427532G>A" "" "likely benign" "" "0000649426" "1" "30" "16" "88495575" "88495575" "subst" "0.0128388" "03575" "ZNF469_000216" "g.88495575C>T" "120/2762 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "120 heterozygous; {DB:CLININrs181785233}" "Germline" "" "rs181785233" "0" "" "" "g.88429167C>T" "" "likely benign" "" "0000649427" "1" "30" "16" "88502090" "88502090" "subst" "0.017346" "03575" "ZNF469_000102" "g.88502090G>A" "92/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "92 heterozygous; {DB:CLININrs3812955}" "Germline" "" "rs3812955" "0" "" "" "g.88435682G>A" "" "likely benign" "" "0000649428" "1" "50" "16" "88506405" "88506405" "subst" "0" "03575" "ZNF469_000217" "g.88506405G>A" "27/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs75706884}" "Germline" "" "rs75706884" "0" "" "" "g.88439997G>A" "" "VUS" "" "0000669359" "3" "30" "16" "88493940" "88493940" "subst" "0.00641527" "03575" "ZNF469_000136" "g.88493940G>A" "1/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs145178398}" "Germline" "" "rs145178398" "0" "" "" "g.88427532G>A" "" "likely benign" "" "0000669360" "3" "30" "16" "88495575" "88495575" "subst" "0.0128388" "03575" "ZNF469_000216" "g.88495575C>T" "3/2762 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs181785233}" "Germline" "" "rs181785233" "0" "" "" "g.88429167C>T" "" "likely benign" "" "0000669361" "3" "30" "16" "88502090" "88502090" "subst" "0.017346" "03575" "ZNF469_000102" "g.88502090G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs3812955}" "Germline" "" "rs3812955" "0" "" "" "g.88435682G>A" "" "likely benign" "" "0000694127" "11" "79" "16" "88501516" "88501516" "del" "0" "03763" "ZNF469_000236" "g.88501516delC" "" "{PMID:Rech 2020:32275123}" "" "" "" "Germline" "?" "" "0" "" "" "g.88435108del" "" "likely pathogenic" "" "0000694128" "0" "70" "16" "88503945" "88503945" "subst" "0" "03763" "ZNF469_000237" "g.88503945T>G" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "g.88437537T>G" "" "likely pathogenic" "" "0000836623" "3" "30" "16" "88502598" "88502598" "subst" "0.000111501" "00006" "ZNF469_000276" "g.88502598G>C" "" "{PMID:Naqvi 2022:35089071}" "" "" "" "Germline" "" "" "0" "" "" "g.88436190G>C" "" "likely benign" "" "0000854671" "0" "50" "16" "88494210" "88494210" "subst" "7.33052E-6" "01943" "ZNF469_000277" "g.88494210G>A" "" "" "" "ZNF469(NM_001367624.1):c.332G>A (p.R111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88427802G>A" "" "VUS" "" "0000854674" "0" "10" "16" "88495912" "88495912" "subst" "0.00264164" "02329" "ZNF469_000280" "g.88495912C>T" "" "" "" "ZNF469(NM_001367624.1):c.2034C>T (p.A678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88429504C>T" "" "benign" "" "0000854675" "0" "10" "16" "88496791" "88496791" "subst" "0.00449338" "02329" "ZNF469_000281" "g.88496791C>A" "" "" "" "ZNF469(NM_001367624.1):c.2913C>A (p.G971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88430383C>A" "" "benign" "" "0000854676" "0" "30" "16" "88497523" "88497523" "subst" "4.74274E-5" "02329" "ZNF469_000282" "g.88497523C>A" "" "" "" "ZNF469(NM_001367624.1):c.3645C>A (p.T1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88431115C>A" "" "likely benign" "" "0000854677" "0" "50" "16" "88498094" "88498094" "subst" "0.000609096" "01943" "ZNF469_000283" "g.88498094G>T" "" "" "" "ZNF469(NM_001367624.1):c.4216G>T (p.D1406Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88431686G>T" "" "VUS" "" "0000854678" "0" "30" "16" "88498357" "88498357" "subst" "0.000209754" "01943" "ZNF469_000284" "g.88498357G>A" "" "" "" "ZNF469(NM_001367624.1):c.4479G>A (p.P1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88431949G>A" "" "likely benign" "" "0000854679" "0" "30" "16" "88498675" "88498675" "subst" "7.58338E-5" "01943" "ZNF469_000286" "g.88498675C>T" "" "" "" "ZNF469(NM_001367624.1):c.4797C>T (p.L1599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88432267C>T" "" "likely benign" "" "0000854680" "0" "30" "16" "88499107" "88499107" "subst" "0.000242961" "01943" "ZNF469_000287" "g.88499107C>A" "" "" "" "ZNF469(NM_001367624.1):c.5229C>A (p.P1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88432699C>A" "" "likely benign" "" "0000854682" "0" "10" "16" "88499702" "88499702" "subst" "0.000714101" "02329" "ZNF469_000288" "g.88499702G>A" "" "" "" "ZNF469(NM_001367624.1):c.5824G>A (p.G1942R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88433294G>A" "" "benign" "" "0000854683" "0" "30" "16" "88499734" "88499734" "subst" "0.000727317" "02329" "ZNF469_000289" "g.88499734T>C" "" "" "" "ZNF469(NM_001367624.1):c.5856T>C (p.C1952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88433326T>C" "" "likely benign" "" "0000854684" "0" "30" "16" "88499740" "88499740" "subst" "0.000115653" "01943" "ZNF469_000290" "g.88499740C>T" "" "" "" "ZNF469(NM_001367624.1):c.5862C>T (p.P1954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88433332C>T" "" "likely benign" "" "0000854685" "0" "10" "16" "88499910" "88499910" "subst" "0.0026675" "02329" "ZNF469_000291" "g.88499910G>A" "" "" "" "ZNF469(NM_001367624.1):c.6032G>A (p.G2011D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88433502G>A" "" "benign" "" "0000854686" "0" "30" "16" "88501401" "88501401" "subst" "6.84275E-5" "01943" "ZNF469_000294" "g.88501401C>T" "" "" "" "ZNF469(NM_001367624.1):c.7523C>T (p.A2508V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88434993C>T" "" "likely benign" "" "0000854687" "0" "10" "16" "88502503" "88502503" "subst" "0.00150281" "02329" "ZNF469_000295" "g.88502503G>A" "" "" "" "ZNF469(NM_001367624.1):c.8625G>A (p.P2875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436095G>A" "" "benign" "" "0000854688" "0" "10" "16" "88502746" "88502746" "subst" "0.00143193" "02329" "ZNF469_000299" "g.88502746C>T" "" "" "" "ZNF469(NM_001367624.1):c.8868C>T (p.P2956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436338C>T" "" "benign" "" "0000854689" "0" "30" "16" "88502747" "88502747" "subst" "0.000541998" "01943" "ZNF469_000300" "g.88502747G>A" "" "" "" "ZNF469(NM_001367624.1):c.8869G>A (p.G2957S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436339G>A" "" "likely benign" "" "0000854691" "0" "50" "16" "88502952" "88502952" "subst" "6.78537E-5" "01943" "ZNF469_000301" "g.88502952G>T" "" "" "" "ZNF469(NM_001367624.1):c.9074G>T (p.R3025I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436544G>T" "" "VUS" "" "0000864959" "0" "50" "16" "88494335" "88494335" "subst" "0.000164021" "01943" "ZNF469_000278" "g.88494335C>A" "" "" "" "ZNF469(NM_001367624.1):c.457C>A (p.P153T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88427927C>A" "" "VUS" "" "0000864960" "0" "50" "16" "88495677" "88495677" "subst" "3.57143E-5" "01943" "ZNF469_000279" "g.88495677C>T" "" "" "" "ZNF469(NM_001367624.1):c.1799C>T (p.T600M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88429269C>T" "" "VUS" "" "0000864961" "0" "30" "16" "88498490" "88498490" "subst" "0.000322798" "01943" "ZNF469_000285" "g.88498490G>A" "" "" "" "ZNF469(NM_001367624.1):c.4612G>A (p.A1538T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88432082G>A" "" "likely benign" "" "0000864962" "0" "30" "16" "88499952" "88499952" "subst" "6.78933E-6" "01943" "ZNF469_000292" "g.88499952C>T" "" "" "" "ZNF469(NM_001367624.1):c.6074C>T (p.A2025V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88433544C>T" "" "likely benign" "" "0000864963" "0" "30" "16" "88500629" "88500629" "subst" "9.44032E-5" "01943" "ZNF469_000293" "g.88500629A>G" "" "" "" "ZNF469(NM_001367624.1):c.6751A>G (p.R2251G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88434221A>G" "" "likely benign" "" "0000864965" "0" "50" "16" "88502504" "88502504" "subst" "2.04865E-5" "01943" "ZNF469_000296" "g.88502504C>T" "" "" "" "ZNF469(NM_001367624.1):c.8626C>T (p.H2876Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436096C>T" "" "VUS" "" "0000864966" "0" "30" "16" "88502575" "88502575" "subst" "0" "02329" "ZNF469_000297" "g.88502575T>C" "" "" "" "ZNF469(NM_001367624.1):c.8697T>C (p.G2899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436167T>C" "" "likely benign" "" "0000864967" "0" "30" "16" "88502672" "88502672" "subst" "1.38625E-5" "01943" "ZNF469_000298" "g.88502672G>A" "" "" "" "ZNF469(NM_001367624.1):c.8794G>A (p.A2932T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436264G>A" "" "likely benign" "" "0000864968" "0" "50" "16" "88503819" "88503819" "subst" "0.000152757" "01943" "ZNF469_000302" "g.88503819A>G" "" "" "" "ZNF469(NM_001367624.1):c.9941A>G (p.D3314G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88437411A>G" "" "VUS" "" "0000864969" "0" "30" "16" "88504003" "88504003" "subst" "7.49648E-6" "01943" "ZNF469_000303" "g.88504003C>G" "" "" "" "ZNF469(NM_001367624.1):c.10125C>G (p.P3375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88437595C>G" "" "likely benign" "" "0000864970" "0" "30" "16" "88504504" "88504504" "subst" "0" "01943" "ZNF469_000304" "g.88504504G>A" "" "" "" "ZNF469(NM_001367624.1):c.10626G>A (p.E3542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438096G>A" "" "likely benign" "" "0000864971" "0" "10" "16" "88504673" "88504673" "subst" "0.000796966" "02329" "ZNF469_000305" "g.88504673G>T" "" "" "" "ZNF469(NM_001367624.1):c.10795G>T (p.A3599S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438265G>T" "" "benign" "" "0000864972" "0" "50" "16" "88504916" "88504916" "subst" "0.000119399" "01943" "ZNF469_000306" "g.88504916T>A" "" "" "" "ZNF469(NM_001367624.1):c.11038T>A (p.S3680T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438508T>A" "" "VUS" "" "0000864973" "0" "10" "16" "88505155" "88505155" "subst" "0.00101175" "02329" "ZNF469_000307" "g.88505155C>T" "" "" "" "ZNF469(NM_001367624.1):c.11277C>T (p.S3759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438747C>T" "" "benign" "" "0000893217" "0" "10" "16" "88494747" "88494747" "subst" "0.00410232" "02329" "ZNF469_000308" "g.88494747C>T" "" "" "" "ZNF469(NM_001367624.1):c.869C>T (p.A290V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88428339C>T" "" "benign" "" "0000914704" "0" "30" "16" "88503400" "88503400" "subst" "3.42812E-5" "02329" "ZNF469_000309" "g.88503400C>T" "" "" "" "ZNF469(NM_001367624.1):c.9522C>T (p.P3174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436992C>T" "" "likely benign" "" "0000914705" "0" "30" "16" "88505278" "88505278" "subst" "6.74009E-6" "02329" "ZNF469_000310" "g.88505278G>C" "" "" "" "ZNF469(NM_001367624.1):c.11400G>C (p.G3800=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438870G>C" "" "likely benign" "" "0000926359" "0" "30" "16" "88495597" "88495597" "subst" "2.17757E-5" "02329" "ZNF469_000311" "g.88495597C>T" "" "" "" "ZNF469(NM_001367624.1):c.1719C>T (p.H573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88429189C>T" "" "likely benign" "" "0000926360" "0" "30" "16" "88498357" "88498357" "subst" "0.000209754" "02329" "ZNF469_000284" "g.88498357G>A" "" "" "" "ZNF469(NM_001367624.1):c.4479G>A (p.P1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88431949G>A" "" "likely benign" "" "0000926361" "0" "30" "16" "88500457" "88500457" "subst" "8.76164E-5" "02329" "ZNF469_000312" "g.88500457G>A" "" "" "" "ZNF469(NM_001367624.1):c.6579G>A (p.P2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88434049G>A" "" "likely benign" "" "0000926362" "0" "10" "16" "88503199" "88503199" "subst" "0.00376114" "02329" "ZNF469_000313" "g.88503199G>A" "" "" "" "ZNF469(NM_001367624.1):c.9321G>A (p.P3107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88436791G>A" "" "benign" "" "0000926363" "0" "10" "16" "88505287" "88505287" "subst" "0.00642641" "02329" "ZNF469_000314" "g.88505287G>C" "" "" "" "ZNF469(NM_001367624.1):c.11409G>C (p.G3803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438879G>C" "" "benign" "" "0000930664" "0" "10" "16" "88496248" "88496248" "subst" "0.00177605" "02329" "ZNF469_000315" "g.88496248G>A" "" "" "" "ZNF469(NM_001367624.1):c.2370G>A (p.L790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88429840G>A" "" "benign" "" "0000930666" "0" "30" "16" "88504585" "88504585" "subst" "4.06918E-5" "02329" "ZNF469_000316" "g.88504585C>T" "" "" "" "ZNF469(NM_001367624.1):c.10707C>T (p.C3569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88438177C>T" "" "likely benign" "" "0000950748" "0" "30" "16" "88498747" "88498747" "subst" "0.000117468" "02329" "ZNF469_000317" "g.88498747G>A" "" "" "" "ZNF469(NM_001367624.1):c.4869G>A (p.S1623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950749" "0" "10" "16" "88504206" "88504206" "subst" "0.00441003" "02329" "ZNF469_000318" "g.88504206G>T" "" "" "" "ZNF469(NM_001367624.1):c.10328G>T (p.G3443V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968561" "0" "30" "16" "88497828" "88497828" "subst" "0.000648013" "02329" "ZNF469_000319" "g.88497828A>G" "" "" "" "ZNF469(NM_001367624.1):c.3950A>G (p.K1317R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968562" "0" "30" "16" "88502887" "88502887" "subst" "5.64597E-5" "02329" "ZNF469_000320" "g.88502887G>A" "" "" "" "ZNF469(NM_001367624.1):c.9009G>A (p.P3003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968563" "0" "50" "16" "88503395" "88503395" "subst" "0" "02327" "ZNF469_000321" "g.88503395G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982142" "0" "50" "16" "88496997" "88496997" "subst" "2.05242E-5" "01804" "ZNF469_000322" "g.88496997A>C" "" "" "" "ZNF469(NM_001367624.2):c.3119A>C (p.(Lys1040Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982143" "0" "10" "16" "88498105" "88498105" "subst" "0.00283326" "02329" "ZNF469_000323" "g.88498105G>A" "" "" "" "ZNF469(NM_001367624.1):c.4227G>A (p.P1409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982144" "0" "30" "16" "88499956" "88499956" "subst" "4.07105E-5" "02329" "ZNF469_000324" "g.88499956G>C" "" "" "" "ZNF469(NM_001367624.1):c.6078G>C (p.L2026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982145" "0" "30" "16" "88500266" "88500266" "subst" "0.000622134" "02329" "ZNF469_000325" "g.88500266C>G" "" "" "" "ZNF469(NM_001367624.1):c.6388C>G (p.L2130V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982146" "0" "10" "16" "88501683" "88501683" "subst" "0.00163766" "02329" "ZNF469_000326" "g.88501683T>C" "" "" "" "ZNF469(NM_001367624.1):c.7805T>C (p.L2602P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982147" "0" "50" "16" "88502663" "88502663" "subst" "0.000124636" "01804" "ZNF469_000327" "g.88502663G>A" "" "" "" "ZNF469(NM_001127464.1):c.8701G>A (p.(Glu2901Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982149" "0" "30" "16" "88504672" "88504672" "subst" "1.37325E-5" "02329" "ZNF469_000328" "g.88504672G>A" "" "" "" "ZNF469(NM_001367624.1):c.10794G>A (p.G3598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002654" "0" "30" "16" "88495123" "88495123" "subst" "0" "02329" "ZNF469_000329" "g.88495123G>C" "" "" "" "ZNF469(NM_001367624.1):c.1245G>C (p.G415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002656" "0" "50" "16" "88496502" "88496502" "subst" "6.92943E-6" "01804" "ZNF469_000330" "g.88496502G>T" "" "" "" "ZNF469(NM_001127464.1):c.2624G>T (p.(Gly875Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002657" "0" "50" "16" "88496987" "88496987" "subst" "5.19103E-5" "01804" "ZNF469_000331" "g.88496987A>T" "" "" "" "ZNF469(NM_001127464.1):c.3109A>T (p.(Arg1037Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002659" "0" "30" "16" "88497701" "88497701" "subst" "6.85054E-6" "01804" "ZNF469_000332" "g.88497701A>G" "" "" "" "ZNF469(NM_001127464.1):c.3739A>G (p.(Thr1247Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002661" "0" "50" "16" "88501299" "88501299" "subst" "0" "01804" "ZNF469_000333" "g.88501299G>A" "" "" "" "ZNF469(NM_001127464.1):c.7337G>A (p.(Cys2446Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002663" "0" "50" "16" "88502468" "88502468" "subst" "7.48992E-5" "01804" "ZNF469_000334" "g.88502468C>G" "" "" "" "ZNF469(NM_001127464.1):c.8506C>G (p.(Pro2836Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002667" "0" "50" "16" "88504232" "88504232" "subst" "6.56762E-5" "01804" "ZNF469_000335" "g.88504232G>A" "" "" "" "ZNF469(NM_001127464.1):c.10270G>A (p.(Gly3424Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015436" "0" "30" "16" "88494017" "88494017" "subst" "0.000400191" "02329" "ZNF469_000336" "g.88494017G>A" "" "" "" "ZNF469(NM_001367624.1):c.139G>A (p.G47S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015438" "0" "90" "16" "88494800" "88494800" "subst" "0" "02329" "ZNF469_000337" "g.88494800C>T" "" "" "" "ZNF469(NM_001367624.1):c.922C>T (p.Q308*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015439" "0" "30" "16" "88500574" "88500574" "subst" "6.06485E-5" "02329" "ZNF469_000338" "g.88500574C>T" "" "" "" "ZNF469(NM_001367624.1):c.6696C>T (p.S2232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015440" "0" "50" "16" "88505093" "88505093" "subst" "4.90705E-5" "02329" "ZNF469_000339" "g.88505093C>T" "" "" "" "ZNF469(NM_001367624.1):c.11215C>T (p.R3739C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016549" "21" "79" "16" "88495583" "88495583" "subst" "0" "04693" "ZNF469_000340" "g.88495583C>T" "" "{PMID:Skalicka 2024:31025659}" "" "" "" "Germline" "-" "" "0" "" "" "g.88429175C>T" "" "likely pathogenic (recessive)" "ACMG" "0001016550" "11" "79" "16" "88495280" "88495289" "del" "0" "04693" "ZNF469_000341" "g.88495280_88495289del" "" "{PMID:Skalicka 2024:31025659}" "" "" "" "Germline" "-" "" "0" "" "" "g.88428872_88428881del" "" "likely pathogenic (recessive)" "ACMG" "0001019462" "0" "30" "16" "88499210" "88499210" "subst" "0.000115607" "03779" "ZNF469_000247" "g.88499210C>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs528985816" "0" "" "" "" "" "likely benign" "" "0001026774" "0" "30" "16" "88495315" "88495315" "subst" "7.22596E-6" "02329" "ZNF469_000342" "g.88495315T>C" "" "" "" "ZNF469(NM_001367624.1):c.1437T>C (p.S479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026775" "0" "30" "16" "88495575" "88495575" "subst" "0.0128388" "02329" "ZNF469_000216" "g.88495575C>T" "" "" "" "ZNF469(NM_001367624.1):c.1697C>T (p.A566V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026776" "0" "30" "16" "88496595" "88496595" "subst" "0.00376758" "02329" "ZNF469_000343" "g.88496595C>T" "" "" "" "ZNF469(NM_001367624.1):c.2717C>T (p.P906L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026777" "0" "30" "16" "88496692" "88496692" "subst" "0.00737092" "02329" "ZNF469_000344" "g.88496692G>A" "" "" "" "ZNF469(NM_001367624.1):c.2814G>A (p.A938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026778" "0" "30" "16" "88498762" "88498762" "subst" "0.00188372" "02329" "ZNF469_000345" "g.88498762G>A" "" "" "" "ZNF469(NM_001367624.1):c.4884G>A (p.T1628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026780" "0" "30" "16" "88504203" "88504203" "subst" "0.00898199" "02329" "ZNF469_000346" "g.88504203G>C" "" "" "" "ZNF469(NM_001367624.1):c.10325G>C (p.R3442T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026781" "0" "30" "16" "88504239" "88504239" "subst" "0.00845773" "02329" "ZNF469_000347" "g.88504239G>A" "" "" "" "ZNF469(NM_001367624.1):c.10361G>A (p.R3454Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041418" "0" "50" "16" "88495275" "88495275" "subst" "0" "01804" "ZNF469_000348" "g.88495275G>C" "" "" "" "ZNF469(NM_001367624.2):c.1397G>C (p.(Gly466Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041421" "0" "30" "16" "88497557" "88497557" "subst" "6.74718E-6" "01804" "ZNF469_000349" "g.88497557G>A" "" "" "" "ZNF469(NM_001367624.2):c.3679G>A (p.(Glu1227Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041424" "0" "30" "16" "88500541" "88500541" "subst" "0" "02329" "ZNF469_000350" "g.88500541C>G" "" "" "" "ZNF469(NM_001367624.1):c.6663C>G (p.P2221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041425" "0" "50" "16" "88501992" "88501992" "subst" "2.02462E-5" "01804" "ZNF469_000351" "g.88501992G>T" "" "" "" "ZNF469(NM_001367624.2):c.8114G>T (p.(Gly2705Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041427" "0" "50" "16" "88504230" "88504230" "subst" "0" "01804" "ZNF469_000352" "g.88504230G>A" "" "" "" "ZNF469(NM_001367624.2):c.10352G>A (p.(Arg3451His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041428" "0" "50" "16" "88505256" "88505256" "subst" "2.02435E-5" "01804" "ZNF469_000353" "g.88505256C>T" "" "" "" "ZNF469(NM_001367624.2):c.11378C>T (p.(Pro3793Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045307" "3" "90" "16" "88502779" "88502792" "dup" "0" "00006" "ZNF469_000354" "g.88502779_88502792dup" "" "{PMID:Alazami 2016:27023906}" "" "NM_001127464:c.8817_8830dup" "" "Germline" "" "" "0" "" "" "g.88436371_88436384dup" "" "pathogenic (recessive)" "" "0001055701" "0" "50" "16" "88498634" "88498634" "subst" "0" "01804" "ZNF469_000355" "g.88498634A>G" "" "" "" "ZNF469(NM_001367624.2):c.4756A>G (p.(Arg1586Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055702" "0" "50" "16" "88504604" "88504604" "subst" "0" "01804" "ZNF469_000356" "g.88504604G>C" "" "" "" "ZNF469(NM_001367624.2):c.10726G>C (p.(Glu3576Gln))" "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 ZNF469 ## Count = 98 "{{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}}" "0000234454" "00025860" "90" "6444" "0" "6444" "0" "c.6444del" "r.(?)" "p.(Gln2149SerfsTer51)" "2" "0000234455" "00025860" "90" "3476" "0" "3476" "0" "c.3476del" "r.(?)" "p.(Gly1159AlafsTer105)" "2" "0000234456" "00025860" "90" "5788" "0" "5788" "0" "c.5788del" "r.(?)" "p.(Gln1930ArgfsTer6)" "2" "0000234457" "00025860" "90" "5788" "0" "5788" "0" "c.5788dup" "r.(?)" "p.(Gln1930ProfsTer133)" "2" "0000440075" "00025860" "70" "460" "0" "460" "0" "c.460del" "r.(?)" "p.(Gln154ArgfsTer192)" "" "0000649425" "00025860" "30" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21His)" "" "0000649426" "00025860" "30" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Ala566Val)" "" "0000649427" "00025860" "30" "8212" "0" "8212" "0" "c.8212G>A" "r.(?)" "p.(Ala2738Thr)" "" "0000649428" "00025860" "50" "12527" "0" "12527" "0" "c.*665G>A" "r.(=)" "p.?" "" "0000669359" "00025860" "30" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21His)" "" "0000669360" "00025860" "30" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Ala566Val)" "" "0000669361" "00025860" "30" "8212" "0" "8212" "0" "c.8212G>A" "r.(?)" "p.(Ala2738Thr)" "" "0000694127" "00025860" "79" "7638" "0" "7638" "0" "c.7638del" "r.(?)" "p.(Ser2547AlafsTer37)" "" "0000694128" "00025860" "70" "10067" "0" "10067" "0" "c.10067T>G" "r.(?)" "p.(Leu3356Arg)" "" "0000836623" "00025860" "30" "8720" "0" "8720" "0" "c.8720G>C" "r.(?)" "p.(Arg2907Pro)" "" "0000854671" "00025860" "50" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Lys)" "" "0000854674" "00025860" "10" "2034" "0" "2034" "0" "c.2034C>T" "r.(?)" "p.(Ala678=)" "" "0000854675" "00025860" "10" "2913" "0" "2913" "0" "c.2913C>A" "r.(?)" "p.(Gly971=)" "" "0000854676" "00025860" "30" "3645" "0" "3645" "0" "c.3645C>A" "r.(?)" "p.(Thr1215=)" "" "0000854677" "00025860" "50" "4216" "0" "4216" "0" "c.4216G>T" "r.(?)" "p.(Asp1406Tyr)" "" "0000854678" "00025860" "30" "4479" "0" "4479" "0" "c.4479G>A" "r.(?)" "p.(Pro1493=)" "" "0000854679" "00025860" "30" "4797" "0" "4797" "0" "c.4797C>T" "r.(?)" "p.(Leu1599=)" "" "0000854680" "00025860" "30" "5229" "0" "5229" "0" "c.5229C>A" "r.(?)" "p.(Pro1743=)" "" "0000854682" "00025860" "10" "5824" "0" "5824" "0" "c.5824G>A" "r.(?)" "p.(Gly1942Arg)" "" "0000854683" "00025860" "30" "5856" "0" "5856" "0" "c.5856T>C" "r.(?)" "p.(Cys1952=)" "" "0000854684" "00025860" "30" "5862" "0" "5862" "0" "c.5862C>T" "r.(?)" "p.(Pro1954=)" "" "0000854685" "00025860" "10" "6032" "0" "6032" "0" "c.6032G>A" "r.(?)" "p.(Gly2011Asp)" "" "0000854686" "00025860" "30" "7523" "0" "7523" "0" "c.7523C>T" "r.(?)" "p.(Ala2508Val)" "" "0000854687" "00025860" "10" "8625" "0" "8625" "0" "c.8625G>A" "r.(?)" "p.(Pro2875=)" "" "0000854688" "00025860" "10" "8868" "0" "8868" "0" "c.8868C>T" "r.(?)" "p.(Pro2956=)" "" "0000854689" "00025860" "30" "8869" "0" "8869" "0" "c.8869G>A" "r.(?)" "p.(Gly2957Ser)" "" "0000854691" "00025860" "50" "9074" "0" "9074" "0" "c.9074G>T" "r.(?)" "p.(Arg3025Ile)" "" "0000864959" "00025860" "50" "457" "0" "457" "0" "c.457C>A" "r.(?)" "p.(Pro153Thr)" "" "0000864960" "00025860" "50" "1799" "0" "1799" "0" "c.1799C>T" "r.(?)" "p.(Thr600Met)" "" "0000864961" "00025860" "30" "4612" "0" "4612" "0" "c.4612G>A" "r.(?)" "p.(Ala1538Thr)" "" "0000864962" "00025860" "30" "6074" "0" "6074" "0" "c.6074C>T" "r.(?)" "p.(Ala2025Val)" "" "0000864963" "00025860" "30" "6751" "0" "6751" "0" "c.6751A>G" "r.(?)" "p.(Arg2251Gly)" "" "0000864965" "00025860" "50" "8626" "0" "8626" "0" "c.8626C>T" "r.(?)" "p.(His2876Tyr)" "" "0000864966" "00025860" "30" "8697" "0" "8697" "0" "c.8697T>C" "r.(?)" "p.(Gly2899=)" "" "0000864967" "00025860" "30" "8794" "0" "8794" "0" "c.8794G>A" "r.(?)" "p.(Ala2932Thr)" "" "0000864968" "00025860" "50" "9941" "0" "9941" "0" "c.9941A>G" "r.(?)" "p.(Asp3314Gly)" "" "0000864969" "00025860" "30" "10125" "0" "10125" "0" "c.10125C>G" "r.(?)" "p.(Pro3375=)" "" "0000864970" "00025860" "30" "10626" "0" "10626" "0" "c.10626G>A" "r.(?)" "p.(Glu3542=)" "" "0000864971" "00025860" "10" "10795" "0" "10795" "0" "c.10795G>T" "r.(?)" "p.(Ala3599Ser)" "" "0000864972" "00025860" "50" "11038" "0" "11038" "0" "c.11038T>A" "r.(?)" "p.(Ser3680Thr)" "" "0000864973" "00025860" "10" "11277" "0" "11277" "0" "c.11277C>T" "r.(?)" "p.(Ser3759=)" "" "0000893217" "00025860" "10" "869" "0" "869" "0" "c.869C>T" "r.(?)" "p.(Ala290Val)" "" "0000914704" "00025860" "30" "9522" "0" "9522" "0" "c.9522C>T" "r.(?)" "p.(Pro3174=)" "" "0000914705" "00025860" "30" "11400" "0" "11400" "0" "c.11400G>C" "r.(?)" "p.(Gly3800=)" "" "0000926359" "00025860" "30" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(His573=)" "" "0000926360" "00025860" "30" "4479" "0" "4479" "0" "c.4479G>A" "r.(?)" "p.(Pro1493=)" "" "0000926361" "00025860" "30" "6579" "0" "6579" "0" "c.6579G>A" "r.(?)" "p.(Pro2193=)" "" "0000926362" "00025860" "10" "9321" "0" "9321" "0" "c.9321G>A" "r.(?)" "p.(Pro3107=)" "" "0000926363" "00025860" "10" "11409" "0" "11409" "0" "c.11409G>C" "r.(?)" "p.(Gly3803=)" "" "0000930664" "00025860" "10" "2370" "0" "2370" "0" "c.2370G>A" "r.(?)" "p.(Leu790=)" "" "0000930666" "00025860" "30" "10707" "0" "10707" "0" "c.10707C>T" "r.(?)" "p.(Cys3569=)" "" "0000950748" "00025860" "30" "4869" "0" "4869" "0" "c.4869G>A" "r.(?)" "p.(Ser1623=)" "" "0000950749" "00025860" "10" "10328" "0" "10328" "0" "c.10328G>T" "r.(?)" "p.(Gly3443Val)" "" "0000968561" "00025860" "30" "3950" "0" "3950" "0" "c.3950A>G" "r.(?)" "p.(Lys1317Arg)" "" "0000968562" "00025860" "30" "9009" "0" "9009" "0" "c.9009G>A" "r.(?)" "p.(Pro3003=)" "" "0000968563" "00025860" "50" "9517" "0" "9517" "0" "c.9517G>A" "r.(?)" "p.(Gly3173Arg)" "" "0000982142" "00025860" "50" "3119" "0" "3119" "0" "c.3119A>C" "r.(?)" "p.(Lys1040Thr)" "" "0000982143" "00025860" "10" "4227" "0" "4227" "0" "c.4227G>A" "r.(?)" "p.(Pro1409=)" "" "0000982144" "00025860" "30" "6078" "0" "6078" "0" "c.6078G>C" "r.(?)" "p.(Leu2026=)" "" "0000982145" "00025860" "30" "6388" "0" "6388" "0" "c.6388C>G" "r.(?)" "p.(Leu2130Val)" "" "0000982146" "00025860" "10" "7805" "0" "7805" "0" "c.7805T>C" "r.(?)" "p.(Leu2602Pro)" "" "0000982147" "00025860" "50" "8785" "0" "8785" "0" "c.8785G>A" "r.(?)" "p.(Glu2929Lys)" "" "0000982149" "00025860" "30" "10794" "0" "10794" "0" "c.10794G>A" "r.(?)" "p.(Gly3598=)" "" "0001002654" "00025860" "30" "1245" "0" "1245" "0" "c.1245G>C" "r.(?)" "p.(Gly415=)" "" "0001002656" "00025860" "50" "2624" "0" "2624" "0" "c.2624G>T" "r.(?)" "p.(Gly875Val)" "" "0001002657" "00025860" "50" "3109" "0" "3109" "0" "c.3109A>T" "r.(?)" "p.(Arg1037Trp)" "" "0001002659" "00025860" "30" "3823" "0" "3823" "0" "c.3823A>G" "r.(?)" "p.(Thr1275Ala)" "" "0001002661" "00025860" "50" "7421" "0" "7421" "0" "c.7421G>A" "r.(?)" "p.(Cys2474Tyr)" "" "0001002663" "00025860" "50" "8590" "0" "8590" "0" "c.8590C>G" "r.(?)" "p.(Pro2864Ala)" "" "0001002667" "00025860" "50" "10354" "0" "10354" "0" "c.10354G>A" "r.(?)" "p.(Gly3452Ser)" "" "0001015436" "00025860" "30" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Ser)" "" "0001015438" "00025860" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Gln308*)" "" "0001015439" "00025860" "30" "6696" "0" "6696" "0" "c.6696C>T" "r.(?)" "p.(Ser2232=)" "" "0001015440" "00025860" "50" "11215" "0" "11215" "0" "c.11215C>T" "r.(?)" "p.(Arg3739Cys)" "" "0001016549" "00025860" "79" "1705" "0" "1705" "0" "c.1705C>T" "r.?" "p.(Gln569Ter)" "3" "0001016550" "00025860" "79" "1402" "0" "1411" "0" "c.1402_1411del" "r.?" "p.(Pro468AlafsTer31)" "3" "0001019462" "00025860" "30" "5332" "0" "5332" "0" "c.5332C>A" "r.(?)" "p.(Pro1778Thr)" "" "0001026774" "00025860" "30" "1437" "0" "1437" "0" "c.1437T>C" "r.(?)" "p.(Ser479=)" "" "0001026775" "00025860" "30" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Ala566Val)" "" "0001026776" "00025860" "30" "2717" "0" "2717" "0" "c.2717C>T" "r.(?)" "p.(Pro906Leu)" "" "0001026777" "00025860" "30" "2814" "0" "2814" "0" "c.2814G>A" "r.(?)" "p.(Ala938=)" "" "0001026778" "00025860" "30" "4884" "0" "4884" "0" "c.4884G>A" "r.(?)" "p.(Thr1628=)" "" "0001026780" "00025860" "30" "10325" "0" "10325" "0" "c.10325G>C" "r.(?)" "p.(Arg3442Thr)" "" "0001026781" "00025860" "30" "10361" "0" "10361" "0" "c.10361G>A" "r.(?)" "p.(Arg3454Gln)" "" "0001041418" "00025860" "50" "1397" "0" "1397" "0" "c.1397G>C" "r.(?)" "p.(Gly466Ala)" "" "0001041421" "00025860" "30" "3679" "0" "3679" "0" "c.3679G>A" "r.(?)" "p.(Glu1227Lys)" "" "0001041424" "00025860" "30" "6663" "0" "6663" "0" "c.6663C>G" "r.(?)" "p.(Pro2221=)" "" "0001041425" "00025860" "50" "8114" "0" "8114" "0" "c.8114G>T" "r.(?)" "p.(Gly2705Val)" "" "0001041427" "00025860" "50" "10352" "0" "10352" "0" "c.10352G>A" "r.(?)" "p.(Arg3451His)" "" "0001041428" "00025860" "50" "11378" "0" "11378" "0" "c.11378C>T" "r.(?)" "p.(Pro3793Leu)" "" "0001045307" "00025860" "90" "8901" "0" "8914" "0" "c.8901_8914dup" "r.(?)" "p.(Glu2972GlyfsTer50)" "" "0001055701" "00025860" "50" "4756" "0" "4756" "0" "c.4756A>G" "r.(?)" "p.(Arg1586Gly)" "" "0001055702" "00025860" "50" "10726" "0" "10726" "0" "c.10726G>C" "r.(?)" "p.(Glu3576Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000144047" "0000234454" "0000144048" "0000234455" "0000144049" "0000234456" "0000144049" "0000234457" "0000209847" "0000440075" "0000292736" "0000649425" "0000292737" "0000649426" "0000292738" "0000649427" "0000292739" "0000649428" "0000305671" "0000669359" "0000305672" "0000669360" "0000305673" "0000669361" "0000312539" "0000694127" "0000312539" "0000694128" "0000402452" "0000836623" "0000458926" "0001016549" "0000458926" "0001016550" "0000467495" "0001045307"