### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF711) # 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}}" "ZNF711" "zinc finger protein 711" "X" "q21.1" "unknown" "NG_012535.1" "UD_132084394039" "" "http://www.LOVD.nl/ZNF711" "" "1" "13128" "7552" "314990" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ZNF711_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2016-05-09 21:38:19" "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}}" "00001032" "ZNF711" "zinc finger protein 711" "001" "NM_021998.4" "" "NP_068838.3" "" "" "" "-347" "3820" "2286" "84498997" "84528368" "00000" "2012-09-13 13:08:35" "" "" ## 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" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00831" "MRX97" "mental retardation, X-linked, type 97 (MRX97)" "XL" "300803" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 17:00:09" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF711" "00139" "ZNF711" "00831" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00088189" "" "" "" "1" "" "01826" "{PMID:van der Werf 2016:27993705}, {DOI:van der Werf 2016:10.1016/j.gene.2016.12.013}" "" "M" "no" "" "" "0" "" "" "" "" "00088190" "" "" "" "1" "" "01826" "{PMID:van der Werf 2016:27993705}, {DOI:van der Werf 2016:10.1016/j.gene.2016.12.013}" "" "M" "no" "" "" "0" "" "" "" "" "00089124" "" "" "" "5" "" "00124" "{PMID:Tarpey 2009:19377476}" "3-generation family, 5 affecteds (5M), unaffected heterozygous carrier females" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377203-Pat?" "00089125" "" "" "" "6" "" "00124" "{PMID:Tarpey 2009:19377476}" "3-generation family, 6 affected males, Unaffected heterozygous carrier females" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377204-Pat?" "00089126" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377205-Pat?" "00089127" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377206-Pat?" "00089128" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377207-Pat?" "00089129" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377208-Pat?" "00089130" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377209-Pat?" "00089131" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377210-Pat?" "00089132" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377211-Pat?" "00089133" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377212-Pat?" "00089134" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377213-Pat?" "00089135" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377214-Pat?" "00089136" "" "" "" "8" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377215-Pat?" "00183133" "" "" "" "6" "" "00006" "{PMID:Hu 2016:25644381}" "family, 6 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamN10" "00391869" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "051P" "00436416" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "240363" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00088189" "00187" "00088190" "00187" "00089124" "00187" "00089125" "00187" "00089131" "00187" "00089132" "00187" "00089133" "00187" "00089134" "00187" "00089135" "00187" "00089136" "00187" "00183133" "00187" "00391869" "00139" "00391869" "00831" "00436416" "00831" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00831, 01157 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000067720" "00187" "00088190" "01826" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068518" "00187" "00089124" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068519" "00187" "00089125" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068520" "00187" "00089131" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068521" "00187" "00089132" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068522" "00187" "00089133" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068523" "00187" "00089134" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068524" "00187" "00089135" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000068525" "00187" "00089136" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000073542" "00187" "00088189" "01826" "Familial, X-linked" "" "HP:0002342 Intellectual disability, moderate\r\nHP:0000750 Speech delay\r\nHP:0001270 Motor delay\r\nHP:0000729 Autistic behavior\r\nHP:0002019 Constipation\r\nHP:0000283 Broad face\r\nHP:0000664 Synophris\r\nHP:0000455 Broad nasal tip" "" "" "" "" "" "" "" "" "" "" "0000073543" "00187" "00088190" "01826" "Familial, X-linked" "" "HP:0001256 Intellectual disability, mild\r\nHP:0000750 Speech delay\r\nHP:0000283 Broad face\r\nHP:0000455 Broad nasal tip" "" "" "" "" "" "" "" "" "" "" "0000143887" "00187" "00183133" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000326597" "00831" "00436416" "01164" "Unknown" "05y" "Intellectual disability, Absent speech, High forehead, Epicanthus, Tall stature, High palate, Pectus excavatum" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000088332" "00088189" "1" "01826" "01826" "2016-11-24 15:07:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000088333" "00088190" "1" "01826" "01826" "2016-11-24 15:26:49" "" "" "SEQ-NG" "DNA" "" "" "0000089270" "00089124" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089271" "00089125" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089272" "00089126" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089273" "00089127" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089274" "00089128" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089275" "00089129" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089276" "00089130" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089277" "00089131" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089278" "00089132" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089279" "00089133" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089280" "00089134" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089281" "00089135" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000089282" "00089136" "1" "00124" "00006" "2009-04-08 14:00:00" "" "" "SEQ" "DNA" "" "" "0000184091" "00183133" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000393110" "00391869" "1" "02494" "02494" "2021-11-19 12:51:25" "" "" "SEQ-NG" "DNA" "" "WES" "0000437899" "00436416" "1" "01164" "01164" "2023-09-14 16:36:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000089270" "ZNF711" "0000089271" "ZNF711" "0000089272" "ZNF711" "0000089273" "ZNF711" "0000089274" "ZNF711" "0000089275" "ZNF711" "0000089276" "ZNF711" "0000089277" "ZNF711" "0000089278" "ZNF711" "0000089279" "ZNF711" "0000089280" "ZNF711" "0000089281" "ZNF711" "0000089282" "ZNF711" "0000184091" "ZNF711" "0000437899" "ZNF711" ## 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 = 47 "{{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}}" "0000007237" "20" "30" "X" "84520143" "84520143" "subst" "0.0181362" "00037" "ZNF711_000002" "g.84520143A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85265137A>G" "" "likely benign" "" "0000009337" "20" "30" "X" "84520143" "84520143" "subst" "0.0181362" "00037" "ZNF711_000002" "g.84520143A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85265137A>G" "" "likely benign" "" "0000009338" "0" "30" "X" "84525301" "84525301" "dup" "0" "00037" "ZNF711_000001" "g.84525301dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.85270295dup" "" "likely benign" "" "0000145999" "21" "70" "X" "84526602" "84526602" "del" "0" "01826" "ZNF711_000003" "g.84526602del" "" "{PMID:van der Werf 2016:27993705}, {DOI:van der Werf 2016:10.1016/j.gene.2016.12.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85271596del" "" "likely pathogenic" "" "0000146000" "20" "70" "X" "84519389" "84519389" "subst" "0" "01826" "ZNF711_000004" "g.84519389T>C" "" "{PMID:van der Werf 2016:27993705}, {DOI:van der Werf 2016:10.1016/j.gene.2016.12.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85264383T>C" "" "likely pathogenic" "" "0000147199" "1" "90" "X" "84526675" "84526676" "del" "0" "00124" "ZNF711_000005" "g.84526675_84526676del" "1/208 cases" "{PMID:Tarpey 2009:19377476}, {OMIM314990:0001}" "" "2157_2158delTG (719fs*1)" "NOTE: variant description corrected" "Germline" "yes" "" "0" "" "" "g.85271669_85271670del" "" "pathogenic" "" "0000147200" "1" "90" "X" "84526091" "84526091" "subst" "0" "00124" "ZNF711_000006" "g.84526091C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}, {OMIM314990:0002}" "" "1573C>T (R525*)" "NOTE: variant description corrected" "Germline" "yes" "" "0" "" "" "g.85271085C>T" "" "pathogenic" "" "0000147201" "1" "50" "X" "84526119" "84526119" "subst" "2.82115E-5" "00124" "ZNF711_000007" "g.84526119T>C" "1 control" "{PMID:Tarpey 2009:19377476}" "" "1601T>C (M534T)" "" "Germline" "" "" "0" "" "" "g.85271113T>C" "" "VUS" "" "0000147202" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?A>G" "1 control" "{PMID:Tarpey 2009:19377476}" "" "601A>G (T201A)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000147203" "1" "50" "X" "84526516" "84526516" "subst" "0.00120109" "00124" "ZNF711_000010" "g.84526516A>G" "1 control" "{PMID:Tarpey 2009:19377476}" "" "1998A>G (T666T)" "" "Germline" "" "" "0" "" "" "g.85271510A>G" "" "VUS" "" "0000147204" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?G>A" "1 control" "{PMID:Tarpey 2009:19377476}" "" "408G>A (T136T)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000147205" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?A>G" "3/1129 chromosomes" "{PMID:Tarpey 2009:19377476}" "" "738A>G (T246T)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000147206" "1" "50" "X" "84526414" "84526414" "subst" "0" "00124" "ZNF711_000009" "g.84526414G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1896G>T (E632D)" "" "Germline" "" "" "0" "" "" "g.85271408G>T" "" "VUS" "" "0000147207" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "356G>A (G119E)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000147208" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "761A>G (H254R)" "variant not possible" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000147209" "1" "50" "X" "84526350" "84526350" "subst" "5.66951E-6" "00124" "ZNF711_000008" "g.84526350A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1832A>G (N611S)" "" "Germline" "" "" "0" "" "" "g.85271344A>G" "" "VUS" "" "0000147210" "1" "50" "X" "84526516" "84526516" "subst" "0.00120109" "00124" "ZNF711_000010" "g.84526516A>G" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "1998A>G (T666T)" "" "Germline" "" "" "0" "" "" "g.85271510A>G" "" "VUS" "" "0000147211" "1" "50" "X" "1" "4294967295" "" "0" "00124" "ZNF711_000000" "g.?A>G" "8/208 cases" "{PMID:Tarpey 2009:19377476}" "" "738A>G (T246T)" "variant not possible" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000255105" "0" "30" "X" "84526516" "84526516" "subst" "0.00120109" "01943" "ZNF711_000010" "g.84526516A>G" "" "" "" "ZNF711(NM_021998.4):c.1968A>G (p.T656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85271510A>G" "" "likely benign" "" "0000315551" "0" "30" "X" "84501033" "84501033" "subst" "0" "02326" "ZNF711_000011" "g.84501033C>T" "" "" "" "ZNF711(NM_021998.5):c.-27+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85246027C>T" "" "likely benign" "" "0000334805" "0" "50" "X" "84502546" "84502546" "subst" "0.000119792" "01804" "ZNF711_000012" "g.84502546T>G" "" "" "" "ZNF711(NM_021998.4):c.-26-7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85247540T>G" "" "VUS" "" "0000334807" "0" "30" "X" "84526350" "84526350" "subst" "5.66951E-6" "01804" "ZNF711_000008" "g.84526350A>G" "" "" "" "ZNF711(NM_021998.4):c.1802A>G (p.(Asn601Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85271344A>G" "" "likely benign" "" "0000346503" "0" "30" "X" "84526338" "84526338" "subst" "1.13714E-5" "02327" "ZNF711_000016" "g.84526338A>G" "" "" "" "ZNF711(NM_001330574.2):c.1928A>G (p.H643R), ZNF711(NM_021998.4):c.1790A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85271332A>G" "" "likely benign" "" "0000408060" "21" "90" "X" "84519389" "84519389" "subst" "0" "00006" "ZNF711_000004" "g.84519389T>C" "" "{PMID:Hu 2016:25644381}" "" "ZNF711 I244T" "" "Germline" "yes" "" "0" "" "" "g.85264383T>C" "" "pathogenic" "" "0000577698" "0" "30" "X" "84502545" "84502545" "subst" "6.00053E-6" "01804" "ZNF711_000017" "g.84502545T>A" "" "" "" "ZNF711(NM_021998.4):c.-26-8T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85247539T>A" "" "likely benign" "" "0000577699" "0" "30" "X" "84510654" "84510654" "subst" "0.000151044" "01943" "ZNF711_000018" "g.84510654A>G" "" "" "" "ZNF711(NM_001330574.1):c.469A>G (p.M157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85255648A>G" "" "likely benign" "" "0000577701" "0" "30" "X" "84510696" "84510696" "subst" "5.59801E-6" "01943" "ZNF711_000020" "g.84510696A>G" "" "" "" "ZNF711(NM_001330574.1):c.511A>G (p.T171A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85255690A>G" "" "likely benign" "" "0000577702" "0" "30" "X" "84510769" "84510771" "dup" "0" "01943" "ZNF711_000021" "g.84510769_84510771dup" "" "" "" "ZNF711(NM_021998.4):c.584_586dupATG (p.D195dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85255763_85255765dup" "" "likely benign" "" "0000577704" "0" "90" "X" "84525954" "84525955" "ins" "0" "01943" "ZNF711_000023" "g.84525954_84525955insTCTCTTATTTTAAG" "" "" "" "ZNF711(NM_021998.4):c.1406_1407insTCTCTTATTTTAAG (p.R469Sfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85270948_85270949insTCTCTTATTTTAAG" "" "pathogenic" "" "0000577705" "0" "30" "X" "84526283" "84526283" "subst" "1.71528E-5" "01943" "ZNF711_000024" "g.84526283C>T" "" "" "" "ZNF711(NM_001330574.1):c.1873C>T (p.R625C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85271277C>T" "" "likely benign" "" "0000577706" "0" "50" "X" "84526287" "84526287" "subst" "0" "02327" "ZNF711_000025" "g.84526287A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85271281A>G" "" "VUS" "" "0000619939" "0" "50" "X" "84525067" "84525067" "subst" "5.60636E-6" "01804" "ZNF711_000026" "g.84525067A>T" "" "" "" "ZNF711(NM_021998.4):c.1023A>T (p.(Gln341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85270061A>T" "" "VUS" "" "0000619940" "0" "50" "X" "84525747" "84525747" "subst" "0" "02327" "ZNF711_000027" "g.84525747G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85270741G>A" "" "VUS" "" "0000619941" "0" "50" "X" "84526284" "84526284" "subst" "0" "01943" "ZNF711_000015" "g.84526284G>A" "" "" "" "ZNF711(NM_021998.4):c.1736G>A (p.R579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85271278G>A" "" "VUS" "" "0000619942" "0" "70" "X" "84526712" "84526712" "subst" "0" "02327" "ZNF711_000028" "g.84526712C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85271706C>T" "" "likely pathogenic" "" "0000682679" "0" "90" "X" "84526664" "84526664" "subst" "0" "02329" "ZNF711_000029" "g.84526664T>C" "" "" "" "ZNF711(NM_001330574.2):c.2254T>C (p.C752R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682680" "0" "70" "X" "84526727" "84526727" "subst" "0" "01804" "ZNF711_000030" "g.84526727C>T" "" "" "" "ZNF711(NM_021998.4):c.2179C>T (p.(His727Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000693769" "0" "50" "X" "84502603" "84502603" "subst" "0" "02325" "ZNF711_000031" "g.84502603G>C" "" "" "" "ZNF711(NM_021998.5):c.25G>C (p.G9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693770" "0" "30" "X" "84510422" "84510422" "subst" "0.000106272" "01943" "ZNF711_000032" "g.84510422G>A" "" "" "" "ZNF711(NM_001330574.1):c.237G>A (p.E79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729240" "0" "50" "X" "84520203" "84520203" "subst" "0" "01943" "ZNF711_000033" "g.84520203G>C" "" "" "" "ZNF711(NM_001330574.1):c.858G>C (p.Q286H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729241" "0" "30" "X" "84522288" "84522288" "subst" "0" "01943" "ZNF711_000034" "g.84522288C>T" "" "" "" "ZNF711(NM_001330574.1):c.921C>T (p.C307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810704" "0" "30" "X" "84526360" "84526360" "subst" "0" "01943" "ZNF711_000035" "g.84526360C>T" "" "" "" "ZNF711(NM_001330574.1):c.1950C>T (p.D650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823724" "21" "50" "X" "84526629" "84526629" "subst" "0" "02494" "ZNF711_000036" "g.84526629A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000856824" "0" "50" "X" "84526694" "84526694" "subst" "0" "02327" "ZNF711_000037" "g.84526694G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867597" "0" "90" "X" "84519389" "84519389" "subst" "0" "02327" "ZNF711_000004" "g.84519389T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896384" "0" "50" "X" "84526338" "84526338" "subst" "1.13714E-5" "02329" "ZNF711_000016" "g.84526338A>G" "" "" "" "ZNF711(NM_001330574.2):c.1928A>G (p.H643R), ZNF711(NM_021998.4):c.1790A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933345" "3" "70" "X" "84526709" "84526709" "subst" "0" "01164" "ZNF711_000038" "g.84526709C>T" "" "" "" "NM_001330574.2:c.2299C>T ; p.(Arg767*)" "ACMG: PVS1_STR, PS4_SUP, PM2_SUP" "Germline" "?" "" "" "" "" "g.85271703C>T" "VCV002430809.1" "likely pathogenic (recessive)" "ACMG" ## 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 ZNF711 ## Count = 47 "{{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}}" "0000007237" "00001032" "30" "798" "0" "798" "0" "c.798A>G" "r.(=)" "p.(Thr266=)" "6" "0000009337" "00001032" "30" "798" "0" "798" "0" "c.798A>G" "r.(?)" "p.(Thr266=)" "6" "0000009338" "00001032" "30" "1108" "149" "1108" "149" "c.1108+149dup" "r.(?)" "p.(=)" "8i" "0000145999" "00001032" "70" "2054" "0" "2054" "0" "c.2054del" "r.(2054del)" "p.(Phe685Serfs*7)" "9" "0000146000" "00001032" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "5" "0000147199" "00001032" "90" "2127" "0" "2128" "0" "c.2127_2128del" "r.(?)" "p.(Cys709*)" "9" "0000147200" "00001032" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Arg515*)" "9" "0000147201" "00001032" "50" "1571" "0" "1571" "0" "c.1571T>C" "r.(?)" "p.(Met524Thr)" "9" "0000147202" "00001032" "50" "0" "0" "0" "0" "c.(?)A>G" "r.(?)" "p.(Thr?Ala)" "" "0000147203" "00001032" "50" "1968" "0" "1968" "0" "c.1968A>G" "r.(?)" "p.(Thr656=)" "9" "0000147204" "00001032" "50" "0" "0" "0" "0" "c.(?)G>A" "r.(?)" "p.(Thr?=)" "" "0000147205" "00001032" "50" "0" "0" "0" "0" "c.(?)A>G" "r.(?)" "p.(Thr?=)" "" "0000147206" "00001032" "50" "1866" "0" "1866" "0" "c.1866G>T" "r.(?)" "p.(Glu622Asp)" "9" "0000147207" "00001032" "50" "0" "0" "0" "0" "c.(?)G>A" "r.(?)" "p.(Gly?Asp)" "" "0000147208" "00001032" "50" "0" "0" "0" "0" "c.(?)A>G" "r.(?)" "p.(His?Arg)" "" "0000147209" "00001032" "50" "1802" "0" "1802" "0" "c.1802A>G" "r.(?)" "p.(Asn601Ser)" "9" "0000147210" "00001032" "50" "1968" "0" "1968" "0" "c.1968A>G" "r.(?)" "p.(Thr656=)" "9" "0000147211" "00001032" "00" "0" "0" "0" "0" "c.(?)A>G" "r.(=)" "p.(Thr?=)" "" "0000255105" "00001032" "30" "1968" "0" "1968" "0" "c.1968A>G" "r.(?)" "p.(Thr656=)" "" "0000315551" "00001032" "30" "-27" "5" "-27" "5" "c.-27+5C>T" "r.spl?" "p.?" "" "0000334805" "00001032" "50" "-26" "-7" "-26" "-7" "c.-26-7T>G" "r.(=)" "p.(=)" "" "0000334807" "00001032" "30" "1802" "0" "1802" "0" "c.1802A>G" "r.(?)" "p.(Asn601Ser)" "" "0000346503" "00001032" "30" "1790" "0" "1790" "0" "c.1790A>G" "r.(?)" "p.(His597Arg)" "" "0000408060" "00001032" "00" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "" "0000577698" "00001032" "30" "-26" "-8" "-26" "-8" "c.-26-8T>A" "r.(=)" "p.(=)" "" "0000577699" "00001032" "30" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Met157Val)" "" "0000577701" "00001032" "30" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Thr171Ala)" "" "0000577702" "00001032" "30" "584" "0" "586" "0" "c.584_586dup" "r.(?)" "p.(Asp195dup)" "" "0000577704" "00001032" "90" "1406" "0" "1407" "0" "c.1406_1407insTCTCTTATTTTAAG" "r.(?)" "p.(Arg469SerfsTer5)" "" "0000577705" "00001032" "30" "1735" "0" "1735" "0" "c.1735C>T" "r.(?)" "p.(Arg579Cys)" "" "0000577706" "00001032" "50" "1739" "0" "1739" "0" "c.1739A>G" "r.(?)" "p.(His580Arg)" "" "0000619939" "00001032" "50" "1023" "0" "1023" "0" "c.1023A>T" "r.(?)" "p.(Gln341His)" "" "0000619940" "00001032" "50" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400Lys)" "" "0000619941" "00001032" "50" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Arg579His)" "" "0000619942" "00001032" "70" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(His722Tyr)" "" "0000682679" "00001032" "90" "2116" "0" "2116" "0" "c.2116T>C" "r.(?)" "p.(Cys706Arg)" "" "0000682680" "00001032" "70" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(His727Tyr)" "" "0000693769" "00001032" "50" "25" "0" "25" "0" "c.25G>C" "r.(?)" "p.(Gly9Arg)" "" "0000693770" "00001032" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Glu79=)" "" "0000729240" "00001032" "50" "858" "0" "858" "0" "c.858G>C" "r.(?)" "p.(Gln286His)" "" "0000729241" "00001032" "30" "917" "-1012" "917" "-1012" "c.917-1012C>T" "r.(=)" "p.(=)" "" "0000810704" "00001032" "30" "1812" "0" "1812" "0" "c.1812C>T" "r.(?)" "p.(Asp604=)" "" "0000823724" "00001032" "50" "2081" "0" "2081" "0" "c.2081A>G" "r.(?)" "p.(His694Arg)" "" "0000856824" "00001032" "50" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Ala716Thr)" "" "0000867597" "00001032" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "" "0000896384" "00001032" "50" "1790" "0" "1790" "0" "c.1790A>G" "r.(?)" "p.(His597Arg)" "" "0000933345" "00001032" "70" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721*)" "9" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007237" "0000000210" "0000009337" "0000000210" "0000009338" "0000088332" "0000145999" "0000088333" "0000146000" "0000089270" "0000147199" "0000089271" "0000147200" "0000089272" "0000147201" "0000089273" "0000147202" "0000089274" "0000147203" "0000089275" "0000147204" "0000089276" "0000147205" "0000089277" "0000147206" "0000089278" "0000147207" "0000089279" "0000147208" "0000089280" "0000147209" "0000089281" "0000147210" "0000089282" "0000147211" "0000184091" "0000408060" "0000393110" "0000823724" "0000437899" "0000933345"