### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KDM6A) # 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}}" "KDM6A" "lysine (K)-specific demethylase 6A" "X" "p11.2" "no" "NG_016260.1" "UD_132118643910" "" "http://www.LOVD.nl/KDM6A" "" "1" "12637" "7403" "300128" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator untill 2016.\r\nEstablishment of this gene variant database (LSDB) 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/KDM6A_NM_021140.2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-03-17 00:00:00" "00006" "2019-01-21 12:30:28" "00006" "2025-10-02 12:04:23" ## 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}}" "00000812" "KDM6A" "lysine (K)-specific demethylase 6A" "001" "NM_021140.2" "" "NP_066963.2" "" "" "" "-375" "5397" "4206" "44732423" "44971847" "00000" "2012-09-13 12:53:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00504" "KABUK2" "Kabuki syndrome, type 2 (KABUK2)" "XLD" "300867" "" "" "" "00006" "2014-08-15 16:29:02" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05873" "KABUK" "Kabuki syndrome (KABUK)" "AD" "" "" "" "" "00006" "2020-11-08 17:13:44" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KDM6A" "00139" "KDM6A" "00504" "KDM6A" "05873" ## Individuals ## Do not remove or alter this header ## ## Count = 82 "{{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" "" "" "" "" "00050430" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050623" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00073308" "" "" "" "29" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377200-Pat?" "00073309" "" "" "" "27" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377201-Pat?" "00073310" "" "" "" "1" "" "00044" "{PMID:Miyake 2013:23076834}" "" "M" "no" "Japan" "" "0" "" "" "" "" "00073311" "" "" "" "1" "" "00044" "{PMID:Miyake 2013:23076834}" "" "M" "" "" "" "0" "" "" "" "" "00073312" "" "" "" "1" "" "00044" "{PMID:Miyake 2013:23076834}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00073313" "" "" "" "1" "" "00669" "author, submitted" "" "" "" "" "" "0" "" "" "" "" "00073314" "" "" "" "1" "" "00669" "author, submitted" "" "" "" "" "" "0" "" "" "" "" "00073315" "" "" "" "1" "" "00669" "author, submitted" "" "" "" "" "" "0" "" "" "" "" "00073316" "" "" "" "1" "" "00006" "{PMID:Lederer 2012:22197486}" "" "F" "no" "Belgium" "" "0" "" "" "" "" "00073317" "" "" "" "1" "" "00006" "{PMID:Lederer 2012:22197486}" "" "F" "no" "Belgium" "" "0" "" "" "" "" "00073318" "" "" "" "1" "" "00006" "{PMID:Lederer 2012:22197486}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00073319" "" "" "" "1" "" "00006" "{PMID:Miyake 2013:23076834}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00073320" "" "" "" "1" "" "00006" "{PMID:Miyake 2013:23076834}" "" "F" "no" "Japan" "" "0" "" "" "" "" "00073321" "" "" "" "1" "" "01672" "" "" "M" "no" "Belgium" "" "0" "" "" "white" "" "00073322" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "Turkey" "" "0" "" "" "Turkish" "P212" "00073323" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "Germany" "" "0" "" "" "German" "P209" "00073324" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "France" "" "0" "" "" "?" "P210" "00073325" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "France" "" "0" "" "" "?" "P211" "00073326" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "M" "no" "France" "" "0" "" "" "French" "P213" "00073327" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "M" "no" "Turkey" "" "0" "" "" "Turkish" "P214" "00073328" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "2-generation family, affected mother/son" "M" "no" "France" "" "0" "" "" "?" "P215" "00073329" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "Turkey" "" "0" "" "" "Turkish" "P216" "00073330" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "France" "" "0" "" "" "?" "P217" "00073331" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "M" "no" "France" "" "0" "" "" "?" "P218" "00073332" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "M" "no" "France" "" "0" "" "" "?" "P219" "00073333" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "F" "no" "Turkey" "" "0" "" "" "Turkish" "P220" "00183673" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat18" "00227946" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00295634" "" "" "" "1" "" "03626" "" "" "M" "no" "Iran" "07y" "0" "" "" "" "1362074_1466" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307261" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 80" "00311451" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "259011" "00311452" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "265196" "00311453" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "262277" "00311454" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "276153" "00311455" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "264818" "00311505" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "263764" "00311506" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "278734" "00311507" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "272119" "00311508" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "276420" "00314990" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1363" "00319860" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United States" "" "0" "" "" "" "DGAP100" "00319865" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "" "" "United States" "" "0" "" "" "" "BCH5562" "00319866" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER4479" "00319867" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER130" "00319868" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "DECIPHER254319" "00319869" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United States" "" "0" "" "" "" "SG55459" "00319870" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "M" "" "United States" "" "0" "" "" "" "SG44724" "00319871" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United States" "" "0" "" "" "" "SG9651" "00319872" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "F" "" "United States" "" "0" "" "" "" "SG57940" "00319873" "" "" "" "1" "" "00006" "{PMID:Lindgren 2013:23354975}" "" "" "" "United States" "" "0" "" "" "" "BCH5561" "00319874" "" "" "" "1" "" "00006" "{PMID:Yang 2016:27028180}" "" "F" "" "China" "" "0" "" "" "" "" "00319875" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319876" "" "" "" "1" "" "00006" "{PMID:Micale 2014:24633898}" "" "" "" "Italy" "" "0" "" "" "" "" "00319877" "" "" "" "4" "" "00006" "{PMID:Lederer 2014:24664873}" "3-generation family, 2 affected brothers, mother and maternal grandmother" "" "" "Belgium" "" "0" "" "" "" "" "00319878" "" "" "" "1" "" "00006" "{PMID:Micale 2014:24633898}" "" "" "" "Italy" "" "0" "" "" "" "" "00319879" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319880" "" "" "" "1" "" "00006" "{PMID:Morgan 2015:25755104}" "" "" "" "Australia" "" "0" "" "" "" "" "00319881" "" "" "" "1" "" "00006" "{PMID:Micale 2014:24633898}" "" "" "" "Italy" "" "0" "" "" "" "" "00319882" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319883" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319884" "" "" "" "1" "" "00006" "{PMID:Van Laarhoven 2015:25972376}" "" "" "" "United States" "" "0" "" "" "" "" "00319885" "" "" "" "1" "" "00006" "{PMID:Cheon 2014:24739679}" "" "" "" "Korea" "" "0" "" "" "" "" "00319886" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319887" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319888" "" "" "" "1" "" "00006" "{PMID:Banka 2014:24527667}" "" "" "" "" "" "0" "" "" "" "" "00319889" "" "" "" "1" "" "00006" "{PMID:Van Laarhoven 2015:25972376}" "" "" "" "United States" "" "0" "" "" "" "" "00373738" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "iw296" "00374580" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4962" "00377134" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "181651" "00387751" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M285" "00390063" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "" "M" "" "Cyprus" "" "0" "" "" "Greece" "Pat10" "00391592" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "002P" "00419632" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "8074" "00434850" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "M" "" "Canada" "" "0" "" "" "" "CMC16" "00448791" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU60" "00448792" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU58" "00466850" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 82 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050430" "00198" "00050623" "00198" "00073308" "00504" "00073309" "00504" "00073310" "00504" "00073311" "00504" "00073312" "00504" "00073313" "00504" "00073314" "00504" "00073315" "00504" "00073316" "00504" "00073317" "00504" "00073318" "00504" "00073319" "00504" "00073320" "00504" "00073321" "00504" "00073322" "00504" "00073323" "00504" "00073324" "00504" "00073325" "00504" "00073326" "00504" "00073327" "00504" "00073328" "00504" "00073329" "00504" "00073330" "00504" "00073331" "00504" "00073332" "00504" "00073333" "00504" "00183673" "00139" "00227946" "00198" "00295634" "00504" "00307145" "01544" "00307261" "01544" "00311451" "00198" "00311452" "00198" "00311453" "00198" "00311454" "00198" "00311455" "00198" "00311505" "00198" "00311506" "00198" "00311507" "00198" "00311508" "00198" "00314990" "00198" "00319860" "00198" "00319865" "00198" "00319866" "00198" "00319867" "00198" "00319868" "00198" "00319869" "00198" "00319870" "00198" "00319871" "00198" "00319872" "00198" "00319873" "00198" "00319874" "05873" "00319875" "05873" "00319876" "05873" "00319877" "05873" "00319878" "05873" "00319879" "05873" "00319880" "05873" "00319881" "05873" "00319882" "05873" "00319883" "05873" "00319884" "05873" "00319885" "05873" "00319886" "05873" "00319887" "05873" "00319888" "05873" "00319889" "05873" "00373738" "00504" "00374580" "00198" "00377134" "00504" "00387751" "00139" "00390063" "00198" "00391592" "00504" "00419632" "00198" "00434850" "00198" "00448791" "00198" "00448792" "00198" "00466850" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00504, 01157, 01544, 05611, 05873 ## Count = 81 "{{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}}" "0000037042" "00198" "00050430" "00006" "Isolated (sporadic)" "" "global developmental delay, optic atrophy, recurrent urinary tract infections, natal tooth, 2-3 finger syndactyly, delayed cns myelination, high palate, coarse hair, neonatal hypotonia, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "0000037235" "00198" "00050623" "00006" "Isolated (sporadic)" "" "feeding difficulties in infancy, decreased fetal movement, open mouth, myopathic facies, high narrow palate, long eyelashes, overlapping toe, muscular hypotonia, downslanted palpebral fissures, convex nasal ridge, narrow nasal ridge, congenital nystagmus, esotropia" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000052983" "00504" "00073308" "00124" "Unknown" "" "mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000052984" "00504" "00073309" "00124" "Unknown" "" "mental retardation" "" "" "" "" "" "" "" "" "" "" "" "0000052985" "00504" "00073310" "00044" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052986" "00504" "00073311" "00044" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052987" "00504" "00073312" "00044" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052988" "00504" "00073313" "00669" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052989" "00504" "00073314" "00669" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052990" "00504" "00073315" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052991" "00504" "00073316" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052992" "00504" "00073317" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052993" "00504" "00073318" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052994" "00504" "00073319" "00006" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052995" "00504" "00073320" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000052996" "00504" "00073321" "01672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052997" "00504" "00073322" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; no high arched palate; micrognathia; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; seizures; structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; pulmonary infections; frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche" "" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000052998" "00504" "00073323" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; micrognathia; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no neonatal hypoglycemia; sacral dimple, simian crease, widely spaced nipples" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000052999" "00504" "00073324" "01671" "Isolated (sporadic)" "" "small for gestational age; short stature; microcephaly; no large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; no long, thick eyelashes; no blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; no short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; selective tooth agenesis; no supernumerary teeth; malocclusion; no dental caries; prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; no joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; horseshoe kidney" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053000" "00504" "00073325" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; hip dysplasia; no joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; juvenile idiopathic osteoarthritis" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053001" "00504" "00073326" "01671" "Unknown" "" "small for gestational age; short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; no short columella; downslanting corners mouth; no cataracts; strabismus; no cleft palate; micrognathia; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no immunodeficiency; no tumor; no leukemia; no obesity; cachexia, no walking, no speech at age 10" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053002" "00504" "00073327" "01671" "Familial, autosomal dominant" "" "not small for gestational age; no short stature; microcephaly; large/dysplastic ears; long palpebral fissures; no eversion lower eyelid; long, thick eyelashes; no blue sclerae; arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; no strabismus; cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; no muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; thorax asymmetry" "1d" "" "" "" "" "" "" "" "" "Kabuku syndrome" "" "0000053003" "00504" "00073328" "01671" "Familial, autosomal dominant" "" "" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053004" "00504" "00073329" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; depressed nasal tip; short columella; downslanting corners mouth; no cataracts; no strabismus; no cleft palate; high arched palate; no micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no foot deformity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; no intellectual disability; muscular hypotonia; no feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; premature thelarche; bicuspid aortic valve, accessory spleen" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053005" "00504" "00073330" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; high arched palate; no micrognathia; no brachydactyly of the fifth finger; no clinodactyly fifth finger; hip dysplasia; no joint laxity; no nail dystrophy; thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; structural brain anomaly; no hearing loss; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no tumor; no leukemia; neonatal hypoglycemia; left ventricular hypertrophy" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053006" "00504" "00073331" "01671" "Isolated (sporadic)" "" "not small for gestational age; no short stature; no microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; no strabismus; no cleft palate; no high arched palate; no micrognathia; no selective tooth agenesis; no brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; no foot deformity; nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; isolated persistent left superior vena cava, hyperinsulinism" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053007" "00504" "00073332" "01671" "Isolated (sporadic)" "" "small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; no long, thick eyelashes; blue sclerae; no arched eyebrows; lateral sparseness eyebrows; no depressed nasal tip; short columella; downslanting corners mouth; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; brachydactyly of the fifth finger; no clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; no nail dystrophy; no thin temporal hair (infancy); no hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; autoimmunity; no pulmonary infections; no frequent upper airway infections; no recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; neonatal hypoglycemia; no obesity; autoimmunity suspected due to vitiligo" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000053008" "00504" "00073333" "01671" "Isolated (sporadic)" "" "small for gestational age; short stature; microcephaly; large/dysplastic ears; long palpebral fissures; eversion lower eyelid; long, thick eyelashes; blue sclerae; no arched eyebrows; no lateral sparseness eyebrows; depressed nasal tip; short columella; no downslanting corners mouth; no cataracts; strabismus; no cleft palate; high arched palate; micrognathia; no selective tooth agenesis; no oligodontia; no supernumerary teeth; no dental crowding; no malocclusion; no dental caries; no prominent upper incisors; no brachydactyly of the fifth finger; clinodactyly fifth finger; no scoliosis; no hip dysplasia; joint laxity; foot deformity; no nail dystrophy; no thin temporal hair (infancy); hypertrichosis; persistent fetal finger pads; intellectual disability; muscular hypotonia; feeding difficulties; no seizures; no structural brain anomaly; no hearing loss; no atrial/ventricular septal defect; no coarctation of aorta; no tetralogy of Fallot; no renal malformation; no renal malfunction; no anemia; no thrombocytopenia; no pancytopenia; no autoimmunity; no pulmonary infections; no frequent upper airway infections; recurrent otitis media in infancy; no immunodeficiency; no tumor; no leukemia; no neonatal hypoglycemia; no obesity; no precocious puberty; no premature thelarche; mild unilateral ptosis, bilateral simian crease, hyperactivity, hand‐flapping, bruxism" "1d" "" "" "" "" "" "" "" "KABUK2" "Kabuku syndrome" "" "0000144359" "00139" "00183673" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK-2" "intellectual disability" "" "0000171937" "00198" "00227946" "01807" "Unknown" "" "Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Intellectual disability, mild (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "" "0000223198" "00504" "00295634" "03626" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233065" "01544" "00307261" "03753" "Unknown" "" "Unilateral" "" "00y27m" "HP:0000555" "" "" "" "" "" "" "" "" "0000236697" "00198" "00311451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236698" "00198" "00311452" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236699" "00198" "00311453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236700" "00198" "00311454" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236701" "00198" "00311455" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236751" "00198" "00311505" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236752" "00198" "00311506" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236753" "00198" "00311507" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236754" "00198" "00311508" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238742" "00198" "00314990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000241964" "00198" "00319860" "00006" "Isolated (sporadic)" "" "see paper; ..., intellectual disability, short stature, cleft palate, seizures" "" "" "" "" "" "" "" "" "KABUK2" "" "" "0000241969" "00198" "00319865" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000241970" "00198" "00319866" "00006" "Isolated (sporadic)" "" "short stature, microcephaly, cleft palate, intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000241971" "00198" "00319867" "00006" "Isolated (sporadic)" "" "short stature, small for gestational age, hypoglycinemia" "" "" "" "" "" "" "" "" "" "" "" "0000241972" "00198" "00319868" "00006" "Unknown" "" "intellectual disability, developmental delay, obesity" "" "" "" "" "" "" "" "" "" "" "" "0000241973" "00198" "00319869" "00006" "Unknown" "" "developmental delay, macrocephaly, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000241974" "00198" "00319870" "00006" "Unknown" "" "encephalopathy, epilepsy, developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000241975" "00198" "00319871" "00006" "Isolated (sporadic)" "" "moderate global developmental delay (especially speech; only 10 word vocabulary), constipation, dysmorphic features: wide-set and downslanting eyes, epicanthal folds and bushy eyebrows, low set ears over folded helices, short nose with anteverted nares and a prominent columella, long upper lip and pointy chin, bilateral fifth finger clinodactyly but normal palmar creases, very flat feet" "" "" "" "" "" "" "" "" "" "" "" "0000241976" "00198" "00319872" "00006" "Unknown" "" "developmental delay, dysmorphic features" "" "" "" "" "" "" "" "" "" "" "" "0000241977" "00198" "00319873" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000241978" "05873" "00319874" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241979" "05873" "00319875" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241980" "05873" "00319876" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241981" "05873" "00319877" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241982" "05873" "00319878" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241983" "05873" "00319879" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241984" "05873" "00319880" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241985" "05873" "00319881" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241986" "05873" "00319882" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241987" "05873" "00319883" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241988" "05873" "00319884" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241989" "05873" "00319885" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241990" "05873" "00319886" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241991" "05873" "00319887" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241992" "05873" "00319888" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000241993" "05873" "00319889" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK2" "Kabuki syndrome" "" "0000268962" "00504" "00373738" "01864" "Familial, X-linked dominant" "" "HP:0004322;HP:0004325;HP:0001276;HP:0000504;HP:0000648;HP:0001643;HP:0001631;HP:0006956; HP:0002079; HP:0001263; HP:0000988" "" "" "" "" "" "" "" "" "Kabuki syndrome 2 (OMIM 300867)" "" "" "0000269790" "00198" "00374580" "00006" "Familial, autosomal dominant" "" "kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "" "0000272297" "00504" "00377134" "01164" "Familial, X-linked dominant" "" "Abnormality of body height, Microcephaly, Behavioral abnormality, Global developmental delay, Growth delay, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia of the cerebrum, Abnormal nervous system physiology, Neurodevelopmental delay, Decreased head circumference" "" "" "" "" "" "" "" "" "5y" "" "" "0000281319" "00139" "00387751" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000283602" "00198" "00390063" "00006" "Isolated (sporadic)" "27y" "Severe intellectual disability, failure to thrive, microcephaly, spasticity, large prominent teeth, dysplastic ears, sparse eyebrows, high arched palate, short stature, frequent otitis media, dry skin, broad thumbs, sparse teeth, hypoplastic teeth" "" "" "" "" "" "" "" "" "" "" "" "0000310913" "00198" "00419632" "02300" "Isolated (sporadic)" "6y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000325089" "00198" "00434850" "00006" "Familial, X-linked recessive" "" "global developmental delay or intellectual disability, craniofacial, hyperinsulinemic hypoglycemia" "" "" "" "" "" "" "" "" "" "" "" "0000337966" "00198" "00448791" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000337967" "00198" "00448792" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" "" "0000352213" "05611" "00466850" "03544" "Isolated (sporadic)" "" "HP:0001511, HP:0004322, HP:0009824, HP:0002342, HP:0000752, HP:0001288, HP:0007018, HP:0000271, HP:0000826" "" "" "" "" "" "" "" "" "KABUK2" "complex NDD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 82 "{{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" "" "" "0000050375" "00050430" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050568" "00050623" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000073467" "00073308" "1" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000073468" "00073309" "1" "00124" "00124" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000073469" "00073310" "1" "00044" "00044" "2012-09-19 03:39:13" "00006" "2014-03-01 20:27:30" "SEQ" "DNA" "" "" "0000073470" "00073311" "1" "00044" "00044" "2012-09-19 03:43:37" "" "" "SEQ" "DNA" "" "" "0000073471" "00073312" "1" "00044" "00044" "2012-09-19 03:48:46" "00006" "2014-03-01 20:25:10" "SEQ" "DNA" "" "" "0000073472" "00073313" "1" "00669" "00669" "2014-02-26 12:27:00" "" "" "SEQ" "DNA" "" "" "0000073473" "00073314" "1" "00669" "00669" "2014-02-26 13:02:39" "" "" "SEQ" "DNA" "" "" "0000073474" "00073315" "1" "00669" "00669" "2014-02-26 13:48:28" "00006" "2014-03-05 20:39:29" "SEQ" "DNA" "" "" "0000073475" "00073316" "1" "00006" "00006" "2014-03-01 20:44:04" "" "" "arrayCNV" "DNA" "" "" "0000073476" "00073317" "1" "00006" "00006" "2014-03-01 20:47:50" "00006" "2014-03-01 20:51:14" "arrayCNV" "DNA" "" "" "0000073477" "00073318" "1" "00006" "00006" "2014-03-01 20:55:58" "" "" "SEQ" "DNA" "" "" "0000073478" "00073319" "1" "00006" "00006" "2014-03-01 21:06:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000073479" "00073320" "1" "00006" "00006" "2014-03-01 21:12:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000073480" "00073321" "1" "01672" "01672" "2015-08-20 11:28:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000073481" "00073322" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000073482" "00073323" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073483" "00073324" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073484" "00073325" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073485" "00073326" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073486" "00073327" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073487" "00073328" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073488" "00073329" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073489" "00073330" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073490" "00073331" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073491" "00073332" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000073492" "00073333" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" "" "0000184641" "00183673" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000229032" "00227946" "1" "01807" "01807" "2019-03-15 19:53:52" "" "" "SEQ" "DNA" "" "" "0000296806" "00295634" "1" "03626" "03626" "2020-03-21 12:25:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308403" "00307261" "1" "03753" "03753" "2020-08-07 04:01:20" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000312621" "00311451" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312622" "00311452" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312623" "00311453" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312624" "00311454" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312625" "00311455" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312675" "00311505" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312676" "00311506" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312677" "00311507" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000312678" "00311508" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316166" "00314990" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000321041" "00319860" "1" "00006" "00006" "2020-11-09 13:37:41" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000321046" "00319865" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321047" "00319866" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321048" "00319867" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321049" "00319868" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321050" "00319869" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321051" "00319870" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321052" "00319871" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321053" "00319872" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321054" "00319873" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP" "DNA" "" "" "0000321055" "00319874" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000321056" "00319875" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321057" "00319876" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321058" "00319877" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321059" "00319878" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321060" "00319879" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321061" "00319880" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321062" "00319881" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321063" "00319882" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321064" "00319883" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321065" "00319884" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321066" "00319885" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321067" "00319886" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321068" "00319887" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321069" "00319888" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000321070" "00319889" "1" "00006" "00006" "2020-11-09 14:16:53" "" "" "SEQ" "DNA" "" "" "0000374971" "00373738" "1" "01864" "01864" "2021-05-19 16:15:34" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375774" "00374580" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378339" "00377134" "1" "01164" "01164" "2021-07-06 10:38:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000388982" "00387751" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000391304" "00390063" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000392834" "00391592" "1" "02494" "02494" "2021-11-18 10:58:19" "" "" "SEQ-NG" "DNA" "" "" "0000420936" "00419632" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436322" "00434850" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450382" "00448791" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000450383" "00448792" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468514" "00466850" "1" "03544" "03544" "2025-09-24 10:48:49" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{geneid}}" "0000050375" "KDM6A" "0000050568" "KDM6A" "0000073467" "KDM6A" "0000073468" "KDM6A" "0000073469" "KDM6A" "0000073470" "KDM6A" "0000073471" "KDM6A" "0000073472" "KDM6A" "0000073473" "KDM6A" "0000073474" "KDM6A" "0000073475" "KDM6A" "0000073476" "KDM6A" "0000073477" "KDM6A" "0000073478" "KDM6A" "0000073479" "KDM6A" "0000073480" "KDM6A" "0000073481" "KDM6A" "0000073482" "KDM6A" "0000073483" "KDM6A" "0000073484" "KDM6A" "0000073485" "KDM6A" "0000073486" "KDM6A" "0000073487" "KDM6A" "0000073488" "KDM6A" "0000073489" "KDM6A" "0000073490" "KDM6A" "0000073491" "KDM6A" "0000073492" "KDM6A" "0000184641" "KDM6A" "0000308287" "RB1" "0000308403" "RB1" "0000312621" "KDM6A" "0000312622" "KDM6A" "0000312623" "KDM6A" "0000312624" "KDM6A" "0000312625" "KDM6A" "0000312675" "KDM6A" "0000312676" "KDM6A" "0000312677" "KDM6A" "0000312678" "KDM6A" "0000316166" "KDM6A" "0000321041" "KDM6A" "0000321046" "KDM6A" "0000321047" "KDM6A" "0000321048" "KDM6A" "0000321049" "KDM6A" "0000321050" "KDM6A" "0000321051" "KDM6A" "0000321052" "KDM6A" "0000321053" "KDM6A" "0000321054" "KDM6A" "0000321055" "KDM6A" "0000321056" "KDM6A" "0000321057" "KDM6A" "0000321058" "KDM6A" "0000321059" "KDM6A" "0000321060" "KDM6A" "0000321061" "KDM6A" "0000321062" "KDM6A" "0000321063" "KDM6A" "0000321064" "KDM6A" "0000321065" "KDM6A" "0000321066" "KDM6A" "0000321067" "KDM6A" "0000321068" "KDM6A" "0000321069" "KDM6A" "0000321070" "KDM6A" "0000374971" "KDM6A" "0000378339" "KDM6A" "0000388982" "KDM6A" ## 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 = 206 "{{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}}" "0000002901" "20" "30" "X" "44935924" "44935924" "del" "0" "00037" "KDM6A_000017" "g.44935924del" "" "" "" "2703-18del" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000006660" "20" "30" "X" "44833841" "44833841" "subst" "0" "00037" "KDM6A_000019" "g.44833841C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44974596C>A" "" "likely benign" "" "0000006661" "20" "30" "X" "44938563" "44938563" "subst" "0.252047" "00037" "KDM6A_000018" "g.44938563G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45079318G>A" "" "likely benign" "" "0000008715" "20" "30" "X" "44833841" "44833841" "subst" "0" "00037" "KDM6A_000019" "g.44833841C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44974596C>A" "" "likely benign" "" "0000008716" "0" "30" "X" "44935936" "44935937" "del" "0" "00037" "KDM6A_000016" "g.44935936_44935937del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45076691_45076692del" "" "likely benign" "" "0000008717" "20" "30" "X" "44938563" "44938563" "subst" "0.252047" "00037" "KDM6A_000018" "g.44938563G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45079318G>A" "" "likely benign" "" "0000010903" "0" "30" "X" "44935924" "44935924" "del" "0" "00037" "KDM6A_000017" "g.44935924del" "" "" "" "2703-18del" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000079355" "0" "90" "X" "44879925" "44879925" "subst" "0" "00006" "KDM6A_000020" "g.44879925C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.45020680C>T" "" "pathogenic" "" "0000079548" "0" "90" "X" "44941876" "44941876" "subst" "0" "00006" "KDM6A_000021" "g.44941876C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.45082631C>A" "" "pathogenic" "" "0000117152" "20" "50" "X" "44929077" "44929077" "subst" "0.133169" "00124" "KDM6A_000001" "g.44929077C>A" "29/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 29 times" "Germline" "" "" "0" "" "" "g.45069832C>A" "" "VUS" "" "0000117153" "20" "30" "X" "44938563" "44938563" "subst" "0.252047" "00124" "KDM6A_000002" "g.44938563G>A" "27/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Q1037Q" "recurrent, found 27 times" "Germline" "" "" "0" "" "" "g.45079318G>A" "" "likely benign" "" "0000117154" "0" "90" "X" "44922694" "44922694" "subst" "0" "00044" "KDM6A_000003" "g.44922694C>T" "" "{PMID:Miyake 2013:23076834}, {OMIM300128:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45063449C>T" "" "pathogenic (dominant)" "" "0000117155" "20" "90" "X" "44949156" "44949156" "subst" "0" "00044" "KDM6A_000004" "g.44949156G>A" "" "{PMID:Miyake 2013:23076834}, {OMIM300128:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45089911G>A" "" "pathogenic (dominant)" "" "0000117156" "0" "90" "X" "44942774" "44942776" "del" "0" "00044" "KDM6A_000005" "g.44942774_44942776del" "" "{PMID:Miyake 2013:23076834}, {OMIM300128:0004}" "" "3354_3356delTCT" "" "De novo" "yes" "" "0" "" "" "g.45083529_45083531del" "" "pathogenic (dominant)" "" "0000117157" "0" "90" "X" "44938391" "44938391" "subst" "0" "00669" "KDM6A_000006" "g.44938391A>T" "" "author, submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.45079146A>T" "" "pathogenic" "" "0000117158" "0" "90" "X" "44922985" "44922988" "del" "0" "00669" "KDM6A_000007" "g.44922985_44922988del" "" "author, submitted" "" "1846_1849delACTC" "" "Germline" "?" "" "0" "" "" "g.45063740_45063743del" "" "pathogenic" "" "0000117159" "0" "70" "X" "44942037" "44942040" "del" "0" "00669" "KDM6A_000008" "g.44942037_44942040del" "" "author, submitted" "" "3284+3_3284+6delAAGT" "" "De novo" "yes" "" "0" "" "" "g.45082792_45082795del" "" "likely pathogenic" "" "0000117160" "0" "90" "X" "44941820" "44971847" "del" "0" "00006" "KDM6A_000009" "g.(44938597_44941820)_(44971847_?)del" "" "{PMID:Lederer 2012:22197486}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117161" "0" "90" "X" "0" "0" "" "0" "00006" "KDM6A_000010" "g.(?_g.44732423)_(44971847del_?)del" "" "{PMID:Lederer 2012:22197486}" "" "" "815.7 kb deletion incl. CXorf36, DUSP21, FUNDC1" "De novo" "" "" "0" "" "" "g.(?_44873177)_(45112602_?)del" "" "pathogenic (dominant)" "" "0000117162" "0" "90" "X" "44870205" "44911048" "del" "0" "00006" "KDM6A_000011" "g.(44833961_44870205)_(44911048_44913073)del" "" "{PMID:Lederer 2012:22197486}, {OMIM300128:0001}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000117163" "0" "90" "X" "44923048" "44923051" "del" "0" "00006" "KDM6A_000012" "g.44923048_44923051del" "" "{PMID:Miyake 2013:23076834}, {OMIM300128:0005}" "" "1909_1912delTCTA" "" "De novo" "yes" "" "0" "" "" "g.45063803_45063806del" "" "pathogenic (dominant)" "" "0000117164" "0" "90" "X" "44969369" "44969369" "subst" "0" "00006" "KDM6A_000013" "g.44969369C>T" "" "{PMID:Miyake 2013:23076834}" "" "" "random X-inactivation" "Germline" "yes" "" "0" "" "" "g.45110124C>T" "" "pathogenic (dominant)" "" "0000117165" "0" "90" "X" "44950066" "44950066" "subst" "0" "01672" "KDM6A_000014" "g.44950066C>T" "" "" "" "NG_016260.1:g.222644C>T" "" "De novo" "" "" "0" "" "" "g.45090821C>T" "" "pathogenic" "" "0000117166" "0" "90" "X" "44733179" "44733179" "dup" "0" "01671" "KDM6A_000015" "g.44733179dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.44873933dup" "" "pathogenic (dominant)" "" "0000117167" "0" "90" "X" "44733198" "44733198" "subst" "0" "01671" "KDM6A_000022" "g.44733198G>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.44873952G>T" "" "pathogenic (dominant)" "" "0000117168" "0" "90" "X" "44879925" "44879925" "subst" "0" "01671" "KDM6A_000023" "g.44879925C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45020680C>T" "" "pathogenic (dominant)" "" "0000117169" "0" "90" "X" "44938561" "44938561" "subst" "0" "01671" "KDM6A_000024" "g.44938561C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45079316C>T" "" "pathogenic (dominant)" "" "0000117170" "0" "90" "X" "44929126" "44929127" "dup" "0" "01671" "KDM6A_000025" "g.44929126_44929127dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "2226_2227dupCA" "" "Germline" "yes" "" "0" "" "" "g.45069881_45069882dup" "" "pathogenic (dominant)" "" "0000117171" "21" "50" "X" "44935968" "44935968" "subst" "0" "01671" "KDM6A_000026" "g.44935968A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "" "" "0" "" "" "g.45076723A>G" "" "VUS" "" "0000117172" "21" "90" "X" "44938525" "44938525" "subst" "0" "01671" "KDM6A_000027" "g.44938525A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45079280A>G" "" "pathogenic (dominant)" "" "0000117173" "0" "90" "X" "44949994" "44949994" "subst" "0" "01671" "KDM6A_000028" "g.44949994C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45090749C>T" "" "pathogenic (dominant)" "" "0000117174" "0" "90" "X" "44870269" "44870269" "subst" "0" "01671" "KDM6A_000029" "g.44870269G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45011024G>C" "" "pathogenic (dominant)" "" "0000117175" "0" "90" "X" "44894236" "44894236" "subst" "0" "01671" "KDM6A_000030" "g.44894236T>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45034991T>C" "" "pathogenic (dominant)" "" "0000117176" "0" "90" "X" "44896898" "44896898" "subst" "0" "01671" "KDM6A_000031" "g.44896898A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45037653A>G" "" "pathogenic (dominant)" "" "0000117177" "0" "90" "X" "44936072" "44936072" "subst" "0" "01671" "KDM6A_000032" "g.44936072G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "yes" "" "0" "" "" "g.45076827G>A" "" "pathogenic (dominant)" "" "0000253589" "0" "10" "X" "44732802" "44732802" "subst" "0" "01943" "KDM6A_000033" "g.44732802A>G" "" "" "" "KDM6A(NM_001291415.1):c.5A>G (p.K2R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44873556A>G" "" "benign" "" "0000255104" "0" "30" "X" "44922880" "44922880" "subst" "0.00174053" "01943" "KDM6A_000045" "g.44922880A>G" "" "" "" "KDM6A(NM_001291415.1):c.1897A>G (p.T633A), KDM6A(NM_001291415.2):c.1897A>G (p.(Thr633Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45063635A>G" "" "likely benign" "" "0000281768" "0" "30" "X" "44922890" "44922890" "subst" "0.000827514" "02325" "KDM6A_000046" "g.44922890C>T" "" "" "" "KDM6A(NM_001291415.1):c.1907C>T (p.T636M), KDM6A(NM_001291415.2):c.1907C>T (p.(Thr584Met), p.T636M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45063645C>T" "" "likely benign" "" "0000281769" "0" "10" "X" "44935937" "44935937" "del" "0" "02325" "KDM6A_000017" "g.44935937del" "" "" "" "KDM6A(NM_001291415.1):c.2859-5delT, KDM6A(NM_001291415.2):c.2859-5delT, KDM6A(NM_021140.2):c.2703-16del (p.(=)), KDM6A(NM_021140.4):c.2703-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45076692del" "" "benign" "" "0000281770" "0" "10" "X" "44938563" "44938563" "subst" "0.252047" "02325" "KDM6A_000002" "g.44938563G>A" "" "" "" "KDM6A(NM_021140.4):c.3111G>A (p.Q1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45079318G>A" "" "benign" "" "0000285786" "0" "30" "X" "44935937" "44935937" "del" "0" "02326" "KDM6A_000052" "g.44935937del" "" "" "" "KDM6A(NM_001291415.1):c.2859-5delT, KDM6A(NM_001291415.2):c.2859-5delT, KDM6A(NM_021140.2):c.2703-16del (p.(=)), KDM6A(NM_021140.4):c.2703-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45076692del" "" "likely benign" "" "0000290146" "0" "50" "X" "44919396" "44919396" "subst" "0" "01943" "KDM6A_000040" "g.44919396C>A" "" "" "" "KDM6A(NM_001291415.1):c.1324C>A (p.Q442K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45060151C>A" "" "VUS" "" "0000290147" "0" "30" "X" "44921996" "44921996" "subst" "0.0026581" "01943" "KDM6A_000042" "g.44921996G>A" "" "" "" "KDM6A(NM_001291415.1):c.1683+3G>A, KDM6A(NM_001291415.2):c.1683+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45062751G>A" "" "likely benign" "" "0000290148" "0" "30" "X" "44922857" "44922857" "subst" "0.00020806" "01943" "KDM6A_000044" "g.44922857C>T" "" "" "" "KDM6A(NM_001291415.1):c.1874C>T (p.S625F), KDM6A(NM_021140.4):c.1718C>T (p.S573F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45063612C>T" "" "likely benign" "" "0000290149" "0" "30" "X" "44922890" "44922890" "subst" "0.000827514" "01943" "KDM6A_000046" "g.44922890C>T" "" "" "" "KDM6A(NM_001291415.1):c.1907C>T (p.T636M), KDM6A(NM_001291415.2):c.1907C>T (p.(Thr584Met), p.T636M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45063645C>T" "" "likely benign" "" "0000290150" "0" "30" "X" "44928873" "44928873" "subst" "0.000169106" "01943" "KDM6A_000048" "g.44928873G>A" "" "" "" "KDM6A(NM_001291415.1):c.2129G>A (p.R710Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45069628G>A" "" "likely benign" "" "0000290151" "0" "50" "X" "44935971" "44935971" "subst" "6.76296E-5" "01943" "KDM6A_000053" "g.44935971G>C" "" "" "" "KDM6A(NM_001291415.1):c.2888G>C (p.S963T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45076726G>C" "" "VUS" "" "0000333836" "0" "50" "X" "44733170" "44733170" "subst" "0.000102433" "01804" "KDM6A_000036" "g.44733170C>T" "" "" "" "KDM6A(NM_001291415.1):c.162C>T (p.S54=), KDM6A(NM_021140.2):c.162C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44873924C>T" "" "VUS" "" "0000333838" "0" "50" "X" "44918695" "44918695" "subst" "0" "01804" "KDM6A_000039" "g.44918695G>A" "" "" "" "KDM6A(NM_021140.2):c.1178G>A (p.(Arg393Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45059450G>A" "" "VUS" "" "0000333841" "0" "30" "X" "44922890" "44922890" "subst" "0.000827514" "01804" "KDM6A_000046" "g.44922890C>T" "" "" "" "KDM6A(NM_001291415.1):c.1907C>T (p.T636M), KDM6A(NM_001291415.2):c.1907C>T (p.(Thr584Met), p.T636M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45063645C>T" "" "likely benign" "" "0000333843" "0" "50" "X" "44929231" "44929231" "subst" "0.000179353" "01804" "KDM6A_000049" "g.44929231T>A" "" "" "" "KDM6A(NM_001291415.1):c.2487T>A (p.N829K), KDM6A(NM_021140.2):c.2331T>A (p.(Asn777Lys)), KDM6A(NM_021140.4):c.2331T>A (p.N777K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45069986T>A" "" "VUS" "" "0000338121" "0" "90" "X" "44918491" "44918491" "subst" "0" "02327" "KDM6A_000055" "g.44918491G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45059246G>A" "" "pathogenic" "" "0000340103" "0" "10" "X" "44938563" "44938563" "subst" "0.252047" "02327" "KDM6A_000002" "g.44938563G>A" "" "" "" "KDM6A(NM_021140.4):c.3111G>A (p.Q1037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45079318G>A" "" "benign" "" "0000344413" "0" "10" "X" "44920641" "44920641" "subst" "0.000514454" "02327" "KDM6A_000041" "g.44920641T>C" "" "" "" "KDM6A(NM_001291415.1):c.1558T>C (p.C520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45061396T>C" "" "benign" "" "0000344845" "0" "50" "X" "44919396" "44919396" "subst" "0" "02327" "KDM6A_000040" "g.44919396C>A" "" "" "" "KDM6A(NM_001291415.1):c.1324C>A (p.Q442K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45060151C>A" "" "VUS" "" "0000347506" "0" "30" "X" "44913148" "44913148" "subst" "1.11893E-5" "02327" "KDM6A_000038" "g.44913148A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45053903A>G" "" "likely benign" "" "0000408764" "0" "90" "X" "44929163" "44929172" "del" "0" "00006" "KDM6A_000056" "g.44929163_44929172del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "2257_2266del10" "" "De novo" "" "" "0" "" "" "g.45069918_45069927del" "" "pathogenic (dominant)" "" "0000470174" "0" "90" "X" "44920662" "44920662" "subst" "0" "01807" "KDM6A_000057" "g.44920662C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45061417C>T" "" "pathogenic" "" "0000576024" "0" "30" "X" "44732837" "44732848" "dup" "0" "02325" "KDM6A_000058" "g.44732837_44732848dup" "" "" "" "KDM6A(NM_001291415.1):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup), KDM6A(NM_001291415.2):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44873591_44873602dup" "" "likely benign" "" "0000576025" "0" "10" "X" "44732845" "44732847" "dup" "0" "02325" "KDM6A_000059" "g.44732845_44732847dup" "" "" "" "KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44873599_44873601dup" "" "benign" "" "0000576026" "0" "10" "X" "44732845" "44732847" "dup" "0" "01943" "KDM6A_000059" "g.44732845_44732847dup" "" "" "" "KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44873599_44873601dup" "" "benign" "" "0000576028" "0" "30" "X" "44732885" "44732885" "subst" "0.0003722" "01943" "KDM6A_000060" "g.44732885G>A" "" "" "" "KDM6A(NM_001291415.1):c.88G>A (p.A30T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44873639G>A" "" "likely benign" "" "0000576029" "0" "50" "X" "44870222" "44870222" "subst" "0" "02327" "KDM6A_000061" "g.44870222A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45010977A>G" "" "VUS" "" "0000576030" "0" "30" "X" "44879848" "44879848" "subst" "5.60566E-5" "01804" "KDM6A_000062" "g.44879848C>T" "" "" "" "KDM6A(NM_021140.2):c.444-7C>T (p.?), KDM6A(NM_021140.3):c.444-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45020603C>T" "" "likely benign" "" "0000576031" "0" "30" "X" "44913069" "44913069" "dup" "0" "01943" "KDM6A_000063" "g.44913069dup" "" "" "" "KDM6A(NM_001291415.1):c.749-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45053824dup" "" "likely benign" "" "0000576032" "0" "30" "X" "44920641" "44920641" "subst" "0.000514454" "02326" "KDM6A_000041" "g.44920641T>C" "" "" "" "KDM6A(NM_001291415.1):c.1558T>C (p.C520R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45061396T>C" "" "likely benign" "" "0000576034" "0" "30" "X" "44921996" "44921996" "subst" "0.0026581" "01804" "KDM6A_000042" "g.44921996G>A" "" "" "" "KDM6A(NM_001291415.1):c.1683+3G>A, KDM6A(NM_001291415.2):c.1683+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45062751G>A" "" "likely benign" "" "0000576036" "0" "10" "X" "44922890" "44922890" "subst" "0.000827514" "02326" "KDM6A_000046" "g.44922890C>T" "" "" "" "KDM6A(NM_001291415.1):c.1907C>T (p.T636M), KDM6A(NM_001291415.2):c.1907C>T (p.(Thr584Met), p.T636M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45063645C>T" "" "benign" "" "0000576037" "0" "30" "X" "44922931" "44922931" "subst" "0.000299577" "01804" "KDM6A_000064" "g.44922931A>G" "" "" "" "KDM6A(NM_021140.2):c.1792A>G (p.(Ile598Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45063686A>G" "" "likely benign" "" "0000576038" "0" "50" "X" "44922962" "44922962" "subst" "0" "01804" "KDM6A_000065" "g.44922962C>T" "" "" "" "KDM6A(NM_021140.2):c.1823C>T (p.(Pro608Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45063717C>T" "" "VUS" "" "0000576040" "0" "50" "X" "44929302" "44929302" "subst" "1.12386E-5" "02327" "KDM6A_000066" "g.44929302A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070057A>G" "" "VUS" "" "0000576041" "0" "50" "X" "44929323" "44929323" "subst" "0" "01943" "KDM6A_000067" "g.44929323A>G" "" "" "" "KDM6A(NM_001291415.1):c.2579A>G (p.H860R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070078A>G" "" "VUS" "" "0000576042" "0" "90" "X" "44929403" "44929403" "subst" "0" "01943" "KDM6A_000068" "g.44929403C>T" "" "" "" "KDM6A(NM_001291415.1):c.2659C>T (p.Q887*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070158C>T" "" "pathogenic" "" "0000576043" "0" "30" "X" "44929589" "44929589" "subst" "0" "02327" "KDM6A_000069" "g.44929589C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070344C>G" "" "likely benign" "" "0000576044" "0" "10" "X" "44935926" "44935926" "subst" "0" "02326" "KDM6A_000070" "g.44935926T>C" "" "" "" "KDM6A(NM_001291415.1):c.2859-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45076681T>C" "" "benign" "" "0000576046" "0" "30" "X" "44938557" "44938557" "subst" "0" "01943" "KDM6A_000072" "g.44938557T>C" "" "" "" "KDM6A(NM_001291415.1):c.3261T>C (p.Y1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45079312T>C" "" "likely benign" "" "0000576047" "0" "70" "X" "44948987" "44948987" "subst" "0" "02327" "KDM6A_000073" "g.44948987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45089742G>A" "" "likely pathogenic" "" "0000576049" "0" "30" "X" "44969370" "44969370" "subst" "1.6806E-5" "01943" "KDM6A_000075" "g.44969370G>A" "" "" "" "KDM6A(NM_001291415.1):c.4208G>A (p.R1403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45110125G>A" "" "likely benign" "" "0000619573" "0" "30" "X" "44921989" "44921989" "subst" "5.64395E-6" "01943" "KDM6A_000076" "g.44921989A>G" "" "" "" "KDM6A(NM_001291415.1):c.1679A>G (p.H560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45062744A>G" "" "likely benign" "" "0000619574" "0" "50" "X" "44929026" "44929026" "subst" "5.64159E-6" "01943" "KDM6A_000077" "g.44929026A>G" "" "" "" "KDM6A(NM_001291415.1):c.2282A>G (p.Q761R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45069781A>G" "" "VUS" "" "0000619575" "0" "30" "X" "44929231" "44929231" "subst" "0.000179353" "01943" "KDM6A_000049" "g.44929231T>A" "" "" "" "KDM6A(NM_001291415.1):c.2487T>A (p.N829K), KDM6A(NM_021140.2):c.2331T>A (p.(Asn777Lys)), KDM6A(NM_021140.4):c.2331T>A (p.N777K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45069986T>A" "" "likely benign" "" "0000619576" "0" "50" "X" "44929505" "44929505" "subst" "1.13114E-5" "02325" "KDM6A_000078" "g.44929505G>T" "" "" "" "KDM6A(NM_021140.4):c.2605G>T (p.D869Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070260G>T" "" "VUS" "" "0000619577" "0" "30" "X" "44950080" "44950080" "subst" "1.11963E-5" "01943" "KDM6A_000079" "g.44950080C>T" "" "" "" "KDM6A(NM_001291415.1):c.4005C>T (p.V1335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45090835C>T" "" "likely benign" "" "0000624624" "0" "50" "X" "44966738" "44966738" "subst" "0" "01943" "KDM6A_000080" "g.44966738G>A" "" "" "" "KDM6A(NM_001291415.1):c.4118G>A (p.G1373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45107493G>A" "" "VUS" "" "0000624625" "0" "30" "X" "44970645" "44970645" "subst" "0" "01943" "KDM6A_000081" "g.44970645G>A" "" "" "" "KDM6A(NM_001291415.1):c.4351G>A (p.A1451T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45111400G>A" "" "likely benign" "" "0000653517" "21" "70" "X" "44941821" "44941821" "subst" "0" "03626" "KDM6A_000082" "g.44941821G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45082576G>A" "" "VUS" "" "0000659307" "0" "50" "X" "44923066" "44923066" "subst" "0" "01943" "KDM6A_000083" "g.44923066A>G" "" "" "" "KDM6A(NM_001291415.1):c.2079+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45063821A>G" "" "VUS" "" "0000659308" "0" "50" "X" "44929287" "44929287" "subst" "5.61539E-6" "01943" "KDM6A_000084" "g.44929287C>T" "" "" "" "KDM6A(NM_001291415.1):c.2543C>T (p.T848I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45070042C>T" "" "VUS" "" "0000659309" "0" "30" "X" "44949117" "44949117" "subst" "0.0010639" "02326" "KDM6A_000085" "g.44949117T>C" "" "" "" "KDM6A(NM_001291415.1):c.3834T>C (p.H1278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45089872T>C" "" "likely benign" "" "0000659310" "0" "50" "X" "44966718" "44966718" "subst" "0" "01943" "KDM6A_000086" "g.44966718A>T" "" "" "" "KDM6A(NM_001291415.1):c.4098A>T (p.G1366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45107473A>T" "" "VUS" "" "0000675225" "0" "70" "X" "44918508" "44918508" "subst" "0" "03753" "KDM6A_000090" "g.44918508C>T" "0.04" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682441" "0" "30" "X" "44918237" "44918237" "subst" "0" "02326" "KDM6A_000089" "g.44918237C>T" "" "" "" "KDM6A(NM_001291415.1):c.876-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682442" "0" "10" "X" "44935937" "44935937" "del" "0" "01804" "KDM6A_000017" "g.44935937del" "" "" "" "KDM6A(NM_001291415.1):c.2859-5delT, KDM6A(NM_001291415.2):c.2859-5delT, KDM6A(NM_021140.2):c.2703-16del (p.(=)), KDM6A(NM_021140.4):c.2703-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682443" "0" "70" "X" "44936052" "44936052" "subst" "0" "01943" "KDM6A_000091" "g.44936052C>T" "" "" "" "KDM6A(NM_001291415.1):c.2969C>T (p.P990L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682444" "0" "90" "X" "44969405" "44969405" "subst" "0" "01943" "KDM6A_000092" "g.44969405C>T" "" "" "" "KDM6A(NM_001291415.1):c.4243C>T (p.R1415*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682445" "0" "30" "X" "44969413" "44969413" "subst" "0" "01943" "KDM6A_000093" "g.44969413A>G" "" "" "" "KDM6A(NM_001291415.1):c.4251A>G (p.T1417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682769" "0" "70" "X" "44913185" "44913185" "subst" "0" "03753" "KDM6A_000088" "g.44913185G>A" "0.081" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000693593" "0" "30" "X" "44919356" "44919356" "subst" "3.9582E-5" "02326" "KDM6A_000094" "g.44919356C>T" "" "" "" "KDM6A(NM_001291415.1):c.1284C>T (p.P428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693594" "0" "30" "X" "44920013" "44920013" "subst" "0" "01943" "KDM6A_000095" "g.44920013T>C" "" "" "" "KDM6A(NM_001291415.1):c.1485+4T>C, KDM6A(NM_021140.4):c.1330-556T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694225" "0" "90" "X" "44879925" "44879925" "subst" "0" "00006" "KDM6A_000020" "g.44879925C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.45020680C>T" "" "pathogenic" "ACMG" "0000694226" "0" "70" "X" "44936060" "44936060" "subst" "0" "00006" "KDM6A_000098" "g.44936060C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.45076815C>T" "" "likely pathogenic" "ACMG" "0000694227" "0" "90" "X" "44941876" "44941876" "subst" "0" "00006" "KDM6A_000021" "g.44941876C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.45082631C>A" "" "pathogenic" "ACMG" "0000694228" "0" "70" "X" "44949107" "44949107" "subst" "0" "00006" "KDM6A_000101" "g.44949107G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.45089862G>A" "" "likely pathogenic" "ACMG" "0000694229" "0" "70" "X" "44949994" "44949994" "subst" "0" "00006" "KDM6A_000028" "g.44949994C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.45090749C>T" "" "likely pathogenic" "ACMG" "0000694279" "21" "50" "X" "44894189" "44894189" "subst" "0" "00006" "KDM6A_000096" "g.44894189C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.45034944C>T" "" "VUS" "ACMG" "0000694280" "21" "50" "X" "44911038" "44911038" "subst" "0" "00006" "KDM6A_000097" "g.44911038C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.45051793C>G" "" "VUS" "ACMG" "0000694281" "21" "30" "X" "44938550" "44938550" "subst" "4.47938E-5" "00006" "KDM6A_000099" "g.44938550C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.45079305C>A" "" "likely benign" "ACMG" "0000694282" "21" "50" "X" "44941974" "44941976" "dup" "0" "00006" "KDM6A_000100" "g.44941974_44941976dup" "" "{PMID:Faundes 2018:29276005}" "" "3214_3215insGGA" "" "Germline" "" "" "0" "" "" "g.45082729_45082731dup" "" "VUS" "ACMG" "0000698316" "0" "90" "X" "44918343" "44918343" "subst" "0" "00006" "KDM6A_000102" "g.44918343C>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45059098C>A" "" "pathogenic" "ACMG" "0000703809" "0" "90" "X" "0" "0" "" "0" "00006" "KDM6A_000103" "g.pter_44998235delins[NC_000005.9:g.176906715_qterinv]" "" "{PMID:Lindgren 2013:23354975}" "" "" "" "De novo" "" "" "0" "" "t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn" "" "" "pathogenic" "" "0000703811" "0" "90" "X" "0" "0" "" "0" "00006" "KDM6A_000104" "g.[NC_000005.9:g.176906708_qter]delinspter_44998234inv" "" "{PMID:Lindgren 2013:23354975}" "" "" "" "De novo" "" "" "0" "" "t(X;5)(p11.3;q35.3)inv(5)(q35.3q35.1)dn" "" "" "pathogenic" "" "0000703817" "0" "50" "X" "44706657" "44917073" "dup" "0" "00006" "KDM6A_000107" "g.(?_44706657)_(44917073_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "210 kb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000703818" "0" "90" "X" "" "" "" "" "00006" "KDM6A_000010" "g.(?_41666611)_(45185654(_?)del" "" "{PMID:Lindgren 2013:23354975}" "" "" "3.52 Mb deleion incl. part CASK" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000703819" "0" "90" "X" "42660069" "46378186" "del" "0" "00006" "KDM6A_000010" "g.(?_42660069)_(46378186_?)del" "" "{PMID:Lindgren 2013:23354975}" "" "" "3.72 Mb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000703820" "1" "50" "X" "38965125" "44995301" "dup" "0" "00006" "KDM6A_000105" "g.(?_38965125)_(44995301_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "6.03 Mb duplication inherited from normal parent incl. CASK, DDX3X" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000703821" "0" "90" "X" "43113035" "49496089" "dup" "0" "00006" "KDM6A_000105" "g.(?_43113035)_(49496089_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "6.4 Mb duplication incl. WAS, ARAF, ELK1, PIM2" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000703822" "0" "50" "X" "39976597" "47216121" "dup" "0" "00006" "KDM6A_000105" "g.(?_39976597)_(47216121_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "7.2 Mb duplication incl. CASK, DX3X" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000703823" "0" "90" "X" "41290770" "48859176" "dup" "0" "00006" "KDM6A_000105" "g.(?_41290770)_(48859176_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "7.6 Mb duplication incl. CASK, WAS, ARAF, ELK1, PIM2" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000703824" "0" "90" "X" "40088624" "47947626" "dup" "0" "00006" "KDM6A_000105" "g.(?_40088624)_(47947626_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "7.9 Mb duplication incl. CASK, DDX3X, ARAF, ELK1" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000703825" "0" "50" "X" "44350469" "45063265" "dup" "0" "00006" "KDM6A_000105" "g.(?_44350469)_(45063265_?)dup" "" "{PMID:Lindgren 2013:23354975}" "" "" "713 kb duplication" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000703826" "0" "90" "X" "44573785" "44801459" "del" "0" "00006" "KDM6A_000106" "g.44573785_44801459del" "" "{PMID:Yang 2016:27028180}" "" "" "227 kb deletion" "De novo" "" "" "0" "" "" "g.44714539_44942214del" "" "pathogenic (dominant)" "" "0000703827" "0" "90" "X" "44879855" "44879976" "del" "0" "00006" "KDM6A_000108" "g.(44870266_44879855)_(44879976_44894175)del" "" "{PMID:Banka 2014:24527667}" "" "" "del ex6, c.444-?_564+?del" "Unknown" "" "" "0" "" "" "g.(45011021_45020610)_(45020731_45034930)del" "" "pathogenic (dominant)" "" "0000703828" "0" "90" "X" "44922985" "44922988" "del" "0" "00006" "KDM6A_000007" "g.44922985_44922988del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "" "" "0" "" "" "g.45063740_45063743del" "" "pathogenic (dominant)" "" "0000703829" "21" "90" "X" "44929415" "44929418" "del" "0" "00006" "KDM6A_000111" "g.44929415_44929418del" "" "{PMID:Lederer 2014:24664873}" "" "" "" "Germline" "" "" "0" "" "" "g.45070170_45070173del" "" "pathogenic (dominant)" "" "0000703830" "0" "50" "X" "44938391" "44938391" "subst" "0" "00006" "KDM6A_000006" "g.44938391A>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "" "" "0" "" "" "g.45079146A>T" "" "VUS" "" "0000703831" "0" "90" "X" "44942035" "44942035" "subst" "0" "00006" "KDM6A_000112" "g.44942035G>T" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45082790G>T" "" "pathogenic (dominant)" "" "0000703832" "0" "90" "X" "44942035" "44942035" "subst" "0" "00006" "KDM6A_000112" "g.44942035G>T" "" "{PMID:Morgan 2015:25755104}" "" "" "" "Unknown" "" "" "0" "" "" "g.45082790G>T" "" "pathogenic (dominant)" "" "0000703833" "0" "90" "X" "44942037" "44942040" "del" "0" "00006" "KDM6A_000008" "g.44942037_44942040del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "" "" "0" "" "" "g.45082792_45082795del" "" "pathogenic (dominant)" "" "0000703834" "0" "90" "X" "44945177" "44945177" "del" "0" "00006" "KDM6A_000113" "g.44945177del" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45085932del" "" "pathogenic (dominant)" "" "0000703835" "0" "90" "X" "44945226" "44945226" "subst" "0" "00006" "KDM6A_000114" "g.44945226T>C" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45085981T>C" "" "pathogenic (dominant)" "" "0000703836" "0" "90" "X" "44949177" "44949177" "subst" "0" "00006" "KDM6A_000115" "g.44949177T>C" "" "{PMID:Van Laarhoven 2015:25972376}" "" "" "" "Unknown" "" "" "0" "" "" "g.45089932T>C" "" "pathogenic (dominant)" "" "0000703837" "0" "90" "X" "44950112" "44950115" "del" "0" "00006" "KDM6A_000074" "g.44950112_44950115del" "" "{PMID:Cheon 2014:24739679}" "" "" "" "Unknown" "" "" "0" "" "" "g.45090867_45090870del" "" "pathogenic (dominant)" "" "0000703838" "0" "90" "X" "44950112" "44950115" "del" "0" "00006" "KDM6A_000074" "g.44950112_44950115del" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45090867_45090870del" "" "pathogenic (dominant)" "" "0000703839" "0" "90" "X" "44879925" "44879925" "subst" "0" "00006" "KDM6A_000020" "g.44879925C>T" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45020680C>T" "" "pathogenic (dominant)" "" "0000703840" "0" "90" "X" "44879974" "44879974" "subst" "0" "00006" "KDM6A_000109" "g.44879974A>G" "" "{PMID:Banka 2014:24527667}" "" "" "" "Unknown" "" "" "0" "" "" "g.45020729A>G" "" "pathogenic (dominant)" "" "0000703841" "0" "90" "X" "44913077" "44913077" "subst" "0" "00006" "KDM6A_000110" "g.44913077G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "" "" "Unknown" "" "" "0" "" "" "g.45053832G>A" "" "pathogenic (dominant)" "" "0000728912" "0" "30" "X" "44919287" "44919287" "subst" "0.000106117" "01943" "KDM6A_000116" "g.44919287A>T" "" "" "" "KDM6A(NM_001291415.1):c.1215A>T (p.P405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728913" "0" "50" "X" "44919390" "44919390" "subst" "0" "02325" "KDM6A_000117" "g.44919390A>G" "" "" "" "KDM6A(NM_021140.4):c.1318A>G (p.T440A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728914" "0" "30" "X" "44920574" "44920574" "subst" "2.90271E-5" "01943" "KDM6A_000118" "g.44920574T>G" "" "" "" "KDM6A(NM_001291415.1):c.1491T>G (p.T497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728915" "0" "90" "X" "44922666" "44922666" "subst" "0" "02325" "KDM6A_000119" "g.44922666G>A" "" "" "" "KDM6A(NM_021140.4):c.1528-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728916" "0" "50" "X" "44923001" "44923001" "subst" "0" "01943" "KDM6A_000047" "g.44923001G>A" "" "" "" "KDM6A(NM_001291415.1):c.2018G>A (p.R673H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728917" "0" "50" "X" "44923001" "44923001" "subst" "0" "02329" "KDM6A_000047" "g.44923001G>A" "" "" "" "KDM6A(NM_001291415.1):c.2018G>A (p.R673H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728918" "0" "50" "X" "44923007" "44923007" "subst" "7.24366E-5" "01943" "KDM6A_000120" "g.44923007A>C" "" "" "" "KDM6A(NM_001291415.1):c.2024A>C (p.N675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728919" "0" "70" "X" "44950112" "44950115" "del" "0" "02329" "KDM6A_000074" "g.44950112_44950115del" "" "" "" "KDM6A(NM_001291415.2):c.4032_4034+1delTAAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787542" "1" "50" "X" "44923000" "44923000" "subst" "4.80665E-5" "00000" "KDM6A_000122" "g.44923000C>T" "" "0" "" "" "" "Germline" "" "rs139486036" "0" "" "" "g.45063755C>T" "" "VUS" "" "0000787776" "0" "90" "X" "44931185" "44944596" "delins" "0" "01864" "KDM6A_000121" "g.44931185_44944596delins44940560_44940753inv" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000791063" "0" "70" "X" "44870230" "44870230" "subst" "0" "01164" "KDM6A_000123" "g.44870230G>T" "" "" "" "" "ACMG: PS2, PM2_SUP, PP3" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000810396" "0" "30" "X" "44732837" "44732848" "dup" "0" "01943" "KDM6A_000058" "g.44732837_44732848dup" "" "" "" "KDM6A(NM_001291415.1):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup), KDM6A(NM_001291415.2):c.40_51dupGCCGCCGCCGCT (p.A14_A17dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810397" "0" "30" "X" "44733170" "44733170" "subst" "0.000102433" "01943" "KDM6A_000036" "g.44733170C>T" "" "" "" "KDM6A(NM_001291415.1):c.162C>T (p.S54=), KDM6A(NM_021140.2):c.162C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810398" "0" "50" "X" "44918638" "44918638" "subst" "0" "02329" "KDM6A_000124" "g.44918638G>C" "" "" "" "KDM6A(NM_001291415.1):c.1121G>C (p.C374S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810399" "0" "30" "X" "44935937" "44935937" "dup" "0" "02326" "KDM6A_000125" "g.44935937dup" "" "" "" "KDM6A(NM_001291415.2):c.2859-5dup, KDM6A(NM_021140.3):c.2703-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810400" "0" "70" "X" "44949172" "44949172" "subst" "0" "02327" "KDM6A_000126" "g.44949172A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810401" "0" "30" "X" "44970628" "44970628" "subst" "0" "01943" "KDM6A_000127" "g.44970628C>T" "" "" "" "KDM6A(NM_001291415.1):c.4334C>T (p.A1445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817775" "3" "50" "X" "44920576" "44920576" "subst" "0" "00006" "KDM6A_000128" "g.44920576C>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.45061331C>G" "" "VUS" "ACMG" "0000821042" "0" "90" "X" "44918709" "44918709" "subst" "0" "00006" "KDM6A_000129" "g.44918709C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG PVS1, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.45059464C>T" "" "pathogenic (dominant)" "ACMG" "0000823299" "0" "70" "X" "44949108" "44949108" "dup" "0" "02494" "KDM6A_000130" "g.44949108dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.45089863dup" "" "likely pathogenic (dominant)" "" "0000856618" "0" "90" "X" "44922763" "44922763" "subst" "0" "02325" "KDM6A_000133" "g.44922763C>T" "" "" "" "KDM6A(NM_021140.4):c.1624C>T (p.Q542*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856619" "0" "50" "X" "44922935" "44922935" "subst" "1.1548E-5" "01943" "KDM6A_000134" "g.44922935C>T" "" "" "" "KDM6A(NM_001291415.1):c.1952C>T (p.T651I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856620" "0" "50" "X" "44922997" "44922997" "subst" "0" "02327" "KDM6A_000135" "g.44922997A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856621" "0" "50" "X" "44945202" "44945202" "subst" "0" "01943" "KDM6A_000136" "g.44945202G>A" "" "" "" "KDM6A(NM_001291415.1):c.3682G>A (p.V1228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856622" "0" "50" "X" "44949971" "44949971" "subst" "0" "01943" "KDM6A_000137" "g.44949971G>T" "" "" "" "KDM6A(NM_001291415.1):c.3896G>T (p.C1299F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856623" "0" "50" "X" "44966713" "44966713" "subst" "0" "01943" "KDM6A_000138" "g.44966713G>A" "" "" "" "KDM6A(NM_001291415.1):c.4093G>A (p.A1365T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867376" "0" "30" "X" "44732846" "44732846" "subst" "1.24277E-5" "01943" "KDM6A_000131" "g.44732846G>A" "" "" "" "KDM6A(NM_001291415.1):c.49G>A (p.A17T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867377" "0" "50" "X" "44922719" "44922719" "subst" "5.64605E-6" "02327" "KDM6A_000132" "g.44922719C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881295" "0" "90" "X" "44929546" "44929547" "dup" "0" "02300" "KDM6A_000139" "g.44929546_44929547dup" "" "{PMID:Marinakis 2021:34008892}" "" "c.2645_2646insAC" "ACMG PVS1, PS2, PM1, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.45070301_45070302dup" "" "pathogenic (dominant)" "ACMG" "0000896230" "0" "50" "X" "44910959" "44910959" "subst" "5.96026E-6" "01804" "KDM6A_000140" "g.44910959A>T" "" "" "" "KDM6A(NM_021140.2):c.660A>T (p.(Lys220Asn)), KDM6A(NM_021140.4):c.660A>T (p.K220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896231" "0" "50" "X" "44919310" "44919310" "subst" "0" "02325" "KDM6A_000141" "g.44919310C>T" "" "" "" "KDM6A(NM_021140.4):c.1238C>T (p.T413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896232" "0" "90" "X" "44928882" "44928883" "del" "0" "02329" "KDM6A_000142" "g.44928882_44928883del" "" "" "" "KDM6A(NM_001291415.2):c.2138_2139delCT (p.S713Ffs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896233" "0" "30" "X" "44929231" "44929231" "subst" "0.000179353" "02325" "KDM6A_000049" "g.44929231T>A" "" "" "" "KDM6A(NM_001291415.1):c.2487T>A (p.N829K), KDM6A(NM_021140.2):c.2331T>A (p.(Asn777Lys)), KDM6A(NM_021140.4):c.2331T>A (p.N777K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896234" "0" "50" "X" "44945140" "44945140" "subst" "0" "02325" "KDM6A_000143" "g.44945140T>G" "" "" "" "KDM6A(NM_021140.4):c.3464T>G (p.V1155G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915712" "0" "70" "X" "44937714" "44937714" "subst" "0" "02327" "KDM6A_000144" "g.44937714A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915713" "0" "50" "X" "44938591" "44938591" "subst" "5.62493E-6" "02329" "KDM6A_000145" "g.44938591T>G" "" "" "" "KDM6A(NM_001291415.2):c.3295T>G (p.L1099V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915714" "0" "90" "X" "44942774" "44942776" "del" "0" "02325" "KDM6A_000005" "g.44942774_44942776del" "" "" "" "KDM6A(NM_021140.4):c.3354_3356delTCT (p.L1119del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922684" "21" "90" "X" "0" "0" "" "" "00006" "KDM6A_000146" "g.(?)44818001)_(44826000_?)dup" "" "{PMID:Gostain 2020:32960281}" "" "chrX:44818001-44826000×2" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000927370" "0" "70" "X" "44732872" "44732887" "dup" "0" "02325" "KDM6A_000147" "g.44732872_44732887dup" "" "" "" "KDM6A(NM_021140.4):c.75_90dupGGCGGCGGGAAAAGCG (p.S31Gfs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927371" "0" "30" "X" "44922857" "44922857" "subst" "0.00020806" "02325" "KDM6A_000044" "g.44922857C>T" "" "" "" "KDM6A(NM_001291415.1):c.1874C>T (p.S625F), KDM6A(NM_021140.4):c.1718C>T (p.S573F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927372" "0" "10" "X" "44922982" "44922982" "subst" "0.00172354" "02326" "KDM6A_000148" "g.44922982C>G" "" "" "" "KDM6A(NM_001291415.2):c.1999C>G (p.(Leu667Val)), KDM6A(NM_021140.3):c.1843C>G (p.L615V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927373" "0" "30" "X" "44923077" "44923077" "subst" "0" "02326" "KDM6A_000149" "g.44923077A>G" "" "" "" "KDM6A(NM_021140.3):c.1923+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951759" "0" "50" "X" "44910959" "44910959" "subst" "5.96026E-6" "02325" "KDM6A_000140" "g.44910959A>T" "" "" "" "KDM6A(NM_021140.2):c.660A>T (p.(Lys220Asn)), KDM6A(NM_021140.4):c.660A>T (p.K220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971094" "0" "50" "X" "44929358" "44929358" "subst" "5.61817E-6" "02329" "KDM6A_000151" "g.44929358T>G" "" "" "" "KDM6A(NM_001291415.2):c.2614T>G (p.S872A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972357" "0" "70" "X" "44929203" "44929203" "subst" "0" "00006" "KDM6A_000155" "g.44929203A>C" "" "{PMID:Chen 2024:38621993}" "" "NP_001278345.1:p.(K775T)" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.45069958A>C" "" "likely pathogenic (dominant)" "" "0000972358" "0" "70" "X" "44969397" "44969397" "subst" "1.12004E-5" "00006" "KDM6A_000158" "g.44969397A>G" "" "{PMID:Chen 2024:38621993}" "" "NP_001278344.1:p.(D1412G)" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.45110152A>G" "" "likely pathogenic (dominant)" "" "0000984684" "0" "30" "X" "44732845" "44732847" "dup" "0" "01804" "KDM6A_000059" "g.44732845_44732847dup" "" "" "" "KDM6A(NM_001291415.1):c.48_50dupCGC (p.A17dup), KDM6A(NM_001291415.2):c.48_50dup (p.(Ala17dup)), KDM6A(NM_021140.4):c.48_50dupCGC (p.A17dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984685" "0" "30" "X" "44740068" "44740069" "ins" "0" "01804" "KDM6A_000152" "g.44740068_44740069insTTGA" "" "" "" "KDM6A(NM_001291415.2):c.225+6835_225+6836insTTGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984686" "0" "30" "X" "44847383" "44847383" "subst" "0" "01804" "KDM6A_000153" "g.44847383C>T" "" "" "" "KDM6A(NM_001291415.2):c.384+13423C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984687" "0" "30" "X" "44879848" "44879848" "subst" "5.60566E-5" "02326" "KDM6A_000062" "g.44879848C>T" "" "" "" "KDM6A(NM_021140.2):c.444-7C>T (p.?), KDM6A(NM_021140.3):c.444-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984688" "0" "70" "X" "44913196" "44913196" "subst" "5.59641E-6" "01804" "KDM6A_000154" "g.44913196G>A" "" "" "" "KDM6A(NM_001291415.2):c.871G>A (p.(Gly291Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984689" "0" "30" "X" "44922880" "44922880" "subst" "0.00174053" "01804" "KDM6A_000045" "g.44922880A>G" "" "" "" "KDM6A(NM_001291415.1):c.1897A>G (p.T633A), KDM6A(NM_001291415.2):c.1897A>G (p.(Thr633Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984690" "0" "30" "X" "44922982" "44922982" "subst" "0.00172354" "01804" "KDM6A_000148" "g.44922982C>G" "" "" "" "KDM6A(NM_001291415.2):c.1999C>G (p.(Leu667Val)), KDM6A(NM_021140.3):c.1843C>G (p.L615V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984691" "0" "10" "X" "44935936" "44935937" "del" "0" "02326" "KDM6A_000016" "g.44935936_44935937del" "" "" "" "KDM6A(NM_021140.3):c.2703-6_2703-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984692" "0" "30" "X" "44935937" "44935937" "dup" "0" "01804" "KDM6A_000125" "g.44935937dup" "" "" "" "KDM6A(NM_001291415.2):c.2859-5dup, KDM6A(NM_021140.3):c.2703-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984693" "0" "50" "X" "44936001" "44936001" "subst" "0" "02327" "KDM6A_000156" "g.44936001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984694" "0" "10" "X" "44952273" "44952273" "del" "0" "01804" "KDM6A_000157" "g.44952273del" "" "" "" "KDM6A(NM_001291415.2):c.226-8996del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006760" "0" "50" "X" "44928992" "44928992" "subst" "0" "01804" "KDM6A_000159" "g.44928992C>T" "" "" "" "KDM6A(NM_021140.2):c.2092C>T (p.(His698Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006761" "0" "30" "X" "44929077" "44929077" "subst" "0.000214762" "01804" "KDM6A_000160" "g.44929077C>T" "" "" "" "KDM6A(NM_021140.2):c.2177C>T (p.(Thr726Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006762" "0" "50" "X" "44929524" "44929524" "subst" "0" "01804" "KDM6A_000161" "g.44929524A>G" "" "" "" "KDM6A(NM_021140.2):c.2624A>G (p.(His875Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006763" "0" "70" "X" "44950110" "44950110" "subst" "0" "02327" "KDM6A_000162" "g.44950110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001016033" "0" "30" "X" "44935937" "44935937" "del" "0" "02327" "KDM6A_000017" "g.44935937del" "" "" "" "KDM6A(NM_001291415.1):c.2859-5delT, KDM6A(NM_001291415.2):c.2859-5delT, KDM6A(NM_021140.2):c.2703-16del (p.(=)), KDM6A(NM_021140.4):c.2703-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027499" "0" "30" "X" "44920013" "44920013" "subst" "0" "02325" "KDM6A_000095" "g.44920013T>C" "" "" "" "KDM6A(NM_001291415.1):c.1485+4T>C, KDM6A(NM_021140.4):c.1330-556T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027500" "0" "50" "X" "44929154" "44929154" "subst" "1.12493E-5" "02325" "KDM6A_000163" "g.44929154C>T" "" "" "" "KDM6A(NM_021140.4):c.2254C>T (p.H752Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044339" "0" "50" "X" "44894228" "44894228" "subst" "0" "01804" "KDM6A_000164" "g.44894228A>C" "" "" "" "KDM6A(NM_001291415.2):c.617A>C (p.(Glu206Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044340" "0" "30" "X" "44928068" "44928068" "subst" "0" "01804" "KDM6A_000165" "g.44928068T>C" "" "" "" "KDM6A(NM_001291415.2):c.2080-756T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044341" "0" "50" "X" "44929155" "44929155" "subst" "0" "01804" "KDM6A_000166" "g.44929155A>C" "" "" "" "KDM6A(NM_001291415.2):c.2411A>C (p.(His804Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044342" "0" "50" "X" "44938384" "44938384" "subst" "0" "01804" "KDM6A_000167" "g.44938384C>A" "" "" "" "KDM6A(NM_001291415.2):c.3095-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044343" "0" "50" "X" "44969337" "44969337" "subst" "1.12072E-5" "01804" "KDM6A_000168" "g.44969337A>G" "" "" "" "KDM6A(NM_001291415.2):c.4175A>G (p.(Asp1392Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048351" "0" "70" "X" "44929462" "44929465" "del" "0" "03544" "KDM6A_000169" "g.44929462_44929465del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.45070217_45070220del" "{CV:4087712}" "likely pathogenic" "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 KDM6A ## Count = 206 "{{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}}" "0000002901" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5del" "r.(?)" "p.(=)" "17i" "0000006660" "00000812" "30" "335" "-70" "335" "-70" "c.335-70C>A" "r.(?)" "p.(=)" "3i" "0000006661" "00000812" "30" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Gln1037=)" "20" "0000008715" "00000812" "30" "335" "-70" "335" "-70" "c.335-70C>A" "r.(?)" "p.(=)" "3i" "0000008716" "00000812" "30" "2703" "-6" "2703" "-5" "c.2703-6_2703-5del" "r.(?)" "p.(=)" "17i" "0000008717" "00000812" "30" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Gln1037=)" "20" "0000010903" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5del" "r.(?)" "p.(=)" "17i" "0000079355" "00000812" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "6" "0000079548" "00000812" "90" "3200" "0" "3200" "0" "c.3200C>A" "r.(?)" "p.(Ser1067*)" "21" "0000117152" "00000812" "50" "2177" "0" "2177" "0" "c.2177C>A" "r.(?)" "p.(Thr726Lys)" "17" "0000117153" "00000812" "30" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Gln1037=)" "20" "0000117154" "00000812" "90" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Arg519*)" "6" "0000117155" "00000812" "90" "3717" "0" "3717" "0" "c.3717G>A" "r.(?)" "p.(Trp1239*)" "25" "0000117156" "00000812" "90" "3354" "0" "3356" "0" "c.3354_3356del" "r.(?)" "p.(Leu1119del)" "23" "0000117157" "00000812" "90" "2939" "0" "2939" "0" "c.2939A>T" "r.(spl?)" "p.(Asp980Val)" "20" "0000117158" "00000812" "90" "1846" "0" "1849" "0" "c.1846_1849del" "r.(?)" "p.(Thr616Tyrfs*8)" "16" "0000117159" "00000812" "70" "3284" "3" "3284" "6" "c.3284+3_3284+6del" "r.spl?" "p.?" "22i" "0000117160" "00000812" "90" "3145" "-1" "5397" "0" "c.(3144+1_3145-1)_(*1191_?)del" "r.?" "p.?" "20i_29_" "0000117161" "00000812" "90" "0" "0" "0" "0" "c.-375_*1191{0}" "r.0" "p.0" "_1_29_" "0000117162" "00000812" "90" "385" "-1" "748" "1" "c.(384+1_385-1)_(748+1_749-1)del" "r.(del)" "p.?" "4i_9i" "0000117163" "00000812" "90" "1909" "0" "1912" "0" "c.1909_1912del" "r.1909_1912del" "p.Ser637Thrfs*53" "16" "0000117164" "00000812" "90" "4051" "0" "4051" "0" "c.4051C>T" "r.4051c>u" "p.Arg1351*" "28" "0000117165" "00000812" "90" "3835" "0" "3835" "0" "c.3835C>T" "r.(?)" "p.(Arg1279*)" "26" "0000117166" "00000812" "90" "171" "0" "171" "0" "c.171dup" "r.(?)" "p.(Gly58Trpfs*7)" "2" "0000117167" "00000812" "90" "190" "0" "190" "0" "c.190G>T" "r.(?)" "p.(Glu64*)" "2" "0000117168" "00000812" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "6" "0000117169" "00000812" "90" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Gln1037*)" "20" "0000117170" "00000812" "90" "2226" "0" "2227" "0" "c.2226_2227dup" "r.(?)" "p.(Ser743Thrfs*13)" "17" "0000117171" "00000812" "50" "2729" "0" "2729" "0" "c.2729A>G" "r.(?)" "p.(Asn910Ser)" "18" "0000117172" "00000812" "90" "3073" "0" "3073" "0" "c.3073A>G" "r.(?)" "p.(Ser1025Gly)" "20" "0000117173" "00000812" "90" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Arg1255Trp)" "26" "0000117174" "00000812" "90" "443" "5" "443" "5" "c.443+5G>C" "r.spl?" "p.(?)" "5i" "0000117175" "00000812" "90" "619" "6" "619" "6" "c.619+6T>C" "r.spl?" "p.(?)" "7i" "0000117176" "00000812" "90" "620" "-2" "620" "-2" "c.620-2A>G" "r.spl" "p.?" "7i" "0000117177" "00000812" "90" "2832" "1" "2832" "1" "c.2832+1G>A" "r.spl" "p.?" "18i" "0000253589" "00000812" "10" "5" "0" "5" "0" "c.5A>G" "r.(?)" "p.(Lys2Arg)" "" "0000255104" "00000812" "30" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Thr581Ala)" "" "0000281768" "00000812" "30" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Thr584Met)" "" "0000281769" "00000812" "10" "2703" "-5" "2703" "-5" "c.2703-5del" "r.spl?" "p.?" "" "0000281770" "00000812" "10" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Gln1037=)" "" "0000285786" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5del" "r.spl?" "p.?" "" "0000290146" "00000812" "50" "1324" "0" "1324" "0" "c.1324C>A" "r.(?)" "p.(Gln442Lys)" "" "0000290147" "00000812" "30" "1527" "3" "1527" "3" "c.1527+3G>A" "r.spl?" "p.?" "" "0000290148" "00000812" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0000290149" "00000812" "30" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Thr584Met)" "" "0000290150" "00000812" "30" "1973" "0" "1973" "0" "c.1973G>A" "r.(?)" "p.(Arg658Gln)" "" "0000290151" "00000812" "50" "2732" "0" "2732" "0" "c.2732G>C" "r.(?)" "p.(Ser911Thr)" "" "0000333836" "00000812" "50" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Ser54=)" "" "0000333838" "00000812" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "0000333841" "00000812" "30" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Thr584Met)" "" "0000333843" "00000812" "50" "2331" "0" "2331" "0" "c.2331T>A" "r.(?)" "p.(Asn777Lys)" "" "0000338121" "00000812" "90" "975" "-1" "975" "-1" "c.975-1G>A" "r.spl?" "p.?" "" "0000340103" "00000812" "10" "3111" "0" "3111" "0" "c.3111G>A" "r.(?)" "p.(Gln1037=)" "" "0000344413" "00000812" "10" "1402" "0" "1402" "0" "c.1402T>C" "r.(?)" "p.(Cys468Arg)" "" "0000344845" "00000812" "50" "1324" "0" "1324" "0" "c.1324C>A" "r.(?)" "p.(Gln442Lys)" "" "0000347506" "00000812" "30" "823" "0" "823" "0" "c.823A>G" "r.(?)" "p.(Lys275Glu)" "" "0000408764" "00000812" "90" "2263" "0" "2272" "0" "c.2263_2272del" "r.(?)" "p.(Thr755Leufs*16)" "16" "0000470174" "00000812" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475*)" "" "0000576024" "00000812" "30" "40" "0" "51" "0" "c.40_51dup" "r.(?)" "p.(Ala14_Ala17dup)" "" "0000576025" "00000812" "10" "48" "0" "50" "0" "c.48_50dup" "r.(?)" "p.(Ala17dup)" "" "0000576026" "00000812" "10" "48" "0" "50" "0" "c.48_50dup" "r.(?)" "p.(Ala17dup)" "" "0000576028" "00000812" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Ala30Thr)" "" "0000576029" "00000812" "50" "401" "0" "401" "0" "c.401A>G" "r.(?)" "p.(Tyr134Cys)" "" "0000576030" "00000812" "30" "444" "-7" "444" "-7" "c.444-7C>T" "r.(=)" "p.(=)" "" "0000576031" "00000812" "30" "749" "-5" "749" "-5" "c.749-5dup" "r.spl?" "p.?" "" "0000576032" "00000812" "30" "1402" "0" "1402" "0" "c.1402T>C" "r.(?)" "p.(Cys468Arg)" "" "0000576034" "00000812" "30" "1527" "3" "1527" "3" "c.1527+3G>A" "r.spl?" "p.?" "" "0000576036" "00000812" "10" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Thr584Met)" "" "0000576037" "00000812" "30" "1792" "0" "1792" "0" "c.1792A>G" "r.(?)" "p.(Ile598Val)" "" "0000576038" "00000812" "50" "1823" "0" "1823" "0" "c.1823C>T" "r.(?)" "p.(Pro608Leu)" "" "0000576040" "00000812" "50" "2402" "0" "2402" "0" "c.2402A>G" "r.(?)" "p.(Asn801Ser)" "" "0000576041" "00000812" "50" "2423" "0" "2423" "0" "c.2423A>G" "r.(?)" "p.(His808Arg)" "" "0000576042" "00000812" "90" "2503" "0" "2503" "0" "c.2503C>T" "r.(?)" "p.(Gln835Ter)" "" "0000576043" "00000812" "30" "2689" "0" "2689" "0" "c.2689C>G" "r.(?)" "p.(Leu897Val)" "" "0000576044" "00000812" "10" "2703" "-16" "2703" "-16" "c.2703-16T>C" "r.(=)" "p.(=)" "" "0000576046" "00000812" "30" "3105" "0" "3105" "0" "c.3105T>C" "r.(?)" "p.(Tyr1035=)" "" "0000576047" "00000812" "70" "3549" "-1" "3549" "-1" "c.3549-1G>A" "r.spl?" "p.?" "" "0000576049" "00000812" "30" "4052" "0" "4052" "0" "c.4052G>A" "r.(?)" "p.(Arg1351Gln)" "" "0000619573" "00000812" "30" "1523" "0" "1523" "0" "c.1523A>G" "r.(?)" "p.(His508Arg)" "" "0000619574" "00000812" "50" "2126" "0" "2126" "0" "c.2126A>G" "r.(?)" "p.(Gln709Arg)" "" "0000619575" "00000812" "30" "2331" "0" "2331" "0" "c.2331T>A" "r.(?)" "p.(Asn777Lys)" "" "0000619576" "00000812" "50" "2605" "0" "2605" "0" "c.2605G>T" "r.(?)" "p.(Asp869Tyr)" "" "0000619577" "00000812" "30" "3849" "0" "3849" "0" "c.3849C>T" "r.(?)" "p.(Val1283=)" "" "0000624624" "00000812" "50" "3962" "0" "3962" "0" "c.3962G>A" "r.(?)" "p.(Gly1321Glu)" "" "0000624625" "00000812" "30" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Ala1399Thr)" "" "0000653517" "00000812" "70" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Glu1049Lys)" "21" "0000659307" "00000812" "50" "1923" "4" "1923" "4" "c.1923+4A>G" "r.spl?" "p.?" "" "0000659308" "00000812" "50" "2387" "0" "2387" "0" "c.2387C>T" "r.(?)" "p.(Thr796Ile)" "" "0000659309" "00000812" "30" "3678" "0" "3678" "0" "c.3678T>C" "r.(?)" "p.(His1226=)" "" "0000659310" "00000812" "50" "3942" "0" "3942" "0" "c.3942A>T" "r.(?)" "p.(Gly1314=)" "" "0000675225" "00000812" "70" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Gln331*)" "" "0000682441" "00000812" "30" "876" "-14" "876" "-14" "c.876-14C>T" "r.(=)" "p.(=)" "" "0000682442" "00000812" "10" "2703" "-5" "2703" "-5" "c.2703-5del" "r.spl?" "p.?" "" "0000682443" "00000812" "70" "2813" "0" "2813" "0" "c.2813C>T" "r.(?)" "p.(Pro938Leu)" "" "0000682444" "00000812" "90" "4087" "0" "4087" "0" "c.4087C>T" "r.(?)" "p.(Arg1363Ter)" "" "0000682445" "00000812" "30" "4095" "0" "4095" "0" "c.4095A>G" "r.(?)" "p.(Thr1365=)" "" "0000682769" "00000812" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Trp287*)" "" "0000693593" "00000812" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Pro428=)" "" "0000693594" "00000812" "30" "1330" "-556" "1330" "-556" "c.1330-556T>C" "r.(=)" "p.(=)" "" "0000694225" "00000812" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "" "0000694226" "00000812" "70" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Pro941Ser)" "" "0000694227" "00000812" "90" "3200" "0" "3200" "0" "c.3200C>A" "r.(?)" "p.(Ser1067*)" "" "0000694228" "00000812" "70" "3668" "0" "3668" "0" "c.3668G>A" "r.(?)" "p.(Gly1223Asp)" "" "0000694229" "00000812" "70" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Arg1255Trp)" "" "0000694279" "00000812" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ala193Val)" "" "0000694280" "00000812" "50" "739" "0" "739" "0" "c.739C>G" "r.(?)" "p.(Gln247Glu)" "" "0000694281" "00000812" "30" "3098" "0" "3098" "0" "c.3098C>A" "r.(?)" "p.(Ala1033Asp)" "" "0000694282" "00000812" "50" "3224" "0" "3226" "0" "c.3224_3226dup" "r.(?)" "p.(Arg1075dup)" "" "0000698316" "00000812" "90" "968" "0" "968" "0" "c.968C>A" "r.(?)" "p.(Ser323* )" "10" "0000703809" "00000812" "90" "0" "0" "0" "0" "c.-375_225+26501{0}ins?" "r.?" "p.?" "2i" "0000703811" "00000812" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "2i" "0000703817" "00000812" "50" "" "0" "" "0" "c.-375_(875+1_876-1178){2}" "r.?" "p.?" "_1_10i" "0000703818" "00000812" "90" "" "0" "" "0" "c.-375_*1191{0}" "r.0" "p.0" "_1_29_" "0000703819" "00000812" "90" "" "0" "" "0" "c.-375_*1191{0}" "r.0" "p.0" "_1_29_" "0000703820" "00000812" "50" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703821" "00000812" "90" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703822" "00000812" "50" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703823" "00000812" "90" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703824" "00000812" "90" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703825" "00000812" "50" "" "0" "" "0" "c.-375_*1191{2}" "r.?" "p.?" "_1_29_" "0000703826" "00000812" "90" "" "0" "" "0" "c.-375_226-19070{0}" "r.?" "p.?" "_1_2i" "0000703827" "00000812" "90" "444" "-1" "564" "1" "c.(443+1_444-1)_(564+1_565-1)del" "r.?" "p.?" "5i_6i" "0000703828" "00000812" "90" "1846" "0" "1849" "0" "c.1846_1849del" "r.(?)" "p.(Thr616Tyrfs*8)" "16" "0000703829" "00000812" "90" "2515" "0" "2518" "0" "c.2515_2518del" "r.(?)" "p.(Asn839Valfs*27)" "17" "0000703830" "00000812" "50" "2939" "0" "2939" "0" "c.2939A>T" "r.(?)" "p.(Asp980Val)" "19" "0000703831" "00000812" "90" "3284" "1" "3284" "1" "c.3284+1G>T" "r.spl" "p.?" "22i" "0000703832" "00000812" "90" "3284" "1" "3284" "1" "c.3284+1G>T" "r.spl" "p.?" "22i" "0000703833" "00000812" "90" "3284" "3" "3284" "6" "c.3284+3_3284+6del" "r.spl" "p.?" "22i" "0000703834" "00000812" "90" "3501" "0" "3501" "0" "c.3501del" "r.(?)" "p.(Phe1167Leufs*11)" "24" "0000703835" "00000812" "90" "3548" "2" "3548" "2" "c.3548+2T>C" "r.spl" "p.?" "24i" "0000703836" "00000812" "90" "3736" "2" "3736" "2" "c.3736+2T>C" "r.spl" "p.?" "25i" "0000703837" "00000812" "90" "3876" "0" "3878" "1" "c.3876_3878+1del" "r.spl" "p.?" "26i" "0000703838" "00000812" "90" "3878" "3" "3878" "6" "c.3878+3_3878+6del" "r.spl" "p.?" "26i" "0000703839" "00000812" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172*)" "6" "0000703840" "00000812" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Lys188Arg)" "6" "0000703841" "00000812" "90" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Trp251*)" "10" "0000728912" "00000812" "30" "1215" "0" "1215" "0" "c.1215A>T" "r.(?)" "p.(Pro405=)" "" "0000728913" "00000812" "50" "1318" "0" "1318" "0" "c.1318A>G" "r.(?)" "p.(Thr440Ala)" "" "0000728914" "00000812" "30" "1335" "0" "1335" "0" "c.1335T>G" "r.(?)" "p.(Thr445=)" "" "0000728915" "00000812" "90" "1528" "-1" "1528" "-1" "c.1528-1G>A" "r.spl?" "p.?" "" "0000728916" "00000812" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000728917" "00000812" "50" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621His)" "" "0000728918" "00000812" "50" "1868" "0" "1868" "0" "c.1868A>C" "r.(?)" "p.(Asn623Thr)" "" "0000728919" "00000812" "70" "3878" "3" "3878" "6" "c.3878+3_3878+6del" "r.spl?" "p.?" "" "0000787542" "00000812" "50" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621Cys)" "16" "0000787776" "00000812" "90" "2858" "1583" "3590" "-514" "c.2858+1583_3590-514delins3301-1261_3301-1068inv" "r.?" "p.?" "" "0000791063" "00000812" "70" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Gly137Cys)" "" "0000810396" "00000812" "30" "40" "0" "51" "0" "c.40_51dup" "r.(?)" "p.(Ala14_Ala17dup)" "" "0000810397" "00000812" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Ser54=)" "" "0000810398" "00000812" "50" "1121" "0" "1121" "0" "c.1121G>C" "r.(?)" "p.(Cys374Ser)" "" "0000810399" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5dup" "r.spl?" "p.?" "" "0000810400" "00000812" "70" "3733" "0" "3733" "0" "c.3733A>C" "r.(?)" "p.(Thr1245Pro)" "" "0000810401" "00000812" "30" "4178" "0" "4178" "0" "c.4178C>T" "r.(?)" "p.(Ala1393Val)" "" "0000817775" "00000812" "50" "1337" "0" "1337" "0" "c.1337C>G" "r.(?)" "p.(Ser446Cys)" "" "0000821042" "00000812" "90" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398Ter)" "12" "0000823299" "00000812" "70" "3669" "0" "3669" "0" "c.3669dup" "r.(?)" "p.(Thr1224Hisfs*27)" "" "0000856618" "00000812" "90" "1624" "0" "1624" "0" "c.1624C>T" "r.(?)" "p.(Gln542*)" "" "0000856619" "00000812" "50" "1796" "0" "1796" "0" "c.1796C>T" "r.(?)" "p.(Thr599Ile)" "" "0000856620" "00000812" "50" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Asn620Asp)" "" "0000856621" "00000812" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Val1176Ile)" "" "0000856622" "00000812" "50" "3740" "0" "3740" "0" "c.3740G>T" "r.(?)" "p.(Cys1247Phe)" "" "0000856623" "00000812" "50" "3937" "0" "3937" "0" "c.3937G>A" "r.(?)" "p.(Ala1313Thr)" "" "0000867376" "00000812" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Ala17Thr)" "" "0000867377" "00000812" "50" "1580" "0" "1580" "0" "c.1580C>G" "r.(?)" "p.(Pro527Arg)" "" "0000881295" "00000812" "90" "2646" "0" "2647" "0" "c.2646_2647dup" "r.(?)" "p.(Pro883HisfsTer16)" "" "0000896230" "00000812" "50" "660" "0" "660" "0" "c.660A>T" "r.(?)" "p.(Lys220Asn)" "" "0000896231" "00000812" "50" "1238" "0" "1238" "0" "c.1238C>T" "r.(?)" "p.(Thr413Ile)" "" "0000896232" "00000812" "90" "1982" "0" "1983" "0" "c.1982_1983del" "r.(?)" "p.(Ser661Phefs*26)" "" "0000896233" "00000812" "30" "2331" "0" "2331" "0" "c.2331T>A" "r.(?)" "p.(Asn777Lys)" "" "0000896234" "00000812" "50" "3464" "0" "3464" "0" "c.3464T>G" "r.(?)" "p.(Val1155Gly)" "" "0000915712" "00000812" "70" "2902" "0" "2902" "0" "c.2902A>C" "r.(?)" "p.(Thr968Pro)" "" "0000915713" "00000812" "50" "3139" "0" "3139" "0" "c.3139T>G" "r.(?)" "p.(Leu1047Val)" "" "0000915714" "00000812" "90" "3354" "0" "3356" "0" "c.3354_3356del" "r.(?)" "p.(Leu1119del)" "" "0000922684" "00000812" "90" "226" "-2528" "334" "5363" "c.(225+1_226-2528)_(334+5363_335-1)dup" "r.?" "p.?" "" "0000927370" "00000812" "70" "75" "0" "90" "0" "c.75_90dup" "r.(?)" "p.(Ser31Glyfs*39)" "" "0000927371" "00000812" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0000927372" "00000812" "10" "1843" "0" "1843" "0" "c.1843C>G" "r.(?)" "p.(Leu615Val)" "" "0000927373" "00000812" "30" "1923" "15" "1923" "15" "c.1923+15A>G" "r.(=)" "p.(=)" "" "0000951759" "00000812" "50" "660" "0" "660" "0" "c.660A>T" "r.(?)" "p.(Lys220Asn)" "" "0000971094" "00000812" "50" "2458" "0" "2458" "0" "c.2458T>G" "r.(?)" "p.(Ser820Ala)" "" "0000972357" "00000812" "70" "2303" "0" "2303" "0" "c.2303A>C" "r.(?)" "p.(Lys768Thr)" "" "0000972358" "00000812" "70" "4079" "0" "4079" "0" "c.4079A>G" "r.(?)" "p.(Asp1360Gly)" "" "0000984684" "00000812" "30" "48" "0" "50" "0" "c.48_50dup" "r.(?)" "p.(Ala17dup)" "" "0000984685" "00000812" "30" "225" "6835" "225" "6836" "c.225+6835_225+6836insTTGA" "r.(=)" "p.(=)" "" "0000984686" "00000812" "30" "384" "13423" "384" "13423" "c.384+13423C>T" "r.(=)" "p.(=)" "" "0000984687" "00000812" "30" "444" "-7" "444" "-7" "c.444-7C>T" "r.(=)" "p.(=)" "" "0000984688" "00000812" "70" "871" "0" "871" "0" "c.871G>A" "r.(?)" "p.(Gly291Arg)" "" "0000984689" "00000812" "30" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Thr581Ala)" "" "0000984690" "00000812" "30" "1843" "0" "1843" "0" "c.1843C>G" "r.(?)" "p.(Leu615Val)" "" "0000984691" "00000812" "10" "2703" "-6" "2703" "-5" "c.2703-6_2703-5del" "r.spl?" "p.?" "" "0000984692" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5dup" "r.spl?" "p.?" "" "0000984693" "00000812" "50" "2762" "0" "2762" "0" "c.2762C>T" "r.(?)" "p.(Pro921Leu)" "" "0000984694" "00000812" "10" "3878" "2164" "3878" "2164" "c.3878+2164del" "r.(=)" "p.(=)" "" "0001006760" "00000812" "50" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(His698Tyr)" "" "0001006761" "00000812" "30" "2177" "0" "2177" "0" "c.2177C>T" "r.(?)" "p.(Thr726Met)" "" "0001006762" "00000812" "50" "2624" "0" "2624" "0" "c.2624A>G" "r.(?)" "p.(His875Arg)" "" "0001006763" "00000812" "70" "3878" "1" "3878" "1" "c.3878+1G>A" "r.spl?" "p.?" "" "0001016033" "00000812" "30" "2703" "-5" "2703" "-5" "c.2703-5del" "r.spl?" "p.?" "" "0001027499" "00000812" "30" "1330" "-556" "1330" "-556" "c.1330-556T>C" "r.(=)" "p.(=)" "" "0001027500" "00000812" "50" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(His752Tyr)" "" "0001044339" "00000812" "50" "617" "0" "617" "0" "c.617A>C" "r.(?)" "p.(Glu206Ala)" "" "0001044340" "00000812" "30" "1924" "-756" "1924" "-756" "c.1924-756T>C" "r.(=)" "p.(=)" "" "0001044341" "00000812" "50" "2255" "0" "2255" "0" "c.2255A>C" "r.(?)" "p.(His752Pro)" "" "0001044342" "00000812" "50" "2939" "-7" "2939" "-7" "c.2939-7C>A" "r.(=)" "p.(=)" "" "0001044343" "00000812" "50" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Asp1340Gly)" "" "0001048351" "00000812" "70" "2562" "0" "2565" "0" "c.2562_2565del" "r.(?)" "p.(Ile854Metfs*12)" "17" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002901" "0000000209" "0000006660" "0000000209" "0000006661" "0000000210" "0000008715" "0000000210" "0000008716" "0000000210" "0000008717" "0000000210" "0000010903" "0000050375" "0000079355" "0000050568" "0000079548" "0000073467" "0000117152" "0000073468" "0000117153" "0000073469" "0000117154" "0000073470" "0000117155" "0000073471" "0000117156" "0000073472" "0000117157" "0000073473" "0000117158" "0000073474" "0000117159" "0000073475" "0000117160" "0000073476" "0000117161" "0000073477" "0000117162" "0000073478" "0000117163" "0000073479" "0000117164" "0000073480" "0000117165" "0000073481" "0000117166" "0000073482" "0000117167" "0000073483" "0000117168" "0000073484" "0000117169" "0000073485" "0000117170" "0000073486" "0000117171" "0000073487" "0000117172" "0000073488" "0000117173" "0000073489" "0000117174" "0000073490" "0000117175" "0000073491" "0000117176" "0000073492" "0000117177" "0000184641" "0000408764" "0000229032" "0000470174" "0000296806" "0000653517" "0000308287" "0000675225" "0000308403" "0000682769" "0000312621" "0000694225" "0000312622" "0000694226" "0000312623" "0000694227" "0000312624" "0000694228" "0000312625" "0000694229" "0000312675" "0000694279" "0000312676" "0000694280" "0000312677" "0000694281" "0000312678" "0000694282" "0000316166" "0000698316" "0000321041" "0000703809" "0000321041" "0000703811" "0000321046" "0000703817" "0000321047" "0000703818" "0000321048" "0000703819" "0000321049" "0000703820" "0000321050" "0000703821" "0000321051" "0000703822" "0000321052" "0000703823" "0000321053" "0000703824" "0000321054" "0000703825" "0000321055" "0000703826" "0000321056" "0000703827" "0000321057" "0000703828" "0000321058" "0000703829" "0000321059" "0000703830" "0000321060" "0000703831" "0000321061" "0000703832" "0000321062" "0000703833" "0000321063" "0000703834" "0000321064" "0000703835" "0000321065" "0000703836" "0000321066" "0000703837" "0000321067" "0000703838" "0000321068" "0000703839" "0000321069" "0000703840" "0000321070" "0000703841" "0000374971" "0000787776" "0000375774" "0000787542" "0000378339" "0000791063" "0000388982" "0000817775" "0000391304" "0000821042" "0000392834" "0000823299" "0000420936" "0000881295" "0000436322" "0000922684" "0000450382" "0000972357" "0000450383" "0000972358" "0000468514" "0001048351"