### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DDX3X) # 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}}" "DDX3X" "DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked" "X" "p11.3-p11.23" "unknown" "NG_012830.2" "UD_132085283765" "" "https://www.LOVD.nl/DDX3X" "" "1" "2745" "1654" "300160" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/DDX3X_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2019-02-06 13:54:35" "00000" "2025-12-26 14:07:03" ## 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}}" "00024249" "DDX3X" "DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked, transcript variant 1" "002" "NM_001356.3" "" "NP_001347.3" "" "" "" "-855" "4544" "1989" "41192651" "41209527" "00006" "2017-04-22 16:09:41" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00819" "AUTSX2" "mental retardation, X-linked (MRXS)" "XL;Mu;IC" "300495" "" "" "" "00006" "2014-09-25 23:29:40" "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" "04440" "MRXSSB" "Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type" "XLD;XLR" "300958" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DDX3X" "04440" ## Individuals ## Do not remove or alter this header ## ## Count = 98 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050372" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050383" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050567" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050602" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00103878" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6062_1" "00103879" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5765_1" "00103903" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5749_1" "00151420" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00164709" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00172396" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00219099" "" "" "" "1" "" "03197" "" "" "F" "-" "Italy" "13y" "0" "no" "" "white" "Patient 3" "00219101" "" "" "" "1" "" "03197" "" "" "F" "no" "Italy" "18y" "0" "no" "" "white" "Patient 1" "00219102" "" "" "" "1" "" "03197" "" "" "F" "no" "Italy" "14y" "0" "no" "" "white" "Patient 2" "00219136" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind1" "00219137" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind2" "00219138" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "" "" "0" "" "" "" "26235985-Ind7" "00219139" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "" "" "0" "" "" "" "26235985-Ind8" "00219140" "" "" "" "1" "" "00006" "{PMID:Rauch 2012:23020937}" "" "F" "" "Germany" "" "0" "" "" "" "DD15743" "00219141" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind10" "00219142" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind11" "00219143" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind12" "00219144" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "" "" "0" "" "" "" "26235985-Ind13" "00219145" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind14" "00219146" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind15" "00219147" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind16" "00219148" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "Netherlands" "" "0" "" "" "" "26235985-Ind17" "00219149" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind18" "00219150" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "" "" "0" "" "" "" "26235985-Ind19" "00219151" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind20" "00219152" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind21" "00219153" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind22" "00219154" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind23" "00219155" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind24" "00219156" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind25" "00219157" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind26" "00219158" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind27" "00219159" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind28" "00219160" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind29" "00219161" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United States" "" "0" "" "" "" "26235985-Ind30" "00219162" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind31" "00219163" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind32" "00219164" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind33" "00219165" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind34" "00219166" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind35" "00219167" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind36" "00219168" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind37" "00219169" "" "" "" "1" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "26235985-Ind38" "00219170" "" "" "" "6" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "3-generation family, 6 affected (6M), unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "26235985-Fam1" "00219171" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}, {PMID:Snijders-Blok 2015:26235985}" "3-generation family, 2 affected (2M), unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "26235985-Fam2" "00219172" "" "" "" "2" "" "00006" "{PMID:Snijders-Blok 2015:26235985}" "3-generation family, 2 affected, unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "26235985-Fam3" "00269898" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00276031" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00301079" "" "" "" "1" "" "03670" "{PMID:Okano 2020:32896648}" "" "F" "no" "Japan" "" "0" "" "" "" "patient" "00302675" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00302945" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00302946" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00303953" "" "" "" "1" "" "03671" "{PMID:Nicola 2019:30734472}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "United Kingdom (Great Britain)" ">09y" "0" "" "" "White" "Patient 1" "00303954" "" "" "" "1" "" "03671" "{PMID:Nicola 2019:30734472}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "" ">08y" "0" "" "" "White" "Patient 2" "00303955" "" "" "" "1" "" "03671" "{PMID:Nicola 2019:30734472}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "yes" "United Kingdom (Great Britain)" ">16y" "0" "" "" "White" "Patient 3" "00303976" "" "" "" "2" "" "03671" "{PMID:Kellaris 2018:29490693}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "no" "United States" ">29y" "0" "" "" "" "FamK1" "00303977" "" "" "00303976" "1" "" "03671" "{PMID:Kellaris 2018:29490693}" "brother of K1" "M" "no" "United States" ">25y" "0" "" "" "" "FamK2" "00306252" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00309891" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00320151" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00320216" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "152769" "00334300" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334543" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00375518" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "179786" "00387704" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M030" "00387860" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900228" "00403873" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF071" "00415185" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "202582" "00419461" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8109" "00420948" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "206827" "00421574" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "208015" "00433427" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "252700" "00438646" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0213" "00440465" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2489.1" "00440466" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2601.1" "00440467" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3010.1" "00448195" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat1" "00451681" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453124" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "M" "" "" "" "0" "" "" "" "Pat80" "00457323" "" "" "" "1" "" "04771" "" "" "" "" "" "" "" "" "" "" "" "00457324" "" "" "" "1" "" "04771" "" "" "" "" "" "" "" "" "" "" "" "00457325" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00457326" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00457327" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00457328" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00457329" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00457330" "" "" "" "1" "" "04771" "" "" "M" "" "" "" "" "" "" "" "" "00460180" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "140213" "00460987" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00464316" "" "" "" "1" "" "04409" "" "" "F" "no" "China" "" "" "" "" "Chinese" "R022" "00464558" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00465247" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466407" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 98 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00050372" "00198" "00050383" "00198" "00050567" "00198" "00050602" "00198" "00103878" "00198" "00103879" "00198" "00103903" "00198" "00151420" "00198" "00164709" "00198" "00172396" "00187" "00219099" "00139" "00219101" "00139" "00219102" "00139" "00219136" "00139" "00219137" "00139" "00219138" "00139" "00219139" "00139" "00219140" "00139" "00219141" "00139" "00219142" "00139" "00219143" "00139" "00219144" "00139" "00219145" "00139" "00219146" "00139" "00219147" "00139" "00219148" "00139" "00219149" "00139" "00219150" "00139" "00219151" "00139" "00219152" "00139" "00219153" "00139" "00219154" "00139" "00219155" "00139" "00219156" "00139" "00219157" "00139" "00219158" "00139" "00219159" "00139" "00219160" "00139" "00219161" "00139" "00219162" "00139" "00219163" "00139" "00219164" "00139" "00219165" "00139" "00219166" "00139" "00219167" "00139" "00219168" "00139" "00219169" "00139" "00219170" "00139" "00219171" "00139" "00219172" "00139" "00269898" "00198" "00276031" "00198" "00301079" "04440" "00302675" "00198" "00302945" "00139" "00302946" "00139" "00303953" "00139" "00303954" "00139" "00303955" "00139" "00303976" "00139" "00303977" "00139" "00306252" "00198" "00309891" "00198" "00320151" "00198" "00320216" "04440" "00334300" "05793" "00334543" "05793" "00375518" "00819" "00387704" "00139" "00387860" "00139" "00403873" "05611" "00415185" "04440" "00419461" "00198" "00420948" "04440" "00421574" "04440" "00433427" "04440" "00438646" "06906" "00440465" "00198" "00440466" "00198" "00440467" "00198" "00448195" "00198" "00451681" "00138" "00453124" "05611" "00457323" "00139" "00457324" "00139" "00457325" "00139" "00457326" "00139" "00457327" "00139" "00457328" "00139" "00457329" "00139" "00457330" "00139" "00460180" "04440" "00460987" "00198" "00464316" "00139" "00464558" "05611" "00465247" "05611" "00466407" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00187, 00198, 00819, 01157, 04440, 05611, 05793, 06906 ## Count = 89 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000036984" "00198" "00050372" "00006" "Isolated (sporadic)" "" "intellectual disability severe, hyperactivity, ligamentous laxity, recurrent infections, poor motor coordination, sleep-wake cycle disturbance" "" "" "" "" "" "" "" "" "" "" "" "" "0000036995" "00198" "00050383" "00006" "Isolated (sporadic)" "" "ovarian cysts, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000037179" "00198" "00050567" "00006" "Isolated (sporadic)" "" "moderately short stature, microcephaly, specific learning disability" "" "" "" "" "" "" "" "" "" "" "" "" "0000037214" "00198" "00050602" "00006" "Isolated (sporadic)" "" "palmoplantar hyperkeratosis, global developmental delay, oral cleft, bilateral cleft lip and palate, ectopic anus, vesicoureteral reflux, conductive hearing impairment, sensorineural hearing impairment, joint hypermobility, nevus, linear nevus sebaceous, depigmentation/hyperpigmentation of skin" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000081805" "00198" "00103878" "00006" "Isolated (sporadic)" "" "developmental delay, intellectual disability, microcephaly, cortical visual impairment, delayed myelination, short stature, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "0000081806" "00198" "00103879" "00006" "Isolated (sporadic)" "" "developmental delay, intellectual disability, microcephaly, hypotonia, epidermolysis bullosa" "" "" "" "" "" "" "" "" "" "" "" "" "0000081830" "00198" "00103903" "00006" "Familial, X-linked recessive" "" "developmental delay, intellectual disability, seizures, hypotonia, dysmorphic features, brain malformation" "" "" "" "" "" "" "" "" "" "" "" "" "0000123812" "00198" "00151420" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Gait ataxia (HP:0002066)" "" "" "" "" "" "" "" "" "" "" "" "" "0000129748" "00198" "00164709" "01807" "Unknown" "" "Triangular face (HP:0000325); Global developmental delay (HP:0001263); Central hypotonia (HP:0011398); Stereotypy (HP:0000733)" "" "" "" "" "" "" "" "" "" "" "" "" "0000137260" "00187" "00172396" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000167682" "00139" "00219136" "00006" "Unknown" "4y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167683" "00139" "00219137" "00006" "Unknown" "8y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167684" "00139" "00219138" "00006" "Unknown" "3y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167685" "00139" "00219139" "00006" "Unknown" "13y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167686" "00139" "00219140" "00006" "Unknown" "8y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167687" "00139" "00219141" "00006" "Unknown" "9y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167688" "00139" "00219142" "00006" "Unknown" "3y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), cortical malformation (HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167689" "00139" "00219143" "00006" "Unknown" "2y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167690" "00139" "00219144" "00006" "Unknown" "18y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167691" "00139" "00219145" "00006" "Unknown" "33y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167692" "00139" "00219146" "00006" "Unknown" "14y" "decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167693" "00139" "00219147" "00006" "Unknown" "13y" "no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167694" "00139" "00219148" "00006" "Unknown" "9y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167695" "00139" "00219149" "00006" "Unknown" "18y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167696" "00139" "00219150" "00006" "Unknown" "17y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167697" "00139" "00219151" "00006" "Unknown" "1y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167698" "00139" "00219152" "00006" "Unknown" "2y" "decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167699" "00139" "00219153" "00006" "Unknown" "4y" "no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), cortical malformation (HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167700" "00139" "00219154" "00006" "Unknown" "5y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167701" "00139" "00219155" "00006" "Unknown" "10y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167702" "00139" "00219156" "00006" "Unknown" "1y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); developmental delay (HP:0001263); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167703" "00139" "00219157" "00006" "Unknown" "7y" "decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167704" "00139" "00219158" "00006" "Unknown" "2y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); hearing loss (HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167705" "00139" "00219159" "00006" "Unknown" "18y" "decreased body weight (HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); cleft lip or palate (HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167706" "00139" "00219160" "00006" "Unknown" "3y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167707" "00139" "00219161" "00006" "Unknown" "9y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; no hypotonia (-HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167708" "00139" "00219162" "00006" "Unknown" "15y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); skin abnormality (HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167709" "00139" "00219163" "00006" "Unknown" "10y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); precocious puberty (HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167710" "00139" "00219164" "00006" "Unknown" "12y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167711" "00139" "00219165" "00006" "Unknown" "7y" "no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); mild intellectual disability (HP:0001256); hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167712" "00139" "00219166" "00006" "Unknown" "3y" "no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); intellectual disability (HP:0001249), moderate/severe; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); abnormal behaviour (HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167713" "00139" "00219167" "00006" "Unknown" "6y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); moderate intellectual disability (HP:0002342) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167714" "00139" "00219168" "00006" "Unknown" "11y" "decreased body weight (HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); epilepsy (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI hypoplasia corpus callosum (HP:0007370), no cortical malformation (-HP:0002539), ventricular enlargement (HP:0002119); no skin abnormality (-HP:0000951); no hyperlaxity (-HP:0001388); visual problems (HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); scoliosis (HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167715" "00139" "00219169" "00006" "Unknown" "7y" "no decreased body weight (-HP:0004325); macrocephaly (HP:0000256); severe intellectual disability (HP:0010864) ; hypotonia (HP:0001290); no epilepsy (-HP:0001250); no movement disorder (-HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); no skin abnormality (-HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167716" "00139" "00219170" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167717" "00139" "00219171" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167718" "00139" "00219172" "00006" "Familial, X-linked recessive" "" "severe ID, dysplastic pulmonary valve, hypertonia, strabismus, thickened nuchal fold, absent nasal bone; mother had recurrent miscarriages of unknown gender; viable pregnancy terminated for ultrasound anomalies (thickened nuchal fold, absent nasal bone); severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "MRX-102" "intellectual disability" "" "0000167729" "00139" "00219101" "03197" "Isolated (sporadic)" "" "Intrauterine growth retardation, Thin vermilion border, Retrognathia, Broad philtrum, Smooth; philtrum, Short neck, Absent cupid's bow, Posterior plagiocephaly, Midface retrusion, Flat face,; Strabismus, Esotropia, Horizontal nystagmus, Low-set ears, Curly hair, Highly arched eyebrow,; Scoliosis, Spastic tetraparesis, Global developmental delay, Absent speech, Abnormality of the; corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Abnormality of the basal; ganglia, Abnormality of the cerebral white matter, Astrocytoma, Hypoplasia of the pons,; Hypoplastic anterior commissure.; global developmental delay (HP:0001263); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "MRX-102" "" "" "0000167730" "00139" "00219102" "03197" "Isolated (sporadic)" "" "Intrauterine growth retardation, Increased nuchal translucency, Oligohydramnios,; Ventriculomegaly, Trigonocephaly, Hypotelorism, Nevus flammeus, Highly arched eyebrows,; Synophrys, Epicanthus, Strabismus, Low-set ears, Posteriorly rotated ears, Malar flattening,; Microretrognathia, Intellectual disability, Developmental delay, Bilateral sensorineural hearing; impairment, Muscular hypotonia, Feeding difficulties, Optic atrophy, Esotropia, EEG abnormality,; Microcephaly, Dysphagia, Dystonia, Absent speech, Abnormal cortical gyration, Abnormality of; the basal ganglia, Hypoplasia of the corpus callosum, Dysgenesis of the hippocampus, Abnormality; of the white matter, Hypoplastic anterior commissure, Hypoplasia of the pons, Cerebellar vermis; hypoplasia.; intellectual disability (HP:0001249); neurodevelopmental delay (HP:0012758); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "MRX-102" "" "" "0000167731" "00139" "00219099" "03197" "Isolated (sporadic)" "" "Short stature, intellectual disability, Strabismus, Cafe-au-lait spot, Atrial septal defect,Hypertonia; intellectual disability (HP:0001249); global developmental delay (HP:0001263); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "MRX-102" "" "" "0000207694" "00198" "00269898" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Obesity (HP:0001513); Aggressive behavior (HP:0000718); Progressive hearing impairment (HP:0001730); Punctate periventricular T2 hyperintense foci (HP:0030081)" "" "" "" "" "" "" "" "" "" "" "" "" "0000210587" "00198" "00276031" "01807" "Unknown" "" "Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228384" "04440" "00301079" "03670" "Isolated (sporadic)" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "" "MRXSSB" "intellectual disability" "" "0000229756" "00198" "00302675" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230029" "00139" "00302945" "00006" "Isolated (sporadic)" "" "see paper; ..., severe intellectual disability, ataxic gait, cleft uvula, facial dysmorphism, vesicoureteric reflux" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230030" "00139" "00302946" "00006" "Isolated (sporadic)" "" "see paper; ..., mild/moderate intellectual disability, pre- and postnatal growth restriction, hirsutism, hypertelorism, facial features, hallux valgus with foot arches" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000231013" "00139" "00303953" "03671" "Familial, X-linked recessive" "07y" "Autistic behavior (HP:0000729); Aortopulmonary window (HP:0011604); Secundum atrial septal defect (HP:0001684); Plagiocephaly (HP:0001357); Lambdoidal craniosynostosis (HP:0004443); Low columella (HP:0010763); Depressed nasal tip (HP:0000437); Seizure (HP:0001250); Otitis media (HP:0000388); Hypotonia (HP:0001252); Epidermoid cyst (HP:0200040);" "" "" "07y" "" "DDX3X" "" "" "" "" "" "" "" "0000231014" "00139" "00303954" "03671" "Familial, X-linked recessive" "08y" "Pulmonary valve atresia (HP:0010882); Right bundle branch block (HP:0011712); Ventricular septal defect (HP:0001629); Patent foramen ovale (HP:0001655);Long eyebrows (HP:0004523); Thin vermilion border (HP:0000233); Cataract HP:0000518; Retinal detachment (HP:0000541); Hypermetropia (HP:0000540); Conductive hearing impairment (HP:0000405);" "" "" "" "" "DDX3X" "" "" "" "" "" "" "" "0000231015" "00139" "00303955" "03671" "Familial, X-linked recessive" "16y" "Pulmonary artery stenosis (HP:0004415); Brachycephaly (HP:0000248); Broad face (HP:0000283); Thin upper lip vermilion (HP:0000219); Delayed puberty (HP:0000823); Obesity (HP:0001513); Muscular (hypotonia HP:0001252)" "" "" "" "" "DDX3X" "" "" "" "" "" "" "" "0000231034" "00139" "00303976" "03671" "Familial, X-linked recessive" "" "Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly); Hand weakness (HP:0030237); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119)" "02y" "" "" "" "DDX3X" "" "" "" "" "" "" "" "0000231035" "00139" "00303977" "03671" "Familial, X-linked recessive" "" "Tremor (HP:0002322);Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Abnormal corpus callosum (HP:0001273); Ventriculomegaly (HP:0002119); Macrocephaly (HP:0000256); Dysarthria (HP:0001260); Progressive spastic paraparesis (HP:0007199); Brain MRI with abnormal periventricular T2 intensity (HP:0002518); Ventriculomegaly (HP:0002119)" "02y" "" "" "" "DDX3X" "" "" "" "" "" "" "" "0000232098" "00198" "00306252" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Poor coordination (HP:0002370)" "" "" "" "" "" "" "" "" "" "" "" "" "0000235208" "00198" "00309891" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Absent speech (HP:0001344); Gait ataxia (HP:0002066); Poor fine motor coordination (HP:0007010); Corpus callosum atrophy (HP:0007371); Brain atrophy (HP:0012444); Maintenance insomnia (HP:0031355); Diminished ability to concentrate (HP:0031987)" "" "" "" "" "" "" "" "" "" "" "" "" "0000242197" "00198" "00320151" "01807" "Unknown" "" "Stereotypy (HP:0000733); Global developmental delay (HP:0001263); Absent speech (HP:0001344); Sleep terror (HP:0030765)" "" "" "" "" "" "" "" "" "" "" "" "" "0000242262" "04440" "00320216" "01164" "Unknown" "" "(+) Narrow face,(+) Global developmental delay,(+) Abnormal facial shape,(+) Poor coordination,(+) Mild microcephaly; one-year-old female child, possibly Angelman syndrome, linguistically accentuated developmental delay, broad-based gait pattern, facial dysmorphia (long philtrum, anteverted nostrils, long narrow face), relative microcephaly" "" "" "" "" "" "" "" "" "" "" "1y" "" "0000253110" "05793" "00334300" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253233" "05793" "00334543" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000270732" "00819" "00375518" "01164" "Familial, X-linked dominant" "00y06m" "(+) Microcephaly,(+) Seizure,(+) Polymicrogyria,(+) Abnormal cortical gyration,(+) Aplasia/Hypoplasia of the cerebrum,(+) Abnormal nervous system physiology,(+) Decreased head circumference" "" "" "" "" "" "" "" "" "" "" "" "" "0000281272" "00139" "00387704" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281428" "00139" "00387860" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000296553" "05611" "00403873" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000306983" "04440" "00415185" "01164" "Unknown" "22y" "Intellectual disability, Delayed speech and language development, Autistic behavior, cMRI: cortical brain substance reduction, emphasised CSF spaces, arachnoid cyst temporobasal bilaterally" "" "" "" "" "" "" "" "" "" "" "" "" "0000310742" "00198" "00419461" "02300" "Isolated (sporadic)" "28y" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000312188" "04440" "00420948" "01164" "Isolated (sporadic)" "01y" "Global developmental delay, Axial hypotonia, Microcephaly, Dyskinesia" "" "" "" "" "" "" "" "" "" "" "" "" "0000312780" "04440" "00421574" "01164" "Isolated (sporadic)" "09y" "Absent speech, Microcephaly, Autistic behavior, Apraxia, Hypotonia, Broad-based gait, Motor stereotypy, Intellectual disability, mild, Cerebral atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "0000323902" "04440" "00433427" "01164" "Isolated (sporadic)" "03y" "Intellectual disability, mild, Delayed speech and language development, Global developmental delay, Sacral segmentation defect, Abnormal neural tube morphology, Syringomyelia, Abnormal conus terminalis morphology, Hypotonia, Smooth philtrum, Thin vermilion border" "" "" "" "" "" "" "" "" "" "" "" "" "0000328549" "06906" "00438646" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330375" "00198" "00440465" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "X-linked mental retardation-10 (MIM #300958)" "" "" "0000330376" "00198" "00440466" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "X-linked mental retardation-10 (MIM #300958)" "" "" "0000330377" "00198" "00440467" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "X-linked mental retardation-10 (MIM #300958)" "" "" "0000337405" "00198" "00448195" "00006" "Isolated (sporadic)" "8y" "intellectual disability; brain structural alterations; sensorineural hearing impairment; optic atrophy; constipation; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000340341" "00138" "00451681" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0001256, HP:0001252, HP:0001265" "" "" "" "" "" "" "" "" "" "MRXSSB" "autism" "" "0000341769" "05611" "00453124" "00006" "Isolated (sporadic)" "5y10m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000347905" "04440" "00460180" "01164" "Isolated (sporadic)" "12y" "Neurodevelopmental delay, Intellectual disability, Precocious puberty, Abnormal foot morphology" "" "" "" "" "" "" "" "" "" "" "" "" "0000350379" "00139" "00464316" "04409" "Isolated (sporadic)" "08y07m" "Mental retardation, speech developmental delay, triangular face, low ear position, feeding difficulties in early childhood." "" "" "" "" "luoxiaomei" "" "" "" "" "mental retardation" "mental retardation" "" "0000350546" "05611" "00464558" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0000750, HP:0001249" "" "" "" "" "" "" "" "" "" "MRXSSB" "complex neurodevelopmental disorder" "" "0000350782" "05611" "00465247" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0001519, HP:0000369, HP:0000218, HP:0002839" "" "" "" "" "" "" "" "" "" "MRXSSB" "complex neurodevelopmental disorder" "" "0000351771" "00139" "00466407" "03544" "Isolated (sporadic)" "" "HP:0010864" "" "" "" "" "" "" "" "" "" "MRXSSB" "severe ID" "" ## Screenings ## Do not remove or alter this header ## ## Count = 98 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050317" "00050372" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050328" "00050383" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050512" "00050567" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050547" "00050602" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104336" "00103878" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104337" "00103879" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104361" "00103903" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000152275" "00151420" "0" "01807" "01807" "2018-01-18 12:16:50" "" "" "SEQ" "DNA" "" "" "0000165576" "00164709" "1" "01807" "01807" "2018-06-05 19:08:54" "" "" "SEQ" "DNA" "" "" "0000173279" "00172396" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000220171" "00219099" "1" "03197" "03197" "2019-02-06 10:50:43" "" "" "SEQ-NG-I" "DNA" "" "WES (Whole exome sequencing)" "0000220172" "00219101" "1" "03197" "03197" "2019-02-06 11:20:27" "" "" "SEQ-NG-I" "DNA" "" "WES (whole exome sequencing)" "0000220173" "00219102" "1" "03197" "03197" "2019-02-06 11:32:23" "" "" "SEQ-NG-I" "DNA" "" "WES (whole exome sequencing)" "0000220207" "00219136" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220208" "00219137" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220209" "00219138" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220210" "00219139" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220211" "00219140" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220212" "00219141" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220213" "00219142" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220214" "00219143" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220215" "00219144" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220216" "00219145" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220217" "00219146" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220218" "00219147" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220219" "00219148" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220220" "00219149" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220221" "00219150" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220222" "00219151" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220223" "00219152" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220224" "00219153" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220225" "00219154" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220226" "00219155" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220227" "00219156" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220228" "00219157" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220229" "00219158" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220230" "00219159" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220231" "00219160" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220232" "00219161" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220233" "00219162" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220234" "00219163" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220235" "00219164" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220236" "00219165" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220237" "00219166" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220238" "00219167" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220239" "00219168" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220240" "00219169" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220241" "00219170" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220242" "00219171" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000220243" "00219172" "1" "00006" "00006" "2019-02-06 21:03:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000271051" "00269898" "1" "01807" "01807" "2019-12-10 12:32:07" "" "" "SEQ" "DNA" "" "" "0000277178" "00276031" "1" "01807" "01807" "2020-01-24 11:02:24" "" "" "SEQ" "DNA" "" "" "0000302201" "00301079" "1" "03670" "03670" "2020-05-07 03:37:56" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000303800" "00302675" "1" "01807" "01807" "2020-05-27 17:23:02" "" "" "SEQ" "DNA" "" "" "0000304070" "00302945" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304071" "00302946" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000305080" "00303953" "1" "03671" "03671" "2020-06-20 14:25:43" "" "" "SEQ" "DNA" "" "" "0000305081" "00303954" "1" "03671" "03671" "2020-06-20 18:20:08" "" "" "SEQ" "DNA" "" "" "0000305084" "00303955" "1" "03671" "03671" "2020-06-20 19:18:10" "" "" "SEQ" "DNA" "" "" "0000305104" "00303976" "1" "03671" "03671" "2020-06-22 16:26:04" "" "" "SEQ" "DNA" "" "" "0000305105" "00303977" "1" "03671" "03671" "2020-06-22 16:35:33" "" "" "SEQ" "DNA" "" "" "0000307388" "00306252" "1" "01807" "01807" "2020-07-13 13:22:01" "" "" "SEQ" "DNA" "" "" "0000311035" "00309891" "1" "01807" "01807" "2020-09-04 17:29:01" "" "" "SEQ" "DNA" "" "" "0000321336" "00320151" "1" "01807" "01807" "2020-11-23 17:38:10" "" "" "SEQ" "DNA" "" "" "0000321401" "00320216" "1" "01164" "01164" "2020-11-24 13:29:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000335527" "00334300" "1" "04011" "04011" "2021-02-27 06:20:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335772" "00334543" "1" "04011" "04011" "2021-03-01 13:55:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000376715" "00375518" "1" "01164" "01164" "2021-06-07 17:01:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000388935" "00387704" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389091" "00387860" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000405111" "00403873" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000416467" "00415185" "1" "01164" "01164" "2022-08-09 16:04:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000420765" "00419461" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000422259" "00420948" "1" "01164" "01164" "2022-11-03 14:09:36" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000422885" "00421574" "1" "01164" "01164" "2022-11-07 16:32:06" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000434881" "00433427" "1" "01164" "01164" "2023-03-08 14:59:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000440128" "00438646" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441950" "00440465" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441951" "00440466" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441952" "00440467" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449770" "00448195" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453285" "00451681" "1" "03544" "03544" "2024-06-28 12:21:08" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000454735" "00453124" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000458944" "00457323" "1" "04771" "04771" "2024-11-07 14:10:05" "" "" "SEQ-NG" "DNA" "" "" "0000458945" "00457324" "1" "04771" "04771" "2024-11-07 14:20:12" "" "" "SEQ-NG" "DNA" "" "" "0000458946" "00457325" "1" "04771" "04771" "2024-11-07 14:23:33" "" "" "SEQ-NG" "DNA" "" "" "0000458947" "00457326" "1" "04771" "04771" "2024-11-07 14:26:33" "" "" "SEQ-NG" "DNA" "" "" "0000458948" "00457327" "1" "04771" "04771" "2024-11-07 14:30:29" "" "" "SEQ-NG" "DNA" "" "" "0000458949" "00457328" "1" "04771" "04771" "2024-11-07 14:35:47" "" "" "SEQ-NG" "DNA" "" "" "0000458950" "00457329" "1" "04771" "04771" "2024-11-07 14:39:42" "" "" "SEQ-NG" "DNA" "" "" "0000458951" "00457330" "1" "04771" "04771" "2024-11-07 14:42:56" "" "" "SEQ-NG" "DNA" "" "" "0000461810" "00460180" "1" "01164" "01164" "2025-01-20 12:20:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000462619" "00460987" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000465947" "00464316" "1" "04409" "04409" "2025-03-03 05:04:16" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" "0000466198" "00464558" "1" "03544" "03544" "2025-03-27 13:12:47" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466897" "00465247" "1" "03544" "03544" "2025-04-27 15:52:25" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000468070" "00466407" "1" "03544" "03544" "2025-08-27 13:55:05" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{geneid}}" "0000050317" "DDX3X" "0000050328" "DDX3X" "0000050512" "DDX3X" "0000050547" "DDX3X" "0000104336" "DDX3X" "0000104337" "DDX3X" "0000104361" "DDX3X" "0000173279" "DDX3X" "0000220207" "DDX3X" "0000220208" "DDX3X" "0000220209" "DDX3X" "0000220210" "DDX3X" "0000220211" "DDX3X" "0000220212" "DDX3X" "0000220213" "DDX3X" "0000220214" "DDX3X" "0000220215" "DDX3X" "0000220216" "DDX3X" "0000220217" "DDX3X" "0000220218" "DDX3X" "0000220219" "DDX3X" "0000220220" "DDX3X" "0000220221" "DDX3X" "0000220222" "DDX3X" "0000220223" "DDX3X" "0000220224" "DDX3X" "0000220225" "DDX3X" "0000220226" "DDX3X" "0000220227" "DDX3X" "0000220228" "DDX3X" "0000220229" "DDX3X" "0000220230" "DDX3X" "0000220231" "DDX3X" "0000220232" "DDX3X" "0000220233" "DDX3X" "0000220234" "DDX3X" "0000220235" "DDX3X" "0000220236" "DDX3X" "0000220237" "DDX3X" "0000220238" "DDX3X" "0000220239" "DDX3X" "0000220240" "DDX3X" "0000220241" "DDX3X" "0000220242" "DDX3X" "0000220243" "DDX3X" "0000302201" "DDX3X" "0000304070" "DDX3X" "0000304071" "DDX3X" "0000305080" "DDX3X" "0000305081" "DDX3X" "0000305084" "DDX3X" "0000305104" "DDX3X" "0000305105" "DDX3X" "0000321401" "DDX3X" "0000376715" "DDX3X" "0000388935" "DDX3X" "0000389091" "DDX3X" "0000416467" "DDX3X" "0000422259" "DDX3X" "0000422885" "DDX3X" "0000434881" "DDX3X" "0000461810" "DDX3X" "0000462619" "DDX3X" "0000465947" "DDX3X" ## 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 = 196 "{{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}}" "0000010896" "0" "50" "X" "41196911" "41196911" "dup" "0" "00037" "DDX3X_000001" "g.41196911dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.41337658dup" "" "VUS" "" "0000079297" "0" "90" "X" "41204533" "41204533" "subst" "0" "00006" "DDX3X_000002" "g.41204533C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41345280C>T" "" "pathogenic" "" "0000079308" "0" "90" "X" "41202566" "41202566" "subst" "0" "00006" "DDX3X_000005" "g.41202566T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41343313T>C" "" "pathogenic" "" "0000079492" "0" "90" "X" "41198321" "41198321" "subst" "0" "00006" "DDX3X_000004" "g.41198321C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41339068C>T" "" "pathogenic" "" "0000079527" "0" "90" "X" "41205861" "41205861" "subst" "0" "00006" "DDX3X_000003" "g.41205861G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41346608G>A" "" "pathogenic" "" "0000169016" "1" "90" "X" "41206199" "41206199" "subst" "0" "00006" "DDX3X_000007" "g.41206199C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.41346946C>T" "" "pathogenic" "" "0000169017" "1" "90" "X" "41200777" "41200777" "dup" "0" "00006" "DDX3X_000008" "g.41200777dup" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.41341524dup" "" "pathogenic" "" "0000169041" "1" "90" "X" "41201825" "41201825" "subst" "5.59319E-6" "00006" "DDX3X_000006" "g.41201825G>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "Germline" "" "" "0" "" "" "g.41342572G>T" "" "pathogenic" "" "0000267309" "0" "90" "X" "41204444" "41204444" "subst" "0" "02325" "DDX3X_000018" "g.41204444T>G" "" "" "" "DDX3X(NM_001356.5):c.1037T>G (p.L346*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41345191T>G" "" "pathogenic" "" "0000267310" "0" "90" "X" "41204561" "41204566" "del" "0" "02325" "DDX3X_000019" "g.41204561_41204566del" "" "" "" "DDX3X(NM_001356.5):c.1154_1159delTTCCTA (p.F385*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41345308_41345313del" "" "pathogenic" "" "0000267311" "0" "50" "X" "41201825" "41201825" "subst" "0" "02325" "DDX3X_000012" "g.41201825G>A" "" "" "" "DDX3X(NM_001356.5):c.362G>A (p.R121H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41342572G>A" "" "VUS" "" "0000268662" "0" "90" "X" "41204578" "41204578" "subst" "0" "02329" "DDX3X_000020" "g.41204578G>A" "" "" "" "DDX3X(NM_001356.5):c.1170+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41345325G>A" "" "pathogenic" "" "0000268663" "0" "90" "X" "41203041" "41203041" "subst" "0" "02329" "DDX3X_000014" "g.41203041C>G" "" "" "" "DDX3X(NM_001356.5):c.731C>G (p.S244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41343788C>G" "" "pathogenic" "" "0000268664" "0" "90" "X" "41203347" "41203348" "del" "0" "02329" "DDX3X_000015" "g.41203347_41203348del" "" "" "" "DDX3X(NM_001356.5):c.830_831delAG (p.E277Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41344094_41344095del" "" "pathogenic" "" "0000270689" "0" "90" "X" "41203041" "41203041" "subst" "0" "02326" "DDX3X_000014" "g.41203041C>G" "" "" "" "DDX3X(NM_001356.5):c.731C>G (p.S244*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41343788C>G" "" "pathogenic" "" "0000274925" "0" "70" "X" "41204427" "41204427" "subst" "0" "01943" "DDX3X_000016" "g.41204427T>G" "" "" "" "DDX3X(NM_001356.4):c.1026-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41345174T>G" "" "likely pathogenic" "" "0000333807" "0" "50" "X" "41200732" "41200732" "subst" "0.000398252" "01804" "DDX3X_000010" "g.41200732C>G" "" "" "" "DDX3X(NM_001193416.1):c.152-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41341479C>G" "" "VUS" "" "0000333810" "0" "50" "X" "41206174" "41206176" "del" "0" "01804" "DDX3X_000023" "g.41206174_41206176del" "" "" "" "DDX3X(NM_001356.3):c.1674_1676del (p.(Leu560del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346921_41346923del" "" "VUS" "" "0000333811" "0" "50" "X" "41206236" "41206236" "subst" "0" "01804" "DDX3X_000024" "g.41206236C>G" "" "" "" "DDX3X(NM_001356.3):c.1740C>G (p.(Tyr580Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346983C>G" "" "VUS" "" "0000336337" "0" "90" "X" "41201905" "41201905" "subst" "0" "01807" "DDX3X_000013" "g.41201905C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41342652C>T" "" "pathogenic" "" "0000338005" "0" "70" "X" "41201989" "41201989" "subst" "0" "02327" "DDX3X_000029" "g.41201989G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41342736G>C" "" "likely pathogenic" "" "0000342968" "0" "70" "X" "41205606" "41205606" "subst" "0" "02327" "DDX3X_000036" "g.41205606A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346353A>T" "" "likely pathogenic" "" "0000343903" "0" "90" "X" "41201849" "41201849" "dup" "0" "02327" "DDX3X_000028" "g.41201849dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41342596dup" "" "pathogenic" "" "0000344900" "0" "90" "X" "41206189" "41206189" "subst" "0" "02327" "DDX3X_000039" "g.41206189C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346936C>T" "" "pathogenic" "" "0000347234" "0" "90" "X" "41206208" "41206208" "subst" "0" "02327" "DDX3X_000040" "g.41206208T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346955T>G" "" "pathogenic" "" "0000348507" "0" "70" "X" "41206199" "41206199" "subst" "0" "02327" "DDX3X_000007" "g.41206199C>T" "" "" "" "DDX3X(NM_001356.5):c.1703C>T (p.(Pro568Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346946C>T" "" "likely pathogenic" "" "0000349555" "0" "50" "X" "41205855" "41205855" "subst" "0" "02327" "DDX3X_000038" "g.41205855C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41346602C>T" "" "VUS" "" "0000350028" "0" "70" "X" "41203500" "41203500" "subst" "0" "02327" "DDX3X_000032" "g.41203500C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41344247C>A" "" "likely pathogenic" "" "0000350499" "0" "70" "X" "41204440" "41204440" "subst" "0" "02327" "DDX3X_000033" "g.41204440G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41345187G>T" "" "likely pathogenic" "" "0000369301" "0" "90" "X" "41203501" "41203501" "subst" "0" "01807" "DDX3X_000041" "g.41203501C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41344248C>T" "" "pathogenic" "" "0000393136" "1" "50" "X" "41206922" "41206922" "subst" "0" "00124" "DDX3X_000042" "g.41206922G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.41347669G>A" "" "VUS" "" "0000455089" "0" "90" "X" "41202566" "41202568" "del" "0" "03197" "DDX3X_000043" "g.41202566_41202568del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41343313_41343315del" "" "pathogenic (dominant)" "" "0000455090" "0" "90" "X" "41205771" "41205771" "subst" "0" "03197" "DDX3X_000044" "g.41205771G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41346518G>A" "" "pathogenic (dominant)" "" "0000455091" "0" "90" "X" "41205602" "41205605" "del" "0" "03197" "DDX3X_000045" "g.41205602_41205605delinsTCTC" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.41346349_41346352delinsTCTC" "" "pathogenic (dominant)" "" "0000455159" "0" "90" "X" "41204533" "41204533" "subst" "0" "00006" "DDX3X_000002" "g.41204533C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345280C>T" "" "pathogenic (dominant)" "" "0000455160" "0" "90" "X" "41200818" "41200818" "subst" "0" "00006" "DDX3X_000051" "g.41200818C>G" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41341565C>G" "" "pathogenic (dominant)" "" "0000455161" "0" "90" "X" "41205780" "41205780" "subst" "0" "00006" "DDX3X_000068" "g.41205780T>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346527T>C" "" "pathogenic (dominant)" "" "0000455162" "0" "90" "X" "41203604" "41203604" "subst" "0" "00006" "DDX3X_000058" "g.41203604G>A" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41344351G>A" "" "pathogenic (dominant)" "" "0000455163" "0" "90" "X" "41203495" "41203495" "del" "0" "00006" "DDX3X_000047" "g.41203495del" "" "{PMID:Rauch 2012:23020937}" "" "" "" "De novo" "" "" "0" "" "" "g.41344242del" "" "pathogenic (dominant)" "" "0000455164" "0" "90" "X" "41204715" "41204716" "dup" "0" "00006" "DDX3X_000062" "g.41204715_41204716dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345462_41345463dup" "" "pathogenic (dominant)" "" "0000455165" "0" "90" "X" "41204512" "41204512" "dup" "0" "00006" "DDX3X_000060" "g.41204512dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345259dup" "" "pathogenic (dominant)" "" "0000455166" "0" "90" "X" "41203490" "41203490" "subst" "0" "00006" "DDX3X_000056" "g.41203490A>G" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41344237A>G" "" "pathogenic (dominant)" "" "0000455167" "0" "90" "X" "41205860" "41205860" "dup" "0" "00006" "DDX3X_000072" "g.41205860dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346607dup" "" "pathogenic (dominant)" "" "0000455168" "0" "90" "X" "41200854" "41200854" "dup" "0" "00006" "DDX3X_000027" "g.41200854dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41341601dup" "" "pathogenic (dominant)" "" "0000455169" "0" "90" "X" "41205606" "41205606" "subst" "0" "00006" "DDX3X_000036" "g.41205606A>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346353A>T" "" "pathogenic (dominant)" "" "0000455170" "0" "90" "X" "41203500" "41203500" "subst" "0" "00006" "DDX3X_000032" "g.41203500C>A" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41344247C>A" "" "pathogenic (dominant)" "" "0000455171" "0" "90" "X" "41206189" "41206189" "subst" "0" "00006" "DDX3X_000039" "g.41206189C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346936C>T" "" "pathogenic (dominant)" "" "0000455172" "0" "90" "X" "41205795" "41205796" "del" "0" "00006" "DDX3X_000070" "g.41205795_41205796del" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346542_41346543del" "" "pathogenic (dominant)" "" "0000455173" "0" "90" "X" "41203282" "41203282" "subst" "0" "00006" "DDX3X_000055" "g.41203282G>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41344029G>C" "" "pathogenic (dominant)" "" "0000455174" "0" "90" "X" "41202524" "41202524" "dup" "0" "00006" "DDX3X_000052" "g.41202524dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41343271dup" "" "pathogenic (dominant)" "" "0000455175" "0" "90" "X" "41205487" "41205487" "del" "0" "00006" "DDX3X_000064" "g.41205487del" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346234del" "" "pathogenic (dominant)" "" "0000455176" "0" "90" "X" "41205549" "41205549" "dup" "0" "00006" "DDX3X_000065" "g.41205549dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346296dup" "" "pathogenic (dominant)" "" "0000455177" "0" "90" "X" "41205550" "41205551" "dup" "0" "00006" "DDX3X_000066" "g.41205550_41205551dup" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346297_41346298dup" "" "pathogenic (dominant)" "" "0000455178" "0" "90" "X" "41205795" "41205796" "del" "0" "00006" "DDX3X_000070" "g.41205795_41205796del" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346542_41346543del" "" "pathogenic (dominant)" "" "0000455179" "0" "90" "X" "41205801" "41205801" "subst" "0" "00006" "DDX3X_000071" "g.41205801T>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346548T>C" "" "pathogenic (dominant)" "" "0000455180" "0" "90" "X" "41203014" "41203014" "subst" "0" "00006" "DDX3X_000054" "g.41203014T>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41343761T>C" "" "pathogenic (dominant)" "" "0000455181" "0" "90" "X" "41204661" "41204661" "subst" "0" "00006" "DDX3X_000061" "g.41204661T>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345408T>C" "" "pathogenic (dominant)" "" "0000455182" "0" "90" "X" "41205629" "41205629" "subst" "0" "00006" "DDX3X_000022" "g.41205629G>A" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346376G>A" "" "pathogenic (dominant)" "" "0000455183" "0" "90" "X" "41204533" "41204533" "subst" "0" "00006" "DDX3X_000002" "g.41204533C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345280C>T" "" "pathogenic (dominant)" "" "0000455184" "0" "90" "X" "41204736" "41204736" "subst" "0" "00006" "DDX3X_000063" "g.41204736A>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41345483A>C" "" "pathogenic (dominant)" "" "0000455185" "0" "90" "X" "41203008" "41203008" "subst" "0" "00006" "DDX3X_000053" "g.41203008C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41343755C>T" "" "pathogenic (dominant)" "" "0000455186" "0" "90" "X" "41203558" "41203558" "subst" "0" "00006" "DDX3X_000057" "g.41203558C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41344305C>T" "" "pathogenic (dominant)" "" "0000455187" "0" "90" "X" "41196659" "41196659" "subst" "0" "00006" "DDX3X_000049" "g.41196659A>C" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41337406A>C" "" "pathogenic (dominant)" "" "0000455188" "0" "90" "X" "41206174" "41206176" "del" "0" "00006" "DDX3X_000073" "g.41206174_41206176del" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346921_41346923del" "" "pathogenic (dominant)" "" "0000455189" "0" "90" "X" "41205589" "41205589" "subst" "0" "00006" "DDX3X_000067" "g.41205589C>G" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346336C>G" "" "pathogenic (dominant)" "" "0000455190" "0" "90" "X" "41196659" "41196659" "subst" "0" "00006" "DDX3X_000050" "g.41196659A>G" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41337406A>G" "" "pathogenic (dominant)" "" "0000455191" "0" "90" "X" "41206199" "41206199" "subst" "0" "00006" "DDX3X_000007" "g.41206199C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346946C>T" "" "pathogenic (dominant)" "" "0000455192" "0" "90" "X" "41205786" "41205786" "subst" "0" "00006" "DDX3X_000069" "g.41205786A>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "" "" "0" "" "" "g.41346533A>T" "" "pathogenic (dominant)" "" "0000455193" "21" "90" "X" "41204491" "41204491" "subst" "0" "00006" "DDX3X_000059" "g.41204491C>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41345238C>T" "" "pathogenic (recessive)" "" "0000455194" "21" "90" "X" "41204459" "41204459" "subst" "0" "00006" "DDX3X_000048" "g.41204459G>A" "" "{PMID:Hu 2016:25644381}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41345206G>A" "" "pathogenic (recessive)" "" "0000455195" "20" "90" "X" "41203525" "41203525" "subst" "0" "00006" "DDX3X_000046" "g.41203525G>T" "" "{PMID:Snijders-Blok 2015:26235985}" "" "" "" "De novo" "yes" "" "0" "" "" "g.41344272G>T" "" "pathogenic (recessive)" "" "0000575950" "0" "70" "X" "41196656" "41196658" "del" "0" "02327" "DDX3X_000074" "g.41196656_41196658del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41337403_41337405del" "" "likely pathogenic" "" "0000575951" "0" "30" "X" "41198286" "41198286" "del" "0" "02327" "DDX3X_000075" "g.41198286del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41339033del" "" "likely benign" "" "0000575952" "0" "90" "X" "41198321" "41198321" "subst" "0" "01943" "DDX3X_000004" "g.41198321C>T" "" "" "" "DDX3X(NM_001356.4):c.136C>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41339068C>T" "" "pathogenic" "" "0000575953" "0" "30" "X" "41200755" "41200755" "subst" "7.32233E-5" "01804" "DDX3X_000076" "g.41200755G>A" "" "" "" "DDX3X(NM_001193416.1):c.170G>A (p.(Ser57Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41341502G>A" "" "likely benign" "" "0000575954" "0" "50" "X" "41201884" "41201884" "subst" "0" "01943" "DDX3X_000077" "g.41201884C>G" "" "" "" "DDX3X(NM_001356.4):c.421C>G (p.P141A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41342631C>G" "" "VUS" "" "0000575955" "0" "90" "X" "41201999" "41202000" "del" "0" "01943" "DDX3X_000078" "g.41201999_41202000del" "" "" "" "DDX3X(NM_001356.4):c.453_454delTT (p.S152Wfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41342746_41342747del" "" "pathogenic" "" "0000575956" "0" "50" "X" "41202004" "41202004" "subst" "0" "01943" "DDX3X_000079" "g.41202004G>T" "" "" "" "DDX3X(NM_001356.4):c.458G>T (p.G153V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41342751G>T" "" "VUS" "" "0000575959" "0" "70" "X" "41203504" "41203504" "subst" "0" "02327" "DDX3X_000082" "g.41203504T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41344251T>C" "" "likely pathogenic" "" "0000575960" "0" "70" "X" "41203577" "41203577" "subst" "0" "02327" "DDX3X_000083" "g.41203577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41344324G>A" "" "likely pathogenic" "" "0000575961" "0" "30" "X" "41203596" "41203596" "subst" "0.000274029" "01943" "DDX3X_000084" "g.41203596T>C" "" "" "" "DDX3X(NM_001356.4):c.969T>C (p.T323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41344343T>C" "" "likely benign" "" "0000575962" "0" "50" "X" "41203603" "41203603" "subst" "0" "02327" "DDX3X_000085" "g.41203603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41344350C>T" "" "VUS" "" "0000575963" "0" "70" "X" "41204563" "41204563" "subst" "0" "02327" "DDX3X_000086" "g.41204563C>T" "" "" "" "DDX3X(NM_001356.5):c.1156C>T (p.P386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41345310C>T" "" "likely pathogenic" "" "0000575964" "0" "70" "X" "41204563" "41204563" "subst" "0" "02329" "DDX3X_000086" "g.41204563C>T" "" "" "" "DDX3X(NM_001356.5):c.1156C>T (p.P386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41345310C>T" "" "likely pathogenic" "" "0000575965" "0" "50" "X" "41205658" "41205658" "subst" "0" "01943" "DDX3X_000087" "g.41205658A>G" "" "" "" "DDX3X(NM_001356.4):c.1492A>G (p.T498A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346405A>G" "" "VUS" "" "0000575966" "0" "70" "X" "41205842" "41205842" "subst" "0" "02325" "DDX3X_000088" "g.41205842C>T" "" "" "" "DDX3X(NM_001356.5):c.1582C>T (p.R528C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346589C>T" "" "likely pathogenic" "" "0000575967" "0" "50" "X" "41205852" "41205852" "subst" "0" "01943" "DDX3X_000089" "g.41205852G>A" "" "" "" "DDX3X(NM_001356.4):c.1592G>A (p.R531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346599G>A" "" "VUS" "" "0000575968" "0" "90" "X" "41205857" "41205861" "dup" "0" "01943" "DDX3X_000090" "g.41205857_41205861dup" "" "" "" "DDX3X(NM_001356.4):c.1597_1601dupGGACG (p.V535Dfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346604_41346608dup" "" "pathogenic" "" "0000575971" "0" "50" "X" "41206926" "41206926" "subst" "0" "01943" "DDX3X_000093" "g.41206926A>G" "" "" "" "DDX3X(NM_001356.4):c.1943A>G (p.Y648C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41347673A>G" "" "VUS" "" "0000619554" "0" "70" "X" "41202509" "41202509" "subst" "0" "02327" "DDX3X_000094" "g.41202509T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41343256T>G" "" "likely pathogenic" "" "0000619555" "0" "90" "X" "41203491" "41203491" "subst" "0" "01804" "DDX3X_000095" "g.41203491G>A" "" "" "" "DDX3X(NM_001193416.1):c.865-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41344238G>A" "" "pathogenic" "" "0000619556" "0" "90" "X" "41204533" "41204533" "subst" "0" "02329" "DDX3X_000002" "g.41204533C>T" "" "" "" "DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.5):c.1126C>T (p.R376C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41345280C>T" "" "pathogenic" "" "0000619557" "0" "70" "X" "41205496" "41205496" "dup" "0" "02327" "DDX3X_000096" "g.41205496dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346243dup" "" "likely pathogenic" "" "0000619558" "0" "70" "X" "41206602" "41206602" "subst" "0" "02327" "DDX3X_000026" "g.41206602C>T" "" "" "" "DDX3X(NM_001356.5):c.1807C>T (p.R603*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41347349C>T" "" "likely pathogenic" "" "0000624614" "0" "50" "X" "41205821" "41205821" "subst" "0" "02329" "DDX3X_000097" "g.41205821G>A" "" "" "" "DDX3X(NM_001356.4):c.1561G>A (p.D521N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346568G>A" "" "VUS" "" "0000624615" "0" "30" "X" "41206109" "41206109" "subst" "5.22136E-5" "01943" "DDX3X_000098" "g.41206109T>C" "" "" "" "DDX3X(NM_001363819.1):c.1058-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41346856T>C" "" "likely benign" "" "0000624899" "0" "70" "X" "41202045" "41202045" "subst" "0" "01807" "DDX3X_000099" "g.41202045C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41342792C>T" "" "likely pathogenic" "" "0000631922" "0" "90" "X" "41196692" "41196692" "del" "0" "01807" "DDX3X_000100" "g.41196692del" "" "" "" "77delA" "" "Unknown" "" "" "0" "" "" "g.41337439del" "" "pathogenic" "" "0000659297" "0" "90" "X" "41200809" "41200809" "dup" "0" "02327" "DDX3X_000101" "g.41200809dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41341556dup" "" "pathogenic" "" "0000659299" "0" "30" "X" "41204806" "41204806" "subst" "1.83495E-5" "01943" "DDX3X_000021" "g.41204806C>T" "" "" "" "DDX3X(NM_001363819.1):c.757+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41345553C>T" "" "likely benign" "" "0000665312" "0" "70" "X" "41205834" "41205834" "subst" "0" "03670" "DDX3X_000104" "g.41205834A>G" "" "{PMID:Okano 2020:32896648}" "" "" "" "De novo" "-" "" "0" "" "" "g.41346581A>G" "" "likely pathogenic" "" "0000667195" "0" "70" "X" "41204802" "41204802" "subst" "0" "01807" "DDX3X_000105" "g.41204802G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41345549G>C" "" "likely pathogenic" "" "0000667468" "0" "90" "X" "41203531" "41203531" "subst" "0" "00006" "DDX3X_000106" "g.41203531G>A" "" "{PMID:Fieremans 2016:27159028}" "" "NM_001193417.2:c.856G>A" "" "Germline/De novo (untested)" "" "" "0" "skewed X-inactivation (1:99 pat:mat)" "" "g.41344278G>A" "" "pathogenic" "" "0000667469" "0" "90" "X" "41202502" "41202502" "subst" "0" "00006" "DDX3X_000107" "g.41202502G>T" "" "{PMID:Fieremans 2016:27159028}" "" "NM_001193417.2:c.529G>T" "RNA expression only reference allele" "De novo" "" "" "0" "skewed X-inactivation (92:8 pat:mat)" "" "g.41343249G>T" "" "pathogenic" "" "0000668645" "21" "70" "X" "41204534" "41204534" "subst" "0" "03671" "DDX3X_000108" "g.41204534G>A" "" "{PMID:Nicola 2019:30734472}" "" "" "" "De novo" "" "" "0" "" "" "g.41345281G>A" "" "likely pathogenic (recessive)" "" "0000668646" "20" "90" "X" "41205652" "41205652" "subst" "0" "03671" "DDX3X_000109" "g.41205652G>A" "" "{PMID:Nicola 2019:30734472}" "" "" "" "De novo" "" "" "0" "" "" "g.41346399G>A" "" "likely pathogenic (recessive)" "" "0000668647" "0" "90" "X" "41206198" "41206198" "subst" "0" "03671" "DDX3X_000110" "g.41206198C>T" "" "{PMID:Nicola 2019:30734472}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41346945C>T" "" "likely pathogenic" "" "0000668666" "20" "90" "X" "41200821" "41200821" "subst" "5.59553E-6" "03671" "DDX3X_000111" "g.41200821G>A" "" "{PMID:Kellaris 2018:29490693}" "" "" "" "De novo" "" "" "0" "" "" "g.41341568G>A" "" "likely pathogenic" "" "0000668667" "20" "90" "X" "41200821" "41200821" "subst" "5.59553E-6" "03671" "DDX3X_000111" "g.41200821G>A" "" "{PMID:Kellaris 2018:29490693}" "" "" "" "De novo" "" "" "0" "" "" "g.41341568G>A" "" "likely pathogenic (recessive)" "" "0000674011" "0" "70" "X" "41206602" "41206602" "subst" "0" "01807" "DDX3X_000026" "g.41206602C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000682431" "0" "90" "X" "41200847" "41200847" "del" "0" "01943" "DDX3X_000112" "g.41200847del" "" "" "" "DDX3X(NM_001356.4):c.262delC (p.R88Vfs*133)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000686211" "0" "70" "X" "41204557" "41204557" "subst" "0" "01807" "DDX3X_000113" "g.41204557A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000704165" "0" "70" "X" "41205589" "41205589" "subst" "0" "01807" "DDX3X_000115" "g.41205589C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000704242" "0" "70" "X" "41202525" "41202526" "dup" "0" "01164" "DDX3X_000114" "g.41202525_41202526dup" "" "" "" "" "ACMG: PVS1, PM2, class 4; suspected de novo, segregation/ de novo status not analysed yet" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000728892" "0" "90" "X" "41204438" "41204438" "subst" "0" "02329" "DDX3X_000017" "g.41204438T>A" "" "" "" "DDX3X(NM_001356.5):c.1031T>A (p.L344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728893" "0" "90" "X" "41204533" "41204533" "subst" "0" "02329" "DDX3X_000102" "g.41204533C>G" "" "" "" "DDX3X(NM_001193416.3):c.1126C>G (p.R376G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728894" "0" "50" "X" "41205623" "41205623" "subst" "0" "02329" "DDX3X_000103" "g.41205623A>C" "" "" "" "DDX3X(NM_001356.4):c.1457A>C (p.Q486P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728895" "0" "70" "X" "41205629" "41205629" "subst" "0" "02329" "DDX3X_000022" "g.41205629G>A" "" "" "" "DDX3X(NM_001356.5):c.1463G>A (p.R488H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728896" "0" "50" "X" "41205825" "41205825" "subst" "0" "02327" "DDX3X_000116" "g.41205825T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728897" "0" "70" "X" "41206172" "41206172" "subst" "0" "02329" "DDX3X_000091" "g.41206172T>A" "" "" "" "DDX3X(NM_001356.5):c.1676T>A (p.L559H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728898" "0" "90" "X" "41206602" "41206602" "subst" "0" "02329" "DDX3X_000026" "g.41206602C>T" "" "" "" "DDX3X(NM_001356.5):c.1807C>T (p.R603*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000733985" "0" "70" "X" "41200743" "41200743" "subst" "0" "04011" "DDX3X_000117" "g.41200743A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734648" "0" "70" "X" "41200743" "41200743" "subst" "0" "04011" "DDX3X_000117" "g.41200743A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000788611" "0" "70" "X" "41206199" "41206199" "subst" "0" "01164" "DDX3X_000007" "g.41206199C>T" "" "PMID: 28371085, 26235985" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000810380" "0" "90" "X" "41196660" "41196660" "subst" "0" "02325" "DDX3X_000118" "g.41196660G>A" "" "" "" "DDX3X(NM_001193416.3):c.46-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810381" "0" "30" "X" "41196713" "41196713" "subst" "0" "01943" "DDX3X_000119" "g.41196713C>T" "" "" "" "DDX3X(NM_001356.4):c.98C>T (p.A33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810382" "0" "30" "X" "41200837" "41200837" "subst" "2.23912E-5" "01943" "DDX3X_000120" "g.41200837C>T" "" "" "" "DDX3X(NM_001356.4):c.252C>T (p.F84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810383" "0" "50" "X" "41202037" "41202037" "subst" "0" "01943" "DDX3X_000121" "g.41202037A>G" "" "" "" "DDX3X(NM_001356.4):c.491A>G (p.D164G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810384" "0" "30" "X" "41203497" "41203497" "subst" "5.68443E-6" "01943" "DDX3X_000122" "g.41203497A>G" "" "" "" "DDX3X(NM_001356.4):c.870A>G (p.S290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810385" "0" "50" "X" "41203650" "41203650" "subst" "0" "01943" "DDX3X_000123" "g.41203650C>T" "" "" "" "DDX3X(NM_001356.4):c.1023C>T (p.C341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810386" "0" "70" "X" "41204533" "41204533" "subst" "0" "02325" "DDX3X_000002" "g.41204533C>T" "" "" "" "DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.5):c.1126C>T (p.R376C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810387" "0" "30" "X" "41205600" "41205600" "subst" "0.000128966" "01943" "DDX3X_000124" "g.41205600G>A" "" "" "" "DDX3X(NM_001363819.1):c.876G>A (p.R292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817728" "3" "70" "X" "41203594" "41203594" "subst" "5.59243E-6" "00006" "DDX3X_000125" "g.41203594A>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.41344341A>G" "" "likely pathogenic (recessive)" "ACMG" "0000817884" "3" "90" "X" "41204491" "41204491" "subst" "0" "00006" "DDX3X_000059" "g.41204491C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.41345238C>T" "" "pathogenic (recessive)" "ACMG" "0000841172" "0" "90" "X" "41202045" "41202045" "subst" "0" "00006" "DDX3X_000099" "g.41202045C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "De novo" "" "" "0" "" "" "g.41342792C>T" "" "pathogenic (dominant)" "" "0000856606" "0" "50" "X" "41200811" "41200813" "del" "0" "02325" "DDX3X_000011" "g.41200811_41200813del" "" "" "" "DDX3X(NM_001193416.3):c.226_228delAGT (p.S76del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856607" "0" "30" "X" "41204677" "41204677" "subst" "0.000454585" "01943" "DDX3X_000129" "g.41204677A>G" "" "" "" "DDX3X(NM_001356.4):c.1191A>G (p.L397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867365" "0" "30" "X" "41201832" "41201832" "subst" "0" "01943" "DDX3X_000126" "g.41201832A>G" "" "" "" "DDX3X(NM_001356.4):c.369A>G (p.G123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867366" "0" "90" "X" "41203501" "41203501" "subst" "0" "01804" "DDX3X_000041" "g.41203501C>T" "" "" "" "DDX3X(NM_001193416.1):c.874C>T (p.(Arg292*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867367" "0" "50" "X" "41203570" "41203570" "subst" "0" "02327" "DDX3X_000127" "g.41203570C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867368" "0" "50" "X" "41204426" "41204427" "del" "1.14508E-5" "01943" "DDX3X_000128" "g.41204426_41204427del" "" "" "" "DDX3X(NM_001356.4):c.1026-7_1026-6delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867369" "0" "90" "X" "41204533" "41204533" "subst" "0" "01804" "DDX3X_000002" "g.41204533C>T" "" "" "" "DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.5):c.1126C>T (p.R376C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867370" "0" "30" "X" "41205476" "41205476" "subst" "6.18996E-5" "01943" "DDX3X_000130" "g.41205476C>T" "" "" "" "DDX3X(NM_001356.4):c.1316-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867371" "0" "70" "X" "41205795" "41205795" "subst" "0" "02329" "DDX3X_000131" "g.41205795A>G" "" "" "" "DDX3X(NM_001193416.3):c.1535A>G (p.H512R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000874568" "0" "70" "X" "41206174" "41206176" "del" "0" "01164" "DDX3X_000023" "g.41206174_41206176del" "" "PMID 26235985; 31278258" "" "" "ACMG: PS2, PS4_SUP, PM2_SUP, PP2, PP3; confirmed de novo in trio exome" "De novo" "-" "" "" "" "" "g.41346921_41346923del" "VCV000503738.19" "likely pathogenic (dominant)" "ACMG" "0000881124" "0" "90" "X" "41203558" "41203558" "subst" "0" "02300" "DDX3X_000057" "g.41203558C>T" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001193417.2:c.883C>T (Arg295Ter)" "ACMG PVS1, PM1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.41344305C>T" "RCV001260602.1" "pathogenic (dominant)" "ACMG" "0000896214" "0" "70" "X" "41203323" "41203323" "subst" "0" "02329" "DDX3X_000132" "g.41203323C>T" "" "" "" "DDX3X(NM_001193416.3):c.806C>T (p.S269F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896215" "0" "90" "X" "41203490" "41203490" "subst" "0" "02327" "DDX3X_000056" "g.41203490A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896216" "0" "90" "X" "41203491" "41203491" "subst" "0" "02329" "DDX3X_000081" "g.41203491G>C" "" "" "" "DDX3X(NM_001193416.3):c.865-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896217" "0" "50" "X" "41204533" "41204533" "subst" "0" "02327" "DDX3X_000102" "g.41204533C>G" "" "" "" "DDX3X(NM_001193416.3):c.1126C>G (p.R376G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896218" "0" "50" "X" "41204533" "41204533" "subst" "0" "02327" "DDX3X_000002" "g.41204533C>T" "" "" "" "DDX3X(NM_001193416.1):c.1126C>T (p.(Arg376Cys)), DDX3X(NM_001193416.3):c.1126C>T (p.R376C), DDX3X(NM_001356.5):c.1126C>T (p.R376C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896219" "0" "90" "X" "41205795" "41205796" "del" "0" "02329" "DDX3X_000070" "g.41205795_41205796del" "" "" "" "DDX3X(NM_001193416.3):c.1535_1536delAT (p.H512Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000897211" "0" "90" "X" "41204533" "41204533" "subst" "0" "01164" "DDX3X_000002" "g.41204533C>T" "" "PMID: 32852922, 26235985" "" "" "ACMG: PS2, PS4, PM2_SUP, PP2; confirmed de novo; VAF 25%" "De novo" "-" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000898139" "0" "70" "X" "41202532" "41202532" "subst" "0" "01164" "DDX3X_000133" "g.41202532C>T" "" "" "" "" "ACMG: PS2_MOD, PM1, PM2_SUP, PP2, PP3; confirmed de novo in trio-exome; missense variants p.Thr198Pro, p.Tyr200Cys, p.Arg202Leu, p.Pro205Leu and p.Val206Met are described as pathogenic de novo pathogenic variants" "De novo" "-" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000918375" "0" "70" "X" "41206118" "41206118" "subst" "0" "03779" "DDX3X_000135" "g.41206118C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000920777" "0" "50" "X" "41205668" "41205711" "del" "0" "01164" "DDX3X_000134" "g.41205668_41205711del" "" "" "" "" "ACMG: PS2_MOD, PM2_SUP, PP3, confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.41346415_41346458del" "" "VUS (!)" "ACMG" "0000931414" "0" "30" "X" "41203376" "41203376" "subst" "0" "02327" "DDX3X_000136" "g.41203376A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931415" "0" "90" "X" "41203521" "41203521" "subst" "0" "02327" "DDX3X_000137" "g.41203521C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936420" "0" "70" "X" "41205861" "41205861" "subst" "0" "00006" "DDX3X_000003" "g.41205861G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001356:c.G1601A (R534H)" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000939892" "0" "70" "X" "41203350" "41203350" "dup" "0" "00006" "DDX3X_000138" "g.41203350dup" "" "{PMID:Nambot 2018:29095811}" "" "833dupT" "" "De novo" "" "" "0" "" "" "g.41344097dup" "" "likely pathogenic (dominant)" "" "0000939893" "0" "70" "X" "41203514" "41203514" "subst" "0" "00006" "DDX3X_000139" "g.41203514G>C" "" "{PMID:Nambot 2018:29095811}" "" "NM_001193416.1:c.887G>C" "" "De novo" "" "" "0" "" "" "g.41344261G>C" "" "likely pathogenic (dominant)" "" "0000939894" "0" "70" "X" "41203347" "41203348" "del" "0" "00006" "DDX3X_000015" "g.41203347_41203348del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41344094_41344095del" "" "likely pathogenic (dominant)" "" "0000951754" "0" "50" "X" "41200791" "41200791" "subst" "0" "02325" "DDX3X_000140" "g.41200791A>T" "" "" "" "DDX3X(NM_001193416.3):c.206A>T (p.Y69F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951755" "0" "90" "X" "41203558" "41203558" "subst" "0" "02327" "DDX3X_000057" "g.41203558C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951756" "0" "70" "X" "41204802" "41204802" "subst" "0" "02329" "DDX3X_000105" "g.41204802G>C" "" "" "" "DDX3X(NM_001193416.3):c.1315+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000960253" "0" "70" "X" "41204452" "41204452" "subst" "0" "00006" "DDX3X_000141" "g.41204452G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.41345199G>A" "" "likely pathogenic" "" "0000971080" "0" "90" "X" "41205589" "41205589" "subst" "0" "02327" "DDX3X_000067" "g.41205589C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984681" "0" "30" "X" "41198279" "41198279" "subst" "0.00259639" "01804" "DDX3X_000143" "g.41198279A>T" "" "" "" "DDX3X(NM_001356.5):c.104-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984682" "0" "70" "X" "41203598" "41203598" "subst" "0" "02329" "DDX3X_000144" "g.41203598C>A" "" "" "" "DDX3X(NM_001193416.3):c.971C>A (p.P324Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984683" "0" "30" "X" "41205477" "41205477" "subst" "1.23328E-5" "01804" "DDX3X_000145" "g.41205477G>A" "" "" "" "DDX3X(NM_001356.5):c.1316-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987864" "0" "70" "X" "41198307" "41198309" "del" "0" "03544" "DDX3X_000146" "g.41198307_41198309del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41339054_41339056del" "" "likely pathogenic" "ACMG" "0001006753" "0" "30" "X" "41198330" "41198330" "subst" "0" "01804" "DDX3X_000147" "g.41198330A>G" "" "" "" "DDX3X(NM_001193416.1):c.145A>G (p.(Thr49Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011151" "21" "70" "X" "41203570" "41203570" "subst" "0" "00006" "DDX3X_000127" "g.41203570C>A" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "variant de novo in mother" "Germline" "" "" "0" "" "" "g.41344317C>A" "" "VUS" "" "0001016593" "0" "70" "X" "41202551" "41202551" "subst" "0" "04771" "DDX3X_000148" "g.41202551A>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.41343298A>T" "" "likely pathogenic" "" "0001016595" "0" "70" "X" "41205533" "41205533" "subst" "0" "04771" "DDX3X_000149" "g.41205533C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.41346280C>T" "" "likely pathogenic" "" "0001016596" "21" "50" "X" "41205549" "41205549" "subst" "0" "04771" "DDX3X_000151" "g.41205549A>T" "" "" "" "" "maternal variant, not present in maternal grandmother" "Germline" "" "" "0" "" "" "g.41346296A>T" "" "VUS" "" "0001016597" "21" "50" "X" "41205616" "41205616" "subst" "0" "04771" "DDX3X_000152" "g.41205616C>G" "" "" "" "" "maternal variant" "Germline" "" "" "0" "" "" "g.41346363C>G" "" "VUS" "" "0001016599" "0" "90" "X" "41205628" "41205628" "subst" "0" "04771" "DDX3X_000150" "g.41205628C>T" "" "" "" "" "Recurrent variant found in 5 unrelated male individuals in our preliminary DDX3X study (4x de novo, 1x maternal) - might partially overlap with ClinVar entries" "De novo" "" "" "0" "" "" "g.41346375C>T" "{CV:207816}" "pathogenic" "" "0001016601" "21" "50" "X" "41206198" "41206198" "subst" "0" "04771" "DDX3X_000153" "g.41206198C>G" "" "" "" "" "Maternal variant (also present in maternal grandmother)" "Germline" "" "" "0" "" "" "g.41346945C>G" "" "VUS" "" "0001016602" "21" "50" "X" "41206878" "41206891" "del" "0" "04771" "DDX3X_000154" "g.41206878_41206891del" "" "" "" "" "Maternal variant" "Germline" "" "" "0" "" "" "g.41347625_41347638del" "" "VUS" "" "0001016603" "21" "50" "X" "41206891" "41206891" "subst" "0" "04771" "DDX3X_000155" "g.41206891A>G" "" "" "" "" "Maternal variant" "Germline" "" "" "0" "" "" "g.41347638A>G" "" "VUS" "" "0001021171" "0" "70" "X" "41202000" "41202000" "dup" "0" "01164" "DDX3X_000156" "g.41202000dup" "" "" "" "" "ACMG: PVS1, PS2_SUP, PS4_SUP, PM2_SUP" "Germline" "?" "" "" "" "" "g.41342747dup" "VCV000978389.14" "pathogenic (dominant)" "ACMG" "0001022146" "0" "70" "X" "41203650" "41203650" "subst" "0" "04796" "DDX3X_000123" "g.41203650C>T" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.41344397C>T" "" "likely pathogenic" "" "0001029734" "0" "90" "X" "41206100" "41206117" "del" "0" "04409" "DDX3X_000157" "g.41206100_41206117del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41346847_41346864del" "" "pathogenic (dominant)" "ACMG" "0001030098" "0" "70" "X" "41206131" "41206131" "dup" "0" "03544" "DDX3X_000158" "g.41206131dup" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.41346878dup" "{CV:4083508}" "likely pathogenic" "ACMG" "0001030935" "0" "70" "X" "41205607" "41205608" "dup" "0" "03544" "DDX3X_000159" "g.41205607_41205608dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41346354_41346355dup" "{CV:3912067}" "pathogenic" "ACMG" "0001044328" "0" "30" "X" "41200819" "41200819" "subst" "0.000682636" "01804" "DDX3X_000160" "g.41200819A>T" "" "" "" "DDX3X(NM_001356.5):c.234A>T (p.(Ser78=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044329" "0" "30" "X" "41200832" "41200832" "subst" "5.59713E-6" "01804" "DDX3X_000161" "g.41200832A>G" "" "" "" "DDX3X(NM_001356.5):c.247A>G (p.(Ser83Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044330" "0" "30" "X" "41205098" "41205098" "subst" "0" "01804" "DDX3X_000162" "g.41205098T>G" "" "" "" "DDX3X(NM_001356.5):c.1315+297T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047539" "0" "70" "X" "41204730" "41204730" "subst" "0" "03544" "DDX3X_000163" "g.41204730T>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41345477T>C" "{CV:4526895}" "likely pathogenic" "ACMG" "0001048391" "0" "70" "X" "41204802" "41204802" "subst" "0" "03779" "DDX3X_000164" "g.41204802G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001057311" "0" "50" "X" "41193155" "41193155" "subst" "0" "01804" "DDX3X_000165" "g.41193155G>A" "" "" "" "DDX3X(NR_126093.1):n.595G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057312" "0" "90" "X" "41202000" "41202000" "dup" "0" "01804" "DDX3X_000156" "g.41202000dup" "" "" "" "DDX3X(NM_001356.5):c.454dup (p.(Ser152Phefs*8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001057313" "0" "30" "X" "41205844" "41205844" "subst" "2.27238E-5" "01804" "DDX3X_000166" "g.41205844T>C" "" "" "" "DDX3X(NM_001356.5):c.1584T>C (p.(Arg528=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057314" "0" "90" "X" "41206199" "41206199" "subst" "0" "01804" "DDX3X_000007" "g.41206199C>T" "" "" "" "DDX3X(NM_001356.5):c.1703C>T (p.(Pro568Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001061954" "0" "50" "X" "41204446" "41204446" "subst" "0" "03779" "chrX_020385" "g.41204446G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DDX3X ## Count = 196 "{{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}}" "0000010896" "00024249" "00" "103" "193" "103" "193" "c.103+193dup" "r.(=)" "p.(=)" "" "0000079297" "00024249" "00" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000079308" "00024249" "00" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Ile214Thr)" "" "0000079492" "00024249" "00" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46*)" "" "0000079527" "00024249" "00" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534His)" "" "0000169016" "00024249" "90" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "15" "0000169017" "00024249" "90" "192" "0" "192" "0" "c.192dup" "r.(?)" "p.(Asp65Argfs*2)" "4" "0000169041" "00024249" "90" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Arg121Leu)" "5" "0000267309" "00024249" "90" "1037" "0" "1037" "0" "c.1037T>G" "r.(?)" "p.(Leu346Ter)" "" "0000267310" "00024249" "90" "1154" "0" "1159" "0" "c.1154_1159del" "r.(?)" "p.(Phe385Ter)" "" "0000267311" "00024249" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121His)" "" "0000268662" "00024249" "90" "1170" "1" "1170" "1" "c.1170+1G>A" "r.spl?" "p.?" "" "0000268663" "00024249" "90" "731" "0" "731" "0" "c.731C>G" "r.(?)" "p.(Ser244Ter)" "" "0000268664" "00024249" "90" "830" "0" "831" "0" "c.830_831del" "r.(?)" "p.(Glu277ValfsTer17)" "" "0000270689" "00024249" "90" "731" "0" "731" "0" "c.731C>G" "r.(?)" "p.(Ser244Ter)" "" "0000274925" "00024249" "70" "1026" "-6" "1026" "-6" "c.1026-6T>G" "r.(=)" "p.(=)" "" "0000333807" "00024249" "50" "152" "-5" "152" "-5" "c.152-5C>G" "r.spl?" "p.?" "" "0000333810" "00024249" "50" "1678" "0" "1680" "0" "c.1678_1680del" "r.(?)" "p.(Leu560del)" "" "0000333811" "00024249" "50" "1740" "0" "1740" "0" "c.1740C>G" "r.(?)" "p.(Tyr580Ter)" "" "0000336337" "00024249" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Gln148*)" "" "0000338005" "00024249" "70" "444" "-1" "444" "-1" "c.444-1G>C" "r.spl?" "p.?" "" "0000342968" "00024249" "70" "1440" "0" "1440" "0" "c.1440A>T" "r.(?)" "p.(Arg480Ser)" "" "0000343903" "00024249" "90" "386" "0" "386" "0" "c.386dup" "r.(?)" "p.(Asp129GlufsTer5)" "" "0000344900" "00024249" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Gln565Ter)" "" "0000347234" "00024249" "90" "1712" "0" "1712" "0" "c.1712T>G" "r.(?)" "p.(Leu571Ter)" "" "0000348507" "00024249" "70" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "" "0000349555" "00024249" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "0000350028" "00024249" "70" "873" "0" "873" "0" "c.873C>A" "r.(?)" "p.(Tyr291Ter)" "" "0000350499" "00024249" "70" "1033" "0" "1033" "0" "c.1033G>T" "r.(?)" "p.(Val345Leu)" "" "0000369301" "00024249" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "" "0000393136" "00024249" "50" "1939" "0" "1939" "0" "c.1939G>A" "r.(?)" "p.(Gly647Arg)" "" "0000455089" "00024249" "90" "641" "0" "643" "0" "c.641_643del" "r.(?)" "p.(Ile214del)" "7" "0000455090" "00024249" "90" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Gly504Glu)" "14" "0000455091" "00024249" "90" "1436" "0" "1439" "0" "c.1436_1439delinsTCTC" "r.(?)" "p.(Asp479_Arg480delinsValSer)" "13" "0000455159" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "11" "0000455160" "00024249" "90" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78*)" "4" "0000455161" "00024249" "90" "1520" "0" "1520" "0" "c.1520T>C" "r.(?)" "p.(Ile507Thr)" "14" "0000455162" "00024249" "90" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Arg326His)" "10" "0000455163" "00024249" "90" "868" "0" "868" "0" "c.868del" "r.(?)" "p.(Ser290Hisfs*31)" "10" "0000455164" "00024249" "90" "1229" "0" "1230" "0" "c.1229_1230dup" "r.(?)" "p.(Thr411Leufs*10)" "12" "0000455165" "00024249" "90" "1105" "0" "1105" "0" "c.1105dup" "r.(?)" "p.(Thr369Asnfs*14)" "11" "0000455166" "00024249" "90" "865" "-2" "865" "-2" "c.865-2A>G" "r.spl" "p.?" "9i" "0000455167" "00024249" "90" "1600" "0" "1600" "0" "c.1600dup" "r.(?)" "p.(Arg534Profs*13)" "14" "0000455168" "00024249" "90" "269" "0" "269" "0" "c.269dup" "r.(?)" "p.(Ser90Argfs*8)" "4" "0000455169" "00024249" "90" "1440" "0" "1440" "0" "c.1440A>T" "r.(?)" "p.(Arg480Ser)" "13" "0000455170" "00024249" "90" "873" "0" "873" "0" "c.873C>A" "r.(?)" "p.(Tyr291*)" "10" "0000455171" "00024249" "90" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Gln565*)" "15" "0000455172" "00024249" "90" "1535" "0" "1536" "0" "c.1535_1536del" "r.(?)" "p.(His512Argfs*5)" "14" "0000455173" "00024249" "90" "766" "-1" "766" "-1" "c.766-1G>C" "r.spl" "p.?" "8i" "0000455174" "00024249" "90" "599" "0" "599" "0" "c.599dup" "r.(?)" "p.(Tyr200*)" "7" "0000455175" "00024249" "90" "1321" "0" "1321" "0" "c.1321del" "r.(?)" "p.(Asp441Ilefs*3)" "13" "0000455176" "00024249" "90" "1383" "0" "1383" "0" "c.1383dup" "r.(?)" "p.(Tyr462Ilefs*3)" "13" "0000455177" "00024249" "90" "1384" "0" "1385" "0" "c.1384_1385dup" "r.(?)" "p.(His463Thrfs*34)" "13" "0000455178" "00024249" "90" "1535" "0" "1536" "0" "c.1535_1536del" "r.(?)" "p.(His512Argfs*5)" "14" "0000455179" "00024249" "90" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Ile514Thr)" "14" "0000455180" "00024249" "90" "704" "0" "704" "0" "c.704T>C" "r.(?)" "p.(Leu235Pro)" "8" "0000455181" "00024249" "90" "1175" "0" "1175" "0" "c.1175T>C" "r.(?)" "p.(Leu392Pro)" "12" "0000455182" "00024249" "90" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "13" "0000455183" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "11" "0000455184" "00024249" "90" "1250" "0" "1250" "0" "c.1250A>C" "r.(?)" "p.(Gln417Pro)" "12" "0000455185" "00024249" "90" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Ala233Val)" "8" "0000455186" "00024249" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311*)" "10" "0000455187" "00024249" "90" "46" "-2" "46" "-2" "c.46-2A>C" "r.spl" "p.?" "1i" "0000455188" "00024249" "90" "1678" "0" "1680" "0" "c.1678_1680del" "r.(?)" "p.(Leu560del)" "15" "0000455189" "00024249" "90" "1423" "0" "1423" "0" "c.1423C>G" "r.(?)" "p.(Arg475Gly)" "13" "0000455190" "00024249" "90" "46" "-2" "46" "-2" "c.46-2A>G" "r.spl" "p.?" "1i" "0000455191" "00024249" "90" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "15" "0000455192" "00024249" "90" "1526" "0" "1526" "0" "c.1526A>T" "r.(?)" "p.(Asn509Ile)" "14" "0000455193" "00024249" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Cys)" "11" "0000455194" "00024249" "90" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "11" "0000455195" "00024249" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Val300Phe)" "10" "0000575950" "00024249" "70" "46" "-5" "46" "-3" "c.46-5_46-3del" "r.spl?" "p.?" "" "0000575951" "00024249" "30" "104" "-3" "104" "-3" "c.104-3del" "r.spl?" "p.?" "" "0000575952" "00024249" "90" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Ter)" "" "0000575953" "00024249" "30" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Ser57Asn)" "" "0000575954" "00024249" "50" "421" "0" "421" "0" "c.421C>G" "r.(?)" "p.(Pro141Ala)" "" "0000575955" "00024249" "90" "453" "0" "454" "0" "c.453_454del" "r.(?)" "p.(Ser152TrpfsTer7)" "" "0000575956" "00024249" "50" "458" "0" "458" "0" "c.458G>T" "r.(?)" "p.(Gly153Val)" "" "0000575959" "00024249" "70" "877" "0" "877" "0" "c.877T>C" "r.(?)" "p.(Ser293Pro)" "" "0000575960" "00024249" "70" "950" "0" "950" "0" "c.950G>A" "r.(?)" "p.(Cys317Tyr)" "" "0000575961" "00024249" "30" "969" "0" "969" "0" "c.969T>C" "r.(?)" "p.(Thr323=)" "" "0000575962" "00024249" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Arg326Cys)" "" "0000575963" "00024249" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Pro386Ser)" "" "0000575964" "00024249" "70" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Pro386Ser)" "" "0000575965" "00024249" "50" "1492" "0" "1492" "0" "c.1492A>G" "r.(?)" "p.(Thr498Ala)" "" "0000575966" "00024249" "70" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Arg528Cys)" "" "0000575967" "00024249" "50" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000575968" "00024249" "90" "1597" "0" "1601" "0" "c.1597_1601dup" "r.(?)" "p.(Val535AspfsTer3)" "" "0000575971" "00024249" "50" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Tyr648Cys)" "" "0000619554" "00024249" "70" "584" "0" "584" "0" "c.584T>G" "r.(?)" "p.(Ile195Ser)" "" "0000619555" "00024249" "90" "865" "-1" "865" "-1" "c.865-1G>A" "r.spl?" "p.?" "" "0000619556" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000619557" "00024249" "70" "1330" "0" "1330" "0" "c.1330dup" "r.(?)" "p.(Thr444AsnfsTer21)" "" "0000619558" "00024249" "70" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Ter)" "" "0000624614" "00024249" "50" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Asp521Asn)" "" "0000624615" "00024249" "30" "1616" "-3" "1616" "-3" "c.1616-3T>C" "r.spl?" "p.?" "" "0000624899" "00024249" "70" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Pro167Ser)" "" "0000631922" "00024249" "90" "77" "0" "77" "0" "c.77del" "r.(?)" "p.(Asn26Ilefs*18)" "" "0000659297" "00024249" "90" "224" "0" "224" "0" "c.224dup" "r.(?)" "p.(Ser76Ter)" "" "0000659299" "00024249" "30" "1315" "5" "1315" "5" "c.1315+5C>T" "r.spl?" "p.?" "" "0000665312" "00024249" "70" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(Tyr525Cys)" "" "0000667195" "00024249" "70" "1315" "1" "1315" "1" "c.1315+1G>C" "r.spl" "p.?" "" "0000667468" "00024249" "90" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" "" "0000667469" "00024249" "90" "577" "0" "577" "0" "c.577G>T" "r.(?)" "p.(Gly193*)" "" "0000668645" "00024249" "70" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376His)" "" "0000668646" "00024249" "90" "1486" "0" "1486" "0" "c.1486G>A" "r.(?)" "p.(Val496Met)" "" "0000668647" "00024249" "90" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Pro568Ser)" "" "0000668666" "00024249" "90" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Lys)" "" "0000668667" "00024249" "90" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79Lys)" "" "0000674011" "00024249" "70" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603*)" "" "0000682431" "00024249" "90" "262" "0" "262" "0" "c.262del" "r.(?)" "p.(Arg88ValfsTer133)" "" "0000686211" "00024249" "70" "1150" "0" "1150" "0" "c.1150A>C" "r.(?)" "p.(Thr384Pro)" "" "0000704165" "00024249" "70" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Arg475Cys)" "" "0000704242" "00024249" "70" "600" "0" "601" "0" "c.600_601dup" "r.(?)" "p.(Thr201Ilefs*21)" "7" "0000728892" "00024249" "90" "1031" "0" "1031" "0" "c.1031T>A" "r.(?)" "p.(Leu344Ter)" "" "0000728893" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>G" "r.(?)" "p.(Arg376Gly)" "" "0000728894" "00024249" "50" "1457" "0" "1457" "0" "c.1457A>C" "r.(?)" "p.(Gln486Pro)" "" "0000728895" "00024249" "70" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488His)" "" "0000728896" "00024249" "50" "1565" "0" "1565" "0" "c.1565T>C" "r.(?)" "p.(Ile522Thr)" "" "0000728897" "00024249" "70" "1676" "0" "1676" "0" "c.1676T>A" "r.(?)" "p.(Leu559His)" "" "0000728898" "00024249" "90" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Ter)" "" "0000733985" "00024249" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "" "0000734648" "00024249" "50" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "" "0000788611" "00024249" "70" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "" "0000810380" "00024249" "90" "46" "-1" "46" "-1" "c.46-1G>A" "r.spl?" "p.?" "" "0000810381" "00024249" "30" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Ala33Val)" "" "0000810382" "00024249" "30" "252" "0" "252" "0" "c.252C>T" "r.(?)" "p.(Phe84=)" "" "0000810383" "00024249" "50" "491" "0" "491" "0" "c.491A>G" "r.(?)" "p.(Asp164Gly)" "" "0000810384" "00024249" "30" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Ser290=)" "" "0000810385" "00024249" "50" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Cys341=)" "" "0000810386" "00024249" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000810387" "00024249" "30" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Arg478=)" "" "0000817728" "00024249" "70" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Thr323Ala)" "" "0000817884" "00024249" "90" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Cys)" "" "0000841172" "00024249" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Pro167Ser)" "" "0000856606" "00024249" "50" "226" "0" "228" "0" "c.226_228del" "r.(?)" "p.(Ser76del)" "" "0000856607" "00024249" "30" "1191" "0" "1191" "0" "c.1191A>G" "r.(?)" "p.(Leu397=)" "" "0000867365" "00024249" "30" "369" "0" "369" "0" "c.369A>G" "r.(?)" "p.(Gly123=)" "" "0000867366" "00024249" "90" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292*)" "" "0000867367" "00024249" "50" "943" "0" "943" "0" "c.943C>A" "r.(?)" "p.(Arg315Ser)" "" "0000867368" "00024249" "50" "1026" "-7" "1026" "-6" "c.1026-7_1026-6del" "r.(=)" "p.(=)" "" "0000867369" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000867370" "00024249" "30" "1316" "-6" "1316" "-6" "c.1316-6C>T" "r.(=)" "p.(=)" "" "0000867371" "00024249" "70" "1535" "0" "1535" "0" "c.1535A>G" "r.(?)" "p.(His512Arg)" "" "0000874568" "00024249" "70" "1678" "0" "1680" "0" "c.1678_1680del" "r.(?)" "p.(Leu560del)" "" "0000881124" "00024249" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311*)" "" "0000896214" "00024249" "70" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ser269Phe)" "" "0000896215" "00024249" "90" "865" "-2" "865" "-2" "c.865-2A>G" "r.spl?" "p.?" "" "0000896216" "00024249" "90" "865" "-1" "865" "-1" "c.865-1G>C" "r.spl?" "p.?" "" "0000896217" "00024249" "50" "1126" "0" "1126" "0" "c.1126C>G" "r.(?)" "p.(Arg376Gly)" "" "0000896218" "00024249" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000896219" "00024249" "90" "1535" "0" "1536" "0" "c.1535_1536del" "r.(?)" "p.(His512Argfs*5)" "" "0000897211" "00024249" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376Cys)" "" "0000898139" "00024249" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Pro203Ser)" "" "0000918375" "00024249" "70" "1622" "0" "1622" "0" "c.1622C>T" "r.(?)" "p.(Ala541Val)" "" "0000920777" "00024249" "50" "1497" "5" "1498" "-47" "c.1497+5_1498-47del" "r.spl?" "p.?" "" "0000931414" "00024249" "30" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Arg287Gly)" "" "0000931415" "00024249" "90" "894" "0" "894" "0" "c.894C>A" "r.(?)" "p.(Cys298*)" "" "0000936420" "00024249" "70" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.(Arg534His)" "" "0000939892" "00024249" "70" "833" "0" "833" "0" "c.833dup" "r.(?)" "p.(Leu278PhefsTer17)" "9" "0000939893" "00024249" "70" "887" "0" "887" "0" "c.887G>C" "r.(?)" "p.(Arg296Pro)" "" "0000939894" "00024249" "70" "830" "0" "831" "0" "c.830_831del" "r.(?)" "p.(Glu277ValfsTer17)" "9" "0000951754" "00024249" "50" "206" "0" "206" "0" "c.206A>T" "r.(?)" "p.(Tyr69Phe)" "" "0000951755" "00024249" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311*)" "" "0000951756" "00024249" "70" "1315" "1" "1315" "1" "c.1315+1G>C" "r.spl?" "p.?" "" "0000960253" "00024249" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000971080" "00024249" "90" "1423" "0" "1423" "0" "c.1423C>G" "r.(?)" "p.(Arg475Gly)" "" "0000984681" "00024249" "30" "104" "-10" "104" "-10" "c.104-10A>T" "r.(=)" "p.(=)" "" "0000984682" "00024249" "70" "971" "0" "971" "0" "c.971C>A" "r.(?)" "p.(Pro324Gln)" "" "0000984683" "00024249" "30" "1316" "-5" "1316" "-5" "c.1316-5G>A" "r.spl?" "p.?" "" "0000987864" "00024249" "70" "122" "0" "124" "0" "c.122_124del" "r.(?)" "p.(Pro41del)" "3" "0001006753" "00024249" "30" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Thr49Ala)" "" "0001011151" "00024249" "70" "943" "0" "943" "0" "c.943C>A" "r.(?)" "p.(Arg315Ser)" "" "0001016593" "00024249" "70" "626" "0" "626" "0" "c.626A>T" "p.(?)" "p.(His209Leu)" "" "0001016595" "00024249" "70" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Phe)" "" "0001016596" "00024249" "50" "1383" "0" "1383" "0" "c.1383A>T" "r.(?)" "p.(Leu461Phe)" "" "0001016597" "00024249" "50" "1450" "0" "1450" "0" "c.1450C>G" "r.(?)" "p.(Leu484Val)" "" "0001016599" "00024249" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Cys)" "" "0001016601" "00024249" "50" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Pro568Ala)" "" "0001016602" "00024249" "50" "1910" "-15" "1910" "-2" "c.1910-15_1910-2del" "r.spl?" "p.?" "" "0001016603" "00024249" "50" "1910" "-2" "1910" "-2" "c.1910-2A>G" "r.spl" "p.?" "" "0001021171" "00024249" "70" "454" "0" "454" "0" "c.454dup" "r.?" "p.(Ser152Phefs*8)" "6" "0001022146" "00024249" "70" "1023" "0" "1023" "0" "c.1023C>T" "r.[1022_1025del,=]" "p.[Cys341TyrfsTer5,Cys341=]" "10" "0001029734" "00024249" "90" "1616" "-12" "1621" "0" "c.1616-12_1621del" "r.1616_1769del" "p.Gly539Valfs*79" "14i_15" "0001030098" "00024249" "70" "1635" "0" "1635" "0" "c.1635dup" "r.(?)" "p.(Asn546*)" "15" "0001030935" "00024249" "70" "1441" "0" "1442" "0" "c.1441_1442dup" "r.(?)" "p.(Glu482Lysfs*15)" "13" "0001044328" "00024249" "30" "234" "0" "234" "0" "c.234A>T" "r.(?)" "p.(=)" "" "0001044329" "00024249" "30" "247" "0" "247" "0" "c.247A>G" "r.(?)" "p.(Ser83Gly)" "" "0001044330" "00024249" "30" "1315" "297" "1315" "297" "c.1315+297T>G" "r.(=)" "p.(=)" "" "0001047539" "00024249" "70" "1244" "0" "1244" "0" "c.1244T>C" "r.(1244T>C)" "p.(Ile415Thr)" "12" "0001048391" "00024249" "70" "1315" "1" "1315" "1" "c.1315+1G>T" "r.(?)" "p.(?)" "" "0001057311" "00024249" "50" "-351" "0" "-351" "0" "c.-351G>A" "r.(?)" "p.(=)" "" "0001057312" "00024249" "90" "454" "0" "454" "0" "c.454dup" "r.(?)" "p.(Ser152Phefs*8)" "" "0001057313" "00024249" "30" "1584" "0" "1584" "0" "c.1584T>C" "r.(?)" "p.(=)" "" "0001057314" "00024249" "90" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Pro568Leu)" "" "0001061954" "00024249" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Asp347Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 98 "{{screeningid}}" "{{variantid}}" "0000000210" "0000010896" "0000050317" "0000079297" "0000050328" "0000079308" "0000050512" "0000079492" "0000050547" "0000079527" "0000104336" "0000169016" "0000104337" "0000169017" "0000104361" "0000169041" "0000152275" "0000336337" "0000165576" "0000369301" "0000173279" "0000393136" "0000220171" "0000455089" "0000220172" "0000455090" "0000220173" "0000455091" "0000220207" "0000455159" "0000220208" "0000455160" "0000220209" "0000455161" "0000220210" "0000455162" "0000220211" "0000455163" "0000220212" "0000455164" "0000220213" "0000455165" "0000220214" "0000455166" "0000220215" "0000455167" "0000220216" "0000455168" "0000220217" "0000455169" "0000220218" "0000455170" "0000220219" "0000455171" "0000220220" "0000455172" "0000220221" "0000455173" "0000220222" "0000455174" "0000220223" "0000455175" "0000220224" "0000455176" "0000220225" "0000455177" "0000220226" "0000455178" "0000220227" "0000455179" "0000220228" "0000455180" "0000220229" "0000455181" "0000220230" "0000455182" "0000220231" "0000455183" "0000220232" "0000455184" "0000220233" "0000455185" "0000220234" "0000455186" "0000220235" "0000455187" "0000220236" "0000455188" "0000220237" "0000455189" "0000220238" "0000455190" "0000220239" "0000455191" "0000220240" "0000455192" "0000220241" "0000455193" "0000220242" "0000455194" "0000220243" "0000455195" "0000271051" "0000624899" "0000277178" "0000631922" "0000302201" "0000665312" "0000303800" "0000667195" "0000304070" "0000667468" "0000304071" "0000667469" "0000305080" "0000668645" "0000305081" "0000668646" "0000305084" "0000668647" "0000305104" "0000668666" "0000305105" "0000668667" "0000307388" "0000674011" "0000311035" "0000686211" "0000321336" "0000704165" "0000321401" "0000704242" "0000335527" "0000733985" "0000335772" "0000734648" "0000376715" "0000788611" "0000388935" "0000817728" "0000389091" "0000817884" "0000405111" "0000841172" "0000416467" "0000874568" "0000420765" "0000881124" "0000422259" "0000897211" "0000422885" "0000898139" "0000434881" "0000920777" "0000440128" "0000936420" "0000441950" "0000939892" "0000441951" "0000939893" "0000441952" "0000939894" "0000449770" "0000960253" "0000453285" "0000987864" "0000454735" "0001011151" "0000458944" "0001016593" "0000458945" "0001016595" "0000458946" "0001016596" "0000458947" "0001016597" "0000458948" "0001016599" "0000458949" "0001016601" "0000458950" "0001016602" "0000458951" "0001016603" "0000461810" "0001021171" "0000462619" "0001022146" "0000465947" "0001029734" "0000466198" "0001030098" "0000466897" "0001030935" "0000468070" "0001047539"