### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XK) # 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}}" "XK" "X-linked Kx blood group (McLeod syndrome)" "X" "p21.1" "unknown" "NC_000023.10" "UD_132084432381" "" "https://www.LOVD.nl/XK" "" "1" "12811" "7504" "314850" "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/XK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2025-01-29 11:50:48" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022914" "XK" "X-linked Kx blood group (McLeod syndrome)" "001" "NM_021083.2" "" "NP_066569.1" "" "" "" "-82" "5003" "1335" "37545133" "37591383" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "02190" "MCLDS" "McLeod syndrome (neuroacanthocytosis)" "XL" "300842" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-13 10:22:25" "02236" "CGDX" "granulomatous disease, chronic, X-linked" "XLR" "306400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-07-29 11:34:06" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "XK" "02190" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00143754" "" "" "" "1" "" "00006" "{PMID:Oshima 2009:19449031}" "familial case, carrier mother" "M" "" "United States" "" "0" "" "" "" "19449031-PatCo3" "00143803" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "carrier mother" "M" "" "Japan" "" "0" "" "" "" "22383943-Pat3" "00143804" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "mother not a carrier" "M" "" "Japan" "" "0" "" "" "" "22383943-Pat4" "00143805" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "carrier mother" "F" "" "Japan" "" "0" "" "" "" "22383943-Pat5" "00172885" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00431390" "" "" "" "1" "" "00006" "{PMID:Bi 2023:36712874}" "2-generation family, 1 affected, unaffected carrier mother/sister" "M" "" "China" "00y03m" "0" "" "" "" "patient" "00431392" "" "" "" "2" "" "00006" "{PMID:Peng 2007:17300882}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Pat1" "00431393" "" "" "" "1" "" "00006" "{PMID:Peng 2007:17300882}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Pat2" "00431540" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "2-generation family, 1 affected, heterozygous carrier mother" "M" "" "Japan" "" "0" "" "" "" "Pat3" "00431543" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "family, 1 affected" "M" "" "Japan" "" "0" "" "" "" "Pat4" "00431544" "" "" "" "1" "" "00006" "{PMID:Arai 2012:22383943}" "2-generation family, 1 affected, heterozygous carrier mother" "M" "" "Japan" "" "0" "" "" "" "Pat5(A1445)" "00431549" "" "" "" "1" "" "00006" "{PMID:Yamada 2010:20813210}" "" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00431550" "" "" "" "2" "" "00006" "{PMID:Yamada 2010:20813210}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "Japan" "" "0" "" "" "" "Pat2" "00431976" "" "" "" "1" "" "00006" "{PMID:Xu 2014:24943880}, {PMID:Wu 2017:28251166}" "patient" "M" "" "China" "" "0" "" "" "" "Pat23(A1446)" "00432819" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "" "M" "" "China" "" "0" "" "" "" "Pat100" "00432820" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "Pat101" "00433024" "" "" "" "1" "" "00006" "{PMID:Martel 2012:22562447}" "2-generation family, non-carrier mother" "M" "" "France" "" "0" "" "" "" "Pat20" "00433025" "" "" "" "1" "" "00006" "{PMID:Martel 2012:22562447}" "2-generation family, heterozygous carrier mother" "M" "" "France" "" "0" "" "" "" "Pat21" "00437160" "" "" "" "1" "" "00006" "{PMID:Kekou 2023:37754746}" "contiguous gene syndrome" "M" "" "Greece" "" "0" "" "" "" "D687" "00460680" "" "" "" "1" "" "00006" "{PMID:Blackstone 2025:39749981}" "3-generation family, 6 affected (6M), 2 unaffected carrier females" "M" "" "United States" "12y" "0" "" "" "" "family" "00460867" "" "" "" "1" "" "00006" "{PMID:Danek 1990:2260862}, {PMID:Witt 1992:1512605}, {PMID:Danek 2001:11746618}, {PMID:Danek 1994:8290045}, {PMID:Oechsner 2001: 11254778}, {PMID:Danek 2001:11761473}" "" "M" "" "Germany" "" "0" "" "" "" "Pat1;Pat1;Pat1;Pat1;Pat1;Pat17" "00460868" "" "" "" "2" "" "00006" "{PMID:Bertelson 1988:3358422}, {PMID:Danek 2001:11761473}" "family, 2 affected brothers" "M" "" "" "" "0" "" "" "" "Pat2;FamPat5" "00460869" "" "" "00460868" "1" "" "00006" "{PMID:Bertelson 1988:3358422}, {PMID:Danek 2001:11761473}" "brother" "M" "" "" "" "0" "" "" "" "Pat1;FamPat6" "00460870" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat13" "00460871" "" "" "" "1" "" "00006" "{PMID:Hardie 1991:1998879}, {PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "PatLIII4;Pat2" "00460872" "" "" "" "1" "" "00006" "{PMID:Oechsner 2001:11254778}, {PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat2;Pat6;Pat1" "00460873" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat20" "00460874" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00460875" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat21" "00460876" "" "" "" "3" "" "00006" "{PMID:Malandrini 1994:7931427}, {PMID:Danek 2001:11761473}" "family, 3 affected (3M)" "M" "" "" "" "0" "" "" "" "PatiIII8;Pat14" "00460877" "" "" "" "1" "" "00006" "{PMID:Dotti 2000:11104227}, {PMID:Danek 2001:11761473}" "" "M" "" "Italy" "" "0" "" "" "" "patient;Pat15" "00460878" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat23" "00460879" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat18" "00460880" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat19" "00460881" "" "" "" "1" "" "00006" "{PMID:Swash 1983:6685553}, {PMID:Carter 1990:2193159}, {PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "PatFD9" "00460882" "" "" "" "2" "" "00006" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "family, 2 affected brothers" "M" "" "" "" "0" "" "" "" "Pat4;FamPat9" "00460883" "" "" "00460882" "1" "" "00006" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "brother" "M" "" "" "" "0" "" "" "" "Pat5;FamPat10" "00460884" "" "" "" "1" "" "00006" "{PMID:Swash 1983:6685553}, {PMID:Carter 1990:2193159}, {PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "PatED9" "00460885" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat11" "00460886" "" "" "" "1" "" "00006" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "" "M" "" "" "" "0" "" "" "" "Pat3;Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00143803" "05349" "00143804" "05349" "00143805" "05349" "00172885" "00187" "00431390" "00198" "00431392" "02190" "00431393" "05349" "00431540" "02236" "00431543" "02236" "00431544" "02236" "00431549" "00198" "00431550" "02236" "00431976" "05349" "00432819" "05349" "00432820" "05349" "00433024" "05349" "00433025" "05349" "00437160" "02190" "00437160" "05349" "00437160" "05378" "00460680" "05121" "00460867" "02190" "00460868" "02190" "00460869" "02190" "00460870" "02190" "00460871" "02190" "00460872" "02190" "00460873" "02190" "00460874" "02190" "00460875" "02190" "00460876" "02190" "00460877" "02190" "00460878" "02190" "00460879" "02190" "00460880" "02190" "00460881" "02190" "00460882" "02190" "00460883" "02190" "00460884" "02190" "00460885" "02190" "00460886" "02190" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 02190, 02236, 05121, 05349, 05378 ## Count = 37 "{{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}}" "0000116524" "05324" "00143754" "00006" "Familial, X-linked recessive" "" "male fetus" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, Duchenne type (DMD)" "" "0000116581" "05349" "00143803" "00006" "Familial, X-linked" "" "reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK" "" "" "" "" "" "" "" "" "" "" "" "" "0000116582" "05349" "00143804" "00006" "Familial, X-linked recessive" "" "reduced expression of erythrocyte Kell blood group antigen, acanthocytosis, high serum CPK" "" "" "" "" "" "" "" "" "" "" "" "" "0000116583" "05349" "00143805" "00006" "Unknown" "" "history of\r\nincreased susceptibility to infection at the clinical diagnosis CGD; 11y-increased susceptibility to infection, marked\r\nreduction in ROS productivity (0.05)" "" "" "" "" "" "" "" "" "" "" "" "" "0000137749" "00187" "00172885" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000321984" "00198" "00431390" "00006" "Familial, X-linked recessive" "00y03m" "see paper; ..., 3m-deceased (fulminant infection); 41w+1 birth Cesarean section macrosomia; 19d neonatal sepsis, soft/flat anterior fontanelle, mild tachypnea, clear air entry, heart rate 145 beats/min, no hepatosplenomegaly, full range motion four limbs, normoactive bowel sound; raised CK level, decreased gp91 expression, positive nitroblue tetrazolium test" "" "" "" "" "" "" "" "" "" "CGD;DMD" "" "" "0000321987" "02190" "00431392" "00006" "Familial, X-linked recessive" "56y" "see paper; ..., 30y-acanthocytosis, McLeod Kell phenotype; 50y-problems walking, leg weakness; 55y-seizure; 56y-occasional auras, tongue biting, bruxism, leg restlessness, memory problems, very mild leg chorea, speech mildly dysarthric, power/tone diminished throughout, deep tendon reflexes absent" "" "" "" "" "" "" "" "" "" "MCLDS" "acanthocytosis" "" "0000321988" "05349" "00431393" "00006" "Familial, X-linked recessive" "00y23m" "see paper; ..., 4m-seizure-like activity requiring hospitalization, skin infection groin, mpetigo; mild elevation transaminases, hepatosplenomegaly; chronic granulomatous disease" "00y04m" "" "" "" "" "" "" "" "" "CGB" "chronic granulomatous disease" "" "0000322125" "00198" "00431549" "00006" "Isolated (sporadic)" "08y" "36h-generalized seizure resulting in cardiac arrest; high blood ammonia; liver biopsy elevated urine orotic acid, markedly reduced OTC activity; recurrent perianal abscesses, infancy lymphadenitis, 3y-pelvic abscess; acanthocytosis; no retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "OTCD;MCLDS;CGDX" "seizure" "" "0000322126" "02236" "00431550" "00006" "Familial, X-linked recessive" "20y" "recurrent perianal abscesses and pneumonia, chronic granulomatous disease; brother died from Pseudomonas aeruginosa septicemia" "" "" "" "" "" "" "" "" "" "MCLDS;CGDX" "chronic granulomatous disease" "" "0000322544" "05349" "00431976" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "CGDX;MCLDS" "chronic granulomatous diseas" "" "0000323381" "05349" "00432819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CGDX;MCLDS" "chronic granulomatous disease" "" "0000323382" "05349" "00432820" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "CGDX;MCLDS" "chronic granulomatous disease" "" "0000323556" "05349" "00433024" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CGDX;MCLDS" "chronic granulomatous disease" "" "0000323557" "05349" "00433025" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "CGDX;MCLDS" "chronic granulomatous disease" "" "0000327071" "05378" "00437160" "00006" "Unknown" "00y02m" "chronic granulomatous disease, elevated CK (15,000 IU/L)" "" "" "" "" "" "" "" "" "" "DMD;CGD;MCLDS" "dystrophinopathy" "" "0000348361" "05121" "00460680" "00006" "Familial, X-linked" "12y" "see paper; ..., 12y-deceased (cardiac arrest); gross motor delays, raised creatine kinase level; unusually rapid progression dilated cardiomyopathy" "" "" "02y" "" "" "" "" "" "" "DMD;MCLDS" "" "" "0000348546" "02190" "00460867" "00006" "Unknown" "62y" "see paper; ..., 62y-deceased, acanthocytosisatrial fibrillation" "40y" "" "" "" "" "" "" "" "" "" "atrial fibrillation" "" "0000348547" "02190" "00460868" "00006" "Familial, X-linked recessive" "39y" "see paper; ..., acanthocytosis, Kell antigen McLeod phenotype" "32y" "" "" "" "" "" "" "" "" "" "Kell antigen McLeod phenotype" "" "0000348548" "02190" "00460869" "00006" "Familial, X-linked recessive" "44y" "see paper; ..., acanthocytosis, Kell antigen McLeod phenotype" "37y" "" "" "" "" "" "" "" "" "" "Kell antigen McLeod phenotype" "" "0000348549" "02190" "00460870" "00006" "Unknown" "54y" "see paper; ..., acanthocytosis, splenomegaly" "21y" "" "" "" "" "" "" "" "" "" "splenomegaly" "" "0000348550" "02190" "00460871" "00006" "Unknown" "27y" "see paper; ..., acanthocytosis, movement disorder, family investigation" "27y" "" "" "" "" "" "" "" "" "" "movement disorder, family investigation" "" "0000348551" "02190" "00460872" "00006" "Unknown" "30y" "see paper; ..., acanthocytosis, muscle fatigue" "26y" "" "" "" "" "" "" "" "" "" "muscle fatigue" "" "0000348552" "02190" "00460873" "00006" "Unknown" "72y" "see paper; ..., acanthocytosis, seizure" "44y" "" "" "" "" "" "" "" "" "" "seizure" "" "0000348553" "02190" "00460874" "00006" "Unknown" "72y" "see paper; ..., acanthocytosis, seizure" "49y" "" "" "" "" "" "" "" "" "" "seizure" "" "0000348554" "02190" "00460875" "00006" "Unknown" "65y" "see paper; ..., acanthocytosis, Kell antigen McLeod phenotype" "26y" "" "" "" "" "" "" "" "" "" "Kell antigen McLeod phenotype" "" "0000348555" "02190" "00460876" "00006" "Familial, X-linked recessive" "55y" "see paper; ..., 55y-deceased, acanthocytosis, movement disorder, depression" "37y" "" "" "" "" "" "" "" "" "" "movement disorder, depression" "" "0000348556" "02190" "00460877" "00006" "Unknown" "56y" "see paper; ..., 56y-deceased, acanthocytosis, movement disorder" "42y" "" "" "" "" "" "" "" "" "" "movement disorder" "" "0000348557" "02190" "00460878" "00006" "Unknown" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "0000348558" "02190" "00460879" "00006" "Unknown" "59y" "see paper; ..., acanthocytosis, movement disorder" "57y" "" "" "" "" "" "" "" "" "" "movement disorder" "" "0000348559" "02190" "00460880" "00006" "Unknown" "61y" "see paper; ..., acanthocytosis, seizure, movement disorder" "61y" "" "" "" "" "" "" "" "" "" "seizure, movement disorder" "" "0000348560" "02190" "00460881" "00006" "Unknown" "48y" "see paper; ..., Kell antigen McLeod phenotype" "48y" "" "" "" "" "" "" "" "" "" "Kell antigen McLeod phenotype" "" "0000348561" "02190" "00460882" "00006" "Familial, X-linked recessive" "44y" "see paper; ..., acanthocytosis, muscle fatigue, movement disorder" "42y" "" "" "" "" "" "" "" "" "" "muscle fatigue, movement disorder" "" "0000348562" "02190" "00460883" "00006" "Familial, X-linked recessive" "45y" "see paper; ..., acanthocytosis, family investigation" "45y" "" "" "" "" "" "" "" "" "" "family investigation" "" "0000348563" "02190" "00460884" "00006" "Unknown" "37y" "see paper; ..., Kell antigen McLeod phenotype" "37y" "" "" "" "" "" "" "" "" "" "Kell antigen McLeod phenotype" "" "0000348564" "02190" "00460885" "00006" "Unknown" "47y" "see paper; ..., acanthocytosis, movement disorder" "37y" "" "" "" "" "" "" "" "" "" "movement disorder" "" "0000348565" "02190" "00460886" "00006" "Unknown" "54y" "see paper; ..., acanthocytosis, disruptive behavior, movement disorder" "51y" "" "" "" "" "" "" "" "" "" "disruptive behavior, movement disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000144612" "00143754" "1" "00006" "00006" "2017-12-04 21:03:35" "" "" "arrayCGH;MLPA;Southern" "DNA" "" "" "0000144662" "00143803" "1" "00006" "00006" "2017-12-06 21:07:36" "" "" "arrayCGH" "DNA" "" "" "0000144663" "00143804" "1" "00006" "00006" "2017-12-06 21:11:21" "" "" "arrayCGH" "DNA" "" "" "0000144664" "00143805" "1" "00006" "00006" "2017-12-06 21:17:02" "" "" "arrayCGH" "DNA" "" "" "0000173768" "00172885" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000432804" "00431390" "1" "00006" "00006" "2023-02-11 21:40:32" "" "" "SEQ-NG" "DNA" "" "CNVseq" "0000432806" "00431392" "1" "00006" "00006" "2023-02-12 11:31:03" "" "" "PCR;SEQ" "DNA" "" "" "0000432807" "00431393" "1" "00006" "00006" "2023-02-12 11:44:23" "" "" "PCR;SEQ" "DNA" "" "" "0000432965" "00431540" "1" "00006" "00006" "2023-02-14 15:43:54" "" "" "arrayCGH" "DNA" "" "" "0000432968" "00431543" "1" "00006" "00006" "2023-02-14 15:50:28" "" "" "arrayCGH" "DNA" "" "" "0000432969" "00431544" "1" "00006" "00006" "2023-02-14 15:56:47" "00006" "2023-02-14 15:59:54" "arrayCGH" "DNA" "" "" "0000432974" "00431549" "1" "00006" "00006" "2023-02-14 16:24:12" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000432975" "00431550" "1" "00006" "00006" "2023-02-14 16:46:15" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000433416" "00431976" "1" "00006" "00006" "2023-02-18 09:13:38" "" "" "SEQ;PCR" "DNA" "" "" "0000434261" "00432819" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434262" "00432820" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434453" "00433024" "1" "00006" "00006" "2023-02-28 09:43:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000434454" "00433025" "1" "00006" "00006" "2023-02-28 09:43:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000438644" "00437160" "1" "00006" "00006" "2023-10-13 09:23:56" "00006" "2023-10-13 10:47:22" "arrayCGH;MLPA" "DNA" "" "" "0000462312" "00460680" "1" "00006" "00006" "2025-01-29 11:51:46" "" "" "arrayMET" "DNA" "" "" "0000462499" "00460867" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "PCR;SEQ" "DNA" "" "" "0000462500" "00460868" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "PCR;SEQ" "DNA" "" "" "0000462501" "00460869" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "PCR;SEQ" "DNA" "" "" "0000462502" "00460870" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "PCR;SEQ" "DNA" "" "" "0000462503" "00460871" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462504" "00460872" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462505" "00460873" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462506" "00460874" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462507" "00460875" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462508" "00460876" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462509" "00460877" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462510" "00460878" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462511" "00460879" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462512" "00460880" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462513" "00460881" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462514" "00460882" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462515" "00460883" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462516" "00460884" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462517" "00460885" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" "0000462518" "00460886" "1" "00006" "00006" "2025-01-30 10:12:45" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000144612" "DMD" "0000144662" "CYBB" "0000144663" "CYBB" "0000144664" "CYBB" "0000173768" "NXF3" "0000432806" "XK" "0000432965" "CYBB" "0000432965" "XK" "0000432968" "CYBB" "0000432968" "XK" "0000432969" "CYBB" "0000432969" "DMD" "0000432969" "XK" "0000433416" "CYBB" "0000434261" "CYBB" "0000434262" "CYBB" "0000434453" "CYBB" "0000434454" "CYBB" "0000438644" "DMD" "0000462312" "DMD" "0000462312" "XK" "0000462499" "XK" "0000462500" "XK" "0000462501" "XK" "0000462502" "XK" "0000462503" "XK" "0000462504" "XK" "0000462505" "XK" "0000462506" "XK" "0000462507" "XK" "0000462508" "XK" "0000462509" "XK" "0000462510" "XK" "0000462511" "XK" "0000462512" "XK" "0000462513" "XK" "0000462514" "XK" "0000462515" "XK" "0000462516" "XK" "0000462517" "XK" "0000462518" "XK" ## 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 = 58 "{{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}}" "0000235414" "21" "50" "X" "37519019" "37704713" "dup" "0" "00006" "CYBB_000004" "g.(36868901_37519019)_(37704713_38023983)dup" "" "{PMID:Oshima 2009:19449031}" "" "hg18 g.(36778822_37403938)_(37589657_37908927)dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000235488" "21" "90" "X" "37372104" "37965797" "del" "0" "00006" "CYBB_000007" "g.(37372045_37372104)_(37965797_37965856)del" "" "{PMID:Arai 2012:22383943}" "" "" "593.8 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000235489" "0" "90" "X" "35839433" "37787250" "del" "0" "00006" "CYBB_000007" "g.(35839374_35839433)_(37787250_37787309)del" "" "{PMID:Arai 2012:22383943}" "" "" "1944.5 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000235490" "21" "90" "X" "32407789" "38122529" "del" "0" "00006" "DMD_042217" "g.(32407730_32407789)_(38122529_38122588)del" "" "{PMID:Arai 2012:22383943}" "" "" "5711.4 kb deletion" "Germline" "" "" "0" "" "46,X,del(X)(p21.1p21.2" "" "" "pathogenic (recessive)" "" "0000320052" "0" "30" "X" "37587647" "37587647" "subst" "0" "01943" "XK_000006" "g.37587647C>T" "" "" "" "XK(NM_021083.4):c.1267C>T (p.P423S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37728394C>T" "" "likely benign" "" "0000320053" "0" "50" "X" "37553726" "37553726" "subst" "0" "01943" "XK_000003" "g.37553726T>G" "" "" "" "XK(NM_021083.4):c.433T>G (p.F145V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37694473T>G" "" "VUS" "" "0000320054" "0" "30" "X" "37553805" "37553805" "subst" "9.59828E-5" "01943" "XK_000004" "g.37553805C>T" "" "" "" "XK(NM_021083.4):c.508+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37694552C>T" "" "likely benign" "" "0000320055" "0" "30" "X" "37545265" "37545265" "subst" "1.21325E-5" "01943" "XK_000001" "g.37545265G>A" "" "" "" "XK(NM_021083.4):c.51G>A (p.E17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37686012G>A" "" "likely benign" "" "0000333726" "0" "50" "X" "37587515" "37587515" "subst" "0" "01804" "XK_000005" "g.37587515C>T" "" "" "" "XK(NM_021083.2):c.1135C>T (p.(Leu379Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37728262C>T" "" "VUS" "" "0000394007" "1" "50" "X" "37587252" "37587252" "subst" "0" "00124" "XK_000007" "g.37587252A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N291S" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.37727999A>G" "" "VUS" "" "0000575795" "0" "50" "X" "37553706" "37553706" "subst" "0" "02327" "XK_000008" "g.37553706G>A" "" "" "" "XK(NM_021083.4):c.413G>A (p.(Arg138Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37694453G>A" "" "VUS" "" "0000575796" "0" "10" "X" "37587488" "37587488" "subst" "0.00207485" "01943" "XK_000009" "g.37587488T>G" "" "" "" "XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37728235T>G" "" "benign" "" "0000575797" "0" "30" "X" "37587488" "37587488" "subst" "0.00207485" "01804" "XK_000009" "g.37587488T>G" "" "" "" "XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37728235T>G" "" "likely benign" "" "0000624598" "0" "30" "X" "37545271" "37545271" "subst" "0.000127157" "01943" "XK_000010" "g.37545271G>C" "" "" "" "XK(NM_021083.4):c.57G>C (p.T19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37686018G>C" "" "likely benign" "" "0000682404" "0" "30" "X" "37553785" "37553785" "subst" "0" "01943" "XK_000012" "g.37553785C>T" "" "" "" "XK(NM_021083.4):c.492C>T (p.D164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682405" "0" "30" "X" "37587601" "37587601" "subst" "0.000107376" "01943" "XK_000013" "g.37587601G>A" "" "" "" "XK(NM_021083.4):c.1221G>A (p.P407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693573" "0" "50" "X" "37587450" "37587450" "subst" "5.6073E-6" "01943" "XK_000014" "g.37587450T>C" "" "" "" "XK(NM_021083.4):c.1070T>C (p.I357T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728857" "0" "50" "X" "37587609" "37587609" "subst" "5.65189E-6" "02329" "XK_000011" "g.37587609A>C" "" "" "" "XK(NM_021083.4):c.1229A>C (p.K410T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000874761" "0" "50" "X" "37587692" "37587692" "subst" "0" "03779" "XK_000015" "g.37587692G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000896176" "0" "10" "X" "37587488" "37587488" "subst" "0.00207485" "02326" "XK_000009" "g.37587488T>G" "" "" "" "XK(NM_021083.4):c.1108T>G (p.Y370D, p.(Tyr370Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000918419" "21" "90" "X" "30577566" "38080045" "del" "0" "00006" "CYBB_000005" "g.(30300000_30577566)_(38080045_38200000)del" "" "{PMID:Bi 2023:36712874}" "" "hg19 30577566-38080045del" "7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918421" "21" "90" "X" "36808321" "37585424" "del" "0" "00006" "XK_000016" "g.36808321_37585424del" "" "{PMID:Peng 2007:17300882}" "" "" "1.12Mb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918422" "21" "90" "X" "31683517" "37789444" "del" "0" "00006" "CYBB_000005" "g.31683517_37789444del" "" "{PMID:Peng 2007:17300882}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918588" "21" "90" "X" "37372104" "37965797" "del" "0" "00006" "CYBB_000005" "g.(37372045_37372104)_(37965797_37965856)del" "" "{PMID:Arai 2012:22383943}" "" "hg17 g.(37128233_37128292)_(37722014_37722073)del" "593.8kb deletion incl. XK, CYBB, DYNLT3" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918591" "0" "90" "X" "35839433" "37787250" "del" "0" "00006" "CYBB_000005" "g.(35839374_35839433)_(37787250_37787309)del" "" "{PMID:Arai 2012:22383943}" "" "hg17 chrX:g.(35599031_35599090)_(37543467_37543526)del" "1944.5kb deletion incl. XK, CYBB, DYNLT3; mother not avaliable" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918592" "21" "90" "X" "32407789" "38122529" "del" "0" "00006" "CYBB_000005" "g.(32407730_32407789)_(38122529_38122588)del" "" "{PMID:Arai 2012:22383943}" "" "hg17 g.(32167387_32167446)_(37878746_37878805)del" "5711.4kb deletion incl. DMD, XK, CYBB, DYNLT3" "Germline" "" "" "0" "markedly skewed X-inactivation (nromal chromosome inactive)" "" "" "" "pathogenic (recessive)" "" "0000918597" "0" "90" "X" "35409236" "38899055" "del" "0" "00006" "CYBB_000481" "g.35409236_38899055del" "" "{PMID:Yamada 2010:20813210}" "" "hg17 35168893-38655271del" "deletion incl. XK, CYBB, RPGR, OTC, TSPAN7" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000918599" "21" "90" "X" "37015744" "37854516" "delins" "0" "00006" "CYBB_000005" "g.37015744_37854516delins37007623_37007658" "" "{PMID:Yamada 2010:20813210}" "" "hg17 36775400-37610734delins36" "deletion incl. XK, CYBB; insertionTGGAGCAAGGTAACTGGAATGTCCTGCTAGCTTCCC" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000919064" "0" "90" "X" "37545133" "37706889" "del" "0" "00006" "CYBB_000005" "g.(?_37545133)_(37706889_?)del" "" "{PMID:Xu 2014:24943880}, {PMID:Wu 2017:28251166}" "" "del gene" "deletion incl. XK, CYBB, DYNLT3" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_37685880)_(37847636_?)del" "" "pathogenic (recessive)" "" "0000919936" "0" "90" "X" "37545133" "37672714" "del" "0" "00006" "CYBB_000005" "g.(?_37545133)_(37672714_?)del" "" "{PMID:Gao 2019:30716179}" "" "del ex 1-13" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_37685880)_(37813461_?)del" "" "pathogenic (recessive)" "" "0000919937" "21" "90" "X" "37545133" "37672714" "del" "0" "00006" "CYBB_000005" "g.(?_37545133)_(37672714_?)del" "" "{PMID:Gao 2019:30716179}" "" "del ex 1-13" "" "Germline" "" "" "0" "" "" "g.(?_37685880)_(37813461_?)del" "" "pathogenic (recessive)" "" "0000920210" "0" "90" "X" "37545133" "37672714" "del" "0" "00006" "XK_000018" "g.(?_37545133)_(37672714_?)del" "" "{PMID:Martel 2012:22562447}" "" "del CYBB, XK" "210kb deletion" "De novo" "" "" "0" "" "" "g.(?_37685880)_(37813461_?)del" "" "pathogenic (recessive)" "" "0000920211" "21" "90" "X" "37545133" "37672714" "del" "0" "00006" "XK_000018" "g.(?_37545133)_(37672714_?)del" "" "{PMID:Martel 2012:22562447}" "" "del CYBB, XK" "1.3Mb deletion" "Germline" "" "" "0" "" "" "g.(?_37685880)_(37813461_?)del" "" "pathogenic (recessive)" "" "0000931401" "0" "30" "X" "37553805" "37553805" "subst" "9.59828E-5" "02325" "XK_000004" "g.37553805C>T" "" "" "" "XK(NM_021083.4):c.508+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000934347" "0" "90" "X" "31138513" "37672714" "del" "0" "00006" "DMD_010179" "g.(?_31138513)_(37672714_?)del" "" "{PMID:Kekou 2023:37754746}" "" "del DMD gene" "5.5Mb Xp21.1-p11.4 deletion incl. DMD, XK, CYBB" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_31120396)_(37813461_?)del" "" "pathogenic (recessive)" "" "0000971054" "0" "30" "X" "37587556" "37587556" "subst" "0" "02326" "XK_000017" "g.37587556C>G" "" "" "" "XK(NM_021083.4):c.1176C>G (p.L392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984655" "0" "50" "X" "37553706" "37553706" "subst" "0" "01804" "XK_000008" "g.37553706G>A" "" "" "" "XK(NM_021083.4):c.413G>A (p.(Arg138Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021830" "21" "90" "X" "31137345" "37591383" "del" "0" "00006" "DMD_069069" "g.(?_31137345)_(37591383_?)del" "" "{PMID:Blackstone 2025:39749981}" "" "" "6.8 Mb deletion incl. DMD and XK" "Germline" "yes" "" "0" "" "" "g.(?_31119228)_(37732130_?)del" "" "pathogenic" "" "0001022024" "0" "90" "X" "37545133" "37591383" "del" "0" "00006" "XK_000021" "g.(?_37545133)_(37591383_?)del" "" "{PMID:Danek 1990:2260862}, {PMID:Witt 1992:1512605}, {PMID:Danek 2001:11746618}, {PMID:Danek 1994:8290045}, {PMID:Oechsner 2001: 11254778}, {PMID:Danek 2001:11761473}" "" "del XK gene 50kb" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_37685880)_(37732130_?)del" "" "pathogenic (recessive)" "" "0001022025" "21" "90" "X" "37545015" "37545460" "del" "0" "00006" "XK_000019" "g.(?_37545015)_(37545460_37553538)del" "" "{PMID:Bertelson 1988:3358422}, {PMID:Danek 2001:11761473}" "" "del Prom-ex1" "" "Germline" "yes" "" "0" "" "" "g.(?_37685762)_(37686207_37694285)del" "" "pathogenic (recessive)" "" "0001022026" "21" "90" "X" "37545015" "37545460" "del" "0" "00006" "XK_000019" "g.(?_37545015)_(37545460_37553538)del" "" "{PMID:Bertelson 1988:3358422}, {PMID:Danek 2001:11761473}" "" "del Prom-ex1" "" "Germline" "yes" "" "0" "" "" "g.(?_37685762)_(37686207_37694285)del" "" "pathogenic (recessive)" "" "0001022027" "0" "90" "X" "37545133" "37545133" "del" "0" "00006" "XK_000020" "g.(?_37545133)_(37545133_37553538)del" "" "{PMID:Danek 2001:11761473}" "" "del ex1" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_37685880)_(37685880_37694285)del" "" "pathogenic (recessive)" "" "0001022028" "0" "90" "X" "37553561" "37553561" "del" "0" "00006" "XK_000025" "g.37553561del" "" "{PMID:Hardie 1991:1998879}, {PMID:Danek 2001:11761473}" "" "350delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694308del" "" "pathogenic (recessive)" "" "0001022029" "0" "90" "X" "37587066" "37587067" "del" "0" "00006" "XK_000028" "g.37587066_37587067del" "" "{PMID:Danek 2001:11761473}" "" "768-769delTT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37727813_37727814del" "" "pathogenic (recessive)" "" "0001022030" "0" "90" "X" "37587151" "37587151" "del" "0" "00006" "XK_000030" "g.37587151del" "" "{PMID:Danek 2001:11761473}" "" "853delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37727898del" "" "pathogenic (recessive)" "" "0001022031" "0" "90" "X" "37587236" "37587240" "del" "0" "00006" "XK_000031" "g.37587236_37587240del" "" "{PMID:Danek 2001:11761473}" "" "938-942delCTCTA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37727983_37727987del" "" "pathogenic (recessive)" "" "0001022032" "0" "90" "X" "37587318" "37587331" "del" "0" "00006" "XK_000033" "g.37587318_37587331del" "" "{PMID:Danek 2001:11761473}" "" "c.1020_1033del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37728065_37728078del" "" "pathogenic (recessive)" "" "0001022033" "21" "90" "X" "37545321" "37545321" "subst" "0" "00006" "XK_000022" "g.37545321G>A" "" "{PMID:Malandrini 1994:7931427}, {PMID:Danek 2001:11761473}" "" "189G>A" "" "Germline" "yes" "" "0" "" "" "g.37686068G>A" "" "pathogenic (recessive)" "" "0001022034" "0" "90" "X" "37553690" "37553690" "subst" "0" "00006" "XK_000026" "g.37553690C>T" "" "{PMID:Dotti 2000:11104227}, {PMID:Danek 2001:11761473}" "" "479C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694437C>T" "" "pathogenic (recessive)" "" "0001022035" "0" "90" "X" "37553690" "37553690" "subst" "0" "00006" "XK_000026" "g.37553690C>T" "" "{PMID:Danek 2001:11761473}" "" "479C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694437C>T" "" "pathogenic (recessive)" "" "0001022036" "0" "90" "X" "37553690" "37553690" "subst" "0" "00006" "XK_000026" "g.37553690C>T" "" "{PMID:Danek 2001:11761473}" "" "479C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694437C>T" "" "pathogenic (recessive)" "" "0001022037" "0" "90" "X" "37553690" "37553690" "subst" "0" "00006" "XK_000026" "g.37553690C>T" "" "{PMID:Danek 2001:11761473}" "" "479C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694437C>T" "" "pathogenic (recessive)" "" "0001022038" "0" "90" "X" "37545460" "37545460" "subst" "0" "00006" "XK_000023" "g.37545460G>A" "" "{PMID:Swash 1983:6685553}, {PMID:Carter 1990:2193159}, {PMID:Danek 2001:11761473}" "" "IVS2+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37686207G>A" "" "pathogenic (recessive)" "" "0001022039" "21" "90" "X" "37553756" "37553756" "subst" "0" "00006" "XK_000027" "g.37553756C>T" "" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "" "545C>T" "" "Germline" "yes" "" "0" "" "" "g.37694503C>T" "" "pathogenic (recessive)" "" "0001022040" "21" "90" "X" "37553756" "37553756" "subst" "0" "00006" "XK_000027" "g.37553756C>T" "" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "" "545C>T" "" "Germline" "yes" "" "0" "" "" "g.37694503C>T" "" "pathogenic (recessive)" "" "0001022041" "0" "90" "X" "37553538" "37553538" "subst" "0" "00006" "XK_000024" "g.37553538G>A" "" "{PMID:Swash 1983:6685553}, {PMID:Carter 1990:2193159}, {PMID:Danek 2001:11761473}" "" "IVS2-1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37694285G>A" "" "pathogenic (recessive)" "" "0001022042" "0" "90" "X" "37587087" "37587087" "subst" "0" "00006" "XK_000029" "g.37587087G>A" "" "{PMID:Danek 2001:11761473}" "" "c.789G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37727834G>A" "" "pathogenic (recessive)" "" "0001022043" "0" "90" "X" "37587260" "37587260" "subst" "0" "00006" "XK_000032" "g.37587260T>C" "" "{PMID:Danek 2001:11746618}, {PMID:Danek 2001:11761473}" "" "c.962T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37728007T>C" "" "pathogenic (recessive)" "" ## 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 XK ## Count = 58 "{{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}}" "0000235414" "00022914" "50" "-1" "0" "1336" "0" "c.-82_*3668{2}" "r.?" "p.?" "_1_3_" "0000235488" "00022914" "90" "-1" "0" "1336" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000235489" "00022914" "90" "-1" "0" "1336" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000235490" "00022914" "90" "-1" "0" "1336" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000320052" "00022914" "30" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Pro423Ser)" "" "0000320053" "00022914" "50" "433" "0" "433" "0" "c.433T>G" "r.(?)" "p.(Phe145Val)" "" "0000320054" "00022914" "30" "508" "4" "508" "4" "c.508+4C>T" "r.spl?" "p.?" "" "0000320055" "00022914" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Glu17=)" "" "0000333726" "00022914" "50" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Leu379Phe)" "" "0000394007" "00022914" "50" "872" "0" "872" "0" "c.872A>G" "r.(?)" "p.(Asn291Ser)" "" "0000575795" "00022914" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000575796" "00022914" "10" "1108" "0" "1108" "0" "c.1108T>G" "r.(?)" "p.(Tyr370Asp)" "" "0000575797" "00022914" "30" "1108" "0" "1108" "0" "c.1108T>G" "r.(?)" "p.(Tyr370Asp)" "" "0000624598" "00022914" "30" "57" "0" "57" "0" "c.57G>C" "r.(?)" "p.(Thr19=)" "" "0000682404" "00022914" "30" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(Asp164=)" "" "0000682405" "00022914" "30" "1221" "0" "1221" "0" "c.1221G>A" "r.(?)" "p.(Pro407=)" "" "0000693573" "00022914" "50" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Ile357Thr)" "" "0000728857" "00022914" "50" "1229" "0" "1229" "0" "c.1229A>C" "r.(?)" "p.(Lys410Thr)" "" "0000874761" "00022914" "50" "1312" "0" "1312" "0" "c.1312G>A" "r.(?)" "p.(Ala438Thr)" "" "0000896176" "00022914" "10" "1108" "0" "1108" "0" "c.1108T>G" "r.(?)" "p.(Tyr370Asp)" "" "0000918419" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000918421" "00022914" "90" "0" "0" "0" "0" "c.-82_509-1465{0}" "r.0" "p.0" "_1_2i" "0000918422" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000918588" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000918591" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000918592" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000918597" "00022914" "90" "0" "0" "0" "0" "-2135979_*1311340del" "r.0" "p.0" "_1_3_" "0000918599" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000919064" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000919936" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000919937" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000920210" "00022914" "90" "-82" "0" "86334" "0" "c.(?_-82)_(*84999_?)del" "r.0" "p.0" "_1_3_" "0000920211" "00022914" "90" "-82" "0" "86334" "0" "c.(?_-82)_(*84999_?)del" "r.0" "p.0" "_1_3_" "0000931401" "00022914" "30" "508" "4" "508" "4" "c.508+4C>T" "r.spl?" "p.?" "" "0000934347" "00022914" "90" "0" "0" "0" "0" "c.-82_*3668{0}" "r.0" "p.0" "_1_3_" "0000971054" "00022914" "30" "1176" "0" "1176" "0" "c.1176C>G" "r.(?)" "p.(=)" "" "0000984655" "00022914" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0001021830" "00022914" "90" "-6407870" "0" "5003" "0" "c.(?_-6407870)_(*3668_?)del" "r.0?" "p.0?" "_1_3_" "0001022024" "00022914" "90" "" "0" "" "0" "c.(?_-82)_(*3668_?)del" "r.0?" "p.0?" "_1_3_" "0001022025" "00022914" "90" "-200" "0" "245" "1" "c.(?_-200)_(245+1_246-1)del" "r.0?" "p.0?" "_1_1i" "0001022026" "00022914" "90" "-200" "0" "245" "1" "c.(?_-200)_(245+1_246-1)del" "r.0?" "p.0?" "_1_1i" "0001022027" "00022914" "90" "-82" "0" "-82" "0" "c.(?_-82)_(-82_246-1)del" "r.0?" "p.0?" "_1_" "0001022028" "00022914" "90" "268" "0" "268" "0" "c.268del" "r.(?)" "p.(Tyr90ThrfsTer40)" "2" "0001022029" "00022914" "90" "686" "0" "687" "0" "c.686_687del" "r.(?)" "p.(Phe229TyrfsTer36)" "3" "0001022030" "00022914" "90" "771" "0" "771" "0" "c.771del" "r.(?)" "p.(Trp257CysfsTer11)" "3" "0001022031" "00022914" "90" "856" "0" "860" "0" "c.856_860del" "r.(?)" "p.(Leu286TyrfsTer16)" "3" "0001022032" "00022914" "90" "938" "0" "951" "0" "c.938_951del" "r.(?)" "p.(Asn313ThrfsTer24)" "3" "0001022033" "00022914" "90" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Trp36Ter)" "1" "0001022034" "00022914" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Ter)" "2" "0001022035" "00022914" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Ter)" "2" "0001022036" "00022914" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Ter)" "2" "0001022037" "00022914" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Ter)" "2" "0001022038" "00022914" "90" "245" "1" "245" "1" "c.245+1G>A" "r.spl" "p.?" "2i" "0001022039" "00022914" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155Ter)" "2" "0001022040" "00022914" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Gln155Ter)" "2" "0001022041" "00022914" "90" "246" "-1" "246" "-1" "c.246-1G>A" "r.spl" "p.?" "2i" "0001022042" "00022914" "90" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Trp236Ter)" "3" "0001022043" "00022914" "90" "880" "0" "880" "0" "c.880T>C" "r.(?)" "p.(Cys294Arg)" "3" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000144612" "0000235414" "0000144662" "0000235488" "0000144663" "0000235489" "0000144664" "0000235490" "0000173768" "0000394007" "0000432804" "0000918419" "0000432806" "0000918421" "0000432807" "0000918422" "0000432965" "0000918588" "0000432968" "0000918591" "0000432969" "0000918592" "0000432974" "0000918597" "0000432975" "0000918599" "0000433416" "0000919064" "0000434261" "0000919936" "0000434262" "0000919937" "0000434453" "0000920210" "0000434454" "0000920211" "0000438644" "0000934347" "0000462312" "0001021830" "0000462499" "0001022024" "0000462500" "0001022025" "0000462501" "0001022026" "0000462502" "0001022027" "0000462503" "0001022028" "0000462504" "0001022029" "0000462505" "0001022030" "0000462506" "0001022031" "0000462507" "0001022032" "0000462508" "0001022033" "0000462509" "0001022034" "0000462510" "0001022035" "0000462511" "0001022036" "0000462512" "0001022037" "0000462513" "0001022038" "0000462514" "0001022039" "0000462515" "0001022040" "0000462516" "0001022041" "0000462517" "0001022042" "0000462518" "0001022043"