### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCD1) # 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}}" "ABCD1" "ATP-binding cassette, sub-family D (ALD), member 1" "X" "q28" "no" "NG_009022.2" "UD_132084538585" "" "http://www.LOVD.nl/ABCD1" "Adrenoleukodystrophy ABCD1 database " "1" "61" "215" "300371" "1" "1" "1" "1" "The work leading to the establishment of this gene variant was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. The database was initiated to assist storing 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." "" "g" "http://databases.lovd.nl/shared/refseq/ABCD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2017-06-20 16:59:53" "00000" "2025-07-08 13:22:38" ## 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}}" "00000390" "ABCD1" "ATP-binding cassette, sub-family D (ALD), member 1" "001" "NM_000033.3" "" "NP_000024.2" "" "" "" "-399" "3265" "2238" "152990323" "153010216" "00000" "2012-09-13 12:11:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02143" "ALD" "adrenoleukodystrophy (ALD)" "XLR" "300100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "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" "07052" "adrenal hyperplasia" "adrenal hyperplasia, congenital, not due to 21-hydroxylase deficiency" "" "" "" "" "" "00006" "2023-12-24 11:17:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ABCD1" "00139" "ABCD1" "02143" ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052135" "" "" "" "1" "" "00006" "{PMID:Matsumoto 2005:16152637}, {DOI:Matsumoto 2005:10.1002/ajmg.a.30951}" "" "M" "" "Japan" "" "0" "" "" "" "" "00052346" "" "" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, heterozygous carrier mother (5 affected sons)" "F" "no" "Austria" "" "0" "" "" "" "" "00052347" "" "00052346" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, son" "M" "no" "Austria" ">32y" "0" "" "" "" "" "00052348" "" "00052346" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, son" "M" "no" "Austria" ">29y" "0" "" "" "" "" "00052349" "" "00052346" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, son" "M" "no" "Austria" "13y" "0" "" "" "" "" "00052350" "" "00052346" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, son" "M" "no" "Austria" "09y" "0" "" "" "" "" "00052351" "" "00052346" "" "1" "" "00006" "{PMID:Berger 1994:7811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}" "2-generation family, son" "M" "no" "Austria" ">20y" "0" "" "" "" "" "00052352" "" "" "" "1" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "family, 1 affected boy" "M" "no" "Viet Nam" "" "0" "" "" "" "" "00052353" "" "" "" "1" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "family, 1 affected boy, 2 unaffected heterozygous carriers" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052354" "" "" "" "2" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "family, 2 affected boys, 1 unaffected heterozygous carrier" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052355" "" "" "" "2" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "family, 2 affected boys" "M" "no" "Germany" "" "0" "" "" "" "" "00052356" "" "" "" "2" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "family, 2 affected boys" "M" "no" "Netherlands" "" "0" "" "" "" "" "00052357" "" "" "" "5" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "no" "" "" "0" "" "" "" "" "00052358" "" "" "" "25" "" "00006" "{PMID:Kemp 1994:8048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "no" "" "" "0" "" "" "" "" "00052371" "" "" "" "35" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "European" "" "00052378" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052379" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052380" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052381" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052382" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052383" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052384" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052385" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052386" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052387" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052388" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052389" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052390" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052391" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "heterozygous carrier mother, no patient material available" "F" "" "Netherlands" "" "0" "" "" "" "" "00052392" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052393" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052394" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052395" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052396" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052397" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052398" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052399" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052400" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052401" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052402" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052403" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052404" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052405" "" "" "" "1" "" "00006" "{PMID:Mosser 1994:8004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00052408" "" "" "" "2" "" "00006" "{PMID:Jiang 2015:26260157}, {DOI:Jiang 2015:10.1007/s11011-015-9717-6}" "2-generation family, 2 male sibs (Pat18/19), unaffected heterozygous mother (VLCFA 0.89)" "M" "" "China" ">04y06m" "0" "" "" "" "" "00052409" "" "" "00052408" "1" "" "00006" "{PMID:Jiang 2015:26260157}, {DOI:Jiang 2015:10.1007/s11011-015-9717-6}" "2-generation family, 2nd sib" "M" "" "China" ">02y03m" "0" "" "" "" "" "00087103" "" "" "" "1" "" "01805" "" "" "M" "" "India" "" "0" "" "" "" "" "00087104" "" "" "" "1" "" "01805" "" "heterozygous carrier mother, no patient material available" "F" "" "India" "" "0" "" "" "" "" "00087208" "" "" "" "1" "" "01805" "" "" "M" "" "India" "" "0" "" "" "indian" "" "00180937" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00271378" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00294962" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295412" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295496" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00358878" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "8.\tABCD1" "00374174" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2407" "00374175" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2545" "00374176" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5919" "00374177" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6559" "00374178" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3648" "00380766" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00417427" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "" "00418517" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam14" "00419090" "" "" "" "1" "" "04399" "Feixia zheng 2022, submitted" "" "M" "no" "China" "" "0" "" "HSCT" "" "" "00419457" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9039" "00444047" "" "" "" "1" "" "00006" "{PMID:Sarker 2023:38057384}" "no family history" "M" "" "Bangladesh" "" "0" "" "" "" "PID_15" "00444489" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat97" "00444490" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat98" "00444491" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat99" "00444492" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat100" "00444493" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat101" "00444494" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat102" "00444495" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat103" "00444496" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat104" "00449550" "" "" "" "1" "" "00006" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00052135" "02143" "00052346" "00198" "00052347" "00198" "00052348" "02143" "00052349" "02143" "00052350" "02143" "00052351" "00198" "00052352" "02143" "00052353" "02143" "00052354" "02143" "00052355" "02143" "00052356" "02143" "00052371" "00187" "00052378" "02143" "00052379" "02143" "00052380" "02143" "00052381" "02143" "00052382" "02143" "00052383" "02143" "00052384" "02143" "00052385" "02143" "00052386" "02143" "00052387" "02143" "00052388" "02143" "00052389" "02143" "00052390" "02143" "00052391" "02143" "00052392" "02143" "00052393" "02143" "00052394" "02143" "00052395" "02143" "00052396" "02143" "00052397" "02143" "00052398" "02143" "00052399" "02143" "00052400" "02143" "00052401" "02143" "00052402" "02143" "00052403" "02143" "00052404" "02143" "00052405" "02143" "00052408" "02143" "00052409" "02143" "00180937" "00198" "00183137" "00187" "00271378" "00198" "00294962" "00198" "00295412" "00198" "00295496" "00198" "00358878" "00198" "00374174" "00198" "00374175" "00198" "00374176" "00198" "00374177" "00198" "00374178" "00198" "00380766" "02143" "00417427" "02143" "00418517" "00198" "00419090" "02143" "00419457" "00198" "00444047" "05324" "00444489" "07052" "00444490" "07052" "00444491" "07052" "00444492" "07052" "00444493" "07052" "00444494" "07052" "00444495" "07052" "00444496" "07052" "00449550" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157, 02143, 05324, 05611, 07052 ## Count = 69 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038756" "02143" "00052135" "00006" "Isolated (sporadic)" "" "born 40w gestation, birth weight 3198g; 1y-normal developmental milestones; walk-12m; 3y-speak two-word sentences; developed convulsions several times since age 2y; 39m-admitted to hospital, normal height/weight/physical examinations, ECG spikes and spike-and-waves left occicipital region; MRI brain FLAIR-method high signal intensity areas both occicipital regions, small high-signal-intensity areas scattered in anterior/temporal parts cerebrum; motor and sensory nerve conduction velocity normal; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038922" "00198" "00052346" "00006" "Familial" "" "slowly developing spastic paraparesis, increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038923" "00198" "00052347" "00006" "Familial, X-linked dominant" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038924" "02143" "00052348" "00006" "Familial, X-linked dominant" "29y" "adolescent adrenoleukodystrophy (AALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038925" "02143" "00052349" "00006" "Familial, X-linked dominant" "" "childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 4y; increased levels of very long chain fatty acids (VLCFA)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "0000038926" "02143" "00052350" "00006" "Familial, X-linked dominant" "" "childhood cerebral adrenoleukodystrophy (CALD), died after clinical course of 1.5y; increased levels of very long chain fatty acids (VLCFA)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000038927" "00198" "00052351" "00006" "Familial, X-linked dominant" "" "Addison disease (ADD), increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038928" "02143" "00052352" "00006" "Familial, X-linked" "" "boy died of childhood cerebral ALD (CCALD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038929" "02143" "00052353" "00006" "Familial, X-linked" "" "adrenomyeloneuropathy (AMN)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038930" "02143" "00052354" "00006" "Familial, X-linked" "" "both patients have adrenomyeloneuropathy (AMN)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038931" "02143" "00052355" "00006" "Familial, X-linked" "" "childhood cerebral ALD (CCALD) and young symptomatic" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038932" "02143" "00052356" "00006" "Familial, X-linked" "" "both patients have adrenomyeloneuropathy (AMN)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038945" "00187" "00052371" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038952" "02143" "00052378" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038953" "02143" "00052379" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038954" "02143" "00052380" "00006" "Unknown" "" "increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038955" "02143" "00052381" "00006" "Unknown" "" "increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038956" "02143" "00052382" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038957" "02143" "00052383" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038958" "02143" "00052384" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038959" "02143" "00052385" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038960" "02143" "00052386" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038961" "02143" "00052387" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038962" "02143" "00052388" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038963" "02143" "00052389" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038964" "02143" "00052390" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038965" "02143" "00052391" "00006" "Unknown" "" "symptomatic carrier; increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038966" "02143" "00052392" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038967" "02143" "00052393" "00006" "Unknown" "" "increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038968" "02143" "00052394" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038969" "02143" "00052395" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038970" "02143" "00052396" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038971" "02143" "00052397" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038972" "02143" "00052398" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038973" "02143" "00052399" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038974" "02143" "00052400" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038975" "02143" "00052401" "00006" "Unknown" "" "adrenomyeloneuropathy (AMN); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038976" "02143" "00052402" "00006" "Unknown" "" "increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038977" "02143" "00052403" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038978" "02143" "00052404" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038979" "02143" "00052405" "00006" "Unknown" "" "childhood cerebral adrenoleukodystrophy (CALD); increased levels of very long chain fatty acids (VLCFA)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000038985" "02143" "00052408" "00006" "Familial, X-linked" "" "childhood cerebral adrenoleukodystrophy (CCALD), hyperpigmentation; VLCFA 5.6 (<0.89), ACTH 221 (1-10); MRI-dilation cerebral ventricles" "01y" "" "04y06m" "" "" "" "no" "" "" "" "" "" "" "0000038986" "02143" "00052409" "00006" "Familial, X-linked" "" "Addison only (AO), hematopoietic stem cell transplantation, hyperpigmentation; VLCFA 5.84 (<0.89), ACTH 110 (1-10); MRI-no white matter lesions" "01y03m" "" "02y03m" "" "" "" "no" "" "" "" "" "" "" "0000143208" "00198" "00180937" "01807" "Unknown" "" "HP:0001257 (Spasticity)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000207985" "00198" "00271378" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223067" "00198" "00295496" "01164" "Unknown" "" "Visual impairment (HP:0000505); Paraplegia/paraparesis (HP:0010551)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000254136" "00198" "00358878" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269384" "00198" "00374174" "00006" "Familial, X-linked" "" "Hyperpigmentation, memory loss and elevated VLCFA. MRI showed leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269385" "00198" "00374175" "00006" "Familial, X-linked" "" "Addison disease, high VLCFA and features suggestive of X-linked adrenoleukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269386" "00198" "00374176" "00006" "Familial, X-linked" "" "Minimal hyperpigmentation, short stature and impending adrenal insufficiency" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269387" "00198" "00374177" "00006" "Familial, X-linked" "" "Encephalopathy, delayed motor development, dysarthria, global developmental delay, failure to thrive, spasticity, cognitive deficit, ID, optic atrophy and hearing loss. Suspected of adrenoleukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy, intellectual disability" "" "0000269388" "00198" "00374178" "00006" "Familial, X-linked" "" "Progressive darkening of skin, deterioration of scholastic performance, leukodystrophy, worsening of handwriting and increased levels of VLCFA indicative of leukodystrophy" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000274619" "02143" "00380766" "00000" "Familial" "" "Neuroregression; hearing problems; adrenal insufficiency (Neurology)" "" "" "" "" "" "" "" "" "" "" "Adrenoleukodystrophy" "" "" "0000308913" "02143" "00417427" "01864" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310379" "02143" "00419090" "04399" "Familial, X-linked" "06y07m" "Increased circulating very long-chain fatty acid concentration （HP:0033643）; Demyelination in central white matter（HP:0007305）" "?" "" "06y09m" "no symptom" "" "" "no" "" "" "" "ALD" "ALD" "" "0000310738" "00198" "00419457" "02300" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" "" "0000333304" "05324" "00444047" "00006" "Unknown" "" "calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive" "" "" "" "" "" "" "" "" "" "" "" "DMD" "" "0000333742" "07052" "00444489" "00006" "Familial, X-linked recessive" "" "hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333743" "07052" "00444490" "00006" "Familial, X-linked recessive" "" "visual impairment; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "5y3m" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333744" "07052" "00444491" "00006" "Familial, X-linked recessive" "" "regression of motor ability; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "5y10m" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333745" "07052" "00444492" "00006" "Familial, X-linked recessive" "" "cognitive and behavioral changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "10y" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333746" "07052" "00444493" "00006" "Familial, X-linked recessive" "" "hyperpigmentation; cognitive changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "10y" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333747" "07052" "00444494" "00006" "Familial, X-linked recessive" "" "cognitive and behavioral changes; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "10y" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333748" "07052" "00444495" "00006" "Familial, X-linked recessive" "" "recurrent convulsion; intellectual disability; regression of motor ability; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "7y3m" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000333749" "07052" "00444496" "00006" "Familial, X-linked recessive" "" "hyperpigmentation; regression of motor ability; visual impairment; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "2y" "" "" "" "" "" "" "" "" "" "ALD" "adrenoleukodystrophy" "" "0000338724" "05611" "00449550" "00006" "Isolated (sporadic)" "15y" "see paper; ..., increased nuchal translucency; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; tics; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, large ears, short philtrum;" "" "" "" "" "" "" "" "" "" "" "" "developmental delay, intellectual disability, dysmorphic features" "" ## Screenings ## Do not remove or alter this header ## ## Count = 77 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000052083" "00052135" "1" "00006" "00006" "2015-10-18 16:53:37" "00006" "2015-10-18 17:06:10" "PCR;SEQ" "DNA" "" "" "0000052294" "00052346" "1" "00006" "00006" "2015-10-22 15:32:25" "" "" "SEQ" "DNA" "" "" "0000052295" "00052347" "1" "00006" "00006" "2015-10-22 15:58:14" "" "" "SEQ" "DNA" "" "" "0000052296" "00052348" "1" "00006" "00006" "2015-10-22 15:58:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052297" "00052349" "1" "00006" "00006" "2015-10-22 15:58:14" "" "" "SEQ" "DNA" "" "" "0000052298" "00052350" "1" "00006" "00006" "2015-10-22 15:58:14" "" "" "SEQ" "DNA" "" "" "0000052299" "00052351" "1" "00006" "00006" "2015-10-22 15:58:14" "" "" "SEQ" "DNA" "" "" "0000052300" "00052352" "1" "00006" "00006" "2015-10-22 16:43:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052301" "00052353" "1" "00006" "00006" "2015-10-22 16:43:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052302" "00052354" "1" "00006" "00006" "2015-10-22 16:43:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052303" "00052355" "1" "00006" "00006" "2015-10-22 16:43:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052304" "00052356" "1" "00006" "00006" "2015-10-22 16:43:48" "" "" "SEQ" "DNA" "" "" "0000052305" "00052357" "1" "00006" "00006" "2015-10-22 16:47:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052306" "00052358" "1" "00006" "00006" "2015-10-22 16:47:08" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052319" "00052371" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000052326" "00052378" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052327" "00052379" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052328" "00052380" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052329" "00052381" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052330" "00052382" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052331" "00052383" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052332" "00052384" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052333" "00052385" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052334" "00052386" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052335" "00052387" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052336" "00052388" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052337" "00052389" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052338" "00052390" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052339" "00052391" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052340" "00052392" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052341" "00052393" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052342" "00052394" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052343" "00052395" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052344" "00052396" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052345" "00052397" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052346" "00052398" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052347" "00052399" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052348" "00052400" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052349" "00052401" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052350" "00052402" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052351" "00052403" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052352" "00052404" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052353" "00052405" "1" "00006" "00006" "2015-10-23 21:57:54" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000052356" "00052408" "1" "00006" "00006" "2015-10-24 21:24:46" "" "" "PCR" "DNA" "" "" "0000052357" "00052409" "1" "00006" "00006" "2015-10-24 21:47:37" "" "" "PCR" "DNA" "" "" "0000087242" "00087103" "1" "01805" "01805" "2016-11-12 11:48:36" "" "" "SEQ" "DNA" "" "" "0000087243" "00087104" "1" "01805" "01805" "2016-11-12 12:21:19" "" "" "SEQ" "DNA" "" "" "0000088308" "00087208" "1" "01805" "01805" "2016-11-21 12:35:36" "" "" "SEQ" "DNA" "" "" "0000181877" "00180937" "1" "01807" "01807" "2018-09-13 19:36:18" "" "" "SEQ" "DNA" "" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000272529" "00271378" "1" "01807" "01807" "2019-12-18 16:26:22" "" "" "SEQ" "DNA" "" "" "0000296130" "00294962" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296580" "00295412" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296664" "00295496" "1" "01164" "01164" "2020-03-12 11:13:12" "" "" "SEQ-NG-S" "DNA" "" "" "0000360110" "00358878" "1" "03566" "03566" "2021-03-17 07:09:31" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000375368" "00374174" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375369" "00374175" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375370" "00374176" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375371" "00374177" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375372" "00374178" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000381980" "00380766" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000418720" "00417427" "1" "01864" "01864" "2022-09-16 11:59:08" "" "" "SEQ" "DNA" "" "" "0000419812" "00418517" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000420388" "00419090" "1" "04399" "04399" "2022-10-15 09:24:42" "" "" "SEQ-NG-I" "RNA" "" "" "0000420761" "00419457" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000445544" "00444047" "1" "00006" "00006" "2023-12-11 17:21:28" "" "" "PCRm;SEQ-NG" "DNA" "" "WES" "0000446057" "00444489" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000446058" "00444490" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000446059" "00444491" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000446060" "00444492" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000446061" "00444493" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000446062" "00444494" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000446063" "00444495" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000446064" "00444496" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000451140" "00449550" "1" "00006" "00006" "2024-04-22 10:35:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000052083" "ABCD1" "0000052083" "PLXNB3" "0000052294" "ABCD1" "0000052295" "ABCD1" "0000052296" "ABCD1" "0000052297" "ABCD1" "0000052298" "ABCD1" "0000052299" "ABCD1" "0000052300" "ABCD1" "0000052301" "ABCD1" "0000052302" "ABCD1" "0000052303" "ABCD1" "0000052304" "ABCD1" "0000052305" "ABCD1" "0000052306" "ABCD1" "0000052319" "ABCD1" "0000052326" "ABCD1" "0000052327" "ABCD1" "0000052328" "ABCD1" "0000052329" "ABCD1" "0000052330" "ABCD1" "0000052331" "ABCD1" "0000052332" "ABCD1" "0000052333" "ABCD1" "0000052334" "ABCD1" "0000052335" "ABCD1" "0000052336" "ABCD1" "0000052337" "ABCD1" "0000052338" "ABCD1" "0000052339" "ABCD1" "0000052340" "ABCD1" "0000052341" "ABCD1" "0000052342" "ABCD1" "0000052343" "ABCD1" "0000052344" "ABCD1" "0000052345" "ABCD1" "0000052346" "ABCD1" "0000052347" "ABCD1" "0000052348" "ABCD1" "0000052349" "ABCD1" "0000052350" "ABCD1" "0000052351" "ABCD1" "0000052352" "ABCD1" "0000052353" "ABCD1" "0000052356" "ABCD1" "0000052357" "ABCD1" "0000087242" "ABCD1" "0000087243" "ABCD1" "0000088308" "ABCD1" "0000184095" "MECP2" "0000375368" "ABCD1" "0000375369" "ABCD1" "0000375370" "ABCD1" "0000375371" "ABCD1" "0000375372" "ABCD1" "0000418720" "ABCD1" "0000420388" "ABCD1" "0000445544" "DMD" "0000446057" "ABCD1" "0000446058" "ABCD1" "0000446059" "ABCD1" "0000446060" "ABCD1" "0000446061" "ABCD1" "0000446062" "ABCD1" "0000446063" "ABCD1" "0000446064" "ABCD1" ## 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 = 275 "{{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}}" "0000002218" "0" "50" "X" "153009744" "153009750" "del" "0" "00037" "ABCD1_000018" "g.153009744_153009750del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744290_153744296del" "" "VUS" "" "0000003322" "0" "50" "X" "153010000" "153010003" "dup" "0" "00037" "ABCD1_000035" "g.153010000_153010003dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744546_153744549dup" "" "VUS" "" "0000008014" "20" "50" "X" "153008911" "153008911" "subst" "0" "00037" "ABCD1_000006" "g.153008911C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743457C>T" "" "VUS" "" "0000008015" "20" "50" "X" "153009197" "153009197" "subst" "0" "00037" "ABCD1_000009" "g.153009197G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743743G>C" "" "VUS" "" "0000008016" "0" "50" "X" "153009719" "153009719" "subst" "0" "00037" "ABCD1_000016" "g.153009719G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744265G>A" "" "VUS" "" "0000008017" "0" "50" "X" "153009876" "153009876" "subst" "0" "00037" "ABCD1_000022" "g.153009876G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744422G>C" "" "VUS" "" "0000008018" "0" "50" "X" "153010059" "153010059" "subst" "0" "00037" "ABCD1_000025" "g.153010059G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744605G>T" "" "VUS" "" "0000008019" "0" "50" "X" "153010066" "153010066" "subst" "0" "00037" "ABCD1_000028" "g.153010066C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744612C>T" "" "VUS" "" "0000010173" "0" "50" "X" "153006341" "153006342" "ins" "0" "00037" "ABCD1_000002" "g.153006341_153006342insGCATGGGTG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153740887_153740888insGCATGGGTG" "" "VUS" "" "0000010174" "0" "50" "X" "153008291" "153008291" "subst" "0" "00037" "ABCD1_000003" "g.153008291A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153742837A>G" "" "VUS" "" "0000010175" "0" "50" "X" "153008476" "153008476" "subst" "0" "00037" "ABCD1_000004" "g.153008476T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743022T>C" "" "VUS" "" "0000010176" "0" "50" "X" "153008483" "153008483" "subst" "0" "00037" "ABCD1_000005" "g.153008483G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743029G>A" "" "VUS" "" "0000010177" "20" "50" "X" "153008911" "153008911" "subst" "0" "00037" "ABCD1_000006" "g.153008911C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743457C>T" "" "VUS" "" "0000010178" "0" "50" "X" "153009488" "153009488" "subst" "0" "00037" "ABCD1_000011" "g.153009488C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744034C>T" "" "VUS" "" "0000010179" "0" "50" "X" "153009670" "153009670" "subst" "0" "00037" "ABCD1_000014" "g.153009670G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744216G>T" "" "VUS" "" "0000010180" "0" "50" "X" "153009719" "153009719" "subst" "0" "00037" "ABCD1_000016" "g.153009719G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744265G>A" "" "VUS" "" "0000010181" "0" "50" "X" "153009744" "153009750" "del" "0" "00037" "ABCD1_000018" "g.153009744_153009750del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744290_153744296del" "" "VUS" "" "0000010182" "0" "50" "X" "153009876" "153009876" "subst" "0" "00037" "ABCD1_000022" "g.153009876G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744422G>C" "" "VUS" "" "0000010183" "0" "50" "X" "153010059" "153010059" "subst" "0" "00037" "ABCD1_000025" "g.153010059G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744605G>T" "" "VUS" "" "0000010184" "0" "50" "X" "153010066" "153010066" "subst" "0" "00037" "ABCD1_000028" "g.153010066C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744612C>T" "" "VUS" "" "0000010185" "0" "50" "X" "153010083" "153010083" "subst" "0" "00037" "ABCD1_000031" "g.153010083G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744629G>A" "" "VUS" "" "0000010186" "0" "50" "X" "153010090" "153010090" "subst" "0" "00037" "ABCD1_000032" "g.153010090G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744636G>A" "" "VUS" "" "0000010187" "0" "50" "X" "153010092" "153010092" "subst" "0" "00037" "ABCD1_000017" "g.153010092G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744638G>A" "" "VUS" "" "0000011308" "0" "50" "X" "153010000" "153010003" "dup" "0" "00037" "ABCD1_000035" "g.153010000_153010003dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744546_153744549dup" "" "VUS" "" "0000015981" "0" "30" "X" "153005534" "153005534" "subst" "0" "00037" "ABCD1_000007" "g.153005534T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153740080T>G" "" "likely benign" "" "0000015983" "20" "50" "X" "153009197" "153009197" "subst" "0" "00037" "ABCD1_000009" "g.153009197G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153743743G>C" "" "VUS" "" "0000015985" "0" "50" "X" "153009665" "153009665" "subst" "0" "00037" "ABCD1_000013" "g.153009665A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744211A>G" "" "VUS" "" "0000015988" "0" "50" "X" "153009818" "153009818" "subst" "0" "00037" "ABCD1_000020" "g.153009818A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744364A>G" "" "VUS" "" "0000015989" "0" "50" "X" "153009838" "153009838" "subst" "0" "00037" "ABCD1_000021" "g.153009838C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153744384C>A" "" "VUS" "" "0000081524" "21" "90" "X" "152996242" "153031950" "del" "0" "00006" "ABCD1_000036" "g.152996242_153031950del" "" "{PMID:Matsumoto 2005:16152637}, {DOI:Matsumoto 2005:10.1002/ajmg.a.30951}" "" "del ex3-10 and PLXNB3 ex1-2" "deletion fuses ABCD1 and PLXNB3 gene (transcript not analysed)" "Germline" "yes" "" "0" "" "" "g.153730787_153766495del" "" "pathogenic" "" "0000081735" "0" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081736" "21" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "AocI-" "" "" "Germline" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081737" "21" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "AocI-" "" "" "Germline" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081738" "21" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "AocI-" "" "" "Germline" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081739" "21" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "AocI-" "" "" "Germline" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081740" "21" "90" "X" "153002668" "153002668" "subst" "0" "00006" "ABCD1_000037" "g.153002668C>G" "" "{PMID:Berger 1994:07811247}, {DOI:Berger 1994:10.1006/bbrc.1994.2855}, {OMIM300371:0002}" "AocI-" "" "" "Germline" "yes" "" "0" "" "" "g.153737214C>G" "" "pathogenic" "" "0000081741" "21" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/40 families" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "1801-1802delAG" "" "Germline" "yes" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081742" "21" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/40 families" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081743" "21" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/40 families" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081744" "21" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/40 families" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081745" "21" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/40 families" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "" "" "Germline" "yes" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081746" "1" "30" "X" "153005605" "153005605" "subst" "0.0955799" "00006" "ABCD1_000001" "g.153005605G>A" "5/34 chromosomes" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "1934G>A" "" "Germline" "no" "" "0" "" "" "g.153740151G>A" "" "likely benign" "" "0000081747" "1" "30" "X" "153009197" "153009197" "subst" "0" "00006" "ABCD1_000009" "g.153009197G>C" "25/33 chromosomes" "{PMID:Kemp 1994:08048932}, {DOI:Kemp 1994:10.1006/bbrc.1994.1979}" "" "2632C>G" "" "Germline" "no" "" "0" "" "" "g.153743743G>C" "" "likely benign" "" "0000081760" "1" "50" "X" "153005605" "153005605" "subst" "0.0955799" "00006" "ABCD1_000001" "g.153005605G>A" "35/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L516L" "recurrent, found 35 times" "Germline" "" "" "0" "" "" "g.153740151G>A" "" "VUS" "" "0000081769" "0" "90" "X" "153006026" "153006026" "subst" "0" "00006" "ABCD1_000047" "g.153006026A>G" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del2021-2054 (R545>)" "" "Germline" "" "" "0" "" "" "g.153740572A>G" "" "pathogenic" "" "0000081770" "0" "90" "X" "152990778" "152990778" "del" "0" "00006" "ABCD1_000058" "g.152990778del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "delC442 (A19>)" "" "Germline" "" "" "0" "" "" "g.153725323del" "" "pathogenic" "" "0000081771" "0" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del1801-1802 (E471>)" "" "Germline" "" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081772" "0" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del1801-1802 (E471>)" "" "Germline" "" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081773" "0" "90" "X" "153008486" "153008486" "subst" "0" "00006" "ABCD1_000049" "g.153008486A>G" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "A2212G (E609G)" "" "Germline" "" "" "0" "" "" "g.153743032A>G" "" "pathogenic" "" "0000081774" "0" "90" "X" "153008779" "153008781" "del" "0" "00006" "ABCD1_000052" "g.153008779_153008781del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del2355-2357 (delI657)" "" "Germline" "" "" "0" "" "" "g.153743325_153743327del" "" "pathogenic" "" "0000081775" "0" "90" "X" "152991380" "152991380" "subst" "0" "00006" "ABCD1_000043" "g.152991380T>C" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "T1045C (L220P)" "" "Germline" "" "" "0" "" "" "g.153725925T>C" "" "pathogenic" "" "0000081776" "0" "90" "X" "152991167" "152991167" "subst" "0" "00006" "ABCD1_000057" "g.152991167G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G832A (S149N)" "" "Germline" "" "" "0" "" "" "g.153725712G>A" "" "pathogenic" "" "0000081777" "0" "90" "X" "152991190" "152991190" "subst" "0" "00006" "ABCD1_000039" "g.152991190C>T" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C855T (Q157)" "" "Germline" "" "" "0" "" "" "g.153725735C>T" "" "pathogenic" "" "0000081778" "0" "90" "X" "152991132" "152991132" "subst" "0" "00006" "ABCD1_000056" "g.152991132G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G797A (W137)" "" "Germline" "" "" "0" "" "" "g.153725677G>A" "" "pathogenic" "" "0000081779" "0" "90" "X" "153005657" "153008801" "" "0" "00006" "ABCD1_000000" "g.153005657_(153008801_153008942)delinsN[?]" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "alt1989-2377 (P534>)" "genomic DNA 1601-1991 replaced by ˜574 segment from intron 7" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000081780" "0" "90" "X" "152991301" "152991301" "subst" "0" "00006" "ABCD1_000042" "g.152991301G>C" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G966C (D194H)" "" "Germline" "" "" "0" "" "" "g.153725846G>C" "" "pathogenic" "" "0000081781" "0" "90" "X" "153008485" "153008485" "subst" "0" "00006" "ABCD1_000048" "g.153008485G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G2211A (E609K)" "" "Germline" "" "" "0" "" "" "g.153743031G>A" "" "pathogenic" "" "0000081782" "0" "90" "X" "152991209" "152991209" "subst" "0" "00006" "ABCD1_000040" "g.152991209G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G874A (R163H)" "" "Germline" "" "" "0" "" "" "g.153725754G>A" "" "pathogenic" "" "0000081783" "0" "90" "X" "152991264" "152991264" "subst" "0" "00006" "ABCD1_000041" "g.152991264C>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C929A (Y181)" "" "Germline" "" "" "0" "" "" "g.153725809C>A" "" "pathogenic" "" "0000081784" "0" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del1801-1802 (E471>)" "" "Germline" "" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081785" "0" "90" "X" "152991031" "152991031" "subst" "0" "00006" "ABCD1_000054" "g.152991031C>T" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C696T (R104C)" "" "Germline" "" "" "0" "" "" "g.153725576C>T" "" "pathogenic" "" "0000081786" "0" "90" "X" "153008485" "153008485" "subst" "0" "00006" "ABCD1_000048" "g.153008485G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G2211A (E609K)" "" "Germline" "" "" "0" "" "" "g.153743031G>A" "" "pathogenic" "" "0000081787" "0" "90" "X" "153008665" "153008665" "subst" "0" "00006" "ABCD1_000051" "g.153008665A>G" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "2251ins8 (R622>)" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.153743211A>G" "" "pathogenic" "" "0000081788" "0" "90" "X" "153001650" "153001650" "subst" "0" "00006" "ABCD1_000046" "g.153001650G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G1552A (R389H)" "" "Germline" "" "" "0" "" "" "g.153736196G>A" "" "pathogenic" "" "0000081789" "0" "90" "X" "153008787" "153008787" "subst" "0" "00006" "ABCD1_000053" "g.153008787C>T" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C2364T (R660W)" "" "Germline" "" "" "0" "" "" "g.153743333C>T" "" "pathogenic" "" "0000081790" "0" "90" "X" "152990998" "152990998" "del" "0" "00006" "ABCD1_000059" "g.152990998del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "delC663 (G92>)" "" "Germline" "" "" "0" "" "" "g.153725543del" "" "pathogenic" "" "0000081791" "0" "90" "X" "153008509" "153008509" "subst" "0" "00006" "ABCD1_000050" "g.153008509C>T" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C2235T (R617C)" "" "Germline" "" "" "0" "" "" "g.153743055C>T" "" "pathogenic" "" "0000081792" "0" "90" "X" "152991517" "152991517" "subst" "0" "00006" "ABCD1_000045" "g.152991517G>A" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G1182A (G266R)" "" "Germline" "" "" "0" "" "" "g.153726062G>A" "" "pathogenic" "" "0000081793" "0" "90" "X" "153002632" "153002633" "del" "0" "00006" "ABCD1_000008" "g.153002632_153002633del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del1801-1802 (E471>)" "" "Germline" "" "" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "" "0000081794" "0" "90" "X" "152991118" "152991118" "subst" "0" "00006" "ABCD1_000055" "g.152991118C>T" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "C783T (Q133)" "" "Germline" "" "" "0" "" "" "g.153725663C>T" "" "pathogenic" "" "0000081795" "0" "90" "X" "152991176" "152991176" "subst" "0" "00006" "ABCD1_000038" "g.152991176G>C" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "G841C (R152P)" "" "Germline" "" "" "0" "" "" "g.153725721G>C" "" "pathogenic" "" "0000081796" "0" "90" "X" "152991506" "152991512" "del" "0" "00006" "ABCD1_000044" "g.152991506_152991512del" "1/28 families" "{PMID:Mosser 1994:08004093}, {DOI:Mosser 1994:10.1093/hmg/3.2.265}" "" "del1171-1178 (F261>)" "" "Germline" "" "" "0" "" "" "g.153726051_153726057del" "" "pathogenic" "" "0000081800" "21" "90" "X" "153001565" "153001968" "" "0" "00006" "ABCD1_000010" "g.(152994868_153001565)_(153001968_153002610)del" "" "{PMID:Jiang 2015:26260157}, {DOI:Jiang 2015:10.1007/s11011-015-9717-6}" "" "IVS2_IVS5del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000081801" "21" "90" "X" "153001565" "153001968" "" "0" "00006" "ABCD1_000010" "g.(152994868_153001565)_(153001968_153002610)del" "" "{PMID:Jiang 2015:26260157}, {DOI:Jiang 2015:10.1007/s11011-015-9717-6}" "" "IVS2_IVS5del" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000140365" "21" "90" "X" "153008770" "153008770" "subst" "0" "01805" "ABCD1_000060" "g.153008770T>C" "" "" "" "g.18448T>C" "" "Germline" "" "" "0" "" "" "g.153743316T>C" "" "pathogenic" "" "0000140400" "21" "90" "X" "153005610" "153005610" "subst" "5.62651E-6" "01805" "ABCD1_000061" "g.153005610G>A" "" "" "" "g.15288G>A" "heterozygous carrier mother, patient sample not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.153740156G>A" "" "pathogenic" "" "0000145975" "21" "90" "X" "153006054" "153006054" "subst" "0" "01805" "ABCD1_000062" "g.153006054G>A" "" "" "" "g.15732G>A" "" "Germline" "" "" "0" "" "" "g.153740600G>A" "" "pathogenic" "" "0000257041" "0" "10" "X" "153009197" "153009197" "subst" "0" "02330" "ABCD1_000009" "g.153009197G>C" "" "" "" "ABCD1(NM_000033.4):c.*8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743743G>C" "" "benign" "" "0000257042" "0" "10" "X" "153005605" "153005605" "subst" "0.0955799" "02330" "ABCD1_000001" "g.153005605G>A" "" "" "" "ABCD1(NM_000033.4):c.1548G>A (p.L516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740151G>A" "" "benign" "" "0000257043" "0" "50" "X" "153006137" "153006137" "subst" "0" "02330" "ABCD1_000079" "g.153006137G>A" "" "" "" "ABCD1(NM_000033.3):c.1744G>A (p.(Val582Ile)), ABCD1(NM_000033.4):c.1744G>A (p.V582I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740683G>A" "" "VUS" "" "0000257044" "0" "10" "X" "153006141" "153006141" "subst" "0" "02330" "ABCD1_000080" "g.153006141T>A" "" "" "" "ABCD1(NM_000033.3):c.1748T>A (p.(Val583Glu)), ABCD1(NM_000033.4):c.1748T>A (p.V583E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740687T>A" "" "benign" "" "0000257045" "0" "10" "X" "153008970" "153008970" "subst" "0" "02330" "ABCD1_000085" "g.153008970C>T" "" "" "" "ABCD1(NM_000033.3):c.2019C>T (p.(Phe673=)), ABCD1(NM_000033.4):c.2019C>T (p.F673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743516C>T" "" "benign" "" "0000258705" "0" "10" "X" "153006137" "153006137" "subst" "0" "02325" "ABCD1_000079" "g.153006137G>A" "" "" "" "ABCD1(NM_000033.3):c.1744G>A (p.(Val582Ile)), ABCD1(NM_000033.4):c.1744G>A (p.V582I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740683G>A" "" "benign" "" "0000258706" "0" "10" "X" "153006141" "153006141" "subst" "0" "02325" "ABCD1_000080" "g.153006141T>A" "" "" "" "ABCD1(NM_000033.3):c.1748T>A (p.(Val583Glu)), ABCD1(NM_000033.4):c.1748T>A (p.V583E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740687T>A" "" "benign" "" "0000259380" "0" "30" "X" "153008434" "153008434" "subst" "0" "02325" "ABCD1_000081" "g.153008434C>T" "" "" "" "ABCD1(NM_000033.4):c.1781-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153742980C>T" "" "likely benign" "" "0000259381" "0" "30" "X" "153008483" "153008483" "subst" "0" "02325" "ABCD1_000005" "g.153008483G>A" "" "" "" "ABCD1(NM_000033.4):c.1823G>A (p.G608D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743029G>A" "" "likely benign" "" "0000259607" "0" "50" "X" "153001835" "153001835" "subst" "5.59885E-6" "02325" "ABCD1_000072" "g.153001835G>A" "" "" "" "ABCD1(NM_000033.3):c.1261G>A (p.E421K, p.(Glu421Lys)), ABCD1(NM_000033.4):c.1261G>A (p.E421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736381G>A" "" "VUS" "" "0000259608" "0" "50" "X" "153008476" "153008476" "subst" "0" "02325" "ABCD1_000004" "g.153008476T>C" "" "" "" "ABCD1(NM_000033.4):c.1816T>C (p.S606P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743022T>C" "" "VUS" "" "0000259851" "0" "50" "X" "153008502" "153008502" "subst" "0" "02329" "ABCD1_000082" "g.153008502C>T" "" "" "" "ABCD1(NM_000033.3):c.1842C>T (p.G614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743048C>T" "" "VUS" "" "0000260473" "0" "30" "X" "153006141" "153006141" "subst" "0" "02326" "ABCD1_000080" "g.153006141T>A" "" "" "" "ABCD1(NM_000033.3):c.1748T>A (p.(Val583Glu)), ABCD1(NM_000033.4):c.1748T>A (p.V583E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740687T>A" "" "likely benign" "" "0000260474" "0" "30" "X" "153008984" "153008984" "subst" "0" "02326" "ABCD1_000086" "g.153008984G>A" "" "" "" "ABCD1(NM_000033.4):c.2033G>A (p.G678D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743530G>A" "" "likely benign" "" "0000261711" "0" "50" "X" "153001835" "153001835" "subst" "5.59885E-6" "01943" "ABCD1_000072" "g.153001835G>A" "" "" "" "ABCD1(NM_000033.3):c.1261G>A (p.E421K, p.(Glu421Lys)), ABCD1(NM_000033.4):c.1261G>A (p.E421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736381G>A" "" "VUS" "" "0000261712" "0" "30" "X" "153001941" "153001941" "subst" "3.93947E-5" "01943" "ABCD1_000074" "g.153001941G>A" "" "" "" "ABCD1(NM_000033.3):c.1367G>A (p.R456H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736487G>A" "" "likely benign" "" "0000261713" "0" "30" "X" "153005540" "153005540" "del" "0" "01943" "ABCD1_000075" "g.153005540del" "" "" "" "ABCD1(NM_000033.3):c.1489-6del (p.(=)), ABCD1(NM_000033.3):c.1489-7delC, ABCD1(NM_000033.4):c.1489-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740086del" "" "likely benign" "" "0000261714" "0" "50" "X" "153006092" "153006092" "subst" "0" "01943" "ABCD1_000077" "g.153006092C>T" "" "" "" "ABCD1(NM_000033.3):c.1699C>T (p.Q567*, p.(Gln567*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740638C>T" "" "VUS" "" "0000261715" "0" "30" "X" "153008708" "153008708" "subst" "0" "01943" "ABCD1_000083" "g.153008708C>T" "" "" "" "ABCD1(NM_000033.3):c.1899C>T (p.S633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743254C>T" "" "likely benign" "" "0000261716" "0" "30" "X" "153008720" "153008720" "subst" "0" "01943" "ABCD1_000084" "g.153008720C>T" "" "" "" "ABCD1(NM_000033.3):c.1911C>T (p.I637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743266C>T" "" "likely benign" "" "0000261717" "0" "50" "X" "153009016" "153009016" "subst" "0" "01943" "ABCD1_000087" "g.153009016C>T" "" "" "" "ABCD1(NM_000033.3):c.2065C>T (p.R689C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743562C>T" "" "VUS" "" "0000261718" "0" "30" "X" "153009063" "153009063" "subst" "0" "01943" "ABCD1_000088" "g.153009063G>A" "" "" "" "ABCD1(NM_000033.3):c.2112G>A (p.A704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743609G>A" "" "likely benign" "" "0000261719" "0" "30" "X" "152991087" "152991087" "subst" "0" "01943" "ABCD1_000065" "g.152991087C>A" "" "" "" "ABCD1(NM_000033.3):c.366C>A (p.I122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725632C>A" "" "likely benign" "" "0000261720" "0" "30" "X" "152991113" "152991113" "subst" "7.57722E-5" "01943" "ABCD1_000066" "g.152991113G>T" "" "" "" "ABCD1(NM_000033.3):c.392G>T (p.G131V, p.(Gly131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725658G>T" "" "likely benign" "" "0000261721" "0" "50" "X" "152991283" "152991283" "subst" "2.8058E-5" "01943" "ABCD1_000067" "g.152991283G>A" "" "" "" "ABCD1(NM_000033.3):c.562G>A (p.G188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725828G>A" "" "VUS" "" "0000261722" "0" "30" "X" "152991478" "152991478" "subst" "0.000815887" "01943" "ABCD1_000069" "g.152991478C>G" "" "" "" "ABCD1(NM_000033.3):c.757C>G (p.L253V, p.(Leu253Val)), ABCD1(NM_000033.4):c.757C>G (p.L253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726023C>G" "" "likely benign" "" "0000261723" "0" "30" "X" "152991570" "152991570" "subst" "0" "01943" "ABCD1_000070" "g.152991570C>T" "" "" "" "ABCD1(NM_000033.3):c.849C>T (p.H283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726115C>T" "" "likely benign" "" "0000336040" "0" "50" "X" "152986404" "152986404" "subst" "1.68092E-5" "01804" "BCAP31_000008" "g.152986404C>T" "" "" "" "BCAP31(NM_001139441.1):c.116G>A (p.(Arg39Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153720949C>T" "" "VUS" "" "0000336041" "0" "50" "X" "152988966" "152988966" "subst" "0" "01804" "BCAP31_000009" "g.152988966C>T" "" "" "" "BCAP31(NM_001139457.2):c.154G>A (p.(Ala52Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723511C>T" "" "VUS" "" "0000336042" "0" "50" "X" "152988981" "152988981" "subst" "0.000435993" "01804" "BCAP31_000010" "g.152988981G>A" "" "" "" "BCAP31(NM_001139457.2):c.139C>T (p.H47Y, p.(His47Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723526G>A" "" "VUS" "" "0000336043" "0" "30" "X" "152989463" "152989463" "subst" "0.0105117" "01804" "BCAP31_000011" "g.152989463G>T" "" "" "" "BCAP31(NM_001139441.1):c.-45+8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153724008G>T" "" "likely benign" "" "0000336044" "0" "30" "X" "152990761" "152990761" "subst" "7.29253E-5" "01804" "ABCD1_000063" "g.152990761A>G" "" "" "" "ABCD1(NM_000033.3):c.40A>G (p.T14A, p.(Thr14Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725306A>G" "" "likely benign" "" "0000336047" "0" "30" "X" "152991478" "152991478" "subst" "0.000815887" "01804" "ABCD1_000069" "g.152991478C>G" "" "" "" "ABCD1(NM_000033.3):c.757C>G (p.L253V, p.(Leu253Val)), ABCD1(NM_000033.4):c.757C>G (p.L253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726023C>G" "" "likely benign" "" "0000336048" "0" "30" "X" "152994682" "152994682" "subst" "0.000252779" "01804" "ABCD1_000071" "g.152994682C>T" "" "" "" "ABCD1(NM_000033.3):c.901-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153729227C>T" "" "likely benign" "" "0000336050" "0" "50" "X" "153006076" "153006076" "subst" "0" "01804" "ABCD1_000076" "g.153006076C>T" "" "" "" "ABCD1(NM_000033.3):c.1683C>T (p.D561=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740622C>T" "" "VUS" "" "0000336051" "0" "50" "X" "153006092" "153006092" "subst" "0" "01804" "ABCD1_000077" "g.153006092C>T" "" "" "" "ABCD1(NM_000033.3):c.1699C>T (p.Q567*, p.(Gln567*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740638C>T" "" "VUS" "" "0000336052" "0" "50" "X" "153006093" "153006093" "subst" "0" "01804" "ABCD1_000078" "g.153006093A>G" "" "" "" "ABCD1(NM_000033.3):c.1700A>G (p.Q567R, p.(Gln567Arg)), ABCD1(NM_000033.4):c.1700A>G (p.Q567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740639A>G" "" "VUS" "" "0000336053" "0" "30" "X" "153008970" "153008970" "subst" "0" "01804" "ABCD1_000085" "g.153008970C>T" "" "" "" "ABCD1(NM_000033.3):c.2019C>T (p.(Phe673=)), ABCD1(NM_000033.4):c.2019C>T (p.F673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743516C>T" "" "likely benign" "" "0000337265" "0" "70" "X" "152994682" "152994682" "subst" "0" "02327" "ABCD1_000104" "g.152994682C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153729227C>A" "" "likely pathogenic" "" "0000337266" "0" "50" "X" "153001908" "153001908" "subst" "1.12134E-5" "02327" "ABCD1_000073" "g.153001908C>T" "" "" "" "ABCD1(NM_000033.3):c.1334C>T (p.A445V), ABCD1(NM_000033.4):c.1334C>T (p.A445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736454C>T" "" "VUS" "" "0000337268" "0" "10" "X" "153009197" "153009197" "subst" "0" "02327" "ABCD1_000009" "g.153009197G>C" "" "" "" "ABCD1(NM_000033.4):c.*8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743743G>C" "" "benign" "" "0000337269" "0" "30" "X" "153009203" "153009203" "subst" "0" "02327" "ABCD1_000116" "g.153009203G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743749G>A" "" "likely benign" "" "0000339481" "0" "50" "X" "152991021" "152991021" "subst" "1.40933E-5" "02327" "ABCD1_000095" "g.152991021C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725566C>G" "" "VUS" "" "0000339482" "0" "10" "X" "153005605" "153005605" "subst" "0.0955799" "02327" "ABCD1_000001" "g.153005605G>A" "" "" "" "ABCD1(NM_000033.4):c.1548G>A (p.L516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740151G>A" "" "benign" "" "0000339483" "0" "10" "X" "153008970" "153008970" "subst" "0" "02327" "ABCD1_000085" "g.153008970C>T" "" "" "" "ABCD1(NM_000033.3):c.2019C>T (p.(Phe673=)), ABCD1(NM_000033.4):c.2019C>T (p.F673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743516C>T" "" "benign" "" "0000341167" "0" "50" "X" "152991143" "152991143" "subst" "0" "02327" "ABCD1_000097" "g.152991143C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725688C>A" "" "VUS" "" "0000341425" "0" "90" "X" "153001670" "153001670" "subst" "0" "02327" "ABCD1_000106" "g.153001670G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736216G>A" "" "pathogenic" "" "0000341522" "0" "90" "X" "153008506" "153008506" "subst" "0" "02327" "ABCD1_000113" "g.153008506G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743052G>A" "" "pathogenic" "" "0000341529" "0" "70" "X" "153008685" "153008685" "subst" "0" "02327" "ABCD1_000114" "g.153008685G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743231G>A" "" "likely pathogenic" "" "0000341789" "0" "50" "X" "152991080" "152991080" "subst" "0" "02327" "ABCD1_000096" "g.152991080G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725625G>A" "" "VUS" "" "0000342039" "0" "50" "X" "152991214" "152991214" "subst" "1.68406E-5" "02327" "ABCD1_000098" "g.152991214C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725759C>T" "" "VUS" "" "0000342523" "0" "50" "X" "152991559" "152991559" "subst" "0" "02327" "ABCD1_000101" "g.152991559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726104C>T" "" "VUS" "" "0000343044" "0" "70" "X" "153005609" "153005609" "subst" "0" "02327" "ABCD1_000112" "g.153005609C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153740155C>T" "" "likely pathogenic" "" "0000343225" "0" "90" "X" "153008787" "153008787" "subst" "0" "02327" "ABCD1_000053" "g.153008787C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743333C>T" "" "pathogenic" "" "0000343467" "0" "50" "X" "152990987" "152990987" "subst" "0" "02327" "ABCD1_000092" "g.152990987G>A" "" "" "" "ABCD1(NM_000033.4):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725532G>A" "" "VUS" "" "0000344608" "0" "90" "X" "152991250" "152991250" "subst" "0" "02327" "ABCD1_000099" "g.152991250C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725795C>T" "" "pathogenic" "" "0000345495" "0" "50" "X" "153008485" "153008485" "subst" "0" "02327" "ABCD1_000048" "g.153008485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743031G>A" "" "VUS" "" "0000345966" "0" "70" "X" "152991613" "152991613" "subst" "0" "02327" "ABCD1_000103" "g.152991613G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726158G>A" "" "likely pathogenic" "" "0000346439" "0" "50" "X" "152991569" "152991569" "subst" "0" "02327" "ABCD1_000102" "g.152991569A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726114A>G" "" "VUS" "" "0000346537" "0" "70" "X" "152991011" "152991011" "subst" "0" "02327" "ABCD1_000093" "g.152991011A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725556A>C" "" "likely pathogenic" "" "0000347680" "0" "90" "X" "152990722" "152990722" "subst" "0" "02327" "ABCD1_000089" "g.152990722A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725267A>G" "" "pathogenic" "" "0000348470" "0" "30" "X" "153002655" "153002655" "subst" "0" "02327" "ABCD1_000109" "g.153002655C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153737201C>A" "" "likely benign" "" "0000349228" "0" "70" "X" "152991014" "152991014" "subst" "0" "02327" "ABCD1_000094" "g.152991014C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725559C>G" "" "likely pathogenic" "" "0000349290" "0" "30" "X" "152990762" "152990762" "subst" "0.00036398" "02327" "ABCD1_000064" "g.152990762C>G" "" "" "" "ABCD1(NM_000033.3):c.41C>G (p.T14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725307C>G" "" "likely benign" "" "0000349487" "0" "50" "X" "153001640" "153001640" "subst" "0" "02327" "ABCD1_000105" "g.153001640A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153736186A>T" "" "VUS" "" "0000350640" "0" "30" "X" "152990929" "152990929" "subst" "0" "02327" "ABCD1_000091" "g.152990929G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725474G>C" "" "likely benign" "" "0000350942" "0" "30" "X" "153009196" "153009196" "subst" "0" "02327" "ABCD1_000115" "g.153009196C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153743742C>T" "" "likely benign" "" "0000405571" "0" "70" "X" "153006060" "153006060" "subst" "0" "01807" "ABCD1_000117" "g.153006060A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.153740606A>T" "" "likely pathogenic" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574314" "0" "50" "X" "152988711" "152988713" "del" "0" "01943" "BCAP31_000016" "g.152988711_152988713del" "" "" "" "BCAP31(NM_001139457.2):c.190_192delTCT (p.S65del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723256_153723258del" "" "VUS" "" "0000574315" "0" "30" "X" "152988981" "152988981" "subst" "0.000435993" "01943" "BCAP31_000010" "g.152988981G>A" "" "" "" "BCAP31(NM_001139457.2):c.139C>T (p.H47Y, p.(His47Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723526G>A" "" "likely benign" "" "0000574316" "0" "50" "X" "152990752" "152990752" "subst" "0" "01943" "BCAP31_000017" "g.152990752C>G" "" "" "" "ABCD1(NM_000033.3):c.31C>G (p.R11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725297C>G" "" "VUS" "" "0000574317" "0" "30" "X" "152990759" "152990759" "subst" "0.00203237" "02330" "BCAP31_000018" "g.152990759A>C" "" "" "" "ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725304A>C" "" "likely benign" "" "0000574318" "0" "30" "X" "152990759" "152990759" "subst" "0.00203237" "01943" "BCAP31_000018" "g.152990759A>C" "" "" "" "ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725304A>C" "" "likely benign" "" "0000574319" "0" "30" "X" "152990759" "152990759" "subst" "0.00203237" "01804" "BCAP31_000018" "g.152990759A>C" "" "" "" "ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725304A>C" "" "likely benign" "" "0000574320" "0" "30" "X" "152990759" "152990759" "subst" "0.00203237" "02325" "BCAP31_000018" "g.152990759A>C" "" "" "" "ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725304A>C" "" "likely benign" "" "0000574321" "0" "30" "X" "152991018" "152991018" "subst" "0" "01943" "BCAP31_000019" "g.152991018C>T" "" "" "" "ABCD1(NM_000033.3):c.297C>T (p.A99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725563C>T" "" "likely benign" "" "0000574322" "0" "90" "X" "152991058" "152991058" "subst" "6.32323E-6" "01943" "BCAP31_000020" "g.152991058C>T" "" "" "" "ABCD1(NM_000033.3):c.337C>T (p.R113C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725603C>T" "" "pathogenic" "" "0000574324" "0" "50" "X" "152991113" "152991113" "subst" "7.57722E-5" "01804" "ABCD1_000066" "g.152991113G>T" "" "" "" "ABCD1(NM_000033.3):c.392G>T (p.G131V, p.(Gly131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725658G>T" "" "VUS" "" "0000574325" "0" "90" "X" "152991175" "152991175" "subst" "0" "02327" "BCAP31_000021" "g.152991175C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725720C>T" "" "pathogenic" "" "0000574326" "0" "30" "X" "152991195" "152991195" "subst" "0" "01943" "BCAP31_000022" "g.152991195G>A" "" "" "" "ABCD1(NM_000033.3):c.474G>A (p.L158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725740G>A" "" "likely benign" "" "0000574327" "0" "30" "X" "152991196" "152991196" "subst" "5.62028E-6" "01943" "BCAP31_000023" "g.152991196G>A" "" "" "" "ABCD1(NM_000033.3):c.475G>A (p.A159T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725741G>A" "" "likely benign" "" "0000574328" "0" "90" "X" "152991380" "152991380" "subst" "0" "02327" "ABCD1_000043" "g.152991380T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725925T>C" "" "pathogenic" "" "0000574329" "0" "30" "X" "152991428" "152991428" "subst" "0.00140902" "02325" "BCAP31_000024" "g.152991428G>A" "" "" "" "ABCD1(NM_000033.3):c.707G>A (p.(Arg236His)), ABCD1(NM_000033.4):c.707G>A (p.R236H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725973G>A" "" "likely benign" "" "0000574330" "0" "50" "X" "152991617" "152991617" "subst" "0" "01943" "BCAP31_000025" "g.152991617A>G" "" "" "" "ABCD1(NM_000033.3):c.896A>G (p.H299R, p.(His299Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726162A>G" "" "VUS" "" "0000574331" "0" "30" "X" "152994671" "152994671" "subst" "0.00776529" "02330" "BCAP31_000026" "g.152994671C>T" "" "" "" "ABCD1(NM_000033.3):c.901-16C>T (p.(=)), ABCD1(NM_000033.4):c.901-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153729216C>T" "" "likely benign" "" "0000574332" "0" "30" "X" "152994671" "152994671" "subst" "0.00776529" "01804" "BCAP31_000026" "g.152994671C>T" "" "" "" "ABCD1(NM_000033.3):c.901-16C>T (p.(=)), ABCD1(NM_000033.4):c.901-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153729216C>T" "" "likely benign" "" "0000574333" "0" "30" "X" "152994833" "152994833" "subst" "0.000930587" "01804" "BCAP31_000027" "g.152994833C>A" "" "" "" "ABCD1(NM_000033.3):c.1047C>A (p.(Val349=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153729378C>A" "" "likely benign" "" "0000574334" "0" "50" "X" "153001546" "153001546" "subst" "0" "01804" "ABCD1_000118" "g.153001546A>C" "" "" "" "ABCD1(NM_000033.3):c.1082-20A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736092A>C" "" "VUS" "" "0000574335" "0" "30" "X" "153001601" "153001601" "subst" "8.40916E-5" "01943" "ABCD1_000119" "g.153001601A>G" "" "" "" "ABCD1(NM_000033.3):c.1117A>G (p.K373E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736147A>G" "" "likely benign" "" "0000574336" "0" "30" "X" "153001611" "153001611" "subst" "0" "01804" "ABCD1_000120" "g.153001611A>C" "" "" "" "ABCD1(NM_000033.3):c.1127A>C (p.(Glu376Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736157A>C" "" "likely benign" "" "0000574337" "0" "90" "X" "153001650" "153001650" "subst" "0" "02325" "ABCD1_000046" "g.153001650G>A" "" "" "" "ABCD1(NM_000033.4):c.1166G>A (p.R389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736196G>A" "" "pathogenic" "" "0000574338" "0" "50" "X" "153001908" "153001908" "subst" "1.12134E-5" "01943" "ABCD1_000073" "g.153001908C>T" "" "" "" "ABCD1(NM_000033.3):c.1334C>T (p.A445V), ABCD1(NM_000033.4):c.1334C>T (p.A445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736454C>T" "" "VUS" "" "0000574339" "0" "30" "X" "153005540" "153005540" "del" "0" "02330" "ABCD1_000111" "g.153005540del" "" "" "" "ABCD1(NM_000033.3):c.1489-6del (p.(=)), ABCD1(NM_000033.3):c.1489-7delC, ABCD1(NM_000033.4):c.1489-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740086del" "" "likely benign" "" "0000574340" "0" "50" "X" "153006093" "153006093" "subst" "0" "01943" "ABCD1_000078" "g.153006093A>G" "" "" "" "ABCD1(NM_000033.3):c.1700A>G (p.Q567R, p.(Gln567Arg)), ABCD1(NM_000033.4):c.1700A>G (p.Q567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740639A>G" "" "VUS" "" "0000574341" "0" "30" "X" "153006093" "153006093" "subst" "0" "02325" "ABCD1_000078" "g.153006093A>G" "" "" "" "ABCD1(NM_000033.3):c.1700A>G (p.Q567R, p.(Gln567Arg)), ABCD1(NM_000033.4):c.1700A>G (p.Q567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740639A>G" "" "likely benign" "" "0000574342" "0" "30" "X" "153008757" "153008757" "subst" "0" "01943" "ABCD1_000121" "g.153008757G>A" "" "" "" "ABCD1(NM_000033.3):c.1948G>A (p.A650T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153743303G>A" "" "likely benign" "" "0000574344" "0" "30" "X" "153009152" "153009152" "subst" "0" "01804" "ABCD1_000123" "g.153009152C>T" "" "" "" "ABCD1(NM_000033.3):c.2201C>T (p.(Pro734Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153743698C>T" "" "likely benign" "" "0000619169" "0" "30" "X" "152986328" "152986328" "subst" "0.000826823" "01943" "BCAP31_000031" "g.152986328G>A" "" "" "" "BCAP31(NM_001139457.2):c.393C>T (p.I131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153720873G>A" "" "likely benign" "" "0000619170" "0" "30" "X" "152988604" "152988604" "subst" "5.64525E-5" "01943" "BCAP31_000032" "g.152988604A>G" "" "" "" "BCAP31(NM_001139457.2):c.293+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723149A>G" "" "likely benign" "" "0000619171" "0" "30" "X" "152988711" "152988713" "del" "0" "02325" "BCAP31_000016" "g.152988711_152988713del" "" "" "" "BCAP31(NM_001139457.2):c.190_192delTCT (p.S65del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153723256_153723258del" "" "likely benign" "" "0000619172" "0" "90" "X" "152991035" "152991035" "subst" "0" "02327" "BCAP31_000033" "g.152991035C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725580C>T" "" "pathogenic" "" "0000619173" "0" "30" "X" "152991282" "152991282" "subst" "1.12238E-5" "01943" "BCAP31_000034" "g.152991282C>T" "" "" "" "ABCD1(NM_000033.3):c.561C>T (p.D187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725827C>T" "" "likely benign" "" "0000619174" "0" "50" "X" "153001908" "153001908" "subst" "1.12134E-5" "02325" "ABCD1_000073" "g.153001908C>T" "" "" "" "ABCD1(NM_000033.3):c.1334C>T (p.A445V), ABCD1(NM_000033.4):c.1334C>T (p.A445V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153736454C>T" "" "VUS" "" "0000619175" "0" "50" "X" "153006041" "153006041" "subst" "0" "01804" "ABCD1_000124" "g.153006041G>A" "" "" "" "ABCD1(NM_000033.3):c.1648G>A (p.(Val550Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740587G>A" "" "VUS" "" "0000619176" "0" "50" "X" "153006054" "153006054" "subst" "0" "01804" "ABCD1_000062" "g.153006054G>A" "" "" "" "ABCD1(NM_000033.3):c.1661G>A (p.(Arg554His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740600G>A" "" "VUS" "" "0000624487" "0" "30" "X" "152991478" "152991478" "subst" "0.000815887" "02325" "ABCD1_000069" "g.152991478C>G" "" "" "" "ABCD1(NM_000033.3):c.757C>G (p.L253V, p.(Leu253Val)), ABCD1(NM_000033.4):c.757C>G (p.L253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153726023C>G" "" "likely benign" "" "0000626456" "0" "50" "X" "153008513" "153008513" "subst" "0" "01807" "ABCD1_000125" "g.153008513T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.153743059T>C" "" "VUS" "" "0000652819" "1" "90" "X" "153001862" "153001862" "subst" "0" "03575" "ABCD1_000126" "g.153001862C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044726}" "Germline" "" "rs797044726" "0" "" "" "g.153736408C>T" "" "pathogenic" "" "0000653269" "1" "70" "X" "153001938" "153001938" "dup" "0" "03575" "ABCD1_000127" "g.153001938dup" "1/2775 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922093}\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs193922093" "0" "" "" "g.153736486dup" "" "likely pathogenic" "" "0000653354" "0" "90" "X" "153002632" "153002633" "del" "0" "01164" "ABCD1_000008" "g.153002632_153002633del" "" "" "" "" "ACMG: PVS1,PM2,PP5; Kemp et al. 1994. Biochem Biophys Res Commun 202: 647; Brownstone et al. 2013. Gene 513: 71; Finsterer et al. 2013. Gene 530: 155" "Germline" "" "rs387906494" "0" "" "" "g.153737178_153737179del" "" "pathogenic" "ACMG" "0000659152" "0" "90" "X" "152991286" "152991286" "del" "0" "02325" "BCAP31_000037" "g.152991286del" "" "" "" "ABCD1(NM_000033.4):c.565delC (p.R189Gfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153725831del" "" "pathogenic" "" "0000659153" "0" "30" "X" "153006076" "153006076" "subst" "0" "01943" "ABCD1_000076" "g.153006076C>T" "" "" "" "ABCD1(NM_000033.3):c.1683C>T (p.D561=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153740622C>T" "" "likely benign" "" "0000682209" "0" "30" "X" "152990761" "152990761" "subst" "7.29253E-5" "01943" "ABCD1_000063" "g.152990761A>G" "" "" "" "ABCD1(NM_000033.3):c.40A>G (p.T14A, p.(Thr14Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682210" "0" "30" "X" "152990762" "152990762" "subst" "0.00036398" "01943" "ABCD1_000064" "g.152990762C>G" "" "" "" "ABCD1(NM_000033.3):c.41C>G (p.T14R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682211" "0" "30" "X" "152990970" "152990970" "subst" "0.000403045" "01943" "ABCD1_000128" "g.152990970C>T" "" "" "" "ABCD1(NM_000033.3):c.249C>T (p.F83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682212" "0" "50" "X" "152991463" "152991463" "subst" "3.48127E-5" "01943" "ABCD1_000129" "g.152991463G>A" "" "" "" "ABCD1(NM_000033.3):c.742G>A (p.G248S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682213" "0" "90" "X" "153006074" "153006074" "del" "0" "02325" "ABCD1_000130" "g.153006074del" "" "" "" "ABCD1(NM_000033.4):c.1681delG (p.D561Tfs*75)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682214" "0" "30" "X" "153008723" "153008723" "subst" "0" "01943" "ABCD1_000131" "g.153008723C>T" "" "" "" "ABCD1(NM_000033.3):c.1914C>T (p.D638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693426" "0" "30" "X" "152990757" "152990757" "subst" "0" "01943" "ABCD1_000133" "g.152990757G>A" "" "" "" "ABCD1(NM_000033.3):c.36G>A (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693427" "0" "90" "X" "152991564" "152991564" "subst" "0" "02327" "ABCD1_000134" "g.152991564C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728563" "0" "30" "X" "152990979" "152990979" "subst" "0.000863491" "01943" "ABCD1_000135" "g.152990979C>T" "" "" "" "ABCD1(NM_000033.3):c.258C>T (p.V86=, p.(Val86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728564" "0" "70" "X" "152991167" "152991167" "subst" "0" "02327" "ABCD1_000057" "g.152991167G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728565" "0" "50" "X" "152991425" "152991425" "subst" "0" "02327" "ABCD1_000136" "g.152991425C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728566" "0" "50" "X" "152991452" "152991452" "subst" "1.15505E-5" "01943" "ABCD1_000137" "g.152991452C>T" "" "" "" "ABCD1(NM_000033.3):c.731C>T (p.S244L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728567" "0" "90" "X" "152991572" "152991572" "subst" "0" "02327" "ABCD1_000138" "g.152991572C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728568" "0" "30" "X" "153005638" "153005638" "subst" "0.000196645" "01943" "ABCD1_000139" "g.153005638C>T" "" "" "" "ABCD1(NM_000033.3):c.1581C>T (p.Y527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728569" "0" "50" "X" "153008983" "153008983" "subst" "0" "02329" "ABCD1_000122" "g.153008983G>T" "" "" "" "ABCD1(NM_000033.3):c.2032G>T (p.G678C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728570" "0" "30" "X" "153009141" "153009141" "subst" "0" "01943" "ABCD1_000132" "g.153009141G>A" "" "" "" "ABCD1(NM_000033.3):c.2190G>A (p.P730=, p.(Pro730=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000759809" "0" "90" "X" "152991263" "152991263" "subst" "0" "03566" "ABCD1_000140" "g.152991263A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153725808A>G" "" "pathogenic" "" "0000786719" "0" "70" "X" "152991164" "152991164" "subst" "0" "00006" "ABCD1_000141" "g.152991164A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153725709A>G" "" "likely pathogenic" "" "0000786720" "0" "90" "X" "152991180" "152991180" "subst" "0" "00006" "ABCD1_000142" "g.152991180C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153725725C>A" "" "pathogenic" "" "0000786721" "0" "70" "X" "152991433" "152991433" "del" "0" "00006" "ABCD1_000143" "g.152991433del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.712delG" "" "Germline" "" "" "0" "" "" "g.153725978del" "" "likely pathogenic" "" "0000786722" "0" "90" "X" "152991517" "152991517" "subst" "0" "00006" "ABCD1_000045" "g.152991517G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153726062G>A" "" "pathogenic" "" "0000786723" "0" "90" "X" "152994686" "152994686" "subst" "0" "00006" "ABCD1_000144" "g.152994686G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.153729231G>A" "" "pathogenic" "" "0000795614" "21" "70" "X" "153008473" "153008473" "subst" "0" "00000" "ABCD1_000145" "g.153008473C>G" "" "{PMID:Nair 2018:30293248}" "" "error in amino acid consequence, published as NM_000033.3:c.1813C>G; p.Leu605Arg" "" "Unknown" "?" "" "0" "" "" "g.153743019C>G" "" "likely pathogenic" "" "0000810054" "0" "50" "X" "152991293" "152991293" "subst" "1.1231E-5" "01943" "ABCD1_000146" "g.152991293G>A" "" "" "" "ABCD1(NM_000033.3):c.572G>A (p.R191H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810055" "0" "50" "X" "152991541" "152991541" "subst" "0" "02327" "ABCD1_000147" "g.152991541C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810056" "0" "30" "X" "152994833" "152994833" "subst" "0" "01943" "ABCD1_000148" "g.152994833C>T" "" "" "" "ABCD1(NM_000033.3):c.1047C>T (p.V349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810057" "0" "30" "X" "153008470" "153008470" "subst" "0" "01943" "ABCD1_000149" "g.153008470G>A" "" "" "" "ABCD1(NM_000033.3):c.1810G>A (p.V604I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810058" "0" "30" "X" "153008729" "153008729" "subst" "0" "01943" "ABCD1_000150" "g.153008729A>G" "" "" "" "ABCD1(NM_000033.3):c.1920A>G (p.E640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810059" "0" "30" "X" "153009133" "153009133" "subst" "0" "01943" "ABCD1_000151" "g.153009133C>A" "" "" "" "ABCD1(NM_000033.3):c.2182C>A (p.H728N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856418" "0" "30" "X" "153002621" "153002621" "subst" "1.12565E-5" "01943" "ABCD1_000155" "g.153002621G>A" "" "" "" "ABCD1(NM_000033.3):c.1404G>A (p.V468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856419" "0" "30" "X" "153005540" "153005540" "del" "0" "01804" "ABCD1_000075" "g.153005540del" "" "" "" "ABCD1(NM_000033.3):c.1489-6del (p.(=)), ABCD1(NM_000033.3):c.1489-7delC, ABCD1(NM_000033.4):c.1489-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856420" "0" "50" "X" "153008491" "153008491" "del" "0" "01943" "ABCD1_000159" "g.153008491del" "" "" "" "ABCD1(NM_000033.3):c.1831delC (p.Q611Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867161" "0" "30" "X" "152990837" "152990837" "subst" "0" "01943" "ABCD1_000152" "g.152990837G>T" "" "" "" "ABCD1(NM_000033.3):c.116G>T (p.C39F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867162" "0" "30" "X" "152990979" "152990979" "subst" "0.000863491" "01804" "ABCD1_000135" "g.152990979C>T" "" "" "" "ABCD1(NM_000033.3):c.258C>T (p.V86=, p.(Val86=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867163" "0" "50" "X" "152991428" "152991428" "subst" "0.00140902" "01804" "BCAP31_000024" "g.152991428G>A" "" "" "" "ABCD1(NM_000033.3):c.707G>A (p.(Arg236His)), ABCD1(NM_000033.4):c.707G>A (p.R236H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867164" "0" "70" "X" "152991517" "152991517" "subst" "0" "02327" "ABCD1_000045" "g.152991517G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867165" "0" "30" "X" "152994677" "152994677" "subst" "0.00339836" "01804" "ABCD1_000153" "g.152994677C>T" "" "" "" "ABCD1(NM_000033.3):c.901-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867166" "0" "30" "X" "153001551" "153001551" "subst" "0" "01804" "ABCD1_000154" "g.153001551T>C" "" "" "" "ABCD1(NM_000033.3):c.1082-15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867167" "0" "50" "X" "153002672" "153002672" "subst" "2.2621E-5" "01943" "ABCD1_000156" "g.153002672A>C" "" "" "" "ABCD1(NM_000033.3):c.1455A>C (p.S485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867168" "0" "50" "X" "153005681" "153005681" "subst" "0" "01943" "ABCD1_000157" "g.153005681A>G" "" "" "" "ABCD1(NM_000033.3):c.1624A>G (p.I542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867169" "0" "50" "X" "153006137" "153006137" "subst" "0" "01804" "ABCD1_000079" "g.153006137G>A" "" "" "" "ABCD1(NM_000033.3):c.1744G>A (p.(Val582Ile)), ABCD1(NM_000033.4):c.1744G>A (p.V582I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867170" "0" "70" "X" "153006140" "153006140" "subst" "0" "02327" "ABCD1_000158" "g.153006140G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867171" "0" "50" "X" "153006141" "153006141" "subst" "0" "01804" "ABCD1_000080" "g.153006141T>A" "" "" "" "ABCD1(NM_000033.3):c.1748T>A (p.(Val583Glu)), ABCD1(NM_000033.4):c.1748T>A (p.V583E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878557" "21" "50" "X" "153008665" "153008665" "subst" "0" "01864" "ABCD1_000160" "g.153008665G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153743211G>A" "" "VUS" "ACMG" "0000879979" "0" "50" "X" "152991624" "152991624" "subst" "0" "00006" "ABCD1_000161" "g.152991624G>C" "" "{PMID:He 2022:35121647}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.153726169G>C" "" "VUS" "ACMG" "0000880724" "0" "90" "X" "152994662" "152994678" "del" "0" "04399" "ABCD1_000162" "g.152994662_152994678del" "" "Feixia zheng 2022, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.153729207_153729223del" "" "VUS" "ACMG" "0000881120" "0" "90" "X" "153001964" "153001964" "subst" "0" "02300" "ABCD1_000163" "g.153001964C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "rs128624221" "0" "" "" "g.153736510C>T" "" "pathogenic (recessive)" "ACMG" "0000895979" "0" "70" "X" "152991601" "152991601" "subst" "0" "02325" "ABCD1_000165" "g.152991601G>A" "" "" "" "ABCD1(NM_000033.4):c.880G>A (p.A294T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895980" "0" "30" "X" "153001547" "153001547" "subst" "0.000466976" "01804" "ABCD1_000166" "g.153001547C>G" "" "" "" "ABCD1(NM_000033.3):c.1082-19C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895981" "0" "90" "X" "153001709" "153001709" "subst" "0" "02327" "ABCD1_000167" "g.153001709G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895982" "0" "30" "X" "153009141" "153009141" "subst" "0" "01804" "ABCD1_000132" "g.153009141G>A" "" "" "" "ABCD1(NM_000033.3):c.2190G>A (p.P730=, p.(Pro730=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915627" "0" "30" "X" "152991160" "152991160" "subst" "1.13327E-5" "01804" "ABCD1_000168" "g.152991160G>A" "" "" "" "ABCD1(NM_000033.3):c.439G>A (p.(Val147Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915628" "0" "70" "X" "152991421" "152991421" "subst" "0" "02327" "ABCD1_000169" "g.152991421C>T" "" "" "" "ABCD1(NM_000033.4):c.700C>T (p.R234C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915629" "0" "70" "X" "152991421" "152991421" "subst" "0" "02329" "ABCD1_000169" "g.152991421C>T" "" "" "" "ABCD1(NM_000033.4):c.700C>T (p.R234C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915630" "0" "10" "X" "153005605" "153005605" "subst" "0.0955799" "02329" "ABCD1_000001" "g.153005605G>A" "" "" "" "ABCD1(NM_000033.4):c.1548G>A (p.L516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915631" "0" "50" "X" "153008688" "153008688" "subst" "0" "02327" "ABCD1_000170" "g.153008688C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927274" "0" "10" "X" "153006093" "153006093" "subst" "0" "02329" "ABCD1_000078" "g.153006093A>G" "" "" "" "ABCD1(NM_000033.3):c.1700A>G (p.Q567R, p.(Gln567Arg)), ABCD1(NM_000033.4):c.1700A>G (p.Q567R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927275" "0" "10" "X" "153006137" "153006137" "subst" "0" "02329" "ABCD1_000079" "g.153006137G>A" "" "" "" "ABCD1(NM_000033.3):c.1744G>A (p.(Val582Ile)), ABCD1(NM_000033.4):c.1744G>A (p.V582I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927276" "0" "10" "X" "153006141" "153006141" "subst" "0" "02329" "ABCD1_000080" "g.153006141T>A" "" "" "" "ABCD1(NM_000033.3):c.1748T>A (p.(Val583Glu)), ABCD1(NM_000033.4):c.1748T>A (p.V583E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951700" "0" "30" "X" "152990759" "152990759" "subst" "0.00203237" "02326" "BCAP31_000018" "g.152990759A>C" "" "" "" "ABCD1(NM_000033.3):c.38A>C (p.N13T, p.(Asn13Thr)), ABCD1(NM_000033.4):c.38A>C (p.N13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951701" "0" "30" "X" "152990995" "152990995" "subst" "0.000116749" "02327" "ABCD1_000171" "g.152990995G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952597" "20" "50" "X" "153009139" "153009139" "subst" "0" "00006" "ABCD1_000172" "g.153009139C>T" "" "{PMID:Sarker 2023:38057384}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.153743685C>T" "" "VUS" "" "0000954267" "21" "70" "X" "152991031" "152991031" "subst" "0" "00006" "ABCD1_000054" "g.152991031C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153725576C>T" "" "likely pathogenic" "ACMG" "0000954268" "21" "90" "X" "153005609" "153005609" "subst" "0" "00006" "ABCD1_000112" "g.153005609C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153740155C>T" "" "pathogenic" "ACMG" "0000954269" "21" "70" "X" "153005604" "153005604" "subst" "0" "00006" "ABCD1_000174" "g.153005604T>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153740150T>C" "" "likely pathogenic" "ACMG" "0000954270" "21" "90" "X" "153008510" "153008510" "subst" "0" "00006" "ABCD1_000176" "g.153008510G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153743056G>A" "" "pathogenic" "ACMG" "0000954271" "21" "90" "X" "152991014" "152991014" "subst" "0" "00006" "ABCD1_000173" "g.152991014C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153725559C>T" "" "pathogenic" "ACMG" "0000954272" "21" "90" "X" "153005609" "153005609" "subst" "0" "00006" "ABCD1_000112" "g.153005609C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153740155C>T" "" "pathogenic" "ACMG" "0000954273" "21" "50" "X" "153008665" "153008665" "subst" "0" "00006" "ABCD1_000160" "g.153008665G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153743211G>A" "" "VUS" "ACMG" "0000954274" "21" "70" "X" "153005616" "153005616" "subst" "0" "00006" "ABCD1_000175" "g.153005616T>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.153740162T>C" "" "likely pathogenic" "ACMG" "0000970857" "0" "50" "X" "152990987" "152990987" "subst" "0" "02325" "ABCD1_000092" "g.152990987G>A" "" "" "" "ABCD1(NM_000033.4):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970859" "0" "30" "X" "152991478" "152991478" "subst" "0.000815887" "02326" "ABCD1_000069" "g.152991478C>G" "" "" "" "ABCD1(NM_000033.3):c.757C>G (p.L253V, p.(Leu253Val)), ABCD1(NM_000033.4):c.757C>G (p.L253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970860" "0" "30" "X" "152991616" "152991616" "subst" "9.85934E-5" "02325" "ABCD1_000177" "g.152991616C>T" "" "" "" "ABCD1(NM_000033.4):c.895C>T (p.H299Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970861" "0" "90" "X" "153001939" "153001945" "del" "0" "02329" "ABCD1_000178" "g.153001939_153001945del" "" "" "" "ABCD1(NM_000033.4):c.1365_1371delCCGTGTG (p.V457Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970862" "0" "30" "X" "153005540" "153005540" "del" "0" "02326" "ABCD1_000075" "g.153005540del" "" "" "" "ABCD1(NM_000033.3):c.1489-6del (p.(=)), ABCD1(NM_000033.3):c.1489-7delC, ABCD1(NM_000033.4):c.1489-7delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984917" "21" "30" "X" "153002664" "153002664" "subst" "0" "00006" "ABCD1_000179" "g.153002664A>G" "" "{PMID:Pan 2024:38479391}, {DOI:Pan 2024:10.1016/j.ajhg.2024.02.007}" "" "" "" "Germline" "" "" "0" "" "" "g.153737210A>G" "" "likely benign" "" "0001006524" "0" "30" "X" "152990899" "152990899" "subst" "0" "01804" "ABCD1_000180" "g.152990899G>C" "" "" "" "ABCD1(NM_000033.3):c.178G>C (p.(Val60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006525" "0" "30" "X" "152991077" "152991077" "subst" "0" "01804" "ABCD1_000181" "g.152991077C>T" "" "" "" "ABCD1(NM_000033.3):c.356C>T (p.(Ala119Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006526" "0" "50" "X" "152991617" "152991617" "subst" "0" "01804" "BCAP31_000025" "g.152991617A>G" "" "" "" "ABCD1(NM_000033.3):c.896A>G (p.H299R, p.(His299Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006527" "0" "50" "X" "153001835" "153001835" "subst" "5.59885E-6" "01804" "ABCD1_000072" "g.153001835G>A" "" "" "" "ABCD1(NM_000033.3):c.1261G>A (p.E421K, p.(Glu421Lys)), ABCD1(NM_000033.4):c.1261G>A (p.E421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015997" "0" "30" "X" "153006073" "153006073" "subst" "0" "01804" "ABCD1_000182" "g.153006073G>A" "" "" "" "ABCD1(NM_000033.3):c.1680G>A (p.(Pro560=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044183" "0" "30" "X" "152991417" "152991417" "subst" "0.00145739" "01804" "ABCD1_000183" "g.152991417G>T" "" "" "" "ABCD1(NM_000033.3):c.696G>T (p.(Ala232=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045275" "0" "70" "X" "153008675" "153008675" "subst" "0" "03779" "ABCD1_000184" "g.153008675G>T" "" "" "" "" "" "Unknown" "" "rs201197921" "0" "" "" "" "" "likely pathogenic" "" "0001046843" "0" "10" "X" "153008911" "153008911" "subst" "0" "02326" "ABCD1_000006" "g.153008911C>T" "" "" "" "ABCD1(NM_000033.4):c.1992-32C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046844" "0" "10" "X" "153009197" "153009197" "subst" "0" "02326" "ABCD1_000009" "g.153009197G>C" "" "" "" "ABCD1(NM_000033.4):c.*8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 ABCD1 ## Count = 275 "{{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}}" "0000002218" "00000390" "50" "2793" "0" "2799" "0" "c.*555_*561del" "r.(=)" "p.(=)" "" "0000003322" "00000390" "50" "3049" "0" "3052" "0" "c.*811_*814dup" "r.(=)" "p.(=)" "" "0000008014" "00000390" "50" "1992" "-32" "1992" "-32" "c.1992-32C>T" "r.(=)" "p.(=)" "" "0000008015" "00000390" "50" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "" "0000008016" "00000390" "50" "2768" "0" "2768" "0" "c.*530G>A" "r.(=)" "p.(=)" "" "0000008017" "00000390" "50" "2925" "0" "2925" "0" "c.*687G>C" "r.(=)" "p.(=)" "" "0000008018" "00000390" "50" "3108" "0" "3108" "0" "c.*870G>T" "r.(=)" "p.(=)" "" "0000008019" "00000390" "50" "3115" "0" "3115" "0" "c.*877C>T" "r.(=)" "p.(=)" "" "0000010173" "00000390" "50" "1780" "168" "1780" "169" "c.1780+168_1780+169insGCATGGGTG" "r.(=)" "p.(=)" "" "0000010174" "00000390" "50" "1781" "-150" "1781" "-150" "c.1781-150A>G" "r.(=)" "p.(=)" "" "0000010175" "00000390" "50" "1816" "0" "1816" "0" "c.1816T>C" "r.(?)" "p.(Ser606Pro)" "" "0000010176" "00000390" "50" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Gly608Asp)" "" "0000010177" "00000390" "50" "1992" "-32" "1992" "-32" "c.1992-32C>T" "r.(=)" "p.(=)" "" "0000010178" "00000390" "50" "2537" "0" "2537" "0" "c.*299C>T" "r.(=)" "p.(=)" "" "0000010179" "00000390" "50" "2719" "0" "2719" "0" "c.*481G>T" "r.(=)" "p.(=)" "" "0000010180" "00000390" "50" "2768" "0" "2768" "0" "c.*530G>A" "r.(=)" "p.(=)" "" "0000010181" "00000390" "50" "2793" "0" "2799" "0" "c.*555_*561del" "r.(=)" "p.(=)" "" "0000010182" "00000390" "50" "2925" "0" "2925" "0" "c.*687G>C" "r.(=)" "p.(=)" "" "0000010183" "00000390" "50" "3108" "0" "3108" "0" "c.*870G>T" "r.(=)" "p.(=)" "" "0000010184" "00000390" "50" "3115" "0" "3115" "0" "c.*877C>T" "r.(=)" "p.(=)" "" "0000010185" "00000390" "50" "3132" "0" "3132" "0" "c.*894G>A" "r.(=)" "p.(=)" "" "0000010186" "00000390" "50" "3139" "0" "3139" "0" "c.*901G>A" "r.(=)" "p.(=)" "" "0000010187" "00000390" "50" "3141" "0" "3141" "0" "c.*903G>A" "r.(=)" "p.(=)" "" "0000011308" "00000390" "50" "3049" "0" "3052" "0" "c.*811_*814dup" "r.(=)" "p.(=)" "" "0000015981" "00000390" "30" "1489" "-12" "1489" "-12" "c.1489-12T>G" "r.(?)" "p.(=)" "5i" "0000015983" "00000390" "50" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "" "0000015985" "00000390" "50" "2714" "0" "2714" "0" "c.*476A>G" "r.(=)" "p.(=)" "" "0000015988" "00000390" "50" "2867" "0" "2867" "0" "c.*629A>G" "r.(=)" "p.(=)" "" "0000015989" "00000390" "50" "2887" "0" "2887" "0" "c.*649C>A" "r.(=)" "p.(=)" "" "0000081524" "00000390" "90" "1081" "1375" "24999" "0" "c.1081+1375_*22761del" "r.?" "p.?" "2i_10_" "0000081735" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.(?)" "p.(Pro484Arg)" "5" "0000081736" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.(?)" "p.(Pro484Arg)" "5" "0000081737" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.1451c>g" "p.Pro484Arg" "5" "0000081738" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.(?)" "p.(Pro484Arg)" "5" "0000081739" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.(?)" "p.(Pro484Arg)" "5" "0000081740" "00000390" "90" "1451" "0" "1451" "0" "c.1451C>G" "r.(?)" "p.(Pro484Arg)" "5" "0000081741" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081742" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081743" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081744" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081745" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.(?)" "p.(Gln472Argfs*83)" "5" "0000081746" "00000390" "30" "1548" "0" "1548" "0" "c.1548G>A" "r.(=)" "p.(=)" "6" "0000081747" "00000390" "30" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "10" "0000081760" "00000390" "50" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Leu516=)" "6" "0000081769" "00000390" "90" "1635" "-2" "1635" "-2" "c.1635-2A>G" "r.1635_1668del" "p.Pro546*" "6i" "0000081770" "00000390" "90" "57" "0" "57" "0" "c.57del" "r.57del" "p.Val20Cysfs*48" "1" "0000081771" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081772" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081773" "00000390" "90" "1826" "0" "1826" "0" "c.1826A>G" "r.1826a>g" "p.Glu609Gly" "8" "0000081774" "00000390" "90" "1970" "0" "1972" "0" "c.1970_1972del" "r.1970_1972del" "p.Ile657del" "9" "0000081775" "00000390" "90" "659" "0" "659" "0" "c.659T>C" "r.659u>c" "p.Leu220Pro" "1" "0000081776" "00000390" "90" "446" "0" "446" "0" "c.446G>A" "r.446g>a" "p.Ser149Asn" "1" "0000081777" "00000390" "90" "469" "0" "469" "0" "c.469C>T" "r.469c>u" "p.Gln157*" "1" "0000081778" "00000390" "90" "411" "0" "411" "0" "c.411G>A" "r.411g>a" "p.Trp137*" "1" "0000081779" "00000390" "90" "1601" "0" "1991" "1" "c.1601_(1991+1_1992-1)delins(?)" "r.1601_1991delins88" "p.?" "6_9i" "0000081780" "00000390" "90" "580" "0" "580" "0" "c.580G>C" "r.580g>c" "p.Asp194His" "1" "0000081781" "00000390" "90" "1825" "0" "1825" "0" "c.1825G>A" "r.1825g>a" "p.Glu609Lys" "8" "0000081782" "00000390" "90" "488" "0" "488" "0" "c.488G>A" "r.488g>a" "p.Arg163His" "1" "0000081783" "00000390" "90" "543" "0" "543" "0" "c.543C>A" "r.543c>a" "p.Tyr181*" "1" "0000081784" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081785" "00000390" "90" "310" "0" "310" "0" "c.310C>T" "r.310c>u" "p.Arg104Cys" "1" "0000081786" "00000390" "90" "1825" "0" "1825" "0" "c.1825G>A" "r.1825g>a" "p.Glu609Lys" "8" "0000081787" "00000390" "90" "1866" "-10" "1866" "-10" "c.1866-10A>G" "r.1865_1866ins1866-8_1866-1" "p.?" "8i" "0000081788" "00000390" "90" "1166" "0" "1166" "0" "c.1166G>A" "r.1166g>a" "p.Arg389His" "3" "0000081789" "00000390" "90" "1978" "0" "1978" "0" "c.1978C>T" "r.1978c>u" "p.Arg660Trp" "9" "0000081790" "00000390" "90" "277" "0" "277" "0" "c.277del" "r.277del" "p.Leu93Cysfs*10" "1" "0000081791" "00000390" "90" "1849" "0" "1849" "0" "c.1849C>T" "r.1849c>u" "p.Arg617Cys" "8" "0000081792" "00000390" "90" "796" "0" "796" "0" "c.796G>A" "r.796g>a" "p.Gly266Arg" "1" "0000081793" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.1415_1416del" "p.Gln472Argfs*83" "5" "0000081794" "00000390" "90" "397" "0" "397" "0" "c.397C>T" "r.397c>u" "p.Gln133*" "1" "0000081795" "00000390" "90" "455" "0" "455" "0" "c.455G>C" "r.455g>c" "p.Arg152Pro" "1" "0000081796" "00000390" "90" "785" "0" "791" "0" "c.785_791del" "r.785_791del" "p.Ser262Cysfs*72" "1" "0000081800" "00000390" "90" "1082" "-1" "1393" "1" "c.(1081+1_1082-1)_(1393+1_1394-1)del" "r.?" "p.?" "2i_5i" "0000081801" "00000390" "90" "1082" "-1" "1393" "1" "c.(1081+1_1082-1)_(1393+1_1394-1)del" "r.?" "p.?" "2i_5i" "0000140365" "00000390" "90" "1961" "0" "1961" "0" "c.1961T>C" "r.(?)" "p.(Leu654Pro)" "9" "0000140400" "00000390" "90" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "6" "0000145975" "00000390" "90" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554His)" "7" "0000257041" "00000390" "10" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "" "0000257042" "00000390" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Leu516=)" "" "0000257043" "00000390" "50" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000257044" "00000390" "10" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Val583Glu)" "" "0000257045" "00000390" "10" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Phe673=)" "" "0000258705" "00000390" "10" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000258706" "00000390" "10" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Val583Glu)" "" "0000259380" "00000390" "30" "1781" "-7" "1781" "-7" "c.1781-7C>T" "r.(=)" "p.(=)" "" "0000259381" "00000390" "30" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Gly608Asp)" "" "0000259607" "00000390" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "" "0000259608" "00000390" "50" "1816" "0" "1816" "0" "c.1816T>C" "r.(?)" "p.(Ser606Pro)" "" "0000259851" "00000390" "50" "1842" "0" "1842" "0" "c.1842C>T" "r.(?)" "p.(Gly614=)" "" "0000260473" "00000390" "30" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Val583Glu)" "" "0000260474" "00000390" "30" "2033" "0" "2033" "0" "c.2033G>A" "r.(?)" "p.(Gly678Asp)" "" "0000261711" "00000390" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "" "0000261712" "00000390" "30" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Arg456His)" "" "0000261713" "00000390" "30" "1489" "-6" "1489" "-6" "c.1489-6del" "r.(=)" "p.(=)" "" "0000261714" "00000390" "50" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Gln567Ter)" "" "0000261715" "00000390" "30" "1899" "0" "1899" "0" "c.1899C>T" "r.(?)" "p.(Ser633=)" "" "0000261716" "00000390" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Ile637=)" "" "0000261717" "00000390" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Cys)" "" "0000261718" "00000390" "30" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Ala704=)" "" "0000261719" "00000390" "30" "366" "0" "366" "0" "c.366C>A" "r.(?)" "p.(Ile122=)" "" "0000261720" "00000390" "30" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "" "0000261721" "00000390" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Arg)" "" "0000261722" "00000390" "30" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000261723" "00000390" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(His283=)" "" "0000336040" "00000390" "50" "-4318" "0" "-4318" "0" "c.-4318C>T" "r.(?)" "p.(=)" "" "0000336041" "00000390" "50" "-1756" "0" "-1756" "0" "c.-1756C>T" "r.(?)" "p.(=)" "" "0000336042" "00000390" "50" "-1741" "0" "-1741" "0" "c.-1741G>A" "r.(?)" "p.(=)" "" "0000336043" "00000390" "30" "-1259" "0" "-1259" "0" "c.-1259G>T" "r.(?)" "p.(=)" "" "0000336044" "00000390" "30" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.(Thr14Ala)" "" "0000336047" "00000390" "30" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000336048" "00000390" "30" "901" "-5" "901" "-5" "c.901-5C>T" "r.spl?" "p.?" "" "0000336050" "00000390" "50" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Asp561=)" "" "0000336051" "00000390" "50" "1699" "0" "1699" "0" "c.1699C>T" "r.(?)" "p.(Gln567Ter)" "" "0000336052" "00000390" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Gln567Arg)" "" "0000336053" "00000390" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Phe673=)" "" "0000337265" "00000390" "70" "901" "-5" "901" "-5" "c.901-5C>A" "r.spl?" "p.?" "" "0000337266" "00000390" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ala445Val)" "" "0000337268" "00000390" "10" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "" "0000337269" "00000390" "30" "2252" "0" "2252" "0" "c.*14G>A" "r.(=)" "p.(=)" "" "0000339481" "00000390" "50" "300" "0" "300" "0" "c.300C>G" "r.(?)" "p.(Ala100=)" "" "0000339482" "00000390" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Leu516=)" "" "0000339483" "00000390" "10" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Phe673=)" "" "0000341167" "00000390" "50" "422" "0" "422" "0" "c.422C>A" "r.(?)" "p.(Ala141Asp)" "" "0000341425" "00000390" "90" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Ala396Thr)" "" "0000341522" "00000390" "90" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Ala616Thr)" "" "0000341529" "00000390" "70" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Ala626Thr)" "" "0000341789" "00000390" "50" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Arg120His)" "" "0000342039" "00000390" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Cys)" "" "0000342523" "00000390" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Cys)" "" "0000343044" "00000390" "70" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Trp)" "" "0000343225" "00000390" "90" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Arg660Trp)" "" "0000343467" "00000390" "50" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Gln)" "" "0000344608" "00000390" "90" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Gln177Ter)" "" "0000345495" "00000390" "50" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Glu609Lys)" "" "0000345966" "00000390" "70" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "0000346439" "00000390" "50" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(His283Arg)" "" "0000346537" "00000390" "70" "290" "0" "290" "0" "c.290A>C" "r.(?)" "p.(His97Pro)" "" "0000347680" "00000390" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000348470" "00000390" "30" "1438" "0" "1438" "0" "c.1438C>A" "r.(?)" "p.(Pro480Thr)" "" "0000349228" "00000390" "70" "293" "0" "293" "0" "c.293C>G" "r.(?)" "p.(Ser98Trp)" "" "0000349290" "00000390" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Thr14Arg)" "" "0000349487" "00000390" "50" "1156" "0" "1156" "0" "c.1156A>T" "r.(?)" "p.(Thr386Ser)" "" "0000350640" "00000390" "30" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Val70Leu)" "" "0000350942" "00000390" "30" "2245" "0" "2245" "0" "c.*7C>T" "r.(=)" "p.(=)" "" "0000405571" "00000390" "70" "1667" "0" "1667" "0" "c.1667A>T" "r.(?)" "p.(Gln556Leu)" "" "0000408064" "00000390" "00" "-279916" "0" "602955" "0" "c.-279916_*600717dup" "r.0?" "p.0?" "" "0000574314" "00000390" "50" "-2011" "0" "-2009" "0" "c.-2011_-2009del" "r.(?)" "p.(=)" "" "0000574315" "00000390" "30" "-1741" "0" "-1741" "0" "c.-1741G>A" "r.(?)" "p.(=)" "" "0000574316" "00000390" "50" "31" "0" "31" "0" "c.31C>G" "r.(?)" "p.(Arg11Gly)" "" "0000574317" "00000390" "30" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "" "0000574318" "00000390" "30" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "" "0000574319" "00000390" "30" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "" "0000574320" "00000390" "30" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "" "0000574321" "00000390" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Ala99=)" "" "0000574322" "00000390" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Cys)" "" "0000574324" "00000390" "50" "392" "0" "392" "0" "c.392G>T" "r.(?)" "p.(Gly131Val)" "" "0000574325" "00000390" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000574326" "00000390" "30" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Leu158=)" "" "0000574327" "00000390" "30" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Ala159Thr)" "" "0000574328" "00000390" "90" "659" "0" "659" "0" "c.659T>C" "r.(?)" "p.(Leu220Pro)" "" "0000574329" "00000390" "30" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236His)" "" "0000574330" "00000390" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(His299Arg)" "" "0000574331" "00000390" "30" "901" "-16" "901" "-16" "c.901-16C>T" "r.(=)" "p.(=)" "" "0000574332" "00000390" "30" "901" "-16" "901" "-16" "c.901-16C>T" "r.(=)" "p.(=)" "" "0000574333" "00000390" "30" "1047" "0" "1047" "0" "c.1047C>A" "r.(?)" "p.(Val349=)" "" "0000574334" "00000390" "50" "1082" "-20" "1082" "-20" "c.1082-20A>C" "r.(=)" "p.(=)" "" "0000574335" "00000390" "30" "1117" "0" "1117" "0" "c.1117A>G" "r.(?)" "p.(Lys373Glu)" "" "0000574336" "00000390" "30" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Glu376Ala)" "" "0000574337" "00000390" "90" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389His)" "" "0000574338" "00000390" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ala445Val)" "" "0000574339" "00000390" "30" "1489" "-6" "1489" "-6" "c.1489-6del" "r.(=)" "p.(=)" "" "0000574340" "00000390" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Gln567Arg)" "" "0000574341" "00000390" "30" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Gln567Arg)" "" "0000574342" "00000390" "30" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Ala650Thr)" "" "0000574344" "00000390" "30" "2201" "0" "2201" "0" "c.2201C>T" "r.(?)" "p.(Pro734Leu)" "" "0000619169" "00000390" "30" "-4394" "0" "-4394" "0" "c.-4394G>A" "r.(?)" "p.(=)" "" "0000619170" "00000390" "30" "-2118" "0" "-2118" "0" "c.-2118A>G" "r.(?)" "p.(=)" "" "0000619171" "00000390" "30" "-2011" "0" "-2009" "0" "c.-2011_-2009del" "r.(?)" "p.(=)" "" "0000619172" "00000390" "90" "314" "0" "314" "0" "c.314C>T" "r.(?)" "p.(Thr105Ile)" "" "0000619173" "00000390" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Asp187=)" "" "0000619174" "00000390" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ala445Val)" "" "0000619175" "00000390" "50" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Val550Met)" "" "0000619176" "00000390" "50" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554His)" "" "0000624487" "00000390" "30" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000626456" "00000390" "50" "1853" "0" "1853" "0" "c.1853T>C" "r.(?)" "p.(Met618Thr)" "" "0000652819" "00000390" "90" "1288" "0" "1288" "0" "c.1288C>T" "r.(?)" "p.(Gln430*)" "" "0000653269" "00000390" "70" "1364" "0" "1364" "0" "c.1364dup" "r.(?)" "p.(Arg456Profs*100)" "" "0000653354" "00000390" "90" "1415" "0" "1416" "0" "c.1415_1416del" "r.(?)" "p.(Gln472Argfs*83)" "" "0000659152" "00000390" "90" "565" "0" "565" "0" "c.565del" "r.(?)" "p.(Arg189GlyfsTer9)" "" "0000659153" "00000390" "30" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Asp561=)" "" "0000682209" "00000390" "30" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.(Thr14Ala)" "" "0000682210" "00000390" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Thr14Arg)" "" "0000682211" "00000390" "30" "249" "0" "249" "0" "c.249C>T" "r.(?)" "p.(Phe83=)" "" "0000682212" "00000390" "50" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Gly248Ser)" "" "0000682213" "00000390" "90" "1681" "0" "1681" "0" "c.1681del" "r.(?)" "p.(Asp561ThrfsTer75)" "" "0000682214" "00000390" "30" "1914" "0" "1914" "0" "c.1914C>T" "r.(?)" "p.(Asp638=)" "" "0000693426" "00000390" "30" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Gly12=)" "" "0000693427" "00000390" "90" "843" "0" "843" "0" "c.843C>A" "r.(?)" "p.(Tyr281Ter)" "" "0000728563" "00000390" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Val86=)" "" "0000728564" "00000390" "70" "446" "0" "446" "0" "c.446G>A" "r.(?)" "p.(Ser149Asn)" "" "0000728565" "00000390" "50" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Ser235Phe)" "" "0000728566" "00000390" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ser244Leu)" "" "0000728567" "00000390" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ser284*)" "" "0000728568" "00000390" "30" "1581" "0" "1581" "0" "c.1581C>T" "r.(?)" "p.(Tyr527=)" "" "0000728569" "00000390" "50" "2032" "0" "2032" "0" "c.2032G>T" "r.(?)" "p.(Gly678Cys)" "" "0000728570" "00000390" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Pro730=)" "" "0000759809" "00000390" "90" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Tyr181Cys)" "" "0000786719" "00000390" "70" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(Asn148Ser)" "1" "0000786720" "00000390" "90" "459" "0" "459" "0" "c.459C>A" "r.(?)" "p.(Tyr153Ter)" "1" "0000786721" "00000390" "70" "712" "0" "712" "0" "c.712del" "r.(?)" "p.(Ala238ProfsTer98)" "1" "0000786722" "00000390" "90" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Gly266Arg)" "1" "0000786723" "00000390" "90" "901" "-1" "901" "-1" "c.901-1G>A" "r.spl" "p.?" "1i" "0000795614" "00000390" "70" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(Leu605Val)" "" "0000810054" "00000390" "50" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191His)" "" "0000810055" "00000390" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "" "0000810056" "00000390" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Val349=)" "" "0000810057" "00000390" "30" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Val604Ile)" "" "0000810058" "00000390" "30" "1920" "0" "1920" "0" "c.1920A>G" "r.(?)" "p.(Glu640=)" "" "0000810059" "00000390" "30" "2182" "0" "2182" "0" "c.2182C>A" "r.(?)" "p.(His728Asn)" "" "0000856418" "00000390" "30" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Val468=)" "" "0000856419" "00000390" "30" "1489" "-6" "1489" "-6" "c.1489-6del" "r.(=)" "p.(=)" "" "0000856420" "00000390" "50" "1831" "0" "1831" "0" "c.1831del" "r.(?)" "p.(Gln611Argfs*25)" "" "0000867161" "00000390" "30" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(Cys39Phe)" "" "0000867162" "00000390" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Val86=)" "" "0000867163" "00000390" "50" "707" "0" "707" "0" "c.707G>A" "r.(?)" "p.(Arg236His)" "" "0000867164" "00000390" "70" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Gly266Arg)" "" "0000867165" "00000390" "30" "901" "-10" "901" "-10" "c.901-10C>T" "r.(=)" "p.(=)" "" "0000867166" "00000390" "30" "1082" "-15" "1082" "-15" "c.1082-15T>C" "r.(=)" "p.(=)" "" "0000867167" "00000390" "50" "1455" "0" "1455" "0" "c.1455A>C" "r.(?)" "p.(Ser485=)" "" "0000867168" "00000390" "50" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Ile542Val)" "" "0000867169" "00000390" "50" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000867170" "00000390" "70" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Val583Met)" "" "0000867171" "00000390" "50" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Val583Glu)" "" "0000878557" "00000390" "50" "1866" "-10" "1866" "-10" "c.1866-10G>A" "r.(?)" "p.(=)" "" "0000879979" "00000390" "50" "900" "3" "900" "3" "c.900+3G>C" "r.900_901=" "p.=" "" "0000880724" "00000390" "90" "901" "-25" "901" "-9" "c.901-25_901-9del" "r.spl" "p.?" "" "0000881120" "00000390" "90" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Ter)" "" "0000895979" "00000390" "70" "880" "0" "880" "0" "c.880G>A" "r.(?)" "p.(Ala294Thr)" "" "0000895980" "00000390" "30" "1082" "-19" "1082" "-19" "c.1082-19C>G" "r.(=)" "p.(=)" "" "0000895981" "00000390" "90" "1224" "1" "1224" "1" "c.1224+1G>T" "r.spl?" "p.?" "" "0000895982" "00000390" "30" "2190" "0" "2190" "0" "c.2190G>A" "r.(?)" "p.(Pro730=)" "" "0000915627" "00000390" "30" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Val147Ile)" "" "0000915628" "00000390" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "" "0000915629" "00000390" "70" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "" "0000915630" "00000390" "10" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Leu516=)" "" "0000915631" "00000390" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Leu627Phe)" "" "0000927274" "00000390" "10" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Gln567Arg)" "" "0000927275" "00000390" "10" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Val582Ile)" "" "0000927276" "00000390" "10" "1748" "0" "1748" "0" "c.1748T>A" "r.(?)" "p.(Val583Glu)" "" "0000951700" "00000390" "30" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "" "0000951701" "00000390" "30" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Arg)" "" "0000952597" "00000390" "50" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Pro730Ser)" "10" "0000954267" "00000390" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0000954268" "00000390" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Trp)" "" "0000954269" "00000390" "70" "1547" "0" "1547" "0" "c.1547T>C" "r.(?)" "p.(Leu516Pro)" "" "0000954270" "00000390" "90" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617His)" "" "0000954271" "00000390" "90" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Ser98Leu)" "" "0000954272" "00000390" "90" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Arg518Trp)" "" "0000954273" "00000390" "50" "1866" "-10" "1866" "-10" "c.1866-10G>A" "r.spl" "p.?" "" "0000954274" "00000390" "70" "1559" "0" "1559" "0" "c.1559T>C" "r.(?)" "p.(Leu520Pro)" "" "0000970857" "00000390" "50" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Gln)" "" "0000970859" "00000390" "30" "757" "0" "757" "0" "c.757C>G" "r.(?)" "p.(Leu253Val)" "" "0000970860" "00000390" "30" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(His299Tyr)" "" "0000970861" "00000390" "90" "1365" "0" "1371" "0" "c.1365_1371del" "r.(?)" "p.(Val457Alafs*3)" "" "0000970862" "00000390" "30" "1489" "-6" "1489" "-6" "c.1489-6del" "r.(=)" "p.(=)" "" "0000984917" "00000390" "30" "1447" "0" "1447" "0" "c.1447A>G" "r.(?)" "p.(Thr483Ala)" "" "0001006524" "00000390" "30" "178" "0" "178" "0" "c.178G>C" "r.(?)" "p.(Val60Leu)" "" "0001006525" "00000390" "30" "356" "0" "356" "0" "c.356C>T" "r.(?)" "p.(Ala119Val)" "" "0001006526" "00000390" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(His299Arg)" "" "0001006527" "00000390" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Glu421Lys)" "" "0001015997" "00000390" "30" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(=)" "" "0001044183" "00000390" "30" "696" "0" "696" "0" "c.696G>T" "r.(?)" "p.(=)" "" "0001045275" "00000390" "70" "1866" "0" "1866" "0" "c.1866G>T" "r.(?)" "p.(Arg622Ser)" "" "0001046843" "00000390" "10" "1992" "-32" "1992" "-32" "c.1992-32C>T" "r.(=)" "p.(=)" "" "0001046844" "00000390" "10" "2246" "0" "2246" "0" "c.*8G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 104 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002218" "0000000209" "0000003322" "0000000209" "0000008014" "0000000209" "0000008015" "0000000209" "0000008016" "0000000209" "0000008017" "0000000209" "0000008018" "0000000209" "0000008019" "0000000210" "0000010173" "0000000210" "0000010174" "0000000210" "0000010175" "0000000210" "0000010176" "0000000210" "0000010177" "0000000210" "0000010178" "0000000210" "0000010179" "0000000210" "0000010180" "0000000210" "0000010181" "0000000210" "0000010182" "0000000210" "0000010183" "0000000210" "0000010184" "0000000210" "0000010185" "0000000210" "0000010186" "0000000210" "0000010187" "0000000210" "0000011308" "0000000210" "0000015981" "0000000210" "0000015983" "0000000210" "0000015985" "0000000210" "0000015988" "0000000210" "0000015989" "0000052083" "0000081524" "0000052294" "0000081735" "0000052295" "0000081736" "0000052296" "0000081737" "0000052297" "0000081738" "0000052298" "0000081739" "0000052299" "0000081740" "0000052300" "0000081741" "0000052301" "0000081742" "0000052302" "0000081743" "0000052303" "0000081744" "0000052304" "0000081745" "0000052305" "0000081746" "0000052306" "0000081747" "0000052319" "0000081760" "0000052326" "0000081769" "0000052327" "0000081770" "0000052328" "0000081771" "0000052329" "0000081772" "0000052330" "0000081773" "0000052331" "0000081774" "0000052332" "0000081775" "0000052333" "0000081776" "0000052334" "0000081777" "0000052335" "0000081778" "0000052336" "0000081779" "0000052337" "0000081780" "0000052338" "0000081781" "0000052339" "0000081782" "0000052340" "0000081783" "0000052341" "0000081784" "0000052342" "0000081785" "0000052343" "0000081786" "0000052344" "0000081787" "0000052345" "0000081788" "0000052346" "0000081789" "0000052347" "0000081790" "0000052348" "0000081791" "0000052349" "0000081792" "0000052350" "0000081793" "0000052351" "0000081794" "0000052352" "0000081795" "0000052353" "0000081796" "0000052356" "0000081800" "0000052357" "0000081801" "0000087242" "0000140365" "0000087243" "0000140400" "0000088308" "0000145975" "0000181877" "0000405571" "0000184095" "0000408064" "0000272529" "0000626456" "0000296130" "0000652819" "0000296580" "0000653269" "0000296664" "0000653354" "0000360110" "0000759809" "0000375368" "0000786719" "0000375369" "0000786720" "0000375370" "0000786721" "0000375371" "0000786722" "0000375372" "0000786723" "0000381980" "0000795614" "0000418720" "0000878557" "0000419812" "0000879979" "0000420388" "0000880724" "0000420761" "0000881120" "0000445544" "0000952597" "0000446057" "0000954267" "0000446058" "0000954268" "0000446059" "0000954269" "0000446060" "0000954270" "0000446061" "0000954271" "0000446062" "0000954272" "0000446063" "0000954273" "0000446064" "0000954274" "0000451140" "0000984917"