### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATRX) # 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}}" "ATRX" "ATRX chromatin remodeler" "X" "q21.1" "unknown" "NG_008838.2" "UD_130020537646" "" "https://www.LOVD.nl/ATRX" "" "1" "886" "546" "300032" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ATRX_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2008-10-08 00:00:00" "00006" "2017-01-08 12:10:58" "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}}" "00000806" "ATRX" "transcript variant 1" "002" "NM_000489.3" "" "NP_000480.2" "" "" "" "-232" "10952" "7479" "76760356" "77041719" "00000" "2012-09-13 12:53:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "01071" "ATRX" "thalassemia, alpha/mental retardation syndrome (ATRX)" "XLD" "301040" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01072" "ATMDS" "thalassemia, alpha, myelodysplasia syndrome, somatic (ATMDS)" "" "300448" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "01073" "MRXHF1" "mental retardation-hypotonic facies syndrome, X-linked" "XLR" "309580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ATRX" "00139" "ATRX" "01071" "ATRX" "01072" "ATRX" "01073" ## Individuals ## Do not remove or alter this header ## ## Count = 54 "{{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" "" "" "" "" "00016841" "" "" "" "2" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 2 affected, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam2" "00016842" "" "" "" "2" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "no" "" "" "0" "" "" "" "Fam3" "00016925" "" "" "" "2" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam4" "00050590" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050655" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050710" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00095109" "" "" "" "1" "" "01586" "" "" "" "?" "" "" "0" "Yes" "" "" "" "00111409" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "M" "no" "" "" "0" "" "" "" "S_090" "00133269" "" "" "" "1" "" "01975" "" "" "M" "?" "France" ">22y" "0" "" "" "" "Case 1" "00133270" "" "" "" "1" "" "01975" "" "" "M" "?" "" "06y" "0" "" "" "" "Case 2" "00150144" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB6085" "00150145" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB6530" "00183094" "" "" "" "3" "" "00006" "{PMID:Hu 2016:25644381}" "family, 3 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamT48" "00183095" "" "" "" "3" "" "00006" "{PMID:Hu 2016:25644381}" "family, 3 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU12" "00183141" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamD137" "00183165" "" "" "" "3" "" "00006" "{PMID:Hu 2016:25644381}" "family, 3 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamL48" "00183169" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamAU54" "00183256" "" "" "" "1" "" "00006" "{PMID:Pinz 2018:29446546}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "United States" "" "0" "" "" "" "29446546-Pat1" "00265339" "" "" "" "2" "" "03427" "{PMID:Dias 2019:31668703}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6PatIV1" "00295095" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295096" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295097" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296770" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected carrier mother/sister" "M" "" "France" "" "0" "" "" "" "APN-138" "00296774" "" "" "" "2" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "APN-113" "00305319" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305958" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307258" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "patient with retinoblastoma" "M" "" "Brazil" "" "0" "" "" "" "Patient 64" "00307692" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307719" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411056" "00307720" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411171" "00307721" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410920" "00307722" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411357" "00307723" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411068" "00307724" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411170" "00307789" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411356" "00307790" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410693" "00314913" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "TrioN8" "00315010" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1323" "00315026" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1401" "00315047" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1355" "00361696" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG1621" "00374494" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2432" "00374601" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4021" "00374668" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2252" "00381848" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "184335" "00387731" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents once removed" "" "yes" "Iran" "" "0" "" "" "Persia" "M222" "00387865" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, second cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8900286" "00440460" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2404.1" "00453024" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "5-generation family, 2 affected brothers, heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam1" "00458099" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 54 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016841" "00139" "00016842" "00139" "00016925" "00139" "00050590" "00198" "00050655" "00198" "00050710" "00198" "00095109" "01073" "00111409" "00139" "00133269" "01071" "00133270" "01071" "00150144" "00198" "00150145" "00198" "00183094" "00187" "00183095" "00187" "00183141" "00187" "00183165" "00187" "00183169" "00187" "00183256" "00198" "00265339" "00139" "00295095" "00198" "00295096" "00198" "00295097" "00198" "00296770" "00139" "00296774" "00139" "00305319" "00198" "00305958" "00198" "00307142" "01544" "00307145" "01544" "00307258" "01544" "00307692" "00198" "00307719" "00139" "00307720" "00139" "00307721" "00139" "00307722" "00139" "00307723" "00139" "00307724" "00139" "00307789" "00139" "00307790" "00139" "00314913" "00198" "00315010" "00198" "00315026" "00198" "00315047" "00198" "00361696" "00139" "00374494" "00198" "00374601" "00198" "00374668" "00198" "00381848" "01071" "00387731" "00139" "00387865" "00139" "00440460" "00198" "00453024" "05611" "00458099" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01071, 01072, 01073, 01157, 01544, 05611 ## Count = 42 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015245" "00139" "00016842" "00714" "Familial, X-linked recessive" "07y" "7y/3y; severe intellectual disability, microcephaly, short nasal septum" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000015390" "00139" "00016841" "00714" "Unknown" "03y" "severely delayed psychomotor development, 25m-walking, no speech, microcephaly borderline short stature; 30y maternal uncle said microcephalic in childhood, OFC and height now 50th centile" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000015393" "00139" "00016925" "00714" "Familial, X-linked recessive" "03y" "severe intellectual disability, secondary microcephaly, muscular hypotonia, epilepsy, strabismus, short nasal septum, agenesis gallbladder, 3y5m-deceased of respiratory infection; younger brother primary microcephaly, micropenis, cryptorchidism, severely delayed psychomotor development, gallbladder agenesis" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000037202" "00198" "00050590" "00006" "Unknown" "" "autism, specific learning disability, delayed speech and language development, seizures, macrocephaly, genital hypoplasia, joint hypermobility" "" "" "" "" "" "" "" "" "" "" "" "" "0000037267" "00198" "00050655" "00006" "Unknown" "" "global developmental delay, generalized hypotonia, microcephaly, wide mouth, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "" "0000037322" "00198" "00050710" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, feeding difficulties in infancy, generalized hypotonia, hypoglycemia, agenesis of corpus callosum, global developmental delay, cortical visual impairment, epicanthus, low-set posteriorly rotated ears, downturned corners of mouth, uplifted earlobe, preauricular pit, progressive microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000073505" "01073" "00095109" "01586" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087494" "00139" "00111409" "00729" "Unknown" "" "Male, 16 mo, hypotonia, severe developmental delay, renal anomalies, normal head circumference (maternal XI 86%); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344)" "" "" "" "" "" "" "" "" "" "" "" "" "0000106016" "01071" "00133269" "01975" "Familial, X-linked" "" "Osteosarcoma at 9 years" "" "" "" "" "" "" "" "" "" "" "" "" "0000106017" "01071" "00133270" "01975" "Unknown" "" "Osteosarcoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000122546" "00198" "00150144" "00006" "Familial, X-linked" "" "intellectual diability, microcephaly, spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "0000122547" "00198" "00150145" "00006" "Familial, X-linked" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "0000143848" "00187" "00183094" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143849" "00187" "00183095" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143895" "00187" "00183141" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143919" "00187" "00183165" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143923" "00187" "00183169" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000143986" "00198" "00183256" "00006" "Isolated (sporadic)" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "TAPVR-1" "Scimitar syndrome" "" "0000203136" "00139" "00265339" "03427" "Familial, autosomal recessive" "11y" "intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; no self-injury/hand-biting; bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms" "" "" "" "" "" "" "" "" "" "" "" "" "0000224169" "00139" "00296770" "00006" "Familial, X-linked" "" "severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000224173" "00139" "00296774" "00006" "Familial, X-linked" "" "severe intellectual disability, no dysmorphic traits, no urogenital abnormalities, no Heinz bodies" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000231806" "00198" "00305958" "01164" "Unknown" "" "Abnormality of blood and blood-forming tissues (HP:0001871)" "" "" "" "" "" "" "" "" "" "" "" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233062" "01544" "00307258" "03753" "Unknown" "" "Bilateral" "" "" "00y15m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233252" "00198" "00307692" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Autism (HP:0000717)" "" "" "" "" "" "" "" "" "" "" "" "" "0000238671" "00198" "00314913" "00006" "Isolated (sporadic)" "19y" "Bicuspid aortic valve, bilateral coronal craniosynostoses, dysmorphic features, quadriplegic cerebral palsy, bilateral inguinal hernias, G-tube placement, obstructive sleep apnea, and severe intellectual disability." "1d" "" "" "" "" "" "" "" "" "" "" "" "0000238762" "00198" "00315010" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "alpha-thalassaemia myelodysplasia syndrome, mental retardation-hypotonic facies syndrome, X linked" "chromatinopathy" "" "0000238778" "00198" "00315026" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Coffin-Lowry syndrome" "chromatinopathy" "" "0000238799" "00198" "00315047" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Coffin-Lowry syndrome" "chromatinopathy" "" "0000257101" "00139" "00361696" "00006" "Unknown" "14y" "not syndromic; intellectual disability, microcephaly, short stature, seizures" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269704" "00198" "00374494" "00006" "Familial, X-linked" "" "Cerebral atrophy and global developmental delay" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269811" "00198" "00374601" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269878" "00198" "00374668" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000275690" "01071" "00381848" "01164" "Familial, X-linked recessive" "" "Intellectual disability, Intellectual disability, moderate, Muscular hypotonia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Microcephaly, Drooling" "" "" "11y" "" "" "" "" "" "" "" "" "" "0000281299" "00139" "00387731" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281433" "00139" "00387865" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000330370" "00198" "00440460" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "X-linked alpha-thalassemia/mental retardation syndrome (MIM #301040)" "" "" "0000341669" "05611" "00453024" "03566" "Familial, autosomal recessive" "" "moderate to severe intellectual disability, aggressive behavior, language problems, mild microcephaly, mild facial dysmorphic features" "" "" "" "" "" "" "" "" "" "MRXHF1" "neurodevelopmental disorder" "" "0000346546" "00198" "00458099" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0001627, HP:0000271" "" "" "" "" "" "" "" "" "" "ATRX" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 54 "{{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" "" "" "0000016808" "00016841" "1" "00714" "00714" "2014-05-30 14:03:09" "" "" "SEQ-NG" "DNA" "blood" "" "0000016809" "00016842" "1" "00714" "00714" "2014-05-30 14:32:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000016899" "00016925" "1" "00714" "00714" "2014-06-06 14:52:13" "" "" "PCR" "DNA" "" "" "0000050535" "00050590" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050600" "00050655" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050655" "00050710" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000095508" "00095109" "1" "01586" "01586" "2017-01-06 12:25:26" "" "" "SEQ;SEQ-NG" "DNA" "Blood" "" "0000111874" "00111409" "1" "00729" "00729" "2017-08-03 07:35:16" "" "" "SEQ-NG" "DNA" "" "" "0000134106" "00133269" "1" "01975" "01975" "2017-11-15 14:34:16" "" "" "SEQ" "DNA" "Blood" "" "0000134107" "00133270" "1" "01975" "01975" "2017-11-15 14:53:35" "" "" "SEQ" "DNA" "Blood" "" "0000150999" "00150144" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000151000" "00150145" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000184052" "00183094" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184053" "00183095" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184099" "00183141" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184123" "00183165" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184127" "00183169" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184213" "00183256" "1" "00006" "00006" "2018-10-21 17:24:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000266458" "00265339" "1" "03427" "03427" "2019-09-20 21:48:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000296263" "00295095" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296264" "00295096" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296265" "00295097" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297880" "00296770" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "225-gene ID panel" "0000297884" "00296774" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "229-gene ID panel" "0000306448" "00305319" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307088" "00305958" "1" "01164" "01164" "2020-07-06 11:46:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308400" "00307258" "1" "03753" "03753" "2020-08-07 03:26:45" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308832" "00307692" "1" "01164" "01164" "2020-08-18 12:57:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000308859" "00307719" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308860" "00307720" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308861" "00307721" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308862" "00307722" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308863" "00307723" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308864" "00307724" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308929" "00307789" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308930" "00307790" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000316087" "00314913" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000316186" "00315010" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316202" "00315026" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316223" "00315047" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000362924" "00361696" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375688" "00374494" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375795" "00374601" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375862" "00374668" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000383064" "00381848" "1" "01164" "01164" "2021-09-03 11:47:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000388962" "00387731" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389096" "00387865" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000441945" "00440460" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000454635" "00453024" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" "0000459717" "00458099" "1" "03544" "03544" "2024-11-29 11:55:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000016808" "ATRX" "0000016809" "ATRX" "0000016899" "ATRX" "0000050535" "ATRX" "0000050600" "ATRX" "0000050655" "ATRX" "0000111874" "ATRX" "0000134106" "ATRX" "0000134107" "ATRX" "0000150999" "ATRX" "0000151000" "ATRX" "0000184052" "ATRX" "0000184053" "ATRX" "0000184099" "ATRX" "0000184123" "ATRX" "0000184127" "ATRX" "0000184213" "C11orf9" "0000297880" "ATRX" "0000297884" "ATRX" "0000297884" "HCFC1" "0000308287" "RB1" "0000308859" "ATRX" "0000308860" "ATRX" "0000308861" "ATRX" "0000308862" "ATRX" "0000308863" "ATRX" "0000308864" "ATRX" "0000308929" "ATRX" "0000308930" "ATRX" "0000316087" "ATRX" "0000316186" "ATRX" "0000316202" "ATRX" "0000316223" "ATRX" "0000362924" "ATRX" "0000375688" "SLC16A2" "0000375795" "ATRX" "0000375862" "ATRX" "0000383064" "ATRX" "0000388962" "ATRX" "0000389096" "ATRX" ## 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 = 235 "{{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}}" "0000003062" "0" "30" "X" "76763679" "76763679" "del" "0" "00037" "ATRX_000149" "g.76763679del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77508201del" "" "likely benign" "" "0000003063" "20" "30" "X" "76936949" "76936950" "del" "0" "00037" "ATRX_000148" "g.76936949_76936950del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77681457_77681458del" "" "likely benign" "" "0000011043" "20" "30" "X" "76936949" "76936950" "del" "0" "00037" "ATRX_000148" "g.76936949_76936950del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77681457_77681458del" "" "likely benign" "" "0000036706" "21" "70" "X" "76777736" "76777736" "subst" "0" "00714" "ATRX_000150" "g.76777736C>T" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77522258C>T" "" "VUS" "" "0000036708" "21" "70" "X" "76829797" "76829797" "subst" "0" "00714" "ATRX_000071" "g.76829797C>T" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77574332C>T" "" "likely pathogenic (recessive)" "" "0000036846" "21" "90" "X" "76764043" "76764044" "ins" "0" "00714" "ATRX_000152" "g.76764043_76764044insA" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77508565_77508566insA" "" "pathogenic (recessive)" "" "0000079515" "21" "90" "X" "76939069" "76939069" "subst" "4.51401E-5" "00006" "ATRX_000155" "g.76939069G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.77683577G>C" "" "pathogenic" "" "0000079580" "21" "90" "X" "76829788" "76829788" "subst" "0" "00006" "ATRX_000073" "g.76829788G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.77574323G>A" "" "pathogenic" "" "0000079635" "0" "90" "X" "76763930" "76763930" "dup" "0" "00006" "ATRX_000153" "g.76763930dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.77508452dup" "" "pathogenic" "" "0000154073" "21" "70" "X" "76813091" "76813091" "subst" "0" "01586" "ATRX_000156" "g.76813091T>G" "" "" "" "" "Mother showed unilateral X inactivation" "Germline" "yes" "" "0" "" "" "g.77557620T>G" "" "likely pathogenic" "" "0000179031" "21" "50" "X" "76777853" "76777853" "subst" "0" "00729" "ATRX_000157" "g.76777853C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77522375C>T" "" "VUS" "ACMG" "0000223794" "21" "90" "X" "76776310" "76776310" "subst" "0" "01975" "ATRX_000083" "g.76776310G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.77520832G>A" "" "pathogenic" "" "0000223795" "0" "70" "X" "76813089" "76813089" "subst" "0" "01975" "ATRX_000158" "g.76813089G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.77557618G>A" "" "likely pathogenic" "" "0000244155" "21" "90" "X" "76944372" "76944372" "subst" "0" "00006" "ATRX_000160" "g.76944372A>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_000489: c.T533A; p.V178D" "" "Germline" "" "" "0" "" "" "g.77688879A>T" "" "pathogenic" "" "0000244156" "21" "90" "X" "76939072" "76939072" "subst" "0" "00006" "ATRX_000159" "g.76939072G>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_000489: c.C1676T; p.S559L" "" "Germline" "" "" "0" "" "" "g.77683580G>A" "" "pathogenic" "" "0000252400" "0" "70" "X" "76940014" "76940014" "subst" "0" "02326" "ATRX_000206" "g.76940014A>T" "" "" "" "ATRX(NM_000489.5):c.734T>A (p.L245Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77684522A>T" "" "likely pathogenic" "" "0000254668" "0" "30" "X" "76764081" "76764081" "subst" "0" "01943" "ATRX_000163" "g.76764081A>T" "" "" "" "ATRX(NM_000489.5):c.7227T>A (p.L2409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77508603A>T" "" "likely benign" "" "0000259202" "0" "10" "X" "76953085" "76953085" "subst" "0.00759168" "02325" "ATRX_000207" "g.76953085C>T" "" "" "" "ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77697597C>T" "" "benign" "" "0000259203" "0" "10" "X" "76891470" "76891470" "subst" "0.000886946" "02325" "ATRX_000171" "g.76891470G>T" "" "" "" "ATRX(NM_000489.6):c.4635C>A (p.T1545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77635979G>T" "" "benign" "" "0000259568" "0" "30" "X" "76937207" "76937207" "subst" "0.00152407" "02325" "ATRX_000179" "g.76937207C>G" "" "" "" "ATRX(NM_000489.3):c.3541G>C (p.(Val1181Leu)), ATRX(NM_000489.5):c.3541G>C (p.V1181L), ATRX(NM_000489.6):c.3541G>C (p.V1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77681715C>G" "" "likely benign" "" "0000259569" "0" "30" "X" "76856021" "76856021" "subst" "0.00662448" "02325" "ATRX_000169" "g.76856021T>C" "" "" "" "ATRX(NM_000489.3):c.5579A>G (p.(Asn1860Ser)), ATRX(NM_000489.5):c.5579A>G (p.N1860S), ATRX(NM_000489.6):c.5579A>G (p.N1860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77600552T>C" "" "likely benign" "" "0000261298" "0" "10" "X" "76763779" "76763779" "subst" "0" "02326" "ATRX_000161" "g.76763779T>A" "" "" "" "ATRX(NM_000489.5):c.*50A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77508301T>A" "" "benign" "" "0000261299" "0" "30" "X" "76939445" "76939445" "subst" "0.000219353" "02326" "ATRX_000203" "g.76939445T>C" "" "" "" "ATRX(NM_000489.5):c.1303A>G (p.I435V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683953T>C" "" "likely benign" "" "0000261300" "0" "30" "X" "76939115" "76939115" "subst" "0.00159044" "02326" "ATRX_000200" "g.76939115G>C" "" "" "" "ATRX(NM_000489.3):c.1633C>G (p.(Gln545Glu)), ATRX(NM_000489.5):c.1633C>G (p.Q545E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683623G>C" "" "likely benign" "" "0000261301" "0" "30" "X" "76938748" "76938748" "subst" "0.00142219" "02326" "ATRX_000198" "g.76938748G>A" "" "" "" "ATRX(NM_000489.3):c.2000C>T (p.(Pro667Leu)), ATRX(NM_000489.5):c.2000C>T (p.P667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683256G>A" "" "likely benign" "" "0000261302" "0" "30" "X" "76938475" "76938475" "subst" "1.6853E-5" "02326" "ATRX_000196" "g.76938475T>C" "" "" "" "ATRX(NM_000489.5):c.2273A>G (p.H758R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682983T>C" "" "likely benign" "" "0000261303" "0" "30" "X" "76938153" "76938153" "subst" "0.00804887" "02326" "ATRX_000194" "g.76938153G>C" "" "" "" "ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682661G>C" "" "likely benign" "" "0000261304" "0" "10" "X" "76936951" "76936952" "del" "0" "02326" "ATRX_000178" "g.76936951_76936952del" "" "" "" "ATRX(NM_000489.5):c.3736+61_3736+62delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77681459_77681460del" "" "benign" "" "0000261305" "0" "30" "X" "76920164" "76920164" "subst" "5.60416E-5" "02326" "ATRX_000176" "g.76920164T>G" "" "" "" "ATRX(NM_000489.5):c.3913A>C (p.K1305Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77664675T>G" "" "likely benign" "" "0000261306" "0" "30" "X" "76918865" "76918865" "subst" "1.1196E-5" "02326" "ATRX_000173" "g.76918865T>A" "" "" "" "ATRX(NM_000489.5):c.4120+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77663376T>A" "" "likely benign" "" "0000261307" "0" "30" "X" "76856021" "76856021" "subst" "0.00662448" "02326" "ATRX_000169" "g.76856021T>C" "" "" "" "ATRX(NM_000489.3):c.5579A>G (p.(Asn1860Ser)), ATRX(NM_000489.5):c.5579A>G (p.N1860S), ATRX(NM_000489.6):c.5579A>G (p.N1860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77600552T>C" "" "likely benign" "" "0000261308" "0" "30" "X" "76855073" "76855076" "del" "0" "02326" "ATRX_000168" "g.76855073_76855076del" "" "" "" "ATRX(NM_000489.5):c.5787-8_5787-5delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77599604_77599607del" "" "likely benign" "" "0000261309" "0" "30" "X" "76777845" "76777845" "subst" "3.92084E-5" "02326" "ATRX_000164" "g.76777845T>C" "" "" "" "ATRX(NM_000489.5):c.6871A>G (p.I2291V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77522367T>C" "" "likely benign" "" "0000263421" "0" "30" "X" "76939461" "76939461" "subst" "0" "01943" "ATRX_000204" "g.76939461G>C" "" "" "" "ATRX(NM_000489.5):c.1287C>G (p.T429=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683969G>C" "" "likely benign" "" "0000263422" "0" "50" "X" "76939382" "76939382" "subst" "0" "01943" "ATRX_000202" "g.76939382C>A" "" "" "" "ATRX(NM_000489.5):c.1366G>T (p.D456Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683890C>A" "" "VUS" "" "0000263423" "0" "10" "X" "76938153" "76938153" "subst" "0.00804887" "01943" "ATRX_000194" "g.76938153G>C" "" "" "" "ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682661G>C" "" "benign" "" "0000263424" "0" "30" "X" "76938028" "76938028" "subst" "0.000495822" "01943" "ATRX_000190" "g.76938028C>T" "" "" "" "ATRX(NM_000489.5):c.2720G>A (p.R907Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682536C>T" "" "likely benign" "" "0000263426" "0" "50" "X" "76937918" "76937920" "del" "0" "01943" "ATRX_000187" "g.76937918_76937920del" "" "" "" "ATRX(NM_000489.5):c.2830_2832delGAA (p.E944del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682426_77682428del" "" "VUS" "" "0000263427" "0" "50" "X" "76937575" "76937575" "subst" "5.61233E-6" "01943" "ATRX_000181" "g.76937575T>C" "" "" "" "ATRX(NM_000489.5):c.3173A>G (p.D1058G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682083T>C" "" "VUS" "" "0000263428" "0" "30" "X" "76937207" "76937207" "subst" "0.00152407" "01943" "ATRX_000179" "g.76937207C>G" "" "" "" "ATRX(NM_000489.3):c.3541G>C (p.(Val1181Leu)), ATRX(NM_000489.5):c.3541G>C (p.V1181L), ATRX(NM_000489.6):c.3541G>C (p.V1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77681715C>G" "" "likely benign" "" "0000263429" "0" "10" "X" "76907796" "76907798" "del" "0" "01943" "ATRX_000172" "g.76907796_76907798del" "" "" "" "ATRX(NM_000489.3):c.4377_4379delGGA (p.(Glu1464del)), ATRX(NM_000489.5):c.4377_4379delGGA (p.E1464del), ATRX(NM_000489.6):c.4377_4379delGGA (p.E14...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77652306_77652308del" "" "benign" "" "0000263430" "0" "10" "X" "76856021" "76856021" "subst" "0.00662448" "01943" "ATRX_000169" "g.76856021T>C" "" "" "" "ATRX(NM_000489.3):c.5579A>G (p.(Asn1860Ser)), ATRX(NM_000489.5):c.5579A>G (p.N1860S), ATRX(NM_000489.6):c.5579A>G (p.N1860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77600552T>C" "" "benign" "" "0000263431" "0" "30" "X" "76812930" "76812930" "subst" "5.60544E-6" "01943" "ATRX_000165" "g.76812930G>A" "" "" "" "ATRX(NM_000489.5):c.6691C>T (p.L2231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77557459G>A" "" "likely benign" "" "0000334704" "0" "50" "X" "76763999" "76763999" "subst" "0" "01804" "ATRX_000162" "g.76763999T>G" "" "" "" "ATRX(NM_000489.3):c.7309A>C (p.(Met2437Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77508521T>G" "" "VUS" "" "0000334706" "0" "50" "X" "76872076" "76872076" "subst" "0.00030257" "01804" "ATRX_000170" "g.76872076T>G" "" "" "" "ATRX(NM_000489.3):c.5566+5A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77616608T>G" "" "VUS" "" "0000334707" "0" "50" "X" "76907796" "76907798" "del" "0" "01804" "ATRX_000172" "g.76907796_76907798del" "" "" "" "ATRX(NM_000489.3):c.4377_4379delGGA (p.(Glu1464del)), ATRX(NM_000489.5):c.4377_4379delGGA (p.E1464del), ATRX(NM_000489.6):c.4377_4379delGGA (p.E14...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77652306_77652308del" "" "VUS" "" "0000334710" "0" "50" "X" "76920197" "76920197" "subst" "0.000185002" "01804" "ATRX_000177" "g.76920197C>G" "" "" "" "ATRX(NM_000489.3):c.3880G>C (p.(Asp1294His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77664708C>G" "" "VUS" "" "0000334711" "0" "50" "X" "76937243" "76937243" "subst" "1.19409E-5" "01804" "ATRX_000180" "g.76937243T>G" "" "" "" "ATRX(NM_000489.3):c.3505A>C (p.(Lys1169Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77681751T>G" "" "VUS" "" "0000334713" "0" "50" "X" "76937681" "76937681" "subst" "2.80642E-5" "01804" "ATRX_000183" "g.76937681C>G" "" "" "" "ATRX(NM_000489.3):c.3067G>C (p.(Glu1023Gln)), ATRX(NM_000489.5):c.3067G>C (p.E1023Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682189C>G" "" "VUS" "" "0000334717" "0" "50" "X" "76937961" "76937961" "subst" "5.61978E-6" "01804" "ATRX_000188" "g.76937961C>G" "" "" "" "ATRX(NM_000489.3):c.2787G>C (p.(Gln929His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682469C>G" "" "VUS" "" "0000334718" "0" "30" "X" "76938047" "76938047" "subst" "0.000135202" "01804" "ATRX_000191" "g.76938047T>C" "" "" "" "ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)), ATRX(NM_000489.5):c.2701A>G (p.I901V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682555T>C" "" "likely benign" "" "0000334719" "0" "50" "X" "76938090" "76938090" "subst" "1.69258E-5" "01804" "ATRX_000192" "g.76938090C>G" "" "" "" "ATRX(NM_000489.3):c.2658G>C (p.(Glu886Asp)), ATRX(NM_000489.5):c.2658G>C (p.E886D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682598C>G" "" "VUS" "" "0000334720" "0" "50" "X" "76938100" "76938100" "subst" "0.000304677" "01804" "ATRX_000193" "g.76938100T>C" "" "" "" "ATRX(NM_000489.3):c.2648A>G (p.(Gln883Arg)), ATRX(NM_000489.5):c.2648A>G (p.Q883R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682608T>C" "" "VUS" "" "0000334721" "0" "30" "X" "76938153" "76938153" "subst" "0.00804887" "01804" "ATRX_000194" "g.76938153G>C" "" "" "" "ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682661G>C" "" "likely benign" "" "0000334724" "0" "50" "X" "76938748" "76938748" "subst" "0.00142219" "01804" "ATRX_000198" "g.76938748G>A" "" "" "" "ATRX(NM_000489.3):c.2000C>T (p.(Pro667Leu)), ATRX(NM_000489.5):c.2000C>T (p.P667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683256G>A" "" "VUS" "" "0000334725" "0" "50" "X" "76939019" "76939019" "subst" "5.62952E-6" "01804" "ATRX_000199" "g.76939019T>C" "" "" "" "ATRX(NM_000489.3):c.1729A>G (p.(Lys577Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683527T>C" "" "VUS" "" "0000334726" "0" "50" "X" "76939325" "76939325" "subst" "0.000364963" "01804" "ATRX_000201" "g.76939325G>C" "" "" "" "ATRX(NM_000489.3):c.1423C>G (p.(His475Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683833G>C" "" "VUS" "" "0000334727" "0" "50" "X" "76939574" "76939574" "subst" "0" "01804" "ATRX_000205" "g.76939574G>A" "" "" "" "ATRX(NM_000489.3):c.1174C>T (p.(Leu392Phe)), ATRX(NM_000489.6):c.1174C>T (p.L392F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77684082G>A" "" "VUS" "" "0000338753" "0" "10" "X" "77041501" "77041501" "subst" "0.0143123" "02327" "ATRX_000225" "g.77041501C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77786015C>T" "" "benign" "" "0000340455" "0" "10" "X" "76953085" "76953085" "subst" "0.00759168" "02327" "ATRX_000207" "g.76953085C>T" "" "" "" "ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77697597C>T" "" "benign" "" "0000342224" "0" "90" "X" "76829787" "76829787" "subst" "0" "02327" "ATRX_000209" "g.76829787C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77574322C>T" "" "pathogenic" "" "0000342263" "0" "90" "X" "76813089" "76813089" "subst" "0" "02327" "ATRX_000158" "g.76813089G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77557618G>A" "" "pathogenic" "" "0000342402" "0" "90" "X" "76940012" "76940012" "subst" "0" "02327" "ATRX_000222" "g.76940012G>A" "" "" "" "ATRX(NM_000489.5):c.736C>T (p.R246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77684520G>A" "" "pathogenic" "" "0000342752" "0" "90" "X" "76972632" "76972632" "subst" "0" "02327" "ATRX_000224" "g.76972632G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77717155G>A" "" "pathogenic" "" "0000343628" "0" "10" "X" "76856021" "76856021" "subst" "0.00662448" "02327" "ATRX_000169" "g.76856021T>C" "" "" "" "ATRX(NM_000489.3):c.5579A>G (p.(Asn1860Ser)), ATRX(NM_000489.5):c.5579A>G (p.N1860S), ATRX(NM_000489.6):c.5579A>G (p.N1860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77600552T>C" "" "benign" "" "0000343962" "0" "70" "X" "76874335" "76874335" "subst" "0" "02327" "ATRX_000212" "g.76874335T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77618867T>C" "" "likely pathogenic" "" "0000344285" "0" "90" "X" "76890173" "76890173" "subst" "0" "02327" "ATRX_000214" "g.76890173C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77634682C>T" "" "pathogenic" "" "0000345007" "0" "10" "X" "76937963" "76937963" "subst" "0.373274" "02327" "ATRX_000217" "g.76937963G>C" "" "" "" "ATRX(NM_000489.6):c.2785C>G (p.Q929E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77682471=" "" "benign" "" "0000346395" "0" "70" "X" "76944338" "76944338" "subst" "0" "02327" "ATRX_000223" "g.76944338G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77688845G>C" "" "likely pathogenic" "" "0000346961" "0" "70" "X" "76855934" "76855934" "subst" "0" "02327" "ATRX_000211" "g.76855934A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77600465A>C" "" "likely pathogenic" "" "0000347459" "0" "30" "X" "76855201" "76855201" "subst" "0" "02327" "ATRX_000210" "g.76855201T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77599732T>C" "" "likely benign" "" "0000348238" "0" "90" "X" "76875998" "76875998" "subst" "0" "02327" "ATRX_000213" "g.76875998G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77620530G>A" "" "pathogenic" "" "0000348311" "0" "50" "X" "76763879" "76763879" "subst" "5.5971E-6" "02327" "ATRX_000208" "g.76763879G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77508401G>T" "" "VUS" "" "0000349103" "0" "90" "X" "76939021" "76939021" "subst" "0" "02327" "ATRX_000220" "g.76939021G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683529G>T" "" "pathogenic" "" "0000349600" "0" "30" "X" "76938727" "76938727" "subst" "0" "02327" "ATRX_000218" "g.76938727G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77683235G>A" "" "likely benign" "" "0000350012" "0" "90" "X" "76939951" "76939951" "subst" "0" "02327" "ATRX_000221" "g.76939951T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77684459T>C" "" "pathogenic" "" "0000350318" "0" "50" "X" "76891457" "76891457" "subst" "0" "02327" "ATRX_000215" "g.76891457C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.77635966C>T" "" "VUS" "" "0000408021" "21" "90" "X" "76829787" "76829787" "subst" "0" "00006" "ATRX_000209" "g.76829787C>T" "" "{PMID:Hu 2016:25644381}" "" "ATRX R2085H" "" "Germline" "yes" "" "0" "" "" "g.77574322C>T" "" "pathogenic" "" "0000408022" "21" "90" "X" "76829788" "76829788" "subst" "0" "00006" "ATRX_000073" "g.76829788G>A" "" "{PMID:Hu 2016:25644381}" "" "ATRX R2085C" "" "Germline" "yes" "" "0" "" "" "g.77574323G>A" "" "pathogenic" "" "0000408068" "21" "90" "X" "76764105" "76764105" "dup" "0" "00006" "ATRX_000226" "g.76764105dup" "" "{PMID:Hu 2016:25644381}" "" "ATRX insT I2402Nfs*49" "" "Germline" "yes" "" "0" "" "" "g.77508627dup" "" "pathogenic" "" "0000408092" "21" "70" "X" "76891409" "76891409" "subst" "0" "00006" "ATRX_000227" "g.76891409C>A" "" "{PMID:Hu 2016:25644381}" "" "ATRX D1566Y" "" "Germline" "yes" "" "0" "" "" "g.77635918C>A" "" "likely pathogenic" "" "0000408096" "21" "70" "X" "76937883" "76937885" "del" "0" "00006" "ATRX_000228" "g.76937883_76937885del" "" "{PMID:Hu 2016:25644381}" "" "ATRX K956del" "" "Germline" "yes" "" "0" "" "" "g.77682391_77682393del" "" "likely pathogenic" "" "0000408218" "21" "50" "X" "76875923" "76875923" "subst" "0" "00006" "ATRX_000229" "g.76875923T>C" "" "{PMID:Pinz 2018:29446546}" "" "" "variant not associated with phenotype" "Germline" "" "" "0" "" "" "g.77620455T>C" "" "VUS" "" "0000577490" "0" "30" "X" "76777845" "76777845" "subst" "3.92084E-5" "01943" "ATRX_000164" "g.76777845T>C" "" "" "" "ATRX(NM_000489.5):c.6871A>G (p.I2291V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77522367T>C" "" "likely benign" "" "0000577492" "0" "50" "X" "76845319" "76845319" "subst" "0" "01804" "ATRX_000230" "g.76845319G>A" "" "" "" "ATRX(NM_000489.3):c.6202C>T (p.(Pro2068Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77589849G>A" "" "VUS" "" "0000577493" "0" "30" "X" "76849308" "76849308" "subst" "0.000117646" "02326" "ATRX_000231" "g.76849308A>T" "" "" "" "ATRX(NM_000489.5):c.5968T>A (p.S1990T), ATRX(NM_000489.6):c.5968T>A (p.S1990T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77593838A>T" "" "likely benign" "" "0000577494" "0" "30" "X" "76855069" "76855069" "subst" "0" "02326" "ATRX_000232" "g.76855069C>A" "" "" "" "ATRX(NM_000489.5):c.5787-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77599600C>A" "" "likely benign" "" "0000577496" "0" "30" "X" "76855073" "76855076" "del" "0" "01943" "ATRX_000168" "g.76855073_76855076del" "" "" "" "ATRX(NM_000489.5):c.5787-8_5787-5delGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77599604_77599607del" "" "likely benign" "" "0000577497" "0" "30" "X" "76856021" "76856021" "subst" "0.00662448" "01804" "ATRX_000169" "g.76856021T>C" "" "" "" "ATRX(NM_000489.3):c.5579A>G (p.(Asn1860Ser)), ATRX(NM_000489.5):c.5579A>G (p.N1860S), ATRX(NM_000489.6):c.5579A>G (p.N1860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77600552T>C" "" "likely benign" "" "0000577498" "0" "30" "X" "76875960" "76875960" "subst" "1.13743E-5" "01943" "ATRX_000233" "g.76875960T>C" "" "" "" "ATRX(NM_000489.5):c.5175A>G (p.K1725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77620492T>C" "" "likely benign" "" "0000577499" "0" "30" "X" "76937299" "76937299" "subst" "0" "01804" "ATRX_000234" "g.76937299T>C" "" "" "" "ATRX(NM_000489.3):c.3449A>G (p.(Gln1150Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77681807T>C" "" "likely benign" "" "0000577500" "0" "50" "X" "76937603" "76937603" "subst" "1.12498E-5" "01943" "ATRX_000235" "g.76937603T>C" "" "" "" "ATRX(NM_000489.5):c.3145A>G (p.I1049V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682111T>C" "" "VUS" "" "0000577501" "0" "30" "X" "76937657" "76937657" "subst" "5.05771E-5" "01804" "ATRX_000236" "g.76937657C>T" "" "" "" "ATRX(NM_000489.3):c.3091G>A (p.(Gly1031Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682165C>T" "" "likely benign" "" "0000577502" "0" "10" "X" "76937963" "76937963" "subst" "0.373274" "02325" "ATRX_000217" "g.76937963G>C" "" "" "" "ATRX(NM_000489.6):c.2785C>G (p.Q929E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682471=" "" "benign" "" "0000577503" "0" "30" "X" "76938004" "76938004" "subst" "1.12597E-5" "01943" "ATRX_000237" "g.76938004C>G" "" "" "" "ATRX(NM_000489.5):c.2744G>C (p.S915T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682512C>G" "" "likely benign" "" "0000577504" "0" "30" "X" "76938090" "76938090" "subst" "1.69258E-5" "01943" "ATRX_000192" "g.76938090C>G" "" "" "" "ATRX(NM_000489.3):c.2658G>C (p.(Glu886Asp)), ATRX(NM_000489.5):c.2658G>C (p.E886D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682598C>G" "" "likely benign" "" "0000577505" "0" "30" "X" "76938096" "76938096" "subst" "4.51355E-5" "01804" "ATRX_000238" "g.76938096C>G" "" "" "" "ATRX(NM_000489.3):c.2652G>C (p.(Glu884Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682604C>G" "" "likely benign" "" "0000577506" "0" "30" "X" "76938100" "76938100" "subst" "0.000304677" "01943" "ATRX_000193" "g.76938100T>C" "" "" "" "ATRX(NM_000489.3):c.2648A>G (p.(Gln883Arg)), ATRX(NM_000489.5):c.2648A>G (p.Q883R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682608T>C" "" "likely benign" "" "0000577507" "0" "30" "X" "76938423" "76938423" "subst" "0" "01943" "ATRX_000239" "g.76938423A>G" "" "" "" "ATRX(NM_000489.5):c.2325T>C (p.D775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682931A>G" "" "likely benign" "" "0000577508" "0" "30" "X" "76938579" "76938579" "subst" "0.000230555" "02326" "ATRX_000197" "g.76938579C>G" "" "" "" "ATRX(NM_000489.5):c.2169G>C (p.E723D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683087C>G" "" "likely benign" "" "0000577509" "0" "30" "X" "76938631" "76938631" "subst" "4.4981E-5" "01943" "ATRX_000240" "g.76938631C>G" "" "" "" "ATRX(NM_000489.5):c.2117G>C (p.S706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683139C>G" "" "likely benign" "" "0000577510" "0" "30" "X" "76938747" "76938747" "subst" "5.05925E-5" "02326" "ATRX_000241" "g.76938747C>T" "" "" "" "ATRX(NM_000489.5):c.2001G>A (p.P667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683255C>T" "" "likely benign" "" "0000577511" "0" "30" "X" "76938868" "76938868" "subst" "1.12157E-5" "01943" "ATRX_000242" "g.76938868C>T" "" "" "" "ATRX(NM_000489.5):c.1880G>A (p.C627Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683376C>T" "" "likely benign" "" "0000577512" "0" "30" "X" "76939115" "76939115" "subst" "0.00159044" "01804" "ATRX_000200" "g.76939115G>C" "" "" "" "ATRX(NM_000489.3):c.1633C>G (p.(Gln545Glu)), ATRX(NM_000489.5):c.1633C>G (p.Q545E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683623G>C" "" "likely benign" "" "0000577514" "0" "30" "X" "76939591" "76939591" "subst" "0" "01943" "ATRX_000244" "g.76939591G>A" "" "" "" "ATRX(NM_000489.5):c.1157C>T (p.A386V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77684099G>A" "" "likely benign" "" "0000577515" "0" "30" "X" "76939902" "76939902" "subst" "0.000778768" "02326" "ATRX_000245" "g.76939902G>A" "" "" "" "ATRX(NM_000489.5):c.846C>T (p.S282=), ATRX(NM_000489.6):c.846C>T (p.(Ser282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77684410G>A" "" "likely benign" "" "0000577516" "0" "90" "X" "76940012" "76940012" "subst" "0" "01943" "ATRX_000222" "g.76940012G>A" "" "" "" "ATRX(NM_000489.5):c.736C>T (p.R246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77684520G>A" "" "pathogenic" "" "0000577517" "0" "70" "X" "76944369" "76944369" "subst" "0" "02327" "ATRX_000246" "g.76944369T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77688876T>C" "" "likely pathogenic" "" "0000577518" "0" "50" "X" "76952118" "76952118" "subst" "0" "01804" "ATRX_000247" "g.76952118T>A" "" "" "" "ATRX(NM_000489.3):c.317A>T (p.(Asp106Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77696630T>A" "" "VUS" "" "0000577519" "0" "30" "X" "76954055" "76954055" "subst" "0.00015179" "01804" "ATRX_000248" "g.76954055T>C" "" "" "" "ATRX(NM_000489.3):c.189+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77698567T>C" "" "likely benign" "" "0000619895" "0" "30" "X" "76777847" "76777847" "subst" "9.52333E-5" "01804" "ATRX_000250" "g.76777847T>C" "" "" "" "ATRX(NM_000489.3):c.6869A>G (p.(Asn2290Ser)), ATRX(NM_000489.5):c.6869A>G (p.N2290S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77522369T>C" "" "likely benign" "" "0000619896" "0" "50" "X" "76849308" "76849308" "subst" "0.000117646" "01943" "ATRX_000231" "g.76849308A>T" "" "" "" "ATRX(NM_000489.5):c.5968T>A (p.S1990T), ATRX(NM_000489.6):c.5968T>A (p.S1990T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77593838A>T" "" "VUS" "" "0000619897" "0" "30" "X" "76849308" "76849310" "del" "0" "01943" "ATRX_000251" "g.76849308_76849310del" "" "" "" "ATRX(NM_000489.5):c.5974_5976delTCT (p.S1992del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77593838_77593840del" "" "likely benign" "" "0000619899" "0" "50" "X" "76872125" "76872125" "subst" "0" "01804" "ATRX_000252" "g.76872125G>T" "" "" "" "ATRX(NM_000489.3):c.5522C>A (p.(Ser1841Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77616657G>T" "" "VUS" "" "0000619900" "0" "30" "X" "76888892" "76888892" "subst" "0.000289528" "02326" "ATRX_000253" "g.76888892A>G" "" "" "" "ATRX(NM_000489.5):c.4957-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77633404A>G" "" "likely benign" "" "0000619901" "0" "30" "X" "76907832" "76907832" "subst" "0" "01943" "ATRX_000255" "g.76907832C>T" "" "" "" "ATRX(NM_000489.5):c.4329G>A (p.E1443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77652342C>T" "" "likely benign" "" "0000619902" "0" "30" "X" "76938204" "76938204" "subst" "0" "01943" "ATRX_000256" "g.76938204G>A" "" "" "" "ATRX(NM_000489.5):c.2544C>T (p.D848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682712G>A" "" "likely benign" "" "0000619903" "0" "30" "X" "76939021" "76939021" "subst" "0" "01804" "ATRX_000257" "g.76939021G>A" "" "" "" "ATRX(NM_000489.3):c.1727C>T (p.(Ser576Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77683529G>A" "" "likely benign" "" "0000624724" "0" "70" "X" "76889148" "76889148" "subst" "5.61602E-6" "02325" "ATRX_000254" "g.76889148G>A" "" "" "" "ATRX(NM_000489.6):c.4862C>T (p.T1621M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77633660G>A" "" "likely pathogenic" "" "0000624726" "0" "50" "X" "76937681" "76937681" "subst" "2.80642E-5" "01943" "ATRX_000183" "g.76937681C>G" "" "" "" "ATRX(NM_000489.3):c.3067G>C (p.(Glu1023Gln)), ATRX(NM_000489.5):c.3067G>C (p.E1023Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682189C>G" "" "VUS" "" "0000624803" "20" "30" "X" "76889242" "76889242" "subst" "0" "00006" "ATRX_000249" "g.76889242A>T" "" "{PMID:Dias 2019:31668703}" "" "" "variant segregating with clinical phenotype" "Germline" "yes" "" "0" "" "" "g.77633754A>T" "" "likely benign" "" "0000652952" "1" "90" "X" "76778768" "76778768" "subst" "5.60161E-6" "03575" "ATRX_000258" "g.76778768T>C" "21/2587 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs122445112}" "Germline" "" "rs122445112" "0" "" "" "g.77523290T>C" "" "pathogenic" "" "0000652953" "1" "30" "X" "76856021" "76856021" "subst" "0.00662448" "03575" "ATRX_000169" "g.76856021T>C" "3/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous; {DB:CLININrs45439799}" "Germline" "" "rs45439799" "0" "" "" "g.77600552T>C" "" "likely benign" "" "0000652954" "1" "70" "X" "76938646" "76938646" "subst" "0" "03575" "ATRX_000259" "g.76938646C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044563}" "Germline" "" "rs797044563" "0" "" "" "g.77683154C>T" "" "likely pathogenic" "" "0000659452" "0" "30" "X" "76937311" "76937311" "subst" "6.02558E-6" "01804" "ATRX_000260" "g.76937311G>T" "" "" "" "ATRX(NM_000489.3):c.3437C>A (p.(Thr1146Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77681819G>T" "" "likely benign" "" "0000659453" "0" "30" "X" "76938028" "76938028" "subst" "0.000495822" "02326" "ATRX_000190" "g.76938028C>T" "" "" "" "ATRX(NM_000489.5):c.2720G>A (p.R907Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77682536C>T" "" "likely benign" "" "0000659454" "0" "50" "X" "76940432" "76940432" "subst" "5.60695E-6" "01943" "ATRX_000261" "g.76940432T>G" "" "" "" "ATRX(NM_000489.5):c.661A>C (p.R221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.77684940T>G" "" "VUS" "" "0000660580" "21" "90" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline" "" "" "0" "" "" "g.77717155G>A" "" "pathogenic (recessive)" "" "0000660600" "21" "50" "X" "76939735" "76939735" "subst" "5.62851E-6" "00006" "ATRX_000262" "g.76939735G>C" "" "{PMID:Redin 2014:25167861}" "" "" "phenotype fits better with HCFC1 variant" "Germline" "" "" "0" "" "" "g.77684243G>C" "" "VUS" "" "0000670136" "0" "30" "X" "76856021" "76856021" "subst" "0.00662448" "03575" "ATRX_000169" "g.76856021T>C" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs45439799}" "Germline" "" "rs45439799" "0" "" "" "g.77600552T>C" "" "likely benign" "" "0000673653" "0" "70" "X" "76776337" "76776337" "subst" "0" "01164" "ATRX_000263" "g.76776337G>A" "" "" "" "" "ACMG grading: PVS1,PM2\r\nMDS/MPN with acquired alpha thalassemia, p.(Gln2377*) found at a VAF of 69% in blood lymphozytes" "Germline" "" "" "0" "" "" "g.77520859G>A" "" "likely pathogenic" "ACMG" "0000675187" "0" "70" "X" "76940000" "76940000" "subst" "0" "03753" "ATRX_000269" "g.76940000G>A" "0.035" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675215" "0" "70" "X" "76889108" "76889108" "subst" "0" "03753" "ATRX_000265" "g.76889108C>T" "0.045" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682644" "0" "30" "X" "76777847" "76777847" "subst" "9.52333E-5" "01943" "ATRX_000250" "g.76777847T>C" "" "" "" "ATRX(NM_000489.3):c.6869A>G (p.(Asn2290Ser)), ATRX(NM_000489.5):c.6869A>G (p.N2290S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682645" "0" "50" "X" "76855894" "76855894" "subst" "0" "01804" "ATRX_000264" "g.76855894C>T" "" "" "" "ATRX(NM_000489.3):c.5697+9G>A (p.(=)), ATRX(NM_000489.5):c.5697+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682646" "0" "30" "X" "76938208" "76938208" "subst" "0.00284499" "02326" "ATRX_000195" "g.76938208A>G" "" "" "" "ATRX(NM_000489.5):c.2540T>C (p.F847S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682647" "0" "50" "X" "76938346" "76938346" "subst" "0" "02326" "ATRX_000266" "g.76938346G>T" "" "" "" "ATRX(NM_000489.5):c.2402C>A (p.S801Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682648" "0" "30" "X" "76939671" "76939671" "subst" "3.98572E-5" "01943" "ATRX_000267" "g.76939671C>A" "" "" "" "ATRX(NM_000489.5):c.1077G>T (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682649" "0" "30" "X" "76939716" "76939716" "subst" "7.89008E-5" "02326" "ATRX_000268" "g.76939716G>A" "" "" "" "ATRX(NM_000489.5):c.1032C>T (p.S344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682650" "0" "10" "X" "76953085" "76953085" "subst" "0.00759168" "01804" "ATRX_000207" "g.76953085C>T" "" "" "" "ATRX(NM_000489.3):c.228G>A (p.(Ser76=)), ATRX(NM_000489.6):c.228G>A (p.S76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682752" "0" "70" "X" "76889108" "76889108" "subst" "0" "03753" "ATRX_000265" "g.76889108C>T" "0.099" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000683265" "0" "50" "X" "76939598" "76939598" "subst" "5.67334E-6" "01164" "ATRX_000271" "g.76939598T>G" "" "" "" "" "ACMG grading: PM2,PP3" "Germline" "" "rs782196033" "0" "" "" "" "" "VUS" "ACMG" "0000683293" "0" "70" "X" "76953100" "76953100" "del" "0" "00006" "ATRX_000272" "g.76953100del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77697612del" "" "likely pathogenic" "" "0000683294" "0" "70" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs122445108" "0" "" "" "g.77717155G>A" "" "likely pathogenic" "" "0000683295" "0" "70" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs122445108" "0" "" "" "g.77717155G>A" "" "likely pathogenic" "" "0000683296" "0" "70" "X" "76777868" "76777868" "subst" "0" "00006" "ATRX_000270" "g.76777868T>C" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77522390T>C" "" "likely pathogenic" "" "0000683297" "0" "70" "X" "76954084" "76954085" "dup" "0" "00006" "ATRX_000273" "g.76954084_76954085dup" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77698596_77698597dup" "" "likely pathogenic" "" "0000683298" "0" "70" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs122445108" "0" "" "" "g.77717155G>A" "" "likely pathogenic" "" "0000683363" "0" "70" "X" "76829787" "76829787" "subst" "0" "00006" "ATRX_000209" "g.76829787C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77574322C>T" "" "likely pathogenic" "" "0000683364" "0" "70" "X" "76829787" "76829787" "subst" "0" "00006" "ATRX_000209" "g.76829787C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77574322C>T" "" "likely pathogenic" "" "0000693747" "0" "30" "X" "76855073" "76855076" "dup" "0" "01943" "ATRX_000274" "g.76855073_76855076dup" "" "" "" "ATRX(NM_000489.5):c.5787-5_5787-4insGTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693748" "0" "30" "X" "76855894" "76855894" "subst" "0" "01943" "ATRX_000264" "g.76855894C>T" "" "" "" "ATRX(NM_000489.3):c.5697+9G>A (p.(=)), ATRX(NM_000489.5):c.5697+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693749" "0" "30" "X" "76907796" "76907798" "del" "0" "02325" "ATRX_000172" "g.76907796_76907798del" "" "" "" "ATRX(NM_000489.3):c.4377_4379delGGA (p.(Glu1464del)), ATRX(NM_000489.5):c.4377_4379delGGA (p.E1464del), ATRX(NM_000489.6):c.4377_4379delGGA (p.E14...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698213" "0" "90" "X" "76940012" "76940012" "subst" "0" "00006" "ATRX_000222" "g.76940012G>A" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.77684520G>A" "" "pathogenic" "" "0000698336" "0" "90" "X" "76939021" "76939021" "subst" "0" "00006" "ATRX_000220" "g.76939021G>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77683529G>T" "" "pathogenic" "ACMG" "0000698352" "21" "90" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline" "" "" "0" "" "" "g.77717155G>A" "" "pathogenic" "ACMG" "0000698373" "0" "90" "X" "76829787" "76829787" "subst" "0" "00006" "ATRX_000209" "g.76829787C>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.77574322C>T" "" "pathogenic" "ACMG" "0000729196" "0" "90" "X" "76829788" "76829788" "subst" "0" "02327" "ATRX_000275" "g.76829788G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729197" "0" "90" "X" "76849320" "76849320" "subst" "0" "02329" "ATRX_000166" "g.76849320C>T" "" "" "" "ATRX(NM_000489.5):c.5957-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729198" "0" "70" "X" "76891438" "76891438" "subst" "0" "02329" "ATRX_000276" "g.76891438A>C" "" "" "" "ATRX(NM_000489.5):c.4667T>G (p.M1556R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000729199" "0" "50" "X" "76907620" "76907620" "subst" "0" "02329" "ATRX_000277" "g.76907620C>T" "" "" "" "ATRX(NM_000489.5):c.4541G>A (p.R1514Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729200" "0" "30" "X" "76912037" "76912037" "subst" "0" "02326" "ATRX_000278" "g.76912037C>T" "" "" "" "ATRX(NM_000489.5):c.4214+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729201" "0" "30" "X" "76918956" "76918956" "subst" "0" "01943" "ATRX_000279" "g.76918956C>T" "" "" "" "ATRX(NM_000489.5):c.4035G>A (p.L1345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729202" "0" "30" "X" "76919013" "76919013" "subst" "5.09269E-5" "02326" "ATRX_000280" "g.76919013T>C" "" "" "" "ATRX(NM_000489.5):c.3978A>G (p.S1326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729203" "0" "50" "X" "76937389" "76937389" "subst" "5.65227E-6" "02329" "ATRX_000281" "g.76937389T>A" "" "" "" "ATRX(NM_000489.5):c.3359A>T (p.D1120V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729204" "0" "30" "X" "76938047" "76938047" "subst" "0.000135202" "01943" "ATRX_000191" "g.76938047T>C" "" "" "" "ATRX(NM_000489.3):c.2701A>G (p.(Ile901Val)), ATRX(NM_000489.5):c.2701A>G (p.I901V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729205" "0" "50" "X" "76938051" "76938051" "subst" "6.19834E-5" "02326" "ATRX_000282" "g.76938051C>T" "" "" "" "ATRX(NM_000489.5):c.2697G>A (p.T899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729206" "0" "10" "X" "76938153" "76938153" "subst" "0.00804887" "02327" "ATRX_000194" "g.76938153G>C" "" "" "" "ATRX(NM_000489.3):c.2595C>G (p.(His865Gln)), ATRX(NM_000489.5):c.2595C>G (p.H865Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000729207" "0" "50" "X" "76938536" "76938536" "subst" "2.25053E-5" "01943" "ATRX_000283" "g.76938536G>C" "" "" "" "ATRX(NM_000489.5):c.2212C>G (p.L738V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729208" "0" "30" "X" "76939445" "76939445" "subst" "0.000219353" "01943" "ATRX_000203" "g.76939445T>C" "" "" "" "ATRX(NM_000489.5):c.1303A>G (p.I435V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763298" "1" "70" "X" "76938646" "76938646" "subst" "0" "00006" "ATRX_000259" "g.76938646C>T" "" "{PMID:Anazi 2017:27431290}" "" "NM_138270.3:c.1988G>A" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.77683154C>T" "" "likely pathogenic" "ACMG" "0000787146" "0" "50" "X" "76909588" "76909588" "subst" "0" "00006" "ATRX_000285" "g.76909588C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.77654098C>T" "" "VUS" "" "0000787213" "0" "50" "X" "76938653" "76938653" "subst" "0" "00006" "ATRX_000286" "g.76938653C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.77683161C>G" "" "VUS" "" "0000787527" "0" "50" "X" "76777802" "76777802" "subst" "0" "00000" "ATRX_000284" "g.76777802T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.77522324T>C" "" "VUS" "" "0000797050" "20" "70" "X" "76829787" "76829787" "subst" "0" "01164" "ATRX_000209" "g.76829787C>T" "" "PMID: 24289169, PMID: 26350204, PMID: 16813605" "" "" "ACMG: PS4, PM2_SUP, PP3" "Germline" "yes" "" "" "" "" "" "VCV000372728.8" "likely pathogenic (recessive)" "ACMG" "0000810671" "0" "70" "X" "76814246" "76814246" "subst" "0" "02325" "ATRX_000287" "g.76814246A>G" "" "" "" "ATRX(NM_000489.6):c.6398T>C (p.I2133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810672" "0" "50" "X" "76872191" "76872191" "subst" "0" "02329" "ATRX_000288" "g.76872191T>A" "" "" "" "ATRX(NM_000489.5):c.5456A>T (p.D1819V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810673" "0" "30" "X" "76938747" "76938747" "subst" "5.05925E-5" "01943" "ATRX_000241" "g.76938747C>T" "" "" "" "ATRX(NM_000489.5):c.2001G>A (p.P667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810674" "0" "30" "X" "76939320" "76939320" "subst" "0" "01943" "ATRX_000289" "g.76939320C>T" "" "" "" "ATRX(NM_000489.5):c.1428G>A (p.Q476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810675" "0" "30" "X" "76939503" "76939503" "subst" "5.61892E-5" "01943" "ATRX_000290" "g.76939503G>A" "" "" "" "ATRX(NM_000489.5):c.1245C>T (p.S415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810676" "0" "30" "X" "76939902" "76939902" "subst" "0.000778768" "01943" "ATRX_000245" "g.76939902G>A" "" "" "" "ATRX(NM_000489.5):c.846C>T (p.S282=), ATRX(NM_000489.6):c.846C>T (p.(Ser282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817755" "3" "70" "X" "76855934" "76855934" "subst" "0" "00006" "ATRX_000291" "g.76855934A>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.77600465A>G" "" "likely pathogenic (recessive)" "ACMG" "0000817889" "3" "70" "X" "76875953" "76875953" "subst" "0" "00006" "ATRX_000292" "g.76875953C>G" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.77620485C>G" "" "likely pathogenic (recessive)" "ACMG" "0000856791" "0" "50" "X" "76763878" "76763878" "subst" "0" "02329" "ATRX_000293" "g.76763878G>A" "" "" "" "ATRX(NM_000489.5):c.7430C>T (p.P2477L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856792" "0" "70" "X" "76845367" "76845367" "subst" "0" "02329" "ATRX_000294" "g.76845367C>A" "" "" "" "ATRX(NM_000489.5):c.6154G>T (p.D2052Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856793" "0" "50" "X" "76891438" "76891438" "subst" "0" "02327" "ATRX_000295" "g.76891438A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856794" "0" "50" "X" "76907808" "76907810" "del" "0" "01943" "ATRX_000296" "g.76907808_76907810del" "" "" "" "ATRX(NM_000489.5):c.4359_4361delGGA (p.E1464del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856795" "0" "30" "X" "76918867" "76918867" "subst" "0.000486983" "01943" "ATRX_000174" "g.76918867T>G" "" "" "" "ATRX(NM_000489.5):c.4120+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856796" "0" "30" "X" "76918867" "76918867" "subst" "0.000486983" "02326" "ATRX_000174" "g.76918867T>G" "" "" "" "ATRX(NM_000489.5):c.4120+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856797" "0" "30" "X" "76931729" "76931729" "subst" "2.81812E-5" "01943" "ATRX_000297" "g.76931729A>G" "" "" "" "ATRX(NM_000489.5):c.3801T>C (p.P1267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856798" "0" "50" "X" "76937098" "76937098" "subst" "0" "02325" "ATRX_000298" "g.76937098C>G" "" "" "" "ATRX(NM_000489.6):c.3650G>C (p.G1217A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856799" "0" "50" "X" "76938646" "76938646" "subst" "0" "01943" "ATRX_000299" "g.76938646C>G" "" "" "" "ATRX(NM_000489.5):c.2102G>C (p.R701P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856800" "0" "50" "X" "76939120" "76939120" "subst" "0" "01943" "ATRX_000300" "g.76939120T>G" "" "" "" "ATRX(NM_000489.5):c.1628A>C (p.D543A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856801" "0" "30" "X" "76940022" "76940022" "subst" "0" "01943" "ATRX_000304" "g.76940022T>C" "" "" "" "ATRX(NM_000489.5):c.726A>G (p.K242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867566" "0" "30" "X" "76937207" "76937207" "subst" "0.00152407" "01804" "ATRX_000179" "g.76937207C>G" "" "" "" "ATRX(NM_000489.3):c.3541G>C (p.(Val1181Leu)), ATRX(NM_000489.5):c.3541G>C (p.V1181L), ATRX(NM_000489.6):c.3541G>C (p.V1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867567" "0" "30" "X" "76939244" "76939244" "subst" "5.6095E-6" "01943" "ATRX_000301" "g.76939244G>T" "" "" "" "ATRX(NM_000489.3):c.1504C>A (p.(Pro502Thr)), ATRX(NM_000489.5):c.1504C>A (p.P502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867568" "0" "30" "X" "76939300" "76939300" "subst" "8.41808E-5" "01943" "ATRX_000302" "g.76939300T>G" "" "" "" "ATRX(NM_000489.5):c.1448A>C (p.Q483P), ATRX(NM_000489.6):c.1448A>C (p.Q483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867569" "0" "30" "X" "76939368" "76939368" "subst" "0" "01943" "ATRX_000303" "g.76939368T>C" "" "" "" "ATRX(NM_000489.5):c.1380A>G (p.S460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896368" "0" "70" "X" "76776935" "76776938" "del" "0" "02327" "ATRX_000305" "g.76776935_76776938del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896369" "0" "50" "X" "76937250" "76937252" "del" "0" "02325" "ATRX_000306" "g.76937250_76937252del" "" "" "" "ATRX(NM_000489.6):c.3498_3500delAAA (p.K1169del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896370" "0" "50" "X" "76938406" "76938406" "subst" "0" "02327" "ATRX_000307" "g.76938406C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896371" "0" "50" "X" "76972719" "76972719" "subst" "0" "02325" "ATRX_000308" "g.76972719C>T" "" "" "" "ATRX(NM_000489.6):c.22G>A (p.E8K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915766" "0" "50" "X" "76919002" "76919002" "subst" "0" "02325" "ATRX_000309" "g.76919002T>C" "" "" "" "ATRX(NM_000489.6):c.3989A>G (p.E1330G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915767" "0" "50" "X" "76938647" "76938647" "subst" "5.62332E-6" "02325" "ATRX_000310" "g.76938647G>A" "" "" "" "ATRX(NM_000489.6):c.2101C>T (p.R701C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927421" "0" "50" "X" "76875983" "76875983" "subst" "0" "02329" "ATRX_000311" "g.76875983A>C" "" "" "" "ATRX(NM_000489.5):c.5152T>G (p.C1718G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939887" "0" "90" "X" "76972632" "76972632" "subst" "0" "00006" "ATRX_000224" "g.76972632G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.77717155G>A" "" "pathogenic (dominant)" "" "0000951796" "0" "50" "X" "76912108" "76912108" "subst" "5.6176E-6" "02325" "ATRX_000312" "g.76912108C>T" "" "" "" "ATRX(NM_000489.6):c.4156G>A (p.E1386K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951797" "0" "50" "X" "76938056" "76938056" "subst" "5.6345E-6" "02325" "ATRX_000313" "g.76938056C>G" "" "" "" "ATRX(NM_000489.6):c.2692G>C (p.D898H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971347" "0" "50" "X" "76918945" "76918945" "subst" "5.59895E-6" "02325" "ATRX_000175" "g.76918945T>A" "" "" "" "ATRX(NM_000489.6):c.4046A>T (p.D1349V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971348" "0" "50" "X" "76939300" "76939300" "subst" "8.41808E-5" "02325" "ATRX_000302" "g.76939300T>G" "" "" "" "ATRX(NM_000489.5):c.1448A>C (p.Q483P), ATRX(NM_000489.6):c.1448A>C (p.Q483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971350" "0" "70" "X" "76940443" "76940443" "subst" "0" "02325" "ATRX_000314" "g.76940443T>C" "" "" "" "ATRX(NM_000489.6):c.650A>G (p.D217G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984862" "0" "50" "X" "76768533" "76768533" "subst" "0" "01804" "ATRX_000315" "g.76768533G>A" "" "" "" "ATRX(NM_000489.6):c.7201-4426C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984863" "0" "30" "X" "76806933" "76806933" "subst" "0" "01804" "ATRX_000316" "g.76806933T>C" "" "" "" "ATRX(NM_000489.6):c.6699+5989A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984864" "0" "30" "X" "77021936" "77021936" "subst" "0" "01804" "ATRX_000317" "g.77021936A>G" "" "" "" "ATRX(NM_000489.6):c.20+19532T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984865" "0" "30" "X" "77034526" "77034526" "subst" "0" "01804" "ATRX_000318" "g.77034526G>A" "" "" "" "ATRX(NM_000489.6):c.20+6942C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000989524" "3" "90" "X" "76972632" "76972632" "subst" "0" "03566" "ATRX_000224" "g.76972632G>A" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.77717155G>A" "" "pathogenic (recessive)" "" "0001006966" "0" "50" "X" "76776294" "76776294" "subst" "0" "01804" "ATRX_000320" "g.76776294T>C" "" "" "" "ATRX(NM_000489.3):c.7172A>G (p.(Tyr2391Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006967" "0" "30" "X" "76849308" "76849308" "subst" "0.000117646" "02325" "ATRX_000231" "g.76849308A>T" "" "" "" "ATRX(NM_000489.5):c.5968T>A (p.S1990T), ATRX(NM_000489.6):c.5968T>A (p.S1990T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006968" "0" "50" "X" "76855907" "76855907" "subst" "0" "01804" "ATRX_000321" "g.76855907T>C" "" "" "" "ATRX(NM_000489.3):c.5693A>G (p.(Asn1898Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006969" "0" "50" "X" "76912063" "76912063" "subst" "0" "01804" "ATRX_000322" "g.76912063G>A" "" "" "" "ATRX(NM_000489.3):c.4201C>T (p.(Arg1401Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006970" "0" "30" "X" "76937836" "76937836" "subst" "0" "01804" "ATRX_000323" "g.76937836T>G" "" "" "" "ATRX(NM_000489.3):c.2912A>C (p.(Lys971Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006971" "0" "50" "X" "76937987" "76937987" "subst" "0" "01804" "ATRX_000324" "g.76937987C>A" "" "" "" "ATRX(NM_000489.3):c.2761G>T (p.(Val921Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006972" "0" "50" "X" "76938235" "76938235" "subst" "0" "01804" "ATRX_000325" "g.76938235T>C" "" "" "" "ATRX(NM_000489.3):c.2513A>G (p.(Lys838Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006973" "0" "30" "X" "76939239" "76939239" "subst" "0" "01804" "ATRX_000326" "g.76939239T>A" "" "" "" "ATRX(NM_000489.3):c.1509A>T (p.(Gln503His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006974" "0" "30" "X" "76939244" "76939244" "subst" "5.6095E-6" "01804" "ATRX_000301" "g.76939244G>T" "" "" "" "ATRX(NM_000489.3):c.1504C>A (p.(Pro502Thr)), ATRX(NM_000489.5):c.1504C>A (p.P502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017822" "21" "70" "X" "76874383" "76874383" "subst" "0" "03544" "ATRX_000327" "g.76874383A>T" "" "" "" "" "detected in a hemizygous state in an affected male and affected maternal uncle, inherited from unaffected mother" "Germline" "yes" "" "0" "" "" "g.77618915A>T" "{CV:3383973}" "likely pathogenic" "ACMG" "0001027534" "0" "50" "X" "76872091" "76872091" "subst" "0" "02329" "ATRX_000328" "g.76872091A>T" "" "" "" "ATRX(NM_000489.5):c.5556T>A (p.D1852E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027535" "0" "50" "X" "76939574" "76939574" "subst" "0" "02325" "ATRX_000205" "g.76939574G>A" "" "" "" "ATRX(NM_000489.3):c.1174C>T (p.(Leu392Phe)), ATRX(NM_000489.6):c.1174C>T (p.L392F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044511" "0" "30" "X" "76882682" "76882682" "subst" "0" "01804" "ATRX_000329" "g.76882682G>A" "" "" "" "ATRX(NM_000489.6):c.5134+6013C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044512" "0" "10" "X" "76891446" "76891446" "subst" "0.0149672" "01804" "ATRX_000330" "g.76891446A>G" "" "" "" "ATRX(NM_000489.6):c.4659T>C (p.(His1553=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044513" "0" "50" "X" "76909626" "76909626" "subst" "0" "01804" "ATRX_000331" "g.76909626G>A" "" "" "" "ATRX(NM_000489.6):c.4279C>T (p.(Arg1427Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044514" "0" "30" "X" "76937124" "76937124" "subst" "1.72864E-5" "01804" "ATRX_000332" "g.76937124T>C" "" "" "" "ATRX(NM_000489.6):c.3624A>G (p.(Ile1208Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044515" "0" "50" "X" "76937428" "76937428" "subst" "0" "01804" "ATRX_000333" "g.76937428C>T" "" "" "" "ATRX(NM_000489.6):c.3320G>A (p.(Cys1107Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044516" "0" "30" "X" "76939902" "76939902" "subst" "0.000778768" "01804" "ATRX_000245" "g.76939902G>A" "" "" "" "ATRX(NM_000489.5):c.846C>T (p.S282=), ATRX(NM_000489.6):c.846C>T (p.(Ser282=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046881" "0" "50" "X" "76939222" "76939222" "subst" "1.12143E-5" "02325" "ATRX_000334" "g.76939222G>C" "" "" "" "ATRX(NM_000489.6):c.1526C>G (p.T509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ATRX ## Count = 235 "{{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}}" "0000003062" "00000806" "30" "7631" "0" "7631" "0" "c.*152del" "r.(=)" "p.(=)" "35" "0000003063" "00000806" "30" "3736" "63" "3736" "64" "c.3736+63_3736+64del" "r.(=)" "p.(=)" "9i" "0000011043" "00000806" "30" "3736" "63" "3736" "64" "c.3736+63_3736+64del" "r.(=)" "p.(=)" "9i" "0000036706" "00000806" "70" "6975" "5" "6975" "5" "c.6975+5G>A" "r.spl?" "p.?" "32i" "0000036708" "00000806" "70" "6244" "0" "6244" "0" "c.6244G>A" "r.(?)" "p.(Asp2082Asn)" "28" "0000036846" "00000806" "90" "7264" "0" "7265" "0" "c.7264_7265insT" "r.(?)" "p.(Gln2422Leufs*29)" "35" "0000079515" "00000806" "90" "1679" "0" "1679" "0" "c.1679C>G" "r.(?)" "p.(Ser560Cys)" "9" "0000079580" "00000806" "90" "6253" "0" "6253" "0" "c.6253C>T" "r.(?)" "p.(Arg2085Cys)" "28" "0000079635" "00000806" "90" "7378" "0" "7378" "0" "c.7378dup" "r.(?)" "p.(Tyr2460Leufs*38)" "35" "0000154073" "00000806" "70" "6530" "0" "6530" "0" "c.6530A>C" "r.(?)" "p.(Asp2177Ala)" "30" "0000179031" "00000806" "50" "6863" "0" "6863" "0" "c.6863G>A" "r.(?)" "p.(Arg2288His)" "" "0000223794" "00000806" "90" "7156" "0" "7156" "0" "c.7156C>T" "r.(7156c>u)" "p.(Arg2386*)" "35" "0000223795" "00000806" "70" "6532" "0" "6532" "0" "c.6532C>T" "r.(?)" "p.(Arg2178Trp)" "" "0000244155" "00000806" "90" "533" "0" "533" "0" "c.533T>A" "r.(?)" "p.(Val178Asp)" "7" "0000244156" "00000806" "90" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ser559Leu)" "9" "0000252400" "00000806" "70" "734" "0" "734" "0" "c.734T>A" "r.(?)" "p.(Leu245Gln)" "" "0000254668" "00000806" "30" "7227" "0" "7227" "0" "c.7227T>A" "r.(?)" "p.(Leu2409=)" "" "0000259202" "00000806" "10" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Ser76=)" "" "0000259203" "00000806" "10" "4635" "0" "4635" "0" "c.4635C>A" "r.(?)" "p.(Thr1545=)" "" "0000259568" "00000806" "30" "3541" "0" "3541" "0" "c.3541G>C" "r.(?)" "p.(Val1181Leu)" "" "0000259569" "00000806" "30" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000261298" "00000806" "10" "7529" "0" "7529" "0" "c.*50A>T" "r.(=)" "p.(=)" "" "0000261299" "00000806" "30" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Ile435Val)" "" "0000261300" "00000806" "30" "1633" "0" "1633" "0" "c.1633C>G" "r.(?)" "p.(Gln545Glu)" "" "0000261301" "00000806" "30" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Pro667Leu)" "" "0000261302" "00000806" "30" "2273" "0" "2273" "0" "c.2273A>G" "r.(?)" "p.(His758Arg)" "" "0000261303" "00000806" "30" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(His865Gln)" "" "0000261304" "00000806" "10" "3736" "61" "3736" "62" "c.3736+61_3736+62del" "r.(=)" "p.(=)" "" "0000261305" "00000806" "30" "3913" "0" "3913" "0" "c.3913A>C" "r.(?)" "p.(Lys1305Gln)" "" "0000261306" "00000806" "30" "4120" "6" "4120" "6" "c.4120+6A>T" "r.(=)" "p.(=)" "" "0000261307" "00000806" "30" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000261308" "00000806" "30" "5787" "-8" "5787" "-5" "c.5787-8_5787-5del" "r.spl?" "p.?" "" "0000261309" "00000806" "30" "6871" "0" "6871" "0" "c.6871A>G" "r.(?)" "p.(Ile2291Val)" "" "0000263421" "00000806" "30" "1287" "0" "1287" "0" "c.1287C>G" "r.(?)" "p.(Thr429=)" "" "0000263422" "00000806" "50" "1366" "0" "1366" "0" "c.1366G>T" "r.(?)" "p.(Asp456Tyr)" "" "0000263423" "00000806" "10" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(His865Gln)" "" "0000263424" "00000806" "30" "2720" "0" "2720" "0" "c.2720G>A" "r.(?)" "p.(Arg907Gln)" "" "0000263426" "00000806" "50" "2830" "0" "2832" "0" "c.2830_2832del" "r.(?)" "p.(Glu944del)" "" "0000263427" "00000806" "50" "3173" "0" "3173" "0" "c.3173A>G" "r.(?)" "p.(Asp1058Gly)" "" "0000263428" "00000806" "30" "3541" "0" "3541" "0" "c.3541G>C" "r.(?)" "p.(Val1181Leu)" "" "0000263429" "00000806" "10" "4377" "0" "4379" "0" "c.4377_4379del" "r.(?)" "p.(Glu1464del)" "" "0000263430" "00000806" "10" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000263431" "00000806" "30" "6691" "0" "6691" "0" "c.6691C>T" "r.(?)" "p.(Leu2231=)" "" "0000334704" "00000806" "50" "7309" "0" "7309" "0" "c.7309A>C" "r.(?)" "p.(Met2437Leu)" "" "0000334706" "00000806" "50" "5566" "5" "5566" "5" "c.5566+5A>C" "r.spl?" "p.?" "" "0000334707" "00000806" "50" "4377" "0" "4379" "0" "c.4377_4379del" "r.(?)" "p.(Glu1464del)" "" "0000334710" "00000806" "50" "3880" "0" "3880" "0" "c.3880G>C" "r.(?)" "p.(Asp1294His)" "" "0000334711" "00000806" "50" "3505" "0" "3505" "0" "c.3505A>C" "r.(?)" "p.(Lys1169Gln)" "" "0000334713" "00000806" "50" "3067" "0" "3067" "0" "c.3067G>C" "r.(?)" "p.(Glu1023Gln)" "" "0000334717" "00000806" "50" "2787" "0" "2787" "0" "c.2787G>C" "r.(?)" "p.(Gln929His)" "" "0000334718" "00000806" "30" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Ile901Val)" "" "0000334719" "00000806" "50" "2658" "0" "2658" "0" "c.2658G>C" "r.(?)" "p.(Glu886Asp)" "" "0000334720" "00000806" "50" "2648" "0" "2648" "0" "c.2648A>G" "r.(?)" "p.(Gln883Arg)" "" "0000334721" "00000806" "30" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(His865Gln)" "" "0000334724" "00000806" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Pro667Leu)" "" "0000334725" "00000806" "50" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Lys577Glu)" "" "0000334726" "00000806" "50" "1423" "0" "1423" "0" "c.1423C>G" "r.(?)" "p.(His475Asp)" "" "0000334727" "00000806" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392Phe)" "" "0000338753" "00000806" "10" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(=)" "" "0000340455" "00000806" "10" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Ser76=)" "" "0000342224" "00000806" "90" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "" "0000342263" "00000806" "90" "6532" "0" "6532" "0" "c.6532C>T" "r.(?)" "p.(Arg2178Trp)" "" "0000342402" "00000806" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Cys)" "" "0000342752" "00000806" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Ter)" "" "0000343628" "00000806" "10" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000343962" "00000806" "70" "5387" "0" "5387" "0" "c.5387A>G" "r.(?)" "p.(Asp1796Gly)" "" "0000344285" "00000806" "90" "4721" "0" "4721" "0" "c.4721G>A" "r.(?)" "p.(Cys1574Tyr)" "" "0000345007" "00000806" "10" "2785" "0" "2785" "0" "c.2785C>G" "r.(?)" "p.(Gln929Glu)" "" "0000346395" "00000806" "70" "567" "0" "567" "0" "c.567C>G" "r.(?)" "p.(His189Gln)" "" "0000346961" "00000806" "70" "5666" "0" "5666" "0" "c.5666T>G" "r.(?)" "p.(Leu1889Trp)" "" "0000347459" "00000806" "30" "5786" "0" "5786" "0" "c.5786A>G" "r.(?)" "p.(Lys1929Arg)" "" "0000348238" "00000806" "90" "5137" "0" "5137" "0" "c.5137C>T" "r.(?)" "p.(Pro1713Ser)" "" "0000348311" "00000806" "50" "7429" "0" "7429" "0" "c.7429C>A" "r.(?)" "p.(Pro2477Thr)" "" "0000349103" "00000806" "90" "1727" "0" "1727" "0" "c.1727C>A" "r.(?)" "p.(Ser576Ter)" "" "0000349600" "00000806" "30" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Thr674Ile)" "" "0000350012" "00000806" "90" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Tyr266Cys)" "" "0000350318" "00000806" "50" "4648" "0" "4648" "0" "c.4648G>A" "r.(?)" "p.(Val1550Met)" "" "0000408021" "00000806" "00" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "" "0000408022" "00000806" "00" "6253" "0" "6253" "0" "c.6253C>T" "r.(?)" "p.(Arg2085Cys)" "" "0000408068" "00000806" "00" "7204" "0" "7204" "0" "c.7204dup" "r.(?)" "p.(Ile2402Asnfs*49)" "" "0000408092" "00000806" "00" "4696" "0" "4696" "0" "c.4696G>T" "r.(?)" "p.(Asp1566Tyr)" "" "0000408096" "00000806" "00" "2866" "0" "2868" "0" "c.2866_2868del" "r.(?)" "p.(Lys956del)" "" "0000408218" "00000806" "50" "5212" "0" "5212" "0" "c.5212A>G" "r.(?)" "p.(Ile1738Val)" "" "0000577490" "00000806" "30" "6871" "0" "6871" "0" "c.6871A>G" "r.(?)" "p.(Ile2291Val)" "" "0000577492" "00000806" "50" "6202" "0" "6202" "0" "c.6202C>T" "r.(?)" "p.(Pro2068Ser)" "" "0000577493" "00000806" "30" "5968" "0" "5968" "0" "c.5968T>A" "r.(?)" "p.(Ser1990Thr)" "" "0000577494" "00000806" "30" "5787" "-20" "5787" "-20" "c.5787-20G>T" "r.(=)" "p.(=)" "" "0000577496" "00000806" "30" "5787" "-8" "5787" "-5" "c.5787-8_5787-5del" "r.spl?" "p.?" "" "0000577497" "00000806" "30" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000577498" "00000806" "30" "5175" "0" "5175" "0" "c.5175A>G" "r.(?)" "p.(Lys1725=)" "" "0000577499" "00000806" "30" "3449" "0" "3449" "0" "c.3449A>G" "r.(?)" "p.(Gln1150Arg)" "" "0000577500" "00000806" "50" "3145" "0" "3145" "0" "c.3145A>G" "r.(?)" "p.(Ile1049Val)" "" "0000577501" "00000806" "30" "3091" "0" "3091" "0" "c.3091G>A" "r.(?)" "p.(Gly1031Ser)" "" "0000577502" "00000806" "10" "2785" "0" "2785" "0" "c.2785C>G" "r.(?)" "p.(Gln929Glu)" "" "0000577503" "00000806" "30" "2744" "0" "2744" "0" "c.2744G>C" "r.(?)" "p.(Ser915Thr)" "" "0000577504" "00000806" "30" "2658" "0" "2658" "0" "c.2658G>C" "r.(?)" "p.(Glu886Asp)" "" "0000577505" "00000806" "30" "2652" "0" "2652" "0" "c.2652G>C" "r.(?)" "p.(Glu884Asp)" "" "0000577506" "00000806" "30" "2648" "0" "2648" "0" "c.2648A>G" "r.(?)" "p.(Gln883Arg)" "" "0000577507" "00000806" "30" "2325" "0" "2325" "0" "c.2325T>C" "r.(?)" "p.(Asp775=)" "" "0000577508" "00000806" "30" "2169" "0" "2169" "0" "c.2169G>C" "r.(?)" "p.(Glu723Asp)" "" "0000577509" "00000806" "30" "2117" "0" "2117" "0" "c.2117G>C" "r.(?)" "p.(Ser706Thr)" "" "0000577510" "00000806" "30" "2001" "0" "2001" "0" "c.2001G>A" "r.(?)" "p.(Pro667=)" "" "0000577511" "00000806" "30" "1880" "0" "1880" "0" "c.1880G>A" "r.(?)" "p.(Cys627Tyr)" "" "0000577512" "00000806" "30" "1633" "0" "1633" "0" "c.1633C>G" "r.(?)" "p.(Gln545Glu)" "" "0000577514" "00000806" "30" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ala386Val)" "" "0000577515" "00000806" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ser282=)" "" "0000577516" "00000806" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Cys)" "" "0000577517" "00000806" "70" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Asn179Ser)" "" "0000577518" "00000806" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Asp106Val)" "" "0000577519" "00000806" "30" "189" "7" "189" "7" "c.189+7A>G" "r.(=)" "p.(=)" "" "0000619895" "00000806" "30" "6869" "0" "6869" "0" "c.6869A>G" "r.(?)" "p.(Asn2290Ser)" "" "0000619896" "00000806" "50" "5968" "0" "5968" "0" "c.5968T>A" "r.(?)" "p.(Ser1990Thr)" "" "0000619897" "00000806" "30" "5974" "0" "5976" "0" "c.5974_5976del" "r.(?)" "p.(Ser1992del)" "" "0000619899" "00000806" "50" "5522" "0" "5522" "0" "c.5522C>A" "r.(?)" "p.(Ser1841Tyr)" "" "0000619900" "00000806" "30" "4957" "-20" "4957" "-20" "c.4957-20T>C" "r.(=)" "p.(=)" "" "0000619901" "00000806" "30" "4329" "0" "4329" "0" "c.4329G>A" "r.(?)" "p.(Glu1443=)" "" "0000619902" "00000806" "30" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Asp848=)" "" "0000619903" "00000806" "30" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Ser576Leu)" "" "0000624724" "00000806" "70" "4862" "0" "4862" "0" "c.4862C>T" "r.(?)" "p.(Thr1621Met)" "" "0000624726" "00000806" "50" "3067" "0" "3067" "0" "c.3067G>C" "r.(?)" "p.(Glu1023Gln)" "" "0000624803" "00000806" "30" "4810" "-42" "4810" "-42" "c.4810-42T>A" "r.(?)" "p.(=)" "" "0000652952" "00000806" "90" "6811" "0" "6811" "0" "c.6811A>G" "r.(?)" "p.(Arg2271Gly)" "" "0000652953" "00000806" "30" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000652954" "00000806" "70" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Arg701His)" "" "0000659452" "00000806" "30" "3437" "0" "3437" "0" "c.3437C>A" "r.(?)" "p.(Thr1146Asn)" "" "0000659453" "00000806" "30" "2720" "0" "2720" "0" "c.2720G>A" "r.(?)" "p.(Arg907Gln)" "" "0000659454" "00000806" "50" "661" "0" "661" "0" "c.661A>C" "r.(?)" "p.(Arg221=)" "" "0000660580" "00000806" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000660600" "00000806" "50" "1013" "0" "1013" "0" "c.1013C>G" "r.(?)" "p.(Ser338Cys)" "" "0000670136" "00000806" "30" "5579" "0" "5579" "0" "c.5579A>G" "r.(?)" "p.(Asn1860Ser)" "" "0000673653" "00000806" "70" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Gln2377*)" "" "0000675187" "00000806" "70" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250*)" "" "0000675215" "00000806" "70" "4902" "0" "4902" "0" "c.4902G>A" "r.(?)" "p.(Trp1634*)" "" "0000682644" "00000806" "30" "6869" "0" "6869" "0" "c.6869A>G" "r.(?)" "p.(Asn2290Ser)" "" "0000682645" "00000806" "50" "5697" "9" "5697" "9" "c.5697+9G>A" "r.(=)" "p.(=)" "" "0000682646" "00000806" "30" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Phe847Ser)" "" "0000682647" "00000806" "50" "2402" "0" "2402" "0" "c.2402C>A" "r.(?)" "p.(Ser801Tyr)" "" "0000682648" "00000806" "30" "1077" "0" "1077" "0" "c.1077G>T" "r.(?)" "p.(Leu359=)" "" "0000682649" "00000806" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Ser344=)" "" "0000682650" "00000806" "10" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Ser76=)" "" "0000682752" "00000806" "70" "4902" "0" "4902" "0" "c.4902G>A" "r.(?)" "p.(Trp1634*)" "" "0000683265" "00000806" "50" "1150" "0" "1150" "0" "c.1150A>C" "r.(?)" "p.(Ser384Arg)" "" "0000683293" "00000806" "70" "213" "0" "213" "0" "c.213del" "r.(?)" "p.(Lys72Serfs*15)" "" "0000683294" "00000806" "70" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000683295" "00000806" "70" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000683296" "00000806" "70" "6850" "-2" "6850" "-2" "c.6850-2A>G" "r.spl" "p.?" "" "0000683297" "00000806" "70" "166" "0" "167" "0" "c.166_167dup" "r.(?)" "p.(Met56Ilefs*2)" "" "0000683298" "00000806" "70" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "" "0000683363" "00000806" "70" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "" "0000683364" "00000806" "70" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "" "0000693747" "00000806" "30" "5787" "-8" "5787" "-5" "c.5787-8_5787-5dup" "r.spl?" "p.?" "" "0000693748" "00000806" "30" "5697" "9" "5697" "9" "c.5697+9G>A" "r.(=)" "p.(=)" "" "0000693749" "00000806" "30" "4377" "0" "4379" "0" "c.4377_4379del" "r.(?)" "p.(Glu1464del)" "" "0000698213" "00000806" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Cys)" "" "0000698336" "00000806" "90" "1727" "0" "1727" "0" "c.1727C>A" "r.(?)" "p.(Ser576* )" "9" "0000698352" "00000806" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37* )" "2" "0000698373" "00000806" "90" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "28" "0000729196" "00000806" "90" "6253" "0" "6253" "0" "c.6253C>A" "r.(?)" "p.(Arg2085Ser)" "" "0000729197" "00000806" "90" "5957" "-1" "5957" "-1" "c.5957-1G>A" "r.spl?" "p.?" "" "0000729198" "00000806" "70" "4667" "0" "4667" "0" "c.4667T>G" "r.(?)" "p.(Met1556Arg)" "" "0000729199" "00000806" "50" "4541" "0" "4541" "0" "c.4541G>A" "r.(?)" "p.(Arg1514Gln)" "" "0000729200" "00000806" "30" "4214" "13" "4214" "13" "c.4214+13G>A" "r.(=)" "p.(=)" "" "0000729201" "00000806" "30" "4035" "0" "4035" "0" "c.4035G>A" "r.(?)" "p.(Leu1345=)" "" "0000729202" "00000806" "30" "3978" "0" "3978" "0" "c.3978A>G" "r.(?)" "p.(Ser1326=)" "" "0000729203" "00000806" "50" "3359" "0" "3359" "0" "c.3359A>T" "r.(?)" "p.(Asp1120Val)" "" "0000729204" "00000806" "30" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Ile901Val)" "" "0000729205" "00000806" "50" "2697" "0" "2697" "0" "c.2697G>A" "r.(?)" "p.(Thr899=)" "" "0000729206" "00000806" "10" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(His865Gln)" "" "0000729207" "00000806" "50" "2212" "0" "2212" "0" "c.2212C>G" "r.(?)" "p.(Leu738Val)" "" "0000729208" "00000806" "30" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.(Ile435Val)" "" "0000763298" "00000806" "70" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Arg701His)" "" "0000787146" "00000806" "50" "4317" "0" "4317" "0" "c.4317G>A" "r.spl" "p.?" "14" "0000787213" "00000806" "50" "2095" "0" "2095" "0" "c.2095G>C" "r.(?)" "p.(Asp699His)" "9" "0000787527" "00000806" "50" "6914" "0" "6914" "0" "c.6914A>G" "r.(?)" "p.(Gln2305Arg)" "32" "0000797050" "00000806" "70" "6254" "0" "6254" "0" "c.6254G>A" "r.(?)" "p.(Arg2085His)" "" "0000810671" "00000806" "70" "6398" "0" "6398" "0" "c.6398T>C" "r.(?)" "p.(Ile2133Thr)" "" "0000810672" "00000806" "50" "5456" "0" "5456" "0" "c.5456A>T" "r.(?)" "p.(Asp1819Val)" "" "0000810673" "00000806" "30" "2001" "0" "2001" "0" "c.2001G>A" "r.(?)" "p.(Pro667=)" "" "0000810674" "00000806" "30" "1428" "0" "1428" "0" "c.1428G>A" "r.(?)" "p.(Gln476=)" "" "0000810675" "00000806" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Ser415=)" "" "0000810676" "00000806" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ser282=)" "" "0000817755" "00000806" "70" "5666" "0" "5666" "0" "c.5666T>C" "r.(?)" "p.(Leu1889Ser)" "" "0000817889" "00000806" "70" "5182" "0" "5182" "0" "c.5182G>C" "r.(?)" "p.(Ala1728Pro)" "" "0000856791" "00000806" "50" "7430" "0" "7430" "0" "c.7430C>T" "r.(?)" "p.(Pro2477Leu)" "" "0000856792" "00000806" "70" "6154" "0" "6154" "0" "c.6154G>T" "r.(?)" "p.(Asp2052Tyr)" "" "0000856793" "00000806" "50" "4667" "0" "4667" "0" "c.4667T>C" "r.(?)" "p.(Met1556Thr)" "" "0000856794" "00000806" "50" "4359" "0" "4361" "0" "c.4359_4361del" "r.(?)" "p.(Glu1464del)" "" "0000856795" "00000806" "30" "4120" "4" "4120" "4" "c.4120+4A>C" "r.spl?" "p.?" "" "0000856796" "00000806" "30" "4120" "4" "4120" "4" "c.4120+4A>C" "r.spl?" "p.?" "" "0000856797" "00000806" "30" "3801" "0" "3801" "0" "c.3801T>C" "r.(?)" "p.(Pro1267=)" "" "0000856798" "00000806" "50" "3650" "0" "3650" "0" "c.3650G>C" "r.(?)" "p.(Gly1217Ala)" "" "0000856799" "00000806" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Pro)" "" "0000856800" "00000806" "50" "1628" "0" "1628" "0" "c.1628A>C" "r.(?)" "p.(Asp543Ala)" "" "0000856801" "00000806" "30" "726" "0" "726" "0" "c.726A>G" "r.(?)" "p.(Lys242=)" "" "0000867566" "00000806" "30" "3541" "0" "3541" "0" "c.3541G>C" "r.(?)" "p.(Val1181Leu)" "" "0000867567" "00000806" "30" "1504" "0" "1504" "0" "c.1504C>A" "r.(?)" "p.(Pro502Thr)" "" "0000867568" "00000806" "30" "1448" "0" "1448" "0" "c.1448A>C" "r.(?)" "p.(Gln483Pro)" "" "0000867569" "00000806" "30" "1380" "0" "1380" "0" "c.1380A>G" "r.(?)" "p.(Ser460=)" "" "0000896368" "00000806" "70" "7018" "0" "7021" "0" "c.7018_7021del" "r.(?)" "p.(Asn2340Valfs*2)" "" "0000896369" "00000806" "50" "3498" "0" "3500" "0" "c.3498_3500del" "r.(?)" "p.(Lys1169del)" "" "0000896370" "00000806" "50" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781Gln)" "" "0000896371" "00000806" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Glu8Lys)" "" "0000915766" "00000806" "50" "3989" "0" "3989" "0" "c.3989A>G" "r.(?)" "p.(Glu1330Gly)" "" "0000915767" "00000806" "50" "2101" "0" "2101" "0" "c.2101C>T" "r.(?)" "p.(Arg701Cys)" "" "0000927421" "00000806" "50" "5152" "0" "5152" "0" "c.5152T>G" "r.(?)" "p.(Cys1718Gly)" "" "0000939887" "00000806" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Ter)" "2" "0000951796" "00000806" "50" "4156" "0" "4156" "0" "c.4156G>A" "r.(?)" "p.(Glu1386Lys)" "" "0000951797" "00000806" "50" "2692" "0" "2692" "0" "c.2692G>C" "r.(?)" "p.(Asp898His)" "" "0000971347" "00000806" "50" "4046" "0" "4046" "0" "c.4046A>T" "r.(?)" "p.(Asp1349Val)" "" "0000971348" "00000806" "50" "1448" "0" "1448" "0" "c.1448A>C" "r.(?)" "p.(Gln483Pro)" "" "0000971350" "00000806" "70" "650" "0" "650" "0" "c.650A>G" "r.(?)" "p.(Asp217Gly)" "" "0000984862" "00000806" "50" "7201" "-4426" "7201" "-4426" "c.7201-4426C>T" "r.(=)" "p.(=)" "" "0000984863" "00000806" "30" "6699" "5989" "6699" "5989" "c.6699+5989A>G" "r.(=)" "p.(=)" "" "0000984864" "00000806" "30" "20" "19532" "20" "19532" "c.20+19532T>C" "r.(=)" "p.(=)" "" "0000984865" "00000806" "30" "20" "6942" "20" "6942" "c.20+6942C>T" "r.(=)" "p.(=)" "" "0000989524" "00000806" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Ter)" "" "0001006966" "00000806" "50" "7172" "0" "7172" "0" "c.7172A>G" "r.(?)" "p.(Tyr2391Cys)" "" "0001006967" "00000806" "30" "5968" "0" "5968" "0" "c.5968T>A" "r.(?)" "p.(Ser1990Thr)" "" "0001006968" "00000806" "50" "5693" "0" "5693" "0" "c.5693A>G" "r.(?)" "p.(Asn1898Ser)" "" "0001006969" "00000806" "50" "4201" "0" "4201" "0" "c.4201C>T" "r.(?)" "p.(Arg1401Trp)" "" "0001006970" "00000806" "30" "2912" "0" "2912" "0" "c.2912A>C" "r.(?)" "p.(Lys971Thr)" "" "0001006971" "00000806" "50" "2761" "0" "2761" "0" "c.2761G>T" "r.(?)" "p.(Val921Phe)" "" "0001006972" "00000806" "50" "2513" "0" "2513" "0" "c.2513A>G" "r.(?)" "p.(Lys838Arg)" "" "0001006973" "00000806" "30" "1509" "0" "1509" "0" "c.1509A>T" "r.(?)" "p.(Gln503His)" "" "0001006974" "00000806" "30" "1504" "0" "1504" "0" "c.1504C>A" "r.(?)" "p.(Pro502Thr)" "" "0001017822" "00000806" "70" "5339" "0" "5339" "0" "c.5339T>A" "r.(?)" "p.(Phe1780Tyr)" "21" "0001027534" "00000806" "50" "5556" "0" "5556" "0" "c.5556T>A" "r.(?)" "p.(Asp1852Glu)" "" "0001027535" "00000806" "50" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Leu392Phe)" "" "0001044511" "00000806" "30" "5134" "6013" "5134" "6013" "c.5134+6013C>T" "r.(=)" "p.(=)" "" "0001044512" "00000806" "10" "4659" "0" "4659" "0" "c.4659T>C" "r.(?)" "p.(=)" "" "0001044513" "00000806" "50" "4279" "0" "4279" "0" "c.4279C>T" "r.(?)" "p.(Arg1427Cys)" "" "0001044514" "00000806" "30" "3624" "0" "3624" "0" "c.3624A>G" "r.(?)" "p.(Ile1208Met)" "" "0001044515" "00000806" "50" "3320" "0" "3320" "0" "c.3320G>A" "r.(?)" "p.(Cys1107Tyr)" "" "0001044516" "00000806" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Ser282=)" "" "0001046881" "00000806" "50" "1526" "0" "1526" "0" "c.1526C>G" "r.(?)" "p.(Thr509Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003062" "0000000209" "0000003063" "0000000210" "0000011043" "0000016808" "0000036706" "0000016809" "0000036708" "0000016899" "0000036846" "0000050535" "0000079515" "0000050600" "0000079580" "0000050655" "0000079635" "0000095508" "0000154073" "0000111874" "0000179031" "0000134106" "0000223794" "0000134107" "0000223795" "0000150999" "0000244155" "0000151000" "0000244156" "0000184052" "0000408021" "0000184053" "0000408022" "0000184099" "0000408068" "0000184123" "0000408092" "0000184127" "0000408096" "0000184213" "0000408218" "0000266458" "0000624803" "0000296263" "0000652952" "0000296264" "0000652953" "0000296265" "0000652954" "0000297880" "0000660580" "0000297884" "0000660600" "0000306448" "0000670136" "0000307088" "0000673653" "0000308283" "0000675187" "0000308287" "0000675215" "0000308400" "0000682752" "0000308832" "0000683265" "0000308859" "0000683293" "0000308860" "0000683294" "0000308861" "0000683295" "0000308862" "0000683296" "0000308863" "0000683297" "0000308864" "0000683298" "0000308929" "0000683363" "0000308930" "0000683364" "0000316087" "0000698213" "0000316186" "0000698336" "0000316202" "0000698352" "0000316223" "0000698373" "0000362924" "0000763298" "0000375688" "0000787527" "0000375795" "0000787146" "0000375862" "0000787213" "0000383064" "0000797050" "0000388962" "0000817755" "0000389096" "0000817889" "0000441945" "0000939887" "0000454635" "0000989524" "0000459717" "0001017822"