### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMARCB1) # 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}}" "SMARCB1" "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1" "22" "q11.23" "unknown" "NG_009303.1" "UD_132118692280" "" "https://www.LOVD.nl/SMARCB1" "" "1" "11103" "6598" "601607" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/SMARCB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-12-03 14:26:32" "00000" "2025-09-23 17:17:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019423" "SMARCB1" "transcript variant 1" "001" "NM_003073.3" "" "NP_003064.2" "" "" "" "-207" "1496" "1158" "24129150" "24176705" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00001" "JBS" "Johanson-Blizzard syndrome (JBS)" "AR" "243800" "" "" "" "00001" "2012-05-16 14:39:33" "00006" "2021-12-10 21:51:32" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00003" "JBTS13" "Joubert syndrome, type 13 (JBTS13)" "AR" "614173" "" "" "" "00006" "2012-05-17 22:48:47" "00006" "2021-12-10 21:51:32" "00004" "KTZS" "Kohlschutter-Tonz syndrome" "AR" "226750" "" "" "" "00002" "2012-05-23 08:55:16" "00006" "2021-12-10 21:51:32" "00005" "MDDGC5;LGMDR9;LGMD2I" "dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I)" "AR" "607155" "" "" "" "00006" "2012-06-11 11:22:53" "00006" "2024-01-12 21:52:26" "00006" "IVA" "isovaleric acidemia (IVA)" "AR" "243500" "" "" "" "00001" "2012-06-15 15:58:49" "00001" "2021-07-01 15:09:07" "00007" "LCCS1" "contracture syndrome, lethal, congenital, type 1" "AR" "253310" "" "" "" "00006" "2012-06-29 14:23:06" "00006" "2023-08-06 22:40:03" "00008" "CAAHD" "arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)" "AR" "611890" "" "" "" "00006" "2012-06-29 14:23:57" "00006" "2020-07-21 21:34:09" "00009" "EPM1A" "epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)" "AR" "254800" "" "" "" "00006" "2012-06-29 14:54:52" "00006" "2020-11-13 09:46:33" "00010" "MCLMR" "microcephaly with/without chorioretinopathy, lymphedema, or mental retardation (MCLMR)" "AD" "152950" "" "" "" "00006" "2012-06-29 16:51:23" "00006" "2020-02-10 09:10:25" "00011" "USH3B" "Usher syndrome, type 3B (USH-3B)" "AR" "614504" "" "" "" "00006" "2012-06-29 17:09:32" "00006" "2021-12-10 21:51:32" "00012" "PSORS" "psoriasis, pustular, generalized (PSORS)" "" "" "" "" "" "00006" "2012-07-06 21:50:32" "00006" "2019-08-12 13:38:21" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00156" "CSS" "Coffin-Siris syndrome (CSS)" "" "" "" "" "" "00001" "2013-06-27 15:22:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00409" "UL" "leiomyoma, uterine (UL)" "" "150699" "" "" "" "00006" "2014-06-08 10:22:37" "00006" "2015-11-16 08:14:00" "00436" "SWNTS1" "Schwannomatosis, type 1 (SWNTS-1)" "" "162091" "" "" "" "00006" "2014-06-28 22:11:59" "00006" "2021-12-10 21:51:32" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00755" "RTPS1" "tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1)" "" "609322" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00756" "CSS3;MRD15" "Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15))" "AD" "614608" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01432" "CMM2" "melanoma, cutaneous, malignant, susceptibility to, type 2 (CMM-2)" "AD" "155601" "" "" "" "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" "02532" "RCCP1" "carcinoma, renal cell, papillary, type 1 (RCCP-1)" "" "605074" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02638" "meningioma" "meningioma, familial, susceptibility to" "AD" "607174" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-26 15:18:15" "05092" "ULMS" "leiomyosarcoma, uterine (ULMS)" "" "" "" "" "" "00006" "2015-10-23 12:49:17" "" "" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05389" "SWNTS" "Schwannomatosis (SWNTS)" "" "" "" "" "" "00006" "2018-02-01 14:09:26" "" "" "05465" "del 22q11.2" "chromosome deletion syndrome 22q11.2, distal" "" "611867" "" "" "" "00008" "2018-08-04 00:00:12" "00006" "2022-09-08 15:28:52" "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 = 6 "{{geneid}}" "{{diseaseid}}" "SMARCB1" "00139" "SMARCB1" "00156" "SMARCB1" "00436" "SMARCB1" "00755" "SMARCB1" "00756" "SMARCB1" "05389" ## Individuals ## Do not remove or alter this header ## ## Count = 353 "{{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}}" "00001503" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00001504" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00001511" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat18" "00001514" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001521" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "M" "" "" "" "0" "" "" "" "Pat28;Pat10" "00001522" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "M" "" "" "" "0" "" "" "" "Pat29;Pat11" "00001526" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat33" "00001529" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "M" "" "" "" "0" "" "" "" "Pat37" "00001532" "" "" "" "1" "" "00074" "" "" "F" "" "" "" "" "" "" "" "" "00001535" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}" "" "F" "" "" "" "0" "" "" "" "Pat43" "00001539" "" "" "" "1" "" "00074" "" "" "M" "" "" "" "" "" "" "" "" "00001541" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "F" "" "" "" "0" "" "" "" "Pat49;Pat32" "00001542" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}" "" "F" "" "" "" "0" "" "" "" "Pat50;Pat33" "00001546" "" "" "" "1" "" "00074" "{PMID:Santen 2013:23929686}, {PMID:van der Sluijs 2019:30349098}, van der Sluijs 2024 (submitted)" "" "F" "" "" "" "0" "" "" "" "Pat55;Pat39;Pat329" "00037154" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037155" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037156" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037157" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037158" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00048023" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "F" "" "Japan" "" "0" "" "" "" "Pat4;Pat4" "00048024" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "F" "" "Japan" "" "0" "" "" "" "Pat21;Pat21" "00048025" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat22;Pat22" "00048026" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2014:23815551}" "" "M" "" "Japan" "" "0" "" "" "" "Pat29" "00048027" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2014:23815551}" "" "?" "" "Japan" "" "0" "" "" "" "Pat37" "00048028" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2014:23815551}" "" "?" "" "Japan" "" "0" "" "" "" "Pat48" "00048029" "" "" "" "1" "" "01358" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "F" "" "Japan" "" "0" "" "" "" "Pat11;Pat11" "00048030" "" "" "" "1" "" "01358" "{PMID:Wieczorek 2013:23906836}" "" "M" "" "" "" "" "" "" "" "K2426" "00048031" "" "" "" "1" "" "01358" "{PMID:Wieczorek 2013:23906836}" "" "M" "" "" "" "0" "" "" "" "K2588" "00050617" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00104564" "" "" "" "1" "" "01975" "Author submited" "" "M" "no" "France" "00y21m" "0" "" "" "" "Patient 2" "00107735" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107736" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107737" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107738" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107739" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107740" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107741" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107742" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107743" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107744" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107745" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107746" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107747" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107748" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107749" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107750" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107751" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107752" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107753" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107754" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107755" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107756" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107811" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107812" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107813" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107814" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107815" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107816" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107817" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107818" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107819" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107820" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107821" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107822" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107823" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107824" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107825" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107826" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107827" "" "" "" "1" "" "02150" "" "" "?" "" "Germany" "" "0" "" "" "" "" "00107828" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107829" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107830" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00107831" "" "" "" "1" "" "02150" "" "" "" "" "Germany" "" "0" "" "" "" "" "00147123" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat88_S3" "00173920" "" "" "" "1" "" "00008" "{PMID:Ammerlaan AC 2008:18087273}" "" "M" "" "" "" "0" "" "" "" "Family 9 : III1" "00173921" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "22" "00173922" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "23" "00173923" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "2" "00173924" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "6" "00173925" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "12" "00173926" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "13" "00173927" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "14" "00173928" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "17" "00173929" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "02-066" "00173930" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00173931" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "" "F" "" "" "2y" "0" "" "" "" "Family 7" "00173932" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00173933" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "09-131" "00173934" "" "" "" "1" "" "00008" "{PMID:Metts 2017:28111898}" "" "F" "" "" "" "0" "" "" "" "Single patients" "00173935" "" "" "" "1" "" "00008" "SMARCB1 database" "" "F" "" "" "" "0" "" "" "" "" "00173936" "" "" "" "1" "" "00008" "SMARCB1 database" "" "F" "" "" "" "0" "" "" "" "" "00173937" "" "" "" "1" "" "00008" "SMARCB1 database" "" "" "" "" "" "0" "" "" "" "" "00173938" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "" "F" "" "" "02y" "0" "" "" "" "IV.2" "00173939" "" "" "" "1" "" "00008" "{PMID:Taylor MD 2000:10739763 }" "" "M" "" "" "" "0" "" "" "" "" "00173940" "" "" "" "1" "" "00008" "{PMID:Janson K 2006:16261613}" "" "M" "" "" "" "0" "" "" "" "" "00173941" "" "" "" "1" "" "00008" "{PMID:Janson K 2006:16261613}" "" "M" "" "" "" "0" "" "" "" "" "00173942" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "M" "" "" "" "0" "" "" "" "9F1" "00173943" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "M" "" "" "" "0" "" "" "" "10F1" "00173944" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "F" "" "" "" "0" "" "" "" "11F1" "00173945" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "F" "" "" "" "0" "" "" "" "13F2" "00173947" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "M" "" "" "" "0" "" "" "" "14F2" "00173948" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "M" "" "" "" "0" "" "" "" "19F5" "00173949" "" "" "" "1" "" "00008" "{PMID:Kordes U 2014:24123847}" "" "F" "" "" "" "0" "" "" "" "" "00173950" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "M" "" "" "" "0" "" "" "" "F 3.1 Family 3" "00173951" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "F" "" "" "" "0" "" "" "" "F4.1 Family 4" "00173952" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "M" "" "" "" "0" "" "" "" "F5.1 Family 5" "00173953" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "F" "" "" "" "0" "" "" "" "F5.2 Family 5" "00173954" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "Family 8 : III1" "00173955" "" "" "" "1" "" "00008" "{PMID:Fujisawa H 2005:15981100}" "" "F" "" "" "" "0" "" "" "" "case16" "00173956" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "F" "" "" "" "0" "" "" "" "" "00173958" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "" "" "" "" "0" "" "" "" "" "00173959" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "" "" "" "" "0" "" "" "" "" "00173960" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "98-074" "00173961" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "07-367" "00173962" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "08-187" "00173963" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-223" "00173964" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "06-249" "00173965" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "04-064" "00173966" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "01-247" "00173967" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "06-216" "00173969" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "07-313" "00173970" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "09-289" "00173971" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-312" "00173972" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "" "00173973" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-359" "00173974" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-261" "00173975" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-013" "00173976" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "F" "" "" "" "0" "" "" "" "" "00173977" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00173978" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00173980" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00173981" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00173982" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00173983" "" "" "" "1" "" "00008" "{PMID:Biegel JA 1999:9892189}" "" "" "" "" "" "0" "" "" "" "" "00173984" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173985" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173986" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173987" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173988" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173989" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173991" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173992" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00173993" "" "" "" "1" "" "00008" "{PMID:Fujisawa H 2005:15981100}" "" "F" "" "" "" "0" "" "" "" "case12" "00173994" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "F" "" "" "" "0" "" "" "" "20F6" "00173995" "" "" "" "1" "" "00008" "{PMID:Kordes U 2014:24123847}" "" "M" "" "" "" "0" "" "" "" "" "00173996" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "08-192" "00173997" "" "" "" "1" "" "00008" "{PMID:Modena P 2013:23510391}" "" "M" "" "" "" "0" "" "" "" "" "00173998" "" "" "" "1" "" "00008" "{PMID:Beddow RA 2011:23063575}" "" "M" "" "" "" "0" "" "" "" "" "00173999" "" "" "" "1" "" "00008" "{PMID:Lafay-Cousin L 2009:19938088}" "" "M" "" "" "" "0" "" "" "" "" "00174000" "" "" "" "1" "" "00008" "{PMID:Kerl K 2016:27092963}" "" "M" "" "" "" "0" "" "" "" "" "00174001" "" "" "" "1" "" "00008" "{PMID:Carter JM 2012:22082606}" "" "M" "" "" "" "0" "" "" "" "Family 6" "00174002" "" "" "" "1" "" "00008" "{PMID:Jackson EM 2007:17541642}" "" "F" "" "" "" "0" "" "" "" "" "00174003" "" "" "" "1" "" "00008" "{PMID:Carter JM 2012:22082606}" "" "M" "" "" "" "0" "" "" "" "Family 6" "00174004" "" "" "" "1" "" "00008" "{PMID:Ammerlaan AC 2008:18087273}" "" "M" "" "" "" "0" "" "" "" "Family 9 : III4" "00174005" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "1" "00174006" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "18" "00174007" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "F" "" "" "" "0" "" "" "" "" "00174008" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "?" "" "" "" "0" "" "" "" "" "00174009" "" "" "" "1" "" "00008" "{PMID:Taylor MD 2000:10739763 }" "" "M" "" "" "2y" "0" "" "" "" "" "00174010" "" "" "" "1" "" "00008" "{PMID:Ibrahim GM 2011:21918902}" "" "M" "" "" "" "0" "" "" "" "" "00174011" "" "" "" "1" "" "00008" "{PMID:Ammerlaan AC 2008:18087273}" "" "M" "" "" "" "0" "" "" "" "Family 9 : III3" "00174012" "" "" "" "1" "" "00008" "{PMID:Johann PD 2016:27380723}" "" "F" "" "" "" "0" "" "" "" "" "00174013" "" "" "" "1" "" "00008" "SMARCB1 database" "" "F" "" "" "" "0" "" "" "" "" "00174078" "" "" "" "1" "" "00008" "{PMID:Le Loarer 2014:24585572}" "" "" "" "" "" "0" "" "" "" "ES6" "00174079" "" "" "" "1" "" "00008" "{PMID:Christiaans I 2011:20930055}" "" "F" "" "" "" "0" "" "" "" "Family 1 : II9" "00174090" "" "" "" "1" "" "00008" "{PMID:Christiaans I 2011:20930055}" "" "F" "" "" "" "0" "" "" "" "Family 1 : III1" "00174091" "" "" "" "1" "" "00008" "{PMID:Christiaans I 2011:20930055}" "" "F" "" "" "" "0" "" "" "" "Family 1 : III6" "00174092" "" "" "" "1" "" "00008" "{PMID:Melean G 2012:22752724}" "" "F" "" "" "" "0" "" "" "" "Fam2" "00174093" "" "" "" "1" "" "00008" "{PMID:Bacci C 2010:19582488 }" "" "F" "" "" "" "0" "" "" "" "Family 4" "00174099" "" "" "" "1" "" "00008" "{PMID:Chakrapani AL 2012:22814326}" "" "F" "" "" "" "0" "" "" "" "" "00174100" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "" "" "" "" "0" "" "" "" "" "00174101" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "08-304" "00174102" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "01-135" "00174103" "" "" "" "1" "" "00008" "EUHRAB" "" "M" "" "" "" "0" "" "" "" "30155" "00174104" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "3" "00174105" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "M" "" "" "" "0" "" "" "" "F3.2 Family 3" "00174106" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "4" "00174107" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "10" "00174108" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "16" "00174109" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "24" "00174110" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "25" "00174112" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "M" "" "" "" "0" "" "" "" "F4.2 Family 4" "00174113" "" "" "" "1" "" "00008" "{PMID:Fernandez 2002:11812951}" "" "F" "" "" "" "0" "" "" "" "" "00174114" "" "" "" "1" "" "00008" "{PMID:Forest F 2012:23154773}" "" "M" "" "" "" "0" "" "" "" "Single patients" "00174115" "" "" "" "1" "" "00008" "{PMID:Toth G 2011:21412926}" "" "" "" "" "" "0" "" "" "" "" "00174116" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "07-158" "00174117" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "08-092" "00174118" "" "" "" "1" "" "00008" "{PMID:Bosse KR 2014:25018128}" "" "M" "" "" "" "0" "" "" "" "" "00174186" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "F" "" "" "" "0" "" "" "" "motherF5" "00174187" "" "" "" "1" "" "00008" "{PMID:Kordes U 2014:24123847}" "" "F" "" "" "" "0" "" "" "" "" "00174188" "" "" "" "1" "" "00008" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "F" "" "" "" "0" "" "" "" "" "00174189" "" "" "" "1" "" "00008" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "M" "" "" "" "0" "" "" "" "" "00174190" "" "" "" "1" "" "00008" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "M" "" "" "" "0" "" "" "" "" "00174192" "" "" "" "1" "" "00008" "{PMID:Janson K 2006:16261613}" "" "F" "" "" "" "0" "" "" "" "" "00174193" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "first family reported with co-occuring MRT + schwannomatosis" "M" "" "" "" "0" "" "" "" "" "00174194" "" "" "" "1" "" "00008" "{PMID:Carter JM 2012:22082606}" "" "F" "" "" "" "0" "" "" "" "" "00174195" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "no evidence of disease at 39y" "F" "" "" "" "0" "" "" "" "IV3" "00174196" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "no evidence of disease at 31y" "F" "" "" "" "0" "" "" "" "IV7" "00174197" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "no evidence of disease at 24y" "F" "" "" "" "0" "" "" "" "IV8" "00174198" "" "" "" "1" "" "00008" "{PMID:Taylor MD 2000:10739763 }" "" "F" "" "" "" "0" "" "" "" "" "00174199" "" "" "" "1" "" "00008" "{PMID:Ammerlaan AC 2008:18087273}" "" "M" "" "" "" "0" "" "" "" "" "00174200" "" "" "" "1" "" "00008" "{PMID:Ammerlaan AC 2008:18087273}" "" "M" "" "" "" "0" "" "" "" "" "00174201" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "19" "00174203" "" "" "" "1" "" "00008" "{PMID:Bruggers CS 2011:20848638}" "" "M" "" "" "" "0" "" "" "" "FatherF1" "00174204" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "no evidence of disease at 27y" "F" "" "" "" "0" "" "" "" "Family 4" "00174218" "" "" "" "1" "" "00008" "{PMID:Gigante L 2016:26342593}" "aborted" "" "" "" "" "0" "" "" "" "" "00174219" "" "" "" "1" "" "00008" "{PMID:Lee HY 2002:12016529}" "" "F" "" "" "" "0" "" "" "" "" "00174220" "" "" "" "1" "" "00008" "{PMID:Jackson EM 2007:17541642}" "" "M" "" "" "" "0" "" "" "" "" "00174221" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "09-044" "00174222" "" "" "" "1" "" "00008" "{PMID:Savla J 2000:10772683}" "" "?" "" "" "" "0" "" "" "" "" "00174224" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "00-214" "00174225" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00174226" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "" "" "" "" "0" "" "" "" "" "00174227" "" "" "" "1" "" "00008" "{PMID:Fujisawa H 2003:12892231}" "" "F" "" "" "" "0" "" "" "" "" "00174228" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00174229" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10556283}" "" "" "" "" "" "0" "" "" "" "" "00174230" "" "" "" "1" "" "00008" "{PMID:Fujita M 2005:15881754}" "" "M" "" "" "" "0" "" "" "" "" "00174232" "" "" "" "1" "" "00008" "{PMID:Sévenet N 1999:10521299}" "" "F" "" "" "" "0" "" "" "" "" "00174233" "" "" "" "1" "" "00008" "{PMID:Seeringer A 2014:25262118}" "" "F" "" "" "" "0" "" "" "" "" "00174234" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "7" "00174235" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "15" "00174236" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "19" "00174237" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "20" "00174238" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "21" "00174240" "" "" "" "1" "" "00008" "{PMID:Gigante L 2016:26342593}" "" "M" "" "" "" "0" "" "" "" "" "00174241" "" "" "" "1" "" "00008" "SMARCB1 database" "" "M" "" "" "" "0" "" "" "" "" "00174242" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00174243" "" "" "" "1" "" "00008" "{PMID:Jackson EM 2007:17541642}" "" "M" "" "" "" "0" "" "" "" "" "00174244" "" "" "" "1" "" "00008" "{PMID:Kordes 2010:19902524}" "" "?" "" "" "" "0" "" "" "" "" "00174245" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "51510" "00174246" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00174247" "" "" "" "1" "" "00008" "{PMID:Jackson EM 2007:17541642}" "" "M" "" "" "" "0" "" "" "" "" "00174249" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "8" "00174250" "" "" "" "1" "" "00008" "{PMID:Bourdeaut F 2011:21208904}" "" "" "" "" "" "0" "" "" "" "11" "00174251" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "05-136" "00174252" "" "" "" "1" "" "00008" "{PMID:Lee HY 2002:12016529}" "" "" "" "" "" "0" "" "" "" "" "00174253" "" "" "" "1" "" "00008" "{PMID:Wieser R 2005:15957176}" "" "M" "" "" "" "0" "" "" "" "" "00174254" "" "" "" "1" "" "00008" "{PMID:Biegel JA 1999:9892189}" "" "" "" "" "" "0" "" "" "" "50340-1" "00174255" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00174256" "" "" "" "1" "" "00008" "{PMID:Biegel JA 1999:9892189}" "" "" "" "" "" "0" "" "" "" "" "00174257" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "F" "" "" "" "0" "" "" "" "00-189" "00174258" "" "" "" "1" "" "00008" "{PMID:Jackson EM 2007:17541642}" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00174259" "" "" "" "1" "" "00008" "{PMID:Biegel JA 2002:12429635}" "" "" "" "" "" "0" "" "" "" "" "00174286" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 2007:17357086}" "" "F" "" "" "" "0" "" "" "" "" "00174287" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "M" "" "" "" "0" "" "" "" "I1, Fam1" "00174288" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "F" "" "" "" "0" "" "" "" "II1, Fam1" "00174289" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "M" "" "" "" "0" "" "" "" "II3, Fam1" "00174290" "" "" "" "1" "" "00008" "{PMID:Wu J 2015:26342709}" "" "M" "" "" "" "0" "" "" "" "" "00174291" "" "" "" "1" "" "00008" "{PMID:Wu J 2015:26342709}" "" "F" "" "" "" "0" "" "" "" "" "00174292" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam3, Pat1" "00174293" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam3, Pat2" "00174294" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam3, Pat3" "00174295" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam3, Pat4" "00174296" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 2007:17357086}" "" "M" "" "" "" "0" "" "" "" "" "00174297" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "M" "" "" "" "0" "" "" "" "II1, Fam2" "00174298" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "M" "" "" "" "0" "" "" "" "II2, Fam2" "00174299" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "M" "" "" "" "0" "" "" "" "I1, Fam2" "00174300" "" "" "" "1" "" "00008" "{PMID:Bacci C 2010:19582488 }" "" "M" "" "" "" "0" "" "" "" "" "00174301" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "first family reported with co-occuring MRT + schwannomatosis" "F" "" "" "" "0" "" "" "" "" "00174302" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "first family reported with co-occuring MRT + schwannomatosis" "M" "" "" "" "0" "" "" "" "" "00174303" "" "" "" "1" "" "00008" "{PMID:Swensen JJ 2009:19124645}" "first family reported with co-occuring MRT + schwannomatosis" "M" "" "" "" "0" "" "" "" "" "00174304" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "Fam4" "00174305" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "Fam4" "00174306" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "Fam9" "00174307" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 2014:24525513}" "" "F" "" "" "" "0" "" "" "" "" "00174308" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "Fam9" "00174309" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "Fam9" "00174310" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "PA-1" "00174311" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "PA-1" "00174312" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "E" "00174313" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "E" "00174314" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "11" "00174315" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "11" "00174316" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "PA-3" "00174317" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "PA-3" "00174318" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 2014:24525513}" "" "F" "" "" "" "0" "" "" "" "" "00174319" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "PA-3" "00174320" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "19" "00174321" "" "" "" "1" "" "00008" "{PMID:Carter JM 2012:22082606}" "" "F" "" "" "" "0" "" "" "" "" "00174322" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "" "" "" "" "0" "" "" "" "I2" "00174323" "" "" "" "1" "" "00008" "{PMID:Eaton KW 2011:21108436}" "" "M" "" "" "" "0" "" "" "" "II1" "00174324" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam4" "00174325" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "Fam5" "00174326" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "" "" "0" "" "" "" "" "00174327" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2012:22434358}" "" "" "" "" "" "0" "" "" "" "" "00174328" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2012:22434358}" "" "" "" "" "" "0" "" "" "" "" "00174329" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 010,:19912265}" "first case of germ line mosaicism in schwannomatosis" "M" "" "" "" "0" "" "" "" "II2" "00174330" "" "" "" "1" "" "00008" "{PMID:Sestini R 2008:18072270}" "" "M" "" "" "" "0" "" "" "" "" "00174331" "" "" "" "1" "" "00008" "{PMID:Hadfield KD 2008:18285426}" "" "?" "" "" "" "0" "" "" "" "sporad10" "00174332" "" "" "" "1" "" "00008" "{PMID:Rousseau G 2011:21255467}" "" "F" "" "" "" "0" "" "" "" "" "00174333" "" "" "" "1" "" "00008" "{PMID:Rousseau G 2011:21255467}" "" "M" "" "" "" "0" "" "" "" "" "00174334" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2012:22434358}" "" "" "" "" "" "0" "" "" "" "" "00174335" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00174336" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00174337" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00174338" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 2016:26799435}" "" "M" "" "" "" "0" "" "" "" "" "00174339" "" "" "" "1" "" "00008" "{PMID:Hulsebos TJ 010,:19912265}" "" "M" "" "" "" "0" "" "" "" "II1" "00174340" "" "" "" "1" "" "00008" "{PMID:Paganini I 2015:26001331}" "" "F" "" "" "" "0" "" "" "" "" "00174341" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "3" "00174342" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "3" "00174343" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "M" "" "" "" "0" "" "" "" "5" "00174344" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "5" "00174345" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "10" "00174346" "" "" "" "1" "" "00008" "{PMID:Boyd 2008:18647326}" "" "F" "" "" "" "0" "" "" "" "10" "00174347" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2014:24933152}" "" "" "" "" "" "0" "" "" "" "" "00174348" "" "" "" "1" "" "00008" "{PMID:Gossai N 2015:26364901}" "" "M" "" "" "" "0" "" "" "" "" "00174349" "" "" "" "1" "" "00008" "{PMID:Asai K 2015:25631985}" "" "" "" "" "" "0" "" "" "" "" "00174350" "" "" "" "1" "" "00008" "{PMID:Melean G 2012:22752724}" "" "M" "" "" "" "0" "" "" "" "Fam1" "00174351" "" "" "" "1" "" "00008" "{PMID:Asai K 2015:25631985}" "" "" "" "" "" "0" "" "" "" "" "00174352" "" "" "" "1" "" "00008" "{PMID:Asai K 2015:25631985}" "" "" "" "" "" "0" "" "" "" "" "00174353" "" "" "" "1" "" "00008" "{PMID:Melean G 2012:22752724}" "" "M" "" "" "" "0" "" "" "" "Fam1" "00174354" "" "" "" "1" "" "00008" "{PMID:Melean G 2012:22752724}" "" "M" "" "" "" "0" "" "" "" "Fam2" "00174355" "" "" "" "1" "" "00008" "{PMID:Christiaans I 2011:20930055}" "" "M" "" "" "" "0" "" "" "" "II6" "00174356" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "F" "" "" "" "0" "" "" "" "III12" "00174357" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "F" "" "" "" "0" "" "" "" "III15" "00174358" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "III16" "00174359" "" "" "" "1" "" "00008" "{PMID:Melean G 2012:22752724}" "" "M" "" "" "" "0" "" "" "" "Fam1" "00174360" "" "" "" "1" "" "00008" "{PMID:Bacci C 2010:19582488 }" "" "M" "" "" "" "0" "" "" "" "" "00174361" "" "" "" "1" "" "00008" "{PMID:Bacci C 2010:19582488 }" "" "M" "" "" "" "0" "" "" "" "" "00174362" "" "" "" "1" "" "00008" "{PMID:Smith MJ 2012:22434358}" "" "" "" "" "" "0" "" "" "" "" "00174363" "" "" "" "1" "" "00008" "{PMID:Rousseau G 2011:21255467}" "" "M" "" "" "" "0" "" "" "" "" "00174364" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "F" "" "" "" "0" "" "" "" "III17" "00174365" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "IV2" "00174366" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "IV4" "00174367" "" "" "" "1" "" "00008" "{PMID:Christiaans I 2011:20930055}" "" "F" "" "" "" "0" "" "" "" "III7" "00174368" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "II3" "00174369" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "III1" "00174370" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "F" "" "" "" "0" "" "" "" "III7" "00174371" "" "" "" "1" "" "00008" "{PMID:van den Munckhof P 2012:22038540}" "" "M" "" "" "" "0" "" "" "" "III10" "00207794" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00266479" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Argentina" "" "00293072" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304892" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00315038" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1166" "00402449" "" "" "" "1" "" "04260" "Perez-Becerril et al. (submitted for publication)" "" "" "" "" "" "" "" "" "" "" "00416242" "" "" "" "1" "" "00006" "{PMID:Monroe 2016:26845106}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat8" "00434774" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat116" "00434775" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat117" "00434776" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat118" "00434777" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat119" "00434778" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat120" "00434779" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat121" "00434780" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat122" "00434990" "" "" "" "1" "" "01358" "" "" "M" "" "Netherlands" "" "" "" "" "" "Manuscript_Valencia-etal_2023_2369" "00441729" "" "" "" "2" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "2-generation family, 2 affected sisters" "" "" "" "" "0" "" "" "" "Pat39" "00441730" "" "" "00441729" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "sister" "" "" "" "" "0" "" "" "" "Pat40" "00441731" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat41" "00441732" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat42" "00441733" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "" "" "" "" "" "0" "" "" "" "Pat43" "00441734" "" "" "" "1" "" "01358" "{PMID:van der Sluijs 2022:35579625}" "fetus" "" "" "" "" "0" "" "" "" "Pat44" "00453016" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2012:22726846}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "KS47" "00461047" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 384 "{{individualid}}" "{{diseaseid}}" "00001503" "00001" "00001503" "00002" "00001503" "00003" "00001503" "00004" "00001503" "00005" "00001503" "00006" "00001503" "00007" "00001503" "00008" "00001503" "00009" "00001503" "00010" "00001503" "00011" "00001503" "00012" "00001503" "00156" "00001504" "00156" "00001511" "00156" "00001514" "00156" "00001521" "00156" "00001522" "00156" "00001526" "00156" "00001529" "00156" "00001532" "00156" "00001535" "00156" "00001539" "00156" "00001541" "00156" "00001542" "00156" "00001546" "00156" "00037154" "00198" "00037156" "00198" "00037157" "00198" "00037158" "00198" "00048023" "00156" "00048024" "00156" "00048025" "00156" "00048026" "00156" "00048027" "00156" "00048028" "00156" "00048029" "00156" "00048030" "00156" "00048031" "00156" "00050617" "00198" "00104564" "00755" "00107735" "00755" "00107736" "00755" "00107737" "00755" "00107738" "00755" "00107739" "00755" "00107740" "00755" "00107741" "00755" "00107742" "00755" 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"00174289" "05389" "00174290" "05389" "00174291" "05389" "00174292" "05389" "00174293" "05389" "00174294" "05389" "00174295" "05389" "00174296" "05389" "00174297" "05389" "00174298" "05389" "00174299" "05389" "00174300" "05389" "00174301" "05389" "00174302" "05389" "00174303" "05389" "00174304" "05389" "00174305" "05389" "00174306" "05389" "00174307" "05389" "00174308" "05389" "00174309" "05389" "00174310" "05389" "00174311" "05389" "00174312" "05389" "00174313" "05389" "00174314" "05389" "00174315" "05389" "00174316" "05389" "00174317" "05389" "00174318" "00409" "00174318" "05389" "00174319" "05389" "00174320" "05389" "00174321" "05389" "00174322" "05389" "00174323" "05389" "00174324" "05389" "00174325" "05389" "00174326" "05389" "00174327" "05389" "00174328" "05389" "00174329" "05389" "00174330" "05389" "00174331" "05389" "00174332" "05389" "00174333" "05389" "00174334" "05389" "00174335" "05389" "00174336" "05389" "00174337" "05389" "00174338" "02532" "00174338" "05389" "00174339" "05389" "00174340" "05092" "00174340" "05389" "00174341" "05389" "00174342" "05389" "00174343" "05389" "00174344" "05389" "00174345" "05389" "00174346" "05389" "00174347" "05389" "00174348" "00156" "00174348" "05389" "00174349" "05389" "00174350" "05389" "00174351" "05389" "00174352" "05389" "00174353" "05389" "00174354" "05389" "00174355" "02638" "00174356" "02638" "00174356" "05389" "00174357" "02638" "00174357" "05389" "00174358" "02638" "00174358" "05389" "00174359" "02638" "00174359" "05389" "00174360" "02638" "00174360" "05389" "00174361" "02638" "00174361" "05389" "00174362" "05389" "00174363" "02638" "00174363" "05389" "00174364" "02638" "00174364" "05389" "00174365" "02638" "00174365" "05389" "00174366" "02638" "00174366" "05389" "00174367" "02638" "00174368" "02638" "00174368" "05389" "00174369" "02638" "00174369" "05389" "00174370" "02638" "00174370" "05389" "00174371" "02638" "00174371" "05389" "00266479" "05093" "00293072" "00198" "00304892" "00198" "00307257" "01544" "00315038" "00198" "00402449" "01432" "00402449" "05389" "00416242" "00139" "00434774" "05611" "00434775" "05611" "00434776" "05611" "00434777" "05611" "00434778" "05611" "00434779" "05611" "00434780" "05611" "00434990" "00156" "00441729" "00156" "00441730" "00156" "00441731" "00156" "00441732" "00156" "00441733" "00156" "00441734" "00156" "00453016" "00668" "00461047" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00001, 00002, 00003, 00004, 00005, 00006, 00007, 00008, 00009, 00010, 00011, 00012, 00139, 00156, 00198, 00409, 00436, 00668, 00755, 00756, 01432, 01544, 02532, 02638, 05092, 05093, 05162, 05389, 05465, 05611 ## Count = 350 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000000685" "00156" "00001503" "00074" "Isolated (sporadic)" "40y" "brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023);" "" "a terme" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000686" "00156" "00001504" "00074" "Isolated (sporadic)" "06y" "brith 34w+1, weight SD -1.8, OFC 27.3 cm; afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney; seizures onset 5y, low frequency; spherophakia, optic pits, alacrimia, myopia severe -9D (HP:0011003); no hypotonia; birth feeding problems ongoing; multifocal seizures (HP:0031165); abnormal vision (HP:0000504); hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no wide mouth (-HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237); no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric hypertrophy; dextrocardia; kidney abnormality (HP:0000077); corpus callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003);" "" "34 1/7" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000693" "00156" "00001511" "00074" "Isolated (sporadic)" "09y09m" "brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545);" "" "37" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000696" "00156" "00001514" "00074" "Isolated (sporadic)" "20y06m" "brith 40w, weight SD 0.5, OFC SD 0; camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma); generalized hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); borderline intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); wrinkling skin (HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum;" "" "40" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000703" "00156" "00001521" "00074" "Isolated (sporadic)" "11y" "brith 40w, weight SD -1.9; Cryptorchidism,Hernia umbilicus; MRI-brain delayed myelinisation; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; anger outbursts; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); absent 5th distal phalanx; multiple small nails (incl. 5th);; ; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274);" "" "40 weeks" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000704" "00156" "00001522" "00074" "Isolated (sporadic)" "06y08m" "brith 37w, weight SD 1, OFC 54 cm; Light skin, inquinal hernia (on right side), Umbilical hernia, Pes planus, Short neck; myopia -2.5D (HP:0000545); hypotonia; <6m-feeding problems brief; eczema (HP:0000964); no cutis marmorata (-HP:0000965); abnormal EEG (HP:0002353); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; asocial, troubles in contacts with his peers, aggression; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); agenesis corpus callosum (HP:0001274); myopia (HP:0000545);" "" "37" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000708" "00156" "00001526" "00074" "Isolated (sporadic)" "10y" "brith 40w, weight SD 0; no seizures (-HP:0001250); severe speech delay (HP:0000750); severe intellectual disability; friendly personality; anteverted nares (HP:0000463); small nails (HP:0001792); markedly delayed bone age (HP:0003799);; ; joint laxity (HP:0001388); congenital hirschprung disease; no cardiac abnormality (-HP:0001627); corpus callosum agenesis (HP:0001274);" "" "40" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000711" "00156" "00001529" "00074" "Isolated (sporadic)" "10y11m" "brith 38w, weight SD -3, microcephaly; neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia; seizures onset 10y; anisometropic amblyopia, nr optic nerve hypoplasia (too unwell to be investigated); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); pyloric stenosis and inguinal hernia; dextrocardia; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; pyloric stenosis (HP:0002021); inguinal hernia (HP:0000023); myopia (HP:0000545);" "" "38" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000714" "00156" "00001532" "00074" "Isolated (sporadic)" "06y06m" "brith 40w+5, weight SD -1; hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration; normal vision; no hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); glue ear; severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no small nails (-HP:0001792); accelerated bone age (HP:0002805), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274);" "" "40+5" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000717" "00156" "00001535" "00074" "Isolated (sporadic)" "13y04m" "brith 39w, weight SD -1.3, OFC 49 cm; tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal;" "" "39" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000721" "00156" "00001539" "00074" "Isolated (sporadic)" "01y" "brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589);" "" "38" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000723" "00156" "00001541" "00074" "Isolated (sporadic)" "15y" "brith 42w, weight SD -3; Tracheomalacia in infancy; birth feeding problems; no seizures (-HP:0001250); mild speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); no delayed bone age (-HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);" "" "42" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000724" "00156" "00001542" "00074" "Isolated (sporadic)" "04y" "brith 42w, weight SD -1.2; myopia -4.5D (HP:0000545); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545);" "" "42" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000000728" "00156" "00001546" "00074" "Isolated (sporadic)" "13y" "brith 38w, weight SD -0.3, OFC 34 cm; myopia severe -11D (HP:0011003); hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); moderate intellectual disability; hypersociablility; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), normal fine motor skills (-HP:0010862); abnormal lacrimal duct (HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); hypoplastic 5th distal phalanx; small nails 5th only;; ; hypoplastic phalanges fingers/toes; partial agenesis corpus callosum; severe myopia (HP:0011003);" "" "38" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000037229" "00198" "00050617" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, global developmental delay, seizures, microcephaly, abnormal facial shape, agenesis of corpus callosum, cerebellar hypoplasia, broad finger, broad toe, abnormality of the fingertips, hypertrichosis, unilateral ptosis, hypothyroidism, persistence of primary teeth, limited shoulder movement, delayed eruption of teeth, short philtrum, wide mouth, thick lower lip vermilion, brachycephaly, brittle scalp hair, slow-growing hair, lumbosacral hirsutism, hyperlordosis, thoracic kyphosis, scoliosis, coarse facial features" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043106" "00156" "00048023" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043107" "00156" "00048024" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043108" "00156" "00048025" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043109" "00156" "00048026" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043110" "00156" "00048027" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043111" "00156" "00048028" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043112" "00156" "00048029" "01358" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000043113" "00156" "00048030" "01358" "Isolated (sporadic)" "" "see paper; ..., birth 33w; intellectual disability; 30m-walk; no speech; no hypotonia; seizures [y]; vision problem; hearing loss; frequent infections; feeding problems; hyperactivity; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; macroglossia; no short philtrum; no long philtrum; small auditory canal; no cleft palate; a/hypoplasia distal phalanges V (2-4); no prominent distal phalanges; sandal gap; delayed bone age; scoliosis; cryptorchidism; VSD, ASD, pulmonic stenosis; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; bilateral nail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; pylorus stenosis" "" "" "00y04m" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000043114" "00156" "00048031" "01358" "Isolated (sporadic)" "" "see paper; ..., birth 39w; intellectual disability; 7m-sit; 10m-first words; no hypotonia; no frequent infections; feeding problems; coarse face; low frontal hairline; no synophrys; thick eyebrows; long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; no abnormal ears; no cleft palate; no a/hypoplasia distal phalanges V; no short metacarpals/metatarsals; no prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; no scoliosis; no cryptorchidism; no congenital heart disease; no body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; no nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; abnormal corpus callosum; umbilical hernia" "" "" "00y11m" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000082481" "00755" "00104564" "01975" "Isolated (sporadic)" "" "" "" "" "00y08m" "" "" "" "" "" "" "" "" "" "" "" "0000085499" "00755" "00107735" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085500" "00755" "00107736" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085501" "00755" "00107737" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085502" "00755" "00107738" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085503" "00755" "00107739" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085504" "00755" "00107740" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085505" "00755" "00107741" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085506" "00755" "00107742" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085507" "00755" "00107743" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085508" "00755" "00107744" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085509" "00755" "00107745" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085510" "00755" "00107746" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085511" "00755" "00107747" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085512" "00755" "00107749" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085513" "00755" "00107750" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085514" "00755" "00107751" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085515" "00755" "00107752" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085516" "00755" "00107753" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085517" "00755" "00107754" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085518" "00755" "00107755" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085519" "00755" "00107756" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085573" "00755" "00107811" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085576" "00755" "00107812" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085577" "00755" "00107813" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085578" "00755" "00107814" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085579" "00755" "00107815" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085580" "00755" "00107816" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085581" "00755" "00107817" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085582" "00755" "00107818" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085583" "00755" "00107819" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085584" "00755" "00107820" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085585" "00755" "00107821" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085586" "00755" "00107822" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085587" "00755" "00107823" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085588" "00755" "00107824" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085589" "00755" "00107825" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085590" "00755" "00107826" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085591" "00755" "00107827" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085592" "00755" "00107828" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085593" "00755" "00107829" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085594" "00755" "00107830" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085595" "00755" "00107831" "02150" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138838" "00156" "00174348" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS" "" "" "0000138900" "00198" "00174007" "00008" "Familial" "" "Brain tumor" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138901" "00198" "00174008" "00008" "Familial" "" "Brain tumor" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138902" "00198" "00174009" "00008" "Familial" "" "Brain tumor/ posterior fossa" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138903" "00198" "00174010" "00008" "Familial" "" "Cribriform neuroepithelial tumor (CRINET)/ it" "21m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138904" "00198" "00174011" "00008" "Familial" "" "Cribriform neuroepithelial tumor (CRINET)/ st" "1y8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138905" "00198" "00174012" "00008" "Familial" "" "Cribriform neuroepithelial tumor (CRINET)/ st" "10y9m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138906" "00198" "00174013" "00008" "Familial" "" "Cribriform neuroepithelial tumor (CRINET)/ st" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138907" "00198" "00174078" "00008" "Familial" "" "Epitheloid sarcoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138909" "00198" "00174099" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / cutaneous paraspinal" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138910" "00198" "00174100" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / neck" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138911" "00198" "00174101" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / extra-renal" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138912" "00198" "00174102" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / extra-renal" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138913" "00198" "00174103" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / skrotal re" "5d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138914" "00198" "00174104" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / orbita" "0m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138915" "00198" "00174105" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / Thorax" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138916" "00198" "00174106" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / thorax" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138917" "00198" "00174107" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / pelvis" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138918" "00198" "00174108" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / leg" "0m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138919" "00198" "00174109" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / thorax" "8y5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138920" "00198" "00174110" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / retroperitoneum" "24y8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138922" "00198" "00174112" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / paraspinal" "7y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138923" "00198" "00174113" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / dorsal epidural" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138924" "00198" "00174114" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) paravertebral (at 8y) / Conventional Chondrosarcoma mandibular (at 13y)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138925" "00198" "00174116" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / multiple extra-renal" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138926" "00198" "00174117" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / extra-renal" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138927" "00198" "00174118" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / bladder" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138928" "00198" "00174203" "00008" "Familial" "" "no evidence of disease besides \"\"dermatofibroma\"\" (trunk and extreities) - but not clarified/validated" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138929" "00198" "00174218" "00008" "Familial" "" "" "<0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138930" "00198" "00174220" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / RTK/ axilla, mediastinum, liver, kidney" "1m7d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138931" "00198" "00174222" "00008" "Familial" "" "RTK/brain tumor (\"\"CNS tumor\"\"): kidney, CNS" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138932" "00198" "00174229" "00008" "Familial" "" "RTK/brain tumor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138934" "00198" "00174232" "00008" "Familial" "" "RTK/brain tumor (\"\"PNET\"\"): kidney, it" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138935" "00198" "00174234" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) multifocal" "0m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138937" "00198" "00174249" "00008" "Familial" "" "RTK" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138938" "00198" "00174250" "00008" "Familial" "" "RTK" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138939" "00198" "00174251" "00008" "Familial" "" "RTK: kidney" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138940" "00198" "00174252" "00008" "Familial" "" "RTK: kidney" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138941" "00198" "00174254" "00008" "Familial" "" "RTK: kidney, bilateral" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138942" "00198" "00174255" "00008" "Familial" "" "RTK: kidney" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138943" "00198" "00174256" "00008" "Familial" "" "RTK: kidney" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138944" "00198" "00174257" "00008" "Familial" "" "RTK: kidney" "24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138945" "00198" "00174258" "00008" "Familial" "03y" "Cleft palate, gastroesophageal reflux, upslanting palpebral fissures, epicanthal folds, simple ears, facial asymmetry, mild tapering of fingers, VSD, developmental delay, hearing loss" "" "" "05y" "" "" "" "" "" "" "" "" "" "left renal rhabdoid tumor, metastatic to the right ventricle of the heart and lungs" "" "0000138946" "00198" "00174259" "00008" "Familial" "" "RTK: kidney" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138973" "00755" "00173920" "00008" "Familial" "" "myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy" "4y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138974" "00755" "00173921" "00008" "Familial" "" "" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138975" "00755" "00173922" "00008" "Familial" "" "" "25m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138976" "00755" "00173923" "00008" "Familial" "" "" "29m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138977" "00755" "00173924" "00008" "Familial" "" "" "14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138978" "00755" "00173925" "00008" "Familial" "" "" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138979" "00755" "00173926" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138980" "00755" "00173927" "00008" "Familial" "" "" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138981" "00755" "00173928" "00008" "Familial" "" "" "24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138982" "00755" "00173929" "00008" "Familial" "" "" "48m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138983" "00755" "00173930" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138984" "00755" "00173931" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138985" "00755" "00173932" "00008" "Familial" "" "" "10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138986" "00755" "00173933" "00008" "Familial" "" "" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138987" "00755" "00173934" "00008" "Familial" "" "AML/ it" "11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138988" "00755" "00173935" "00008" "Familial" "" "it" "10y7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138989" "00755" "00173936" "00008" "Familial" "" "it + spinal metastases" "1y4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138990" "00755" "00173937" "00008" "Familial" "" "" "4y4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138991" "00755" "00173938" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138992" "00755" "00173939" "00008" "Familial" "" "it" "18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138993" "00755" "00173940" "00008" "Familial" "" "it" "17m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138994" "00755" "00173941" "00008" "Familial" "" "it" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138995" "00755" "00173942" "00008" "Familial" "" "it" "42m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138996" "00755" "00173943" "00008" "Familial" "" "" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138997" "00755" "00173944" "00008" "Familial" "" "st" "46m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138998" "00755" "00173945" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000138999" "00755" "00173947" "00008" "Familial" "" "" "21d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139000" "00755" "00173948" "00008" "Familial" "" "" "4m15d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139001" "00755" "00173949" "00008" "Familial" "" "it" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139002" "00755" "00173950" "00008" "Familial" "" "" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139003" "00755" "00173951" "00008" "Familial" "" "" "12m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139004" "00755" "00173952" "00008" "Familial" "" "" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139005" "00755" "00173953" "00008" "Familial" "" "" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139006" "00755" "00173954" "00008" "Familial" "" "" "2m8d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139007" "00755" "00173955" "00008" "Familial" "" "" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139008" "00755" "00173956" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139009" "00755" "00173958" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139010" "00755" "00173959" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139011" "00755" "00173960" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139012" "00755" "00173961" "00008" "Familial" "" "" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139013" "00755" "00173962" "00008" "Familial" "" "" "11m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139014" "00755" "00173963" "00008" "Familial" "" "" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139015" "00755" "00173964" "00008" "Familial" "" "" "21m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139016" "00755" "00173965" "00008" "Familial" "" "" "48m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139017" "00755" "00173966" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139018" "00755" "00173967" "00008" "Familial" "" "" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139019" "00755" "00173969" "00008" "Familial" "" "" "10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139020" "00755" "00173970" "00008" "Familial" "" "" "14d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139021" "00755" "00173971" "00008" "Familial" "" "" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139022" "00755" "00173972" "00008" "Familial" "" "" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139023" "00755" "00173973" "00008" "Familial" "" "" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139024" "00755" "00173974" "00008" "Familial" "" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139025" "00755" "00173975" "00008" "Familial" "" "" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139026" "00755" "00173976" "00008" "Familial" "" "it" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139027" "00755" "00173977" "00008" "Familial" "" "" "22m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139028" "00755" "00173978" "00008" "Familial" "" "" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139029" "00755" "00173980" "00008" "Familial" "" "" "4m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139030" "00755" "00173981" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139031" "00755" "00173982" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139032" "00755" "00173983" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139033" "00755" "00173984" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139034" "00755" "00173985" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139035" "00755" "00173986" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139036" "00755" "00173987" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139037" "00755" "00173988" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139038" "00755" "00173989" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139039" "00755" "00173991" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139040" "00755" "00173992" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139041" "00755" "00173993" "00008" "Familial" "" "" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139042" "00755" "00173994" "00008" "Familial" "" "it" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139043" "00755" "00173995" "00008" "Familial" "" "it" "6y6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139044" "00755" "00173996" "00008" "Familial" "" "" "14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139045" "00755" "00173997" "00008" "Familial" "" "Klinefelter Syndrome" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139046" "00755" "00173998" "00008" "Familial" "" "it" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139047" "00755" "00173999" "00008" "Familial" "" "st" "12m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139048" "00755" "00174000" "00008" "Familial" "" "it" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139049" "00755" "00174001" "00008" "Familial" "" "it" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139050" "00755" "00174002" "00008" "Familial" "" "spinal cord" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139051" "00755" "00174003" "00008" "Familial" "" "it" "18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139052" "00755" "00174004" "00008" "Familial" "" "it" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139053" "00755" "00174005" "00008" "Familial" "" "" "28m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139054" "00755" "00174006" "00008" "Familial" "" "" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139055" "00755" "00174219" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / it lung, pleura" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139056" "00755" "00174221" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT)" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139058" "00755" "00174224" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT)" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139059" "00755" "00174225" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / CNS, thoracic" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139060" "00755" "00174226" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / CNS, cardiac" "1m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139061" "00755" "00174227" "00008" "Familial" "" "RTK: CNS, kidney: CNS, kidney" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139062" "00755" "00174228" "00008" "Familial" "" "RTK" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139063" "00755" "00174230" "00008" "Familial" "" "multiple sites: it intraocular" "1m7d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139064" "00755" "00174233" "00008" "Familial" "" "st preorbital" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139065" "00755" "00174235" "00008" "Familial" "" "RTK" "7m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139066" "00755" "00174236" "00008" "Familial" "" "RTK" "5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139067" "00755" "00174237" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT)" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139068" "00755" "00174238" "00008" "Familial" "" "RTK" "3m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139070" "00755" "00174240" "00008" "Familial" "" "RTK: right kidney, metastases pulmonal + pleural, cerebral lesions" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139071" "00755" "00174241" "00008" "Familial" "" "RTK: metachronic RTK with CNS & pulmonary “metastasis”" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139072" "00755" "00174242" "00008" "Familial" "" "RTK" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139073" "00755" "00174243" "00008" "Familial" "" "RTK: it kidney" "6m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139074" "00755" "00174244" "00008" "Familial" "" "RTK" "2m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139075" "00755" "00174245" "00008" "Familial" "" "RTK" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139076" "00755" "00174246" "00008" "Familial" "" "RTK" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139077" "00755" "00174247" "00008" "Familial" "" "RTK/ ERRT; st kidney, elbow" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139084" "02638" "00174079" "00008" "Familial" "" "1 spinal" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139095" "02638" "00174090" "00008" "Familial" "" "1 spinal" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139096" "02638" "00174091" "00008" "Familial" "" "psammomatous; spinal" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139097" "02638" "00174092" "00008" "Familial" "" "1 cranial" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139098" "02638" "00174093" "00008" "Familial" "" "4 cranial" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139103" "02638" "00174355" "00008" "Familial" "" "meningeoma multiple spinal, schwannoma vestibular" "56y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139104" "02638" "00174356" "00008" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139105" "02638" "00174357" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139106" "02638" "00174358" "00008" "Familial" "" "" "62y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139107" "02638" "00174360" "00008" "Familial" "" "cranial" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139108" "02638" "00174361" "00008" "Familial" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139109" "02638" "00174364" "00008" "Familial" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139110" "02638" "00174365" "00008" "Familial" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139111" "02638" "00174366" "00008" "Familial" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139112" "02638" "00174367" "00008" "Familial" "" "1 spinal, multiple cranial, schwannoma multiple: spinal, chest wall, elbow; (transitional/mixed cranial, fibroblastic" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139113" "02638" "00174368" "00008" "Familial" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139114" "02638" "00174369" "00008" "Familial" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139115" "02638" "00174370" "00008" "Familial" "" "" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139116" "02638" "00174371" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139117" "05389" "00174286" "00008" "Familial" "" "multiple sites" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139118" "05389" "00174287" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139119" "05389" "00174288" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139120" "05389" "00174289" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139121" "05389" "00174290" "00008" "Familial" "" "spinal" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139122" "05389" "00174291" "00008" "Familial" "" "vestibularis" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139123" "05389" "00174292" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139124" "05389" "00174293" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139125" "05389" "00174294" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139126" "05389" "00174295" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139127" "05389" "00174296" "00008" "Familial" "" "multiple sites" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139128" "05389" "00174297" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139129" "05389" "00174298" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139130" "05389" "00174299" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139131" "05389" "00174300" "00008" "Familial" "" "PNS" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139132" "05389" "00174301" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139133" "05389" "00174302" "00008" "Familial" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139134" "05389" "00174303" "00008" "Familial" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139135" "05389" "00174304" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139136" "05389" "00174305" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139137" "05389" "00174306" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139138" "05389" "00174307" "00008" "Familial" "" "history of multiple schwannomas" "61y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139139" "05389" "00174308" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139140" "05389" "00174309" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139141" "05389" "00174310" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139142" "05389" "00174311" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139143" "05389" "00174312" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139144" "05389" "00174313" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139145" "05389" "00174314" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139146" "05389" "00174315" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139147" "05389" "00174316" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139148" "05389" "00174317" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139149" "05389" "00174318" "00008" "Familial" "" "spinal, PNS, vaginal" "14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139150" "05389" "00174319" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139151" "05389" "00174320" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139152" "05389" "00174321" "00008" "Familial" "" "(neuroblastoma-like morphology); MPNST within the schwannoma, leg" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139153" "05389" "00174322" "00008" "Familial" "" "Schwannoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139154" "05389" "00174323" "00008" "Familial" "" "Schwannoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139155" "05389" "00174324" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139156" "05389" "00174325" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139157" "05389" "00174326" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139158" "05389" "00174327" "00008" "Familial" "" "familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139159" "05389" "00174328" "00008" "Familial" "" "familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139160" "05389" "00174329" "00008" "Familial" "" "four spinal" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139161" "05389" "00174330" "00008" "Familial" "" "multiple sites" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139162" "05389" "00174331" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139163" "05389" "00174332" "00008" "Isolated (sporadic)" "" "11 non-vestibular" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139164" "05389" "00174333" "00008" "Isolated (sporadic)" "" "unilateral V-, VII- and spinal schwannomas" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139165" "05389" "00174334" "00008" "Isolated (sporadic)" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139166" "05389" "00174335" "00008" "Isolated (sporadic)" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139167" "05389" "00174336" "00008" "Isolated (sporadic)" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139168" "05389" "00174337" "00008" "Isolated (sporadic)" "" "sporadic" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139169" "05389" "00174338" "00008" "Familial" "" "multiple schwannomas" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139170" "05389" "00174339" "00008" "Familial" "" "one spinal" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139171" "05389" "00174340" "00008" "Familial" "" "" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139172" "05389" "00174341" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139173" "05389" "00174342" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139174" "05389" "00174343" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139175" "05389" "00174344" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139176" "05389" "00174345" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139177" "05389" "00174346" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139178" "05389" "00174347" "00008" "Familial" "" "familial / Malignant peripheral nerve sheath tumor (MPNST)" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139179" "05389" "00174349" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139180" "05389" "00174350" "00008" "Familial" "" "6 spinal, 7 PNS, multiple cutaneous" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139181" "05389" "00174351" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139182" "05389" "00174352" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139183" "05389" "00174353" "00008" "Familial" "" "1 sciatic, 1 cellular, 6 spinal, 1 orbital, 4 PNS, multiple" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139184" "05389" "00174354" "00008" "Familial" "" "multiple spinal" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139185" "05389" "00174359" "00008" "Familial" "" "schwannoma: 2 spinal, 1 mandibular, multiple subcutaneous" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139186" "05389" "00174362" "00008" "Isolated (sporadic)" "" "multiple schwannomas, 1 meningeoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139187" "05389" "00174363" "00008" "Familial" "" "multiple schwannomas and meningeomas" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139188" "05465" "00174115" "00008" "Familial" "" "Malignant rhabdoid tumor of the soft tissue (MRT) / at birth" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139189" "05465" "00174253" "00008" "Familial" "" "RTK: kidney" "8m" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139190" "00409" "00174318" "00008" "Familial" "" "leimoyoma of uterine cervix" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139191" "02532" "00174338" "00008" "Familial" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139192" "02638" "00174359" "00008" "Familial" "" "(fibroblastic) spinal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139193" "02638" "00174363" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139194" "05092" "00174340" "00008" "Familial" "" "uterine leiomyosarcoma" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139195" "05389" "00174348" "00008" "Familial" "" "multiple sites" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139196" "05389" "00174356" "00008" "Familial" "" "1 spinal, 1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139197" "05389" "00174357" "00008" "Familial" "" "NC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139198" "05389" "00174358" "00008" "Familial" "" "1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139199" "05389" "00174360" "00008" "Familial" "" "2 spinal, 1 abdominal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139200" "05389" "00174361" "00008" "Familial" "" "multiple sites incl. IC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139201" "05389" "00174364" "00008" "Familial" "" "1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139202" "05389" "00174365" "00008" "Familial" "" "3 spinal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139203" "05389" "00174366" "00008" "Familial" "" "1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139204" "05389" "00174368" "00008" "Familial" "" "1 spinal, 3 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139205" "05389" "00174369" "00008" "Familial" "" "1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139206" "05389" "00174370" "00008" "Familial" "" "1 spinal, 1 falx" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139207" "05389" "00174371" "00008" "Familial" "" "NC" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139208" "05465" "00173998" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000139209" "05465" "00173999" "00008" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155577" "00198" "00207794" "01164" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000156816" "00198" "00037154" "01164" "Unknown" "" "hereditary tumour syndrome, Ependymome, neurilemma tumour" "" "" "" "" "" "" "" "" "" "" "" "" "cancer syndrome" "" "0000156817" "00198" "00037156" "01164" "Unknown" "" "hereditary tumour syndrome, Ependymome, neurilemma tumour" "" "" "" "" "" "" "" "" "" "" "" "" "cancer syndrome" "" "0000156818" "00198" "00037157" "01164" "Unknown" "" "hereditary tumour syndrome, Ependymome, neurilemma tumour" "" "" "" "" "" "" "" "" "" "" "" "" "cancer syndrome" "" "0000156819" "00198" "00037158" "01164" "Unknown" "" "suspected Schwannomatosis, multiple Meningeome" "" "" "" "" "" "" "" "" "" "" "" "" "Schwannomatosis" "" "0000171224" "05162" "00147123" "02357" "Isolated (sporadic)" "" "developmental delay, no epilepsy, hypotonia" "" "" "" "" "" "" "" "" "" "" "" "CSS-3" "developmental delay" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "" "" "0000238790" "00198" "00315038" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000308009" "00139" "00416242" "00006" "Isolated (sporadic)" "06y04m" "severe syndromic intellectual disability" "00y07m" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000325023" "05611" "00434774" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325024" "05611" "00434775" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325025" "05611" "00434776" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325026" "05611" "00434777" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325027" "05611" "00434778" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325028" "05611" "00434779" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000325029" "05611" "00434780" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "neurodevelopmental dealy" "" "0000331154" "00156" "00441729" "01358" "Isolated (sporadic)" "1m" "fetus 231d-amenorrhea duration first ultra-sound anomaly" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000331155" "00156" "00441730" "01358" "Isolated (sporadic)" "2y3m" "fetus 231d-amenorrhea duration first ultra-sound anomaly" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000331156" "00156" "00441731" "01358" "Isolated (sporadic)" "7y6m" "fetus 140d-amenorrhea duration first ultra-sound anomaly" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000331157" "00156" "00441732" "01358" "Isolated (sporadic)" "8y9m" "fetus 140d-amenorrhea duration first ultra-sound anomaly" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000331158" "00156" "00441733" "01358" "Isolated (sporadic)" "7y8m" "" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000331159" "00156" "00441734" "01358" "Isolated (sporadic)" "" "fetus 140d-amenorrhea duration first ultra-sound anomaly; termination of pregnancy 20w+5 amenorrhea duration" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Coffin-Siris syndrome" "" "0000341660" "00668" "00453016" "00006" "Isolated (sporadic)" "" "intellectual disability; childhood hypotonia; no microcephaly; no short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; no arched eyebrows; short nose; anteverted nostrils; macroglossia (protruding tongue); tented and cupid-bowed upper lip; no thick and everted lower lip; no pointed chin; no dysplastic ear helices; brachydactyly; no cardiac anomaly; no renal anomaly; no behavioral problems; no hearing loss (sensorineural); no seizures" "" "" "" "" "" "" "" "" "" "" "" "CSS3" "Kleefstra syndrome phenotypic spectrum" "" ## Screenings ## Do not remove or alter this header ## ## Count = 355 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001274" "00001503" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001275" "00001504" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001282" "00001511" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001285" "00001514" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001292" "00001521" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001293" "00001522" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001297" "00001526" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001300" "00001529" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001303" "00001532" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001306" "00001535" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001310" "00001539" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001312" "00001541" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001313" "00001542" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000001317" "00001546" "1" "00074" "00074" "2013-06-28 17:52:20" "" "" "SEQ" "DNA" "" "" "0000037224" "00037154" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037225" "00037155" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037226" "00037156" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037227" "00037157" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037228" "00037158" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000048148" "00048023" "1" "01358" "01358" "2015-09-02 14:32:06" "" "" "SEQ" "DNA" "" "" "0000048149" "00048024" "1" "01358" "01358" "2015-09-02 14:53:01" "" "" "SEQ" "DNA" "" "" "0000048150" "00048025" "1" "01358" "01358" "2015-09-02 15:01:33" "" "" "SEQ" "DNA" "" "" "0000048151" "00048026" "1" "01358" "01358" "2015-09-02 15:06:37" "" "" "SEQ" "DNA" "" "" "0000048152" "00048027" "1" "01358" "01358" "2015-09-02 15:10:00" "" "" "SEQ" "DNA" "" "" "0000048153" "00048028" "1" "01358" "01358" "2015-09-02 15:12:25" "" "" "SEQ" "DNA" "" "" "0000048154" "00048029" "1" "01358" "01358" "2015-09-02 15:14:55" "" "" "SEQ" "DNA" "" "" "0000048155" "00048030" "1" "01358" "01358" "2015-09-02 15:18:50" "" "" "SEQ" "DNA" "" "" "0000048156" "00048031" "1" "01358" "01358" "2015-09-02 15:29:18" "" "" "SEQ" "DNA" "" "" "0000050562" "00050617" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000105036" "00104564" "1" "01975" "01975" "2017-05-13 11:32:31" "00006" "2017-05-16 17:44:45" "RT-PCR;SEQ" "DNA;RNA" "Blood" "" "0000108206" "00107735" "1" "02150" "02150" "2017-07-17 16:55:31" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108207" "00107736" "1" "02150" "02150" "2017-07-17 17:04:56" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108208" "00107737" "1" "02150" "02150" "2017-07-17 17:11:46" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108209" "00107738" "1" "02150" "02150" "2017-07-17 17:15:39" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108210" "00107739" "1" "02150" "02150" "2017-07-17 17:18:03" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108211" "00107740" "1" "02150" "02150" "2017-07-17 17:20:01" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108212" "00107741" "1" "02150" "02150" "2017-07-17 17:21:42" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108213" "00107742" "1" "02150" "02150" "2017-07-17 17:25:24" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108214" "00107743" "1" "02150" "02150" "2017-07-17 17:27:36" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108215" "00107744" "1" "02150" "02150" "2017-07-17 17:29:16" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108216" "00107745" "1" "02150" "02150" "2017-07-17 17:31:32" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108217" "00107746" "1" "02150" "02150" "2017-07-17 17:37:36" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108218" "00107747" "1" "02150" "02150" "2017-07-17 17:46:17" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108219" "00107748" "1" "02150" "02150" "2017-07-17 17:48:18" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108220" "00107749" "1" "02150" "02150" "2017-07-17 17:50:41" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108221" "00107750" "1" "02150" "02150" "2017-07-17 17:52:24" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108222" "00107751" "1" "02150" "02150" "2017-07-17 17:54:08" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108223" "00107752" "1" "02150" "02150" "2017-07-17 18:21:41" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108224" "00107753" "1" "02150" "02150" "2017-07-17 18:24:34" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108225" "00107754" "1" "02150" "02150" "2017-07-17 18:26:28" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108226" "00107755" "1" "02150" "02150" "2017-07-17 18:29:23" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108227" "00107756" "1" "02150" "02150" "2017-07-17 18:31:05" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108282" "00107811" "1" "02150" "02150" "2017-07-18 16:34:42" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108283" "00107812" "1" "02150" "02150" "2017-07-18 16:38:28" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108284" "00107813" "1" "02150" "02150" "2017-07-18 16:40:53" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108285" "00107814" "1" "02150" "02150" "2017-07-18 16:42:22" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108286" "00107815" "1" "02150" "02150" "2017-07-18 16:43:34" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108287" "00107816" "1" "02150" "02150" "2017-07-18 16:45:00" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108288" "00107817" "1" "02150" "02150" "2017-07-18 16:46:05" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108289" "00107818" "1" "02150" "02150" "2017-07-18 16:47:09" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108290" "00107819" "1" "02150" "02150" "2017-07-18 16:48:30" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108291" "00107820" "1" "02150" "02150" "2017-07-18 16:49:41" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108292" "00107821" "1" "02150" "02150" "2017-07-18 16:50:54" "00006" "2017-07-20 15:08:35" "MLPA;SEQ" "DNA" "" "" "0000108293" "00107822" "1" "02150" "02150" "2017-07-18 16:52:28" "00006" "2017-07-30 13:03:04" "FISH" "DNA" "" "" "0000108294" "00107823" "1" "02150" "02150" "2017-07-18 16:53:22" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108295" "00107824" "1" "02150" "02150" "2017-07-18 16:54:21" "00006" "2017-07-30 13:03:37" "FISH;MLPA" "DNA" "" "" "0000108296" "00107825" "1" "02150" "02150" "2017-07-18 17:16:25" "00006" "2017-07-30 13:04:05" "FISH;MLPA" "DNA" "" "" "0000108297" "00107826" "1" "02150" "02150" "2017-07-18 17:17:37" "00006" "2017-07-30 13:04:30" "FISH;MLPA" "DNA" "" "" "0000108298" "00107827" "1" "02150" "02150" "2017-07-18 17:18:49" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108299" "00107828" "1" "02150" "02150" "2017-07-18 17:20:01" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108300" "00107829" "1" "02150" "02150" "2017-07-18 17:21:04" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108301" "00107830" "1" "02150" "02150" "2017-07-18 17:23:14" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000108302" "00107831" "1" "02150" "02150" "2017-07-18 17:24:09" "00006" "2017-07-19 10:26:04" "SEQ" "DNA" "" "" "0000147978" "00147123" "1" "02357" "02357" "2018-01-02 10:55:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000174810" "00173920" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174811" "00173921" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174812" "00173922" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174813" "00173923" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174814" "00173924" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174815" "00173925" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174816" "00173926" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174817" "00173927" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174818" "00173928" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174819" "00173929" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174820" "00173930" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174821" "00173931" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174822" "00173932" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174823" "00173933" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174824" "00173934" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174825" "00173935" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000174826" "00173936" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" 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"0000175200" "00174310" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175201" "00174311" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175202" "00174312" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175203" "00174313" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175204" "00174314" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175205" "00174315" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175206" "00174316" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175207" "00174317" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175208" "00174318" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175209" "00174319" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175210" "00174320" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175211" "00174321" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175212" "00174322" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175213" "00174323" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175214" "00174324" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175215" "00174325" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175216" "00174326" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175217" "00174327" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175218" "00174328" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175219" "00174329" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175220" "00174330" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175221" "00174331" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175222" "00174332" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175223" "00174333" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175224" "00174334" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175225" "00174335" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175226" "00174336" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175227" "00174337" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175228" "00174338" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175229" "00174339" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175230" "00174340" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175231" "00174341" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175232" "00174342" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175233" "00174343" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175234" "00174344" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175235" "00174345" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175236" "00174346" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175237" "00174347" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175238" "00174348" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175239" "00174349" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175240" "00174350" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175241" "00174351" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175242" "00174352" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175243" "00174353" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175244" "00174354" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175245" "00174355" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175246" "00174356" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175247" "00174357" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175248" "00174358" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175249" "00174359" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175250" "00174360" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175251" "00174361" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175252" "00174362" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175253" "00174363" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175254" "00174364" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175255" "00174365" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175256" "00174366" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175257" "00174367" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175258" "00174368" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175259" "00174369" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175260" "00174370" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000175261" "00174371" "1" "00008" "00008" "2018-08-07 16:25:57" "" "" "SEQ" "DNA" "" "" "0000177894" "00174258" "1" "00008" "00008" "2018-08-15 14:28:58" "00008" "2018-08-15 14:39:10" "SEQ" "DNA" "tumor (kidney)" "" "0000177897" "00173938" "1" "00008" "00008" "2018-08-15 15:54:17" "" "" "?" "DNA" "tumor" "" "0000208835" "00207794" "1" "01164" "01164" "2018-11-30 14:41:29" "" "" "SEQ-NG" "DNA" "" "" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000294240" "00293072" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306021" "00304892" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000316214" "00315038" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000403691" "00402449" "1" "04260" "04260" "2022-02-06 19:31:23" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "" "" "0000417522" "00416242" "1" "00006" "00006" "2022-08-25 18:49:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000436246" "00434774" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436247" "00434775" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436248" "00434776" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436249" "00434777" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436250" "00434778" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436251" "00434779" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436252" "00434780" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436463" "00434990" "1" "01358" "01358" "2023-04-17 21:25:56" "" "" "SEQ-NG" "DNA" "Blood" "" "0000443215" "00441729" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443216" "00441730" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ" "DNA" "" "" "0000443217" "00441731" "1" "01358" "00006" "2023-11-09 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" 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"0000174859" "SMARCB1" "0000174860" "SMARCB1" "0000174861" "SMARCB1" "0000174862" "SMARCB1" "0000174863" "SMARCB1" "0000174864" "SMARCB1" "0000174865" "SMARCB1" "0000174866" "SMARCB1" "0000174867" "SMARCB1" "0000174868" "SMARCB1" "0000174870" "SMARCB1" "0000174871" "SMARCB1" "0000174872" "SMARCB1" "0000174873" "SMARCB1" "0000174874" "SMARCB1" "0000174875" "SMARCB1" "0000174876" "SMARCB1" "0000174877" "SMARCB1" "0000174878" "SMARCB1" "0000174879" "SMARCB1" "0000174881" "SMARCB1" "0000174882" "SMARCB1" "0000174883" "SMARCB1" "0000174884" "SMARCB1" "0000174885" "SMARCB1" "0000174886" "SMARCB1" "0000174887" "SMARCB1" "0000174888" "SMARCB1" "0000174889" "SMARCB1" "0000174890" "SMARCB1" "0000174891" "SMARCB1" "0000174892" "SMARCB1" "0000174893" "SMARCB1" "0000174894" "SMARCB1" "0000174895" "SMARCB1" "0000174896" "SMARCB1" "0000174897" "SMARCB1" "0000174898" "SMARCB1" "0000174899" "SMARCB1" "0000174900" "SMARCB1" "0000174901" "SMARCB1" "0000174902" "SMARCB1" "0000174903" "SMARCB1" "0000174968" "SMARCB1" "0000174969" "SMARCB1" "0000174980" "SMARCB1" "0000174981" "SMARCB1" "0000174982" "SMARCB1" "0000174983" "SMARCB1" "0000174989" "SMARCB1" "0000174990" "SMARCB1" "0000174991" "SMARCB1" "0000174992" "SMARCB1" "0000174993" "SMARCB1" "0000174994" "SMARCB1" "0000174995" "SMARCB1" "0000174996" "SMARCB1" "0000174997" "SMARCB1" "0000174998" "SMARCB1" "0000174999" "SMARCB1" "0000175000" "SMARCB1" "0000175002" "SMARCB1" "0000175003" "SMARCB1" "0000175004" "SMARCB1" "0000175005" "SMARCB1" "0000175006" "SMARCB1" "0000175007" "SMARCB1" "0000175008" "SMARCB1" "0000175076" "SMARCB1" "0000175077" "SMARCB1" "0000175078" "SMARCB1" "0000175079" "SMARCB1" "0000175080" "SMARCB1" "0000175082" "SMARCB1" "0000175083" "SMARCB1" "0000175084" "SMARCB1" "0000175085" "SMARCB1" "0000175086" "SMARCB1" "0000175087" "SMARCB1" "0000175088" "SMARCB1" "0000175089" "SMARCB1" "0000175090" "SMARCB1" "0000175091" "SMARCB1" "0000175093" "SMARCB1" "0000175094" "SMARCB1" "0000175108" "SMARCB1" "0000175109" "SMARCB1" "0000175110" "SMARCB1" "0000175111" "SMARCB1" "0000175112" "SMARCB1" "0000175114" "SMARCB1" "0000175115" "SMARCB1" "0000175116" "SMARCB1" "0000175117" "SMARCB1" "0000175118" "SMARCB1" "0000175119" "SMARCB1" "0000175120" "SMARCB1" "0000175122" "SMARCB1" "0000175123" "SMARCB1" "0000175124" "SMARCB1" "0000175125" "SMARCB1" "0000175126" "SMARCB1" "0000175127" "SMARCB1" "0000175128" "SMARCB1" "0000175130" "SMARCB1" "0000175131" "SMARCB1" "0000175132" "SMARCB1" "0000175133" "SMARCB1" "0000175134" "SMARCB1" "0000175135" "SMARCB1" "0000175136" "SMARCB1" "0000175137" "SMARCB1" "0000175139" "SMARCB1" "0000175140" "SMARCB1" "0000175141" "SMARCB1" "0000175142" "SMARCB1" "0000175143" "SMARCB1" "0000175144" "SMARCB1" "0000175145" "SMARCB1" "0000175146" "SMARCB1" "0000175147" "SMARCB1" "0000175148" "SMARCB1" "0000175149" "SMARCB1" "0000175176" "SMARCB1" "0000175177" "SMARCB1" "0000175178" "SMARCB1" "0000175179" "SMARCB1" "0000175180" "SMARCB1" "0000175181" "SMARCB1" "0000175182" "SMARCB1" "0000175183" "SMARCB1" "0000175184" "SMARCB1" "0000175185" "SMARCB1" "0000175186" "SMARCB1" "0000175187" "SMARCB1" "0000175188" "SMARCB1" "0000175189" "SMARCB1" "0000175190" "SMARCB1" "0000175191" "SMARCB1" "0000175192" "SMARCB1" "0000175193" "SMARCB1" "0000175194" "SMARCB1" "0000175195" "SMARCB1" "0000175196" "SMARCB1" "0000175197" "SMARCB1" "0000175198" "SMARCB1" "0000175199" "SMARCB1" "0000175200" "SMARCB1" "0000175201" "SMARCB1" "0000175202" "SMARCB1" "0000175203" "SMARCB1" "0000175204" "SMARCB1" "0000175205" "SMARCB1" "0000175206" "SMARCB1" "0000175207" "SMARCB1" "0000175208" "SMARCB1" "0000175209" "SMARCB1" "0000175210" "SMARCB1" "0000175211" "SMARCB1" "0000175212" "SMARCB1" "0000175213" "SMARCB1" "0000175214" "SMARCB1" "0000175215" "SMARCB1" "0000175216" "SMARCB1" "0000175217" "SMARCB1" "0000175218" "SMARCB1" "0000175219" "SMARCB1" "0000175220" "SMARCB1" "0000175221" "SMARCB1" "0000175222" "SMARCB1" "0000175223" "SMARCB1" "0000175224" "SMARCB1" "0000175225" "SMARCB1" "0000175226" "SMARCB1" "0000175227" "SMARCB1" "0000175228" "SMARCB1" "0000175229" "SMARCB1" "0000175230" "SMARCB1" "0000175231" "SMARCB1" "0000175232" "SMARCB1" "0000175233" "SMARCB1" "0000175234" "SMARCB1" "0000175235" "SMARCB1" "0000175236" "SMARCB1" "0000175237" "SMARCB1" "0000175238" "SMARCB1" "0000175239" "SMARCB1" "0000175240" "SMARCB1" "0000175241" "SMARCB1" "0000175242" "SMARCB1" "0000175243" "SMARCB1" "0000175244" "SMARCB1" "0000175245" "SMARCB1" "0000175246" "SMARCB1" "0000175247" "SMARCB1" "0000175248" "SMARCB1" "0000175249" "SMARCB1" "0000175250" "SMARCB1" "0000175251" "SMARCB1" "0000175252" "SMARCB1" "0000175253" "SMARCB1" "0000175254" "SMARCB1" "0000175255" "SMARCB1" "0000175256" "SMARCB1" "0000175257" "SMARCB1" "0000175258" "SMARCB1" "0000175259" "SMARCB1" "0000175260" "SMARCB1" "0000175261" "SMARCB1" "0000177894" "SMARCB1" "0000177897" "SMARCB1" "0000316214" "SMARCB1" "0000403691" "CDKN2A" "0000403691" "CDKN2B" "0000403691" "COQ6" "0000403691" "DGCR8" "0000403691" "LZTR1" "0000403691" "NF2" "0000403691" "SMARCB1" "0000436463" "SMARCB1" "0000462679" "SMARCB1" ## 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 = 435 "{{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}}" "0000018690" "0" "90" "22" "24175861" "24175861" "subst" "0" "00074" "SMARCB1_000062" "g.24175861G>T" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "" "" "0" "" "" "g.23833674G>T" "" "pathogenic (dominant)" "" "0000018694" "0" "90" "22" "24175863" "24175865" "del" "0" "00074" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000018695" "0" "90" "22" "24175863" "24175865" "del" "0" "00074" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Santen 2013:23929686}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000018696" "0" "90" "22" "24175863" "24175865" "del" "0" "00074" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Santen 2013:23929686}" "" "" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000018961" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018962" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018963" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018964" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018965" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018966" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018967" "0" "55" "22" "24176287" "24176287" "subst" "0.14497" "00074" "SMARCB1_000009" "g.24176287G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23834100G>A" "" "VUS" "" "0000018968" "0" "55" "22" "24135703" "24135703" "subst" "0.00879384" "00074" "SMARCB1_000010" "g.24135703A>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23793516A>T" "" "VUS" "" "0000018969" "0" "55" "22" "24135703" "24135703" "subst" "0.00879384" "00074" "SMARCB1_000010" "g.24135703A>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23793516A>T" "" "VUS" "" "0000018970" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018971" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018972" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018973" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018974" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018975" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018976" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018977" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018978" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018979" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000018980" "0" "55" "22" "24167659" "24167660" "dup" "0" "00074" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.23825472_23825473dup" "" "VUS" "" "0000064349" "1" "10" "22" "24158895" "24158895" "subst" "0" "01164" "SMARCB1_000006" "g.24158895A>G" "frequency up to15%" "" "" "" "" "Germline" "" "rs9608192" "0" "" "" "g.23816708A>G" "" "benign" "" "0000064350" "1" "10" "22" "24158899" "24158899" "subst" "0" "01164" "SMARCB1_000007" "g.24158899C>A" "" "" "" "" "" "Germline" "" "rs2070457" "0" "" "" "g.23816712C>A" "" "benign" "" "0000064351" "1" "10" "22" "24176287" "24176287" "subst" "0.14497" "01164" "SMARCB1_000009" "g.24176287G>A" "frequency up to15%" "" "" "" "" "Germline" "" "rs5030613" "0" "" "" "g.23834100G>A" "" "benign" "" "0000064352" "1" "10" "22" "24167513" "24167513" "subst" "0.112444" "01164" "SMARCB1_000008" "g.24167513G>A" "frequency up to 20%" "" "" "" "" "Germline" "" "rs2229354" "0" "" "" "g.23825326G>A" "" "benign" "" "0000064353" "1" "10" "22" "24167659" "24167660" "dup" "0" "01164" "SMARCB1_000038" "g.24167659_24167660dup" "frequency up to 20%" "" "" "" "" "Germline" "" "rs5844569" "0" "" "" "g.23825472_23825473dup" "" "benign" "" "0000076969" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "1091_1093delAGA" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076970" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "1091_1093delAGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076971" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "1091_1093delAGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076972" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076973" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076974" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "" "0000076975" "0" "90" "22" "24176339" "24176339" "subst" "0" "01358" "SMARCB1_000002" "g.24176339G>A" "" "{PMID:Tsurusaki 2012:22426308}, {PMID:Tsurusaki 2014:23815551}" "" "" "" "De novo" "" "" "0" "" "" "g.23834152G>A" "" "pathogenic (dominant)" "" "0000076976" "0" "90" "22" "24176330" "24176330" "subst" "0" "01358" "SMARCB1_000012" "g.24176330G>A" "" "{PMID:Wieczorek 2013:23906836}" "" "" "" "De novo" "yes" "" "" "" "" "g.23834143G>A" "" "pathogenic" "" "0000076977" "0" "90" "22" "24175868" "24175868" "subst" "0" "01358" "SMARCB1_000011" "g.24175868C>T" "" "{PMID:Wieczorek 2013:23906836}" "" "" "" "De novo" "yes" "" "" "" "" "g.23833681C>T" "" "pathogenic" "" "0000079542" "0" "90" "22" "24175856" "24175865" "delins" "0" "00006" "SMARCB1_000013" "g.24175856_24175865delGAGAinsG" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "in-frame deletion\r\nVariant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.23833669_23833678delinsG" "" "pathogenic" "" "0000170281" "0" "90" "22" "24130008" "24130008" "subst" "0" "01975" "SMARCB1_000014" "g.24130008A>G" "" "Author submited" "" "" "results in addition of 72 nucleotides in transcript between exon 1 and 2 and ultimately to a loss of function due to a premature termination codon; targeted sequencing parents revealed variant was de novo" "De novo" "-" "" "0" "" "" "g.23787821A>G" "" "pathogenic" "" "0000174104" "0" "90" "22" "24158983" "24158983" "del" "0" "02150" "SMARCB1_000016" "g.24158983del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23816796del" "" "pathogenic" "" "0000174105" "0" "90" "22" "24167460" "24167460" "del" "0" "02150" "SMARCB1_000017" "g.24167460del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825273del" "" "pathogenic" "" "0000174106" "0" "90" "22" "24159072" "24159072" "subst" "0" "02150" "SMARCB1_000018" "g.24159072C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23816885C>A" "" "pathogenic" "" "0000174107" "0" "90" "22" "24134006" "24134006" "subst" "0" "02150" "SMARCB1_000019" "g.24134006C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791819C>T" "" "pathogenic" "" "0000174108" "0" "90" "22" "24134006" "24134006" "subst" "0" "02150" "SMARCB1_000019" "g.24134006C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791819C>T" "" "pathogenic" "" "0000174109" "0" "90" "22" "24143240" "24143240" "subst" "0" "02150" "SMARCB1_000015" "g.24143240C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23801053C>T" "" "pathogenic" "" "0000174110" "0" "70" "22" "24145622" "24145622" "subst" "0.002065" "02150" "SMARCB1_000027" "g.24145622C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23803435C>T" "" "likely pathogenic" "" "0000174111" "0" "70" "22" "24158955" "24158955" "subst" "0" "02150" "SMARCB1_000020" "g.24158955A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23816768A>G" "" "likely pathogenic" "" "0000174112" "0" "90" "22" "24167459" "24167459" "subst" "0" "02150" "SMARCB1_000026" "g.24167459G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825272G>A" "" "pathogenic" "" "0000174113" "0" "70" "22" "24167603" "24167603" "subst" "0" "02150" "SMARCB1_000025" "g.24167603G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825416G>A" "" "likely pathogenic" "" "0000174114" "0" "90" "22" "24167458" "24167458" "subst" "0" "02150" "SMARCB1_000024" "g.24167458G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825271G>A" "" "pathogenic" "" "0000174115" "0" "90" "22" "24167458" "24167458" "subst" "0" "02150" "SMARCB1_000024" "g.24167458G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825271G>A" "" "pathogenic" "" "0000174116" "0" "90" "22" "24133967" "24133967" "subst" "0" "02150" "SMARCB1_000021" "g.24133967C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000174117" "0" "90" "22" "24133967" "24133967" "subst" "0" "02150" "SMARCB1_000021" "g.24133967C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000174118" "0" "90" "22" "24134006" "24134006" "subst" "0" "02150" "SMARCB1_000019" "g.24134006C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791819C>T" "" "pathogenic" "" "0000174119" "0" "90" "22" "24175882" "24175882" "del" "0" "02150" "SMARCB1_000023" "g.24175882del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23833695del" "" "pathogenic" "" "0000174120" "0" "90" "22" "24167441" "24167454" "del" "0" "02150" "SMARCB1_000022" "g.24167441_24167454del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825254_23825267del" "" "pathogenic" "" "0000174121" "0" "90" "22" "24133967" "24133967" "subst" "0" "02150" "SMARCB1_000021" "g.24133967C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000174122" "0" "90" "22" "24133967" "24133967" "subst" "0" "02150" "SMARCB1_000021" "g.24133967C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000174123" "0" "90" "22" "24133967" "24133967" "subst" "0" "02150" "SMARCB1_000021" "g.24133967C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000174124" "0" "90" "22" "24134006" "24134006" "subst" "0" "02150" "SMARCB1_000019" "g.24134006C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791819C>T" "" "pathogenic" "" "0000174125" "0" "90" "22" "24134006" "24134006" "subst" "0" "02150" "SMARCB1_000019" "g.24134006C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23791819C>T" "" "pathogenic" "" "0000174186" "0" "70" "22" "24158955" "24158955" "subst" "0" "02150" "SMARCB1_000020" "g.24158955A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23816768A>G" "" "likely pathogenic" "" "0000174340" "1" "90" "22" "24129356" "24145610" "" "0" "02150" "SMARCB1_000028" "g.(?_24129356)_(24145610_24158956)del" "" "" "" "del Ex1-Ex5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174341" "1" "90" "22" "24175758" "24176368" "" "0" "02150" "SMARCB1_000029" "g.(24167603_24175758)_(24176368_?)del" "" "" "" "del Ex8_Ex9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174342" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "delSMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174343" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "delSMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174344" "0" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "delSMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174345" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "delSMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174346" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "deletion SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174347" "3" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "del ex1-9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174348" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "deletion SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174349" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "deletion SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174350" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "deletion SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174351" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "delSMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174352" "1" "90" "22" "24158956" "24159124" "" "0" "02150" "SMARCB1_000031" "g.(24145610_24158956)_(24167411_24159124)del" "" "" "" "del Exon6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174353" "1" "90" "22" "24133942" "24176368" "" "0" "02150" "SMARCB1_000032" "g.(24129450_24133942)_(24176368_?)del" "" "" "" "del ex2_ex9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174354" "1" "90" "22" "24129356" "24176368" "" "0" "02150" "SMARCB1_000030" "g.(?_24129356)_(24176368_?)del" "" "" "" "del ex1-9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174355" "1" "90" "22" "24143130" "24145610" "" "0" "02150" "SMARCB1_000033" "g.(24135876_24143130)_(24145610_24158956)del" "" "" "" "del Ex4_Ex5" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174356" "1" "90" "22" "24175758" "24176368" "" "0" "02150" "SMARCB1_000029" "g.(24167603_24175758)_(24176368_?)del" "" "" "" "del Ex8_Ex9" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174358" "1" "90" "22" "24158956" "24159124" "" "0" "02150" "SMARCB1_000031" "g.(24145610_24158956)_(24167411_24159124)del" "" "" "" "del Exon6" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174359" "1" "90" "22" "23437882" "24176368" "" "0" "02150" "SMARCB1_000034" "g.(?_23437882)_(24176368_?)del" "" "" "" "del GNAZ_SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174361" "1" "90" "22" "22020388" "24176368" "" "0" "02150" "SMARCB1_000035" "g.(?_22020388)_(24176368_?)del" "" "" "" "del PPIL2_SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000174362" "1" "90" "22" "22020388" "24176368" "" "0" "02150" "SMARCB1_000035" "g.(?_22020388)_(24176368_?)del" "" "" "" "del PPIL2_SMARCB1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000241259" "0" "70" "22" "24129387" "24129387" "subst" "0" "02357" "SMARCB1_000153" "g.24129387G>A" "" "{PMID:Han 2018:30631761}" "" "" "" "De novo" "" "" "0" "" "" "g.23787200G>A" "" "likely pathogenic" "" "0000254851" "0" "30" "22" "24143206" "24143206" "subst" "0.00126285" "01943" "SMARCB1_000048" "g.24143206A>G" "" "" "" "SMARCB1(NM_003073.3):c.438A>G (p.P146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23801019A>G" "" "likely benign" "" "0000255337" "0" "30" "22" "24143275" "24143275" "subst" "0" "01943" "SMARCB1_000049" "g.24143275A>G" "" "" "" "SMARCB1(NM_003073.3):c.500+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23801088A>G" "" "likely benign" "" "0000255773" "0" "90" "22" "24143129" "24143129" "subst" "0" "01943" "SMARCB1_000047" "g.24143129A>G" "" "" "" "SMARCB1(NM_003073.3):c.363-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23800942A>G" "" "pathogenic" "" "0000255774" "0" "90" "22" "24167410" "24167410" "subst" "0" "01943" "SMARCB1_000052" "g.24167410A>T" "" "" "" "SMARCB1(NM_003073.3):c.796-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23825223A>T" "" "pathogenic" "" "0000298398" "0" "30" "22" "24145622" "24145622" "subst" "0.002065" "02325" "SMARCB1_000027" "g.24145622C>T" "" "" "" "SMARCB1(NM_003073.3):c.628+13C>T, SMARCB1(NM_003073.5):c.628+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23803435C>T" "" "likely benign" "" "0000298399" "0" "30" "22" "24175743" "24175743" "subst" "4.06111E-6" "02325" "SMARCB1_000053" "g.24175743C>T" "" "" "" "SMARCB1(NM_003073.5):c.987-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23833556C>T" "" "likely benign" "" "0000299614" "0" "90" "22" "24133992" "24133992" "subst" "0" "02329" "SMARCB1_000043" "g.24133992C>T" "" "" "" "SMARCB1(NM_003073.5):c.143C>T (p.P48L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23791805C>T" "" "pathogenic" "" "0000299615" "0" "10" "22" "24135882" "24135882" "subst" "0.00227027" "02329" "SMARCB1_000045" "g.24135882C>T" "" "" "" "SMARCB1(NM_003073.5):c.362+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23793695C>T" "" "benign" "" "0000299616" "0" "30" "22" "24145563" "24145563" "subst" "1.21855E-5" "02329" "SMARCB1_000051" "g.24145563G>A" "" "" "" "SMARCB1(NM_003073.5):c.582G>A (p.E194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23803376G>A" "" "likely benign" "" "0000299617" "0" "10" "22" "24145622" "24145622" "subst" "0.002065" "02329" "SMARCB1_000027" "g.24145622C>T" "" "" "" "SMARCB1(NM_003073.3):c.628+13C>T, SMARCB1(NM_003073.5):c.628+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23803435C>T" "" "benign" "" "0000308600" "0" "50" "22" "24129335" "24129335" "subst" "4.22329E-6" "01943" "SMARCB1_000036" "g.24129335G>C" "" "" "" "SMARCB1(NM_003073.3):c.-22G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23787148G>C" "" "VUS" "" "0000308601" "0" "50" "22" "24176405" "24176405" "subst" "0" "01943" "SMARCB1_000056" "g.24176405G>A" "" "" "" "SMARCB1(NM_003073.3):c.*38G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834218G>A" "" "VUS" "" "0000308602" "0" "50" "22" "24176449" "24176449" "subst" "0" "01943" "SMARCB1_000057" "g.24176449C>T" "" "" "" "SMARCB1(NM_003073.3):c.*82C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834262C>T" "" "VUS" "" "0000308603" "0" "10" "22" "24176465" "24176465" "subst" "0" "01943" "SMARCB1_000058" "g.24176465C>T" "" "" "" "SMARCB1(NM_003073.3):c.*98C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834278C>T" "" "benign" "" "0000308604" "0" "90" "22" "24133959" "24133959" "subst" "0" "01943" "SMARCB1_000042" "g.24133959G>A" "" "" "" "SMARCB1(NM_003073.3):c.110G>A (p.R37H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23791772G>A" "" "pathogenic" "" "0000308605" "0" "50" "22" "24176339" "24176339" "subst" "0" "01943" "SMARCB1_000002" "g.24176339G>A" "" "" "" "SMARCB1(NM_003073.3):c.1130G>A (p.R377H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834152G>A" "" "VUS" "" "0000308606" "0" "90" "22" "24176362" "24176362" "subst" "0" "01943" "SMARCB1_000055" "g.24176362T>G" "" "" "" "SMARCB1(NM_003073.3):c.1153T>G (p.W385G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834175T>G" "" "pathogenic" "" "0000308607" "0" "90" "22" "24133967" "24133967" "subst" "0" "01943" "SMARCB1_000021" "g.24133967C>T" "" "" "" "SMARCB1(NM_003073.3):c.118C>T (p.R40*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23791780C>T" "" "pathogenic" "" "0000308608" "0" "90" "22" "24134067" "24134068" "del" "0" "01943" "SMARCB1_000044" "g.24134067_24134068del" "" "" "" "SMARCB1(NM_003073.3):c.218_219delAA (p.K73Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23791880_23791881del" "" "pathogenic" "" "0000308609" "0" "90" "22" "24129386" "24129386" "del" "0" "01943" "SMARCB1_000037" "g.24129386del" "" "" "" "SMARCB1(NM_003073.3):c.30delC (p.F10Lfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23787199del" "" "pathogenic" "" "0000308610" "0" "90" "22" "24129390" "24129390" "subst" "0" "01943" "SMARCB1_000003" "g.24129390C>T" "" "" "" "SMARCB1(NM_003073.3):c.34C>T (p.Q12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23787203C>T" "" "pathogenic" "" "0000308611" "0" "90" "22" "24143122" "24143122" "subst" "0" "01943" "SMARCB1_000046" "g.24143122T>G" "" "" "" "SMARCB1(NM_003073.3):c.363-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23800935T>G" "" "pathogenic" "" "0000308612" "0" "90" "22" "24143240" "24143240" "subst" "0" "01943" "SMARCB1_000015" "g.24143240C>T" "" "" "" "SMARCB1(NM_003073.3):c.472C>T (p.R158*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23801053C>T" "" "pathogenic" "" "0000308613" "0" "30" "22" "24143292" "24143292" "subst" "0.00111696" "01943" "SMARCB1_000050" "g.24143292C>G" "" "" "" "SMARCB1(NM_001317946.2):c.497C>G (p.(Thr166Ser)), SMARCB1(NM_003073.3):c.500+24C>G, SMARCB1(NM_003073.5):c.500+24C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23801105C>G" "" "likely benign" "" "0000308614" "0" "10" "22" "24145622" "24145622" "subst" "0.002065" "01943" "SMARCB1_000027" "g.24145622C>T" "" "" "" "SMARCB1(NM_003073.3):c.628+13C>T, SMARCB1(NM_003073.5):c.628+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23803435C>T" "" "benign" "" "0000308615" "0" "90" "22" "24167458" "24167458" "subst" "0" "01943" "SMARCB1_000024" "g.24167458G>A" "" "" "" "SMARCB1(NM_003073.3):c.842G>A (p.W281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23825271G>A" "" "pathogenic" "" "0000308616" "0" "10" "22" "24167513" "24167513" "subst" "0.112444" "01943" "SMARCB1_000008" "g.24167513G>A" "" "" "" "SMARCB1(NM_003073.3):c.897G>A (p.S299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23825326G>A" "" "benign" "" "0000308619" "0" "10" "22" "24129568" "24129569" "del" "0" "01943" "SMARCB1_000041" "g.24129568_24129569del" "" "" "" "SMARCB1(NM_003073.3):c.93+119_93+120delGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23787381_23787382del" "" "benign" "" "0000308620" "0" "10" "22" "24167659" "24167660" "dup" "0" "01943" "SMARCB1_000038" "g.24167659_24167660dup" "" "" "" "SMARCB1(NM_003073.3):c.986+58_986+59dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23825472_23825473dup" "" "benign" "" "0000328933" "0" "50" "22" "24124518" "24124518" "subst" "0" "01804" "MMP11_000002" "g.24124518G>T" "" "" "" "MMP11(NM_005940.3):c.1181G>T (p.(Gly394Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23782331G>T" "" "VUS" "" "0000328935" "0" "50" "22" "24176329" "24176329" "subst" "0" "01804" "SMARCB1_000054" "g.24176329C>T" "" "" "" "SMARCB1(NM_001007468.1):c.1093C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23834142C>T" "" "VUS" "" "0000328936" "0" "50" "22" "24181125" "24181125" "subst" "0" "01804" "DERL3_000001" "g.24181125G>C" "" "" "" "DERL3(NM_001002862.2):c.50C>G (p.(Thr17Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23838938G>C" "" "VUS" "" "0000339752" "0" "10" "22" "24167513" "24167513" "subst" "0.112444" "02327" "SMARCB1_000008" "g.24167513G>A" "" "" "" "SMARCB1(NM_003073.3):c.897G>A (p.S299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23825326G>A" "" "benign" "" "0000344073" "0" "70" "22" "24175879" "24175879" "subst" "0" "02327" "SMARCB1_000060" "g.24175879C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23833692C>G" "" "likely pathogenic" "" "0000349818" "0" "90" "22" "24134002" "24134002" "subst" "0" "02327" "SMARCB1_000059" "g.24134002G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23791815G>A" "" "pathogenic" "" "0000394677" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Ammerlaan AC 2008:18087273}" "" "" "Refseq reported: U04847" "Germline" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000394678" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394679" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394680" "1" "50" "22" "24133954" "24133954" "subst" "0" "00008" "SMARCB1_000081" "g.24133954C>G" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791767C>G" "" "VUS" "" "0000394681" "1" "50" "22" "24143210" "24143217" "del" "0" "00008" "SMARCB1_000110" "g.24143210_24143217del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801023_23801030del" "" "VUS" "" "0000394682" "1" "50" "22" "24159086" "24159783" "del" "0" "00008" "SMARCB1_000125" "g.24159086_24159783del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23816899_23817596del" "" "VUS" "" "0000394683" "1" "50" "22" "24159106" "24159106" "del" "0" "00008" "SMARCB1_000127" "g.24159106del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23816919del" "" "VUS" "" "0000394684" "1" "50" "22" "24167518" "24167518" "del" "0" "00008" "SMARCB1_000138" "g.24167518del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825331del" "" "VUS" "" "0000394685" "1" "50" "22" "24143130" "24145610" "del" "0" "00008" "SMARCB1_000033" "g.(2413587_24143130)_(24145610_24158956)del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of exon 4-5, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394686" "1" "50" "22" "24167475" "24167475" "subst" "0" "00008" "SMARCB1_000135" "g.24167475G>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Germline" "" "" "0" "" "" "g.23825288G>T" "" "VUS" "" "0000394687" "1" "50" "22" "24167412" "24167454" "dup" "0" "00008" "SMARCB1_000132" "g.24167412_24167454dup" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394688" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000394689" "1" "50" "22" "24145480" "24145480" "subst" "0" "00008" "SMARCB1_000114" "g.24145480A>G" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23803293A>G" "" "VUS" "" "0000394690" "1" "50" "22" "24129449" "24129449" "subst" "0" "00008" "SMARCB1_000078" "g.24129449G>C" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23787262G>C" "" "VUS" "" "0000394691" "1" "50" "22" "24133959" "24133959" "del" "0" "00008" "SMARCB1_000082" "g.24133959del" "" "{PMID:Metts 2017:28111898}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791772del" "" "VUS" "" "0000394692" "1" "50" "22" "24134046" "24134046" "subst" "0" "00008" "SMARCB1_000091" "g.24134046C>T" "" "SMARCB1 database" "" "" "" "Unknown" "" "" "0" "" "" "g.23791859C>T" "" "VUS" "" "0000394693" "1" "70" "22" "24135864" "24135864" "dup" "0" "00008" "SMARCB1_000101" "g.24135864dup" "" "{PMID:Holsten 2018:29706634}; SMARCB1 database" "" "351dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.23793677dup" "" "likely pathogenic (dominant)" "" "0000394694" "1" "50" "22" "24175767" "24175767" "del" "0" "00008" "SMARCB1_000144" "g.24175767del" "" "SMARCB1 database" "" "" "" "Unknown" "" "" "0" "" "" "g.23833580del" "" "VUS" "" "0000394695" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000394696" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Taylor MD 2000:10739763 }" "" "G?A mutation in the donor splice site, truncating mutation, not specified" "Refseq: not provided" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394697" "1" "50" "22" "24133975" "24133976" "ins" "0" "00008" "SMARCB1_000084" "g.24133975_24133976insGCCA" "" "{PMID:Janson K 2006:16261613}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23791788_23791789insGCCA" "" "VUS" "" "0000394698" "1" "50" "22" "24133975" "24133976" "ins" "0" "00008" "SMARCB1_000084" "g.24133975_24133976insGCCA" "" "{PMID:Janson K 2006:16261613}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23791788_23791789insGCCA" "" "VUS" "" "0000394699" "1" "50" "22" "24167603" "24167603" "subst" "0" "00008" "SMARCB1_000142" "g.24167603G>C" "" "{PMID:Bruggers CS 2011:20848638}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23825416G>C" "" "VUS" "" "0000394700" "1" "50" "22" "24167603" "24167603" "subst" "0" "00008" "SMARCB1_000142" "g.24167603G>C" "" "{PMID:Bruggers CS 2011:20848638}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23825416G>C" "" "VUS" "" "0000394701" "1" "50" "22" "24167603" "24167603" "subst" "0" "00008" "SMARCB1_000142" "g.24167603G>C" "" "{PMID:Bruggers CS 2011:20848638}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23825416G>C" "" "VUS" "" "0000394702" "1" "50" "22" "24143130" "24145610" "dup" "0" "00008" "SMARCB1_000103" "g.(2413587_24143130)_(24145610_24158956)dup" "" "{PMID:Bruggers CS 2011:20848638}" "" "Dup Exon 4-5, not specified" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394704" "1" "50" "22" "24143130" "24145610" "dup" "0" "00008" "SMARCB1_000103" "g.(2413587_24143130)_(24145610_24158956)dup" "" "{PMID:Bruggers CS 2011:20848638}" "" "Dup Exon 4-5, not specified" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394705" "1" "50" "22" "24167411" "24167603" "del" "0" "00008" "SMARCB1_000130" "g.(2415912_24167411)_(24167603_24175758)del" "" "{PMID:Bruggers CS 2011:20848638}" "" "Deletion of exon 7, not specified" "Refseq: not provided" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394706" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kordes U 2014:24123847}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394707" "1" "50" "22" "24167568" "24167568" "dup" "0" "00008" "SMARCB1_000139" "g.24167568dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825381dup" "" "VUS" "" "0000394708" "1" "50" "22" "24145610" "24145610" "subst" "0" "00008" "SMARCB1_000118" "g.24145610G>A" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803423G>A" "" "VUS" "" "0000394709" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394710" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394711" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394712" "1" "50" "22" "24134006" "24134006" "subst" "0" "00008" "SMARCB1_000019" "g.24134006C>T" "" "{PMID:Fujisawa H 2005:15981100}" "" "C157T, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791819C>T" "" "VUS" "" "0000394713" "1" "50" "22" "24143198" "24143198" "del" "0" "00008" "SMARCB1_000109" "g.24143198del" "" "{PMID:Sévenet N 1999:10556283}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801011del" "" "VUS" "" "0000394715" "1" "50" "22" "24145572" "24145572" "del" "0" "00008" "SMARCB1_000064" "g.24145572del" "" "{PMID:Sévenet N 1999:10556283}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803385del" "" "VUS" "" "0000394716" "1" "50" "22" "24145572" "24145572" "del" "0" "00008" "SMARCB1_000064" "g.24145572del" "" "{PMID:Sévenet N 1999:10556283}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803385del" "" "VUS" "" "0000394717" "1" "50" "22" "24134001" "24134001" "subst" "0" "00008" "SMARCB1_000087" "g.24134001G>A" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23791814G>A" "" "VUS" "" "0000394718" "11" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Germline" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394719" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394720" "11" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394721" "1" "50" "22" "24167471" "24167472" "del" "0" "00008" "SMARCB1_000134" "g.24167471_24167472del" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "g.23825284_23825285del" "" "VUS" "" "0000394722" "1" "50" "22" "24167603" "24167603" "subst" "0" "00008" "SMARCB1_000142" "g.24167603G>C" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Germline" "" "" "0" "" "" "g.23825416G>C" "" "VUS" "" "0000394723" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394724" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394726" "1" "50" "22" "24129150" "24145610" "del" "0" "00008" "SMARCB1_000070" "g.(2412915_24129150)_(24145610_24158956)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 1–5, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394727" "1" "50" "22" "24143130" "24159124" "del" "0" "00008" "SMARCB1_000104" "g.(2413587_24143130)_(24159124_24167411)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 4–6, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394728" "1" "50" "22" "24158956" "24159124" "del" "0" "00008" "SMARCB1_000031" "g.(2414561_24158956)_(24159124_24167411)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 6 (mosaic), not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394729" "1" "50" "22" "24167411" "24167603" "del" "0" "00008" "SMARCB1_000130" "g.(2415912_24167411)_(24167603_24175758)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 7, not specified" "Refseq reported:hg18" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394730" "1" "50" "22" "24129150" "24129450" "del" "0" "00008" "SMARCB1_000068" "g.(2412915_24129150)_(24129450_24133942)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 1, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394731" "1" "50" "22" "24158956" "24159124" "dup" "0" "00008" "SMARCB1_000120" "g.(2414561_24158956)_(24159124_24167411)dup" "" "{PMID:Eaton KW 2011:21108436}" "" "Duplication of exon 6, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394732" "1" "50" "22" "24129376" "24129399" "delins" "0" "00008" "SMARCB1_000071" "g.24129376_24129399delinsT" "" "{PMID:Eaton KW 2011:21108436}" "" "Gonadal Mosaicism: c.20_43delinsT, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23787189_23787212delinsT" "" "VUS" "" "0000394733" "1" "50" "22" "24134019" "24134020" "del" "0" "00008" "SMARCB1_000089" "g.24134019_24134020del" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23791832_23791833del" "" "VUS" "" "0000394734" "1" "50" "22" "24135829" "24135829" "subst" "0" "00008" "SMARCB1_000099" "g.24135829A>T" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23793642A>T" "" "VUS" "" "0000394735" "1" "50" "22" "24143189" "24143189" "dup" "0" "00008" "SMARCB1_000108" "g.24143189dup" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23801002dup" "" "VUS" "" "0000394737" "1" "50" "22" "24159039" "24159041" "delins" "0" "00008" "SMARCB1_000122" "g.24159039_24159041delinsGATG" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23816852_23816854delinsGATG" "" "VUS" "" "0000394738" "1" "50" "22" "24143155" "24143155" "subst" "0" "00008" "SMARCB1_000106" "g.24143155C>T" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23800968C>T" "" "VUS" "" "0000394739" "1" "50" "22" "24134001" "24134001" "subst" "0" "00008" "SMARCB1_000087" "g.24134001G>A" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23791814G>A" "" "VUS" "" "0000394740" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Biegel JA 1999:9892189}" "" "single bp substitution, truncating, not specified" "Refseq reported: Y17118–Y17126" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394741" "1" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394742" "1" "50" "22" "24133967" "24133967" "subst" "0" "00008" "SMARCB1_000021" "g.24133967C>T" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791780C>T" "" "VUS" "" "0000394743" "1" "50" "22" "24159055" "24159055" "subst" "0" "00008" "SMARCB1_000123" "g.24159055C>T" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23816868C>T" "" "VUS" "" "0000394744" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Smith MJ 2014:24933152}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394745" "1" "50" "22" "24167604" "24167604" "subst" "0" "00008" "SMARCB1_000143" "g.24167604T>A" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825417T>A" "" "VUS" "" "0000394746" "1" "50" "22" "24135834" "24135834" "subst" "0" "00008" "SMARCB1_000100" "g.24135834C>G" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23793647C>G" "" "VUS" "" "0000394748" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Smith MJ 2014:24933152}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394749" "1" "50" "22" "24129150" "24129450" "del" "0" "00008" "SMARCB1_000068" "g.(2412915_24129150)_(24129450_24133942)del" "" "{PMID:Smith MJ 2014:24933152}" "" "Deletion of exon 1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394750" "1" "50" "22" "24143264" "24143264" "del" "0" "00008" "SMARCB1_000112" "g.24143264del" "" "{PMID:Fujisawa H 2005:15981100}" "" "496del, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801077del" "" "VUS" "" "0000394751" "1" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Bruggers CS 2011:20848638}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394752" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kordes U 2014:24123847}" "" "Duplication of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394753" "1" "50" "22" "24134019" "24134020" "del" "0" "00008" "SMARCB1_000089" "g.24134019_24134020del" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "g.23791832_23791833del" "" "VUS" "" "0000394754" "1" "50" "22" "24133967" "24133967" "subst" "0" "00008" "SMARCB1_000021" "g.24133967C>T" "" "{PMID:Modena P 2013:23510391}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791780C>T" "" "VUS" "" "0000394755" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Beddow RA 2011:23063575}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394756" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Lafay-Cousin L 2009:19938088}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394757" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kerl K 2016:27092963}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394758" "1" "50" "22" "24135758" "24135759" "ins" "0" "00008" "SMARCB1_000098" "g.24135758_24135759insAT" "" "{PMID:Carter JM 2012:22082606}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23793571_23793572insAT" "" "VUS" "" "0000394759" "1" "50" "22" "21976803" "24676569" "del" "0" "00008" "SMARCB1_000065" "g.(21451072_21976803)_(24676569_24701666)del" "" "{PMID:Jackson EM 2007:17541642}" "" "Deletion of SMARCB1, (exon 1 to 9)" "Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394760" "1" "50" "22" "24135758" "24135759" "ins" "0" "00008" "SMARCB1_000098" "g.24135758_24135759insAT" "" "{PMID:Carter JM 2012:22082606}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23793571_23793572insAT" "" "VUS" "" "0000394761" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Ammerlaan AC 2008:18087273}" "" "" "Refseq reported: U04847" "Germline" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000394762" "1" "50" "22" "24129449" "24129449" "subst" "0" "00008" "SMARCB1_000078" "g.24129449G>C" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787262G>C" "" "VUS" "" "0000394763" "1" "50" "22" "24158956" "24159124" "del" "0" "00008" "SMARCB1_000031" "g.(2414561_24158956)_(24159124_24167411)del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of exon 6, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394764" "1" "50" "22" "24143198" "24143198" "del" "0" "00008" "SMARCB1_000109" "g.24143198del" "" "{PMID:Sévenet N 1999:10556283}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23801011del" "" "VUS" "" "0000394765" "1" "50" "22" "24145572" "24145572" "del" "0" "00008" "SMARCB1_000064" "g.24145572del" "" "{PMID:Sévenet N 1999:10556283}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23803385del" "" "VUS" "" "0000394766" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Taylor MD 2000:10739763 }" "" "G?Amutationinthedonorsplicesite" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394767" "1" "50" "22" "24158956" "24159124" "dup" "0" "00008" "SMARCB1_000120" "g.(2414561_24158956)_(24159124_24167411)dup" "" "{PMID:Ibrahim GM 2011:21918902}" "" "Duplication of exon 6, not specified" "Refseq: not provided" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394768" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Ammerlaan AC 2008:18087273}" "" "" "Refseq reported: U04847" "Germline" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000394769" "1" "50" "22" "24176351" "24176351" "subst" "0" "00008" "SMARCB1_000151" "g.24176351C>G" "" "{PMID:Johann PD 2016:27380723}" "" "" "Refseq reported:GSE70460" "Unknown" "" "" "0" "" "" "g.23834164C>G" "" "VUS" "" "0000394770" "1" "50" "22" "24143247" "24143247" "del" "0" "00008" "SMARCB1_000111" "g.24143247del" "" "SMARCB1 database" "" "" "" "Unknown" "" "" "0" "" "" "g.23801060del" "" "VUS" "" "0000394835" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Le Loarer 2014:24585572}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394836" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:Christiaans I 2011:20930055}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394847" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:Christiaans I 2011:20930055}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394848" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:Christiaans I 2011:20930055}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394849" "1" "50" "22" "24135745" "24135745" "subst" "0" "00008" "SMARCB1_000097" "g.24135745G>A" "" "{PMID:Melean G 2012:22752724}" "" "" "" "Germline" "" "" "0" "" "" "g.23793558G>A" "" "VUS" "" "0000394850" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Bacci C 2010:19582488 }" "" "" "" "Germline" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000394856" "1" "50" "22" "0" "0" "del" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Chakrapani AL 2012:22814326}" "" "hg18 (arr 22q11.21q11.23 (20,128,774-22,960,317) × 1)" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394857" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Sévenet N 1999:10556283}" "" "" "" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394858" "1" "50" "22" "24129150" "24145610" "del" "0" "00008" "SMARCB1_000070" "g.(2412915_24129150)_(24145610_24158956)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 1-5, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394859" "1" "50" "22" "24129150" "24134082" "del" "0" "00008" "SMARCB1_000069" "g.(2412915_24129150)_(24134082_24135745)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of exon 1-2, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394860" "1" "50" "22" "24135497" "24135861" "del" "0" "00008" "SMARCB1_000095" "g.24135497_24135861del" "" "EUHRAB" "" "" "" "Unknown" "" "" "0" "" "" "g.23793310_23793674del" "" "VUS" "" "0000394861" "1" "50" "22" "24133967" "24133967" "subst" "0" "00008" "SMARCB1_000021" "g.24133967C>T" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791780C>T" "" "VUS" "" "0000394862" "1" "50" "22" "24167568" "24167568" "dup" "0" "00008" "SMARCB1_000139" "g.24167568dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825381dup" "" "VUS" "" "0000394863" "1" "50" "22" "24133971" "24133971" "dup" "0" "00008" "SMARCB1_000083" "g.24133971dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791784dup" "" "VUS" "" "0000394864" "1" "50" "22" "24159075" "24159075" "dup" "0" "00008" "SMARCB1_000124" "g.24159075dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23816888dup" "" "VUS" "" "0000394865" "1" "50" "22" "24133942" "24134082" "del" "0" "00008" "SMARCB1_000079" "g.(2412945_24133942)_(24134082_24135745)del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of exon 2, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394866" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394867" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394869" "1" "50" "22" "24145610" "24145610" "subst" "0" "00008" "SMARCB1_000118" "g.24145610G>A" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803423G>A" "" "VUS" "" "0000394870" "1" "50" "22" "24167594" "24167594" "subst" "0" "00008" "SMARCB1_000141" "g.24167594C>A" "" "{PMID:Fernandez 2002:11812951}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825407C>A" "" "VUS" "" "0000394871" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Forest F 2012:23154773}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394872" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Toth G 2011:21412926}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394873" "11" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394874" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394875" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bosse KR 2014:25018128}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394943" "1" "50" "22" "24167411" "24167603" "del" "0" "00008" "SMARCB1_000130" "g.(2415912_24167411)_(24167603_24175758)del" "" "{PMID:Bruggers CS 2011:20848638}" "" "Deletion of exon 7" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394944" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kordes U 2014:24123847}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394945" "1" "50" "22" "24158956" "24159124" "dup" "0" "00008" "SMARCB1_000120" "g.(2414561_24158956)_(24159124_24167411)dup" "" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "Duplication of Exon 6, not specified" "Refseq reported:hg19" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394946" "1" "50" "22" "24158956" "24159124" "dup" "0" "00008" "SMARCB1_000120" "g.(2414561_24158956)_(24159124_24167411)dup" "" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "Duplication of Exon 6, not specified" "Refseq reported:hg19" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394947" "1" "50" "22" "24158956" "24159124" "dup" "0" "00008" "SMARCB1_000120" "g.(2414561_24158956)_(24159124_24167411)dup" "" "{PMID:Dunham C 2015: PMID 26351226}, {PMID:Johann PD 2016: PMID 27380723}, {PMID:Savard ML 1989, PMID 2699663}" "" "Duplication of Exon 6, not specified" "Refseq reported:hg19" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000394949" "1" "50" "22" "24133975" "24133976" "ins" "0" "00008" "SMARCB1_000084" "g.24133975_24133976insGCCA" "" "{PMID:Janson K 2006:16261613}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791788_23791789insGCCA" "" "VUS" "" "0000394950" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000394951" "1" "50" "22" "24135758" "24135759" "ins" "0" "00008" "SMARCB1_000098" "g.24135758_24135759insAT" "" "{PMID:Carter JM 2012:22082606}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23793571_23793572insAT" "" "VUS" "" "0000394952" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394953" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394954" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000394955" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Taylor MD 2000:10739763 }" "" "G?A mutation in the donor splice site, truncating, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394956" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Ammerlaan AC 2008:18087273}" "" "" "Refseq reported: U04847" "Unknown" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000394957" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Ammerlaan AC 2008:18087273}" "" "" "Refseq reported: U04847" "Unknown" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000394958" "1" "50" "22" "24159124" "24159124" "subst" "0" "00008" "SMARCB1_000128" "g.24159124G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23816937G>T" "" "VUS" "" "0000394960" "1" "50" "22" "24167603" "24167603" "subst" "0" "00008" "SMARCB1_000142" "g.24167603G>C" "" "{PMID:Bruggers CS 2011:20848638}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23825416G>C" "" "VUS" "" "0000394961" "1" "50" "22" "24145610" "24145610" "subst" "0" "00008" "SMARCB1_000118" "g.24145610G>A" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803423G>A" "" "VUS" "" "0000394975" "11" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Gigante L 2016:26342593}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394976" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Lee HY 2002:12016529}" "" "" "Refseq reported: Y17118-Y17126" "De novo" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394977" "1" "50" "22" "23262944" "24726599" "del" "0" "00008" "SMARCB1_000065" "g.(23152039_23262944)_(24726599_24819702)del" "" "{PMID:Jackson EM 2007:17541642}" "" "Deletion of SMARCB1, (exon 1 to 9)" "Deletion (Proximal:21,482,039-21,592,944 Distal:23,056,599-23,149,702)3" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394978" "11" "50" "22" "24133990" "24133990" "subst" "0" "00008" "SMARCB1_000085" "g.24133990C>A" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "g.23791803C>A" "" "VUS" "" "0000394979" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Savla J 2000:10772683}" "" "codon 91delT, not specified" "Refseq: not provided" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394981" "21" "50" "22" "24143130" "24145610" "del" "0" "00008" "SMARCB1_000033" "g.(2413587_24143130)_(24145610_24158956)del" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion exon 4–5, not specified" "Refseq reported:hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394982" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kordes 2010:19902524}" "" "Deletion of SMARCB1, not specified" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394983" "1" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Kordes 2010:19902524}" "" "" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394984" "1" "50" "22" "24134006" "24134006" "subst" "0" "00008" "SMARCB1_000019" "g.24134006C>T" "" "{PMID:Fujisawa H 2003:12892231}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23791819C>T" "" "VUS" "" "0000394985" "1" "50" "22" "24167506" "24167512" "del" "0" "00008" "SMARCB1_000137" "g.24167506_24167512del" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23825319_23825325del" "" "VUS" "" "0000394986" "1" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Sévenet N 1999:10556283}" "" "" "" "Unknown" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394987" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Fujita M 2005:15881754}" "" "codon 40, not specified" "Refseq reported: Y17118-Y17126" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394988" "1" "50" "22" "24145582" "24145582" "subst" "0" "00008" "SMARCB1_000063" "g.24145582C>T" "" "{PMID:Sévenet N 1999:10521299}" "" "" "Refseq reported: Y17118-Y17126" "De novo" "" "" "0" "" "" "g.23803395C>T" "" "VUS" "" "0000394989" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Sévenet N 1999:10521299}" "" "Deletion of SMARCB1, not specified" "Refseq reported: Y17118-Y17126" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394990" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Seeringer A 2014:25262118}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394991" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000394992" "1" "50" "22" "24158956" "24167603" "dup" "0" "00008" "SMARCB1_000121" "g.(2414561_24158956)_(24167603_24175758)dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Duplication of exon 6–7, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394993" "1" "50" "22" "24167411" "24176705" "del" "0" "00008" "SMARCB1_000131" "g.(2415912_24167411)_(24176705_24176705)del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of exon 7–9, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394994" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394995" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Bourdeaut F 2011:21208904}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000394997" "11" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Gigante L 2016:26342593}" "" "Deletion of SMARCB1, not specified" "Refseq: not provided" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000394998" "1" "50" "22" "24133947" "24133947" "dup" "0" "00008" "SMARCB1_000080" "g.24133947dup" "" "SMARCB1 database" "" "" "" "Unknown" "" "" "0" "" "" "g.23791760dup" "" "VUS" "" "0000394999" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Biegel JA 2002:12429635}" "" "c.789, Gln-->Stop - not specified" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000395000" "1" "50" "22" "23708363" "24726599" "del" "0" "00008" "SMARCB1_000065" "g.(23691018_23708363)_(24726599_24819702)del" "" "{PMID:Jackson EM 2007:17541642}" "" "Deletion of SMARCB1, (exon 1 to 9)" "Deletion (Proximal:22,021,018-22,038,363 Distal:23,056,599-23,149,702) hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395001" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Kordes 2010:19902524}" "" "Deletion of SMARCB1, not specified" "Refseq reported: Y17118-Y17126" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395002" "1" "50" "22" "24134046" "24134046" "subst" "0" "00008" "SMARCB1_000092" "g.24134046C>A" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23791859C>A" "" "VUS" "" "0000395003" "1" "50" "22" "24145573" "24145573" "subst" "0" "00008" "SMARCB1_000116" "g.24145573C>T" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23803386C>T" "" "VUS" "" "0000395004" "1" "50" "22" "23924406" "24879777" "del" "0" "00008" "SMARCB1_000065" "g.(23850497_23924406)_(24879777_24904683)del" "" "{PMID:Jackson EM 2007:17541642}" "" "Deletion of SMARCB1, (exon 1 to 9)" "Deletion (Proximal:22,180,497-22,254,406 Distal:23,209,777-23,234,683) hg18" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000395006" "1" "50" "22" "24145545" "24145545" "del" "0" "00008" "SMARCB1_000115" "g.24145545del" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23803358del" "" "VUS" "" "0000395007" "1" "50" "22" "24159088" "24159088" "dup" "0" "00008" "SMARCB1_000126" "g.24159088dup" "" "{PMID:Bourdeaut F 2011:21208904}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23816901dup" "" "VUS" "" "0000395008" "1" "50" "22" "24145573" "24145573" "subst" "0" "00008" "SMARCB1_000116" "g.24145573C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Germline" "" "" "0" "" "" "g.23803386C>T" "" "VUS" "" "0000395009" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Lee HY 2002:12016529}" "" "" "Refseq: not provided" "De novo" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000395010" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Wieser R 2005:15957176}" "" "Deletion of SMARCB1, not specified" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000395011" "1" "50" "22" "24167413" "24167413" "del" "0" "00008" "SMARCB1_000133" "g.24167413del" "" "{PMID:Biegel JA 1999:9892189}" "" "797del(10), not specified" "Refseq reported: Y17118–Y17126" "Unknown" "" "" "0" "" "" "g.23825226del" "" "VUS" "" "0000395012" "1" "50" "22" "24133993" "24133993" "dup" "0" "00008" "SMARCB1_000086" "g.24133993dup" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "Unknown" "" "" "0" "" "" "g.23791806dup" "" "VUS" "" "0000395013" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Biegel JA 1999:9892189}" "" "" "Refseq reported: AP000349-350" "De novo" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000395014" "1" "50" "22" "0" "0" "" "0" "00008" "LARGE_000000" "g.?" "" "{PMID:Eaton KW 2011:21108436}" "" "Deletion of SMARCB1, not specified" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395015" "1" "50" "22" "21976803" "24676569" "del" "0" "00008" "SMARCB1_000065" "g.(21451072_21976803)_(24676569_24701666)del" "" "{PMID:Jackson EM 2007:17541642}" "" "Deletion of SMARCB1, (exon 1 to 9)" "Deletion (Proximal:19,781,072-20,306,803 Distal:23,006,569-23,031,666) hg18" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395016" "1" "50" "22" "24145598" "24145598" "subst" "0" "00008" "SMARCB1_000117" "g.24145598G>A" "" "{PMID:Biegel JA 2002:12429635}" "" "" "Refseq reported: AP000349-350" "Unknown" "" "" "0" "" "" "g.23803411G>A" "" "VUS" "" "0000395043" "1" "50" "22" "24129390" "24129390" "subst" "0" "00008" "SMARCB1_000003" "g.24129390C>T" "" "{PMID:Hulsebos TJ 2007:17357086}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23787203C>T" "" "VUS" "" "0000395044" "1" "50" "22" "24135744" "24135750" "del" "0" "00008" "SMARCB1_000096" "g.24135744_24135750del" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23793557_23793563del" "" "VUS" "" "0000395045" "1" "50" "22" "24135744" "24135750" "del" "0" "00008" "SMARCB1_000096" "g.24135744_24135750del" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Germline" "" "" "0" "" "" "g.23793557_23793563del" "" "VUS" "" "0000395046" "1" "50" "22" "24135744" "24135750" "del" "0" "00008" "SMARCB1_000096" "g.24135744_24135750del" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Germline" "" "" "0" "" "" "g.23793557_23793563del" "" "VUS" "" "0000395047" "1" "50" "22" "24143160" "24143160" "subst" "0" "00008" "SMARCB1_000107" "g.24143160G>A" "" "{PMID:Wu J 2015:26342709}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23800973G>A" "" "VUS" "" "0000395048" "1" "50" "22" "24143160" "24143160" "subst" "0" "00008" "SMARCB1_000107" "g.24143160G>A" "" "{PMID:Wu J 2015:26342709}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23800973G>A" "" "VUS" "" "0000395049" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395050" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395051" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395052" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395053" "1" "50" "22" "24129390" "24129390" "subst" "0" "00008" "SMARCB1_000003" "g.24129390C>T" "" "{PMID:Hulsebos TJ 2007:17357086}" "" "" "Refseq reported: U04847.1" "Unknown" "" "" "0" "" "" "g.23787203C>T" "" "VUS" "" "0000395054" "0" "50" "22" "24167480" "24167480" "subst" "0" "00008" "SMARCB1_000136" "g.24167480C>G" "" "{PMID:Hadfield KD 2008:18285426}" "" "c.864C>G, p.(Asn288Lys); c.1032-12C>G" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23825293C>G" "" "VUS" "" "0000395056" "0" "50" "22" "24167480" "24167480" "subst" "0" "00008" "SMARCB1_000136" "g.24167480C>G" "" "{PMID:Hadfield KD 2008:18285426}" "" "c.864C>G, p.(Asn288Lys); c.1032-12C>G" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23825293C>G" "" "VUS" "" "0000395058" "0" "50" "22" "24167480" "24167480" "subst" "0" "00008" "SMARCB1_000136" "g.24167480C>G" "" "{PMID:Hadfield KD 2008:18285426}" "" "c.864C>G, p.(Asn288Lys); c.1032-12C>G" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23825293C>G" "" "VUS" "" "0000395060" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Bacci C 2010:19582488 }" "" "" "" "Germline" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000395061" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000395062" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000395063" "1" "50" "22" "24158596" "24161226" "dup" "0" "00008" "SMARCB1_000119" "g.24158596_24161226dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "hg18 (chr22:g.22488596_22491226dup2631)" "" "Germline" "" "" "0" "" "" "g.23816409_23819039dup" "" "VUS" "" "0000395064" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395065" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395066" "1" "50" "22" "24134007" "24134007" "subst" "0" "00008" "SMARCB1_000088" "g.24134007G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23791820G>T" "" "VUS" "" "0000395067" "1" "50" "22" "24135876" "24135876" "subst" "0" "00008" "SMARCB1_000102" "g.24135876G>A" "" "{PMID:Hulsebos TJ 2014:24525513}" "" "" "Refseq reported: U04847.1" "Unknown" "" "" "0" "" "" "g.23793689G>A" "" "VUS" "" "0000395068" "1" "50" "22" "24134007" "24134007" "subst" "0" "00008" "SMARCB1_000088" "g.24134007G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23791820G>T" "" "VUS" "" "0000395069" "1" "50" "22" "24134007" "24134007" "subst" "0" "00008" "SMARCB1_000088" "g.24134007G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23791820G>T" "" "VUS" "" "0000395070" "1" "50" "22" "24134007" "24134007" "subst" "0" "00008" "SMARCB1_000088" "g.24134007G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23791820G>T" "" "VUS" "" "0000395071" "1" "50" "22" "24134007" "24134007" "subst" "0" "00008" "SMARCB1_000088" "g.24134007G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23791820G>T" "" "VUS" "" "0000395072" "1" "50" "22" "24135876" "24135876" "subst" "0" "00008" "SMARCB1_000102" "g.24135876G>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23793689G>A" "" "VUS" "" "0000395073" "1" "50" "22" "24135876" "24135876" "subst" "0" "00008" "SMARCB1_000102" "g.24135876G>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23793689G>A" "" "VUS" "" "0000395074" "1" "50" "22" "24143132" "24143132" "subst" "0" "00008" "SMARCB1_000105" "g.24143132G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23800945G>T" "" "VUS" "" "0000395075" "1" "50" "22" "24143132" "24143132" "subst" "0" "00008" "SMARCB1_000105" "g.24143132G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23800945G>T" "" "VUS" "" "0000395076" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000395077" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000395078" "1" "50" "22" "24135876" "24135876" "subst" "0" "00008" "SMARCB1_000102" "g.24135876G>A" "" "{PMID:Hulsebos TJ 2014:24525513}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23793689G>A" "" "VUS" "" "0000395079" "1" "50" "22" "24143269" "24143269" "subst" "0" "00008" "SMARCB1_000113" "g.24143269G>A" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23801082G>A" "" "VUS" "" "0000395080" "1" "50" "22" "24159124" "24159124" "subst" "0" "00008" "SMARCB1_000128" "g.24159124G>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523" "Unknown" "" "" "0" "" "" "g.23816937G>T" "" "VUS" "" "0000395081" "1" "50" "22" "24135758" "24135759" "ins" "0" "00008" "SMARCB1_000098" "g.24135758_24135759insAT" "" "{PMID:Carter JM 2012:22082606}" "" "" "Refseq: not provided" "De novo" "" "" "0" "" "" "g.23793571_23793572insAT" "" "VUS" "" "0000395082" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000395083" "1" "50" "22" "24143240" "24143240" "subst" "0" "00008" "SMARCB1_000015" "g.24143240C>T" "" "{PMID:Eaton KW 2011:21108436}" "" "" "Refseq reported:hg18" "Unknown" "" "" "0" "" "" "g.23801053C>T" "" "VUS" "" "0000395084" "1" "50" "22" "24129402" "24129402" "subst" "0" "00008" "SMARCB1_000075" "g.24129402A>T" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787215A>T" "" "VUS" "" "0000395085" "1" "50" "22" "24175878" "24175878" "subst" "0" "00008" "SMARCB1_000149" "g.24175878A>T" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23833691A>T" "" "VUS" "" "0000395086" "1" "50" "22" "24129442" "24129447" "del" "0" "00008" "SMARCB1_000076" "g.24129442_24129447del" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "Refseq reported:NC_000022.9" "Unknown" "" "" "0" "" "" "g.23787255_23787260del" "" "VUS" "" "0000395087" "1" "50" "22" "24129390" "24129390" "subst" "0" "00008" "SMARCB1_000003" "g.24129390C>T" "" "{PMID:Smith MJ 2012:22434358}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787203C>T" "" "VUS" "" "0000395088" "1" "50" "22" "24129397" "24129397" "subst" "0" "00008" "SMARCB1_000074" "g.24129397C>A" "" "{PMID:Smith MJ 2012:22434358}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787210C>A" "" "VUS" "" "0000395089" "1" "50" "22" "24175891" "24175891" "subst" "0" "00008" "SMARCB1_000150" "g.24175891G>A" "" "{PMID:Hulsebos TJ 010,:19912265}" "" "" "Refseq reported: U04847.1 / mother is germ line mosaic" "Germline" "" "" "0" "" "" "g.23833704G>A" "" "VUS" "" "0000395090" "1" "50" "22" "24134052" "24134065" "delins" "0" "00008" "SMARCB1_000093" "g.24134052_24134065delinsTACC" "" "{PMID:Sestini R 2008:18072270}" "" "" "" "Unknown" "" "" "0" "" "" "g.23791865_23791878delinsTACC" "" "VUS" "" "0000395091" "1" "50" "22" "24129442" "24129447" "del" "0" "00008" "SMARCB1_000076" "g.24129442_24129447del" "" "{PMID:Hadfield KD 2008:18285426}" "" "" "" "Unknown" "" "" "0" "" "" "g.23787255_23787260del" "" "VUS" "" "0000395092" "1" "50" "22" "24129386" "24129386" "del" "0" "00008" "SMARCB1_000037" "g.24129386del" "" "{PMID:Rousseau G 2011:21255467}" "" "" "" "Unknown" "" "" "0" "" "" "g.23787199del" "" "VUS" "" "0000395093" "1" "50" "22" "24167587" "24167594" "delins" "0" "00008" "SMARCB1_000140" "g.24167587_24167594delinsTGCTACCT" "" "{PMID:Rousseau G 2011:21255467}" "" "" "" "Unknown" "" "" "0" "" "" "g.23825400_23825407delinsTGCTACCT" "" "VUS" "" "0000395094" "1" "50" "22" "24175793" "24175793" "del" "0" "00008" "SMARCB1_000147" "g.24175793del" "" "{PMID:Smith MJ 2012:22434358}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23833606del" "" "VUS" "" "0000395095" "1" "50" "22" "24129442" "24129447" "del" "0" "00008" "SMARCB1_000076" "g.24129442_24129447del" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787255_23787260del" "" "VUS" "" "0000395096" "1" "50" "22" "24175772" "24175773" "ins" "0" "00008" "SMARCB1_000145" "g.24175772_24175773insG" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23833585_23833586insG" "" "VUS" "" "0000395097" "1" "50" "22" "24129396" "24129396" "subst" "0" "00008" "SMARCB1_000073" "g.24129396C>T" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787209C>T" "" "VUS" "" "0000395098" "1" "50" "22" "24165166" "24172852" "dup" "0" "00008" "SMARCB1_000129" "g.24165166_24172852dup" "" "{PMID:Hulsebos TJ 2016:26799435}" "" "c.796-2246_986 + 5250dup7686, p. Glu330*" "mosaic in all schwanommas, loss of expression in the pRCC1\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395099" "1" "50" "22" "24175891" "24175891" "subst" "0" "00008" "SMARCB1_000150" "g.24175891G>A" "" "{PMID:Hulsebos TJ 010,:19912265}" "" "" "Refseq reported: U04847.1 / mother is germ line mosaic" "Germline" "" "" "0" "" "" "g.23833704G>A" "" "VUS" "" "0000395100" "1" "50" "22" "24175891" "24175891" "subst" "0" "00008" "SMARCB1_000150" "g.24175891G>A" "" "{PMID:Paganini I 2015:26001331}" "" "" "Refseq: not provided" "De novo" "" "" "0" "" "" "g.23833704G>A" "" "VUS" "" "0000395101" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395102" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395103" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395104" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395105" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395106" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Boyd 2008:18647326}" "" "" "Refseq reported: AB017523\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000395107" "1" "50" "22" "24129394" "24129394" "del" "0" "00008" "SMARCB1_000072" "g.24129394del" "" "{PMID:Smith MJ 2014:24933152}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787207del" "" "VUS" "" "0000395108" "1" "50" "22" "24176330" "24176330" "subst" "0" "00008" "SMARCB1_000012" "g.24176330G>A" "" "{PMID:Gossai N 2015:26364901}" "" "" "listed as well in \"\"SCHWANNOMA\"\", same patient" "Unknown" "" "" "0" "" "" "g.23834143G>A" "" "VUS" "" "0000395109" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Asai K 2015:25631985}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23834262C>T" "" "VUS" "" "0000395110" "1" "50" "22" "24134056" "24134057" "dup" "0" "00008" "SMARCB1_000094" "g.24134056_24134057dup" "" "{PMID:Melean G 2012:22752724}" "" "" "" "Germline" "" "" "0" "" "" "g.23791869_23791870dup" "" "VUS" "" "0000395111" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Asai K 2015:25631985}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23834262C>T" "" "VUS" "" "0000395112" "1" "50" "22" "24176449" "24176449" "subst" "0" "00008" "SMARCB1_000057" "g.24176449C>T" "" "{PMID:Asai K 2015:25631985}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23834262C>T" "" "VUS" "" "0000395113" "1" "50" "22" "24134056" "24134057" "dup" "0" "00008" "SMARCB1_000094" "g.24134056_24134057dup" "" "{PMID:Melean G 2012:22752724}" "" "" "" "Germline" "" "" "0" "" "" "g.23791869_23791870dup" "" "VUS" "" "0000395114" "1" "50" "22" "24135745" "24135745" "subst" "0" "00008" "SMARCB1_000097" "g.24135745G>A" "" "{PMID:Melean G 2012:22752724}" "" "" "" "Germline" "" "" "0" "" "" "g.23793558G>A" "" "VUS" "" "0000395115" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:Christiaans I 2011:20930055}" "" "" "Refseq reported: U04847.1" "Unknown" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395116" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395117" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395118" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395119" "1" "50" "22" "24134056" "24134057" "dup" "0" "00008" "SMARCB1_000094" "g.24134056_24134057dup" "" "{PMID:Melean G 2012:22752724}" "" "" "" "Unknown" "" "" "0" "" "" "g.23791869_23791870dup" "" "VUS" "" "0000395120" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Bacci C 2010:19582488 }" "" "" "" "Germline" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000395121" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Bacci C 2010:19582488 }" "" "" "" "Germline" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000395122" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Smith MJ 2012:22434358}" "" "" "Refseq: not provided" "Unknown" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000395123" "1" "50" "22" "24129448" "24129448" "subst" "0" "00008" "SMARCB1_000077" "g.24129448A>T" "" "{PMID:Rousseau G 2011:21255467}" "" "" "" "Unknown" "" "" "0" "" "" "g.23787261A>T" "" "VUS" "" "0000395124" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395125" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395126" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395127" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:Christiaans I 2011:20930055}" "" "" "Refseq: not provided" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395128" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Unknown" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395129" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395130" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000395131" "1" "50" "22" "24133992" "24133992" "subst" "0" "00008" "SMARCB1_000043" "g.24133992C>T" "" "{PMID:van den Munckhof P 2012:22038540}" "" "" "Refseq reported: U04847.1" "Germline" "" "" "0" "" "" "g.23791805C>T" "" "VUS" "" "0000398474" "0" "50" "22" "24158955" "24158955" "subst" "0" "00008" "SMARCB1_000020" "g.24158955A>G" "" "" "" "IVS5-2A>G" "" "Germline" "" "" "0" "" "" "g.23816768A>G" "" "VUS" "" "0000400768" "0" "50" "22" "24158997" "24158998" "del" "0" "00008" "SMARCB1_000066" "g.24158997_24158998del" "" "{PMID:Jackson EM 2007:17541642}" "" "TG deletion of 667–668 or 669–670" "" "Somatic" "" "" "0" "" "" "g.23816810_23816811del" "" "VUS" "" "0000400772" "0" "50" "22" "24145559" "24145566" "dup" "0" "00008" "SMARCB1_000067" "g.24145559_24145566dup" "" "{PMID:Swensen JJ 2009:19124645}" "" "" "" "Somatic" "" "" "0" "" "" "g.23803372_23803379dup" "" "VUS" "" "0000438819" "0" "50" "22" "24129440" "24129440" "subst" "0" "01164" "SMARCB1_000152" "g.24129440C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23787253C>G" "" "VUS" "ACMG" "0000571554" "0" "10" "22" "24129566" "24129569" "dup" "0" "01943" "DERL3_000002" "g.24129566_24129569dup" "" "" "" "SMARCB1(NM_003073.3):c.93+117_93+120dupGCGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23787379_23787382dup" "" "benign" "" "0000571555" "0" "10" "22" "24129567" "24129568" "ins" "0" "01943" "DERL3_000003" "g.24129567_24129568insTC" "" "" "" "SMARCB1(NM_003073.3):c.93+118_93+119insTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23787380_23787381insTC" "" "benign" "" "0000571556" "0" "50" "22" "24135823" "24135823" "subst" "4.06055E-6" "01804" "DERL3_000004" "g.24135823G>A" "" "" "" "SMARCB1(NM_003073.3):c.310G>A (p.(Asp104Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23793636G>A" "" "VUS" "" "0000571557" "0" "90" "22" "24143269" "24143269" "subst" "0" "02327" "SMARCB1_000113" "g.24143269G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23801082G>A" "" "pathogenic" "" "0000571558" "0" "90" "22" "24145531" "24145531" "subst" "0" "02327" "DERL3_000005" "g.24145531G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23803344G>T" "" "pathogenic" "" "0000571560" "0" "50" "22" "24167518" "24167518" "subst" "0" "01804" "DERL3_000007" "g.24167518T>C" "" "" "" "SMARCB1(NM_003073.3):c.902T>C (p.(Leu301Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23825331T>C" "" "VUS" "" "0000571561" "0" "10" "22" "24176483" "24176483" "dup" "0" "01943" "DERL3_000008" "g.24176483dup" "" "" "" "SMARCB1(NM_003073.3):c.*116dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23834296dup" "" "benign" "" "0000571562" "0" "30" "22" "24179066" "24179066" "subst" "0.00977851" "01804" "DERL3_000009" "g.24179066G>A" "" "" "" "DERL3(NM_001002862.2):c.698C>T (p.(Pro233Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23836879G>A" "" "likely benign" "" "0000599120" "0" "10" "22" "24167513" "24167513" "subst" "0.112444" "02337" "SMARCB1_000008" "g.24167513G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825326G>A" "" "benign" "" "0000618499" "0" "90" "22" "24175863" "24175865" "del" "0" "01804" "SMARCB1_000001" "g.24175863_24175865del" "" "" "" "SMARCB1(NM_003073.3):c.1085_1087del (p.(Lys364del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23833676_23833678del" "" "pathogenic" "" "0000618500" "0" "90" "22" "24176449" "24176449" "subst" "0" "02327" "SMARCB1_000057" "g.24176449C>T" "" "" "" "SMARCB1(NM_003073.3):c.*82C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23834262C>T" "" "pathogenic" "" "0000650929" "1" "50" "22" "24143573" "24143573" "subst" "0" "03575" "SMARCB1_000154" "g.24143573C>A" "120/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 120 heterozygous; {DB:CLININrs35502837}" "Germline" "" "rs35502837" "0" "" "" "g.23801386C>A" "" "VUS" "" "0000658905" "0" "30" "22" "24145459" "24145459" "subst" "0.00364489" "02327" "DERL3_000014" "g.24145459T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.23803272T>G" "" "likely benign" "" "0000669709" "3" "50" "22" "24143573" "24143573" "subst" "0" "03575" "SMARCB1_000154" "g.24143573C>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 homozygous; {DB:CLININrs35502837}" "Germline" "" "rs35502837" "0" "" "" "g.23801386C>A" "" "VUS" "" "0000682746" "0" "70" "22" "24175818" "24175818" "subst" "0" "03753" "SMARCB1_000155" "g.24175818G>A" "0.031" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000698364" "21" "50" "22" "24158974" "24158974" "subst" "0" "00006" "SMARCB1_000156" "g.24158974G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline" "" "" "0" "" "" "g.23816787G>A" "" "VUS" "ACMG" "0000839294" "0" "30" "22" "24167351" "24167351" "subst" "0" "04260" "SMARCB1_000157" "g.24167351C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.23825164C>T" "" "benign" "ACMG" "0000856074" "0" "90" "22" "24167411" "24167411" "subst" "0" "02327" "DERL3_000016" "g.24167411G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856075" "0" "30" "22" "24176413" "24176413" "subst" "0" "02369" "DERL3_000017" "g.24176413G>A" "" "" "" "SMARCB1(NM_003073.3):c.*46G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866742" "0" "50" "22" "24158969" "24158969" "subst" "4.06458E-6" "02329" "DERL3_000015" "g.24158969C>T" "" "" "" "SMARCB1(NM_003073.3):c.641C>T (p.(Thr214Met)), SMARCB1(NM_003073.5):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866743" "0" "30" "22" "24177124" "24177124" "subst" "0.000253803" "01943" "DERL3_000018" "g.24177124G>A" "" "" "" "DERL3(NM_001135751.1):c.615-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877217" "0" "90" "22" "24175885" "24175885" "subst" "0" "00006" "SMARCB1_000158" "g.24175885C>G" "" "{PMID:Monroe 2016:26845106}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000895612" "0" "50" "22" "24129411" "24129411" "subst" "0" "02325" "DERL3_000019" "g.24129411C>A" "" "" "" "SMARCB1(NM_003073.5):c.55C>A (p.L19M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895613" "0" "90" "22" "24133967" "24133967" "subst" "0" "02327" "SMARCB1_000021" "g.24133967C>T" "" "" "" "SMARCB1(NM_003073.3):c.118C>T (p.R40*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895614" "0" "50" "22" "24159112" "24159112" "subst" "0" "02325" "DERL3_000020" "g.24159112G>A" "" "" "" "SMARCB1(NM_003073.5):c.784G>A (p.V262I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895615" "0" "30" "22" "24167594" "24167594" "subst" "5.28163E-5" "02325" "DERL3_000021" "g.24167594C>T" "" "" "" "SMARCB1(NM_003073.5):c.978C>T (p.Y326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922605" "0" "90" "22" "24133959" "24133959" "subst" "0" "00006" "SMARCB1_000042" "g.24133959G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.23791772G>A" "" "pathogenic (dominant)" "ACMG" "0000922606" "0" "90" "22" "24133959" "24133959" "subst" "0" "00006" "SMARCB1_000042" "g.24133959G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.23791772G>A" "" "pathogenic (dominant)" "ACMG" "0000922607" "0" "90" "22" "24133959" "24133959" "subst" "0" "00006" "SMARCB1_000042" "g.24133959G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.23791772G>A" "" "pathogenic (dominant)" "ACMG" "0000922608" "0" "70" "22" "24167428" "24167428" "subst" "0" "00006" "SMARCB1_000159" "g.24167428G>A" "" "{PMID:Chen 2022:34906496}" "" "" "" "De novo" "" "" "0" "" "" "g.23825241G>A" "" "likely pathogenic (dominant)" "ACMG" "0000922609" "0" "50" "22" "24175861" "24175861" "subst" "0" "00006" "SMARCB1_000062" "g.24175861G>T" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2" "De novo" "" "" "0" "" "" "g.23833674G>T" "" "VUS" "ACMG" "0000922610" "0" "90" "22" "24176330" "24176330" "subst" "0" "00006" "SMARCB1_000012" "g.24176330G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.23834143G>A" "" "pathogenic (dominant)" "ACMG" "0000922611" "0" "90" "22" "24176330" "24176330" "subst" "0" "00006" "SMARCB1_000012" "g.24176330G>A" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.23834143G>A" "" "pathogenic (dominant)" "ACMG" "0000927118" "0" "30" "22" "24129366" "24129366" "subst" "0" "02327" "DERL3_000022" "g.24129366A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927119" "0" "90" "22" "24143273" "24143273" "subst" "0" "02327" "DERL3_000023" "g.24143273G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927449" "0" "90" "22" "24176336" "24176336" "subst" "0" "01358" "SMARCB1_000161" "g.24176336G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.23834149G>A" "" "pathogenic" "" "0000944606" "0" "90" "22" "24175842" "24175842" "subst" "0" "01358" "SMARCB1_000162" "g.24175842C>T" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS2, PM1, PM2" "De novo" "" "" "0" "" "" "g.23833655C>T" "" "pathogenic (dominant)" "ACMG" "0000944607" "0" "90" "22" "24175842" "24175842" "subst" "0" "01358" "SMARCB1_000162" "g.24175842C>T" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS2, PM1, PM2" "De novo" "" "" "0" "" "" "g.23833655C>T" "" "pathogenic (dominant)" "ACMG" "0000944608" "0" "90" "22" "24175861" "24175861" "subst" "0" "01358" "SMARCB1_000062" "g.24175861G>T" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS1, PS2, PM1, PM2" "De novo" "" "" "0" "" "" "g.23833674G>T" "" "pathogenic (dominant)" "ACMG" "0000944609" "0" "90" "22" "24175863" "24175865" "del" "0" "01358" "SMARCB1_000001" "g.24175863_24175865del" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS1, PS2, PM1, PM2, PM4" "De novo" "" "" "0" "" "" "g.23833676_23833678del" "" "pathogenic (dominant)" "ACMG" "0000944610" "0" "90" "22" "24175879" "24175879" "subst" "0" "01358" "SMARCB1_000060" "g.24175879C>G" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS2, PM1, PM2" "De novo" "" "" "0" "" "" "g.23833692C>G" "" "pathogenic (dominant)" "ACMG" "0000944611" "0" "90" "22" "24176339" "24176339" "subst" "0" "01358" "SMARCB1_000002" "g.24176339G>A" "" "{PMID:van der Sluijs 2022:35579625}" "" "" "ACMG PS1, PS2, PM1, PM2" "De novo" "" "" "0" "" "" "g.23834152G>A" "" "pathogenic (dominant)" "ACMG" "0000951552" "0" "50" "22" "24145549" "24145549" "subst" "0" "02329" "DERL3_000024" "g.24145549C>T" "" "" "" "SMARCB1(NM_003073.5):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970407" "0" "50" "22" "24133958" "24133958" "subst" "0" "02325" "DERL3_000025" "g.24133958C>T" "" "" "" "SMARCB1(NM_003073.5):c.109C>T (p.R37C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984136" "0" "30" "22" "24143292" "24143292" "subst" "0.00111696" "01804" "SMARCB1_000050" "g.24143292C>G" "" "" "" "SMARCB1(NM_001317946.2):c.497C>G (p.(Thr166Ser)), SMARCB1(NM_003073.3):c.500+24C>G, SMARCB1(NM_003073.5):c.500+24C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984137" "0" "30" "22" "24167608" "24167608" "subst" "0" "01804" "DERL3_000026" "g.24167608A>T" "" "" "" "SMARCB1(NM_003073.5):c.986+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984138" "0" "50" "22" "24179899" "24179899" "subst" "3.66268E-5" "02325" "DERL3_000027" "g.24179899G>A" "" "" "" "SMARCB1(NM_003073.5):c.*3532G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989510" "0" "70" "22" "24133959" "24133959" "subst" "0" "00006" "SMARCB1_000042" "g.24133959G>A" "" "{PMID:Kleefstra 2012:22726846}" "" "" "" "De novo" "" "" "0" "" "" "g.23791772G>A" "" "likely pathogenic (dominant)" "" "0001005949" "0" "50" "22" "24158969" "24158969" "subst" "4.06458E-6" "01804" "DERL3_000015" "g.24158969C>T" "" "" "" "SMARCB1(NM_003073.3):c.641C>T (p.(Thr214Met)), SMARCB1(NM_003073.5):c.641C>T (p.T214M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022206" "0" "50" "22" "24143275" "24143275" "subst" "0" "04796" "SMARCB1_000049" "g.24143275A>G" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.23801088A>G" "" "VUS" "" "0001027376" "0" "30" "22" "24143292" "24143292" "subst" "0.00111696" "02329" "SMARCB1_000050" "g.24143292C>G" "" "" "" "SMARCB1(NM_001317946.2):c.497C>G (p.(Thr166Ser)), SMARCB1(NM_003073.3):c.500+24C>G, SMARCB1(NM_003073.5):c.500+24C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027377" "0" "50" "22" "24175793" "24175793" "subst" "0" "02329" "SMARCB1_000160" "g.24175793C>T" "" "" "" "SMARCB1(NM_003073.5):c.1021C>T (p.R341W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043754" "0" "30" "22" "24158976" "24158976" "subst" "4.06359E-6" "01804" "DERL3_000028" "g.24158976G>A" "" "" "" "SMARCB1(NM_003073.5):c.648G>A (p.(Glu216=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046807" "0" "90" "22" "24145490" "24145493" "dup" "0" "02325" "DERL3_000029" "g.24145490_24145493dup" "" "" "" "SMARCB1(NM_003073.5):c.509_512dupACCA (p.H171Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001048204" "0" "30" "22" "24143326" "24143326" "subst" "0" "03779" "SMARCB1_000163" "g.24143326C>T" "" "" "" "" "" "Unknown" "" "rs12160092" "0" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SMARCB1 ## Count = 435 "{{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}}" "0000018690" "00019423" "90" "1089" "0" "1089" "0" "c.1089G>T" "r.(?)" "p.(Lys363Asn)" "" "0000018694" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000018695" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000018696" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000018961" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018962" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018963" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018964" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018965" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018966" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018967" "00019423" "55" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000018968" "00019423" "55" "233" "-43" "233" "-43" "c.233-43A>T" "r.(=)" "p.(=)" "" "0000018969" "00019423" "55" "233" "-43" "233" "-43" "c.233-43A>T" "r.(=)" "p.(=)" "" "0000018970" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018971" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018972" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018973" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018974" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018975" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018976" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018977" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018978" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018979" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000018980" "00019423" "55" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000064349" "00019423" "10" "629" "-62" "629" "-62" "c.629-62A>G" "r.(=)" "p.(=)" "" "0000064350" "00019423" "10" "629" "-58" "629" "-58" "c.629-58C>A" "r.(=)" "p.(=)" "" "0000064351" "00019423" "10" "1119" "-41" "1119" "-41" "c.1119-41G>A" "r.(=)" "p.(=)" "" "0000064352" "00019423" "10" "897" "0" "897" "0" "c.897G>A" "r.(=)" "p.(=)" "" "0000064353" "00019423" "10" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000076969" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076970" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076971" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076972" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076973" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076974" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000076975" "00019423" "90" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" "" "0000076976" "00019423" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "9" "0000076977" "00019423" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Cys)" "8" "0000079542" "00019423" "00" "1084" "0" "1093" "0" "c.1084_1093delinsG" "r.(?)" "p.(Glu362_Ile365delinsVal)" "" "0000170281" "00019423" "90" "93" "559" "93" "559" "c.93+559A>G" "r.93_94ins93+483_93+554" "p.Val32fs" "1i" "0000174104" "00019423" "90" "655" "0" "655" "0" "c.655del" "r.(?)" "p.(Ser219Glnfs*10)" "6" "0000174105" "00019423" "90" "844" "0" "844" "0" "c.844del" "r.(?)" "p.(Asp282Thrfs*14)" "7" "0000174106" "00019423" "90" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Tyr248*)" "6" "0000174107" "00019423" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000174108" "00019423" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000174109" "00019423" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000174110" "00019423" "70" "628" "13" "628" "13" "c.628+13C>T" "r.(?)" "p.(=)" "5i" "0000174111" "00019423" "70" "629" "-2" "629" "-2" "c.629-2A>G" "r.spl" "p.?" "5i" "0000174112" "00019423" "90" "843" "0" "843" "0" "c.843G>A" "r.(?)" "p.(Trp281*)" "7" "0000174113" "00019423" "70" "986" "1" "986" "1" "c.986+1G>A" "r.spl" "p.?" "7i" "0000174114" "00019423" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Trp281*)" "7" "0000174115" "00019423" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Trp281*)" "7" "0000174116" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000174117" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000174118" "00019423" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000174119" "00019423" "90" "1110" "0" "1110" "0" "c.1110del" "r.(?)" "p.(Asn371Thrfs*5)" "8" "0000174120" "00019423" "90" "825" "0" "838" "0" "c.825_838del" "r.(?)" "p.(Asp277Glyfs*79)" "7" "0000174121" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000174122" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000174123" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000174124" "00019423" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000174125" "00019423" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000174186" "00019423" "70" "629" "-2" "629" "-2" "c.629-2A>G" "r.spl" "p.?" "5i" "0000174340" "00019423" "90" "-1" "0" "628" "1" "c.(?_-1)_(628+1_629-1)del" "r.0?" "p.0?" "_1_5i" "0000174341" "00019423" "90" "987" "-1" "1159" "0" "c.(986+1_987-1)_(*1_?)del" "r.?" "p.?" "7i_9_" "0000174342" "00019423" "50" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174343" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174344" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174345" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174346" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174347" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174348" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174349" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174350" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174351" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174352" "00019423" "90" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)del" "r.?" "p.?" "5i_6i" "0000174353" "00019423" "90" "94" "-1" "1159" "0" "c.(93+1_94-1)_(*1_?)del" "r.?" "p.?" "1i_9_" "0000174354" "00019423" "90" "-1" "0" "1159" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174355" "00019423" "90" "363" "-1" "628" "1" "c.(362+1_363-1)_(628+1_629-1)del" "r.?" "p.?" "3i_5i" "0000174356" "00019423" "90" "987" "-1" "1159" "0" "c.(986+1_987-1)_(*1_?)del" "r.?" "p.?" "7i_9_" "0000174358" "00019423" "90" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)del" "r.?" "p.?" "5i_6i" "0000174359" "00019423" "90" "-691475" "0" "1159" "0" "c.(?_-691475)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174361" "00019423" "90" "-2108969" "0" "1159" "0" "c.(?_-2108969)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000174362" "00019423" "90" "-2108969" "0" "1159" "0" "c.(?_-2108969)_(*1_?)del" "r.0" "p.0" "_1_9_" "0000241259" "00019423" "70" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "" "0000254851" "00019423" "30" "438" "0" "438" "0" "c.438A>G" "r.(?)" "p.(Pro146=)" "" "0000255337" "00019423" "30" "500" "7" "500" "7" "c.500+7A>G" "r.(=)" "p.(=)" "" "0000255773" "00019423" "90" "363" "-2" "363" "-2" "c.363-2A>G" "r.spl?" "p.?" "" "0000255774" "00019423" "90" "796" "-2" "796" "-2" "c.796-2A>T" "r.spl?" "p.?" "" "0000298398" "00019423" "30" "628" "13" "628" "13" "c.628+13C>T" "r.(=)" "p.(=)" "" "0000298399" "00019423" "30" "987" "-16" "987" "-16" "c.987-16C>T" "r.(=)" "p.(=)" "" "0000299614" "00019423" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "" "0000299615" "00019423" "10" "362" "7" "362" "7" "c.362+7C>T" "r.(=)" "p.(=)" "" "0000299616" "00019423" "30" "582" "0" "582" "0" "c.582G>A" "r.(?)" "p.(Glu194=)" "" "0000299617" "00019423" "10" "628" "13" "628" "13" "c.628+13C>T" "r.(=)" "p.(=)" "" "0000308600" "00019423" "50" "-22" "0" "-22" "0" "c.-22G>C" "r.(?)" "p.(=)" "" "0000308601" "00019423" "50" "1196" "0" "1196" "0" "c.*38G>A" "r.(=)" "p.(=)" "" "0000308602" "00019423" "50" "1240" "0" "1240" "0" "c.*82C>T" "r.(=)" "p.(=)" "" "0000308603" "00019423" "10" "1256" "0" "1256" "0" "c.*98C>T" "r.(=)" "p.(=)" "" "0000308604" "00019423" "90" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "" "0000308605" "00019423" "50" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" "" "0000308606" "00019423" "90" "1153" "0" "1153" "0" "c.1153T>G" "r.(?)" "p.(Trp385Gly)" "" "0000308607" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Ter)" "" "0000308608" "00019423" "90" "218" "0" "219" "0" "c.218_219del" "r.(?)" "p.(Lys73ThrfsTer2)" "" "0000308609" "00019423" "90" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Phe10LeufsTer6)" "" "0000308610" "00019423" "90" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12Ter)" "" "0000308611" "00019423" "90" "363" "-9" "363" "-9" "c.363-9T>G" "r.(=)" "p.(=)" "" "0000308612" "00019423" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Ter)" "" "0000308613" "00019423" "30" "500" "24" "500" "24" "c.500+24C>G" "r.(=)" "p.(=)" "" "0000308614" "00019423" "10" "628" "13" "628" "13" "c.628+13C>T" "r.(=)" "p.(=)" "" "0000308615" "00019423" "90" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Trp281Ter)" "" "0000308616" "00019423" "10" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Ser299=)" "" "0000308619" "00019423" "10" "93" "119" "93" "120" "c.93+119_93+120del" "r.(=)" "p.(=)" "" "0000308620" "00019423" "10" "986" "57" "986" "58" "c.986+57_986+58dup" "r.(=)" "p.(=)" "" "0000328933" "00019423" "50" "-4839" "0" "-4839" "0" "c.-4839G>T" "r.(?)" "p.(=)" "" "0000328935" "00019423" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Trp)" "" "0000328936" "00019423" "50" "5916" "0" "5916" "0" "c.*4758G>C" "r.(=)" "p.(=)" "" "0000339752" "00019423" "10" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Ser299=)" "" "0000344073" "00019423" "70" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Asp369Glu)" "" "0000349818" "00019423" "90" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Trp51Ter)" "" "0000394677" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000394678" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394679" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394680" "00019423" "50" "105" "0" "105" "0" "c.105C>G" "r.(?)" "p.(Tyr35*)" "2" "0000394681" "00019423" "50" "442" "0" "449" "0" "c.442_449del" "r.(?)" "p.(Ser148Hisfs*19)" "4" "0000394682" "00019423" "50" "758" "0" "795" "660" "c.758_795+660del" "r.spl?" "p.?" "6" "0000394683" "00019423" "50" "778" "0" "778" "0" "c.778del" "r.(?)" "p.(Gln260Serfs*7)" "6" "0000394684" "00019423" "50" "902" "0" "902" "0" "c.902del" "r.(?)" "p.(Leu301Argfs*19)" "7" "0000394685" "00019423" "50" "363" "-1" "628" "1" "c.(362+1_363-1)_(628+1_629-1)del" "r.spl?" "p.?" "3i_5i" "0000394686" "00019423" "50" "859" "0" "859" "0" "c.859G>T" "r.(?)" "p.(Glu287*)" "7" "0000394687" "00019423" "50" "796" "0" "838" "0" "c.[796_838dup;838_839insT]" "r.(?)" "p.(Glu280Alafs*31)" "7" "0000394688" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000394689" "00019423" "50" "501" "-2" "501" "-2" "c.501-2A>G" "r.spl?" "p.?" "4i" "0000394690" "00019423" "50" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Glu31Asp)" "1" "0000394691" "00019423" "50" "110" "0" "110" "0" "c.110del" "r.(?)" "p.(Arg37Leufs*18)" "2" "0000394692" "00019423" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Ser66Leu)" "2" "0000394693" "00019423" "70" "351" "0" "351" "0" "c.351dup" "r.(?)" "p.(Thr118Hisfs*52)" "3" "0000394694" "00019423" "50" "995" "0" "995" "0" "c.995del" "r.(?)" "p.(Pro332Leufs*25)" "8" "0000394695" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000394696" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394697" "00019423" "50" "126" "0" "127" "0" "c.126_127insGCCA" "r.(?)" "p.(Leu43Alafs*29)" "2" "0000394698" "00019423" "50" "126" "0" "127" "0" "c.126_127insGCCA" "r.(?)" "p.(Leu43Alafs*29)" "2" "0000394699" "00019423" "50" "986" "1" "986" "1" "c.986+1G>C" "r.spl?" "p.?" "7i" "0000394700" "00019423" "50" "986" "1" "986" "1" "c.986+1G>C" "r.spl?" "p.?" "7i" "0000394701" "00019423" "50" "986" "1" "986" "1" "c.986+1G>C" "r.spl?" "p.?" "7i" "0000394702" "00019423" "50" "363" "-1" "628" "1" "c.(362+1_363-1)_(628+1_629-1)dup" "r.spl?" "p.?" "3i_5i" "0000394704" "00019423" "50" "363" "-1" "628" "1" "c.(362+1_363-1)_(628+1_629-1)dup" "r.spl?" "p.?" "3i_5i" "0000394705" "00019423" "50" "796" "-1" "986" "1" "c.(795+1_796-1)_(986+1_987-1)del" "r.spl?" "p.?" "6i_7i" "0000394706" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394707" "00019423" "50" "952" "0" "952" "0" "c.952dup" "r.(?)" "p.(Gln318Profs*43)" "7" "0000394708" "00019423" "50" "628" "1" "628" "1" "c.628+1G>A" "r.spl?" "p.?" "5i" "0000394709" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394710" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394711" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394712" "00019423" "50" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000394713" "00019423" "50" "430" "0" "430" "0" "c.430del" "r.(?)" "p.(Ala144Profs*32)" "4" "0000394715" "00019423" "50" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Gln198Argfs*11)" "5" "0000394716" "00019423" "50" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Gln198Argfs*11)" "5" "0000394717" "00019423" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Trp51*)" "2" "0000394718" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394719" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394720" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394721" "00019423" "50" "855" "0" "856" "0" "c.855_856del" "r.(?)" "p.(Lys286Glyfs*74)" "7" "0000394722" "00019423" "50" "986" "1" "986" "1" "c.986+1G>C" "r.spl?" "p.?" "7i" "0000394723" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394724" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394726" "00019423" "50" "-207" "0" "628" "1" "c.(?_-207)_(628+1_629-1)del" "r.?" "p.?" "1_5i" "0000394727" "00019423" "50" "363" "-1" "795" "1" "c.(362+1_363-1)_(795+1_796-1)del" "r.spl?" "p.?" "3i_6i" "0000394728" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)del" "r.spl?" "p.?" "5i_6i" "0000394729" "00019423" "50" "796" "-1" "986" "1" "c.(795+1_796-1)_(986+1_987-1)del" "r.spl?" "p.?" "6i_7i" "0000394730" "00019423" "50" "-207" "0" "93" "1" "c.(?_-207)_(93+1_94-1)del" "r.spl?" "p.?" "1" "0000394731" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)dup" "r.spl?" "p.?" "5i_6i" "0000394732" "00019423" "50" "20" "0" "43" "0" "c.20_43delinsT" "r.(?)" "p.(Ser7Ilefs*56)" "1" "0000394733" "00019423" "50" "170" "0" "171" "0" "c.170_171del" "r.(?)" "p.(Val57Glyfs*13)" "2" "0000394734" "00019423" "50" "316" "0" "316" "0" "c.316A>T" "r.(?)" "p.(Lys106*)" "3" "0000394735" "00019423" "50" "421" "0" "421" "0" "c.421dup" "r.(?)" "p.(His141Profs*29)" "4" "0000394737" "00019423" "50" "711" "0" "713" "0" "c.711_713delinsGATG" "r.(?)" "p.(Ile237Metfs*44)" "6" "0000394738" "00019423" "50" "387" "0" "387" "0" "c.387C>T" "r.(=)" "p.(=)" "4" "0000394739" "00019423" "50" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Trp51*)" "2" "0000394740" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394741" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394742" "00019423" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000394743" "00019423" "50" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Gln243*)" "6" "0000394744" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394745" "00019423" "50" "986" "2" "986" "2" "c.986+2T>A" "r.spl?" "p.?" "7i" "0000394746" "00019423" "50" "321" "0" "321" "0" "c.321C>G" "r.(?)" "p.(Tyr107*)" "3" "0000394748" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394749" "00019423" "50" "-207" "0" "93" "1" "c.(?_-207)_(93+1_94-1)del" "r.spl?" "p.?" "1" "0000394750" "00019423" "50" "496" "0" "496" "0" "c.496del" "r.(?)" "p.(Leu166Phefs*10)" "4" "0000394751" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394752" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394753" "00019423" "50" "170" "0" "171" "0" "c.170_171del" "r.(?)" "p.(Val57Glyfs*13)" "2" "0000394754" "00019423" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000394755" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394756" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394757" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394758" "00019423" "50" "245" "0" "246" "0" "c.245_246insAT" "r.(?)" "p.(Thr83*)" "3" "0000394759" "00019423" "50" "-207" "0" "1496" "0" "c.(?_-207)_(*338_?)del" "r.(?)" "p.?" "_1_9_" "0000394760" "00019423" "50" "245" "0" "246" "0" "c.245_246insAT" "r.(?)" "p.(Thr83*)" "3" "0000394761" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000394762" "00019423" "50" "93" "0" "93" "0" "c.93G>C" "r.(?)" "p.(Glu31Asp)" "1" "0000394763" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)del" "r.spl?" "p.?" "5i_6i" "0000394764" "00019423" "50" "430" "0" "430" "0" "c.430del" "r.(?)" "p.(Ala144Profs*32)" "4" "0000394765" "00019423" "50" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Gln198Argfs*11)" "5" "0000394766" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394767" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)dup" "r.spl?" "p.?" "5i_6i" "0000394768" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000394769" "00019423" "50" "1142" "0" "1142" "0" "c.1142C>G" "r.(?)" "p.(Thr381Arg)" "9" "0000394770" "00019423" "50" "479" "0" "479" "0" "c.479del" "r.(?)" "p.(Lys160Argfs*16)" "4" "0000394835" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394836" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394847" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394848" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394849" "00019423" "50" "233" "-1" "233" "-1" "c.233-1G>A" "r.spl?" "p.?" "2i" "0000394850" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000394856" "00019423" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000394857" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394858" "00019423" "50" "-207" "0" "628" "1" "c.(?_-207)_(628+1_629-1)del" "r.?" "p.?" "1_5i" "0000394859" "00019423" "50" "-207" "0" "232" "1" "c.(?_-207)_(232+1_233-1)del" "r.?" "p.?" "1_2i" "0000394860" "00019423" "50" "233" "-249" "348" "0" "c.233-249_348del" "r.spl?" "p.?" "2i_3" "0000394861" "00019423" "50" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40*)" "2" "0000394862" "00019423" "50" "952" "0" "952" "0" "c.952dup" "r.(?)" "p.(Gln318Profs*43)" "7" "0000394863" "00019423" "50" "122" "0" "122" "0" "c.122dup" "r.(?)" "p.(Ser42Phefs*29)" "2" "0000394864" "00019423" "50" "747" "0" "747" "0" "c.747dup" "r.(?)" "p.(Thr250Hisfs*31)" "6" "0000394865" "00019423" "50" "94" "-1" "232" "1" "c.(93+1_94-1)_(232+1_233-1)del" "r.spl?" "p.?" "1i_2i" "0000394866" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394867" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394869" "00019423" "50" "628" "1" "628" "1" "c.628+1G>A" "r.spl?" "p.?" "5i" "0000394870" "00019423" "50" "978" "0" "978" "0" "c.978C>A" "r.(?)" "p.(Tyr326*)" "7" "0000394871" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394872" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394873" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394874" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394875" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394943" "00019423" "50" "796" "-1" "986" "1" "c.(795+1_796-1)_(986+1_987-1)del" "r.spl?" "p.?" "6i_7i" "0000394944" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394945" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)dup" "r.spl?" "p.?" "5i_6i" "0000394946" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)dup" "r.spl?" "p.?" "5i_6i" "0000394947" "00019423" "50" "629" "-1" "795" "1" "c.(628+1_629-1)_(795+1_796-1)dup" "r.spl?" "p.?" "5i_6i" "0000394949" "00019423" "50" "126" "0" "127" "0" "c.126_127insGCCA" "r.(?)" "p.(Leu43Alafs*29)" "2" "0000394950" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000394951" "00019423" "50" "245" "0" "246" "0" "c.245_246insAT" "r.(?)" "p.(Thr83*)" "3" "0000394952" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394953" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394954" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000394955" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394956" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000394957" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000394958" "00019423" "50" "795" "1" "795" "1" "c.795+1G>T" "r.spl?" "p.?" "6i" "0000394960" "00019423" "50" "986" "1" "986" "1" "c.986+1G>C" "r.spl?" "p.?" "7i" "0000394961" "00019423" "50" "628" "1" "628" "1" "c.628+1G>A" "r.spl?" "p.?" "5i" "0000394975" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394976" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394977" "00019423" "50" "-207" "0" "1496" "0" "c.(?_-207)_(*338_?)del" "r.(?)" "p.?" "_1_9_" "0000394978" "00019423" "50" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Tyr47*)" "2" "0000394979" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394981" "00019423" "50" "363" "-1" "628" "1" "c.(362+1_363-1)_(628+1_629-1)del" "r.spl?" "p.?" "3i_5i" "0000394982" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394983" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394984" "00019423" "50" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53*)" "2" "0000394985" "00019423" "50" "890" "0" "896" "0" "c.890_896del" "r.(?)" "p.(Leu297Argfs*21)" "7" "0000394986" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394987" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394988" "00019423" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201*)" "5" "0000394989" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394990" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394991" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000394992" "00019423" "50" "629" "-1" "986" "1" "c.(628+1_629-1)_(986+1_987-1)dup" "r.spl?" "p.?" "5i_7i" "0000394993" "00019423" "50" "796" "-1" "1496" "0" "c.(795+1_796-1)_(*338_?)del" "r.spl?" "p.?" "6i_9" "0000394994" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394995" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394997" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000394998" "00019423" "50" "98" "0" "98" "0" "c.98dup" "r.(?)" "p.(Asn34Lysfs*37)" "2" "0000394999" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000395000" "00019423" "50" "-207" "0" "1496" "0" "c.(?_-207)_(*338_?)del" "r.(?)" "p.?" "_1_9_" "0000395001" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000395002" "00019423" "50" "197" "0" "197" "0" "c.197C>A" "r.(?)" "p.(Ser66*)" "2" "0000395003" "00019423" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Gln198*)" "5" "0000395004" "00019423" "50" "-207" "0" "1496" "0" "c.(?_-207)_(*338_?)del" "r.(?)" "p.?" "_1_9_" "0000395006" "00019423" "50" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Ile189Serfs*20)" "5" "0000395007" "00019423" "50" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Leu254Profs*27)" "6" "0000395008" "00019423" "50" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Gln198*)" "5" "0000395009" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000395010" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000395011" "00019423" "50" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Leu266Argfs*30)" "7" "0000395012" "00019423" "50" "144" "0" "144" "0" "c.144dup" "r.(?)" "p.(Ser49Leufs*22)" "2" "0000395013" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000395014" "00019423" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000395015" "00019423" "50" "-207" "0" "1496" "0" "c.(?_-207)_(*338_?)del" "r.(?)" "p.?" "_1_9_" "0000395016" "00019423" "50" "617" "0" "617" "0" "c.617G>A" "r.(?)" "p.(Trp206*)" "5" "0000395043" "00019423" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "1" "0000395044" "00019423" "50" "233" "-2" "237" "0" "c.233-2_237del" "r.spl?" "p.?" "2i_3" "0000395045" "00019423" "50" "233" "-2" "237" "0" "c.233-2_237del" "r.spl?" "p.?" "2i_3" "0000395046" "00019423" "50" "233" "-2" "237" "0" "c.233-2_237del" "r.spl?" "p.?" "2i_3" "0000395047" "00019423" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131*)" "4" "0000395048" "00019423" "50" "392" "0" "392" "0" "c.392G>A" "r.(?)" "p.(Trp131*)" "4" "0000395049" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395050" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395051" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395052" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395053" "00019423" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "1" "0000395054" "00019423" "50" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Asn288Lys)" "7" "0000395056" "00019423" "50" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Asn288Lys)" "7" "0000395058" "00019423" "50" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Asn288Lys)" "7" "0000395060" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000395061" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000395062" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000395063" "00019423" "50" "629" "-361" "795" "2103" "c.629-361_795+2103dup" "r.?" "p.?" "5i_6i" "0000395064" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395065" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395066" "00019423" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" "2" "0000395067" "00019423" "50" "362" "1" "362" "1" "c.362+1G>A" "r.spl?" "p.?" "3i" "0000395068" "00019423" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" "2" "0000395069" "00019423" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" "2" "0000395070" "00019423" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" "2" "0000395071" "00019423" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" "2" "0000395072" "00019423" "50" "362" "1" "362" "1" "c.362+1G>A" "r.spl?" "p.?" "3i" "0000395073" "00019423" "50" "362" "1" "362" "1" "c.362+1G>A" "r.spl?" "p.?" "3i" "0000395074" "00019423" "50" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122*)" "4" "0000395075" "00019423" "50" "364" "0" "364" "0" "c.364G>T" "r.(?)" "p.(Glu122*)" "4" "0000395076" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000395077" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000395078" "00019423" "50" "362" "1" "362" "1" "c.362+1G>A" "r.spl?" "p.?" "3i" "0000395079" "00019423" "50" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "4i" "0000395080" "00019423" "50" "795" "1" "795" "1" "c.795+1G>T" "r.spl?" "p.?" "6i" "0000395081" "00019423" "50" "245" "0" "246" "0" "c.245_246insAT" "r.(?)" "p.(Thr83*)" "3" "0000395082" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000395083" "00019423" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158*)" "4" "0000395084" "00019423" "50" "46" "0" "46" "0" "c.46A>T" "r.(?)" "p.(Lys16*)" "1" "0000395085" "00019423" "50" "1106" "0" "1106" "0" "c.1106A>T" "r.(?)" "p.(Asp369Val)" "8" "0000395086" "00019423" "50" "86" "0" "91" "0" "c.86_91del" "r.(?)" "p.(Gly29_Ser30del)" "1" "0000395087" "00019423" "50" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "1" "0000395088" "00019423" "50" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Pro14His)" "1" "0000395089" "00019423" "50" "1118" "1" "1118" "1" "c.1118+1G>A" "r.spl?" "p.?" "8i" "0000395090" "00019423" "50" "203" "0" "216" "0" "c.203_216delinsTACC" "r.(?)" "p.(His68Leufs*14)" "2" "0000395091" "00019423" "50" "86" "0" "91" "0" "c.86_91del" "r.(?)" "p.(Gly29_Ser30del)" "1" "0000395092" "00019423" "50" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Phe10Leufs*6)" "1" "0000395093" "00019423" "50" "971" "0" "978" "0" "c.971_978delinsTGCTACCT" "r.(?)" "p.(Lys324_Tyr326delinsMetLeuPro)" "7" "0000395094" "00019423" "50" "1021" "0" "1021" "0" "c.1021del" "r.(?)" "p.(Arg341Glyfs*16)" "8" "0000395095" "00019423" "50" "86" "0" "91" "0" "c.86_91del" "r.(?)" "p.(Gly29_Ser30del)" "1" "0000395096" "00019423" "50" "1000" "0" "1001" "0" "c.1000_1001insG" "r.(?)" "p.(Pro334Argfs*27)" "8" "0000395097" "00019423" "50" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Pro14Ser)" "1" "0000395098" "00019423" "50" "796" "-2246" "986" "5250" "c.796-2246_986+5250dup" "r.spl?" "p.?" "6i_7i" "0000395099" "00019423" "50" "1118" "1" "1118" "1" "c.1118+1G>A" "r.spl?" "p.?" "8i" "0000395100" "00019423" "50" "1118" "1" "1118" "1" "c.1118+1G>A" "r.spl?" "p.?" "8i" "0000395101" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395102" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395103" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395104" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395105" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395106" "00019423" "50" "1240" "0" "1240" "0" "c.1240C>T" "r.(=)" "p.(=)" "9" "0000395107" "00019423" "50" "38" "0" "38" "0" "c.38del" "r.(?)" "p.(Lys13Serfs*3)" "1" "0000395108" "00019423" "50" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "9" "0000395109" "00019423" "50" "1240" "0" "1240" "0" "c.*82C>T" "r.(=)" "p.(=)" "9" "0000395110" "00019423" "50" "207" "0" "208" "0" "c.207_208dup" "r.(?)" "p.(Lys70Ilefs*16)" "2" "0000395111" "00019423" "50" "1240" "0" "1240" "0" "c.*82C>T" "r.(=)" "p.(=)" "9" "0000395112" "00019423" "50" "1240" "0" "1240" "0" "c.*82C>T" "r.(=)" "p.(=)" "9" "0000395113" "00019423" "50" "207" "0" "208" "0" "c.207_208dup" "r.(?)" "p.(Lys70Ilefs*16)" "2" "0000395114" "00019423" "50" "233" "-1" "233" "-1" "c.233-1G>A" "r.spl?" "p.?" "2i" "0000395115" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395116" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395117" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395118" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395119" "00019423" "50" "207" "0" "208" "0" "c.207_208dup" "r.(?)" "p.(Lys70Ilefs*16)" "2" "0000395120" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000395121" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000395122" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000395123" "00019423" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Glu31Val)" "1" "0000395124" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395125" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395126" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395127" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395128" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395129" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395130" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000395131" "00019423" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Pro48Leu)" "2" "0000398474" "00019423" "50" "629" "-2" "629" "-2" "c.629-2A>G" "r.spl?" "p.?" "5i" "0000400768" "00019423" "50" "669" "0" "670" "0" "c.669_670del" "r.(?)" "p.(Cys223*)" "6" "0000400772" "00019423" "50" "578" "0" "585" "0" "c.578_585dup" "r.(?)" "p.(Asp196Trpfs*16)" "5" "0000438819" "00019423" "50" "84" "0" "84" "0" "c.84C>G" "r.(?)" "p.Ile28Met" "" "0000571554" "00019423" "10" "93" "117" "93" "120" "c.93+117_93+120dup" "r.(=)" "p.(=)" "" "0000571555" "00019423" "10" "93" "118" "93" "119" "c.93+118_93+119insTC" "r.(=)" "p.(=)" "" "0000571556" "00019423" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Asp104Asn)" "" "0000571557" "00019423" "90" "500" "1" "500" "1" "c.500+1G>A" "r.spl?" "p.?" "" "0000571558" "00019423" "90" "550" "0" "550" "0" "c.550G>T" "r.(?)" "p.(Glu184Ter)" "" "0000571560" "00019423" "50" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Leu301Pro)" "" "0000571561" "00019423" "10" "1274" "0" "1274" "0" "c.*116dup" "r.(?)" "p.(=)" "" "0000571562" "00019423" "30" "3857" "0" "3857" "0" "c.*2699G>A" "r.(=)" "p.(=)" "" "0000599120" "00019423" "10" "897" "0" "897" "0" "c.897G>A" "r.(?)" "p.(Ser299=)" "7" "0000618499" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000618500" "00019423" "90" "1240" "0" "1240" "0" "c.*82C>T" "r.(=)" "p.(=)" "" "0000650929" "00019423" "50" "500" "305" "500" "305" "c.500+305C>A" "r.(=)" "p.(=)" "" "0000658905" "00019423" "30" "501" "-23" "501" "-23" "c.501-23T>G" "r.(=)" "p.(=)" "" "0000669709" "00019423" "50" "500" "305" "500" "305" "c.500+305C>A" "r.(=)" "p.(=)" "" "0000682746" "00019423" "70" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Trp349*)" "" "0000698364" "00019423" "50" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Glu216Lys)" "6" "0000839294" "00019423" "30" "796" "-61" "796" "-61" "c.796-61C>T" "r.?" "p.(=)" "" "0000856074" "00019423" "90" "796" "-1" "796" "-1" "c.796-1G>A" "r.spl?" "p.?" "" "0000856075" "00019423" "30" "1204" "0" "1204" "0" "c.*46G>A" "r.(=)" "p.(=)" "" "0000866742" "00019423" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "" "0000866743" "00019423" "30" "1915" "0" "1915" "0" "c.*757G>A" "r.(=)" "p.(=)" "" "0000877217" "00019423" "90" "1113" "0" "1113" "0" "c.1113C>G" "r.(?)" "p.(Asn371Lys)" "" "0000895612" "00019423" "50" "55" "0" "55" "0" "c.55C>A" "r.(?)" "p.(Leu19Met)" "" "0000895613" "00019423" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Ter)" "" "0000895614" "00019423" "50" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Val262Ile)" "" "0000895615" "00019423" "30" "978" "0" "978" "0" "c.978C>T" "r.(?)" "p.(Tyr326=)" "" "0000922605" "00019423" "90" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "2" "0000922606" "00019423" "90" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "2" "0000922607" "00019423" "90" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "2" "0000922608" "00019423" "70" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Gly271Glu)" "7" "0000922609" "00019423" "50" "1089" "0" "1089" "0" "c.1089G>T" "r.(?)" "p.(Lys363Asn)" "8" "0000922610" "00019423" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "9" "0000922611" "00019423" "90" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374Gln)" "9" "0000927118" "00019423" "30" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Met4Val)" "" "0000927119" "00019423" "90" "500" "5" "500" "5" "c.500+5G>T" "r.spl?" "p.?" "" "0000927449" "00019423" "90" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Arg376Lys)" "" "0000944606" "00019423" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Ile)" "" "0000944607" "00019423" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Ile)" "" "0000944608" "00019423" "90" "1089" "0" "1089" "0" "c.1089G>T" "r.(?)" "p.(Lys363Asn)" "" "0000944609" "00019423" "90" "1091" "0" "1093" "0" "c.1091_1093del" "r.(?)" "p.(Lys364del)" "" "0000944610" "00019423" "90" "1107" "0" "1107" "0" "c.1107C>G" "r.(?)" "p.(Asp369Glu)" "" "0000944611" "00019423" "90" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377His)" "" "0000951552" "00019423" "50" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Trp)" "" "0000970407" "00019423" "50" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37Cys)" "" "0000984136" "00019423" "30" "500" "24" "500" "24" "c.500+24C>G" "r.(=)" "p.(=)" "" "0000984137" "00019423" "30" "986" "6" "986" "6" "c.986+6A>T" "r.(=)" "p.(=)" "" "0000984138" "00019423" "50" "4690" "0" "4690" "0" "c.*3532G>A" "r.(=)" "p.(=)" "" "0000989510" "00019423" "70" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Arg37His)" "" "0001005949" "00019423" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Thr214Met)" "" "0001022206" "00019423" "50" "500" "7" "500" "7" "c.500+7A>G" "r.[500_501insGT,=]" "p.Cys167TrpfsTer2" "4i" "0001027376" "00019423" "30" "500" "24" "500" "24" "c.500+24C>G" "r.(=)" "p.(=)" "" "0001027377" "00019423" "50" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341Trp)" "" "0001043754" "00019423" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(=)" "" "0001046807" "00019423" "90" "509" "0" "512" "0" "c.509_512dup" "r.(?)" "p.(His171Glnfs*3)" "" "0001048204" "00019423" "30" "500" "58" "500" "58" "c.500+58C>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 366 "{{screeningid}}" "{{variantid}}" "0000001274" "0000018961" "0000001274" "0000018970" "0000001275" "0000018694" "0000001275" "0000018971" "0000001282" "0000018695" "0000001282" "0000018962" "0000001282" "0000018972" "0000001285" "0000018968" "0000001292" "0000018963" "0000001292" "0000018973" "0000001293" "0000018964" "0000001293" "0000018974" "0000001297" "0000018975" "0000001300" "0000018696" "0000001300" "0000018976" "0000001303" "0000018966" "0000001303" "0000018977" "0000001306" "0000018690" "0000001310" "0000018969" "0000001312" "0000018978" "0000001313" "0000018979" "0000001317" "0000018967" "0000001317" "0000018980" "0000037224" "0000064349" "0000037225" "0000064350" "0000037226" "0000064351" "0000037227" "0000064352" "0000037228" "0000064353" "0000048148" "0000076969" "0000048149" "0000076970" "0000048150" "0000076971" "0000048151" "0000076972" "0000048152" "0000076973" "0000048153" "0000076974" "0000048154" "0000076975" "0000048155" "0000076976" "0000048156" "0000076977" "0000050562" "0000079542" "0000105036" "0000170281" "0000108206" "0000174340" "0000108207" "0000174104" "0000108208" "0000174105" "0000108209" "0000174106" "0000108210" "0000174107" "0000108211" "0000174108" "0000108212" "0000174109" "0000108213" "0000174110" "0000108214" "0000174111" "0000108215" "0000174112" "0000108216" "0000174113" "0000108217" "0000174114" "0000108218" "0000174115" "0000108219" "0000174116" "0000108220" "0000174117" "0000108221" "0000174118" "0000108222" "0000174119" "0000108223" "0000174120" "0000108224" "0000174121" "0000108225" "0000174122" "0000108225" "0000174123" "0000108226" "0000174124" "0000108227" "0000174125" "0000108282" "0000174186" "0000108283" "0000174342" "0000108284" "0000174343" "0000108285" "0000174354" "0000108286" "0000174359" "0000108287" "0000174361" "0000108288" "0000174344" "0000108289" "0000174345" "0000108290" "0000174355" "0000108291" "0000174356" "0000108292" "0000174358" "0000108293" "0000174346" "0000108294" "0000174347" "0000108295" "0000174348" "0000108296" "0000174349" "0000108297" "0000174350" "0000108298" "0000174351" "0000108299" "0000174362" "0000108300" "0000174341" "0000108301" "0000174352" "0000108302" "0000174353" "0000147978" "0000241259" "0000174810" "0000394677" "0000174811" "0000394678" "0000174812" "0000394679" "0000174813" "0000394680" "0000174814" "0000394681" "0000174815" "0000394682" "0000174816" "0000394683" "0000174817" "0000394684" "0000174818" "0000394685" "0000174819" "0000394686" "0000174820" "0000394687" "0000174821" "0000394688" "0000174822" "0000394689" "0000174823" "0000394690" "0000174824" "0000394691" "0000174825" "0000394692" "0000174826" "0000394693" "0000174827" "0000394694" "0000174828" "0000394695" "0000174829" "0000394696" "0000174830" "0000394697" "0000174831" "0000394698" "0000174832" "0000394699" "0000174833" "0000394700" "0000174834" "0000394701" "0000174835" "0000394702" "0000174837" 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