### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SATB2) # 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}}" "SATB2" "SATB homeobox 2" "2" "q33.1" "unknown" "NG_016976.1" "UD_132118513672" "" "https://www.LOVD.nl/SATB2" "" "1" "21637" "23314" "608148" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) 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/SATB2_codingDNA.html" "1" "" "" "0" "" "0" "00002" "2012-05-01 00:00:00" "00006" "2016-12-13 08:40:59" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000163" "SATB2" "SATB homeobox 2" "003" "NM_001172509.1" "" "NP_056080.1" "" "" "" "-817" "4913" "2202" "200322819" "200134223" "00002" "2012-05-11 13:12:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00793" "CPI;CPO" "cleft palate, isolated (CPI, cleft palate only (CPO))" "" "119540" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-02-19 14:48:16" "03120" "GLASS" "Glass syndrome (GLASS, chromosome 2q32-q33 deletion syndrome)" "AD" "612313" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "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 = 3 "{{geneid}}" "{{diseaseid}}" "SATB2" "00139" "SATB2" "00793" "SATB2" "03120" ## Individuals ## Do not remove or alter this header ## ## Count = 143 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00019888" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00050432" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050482" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050503" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050517" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050584" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050619" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050661" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080915" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00091679" "" "" "" "1" "" "01847" "" "Family, 1 affected" "F" "no" "Germany" "" "0" "" "" "white" "" "00091684" "" "" "" "1" "" "01847" "" "family, 1 affected" "M" "no" "United States" "" "0" "" "" "white, hispanic" "" "00091685" "" "" "" "1" "" "01847" "" "family, 1 affected" "M" "no" "United States" "" "0" "" "" "white" "" "00091686" "" "" "" "1" "" "01847" "" "Family, 1 affected" "M" "no" "Spain" "" "0" "" "" "white" "" "00091687" "" "" "" "1" "" "01847" "" "Family, 1 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00091688" "" "" "" "1" "" "01847" "" "Family, 1 affected" "M" "no" "United States" "" "0" "" "" "white" "" "00091689" "" "" "" "1" "" "01847" "" "1 affected" "M" "no" "Australia" "" "0" "" "" "white" "" "00204582" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-114" "00204583" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-121" "00204584" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-89" "00204585" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-83" "00204586" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-91" "00205391" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-127" "00205392" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-97" "00205393" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-106" "00205394" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-108" "00205395" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-124" "00205396" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-68" "00205397" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-133" "00205398" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-131" "00205422" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-84" "00205423" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-122" "00205424" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-100" "00205447" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-132" "00205448" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-104" "00205449" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-110" "00205450" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-112" "00205486" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-94" "00205487" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-129" "00205488" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-125" "00205489" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-96" "00205490" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-105" "00205491" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-111" "00205516" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-101" "00205517" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-109" "00205518" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-116" "00205519" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-130" "00205545" "" "" "" "1" "" "01847" "" "" "" "" "" "" "0" "" "" "" "SATB2-88" "00205847" "" "" "" "1" "" "01847" "" "" "M" "" "" "" "0" "" "" "" "SATB2-90" "00205848" "" "" "" "1" "" "01847" "" "" "M" "" "" "" "0" "" "" "" "SATB2-123" "00205849" "" "" "" "1" "" "01847" "" "" "F" "" "" "" "0" "" "" "" "SATB2-119" "00205850" "" "" "" "1" "" "01847" "" "" "F" "" "" "" "0" "" "" "" "SATB2-98" "00205851" "" "" "" "1" "" "01847" "" "" "F" "" "" "" "0" "" "" "" "SATB2-103" "00205852" "" "" "" "1" "" "01847" "" "" "F" "" "" "" "0" "" "" "" "SATB2-120" "00205853" "" "" "" "1" "" "01847" "" "" "M" "" "" "" "0" "" "" "" "SATB2-81" "00205854" "" "" "" "1" "" "01847" "" "" "M" "" "" "" "0" "" "" "" "SATB2-95" "00207015" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat01" "00207016" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat02" "00207017" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat03" "00207018" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat04" "00207019" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat05" "00207020" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat06" "00207021" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat07" "00207022" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat08" "00207023" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat10" "00207024" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat11" "00207025" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat12" "00207026" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat13" "00207027" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat14" "00207028" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat16" "00207029" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat17" "00207030" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat18" "00207031" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat19" "00207032" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat20" "00207033" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat21" "00207034" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat22" "00207035" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat23" "00207036" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat24" "00207037" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat25" "00207038" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat26" "00207039" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat27" "00207040" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat28" "00207041" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat29" "00207042" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat30" "00207043" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat31" "00207044" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat32" "00207045" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat33" "00207046" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat34" "00207047" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat35" "00207048" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat36" "00207049" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat37" "00207050" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat38" "00207051" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat39" "00207052" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat40" "00207053" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat41" "00207054" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat42" "00207055" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat43" "00207056" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat44" "00207057" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat45" "00207058" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat46" "00207059" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat47" "00207060" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat48" "00207061" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat49" "00207062" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat50" "00207063" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat51" "00207064" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat52" "00207065" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat53" "00207066" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat54" "00207067" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat55" "00207068" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat56" "00207069" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat57" "00207070" "" "" "" "1" "" "00006" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat58" "00207071" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat59" "00207072" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat60" "00207073" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat62" "00207074" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat64" "00207075" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat65" "00207076" "" "" "" "1" "" "00006" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat67" "00207077" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat69" "00207078" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat70" "00207079" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat71" "00207080" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat72" "00207081" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat74" "00207082" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat75" "00207083" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat76" "00207084" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat77" "00207085" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "F" "" "" "" "0" "" "" "" "29436146-Pat78" "00207086" "" "" "" "1" "" "00006" "{PMID:Zarate 2018:29436146}" "" "M" "" "" "" "0" "" "" "" "29436146-Pat79" "00229778" "" "" "" "1" "" "01847" "" "" "M" "no" "" "03y" "0" "" "" "" "SATB2-139" "00229780" "" "" "" "3" "" "01847" "" "" "M" "" "" "12y" "0" "" "" "" "SATB2-117" "00229781" "" "" "" "3" "" "01847" "" "" "M" "no" "" "" "0" "" "" "" "SATB2-136" "00229782" "" "" "" "1" "" "01847" "" "" "M" "no" "" "" "0" "" "" "" "SATB2-137" "00229783" "" "" "" "3" "" "01847" "" "" "F" "no" "" "" "0" "" "" "" "SATB2-138" "00229784" "" "" "" "1" "" "01847" "" "" "F" "no" "" "" "0" "" "" "" "SATB2-134" "00229785" "" "" "" "1" "" "01847" "" "" "F" "no" "" "" "0" "" "" "" "SATB2-142" "00229786" "" "" "" "3" "" "01847" "" "" "M" "" "" "" "0" "" "" "" "SATB2-135" "00229797" "" "" "" "3" "" "01847" "{PMID:Yamada 2019:30848049}" "" "F" "" "Japan" "" "0" "" "" "" "Patient 1" "00229798" "" "" "" "2" "" "01847" "{PMID:Yamada 2019:30848049}" "" "F" "" "Japan" "" "0" "" "" "" "Patient 2" "00292529" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00311041" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00391497" "" "" "" "1" "" "01164" "" "" "M" "no" "Hungary" "" "0" "" "" "" "187105" "00457923" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "0" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 143 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00019888" "00139" "00050432" "00198" "00050482" "00198" "00050503" "00198" "00050517" "00198" "00050584" "00198" "00050619" "00198" "00050661" "00198" "00080915" "03120" "00091679" "03120" "00091684" "03120" "00091685" "03120" "00091686" "03120" "00091687" "03120" "00091688" "03120" "00091689" "03120" "00204582" "03120" "00204584" "03120" "00204585" "03120" "00204586" "03120" "00205391" "03120" "00205392" "03120" "00205393" "03120" "00205394" "03120" "00205395" "03120" "00205396" "03120" "00205397" "03120" "00205398" "03120" "00205422" "03120" "00205423" "03120" "00205424" "03120" "00205447" "03120" "00205448" "03120" "00205449" "03120" "00205450" "03120" "00205486" "03120" "00205487" "03120" "00205488" "03120" "00205489" "03120" "00205490" "03120" "00205491" "03120" "00205516" "03120" "00205517" "03120" "00205518" "03120" "00205519" "03120" "00205545" "03120" "00205847" "03120" "00205848" "03120" "00205849" "03120" "00205850" "03120" "00205851" "03120" "00205852" "03120" "00205853" "03120" "00205854" "03120" "00207015" "00198" "00207016" "00198" "00207017" "00198" "00207018" "00198" "00207019" "00198" "00207020" "00198" "00207021" "00198" "00207022" "00198" "00207023" "00198" "00207024" "00198" "00207025" "00198" "00207026" "00198" "00207027" "00198" "00207028" "00198" "00207029" "00198" "00207030" "00198" "00207031" "00198" "00207032" "00198" "00207033" "00198" "00207034" "00198" "00207035" "00198" "00207036" "00198" "00207037" "00198" "00207038" "00198" "00207039" "00198" "00207040" "00198" "00207041" "00198" "00207042" "00198" "00207043" "00198" "00207044" "00198" "00207045" "00198" "00207046" "00198" "00207047" "00198" "00207048" "00198" "00207049" "00198" "00207050" "00198" "00207051" "00198" "00207052" "00198" "00207053" "00198" "00207054" "00198" "00207055" "00198" "00207056" "00198" "00207057" "00198" "00207058" "00198" "00207059" "00198" "00207060" "00198" "00207061" "00198" "00207062" "00198" "00207063" "00198" "00207064" "00198" "00207065" "00198" "00207066" "00198" "00207067" "00198" "00207068" "00198" "00207069" "00198" "00207070" "00198" "00207071" "00198" "00207072" "00198" "00207073" "00198" "00207074" "00198" "00207075" "00198" "00207076" "00198" "00207077" "00198" "00207078" "00198" "00207079" "00198" "00207080" "00198" "00207081" "00198" "00207082" "00198" "00207083" "00198" "00207084" "00198" "00207085" "00198" "00207086" "00198" "00229778" "03120" "00229780" "03120" "00229781" "03120" "00229782" "03120" "00229783" "03120" "00229784" "03120" "00229785" "03120" "00229786" "03120" "00229797" "03120" "00229798" "03120" "00292529" "00198" "00311041" "00198" "00391497" "03120" "00457923" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 00793, 03120, 05330, 05378, 05611 ## Count = 138 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000017610" "00139" "00019888" "00705" "Unknown" "" "moderate-severe ID, primary macrocephaly, hearing loss due to otitis media. Strabismus. Autism, ADHD. Frontal bossing, deep-set eyes. Four teeth at 11 months of age." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037044" "00198" "00050432" "00006" "Isolated (sporadic)" "" "specific learning disability, delayed speech and language development, cleft palate, chin dimple, clinodactyly of the 5th finger, thin lips, broad thumb" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037094" "00198" "00050482" "00006" "Isolated (sporadic)" "" "long face, frontal bossing, abnormality of limb bone morphology, dental crowding, abnormality of the palmar creases, joint hypermobility, pectus excavatum, delayed speech and language development, cleft palate, pes planus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037115" "00198" "00050503" "00006" "Isolated (sporadic)" "" "global developmental delay, absent speech, muscular hypotonia, ligamentous laxity, drooling, exaggerated startle response, deeply set eye, downslanted palpebral fissures, thin lips, smooth philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037129" "00198" "00050517" "00006" "Unknown" "" "cleft palate, intellectual disability severe, hypotelorism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037196" "00198" "00050584" "00006" "Isolated (sporadic)" "" "cleft palate, delayed speech and language development, abnormality of the tibia, myopia, joint hypermobility, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037231" "00198" "00050619" "00006" "Isolated (sporadic)" "" "seizures, delayed speech and language development, frontal bossing, deeply set eye, abnormal hair pattern, strabismus, smooth philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037273" "00198" "00050661" "00006" "Isolated (sporadic)" "" "short tapered metacarpals, broad thumb, bilateral single transverse palmar creases, strabismus, drooling, ankyloglossia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060484" "03120" "00080915" "01758" "Isolated (sporadic)" "" "Glass syndrome (OMIM:612313)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000070132" "03120" "00091679" "01847" "Isolated (sporadic)" "04y" "global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482)" "<01y" "" "" "4" "" "" "" "" "" "" "" "" "" "" "" "" "0000070152" "03120" "00091684" "01847" "Isolated (sporadic)" "03y" "global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482)\r\npoor speech development (HP:0000750)" "<01y" "" "" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "0000070153" "03120" "00091685" "01847" "Isolated (sporadic)" "11y" "global developmental delay, HP:0001263; cleft palate, HP:0000175; absent speech, HP:0001344; dysmorphic facial features; micrognathia, HP:0000347; abnormality of dental morphology, HP:0006482" "<01y" "" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "0000070154" "03120" "00091686" "01847" "Isolated (sporadic)" "05y" "" "<01y" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0000070155" "03120" "00091687" "01847" "Isolated (sporadic)" "05y" "global developmental delay (HP:0001263), cleft palate (HP:0000175), absent speech (HP:0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482)" "<01y" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0000070156" "03120" "00091688" "01847" "Isolated (sporadic)" "13y" "global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482), poor speech development (HP:0000750)" "<01y" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000070157" "03120" "00091689" "01847" "Unknown" "06y" "global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482)\r\npoor speech development (HP:0000750)" "<01y" "" "" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "0000154811" "00198" "00207015" "00006" "Isolated (sporadic)" "3y" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 21m; speak 1st words 16m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154812" "00198" "00207016" "00006" "Isolated (sporadic)" "6y" "no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 21m; speak 1st words 27m" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154813" "00198" "00207017" "00006" "Isolated (sporadic)" "8y" "cleft palate (HP:0000175); MRI brain abnormal; walks 48m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154814" "00198" "00207018" "00006" "Isolated (sporadic)" "4y" "no cleft palate (-HP:0000175); walks 11m; speak 1st words 14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154815" "00198" "00207019" "00006" "Isolated (sporadic)" "5y" "no cleft palate (-HP:0000175); MRI brain normal; walks 22m; speak 1st words 42m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154816" "00198" "00207020" "00006" "Isolated (sporadic)" "8y" "cleft palate (HP:0000175); MRI brain abnormal; walks 20m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154817" "00198" "00207021" "00006" "Isolated (sporadic)" "7y" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 26m; speak 1st words 14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154818" "00198" "00207022" "00006" "Isolated (sporadic)" "2y" "no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175)" "" "" "" "21d" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154819" "00198" "00207023" "00006" "Isolated (sporadic)" "14y" "no cleft palate (-HP:0000175); 13y slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); ; MRI brain abnormal; walks 22m; speak 1st words 13m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154820" "00198" "00207024" "00006" "Isolated (sporadic)" "3y" "no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 15m" "" "" "" "1y6m" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154821" "00198" "00207025" "00006" "Isolated (sporadic)" "13y" "no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 20m; speak 1st words 10m" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154822" "00198" "00207026" "00006" "Isolated (sporadic)" "6y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 24m" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154823" "00198" "00207027" "00006" "Isolated (sporadic)" "15y" "no cleft palate (-HP:0000175); MRI brain normal; walks 22m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154824" "00198" "00207028" "00006" "Isolated (sporadic)" "6y" "cleft palate (HP:0000175); 6y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); 1 fracture (HP:0002757); walks 35m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154825" "00198" "00207029" "00006" "Isolated (sporadic)" "8y" "growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 18m; speak 1st words 30m" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154826" "00198" "00207030" "00006" "Isolated (sporadic)" "8y" "no cleft palate (-HP:0000175); MRI brain normal; walks 18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154827" "00198" "00207031" "00006" "Isolated (sporadic)" "18y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 30m" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154828" "00198" "00207032" "00006" "Isolated (sporadic)" "6y" "cleft palate (HP:0000175); MRI brain normal; walks 24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154829" "00198" "00207033" "00006" "Isolated (sporadic)" "6y" "growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 17m; speak 1st words 36m" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154830" "00198" "00207034" "00006" "Isolated (sporadic)" "14y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); 14y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); 3 fractures (HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 22m" "" "" "" "6y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154831" "00198" "00207035" "00006" "Isolated (sporadic)" "3y" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 20m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154832" "00198" "00207036" "00006" "Isolated (sporadic)" "7y" "no cleft palate (-HP:0000175); 6y slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); MRI brain abnormal; walks 14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154833" "00198" "00207037" "00006" "Isolated (sporadic)" "4y" "growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175); walks 23m" "" "" "" "0y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154834" "00198" "00207038" "00006" "Isolated (sporadic)" "4y" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 30m; speak 1st words 19m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154835" "00198" "00207039" "00006" "Isolated (sporadic)" "9y" "no cleft palate (-HP:0000175); MRI brain normal; walks 60m; speak 1st words 96m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154836" "00198" "00207040" "00006" "Isolated (sporadic)" "11y" "cleft palate (HP:0000175); MRI brain abnormal; walks 20m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154837" "00198" "00207041" "00006" "Isolated (sporadic)" "1y6m" "no cleft palate (-HP:0000175); MRI brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154838" "00198" "00207042" "00006" "Isolated (sporadic)" "5y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain abnormal; walks 30m" "" "" "" "3m" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154839" "00198" "00207043" "00006" "Isolated (sporadic)" "14y" "no cleft palate (-HP:0000175); walks 31m; speak 1st words 30m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154840" "00198" "00207044" "00006" "Isolated (sporadic)" "12y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 26m; speak 1st words 18m" "" "" "" "7y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154841" "00198" "00207045" "00006" "Isolated (sporadic)" "6y6m" "cleft palate (HP:0000175); 5y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 22m; speak 1st words 18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154842" "00198" "00207046" "00006" "Isolated (sporadic)" "12y" "no cleft palate (-HP:0000175); MRI brain normal; walks 23m; speak 1st words 60m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154843" "00198" "00207047" "00006" "Isolated (sporadic)" "9y" "no cleft palate (-HP:0000175); 4y low bone mineral density (HP:0004349); scoliosis (HP:0002650); no kyphosis (-HP:0002808); multiple fractures (HP:0002757); no elevated alkaline phosphatase (-HP:0003155); MRI brain abnormal; speak 1st words 144m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154844" "00198" "00207048" "00006" "Isolated (sporadic)" "14y" "cleft palate (HP:0000175); 14y low bone mineral density (HP:0004349); scoliosis (HP:0002650); multiple fractures (HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 36m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154845" "00198" "00207049" "00006" "Isolated (sporadic)" "2y6m" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 16.5m; speak 1st words 30m" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154846" "00198" "00207050" "00006" "Isolated (sporadic)" "5y" "no cleft palate (-HP:0000175); no reduced bone mineral density (-HP:0004349); MRI brain abnormal; walks 16m; speak 1st words 32m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154847" "00198" "00207051" "00006" "Isolated (sporadic)" "9y" "cleft palate (HP:0000175); MRI brain abnormal; walks 15m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154848" "00198" "00207052" "00006" "Isolated (sporadic)" "1y4m" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); cleft palate (HP:0000175); walks 12m" "" "" "" "1y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154849" "00198" "00207053" "00006" "Isolated (sporadic)" "4y" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 19m; speak 1st words 24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154850" "00198" "00207054" "00006" "Isolated (sporadic)" "7y" "cleft palate (HP:0000175); MRI brain abnormal; walks 15m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154851" "00198" "00207055" "00006" "Isolated (sporadic)" "1y9m" "cleft palate (HP:0000175); MRI brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154852" "00198" "00207056" "00006" "Isolated (sporadic)" "11y6m" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 30m; speak 1st words 12m" "" "" "" "1y6m" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154853" "00198" "00207057" "00006" "Isolated (sporadic)" "4m" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); cleft palate (HP:0000175)" "" "" "" "0y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154854" "00198" "00207058" "00006" "Isolated (sporadic)" "10y" "no cleft palate (-HP:0000175); MRI brain normal; walks 16m; speak 1st words 24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154855" "00198" "00207059" "00006" "Isolated (sporadic)" "7y" "no cleft palate (-HP:0000175); MRI brain abnormal; speak 1st words 48m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154856" "00198" "00207060" "00006" "Isolated (sporadic)" "2y" "no cleft palate (-HP:0000175); MRI brain normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154857" "00198" "00207061" "00006" "Isolated (sporadic)" "18y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175); MRI brain abnormal; walks 144m" "" "" "" "18y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154858" "00198" "00207062" "00006" "Isolated (sporadic)" "12y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175); walks 14m; speak 1st words 24m" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154859" "00198" "00207063" "00006" "Isolated (sporadic)" "12y" "no cleft palate (-HP:0000175); MRI brain normal; walks 19m; speak 1st words 14m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154860" "00198" "00207064" "00006" "Isolated (sporadic)" "8y" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 18m" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154861" "00198" "00207065" "00006" "Isolated (sporadic)" "7y6m" "no cleft palate (-HP:0000175); MRI brain abnormal; walks 22m; speak 1st words 5m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154862" "00198" "00207066" "00006" "Isolated (sporadic)" "5y" "cleft palate (HP:0000175); MRI brain normal; walks 26m; speak 1st words 22m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154863" "00198" "00207067" "00006" "Isolated (sporadic)" "34y" "no cleft palate (-HP:0000175); walks 42m; speak 1st words 48m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154864" "00198" "00207068" "00006" "Isolated (sporadic)" "7y6m" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 24m" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154865" "00198" "00207069" "00006" "Isolated (sporadic)" "3y" "no cleft palate (-HP:0000175); walks 19m; speak 1st words 24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154866" "00198" "00207070" "00006" "Isolated (sporadic)" "24y6m" "no cleft palate (-HP:0000175); 9y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); multiple fractures (HP:0002757); no elevated alkaline phosphatase (-HP:0003155); walks 30m; speak 1st words 10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154867" "00198" "00207071" "00006" "Isolated (sporadic)" "15y" "cleft palate (HP:0000175); MRI brain normal; walks 22m; speak 1st words 22m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154868" "00198" "00207072" "00006" "Isolated (sporadic)" "15y" "cleft palate (HP:0000175); MRI brain normal; walks 22m; speak 1st words 21m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154869" "00198" "00207073" "00006" "Isolated (sporadic)" "6y" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 24m" "" "" "" "2y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154870" "00198" "00207074" "00006" "Isolated (sporadic)" "25y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); 25y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); MRI brain normal; walks 12m" "" "" "" "25y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154871" "00198" "00207075" "00006" "Isolated (sporadic)" "12y" "cleft palate (HP:0000175); no reduced bone mineral density (-HP:0004349); walks 15m; speak 1st words 36m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154872" "00198" "00207076" "00006" "Isolated (sporadic)" "31y" "cleft palate (HP:0000175); 15y low bone mineral density (HP:0004349); scoliosis (HP:0002650); kyphosis (HP:0002808) ; multiple fractures (HP:0002757); elevated alkaline phosphatase (HP:0003155); walks 36m; speak 1st words 42m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154873" "00198" "00207077" "00006" "Isolated (sporadic)" "6y" "no cleft palate (-HP:0000175); walks 11m; speak 1st words 19m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154874" "00198" "00207078" "00006" "Isolated (sporadic)" "5y" "no cleft palate (-HP:0000175); 5y6m slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); no elevated alkaline phosphatase (-HP:0003155); MRI brain normal; walks 24m; speak 1st words 16m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154875" "00198" "00207079" "00006" "Isolated (sporadic)" "4y" "no cleft palate (-HP:0000175); MRI brain normal; walks 24m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154876" "00198" "00207080" "00006" "Isolated (sporadic)" "4y" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175); walks 48m" "" "" "" "4m" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154877" "00198" "00207081" "00006" "Isolated (sporadic)" "5y" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); walks 10m; speak 1st words 12m" "" "" "" "5y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154878" "00198" "00207082" "00006" "Isolated (sporadic)" "6y" "cleft palate (HP:0000175); 6y6m slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); 2 fractures (HP:0002757); no elevated alkaline phosphatase (-HP:0003155); MRI brain normal; walks 27m; speak 1st words 28m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154879" "00198" "00207083" "00006" "Isolated (sporadic)" "3y" "cleft palate (HP:0000175); walks 19m; speak 1st words 18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154880" "00198" "00207084" "00006" "Isolated (sporadic)" "10y6m" "growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 48m; speak 1st words 60m" "" "" "" "3y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154881" "00198" "00207085" "00006" "Isolated (sporadic)" "5y" "no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 15m; speak 1st words 12m" "" "" "" "4y" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000154882" "00198" "00207086" "00006" "Isolated (sporadic)" "20y" "no cleft palate (-HP:0000175); no reduced bone mineral density (-HP:0004349); MRI brain abnormal; walks 30m" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "" "" "0000155351" "03120" "00204584" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nGrowth delay\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155352" "03120" "00204585" "01847" "Isolated (sporadic)" "" "Cleft palate\r\nFeeding difficulties\r\nStrabismus\r\nDental crowding\r\nSleep disturbance\r\nHappy demeanor\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155353" "03120" "00204586" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nGrowth delay\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155354" "03120" "00205391" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nGrowth delay\r\nFeeding difficulties\r\nSleep disturbance\r\nHappy demeanor\r\nBroad thumb\r\nBroad hallux" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155355" "03120" "00205392" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nStrabismus\r\nSleep disturbance\r\nHappy demeanor\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155356" "03120" "00205393" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nDental Crowding\r\nHappy demeanor\r\nADHD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155357" "03120" "00205394" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nOligodontia\r\nHappy demeanor\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155358" "03120" "00205395" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nSmooth Philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155359" "03120" "00205396" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nGrowth delay\r\nSeizures\r\nOligodontia\r\nSleep disturbance\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155360" "03120" "00205397" "01847" "Isolated (sporadic)" "" "Delayed speech\r\nDental Crowding\r\nHappy demeanor\r\nSleep disturbance\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155361" "03120" "00205398" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nSeizures\r\nDental Crowding\r\nOsteopenia\r\nHappy demeanor\r\nADHD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155362" "03120" "00205422" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nGrowth delay\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nSleep disturbance\r\nThin vermillion border" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155363" "03120" "00205423" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nGrowth delay\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nBroad thumb\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155364" "03120" "00205424" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nStrabismus\r\nDental Crowding\r\nOligodontia\r\nOsteopenia\r\nHappy demeanor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155365" "03120" "00205447" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nSleep disturbance\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155366" "03120" "00205448" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nOligodontia\r\nHappy demeanor\r\nSleep disturbance\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155367" "03120" "00205449" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nGrowth Delay\r\nSleep disturbance\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155368" "03120" "00205450" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nSeizures\r\nGrowth delay\r\nDental Crowding\r\nOsteopenia\r\nHappy demeanor\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155369" "03120" "00205486" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nGrowth delay\r\nSeizures\r\nDental Crowding\r\nHappy demeanor\r\nADHD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155370" "03120" "00205487" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nStrabismus\r\nOligodontia\r\nHappy demeanor\r\nAutism\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155371" "03120" "00205488" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nGrowth delay\r\nHappy demeanor\r\nThin vermilion border\r\nADHD\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155372" "03120" "00205489" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nOsteopenia\r\nHappy demeanor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155373" "03120" "00205490" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nSleep disturbance\r\nMuscular hypotonia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155374" "03120" "00205491" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nGrowth delay\r\nStrabismus\r\nChoanal atresia\r\nOsteopenia\r\nsmooth philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155375" "03120" "00205516" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nStrabismus\r\nHappy demeanor\r\nSleep disturbance\r\nMuscular hypotonia\r\nThin vermilion border\r\nsmooth philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155376" "03120" "00205517" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nGrowth delay\r\nDental Crowding\r\nHappy demeanor\r\nSleep disturbance\r\nADHD\r\nsmooth philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155377" "03120" "00205518" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nADHD\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155378" "03120" "00205519" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nDental Crowding\r\nHappy demeanor" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155379" "03120" "00205545" "01847" "Isolated (sporadic)" "" "Delayed speech\r\nFeeding difficulties\r\nCleft palate\r\nStrabismus\r\nOligodontia\r\ntaurodontism\r\nSmooth philtrum\r\nThin vermilion border" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155380" "03120" "00205847" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nGrowth delay\r\nHappy demeanor\r\nSleep disturbance\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155381" "03120" "00205848" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nDental Crowding\r\nHappy demeanor\r\nBroad thumb" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155382" "03120" "00205849" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nFeeding difficulties\r\nStrabismus\r\nDental Crowding\r\nOligodontia\r\nHappy demeanor\r\nMuscular hypotonia\r\nThin vermilion border\r\nADHD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155383" "03120" "00205850" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nSeizures\r\nFeeding difficulties\r\nStrabismus\r\nHappy demeanor\r\nSleep disturbance\r\nMuscular hypotonia\r\nAutism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155384" "03120" "00205851" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nDental Crowding\r\nTaurodontism\r\nSleep disturbance\r\nMuscular hypotonia\r\nFlat philtrum" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155385" "03120" "00205852" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nStrabismus\r\nOsteopenia\r\nHappy demeanor\r\nSleep disturbance\r\nAutism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155386" "03120" "00205853" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nCleft palate\r\nFeeding difficulties\r\nStrabismus\r\nDental Crowding\r\nHappy demeanor\r\nMuscular hypotonia\r\nAggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155387" "03120" "00205854" "01847" "Isolated (sporadic)" "" "Global developmental delay\r\nStrabismus\r\nHappy demeanor\r\nSleep disturbance" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172984" "03120" "00229778" "01847" "Isolated (sporadic)" "" "developmental delay\r\ncleft palate\r\ndental issues\r\nfeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172986" "03120" "00229780" "01847" "Isolated (sporadic)" "" "developmental delay\r\nIntellectual disability\r\nDental issues\r\nGrowth retardation\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172987" "03120" "00229781" "01847" "Isolated (sporadic)" "03y" "Developmental delay\r\nDental issues\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172988" "03120" "00229782" "01847" "Isolated (sporadic)" "09y" "Developmental delay\r\nIntellectual disability\r\nDental issues\r\nGrowth retardation\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172989" "03120" "00229783" "01847" "Isolated (sporadic)" "05y" "Developmental delay\r\nCleft palate\r\nDental issues\r\nGrowth retardation\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172990" "03120" "00229784" "01847" "Isolated (sporadic)" "04y" "Developmental delay\r\nDental issues\r\nSeizures\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172991" "03120" "00229785" "01847" "Isolated (sporadic)" "08y" "Developmental delay\r\nIntellectual disability\r\nDental issues\r\nGrowth retardation\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172992" "03120" "00229786" "01847" "Isolated (sporadic)" "05y" "Developmental delay\r\nDental issues\r\nFeeding difficulties" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173003" "03120" "00229797" "01847" "Isolated (sporadic)" "07y" "Developmental delay\r\nCleft palate\r\nMacrodontia\r\nDiastema\r\nAbsent speech" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173004" "03120" "00229798" "01847" "Unknown" "09y" "Developmental delay\r\ncleft palate\r\nDiastema\r\nMacrodontia\r\nAbsent speech" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000236305" "00198" "00311041" "01807" "Unknown" "" "Dolichocephaly (HP:0000268); Telecanthus (HP:0000506); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000284834" "03120" "00391497" "01164" "Isolated (sporadic)" "16y" "Tall stature, Cleft palate, Misalignment of teeth, Pectus excavatum, Muscular hypotonia, Disproportionate tall stature, Pes cavus, Sandal gap, Expressive language delay, Lumbar hyperlordosis, Crowded maxillary incisors, Severe expressive language delay, Anterior pituitary dysgenesis, Moderate global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346373" "05611" "00457923" "03544" "Isolated (sporadic)" "" "HP:0010864, HP:0000708, HP:0000718, HP:0002200, HP:0001252, HP:0100738, HP:0000712, HP:0003781" "" "" "" "" "" "" "" "" "" "" "" "" "" "GLASS" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 143 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000019881" "00019888" "1" "00705" "00705" "2014-09-15 10:31:56" "" "" "SEQ" "DNA" "" "" "0000050377" "00050432" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050427" "00050482" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050448" "00050503" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050462" "00050517" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050529" "00050584" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050564" "00050619" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050606" "00050661" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081027" "00080915" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000091822" "00091679" "1" "01847" "01847" "2016-12-12 19:09:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000091827" "00091685" "1" "01847" "01847" "2016-12-13 17:55:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000091828" "00091687" "1" "01847" "01847" "2016-12-13 18:20:36" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000091829" "00091688" "1" "01847" "01847" "2016-12-13 19:13:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "" "0000091830" "00091684" "1" "01847" "01847" "2016-12-13 19:29:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000091831" "00091686" "1" "01847" "01847" "2016-12-13 22:04:57" "" "" "SEQ-NG" "DNA" "Blood" "" "0000091832" "00091689" "1" "01847" "01847" "2016-12-13 22:12:33" "" "" "SEQ-NG" "DNA" "Blood" "" "0000205611" "00204582" "1" "01847" "01847" "2018-11-09 04:28:42" "" "" "SEQ-NG" "DNA" "" "" "0000205612" "00204583" "1" "01847" "01847" "2018-11-09 04:37:37" "" "" "SEQ-NG" "DNA" "" "" "0000205613" "00204584" "1" "01847" "01847" "2018-11-09 04:40:44" "" "" "SEQ-NG" "DNA" "" "" "0000205614" "00204585" "1" "01847" "01847" "2018-11-09 04:48:24" "" "" "SEQ-NG" "DNA" "" "" "0000205615" "00204586" "1" "01847" "01847" "2018-11-09 04:50:35" "" "" "SEQ-NG" "DNA" "" "" "0000206419" "00205391" "1" "01847" "01847" "2018-11-11 16:17:44" "" "" "SEQ-NG" "DNA" "" "" "0000206420" "00205392" "1" "01847" "01847" "2018-11-11 16:21:14" "" "" "SEQ-NG" "DNA" "" "" "0000206421" "00205393" "1" "01847" "01847" "2018-11-11 16:24:35" "" "" "SEQ-NG" "DNA" "" "" "0000206422" "00205394" "1" "01847" "01847" "2018-11-11 16:28:42" "" "" "SEQ-NG" "DNA" "" "" "0000206423" "00205395" "1" "01847" "01847" "2018-11-11 16:31:04" "" "" "SEQ-NG" "DNA" "" "" "0000206424" "00205396" "1" "01847" "01847" "2018-11-11 16:33:21" "" "" "SEQ-NG" "DNA" "" "" "0000206425" "00205397" "1" "01847" "01847" "2018-11-11 16:35:40" "" "" "SEQ-NG" "DNA" "" "" "0000206426" "00205398" "1" "01847" "01847" "2018-11-11 16:38:32" "" "" "SEQ-NG" "DNA" "" "" "0000206450" "00205422" "1" "01847" "01847" "2018-11-11 16:40:51" "" "" "SEQ-NG" "DNA" "" "" "0000206451" "00205423" "1" "01847" "01847" "2018-11-11 16:42:52" "" "" "SEQ-NG" "DNA" "" "" "0000206452" "00205424" "1" "01847" "01847" "2018-11-11 16:44:49" "" "" "SEQ-NG" "DNA" "" "" "0000206476" "00205447" "1" "01847" "01847" "2018-11-11 16:54:23" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000206477" "00205448" "1" "01847" "01847" "2018-11-11 16:56:20" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000206478" "00205449" "1" "01847" "01847" "2018-11-11 16:58:28" "" "" "SEQ-NG" "DNA" "" "Clinical Exome" "0000206479" "00205450" "1" "01847" "01847" "2018-11-11 17:00:46" "" "" "SEQ-NG" "DNA" "" "WES" "0000206515" "00205486" "1" "01847" "01847" "2018-11-11 17:03:17" "" "" "SEQ-NG" "DNA" "" "WES" "0000206516" "00205487" "1" "01847" "01847" "2018-11-11 17:05:11" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000206517" "00205488" "1" "01847" "01847" "2018-11-11 17:07:31" "" "" "SEQ-NG" "DNA" "" "WES" "0000206518" "00205489" "1" "01847" "01847" "2018-11-11 17:09:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000206519" "00205490" "1" "01847" "01847" "2018-11-11 17:10:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000206544" "00205491" "1" "01847" "01847" "2018-11-11 17:12:23" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000206545" "00205516" "1" "01847" "01847" "2018-11-11 17:14:28" "" "" "SEQ-NG" "DNA" "" "WES" "0000206546" "00205517" "1" "01847" "01847" "2018-11-11 17:16:43" "" "" "SEQ-NG" "DNA" "" "WES" "0000206547" "00205518" "1" "01847" "01847" "2018-11-11 17:18:23" "" "" "SEQ-NG" "DNA" "" "" "0000206548" "00205519" "1" "01847" "01847" "2018-11-11 17:20:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000206574" "00205545" "1" "01847" "01847" "2018-11-11 17:24:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000206876" "00205847" "1" "01847" "01847" "2018-11-12 05:12:29" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000206877" "00205848" "1" "01847" "01847" "2018-11-12 05:19:57" "" "" "SEQ-NG" "DNA" "" "Targete testing" "0000206878" "00205849" "1" "01847" "01847" "2018-11-12 05:22:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000206879" "00205850" "1" "01847" "01847" "2018-11-12 05:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000206880" "00205851" "1" "01847" "01847" "2018-11-12 05:30:30" "" "" "SEQ-NG" "DNA" "" "WES" "0000206881" "00205852" "1" "01847" "01847" "2018-11-12 05:37:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000206882" "00205853" "1" "01847" "01847" "2018-11-12 05:49:36" "" "" "SEQ-NG" "DNA" "" "WGS" "0000206883" "00205854" "1" "01847" "01847" "2018-11-12 05:53:23" "" "" "SEQ-NG" "DNA" "" "ID panel" "0000208050" "00207015" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208051" "00207016" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208052" "00207017" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208053" "00207018" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208054" "00207019" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208055" "00207020" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208056" "00207021" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208057" "00207022" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208058" "00207023" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208059" "00207024" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208060" "00207025" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208061" "00207026" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208062" "00207027" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208063" "00207028" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208064" "00207029" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208065" "00207030" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208066" "00207031" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208067" "00207032" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208068" "00207033" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208069" "00207034" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208070" "00207035" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208071" "00207036" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208072" "00207037" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208073" "00207038" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208074" "00207039" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208075" "00207040" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208076" "00207041" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208077" "00207042" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208078" "00207043" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208079" "00207044" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208080" "00207045" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208081" "00207046" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208082" "00207047" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208083" "00207048" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208084" "00207049" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208085" "00207050" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208086" "00207051" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208087" "00207052" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208088" "00207053" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208089" "00207054" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208090" "00207055" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208091" "00207056" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208092" "00207057" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208093" "00207058" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208094" "00207059" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208095" "00207060" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208096" "00207061" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208097" "00207062" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208098" "00207063" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208099" "00207064" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208100" "00207065" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208101" "00207066" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208102" "00207067" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208103" "00207068" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208104" "00207069" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208105" "00207070" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208106" "00207071" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208107" "00207072" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208108" "00207073" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208109" "00207074" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208110" "00207075" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208111" "00207076" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208112" "00207077" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208113" "00207078" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208114" "00207079" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208115" "00207080" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208116" "00207081" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208117" "00207082" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208118" "00207083" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000208119" "00207084" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH;SEQ" "DNA" "" "" "0000208120" "00207085" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "arrayCGH" "DNA" "" "" "0000208121" "00207086" "1" "00006" "00006" "2018-11-18 12:24:11" "" "" "SEQ" "DNA" "" "" "0000230871" "00229778" "1" "01847" "01847" "2019-04-10 20:21:50" "" "" "SEQ" "DNA" "" "" "0000230873" "00229780" "1" "01847" "01847" "2019-04-10 20:37:10" "" "" "SEQ-NG" "DNA" "" "" "0000230874" "00229781" "1" "01847" "01847" "2019-04-10 21:00:25" "" "" "SEQ-NG" "DNA" "" "" "0000230875" "00229782" "1" "01847" "01847" "2019-04-10 21:06:30" "" "" "SEQ-NG" "DNA" "" "" "0000230876" "00229783" "1" "01847" "01847" "2019-04-10 21:13:57" "" "" "SEQ-NG" "DNA" "" "" "0000230877" "00229784" "1" "01847" "01847" "2019-04-10 21:27:21" "" "" "SEQ-NG" "DNA" "" "" "0000230878" "00229785" "1" "01847" "01847" "2019-04-10 21:34:29" "" "" "SEQ-NG" "DNA" "" "" "0000230879" "00229786" "1" "01847" "01847" "2019-04-10 21:40:34" "" "" "SEQ-NG" "DNA" "" "" "0000230890" "00229797" "1" "01847" "01847" "2019-04-10 23:04:39" "" "" "SEQ-NG" "DNA" "" "" "0000230891" "00229798" "1" "01847" "01847" "2019-04-10 23:08:53" "" "" "SEQ-NG" "DNA" "" "" "0000293697" "00292529" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000312193" "00311041" "1" "01807" "01807" "2020-09-14 10:40:01" "" "" "SEQ" "DNA" "" "" "0000392739" "00391497" "1" "01164" "01164" "2021-11-16 12:21:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000459543" "00457923" "1" "03544" "03544" "2024-11-21 14:07:13" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 145 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000019881" "SATB2" "0000050377" "SATB2" "0000050427" "SATB2" "0000050448" "SATB2" "0000050462" "SATB2" "0000050529" "SATB2" "0000050564" "SATB2" "0000050606" "SATB2" "0000081027" "SATB2" "0000091827" "SATB2" "0000091828" "SATB2" "0000091829" "SATB2" "0000091830" "SATB2" "0000091831" "SATB2" "0000091832" "SATB2" "0000208050" "SATB2" "0000208051" "SATB2" "0000208052" "SATB2" "0000208053" "SATB2" "0000208054" "SATB2" "0000208055" "SATB2" "0000208056" "SATB2" "0000208057" "SATB2" "0000208058" "SATB2" "0000208059" "SATB2" "0000208060" "SATB2" "0000208061" "SATB2" "0000208062" "SATB2" "0000208063" "SATB2" "0000208064" "SATB2" "0000208065" "SATB2" "0000208066" "SATB2" "0000208067" "SATB2" "0000208068" "SATB2" "0000208069" "SATB2" "0000208070" "SATB2" "0000208071" "SATB2" "0000208072" "SATB2" "0000208073" "SATB2" "0000208074" "SATB2" "0000208075" "SATB2" "0000208076" "SATB2" "0000208077" "SATB2" "0000208078" "SATB2" "0000208079" "SATB2" "0000208080" "SATB2" "0000208081" "SATB2" "0000208082" "SATB2" "0000208083" "SATB2" "0000208084" "SATB2" "0000208085" "SATB2" "0000208086" "SATB2" "0000208087" "SATB2" "0000208088" "SATB2" "0000208089" "SATB2" "0000208090" "SATB2" "0000208091" "SATB2" "0000208092" "SATB2" "0000208093" "SATB2" "0000208094" "SATB2" "0000208095" "SATB2" "0000208096" "SATB2" "0000208097" "SATB2" "0000208098" "SATB2" "0000208099" "SATB2" "0000208100" "SATB2" "0000208101" "SATB2" "0000208102" "SATB2" "0000208103" "SATB2" "0000208104" "SATB2" "0000208105" "SATB2" "0000208106" "SATB2" "0000208107" "SATB2" "0000208108" "SATB2" "0000208109" "SATB2" "0000208110" "SATB2" "0000208111" "SATB2" "0000208112" "SATB2" "0000208113" "SATB2" "0000208114" "SATB2" "0000208115" "SATB2" "0000208116" "SATB2" "0000208117" "SATB2" "0000208118" "SATB2" "0000208119" "SATB2" "0000208120" "SATB2" "0000208121" "SATB2" "0000230871" "SATB2" "0000392739" "SATB2" ## 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 = 207 "{{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}}" "0000000860" "1" "50" "2" "200245245" "200245245" "subst" "0.666757" "00002" "SATB2_000001" "g.200245245C>G" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs1348813" "0" "" "" "g.199380522C>G" "" "VUS" "" "0000000861" "3" "50" "2" "200137608" "200137608" "subst" "0" "00002" "SATB2_000002" "g.200137608T>C" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs2881208" "0" "" "" "g.199272885T>C" "" "VUS" "" "0000040347" "0" "90" "2" "200213667" "200213668" "ins" "0" "00705" "SATB2_000003" "g.200213667_200213668insGTTGCCTTACAA" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.199348944_199348945insGTTGCCTTACAA" "" "pathogenic" "" "0000079357" "0" "90" "2" "200193432" "200193432" "subst" "0" "00006" "SATB2_000005" "g.200193432G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic" "" "0000079407" "0" "90" "2" "200245089" "200245091" "del" "0" "00006" "SATB2_000010" "g.200245089_200245091del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "593_596delinsA" "" "De novo" "" "" "0" "" "" "g.199380366_199380368del" "" "pathogenic" "" "0000079428" "0" "90" "2" "200193611" "200193611" "subst" "0" "00006" "SATB2_000007" "g.200193611C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.199328888C>T" "" "pathogenic" "" "0000079442" "0" "90" "2" "200213422" "200213422" "subst" "0" "00006" "SATB2_000008" "g.200213422A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "splice variant" "De novo" "" "" "0" "" "" "g.199348699A>G" "" "pathogenic" "" "0000079509" "0" "90" "2" "200213431" "200213431" "subst" "0" "00006" "SATB2_000009" "g.200213431C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.199348708C>A" "" "pathogenic" "" "0000079544" "0" "90" "2" "200173680" "200173680" "subst" "0" "00006" "SATB2_000004" "g.200173680C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.199308957C>T" "" "pathogenic" "" "0000079586" "0" "90" "2" "200193603" "200193603" "subst" "0" "00006" "SATB2_000006" "g.200193603C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.199328880C>T" "" "pathogenic" "" "0000130113" "0" "70" "2" "200188525" "200188525" "subst" "0" "01758" "SATB2_000018" "g.200188525C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.199323802C>T" "" "likely pathogenic" "ACMG" "0000149992" "0" "70" "2" "200246490" "200246490" "del" "0" "01847" "SATB2_000011" "g.200246490del" "" "Author, submitted" "" "200246490_200246490delC" "de novo in patient" "De novo" "" "" "0" "" "" "g.199381767del" "" "likely pathogenic" "" "0000149998" "0" "70" "2" "200245204" "200245204" "del" "0" "01847" "SATB2_000013" "g.200245204del" "" "Author, submitted" "" "" "De novo in patient" "De novo" "" "" "0" "" "" "g.199380481del" "" "likely pathogenic" "" "0000149999" "0" "70" "2" "200245101" "200245101" "dup" "0" "01847" "SATB2_000015" "g.200245101dup" "" "Author, submitted" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.199380378dup" "" "likely pathogenic" "" "0000150000" "0" "70" "2" "200213781" "200213781" "del" "0" "01847" "SATB2_000016" "g.200213781del" "" "Author, submitted" "" "" "De novo in patient" "De novo" "" "" "0" "" "" "g.199349058del" "" "likely pathogenic" "" "0000150001" "0" "70" "2" "200213750" "200213750" "subst" "0" "01847" "SATB2_000012" "g.200213750G>A" "" "Author, submitted" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.199349027G>A" "" "likely pathogenic" "" "0000150002" "0" "70" "2" "200193552" "200193552" "subst" "0" "01847" "SATB2_000014" "g.200193552G>A" "" "Author, submitted" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.199328829G>A" "" "likely pathogenic" "" "0000150003" "0" "70" "2" "200173495" "200173495" "del" "0" "01847" "SATB2_000017" "g.200173495del" "" "Author, submitted" "" "" "parents not analyzed" "Germline/De novo (untested)" "?" "" "0" "" "" "g.199308772del" "" "likely pathogenic" "" "0000297905" "0" "10" "2" "200173684" "200173684" "subst" "0.985488" "02325" "SATB2_000020" "g.200173684T>G" "" "" "" "SATB2(NM_001172509.2):c.1543-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199308961T>G" "" "benign" "" "0000299331" "0" "90" "2" "200193432" "200193432" "subst" "0" "02329" "SATB2_000005" "g.200193432G>A" "" "" "" "SATB2(NM_001172509.1):c.1375C>T (p.(Arg459*)), SATB2(NM_001172509.2):c.1375C>T (p.R459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic" "" "0000299333" "0" "90" "2" "200213750" "200213750" "subst" "0" "02329" "SATB2_000012" "g.200213750G>A" "" "" "" "SATB2(NM_001172509.2):c.847C>T (p.R283*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199349027G>A" "" "pathogenic" "" "0000301648" "0" "90" "2" "200193432" "200193432" "subst" "0" "02326" "SATB2_000005" "g.200193432G>A" "" "" "" "SATB2(NM_001172509.1):c.1375C>T (p.(Arg459*)), SATB2(NM_001172509.2):c.1375C>T (p.R459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic" "" "0000307711" "0" "70" "2" "200298074" "200298074" "del" "0" "01943" "SATB2_000028" "g.200298074del" "" "" "" "SATB2(NM_001172509.2):c.334delG (p.A112Pfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199433351del" "" "likely pathogenic" "" "0000307712" "0" "90" "2" "200213699" "200213702" "del" "0" "01943" "SATB2_000024" "g.200213699_200213702del" "" "" "" "SATB2(NM_001172509.2):c.895_898delTCTC (p.S299Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199348976_199348979del" "" "pathogenic" "" "0000328036" "0" "50" "2" "200193521" "200193521" "subst" "0" "01804" "SATB2_000021" "g.200193521C>T" "" "" "" "SATB2(NM_001172509.1):c.1286G>A (p.(Arg429Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199328798C>T" "" "VUS" "" "0000328039" "0" "70" "2" "200246474" "200246474" "subst" "0" "01804" "SATB2_000026" "g.200246474A>T" "" "" "" "SATB2(NM_001172509.1):c.416T>A (p.(Val139Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199381751A>T" "" "likely pathogenic" "" "0000342366" "0" "90" "2" "200213882" "200213882" "subst" "0" "02327" "SATB2_000034" "g.200213882G>A" "" "" "" "SATB2(NM_001172509.2):c.715C>T (p.R239*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic" "" "0000342815" "0" "90" "2" "200193611" "200193611" "subst" "0" "02327" "SATB2_000007" "g.200193611C>T" "" "" "" "SATB2(NM_001172509.2):c.1196G>A (p.R399H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199328888C>T" "" "pathogenic" "" "0000343917" "0" "90" "2" "200246457" "200246457" "del" "0" "02327" "SATB2_000037" "g.200246457del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199381734del" "" "pathogenic" "" "0000344158" "0" "50" "2" "200137233" "200137233" "subst" "0" "02327" "SATB2_000029" "g.200137233C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199272510C>A" "" "VUS" "" "0000344595" "0" "90" "2" "200245179" "200245179" "subst" "0" "02327" "SATB2_000036" "g.200245179G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199380456G>A" "" "pathogenic" "" "0000344906" "0" "50" "2" "200173504" "200173504" "subst" "0" "02327" "SATB2_000030" "g.200173504C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199308781C>G" "" "VUS" "" "0000347588" "0" "70" "2" "200188573" "200188573" "subst" "0" "02327" "SATB2_000031" "g.200188573T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199323850T>A" "" "likely pathogenic" "" "0000349497" "0" "30" "2" "200193591" "200193591" "subst" "0" "02327" "SATB2_000032" "g.200193591T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.199328868T>C" "" "likely benign" "" "0000435009" "0" "90" "2" "200213882" "200213882" "subst" "0" "01847" "SATB2_000034" "g.200213882G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic (dominant)" "" "0000435010" "0" "90" "2" "200213882" "200213882" "subst" "0" "01847" "SATB2_000034" "g.200213882G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic" "" "0000435011" "0" "70" "2" "200213750" "200213750" "subst" "0" "01847" "SATB2_000012" "g.200213750G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349027G>A" "" "pathogenic (dominant)" "" "0000435012" "0" "70" "2" "200213729" "200213729" "subst" "0" "01847" "SATB2_000038" "g.200213729G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349006G>A" "" "pathogenic (dominant)" "" "0000435013" "0" "70" "2" "200213729" "200213729" "subst" "0" "01847" "SATB2_000038" "g.200213729G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.199349006G>A" "" "pathogenic" "" "0000435992" "0" "70" "2" "200213609" "200213609" "subst" "0" "01847" "SATB2_000050" "g.200213609G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348886G>A" "" "likely pathogenic" "" "0000435993" "0" "70" "2" "200213600" "200213600" "subst" "0" "01847" "SATB2_000049" "g.200213600G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348877G>A" "" "likely pathogenic" "" "0000435994" "0" "70" "2" "200213462" "200213462" "subst" "0" "01847" "SATB2_000047" "g.200213462G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348739G>A" "" "likely pathogenic" "" "0000435995" "0" "70" "2" "200193522" "200193522" "subst" "0" "01847" "SATB2_000022" "g.200193522G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328799G>A" "" "likely pathogenic" "" "0000435996" "0" "70" "2" "200193432" "200193432" "subst" "0" "01847" "SATB2_000005" "g.200193432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328709G>A" "" "likely pathogenic" "" "0000435997" "0" "70" "2" "200213837" "200213837" "subst" "0" "01847" "SATB2_000051" "g.200213837G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349114G>A" "" "likely pathogenic" "" "0000435998" "0" "70" "2" "200213495" "200213495" "subst" "0" "01847" "SATB2_000048" "g.200213495C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348772C>A" "" "likely pathogenic" "" "0000436044" "0" "70" "2" "200213461" "200213461" "subst" "0" "01847" "SATB2_000046" "g.200213461T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348738T>G" "" "likely pathogenic" "" "0000436045" "0" "70" "2" "200213432" "200213432" "subst" "0" "01847" "SATB2_000023" "g.200213432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "likely pathogenic" "" "0000436046" "0" "70" "2" "200213432" "200213432" "subst" "0" "01847" "SATB2_000023" "g.200213432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "likely pathogenic" "" "0000436047" "0" "90" "2" "200213432" "200213432" "subst" "0" "01847" "SATB2_000023" "g.200213432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "pathogenic" "" "0000436082" "0" "90" "2" "200213432" "200213432" "subst" "0" "01847" "SATB2_000023" "g.200213432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "pathogenic" "" "0000436083" "0" "70" "2" "200213431" "200213431" "subst" "0" "01847" "SATB2_000009" "g.200213431C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348708C>A" "" "likely pathogenic" "" "0000436084" "0" "70" "2" "200213428" "200213428" "subst" "0" "01847" "SATB2_000045" "g.200213428G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348705G>A" "" "likely pathogenic" "" "0000436085" "0" "70" "2" "200193632" "200193632" "subst" "0" "01847" "SATB2_000044" "g.200193632C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328909C>T" "" "likely pathogenic" "" "0000436123" "0" "70" "2" "200193611" "200193611" "subst" "0" "01847" "SATB2_000007" "g.200193611C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328888C>T" "" "likely pathogenic" "" "0000436124" "0" "70" "2" "200193611" "200193611" "subst" "0" "01847" "SATB2_000043" "g.200193611C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328888C>A" "" "likely pathogenic" "" "0000436125" "0" "70" "2" "200193611" "200193611" "subst" "0" "01847" "SATB2_000043" "g.200193611C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328888C>A" "" "likely pathogenic" "" "0000436126" "0" "70" "2" "200193554" "200193554" "subst" "0" "01847" "SATB2_000042" "g.200193554A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328831A>C" "" "likely pathogenic" "" "0000436127" "0" "70" "2" "200193521" "200193521" "subst" "0" "01847" "SATB2_000021" "g.200193521C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.199328798C>T" "" "likely pathogenic" "" "0000436152" "0" "70" "2" "200188527" "200188527" "subst" "0" "01847" "SATB2_000041" "g.200188527T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199323804T>C" "" "likely pathogenic" "" "0000436153" "0" "70" "2" "200173659" "200173659" "subst" "0" "01847" "SATB2_000039" "g.200173659G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199308936G>A" "" "likely pathogenic" "" "0000436154" "0" "70" "2" "200173669" "200173669" "subst" "0" "01847" "SATB2_000040" "g.200173669A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199308946A>C" "" "likely pathogenic" "" "0000436155" "0" "70" "2" "200137233" "200137233" "subst" "0" "01847" "SATB2_000029" "g.200137233C>A" "" "" "" "" "Same individual as the one reported under VKGL data sharing initiative Nederlands" "De novo" "" "" "0" "" "" "g.199272510C>A" "" "likely pathogenic" "" "0000436206" "0" "70" "2" "200320751" "200320758" "del" "0" "01847" "SATB2_000053" "g.200320751_200320758del" "" "" "" "9_16delGCGGAGCG" "" "De novo" "" "" "0" "" "" "g.199456028_199456035del" "" "likely pathogenic" "" "0000436207" "0" "70" "2" "200320742" "200320742" "dup" "0" "01847" "SATB2_000052" "g.200320742dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199456019dup" "" "likely pathogenic" "" "0000436515" "0" "70" "2" "200298074" "200298074" "del" "0" "01847" "SATB2_000028" "g.200298074del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199433351del" "" "likely pathogenic" "" "0000436516" "0" "70" "2" "200213766" "200213766" "del" "0" "01847" "SATB2_000056" "g.200213766del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349043del" "" "likely pathogenic" "" "0000436517" "0" "70" "2" "200213464" "200213465" "ins" "0" "01847" "SATB2_000057" "g.200213464_200213465insGT" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199348741_199348742insGT" "" "likely pathogenic" "" "0000436518" "0" "70" "2" "200193611" "200193611" "del" "0" "01847" "SATB2_000058" "g.200193611del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328888del" "" "likely pathogenic" "" "0000436519" "0" "70" "2" "200193611" "200193611" "del" "0" "01847" "SATB2_000058" "g.200193611del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199328888del" "" "likely pathogenic" "" "0000436520" "0" "70" "2" "200188559" "200188560" "ins" "0" "01847" "SATB2_000059" "g.200188559_200188560insCTTGAGG" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199323836_199323837insCTTGAGG" "" "likely pathogenic" "" "0000436521" "0" "70" "2" "200173581" "200173584" "del" "0" "01847" "SATB2_000060" "g.200173581_200173584delinsAAA" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199308858_199308861delinsAAA" "" "likely pathogenic" "" "0000436522" "0" "70" "2" "200173568" "200173568" "del" "0" "01847" "SATB2_000055" "g.200173568del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199308845del" "" "likely pathogenic" "" "0000436523" "0" "70" "2" "200246417" "200246417" "del" "0" "01847" "SATB2_000054" "g.200246417del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.199381694del" "" "likely pathogenic" "" "0000437846" "0" "90" "2" "200298061" "200298061" "subst" "0" "00006" "SATB2_000088" "g.200298061C>G" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "ULD domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199433338C>G" "" "pathogenic (dominant)" "" "0000437847" "0" "90" "2" "200199481" "200340178" "del" "0" "00006" "SATB2_000077" "g.(?_200199481)_(200340178_?)del" "" "{PMID:Zarate 2018:29436146}" "" "141kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437848" "0" "90" "2" "200137193" "200137193" "dup" "0" "00006" "SATB2_000067" "g.200137193dup" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "1945dupT" "HOX domain" "De novo" "" "" "0" "" "" "g.199272470dup" "" "pathogenic (dominant)" "" "0000437849" "0" "90" "2" "200213750" "200213750" "subst" "0" "00006" "SATB2_000012" "g.200213750G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "" "De novo" "" "" "0" "" "" "g.199349027G>A" "" "pathogenic (dominant)" "" "0000437850" "0" "90" "2" "200246490" "200246490" "del" "0" "00006" "SATB2_000011" "g.200246490del" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "400delG" "ULD domain" "De novo" "" "" "0" "" "" "g.199381767del" "" "pathogenic (dominant)" "" "0000437851" "0" "90" "2" "200193552" "200193552" "subst" "0" "00006" "SATB2_000014" "g.200193552G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain" "De novo" "" "" "0" "" "" "g.199328829G>A" "" "pathogenic (dominant)" "" "0000437852" "0" "90" "2" "200173495" "200173495" "del" "0" "00006" "SATB2_000017" "g.200173495del" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "1728delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199308772del" "" "pathogenic (dominant)" "" "0000437853" "0" "90" "2" "200180939" "200200560" "del" "0" "00006" "SATB2_000070" "g.(?_200180939)_(200200560_?)del" "" "{PMID:Zarate 2018:29436146}" "" "19.6kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437854" "0" "90" "2" "200213781" "200213781" "del" "0" "00006" "SATB2_000016" "g.200213781del" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "816delT" "" "De novo" "" "" "0" "" "" "g.199349058del" "" "pathogenic (dominant)" "" "0000437855" "0" "90" "2" "199637244" "201405505" "del" "0" "00006" "SATB2_000061" "g.(?_199637244)_(201405505_?)del" "" "{PMID:Zarate 2018:29436146}" "" "1.77Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437856" "0" "90" "2" "199632071" "203218563" "del" "0" "00006" "SATB2_000061" "g.(?_199632071)_(203218563_?)del" "" "{PMID:Zarate 2018:29436146}" "" "3.6Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437857" "0" "90" "2" "191241762" "201980635" "del" "0" "00006" "SATB2_000061" "g.(?_191241762)_(201980635_?)del" "" "{PMID:Zarate 2018:29436146}" "" "10.74Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437858" "0" "70" "2" "200193521" "200193521" "subst" "0" "00006" "SATB2_000021" "g.200193521C>T" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199328798C>T" "" "likely pathogenic (dominant)" "" "0000437859" "0" "90" "2" "200245101" "200245101" "dup" "0" "00006" "SATB2_000015" "g.200245101dup" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "583dupT" "" "De novo" "" "" "0" "" "" "g.199380378dup" "" "pathogenic (dominant)" "" "0000437860" "0" "90" "2" "198264747" "202954071" "del" "0" "00006" "SATB2_000061" "g.(?_198264747)_(202954071_?)del" "" "{PMID:Zarate 2018:29436146}" "" "4.68Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437861" "0" "70" "2" "200137172" "200137172" "subst" "0" "00006" "SATB2_000066" "g.200137172G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "HOX domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199272449G>A" "" "likely pathogenic (dominant)" "" "0000437862" "0" "90" "2" "196499005" "204851272" "del" "0" "00006" "SATB2_000061" "g.(?_196499005)_(204851272_?)del" "" "{PMID:Zarate 2018:29436146}" "" "8.4Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437863" "0" "90" "2" "200213426" "200213426" "subst" "0" "00006" "SATB2_000079" "g.200213426G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain" "De novo" "" "" "0" "" "" "g.199348703G>A" "" "pathogenic (dominant)" "" "0000437864" "0" "90" "2" "196233275" "201079054" "del" "0" "00006" "SATB2_000061" "g.(?_196233275)_(201079054_?)del" "" "{PMID:Zarate 2018:29436146}" "" "4.8Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437865" "0" "90" "2" "200151782" "200336956" "del" "0" "00006" "SATB2_000068" "g.(?_200151782)_(200336956_?)del" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "185kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437866" "0" "90" "2" "200193521" "200193521" "subst" "0" "00006" "SATB2_000021" "g.200193521C>T" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199328798C>T" "" "pathogenic (dominant)" "" "0000437867" "0" "90" "2" "200320637" "200320637" "subst" "0" "00006" "SATB2_000092" "g.200320637C>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "" "De novo" "" "" "0" "" "" "g.199455914C>A" "" "pathogenic (dominant)" "" "0000437868" "0" "90" "2" "200018395" "200246466" "del" "0" "00006" "SATB2_000062" "g.(?_200018395)_(200246466_?)del" "" "{PMID:Zarate 2018:29436146}" "" "228kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437869" "0" "90" "2" "200137108" "200137108" "del" "0" "00006" "SATB2_000063" "g.200137108del" "" "{PMID:Zarate 2018:29436146}" "" "2028delG" "" "De novo" "" "" "0" "" "" "g.199272385del" "" "pathogenic (dominant)" "" "0000437870" "0" "90" "2" "200246500" "200246500" "subst" "0" "00006" "SATB2_000085" "g.200246500A>T" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "ULD domain" "Germline/De novo (untested)" "" "" "0" "" "" "g.199381777A>T" "" "pathogenic (dominant)" "" "0000437871" "0" "90" "2" "200245204" "200245204" "del" "0" "00006" "SATB2_000013" "g.200245204del" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "482delA" "" "De novo" "" "" "0" "" "" "g.199380481del" "" "pathogenic (dominant)" "" "0000437872" "0" "90" "2" "200193522" "200193522" "subst" "0" "00006" "SATB2_000022" "g.200193522G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain" "De novo" "" "" "0" "" "" "g.199328799G>A" "" "pathogenic (dominant)" "" "0000437873" "0" "90" "2" "198658273" "213766678" "del" "0" "00006" "SATB2_000061" "g.(?_198658273)_(213766678_?)del" "" "{PMID:Zarate 2018:29436146}" "" "15Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437874" "0" "70" "2" "200213440" "200213440" "subst" "0" "00006" "SATB2_000080" "g.200213440G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199348717G>A" "" "likely pathogenic (dominant)" "" "0000437875" "0" "90" "2" "192050774" "206824244" "del" "0" "00006" "SATB2_000061" "g.(?_192050774)_(206824244_?)del" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "14.7Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437876" "0" "90" "2" "200213882" "200213882" "subst" "0" "00006" "SATB2_000034" "g.200213882G>A" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic (dominant)" "" "0000437877" "0" "90" "2" "200193635" "200193635" "subst" "0" "00006" "SATB2_000076" "g.200193635T>C" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain" "De novo" "" "" "0" "" "" "g.199328912T>C" "" "pathogenic (dominant)" "" "0000437878" "0" "70" "2" "200193633" "200193633" "subst" "0" "00006" "SATB2_000075" "g.200193633C>G" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "Germline/De novo (untested)" "" "" "0" "" "" "g.199328910C>G" "" "likely pathogenic (dominant)" "" "0000437879" "0" "70" "2" "200193611" "200193611" "subst" "0" "00006" "SATB2_000074" "g.200193611C>G" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "Germline/De novo (untested)" "" "" "0" "" "" "g.199328888C>G" "" "likely pathogenic (dominant)" "" "0000437880" "0" "90" "2" "198918163" "203562881" "del" "0" "00006" "SATB2_000061" "g.(?_198918163)_(203562881_?)del" "" "{PMID:Zarate 2018:29436146}" "" "4.6Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437881" "0" "90" "2" "200188573" "200188573" "subst" "0" "00006" "SATB2_000031" "g.200188573T>A" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT2 domain" "De novo" "" "" "0" "" "" "g.199323850T>A" "" "pathogenic (dominant)" "" "0000437882" "0" "90" "2" "200298061" "200298061" "subst" "0" "00006" "SATB2_000089" "g.200298061C>A" "" "{PMID:Zarate 2018:29436146}" "" "" "ULD domain" "De novo" "" "" "0" "" "" "g.199433338C>A" "" "pathogenic (dominant)" "" "0000437883" "0" "90" "2" "190971040" "205973973" "del" "0" "00006" "SATB2_000061" "g.(?_190971040)_(205973973_?)del" "" "{PMID:Zarate 2018:29436146}" "" "15Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437884" "0" "70" "2" "200213432" "200213432" "subst" "0" "00006" "SATB2_000023" "g.200213432G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "likely pathogenic (dominant)" "" "0000437885" "0" "70" "2" "200213432" "200213432" "subst" "0" "00006" "SATB2_000023" "g.200213432G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "likely pathogenic (dominant)" "" "0000437886" "0" "90" "2" "200137167" "200137168" "del" "0" "00006" "SATB2_000065" "g.200137167_200137168del" "" "{PMID:Zarate 2018:29436146}" "" "1972_1973delAC" "HOX domain" "De novo" "" "" "0" "" "" "g.199272444_199272445del" "" "pathogenic (dominant)" "" "0000437887" "0" "90" "2" "198588111" "200411579" "del" "0" "00006" "SATB2_000061" "g.(?_198588111)_(200411579_?)del" "" "{PMID:Zarate 2018:29436146}" "" "1.8Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437888" "0" "90" "2" "195763510" "202021245" "del" "0" "00006" "SATB2_000061" "g.(?_195763510)_(202021245_?)del" "" "{PMID:Zarate 2018:29436146}" "" "7Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437889" "0" "90" "2" "200213469" "200213470" "del" "0" "00006" "SATB2_000081" "g.200213469_200213470del" "" "{PMID:Zarate 2018:29436146}" "" "1131_1132delGT" "CUT1 domain" "Germline/De novo (untested)" "" "" "0" "" "" "g.199348746_199348747del" "" "pathogenic (dominant)" "" "0000437890" "0" "70" "2" "200193603" "200193603" "subst" "0" "00006" "SATB2_000006" "g.200193603C>T" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199328880C>T" "" "likely pathogenic (dominant)" "" "0000437891" "0" "90" "2" "200193496" "200193499" "dup" "0" "00006" "SATB2_000073" "g.200193496_200193499dup" "" "{PMID:Zarate 2018:29436146}" "" "1311_1314dupGGAG" "CUT1 domain" "Germline/De novo (untested)" "" "" "0" "" "" "g.199328773_199328776dup" "" "pathogenic (dominant)" "" "0000437892" "0" "90" "2" "200190560" "200200832" "del" "0" "00006" "SATB2_000072" "g.(?_200190560)_(200200832_?)del" "" "{PMID:Zarate 2018:29436146}" "" "10kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437893" "0" "90" "2" "190417040" "202267001" "del" "0" "00006" "SATB2_000061" "g.(?_190417040)_(202267001_?)del" "" "{PMID:Zarate 2018:29436146}" "" "11.8Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437894" "0" "70" "2" "200298120" "200298120" "subst" "0" "00006" "SATB2_000090" "g.200298120A>C" "" "{PMID:Zarate 2018:29436146}" "" "" "ULD domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199433397A>C" "" "likely pathogenic (dominant)" "" "0000437895" "0" "90" "2" "200280770" "200325182" "del" "0" "00006" "SATB2_000086" "g.(?_200280770)_(200325182_?)del" "" "{PMID:Zarate 2018:29436146}" "" "45kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437896" "0" "70" "2" "200193611" "200193611" "subst" "0" "00006" "SATB2_000007" "g.200193611C>T" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199328888C>T" "" "likely pathogenic (dominant)" "" "0000437897" "0" "70" "2" "200246498" "200246498" "subst" "0" "00006" "SATB2_000084" "g.200246498A>T" "" "{PMID:Zarate 2018:29436146}" "" "" "ULD domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199381775A>T" "" "likely pathogenic (dominant)" "" "0000437898" "0" "90" "2" "200245179" "200245179" "subst" "0" "00006" "SATB2_000036" "g.200245179G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "" "De novo" "" "" "0" "" "" "g.199380456G>A" "" "pathogenic (dominant)" "" "0000437899" "0" "90" "2" "200239708" "203172190" "dup" "0" "00006" "SATB2_000083" "g.(?_200239708)_(203172190_?)dup" "" "{PMID:Zarate 2018:29436146}" "" "3Mb duplication" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437900" "0" "70" "2" "200298222" "200298222" "subst" "0" "00006" "SATB2_000091" "g.200298222A>T" "" "{PMID:Zarate 2018:29436146}" "" "" "ULD domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199433499A>T" "" "likely pathogenic (dominant)" "" "0000437901" "0" "70" "2" "200213428" "200213428" "subst" "0" "00006" "SATB2_000045" "g.200213428G>A" "" "previously published in Zarate [10], listed in {PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199348705G>A" "" "likely pathogenic (dominant)" "" "0000437902" "0" "90" "2" "200193432" "200193432" "subst" "0" "00006" "SATB2_000005" "g.200193432G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "" "De novo" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic (dominant)" "" "0000437903" "0" "90" "2" "200193432" "200193432" "subst" "0" "00006" "SATB2_000005" "g.200193432G>A" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "" "" "De novo" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic (dominant)" "" "0000437904" "0" "90" "2" "200239961" "203172079" "dup" "0" "00006" "SATB2_000083" "g.(?_200239961)_(203172079_?)dup" "" "{PMID:Zarate 2018:29436146}" "" "3Mb duplication" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437905" "0" "90" "2" "200212737" "200256585" "del" "0" "00006" "SATB2_000078" "g.(?_200212737)_(200256585_?)del" "" "{PMID:Zarate 2018:29436146}" "" "44kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437906" "0" "90" "2" "200213789" "200213790" "del" "0" "00006" "SATB2_000082" "g.200213789_200213790del" "" "{PMID:Zarate 2018:29436146}" "" "808_809delCA" "" "De novo" "" "" "0" "" "" "g.199349066_199349067del" "" "pathogenic (dominant)" "" "0000437907" "0" "90" "2" "200137132" "200137132" "dup" "0" "00006" "SATB2_000064" "g.200137132dup" "" "previously published, listed in {PMID:Zarate 2018:29436146}" "" "2005_2006insC" "HOX domain" "De novo" "" "" "0" "" "" "g.199272409dup" "" "pathogenic (dominant)" "" "0000437908" "0" "90" "2" "200193432" "200193432" "subst" "0" "00006" "SATB2_000005" "g.200193432G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199328709G>A" "" "pathogenic (dominant)" "" "0000437909" "0" "70" "2" "200193521" "200193521" "subst" "0" "00006" "SATB2_000021" "g.200193521C>T" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199328798C>T" "" "likely pathogenic (dominant)" "" "0000437910" "0" "70" "2" "200213432" "200213432" "subst" "0" "00006" "SATB2_000023" "g.200213432G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "CUT1 domain; not in ExAC database" "De novo" "" "" "0" "" "" "g.199348709G>A" "" "likely pathogenic (dominant)" "" "0000437911" "0" "90" "2" "183960049" "207651502" "del" "0" "00006" "SATB2_000061" "g.(?_183960049)_(207651502_?)del" "" "{PMID:Zarate 2018:29436146}" "" "23.7Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437912" "0" "90" "2" "198971305" "203082242" "del" "0" "00006" "SATB2_000061" "g.(?_198971305)_(203082242_?)del" "" "{PMID:Zarate 2018:29436146}" "" "4.1Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437913" "0" "90" "2" "200173634" "200173634" "dup" "0" "00006" "SATB2_000069" "g.200173634dup" "" "{PMID:Zarate 2018:29436146}" "" "1592dupA" "CUT2 domain" "Germline/De novo (untested)" "" "" "0" "" "" "g.199308911dup" "" "pathogenic (dominant)" "" "0000437914" "0" "90" "2" "200213882" "200213882" "subst" "0" "00006" "SATB2_000034" "g.200213882G>A" "" "{PMID:Zarate 2018:29436146}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic (dominant)" "" "0000437915" "0" "90" "2" "200125357" "208282806" "del" "0" "00006" "SATB2_000061" "g.(?_200125357)_(208282806_?)del" "" "{PMID:Zarate 2018:29436146}" "" "8.1Mb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437916" "0" "90" "2" "200292552" "200302732" "del" "0" "00006" "SATB2_000087" "g.(?_200292552)_(200302732_?)del" "" "{PMID:Zarate 2018:29436146}" "" "10.2kb deletion" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000437917" "0" "90" "2" "200188555" "200188555" "del" "0" "00006" "SATB2_000071" "g.200188555del" "" "{PMID:Zarate 2018:29436146}" "" "1515delT" "CUT2 domain" "De novo" "" "" "0" "" "" "g.199323832del" "" "pathogenic (dominant)" "" "0000472545" "0" "99" "2" "200213882" "200213882" "subst" "0" "01847" "SATB2_000034" "g.200213882G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic" "" "0000472551" "0" "99" "2" "200213750" "200213750" "subst" "0" "01847" "SATB2_000012" "g.200213750G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199349027G>A" "" "pathogenic" "" "0000472552" "0" "77" "2" "200298150" "200298150" "subst" "0" "01847" "SATB2_000093" "g.200298150A>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000472553" "0" "99" "2" "200137380" "200137380" "subst" "0" "01847" "SATB2_000094" "g.200137380G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199272657G>A" "" "pathogenic" "" "0000472554" "0" "99" "2" "200213432" "200213432" "subst" "0" "01847" "SATB2_000023" "g.200213432G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000472555" "0" "77" "2" "200193611" "200193611" "subst" "0" "01847" "SATB2_000007" "g.200193611C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199328888C>T" "" "likely pathogenic" "" "0000472556" "0" "99" "2" "200298146" "200298164" "del" "0" "01847" "SATB2_000095" "g.200298146_200298164del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.199433423_199433441del" "" "pathogenic" "" "0000472557" "0" "99" "2" "200188571" "200188571" "del" "0" "01847" "SATB2_000096" "g.200188571del" "" "" "" "" "Mosaic in patient" "De novo" "" "" "0" "" "" "g.199323848del" "" "pathogenic" "" "0000472568" "0" "99" "2" "200213882" "200213882" "subst" "0" "01847" "SATB2_000034" "g.200213882G>A" "" "{PMID:Yamada 2019:30848049}" "" "" "" "De novo" "" "" "0" "" "" "g.199349159G>A" "" "pathogenic" "" "0000472569" "0" "99" "2" "200137032" "200137032" "del" "0" "01847" "SATB2_000097" "g.200137032del" "" "{PMID:Yamada 2019:30848049}" "" "2104delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.199272309del" "" "pathogenic" "" "0000513847" "0" "90" "2" "200137049" "200137049" "dup" "0" "02329" "SATB2_000098" "g.200137049dup" "" "" "" "SATB2(NM_001172509.2):c.2088dupC (p.E697Rfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199272326dup" "" "pathogenic" "" "0000513848" "0" "90" "2" "200173500" "200173500" "dup" "0" "02325" "SATB2_000099" "g.200173500dup" "" "" "" "SATB2(NM_001172509.2):c.1727dupC (p.E577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199308777dup" "" "pathogenic" "" "0000513849" "0" "70" "2" "200188527" "200188527" "subst" "0" "02329" "SATB2_000041" "g.200188527T>C" "" "" "" "SATB2(NM_001172509.2):c.1541A>G (p.Q514R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199323804T>C" "" "likely pathogenic" "" "0000513850" "0" "90" "2" "200188571" "200188571" "del" "0" "02327" "SATB2_000100" "g.200188571del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199323848del" "" "pathogenic" "" "0000513851" "0" "70" "2" "200188594" "200188594" "subst" "0" "02327" "SATB2_000101" "g.200188594G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199323871G>A" "" "likely pathogenic" "" "0000513853" "0" "90" "2" "200193432" "200193432" "subst" "0" "02327" "SATB2_000005" "g.200193432G>A" "" "" "" "SATB2(NM_001172509.1):c.1375C>T (p.(Arg459*)), SATB2(NM_001172509.2):c.1375C>T (p.R459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199328709G>A" "" "pathogenic" "" "0000513854" "0" "90" "2" "200193606" "200193606" "subst" "0" "01804" "SATB2_000103" "g.200193606C>T" "" "" "" "SATB2(NM_015265.3):c.1201G>A (p.(Glu401Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199328883C>T" "" "pathogenic" "" "0000513855" "0" "70" "2" "200193611" "200193611" "subst" "0" "02327" "SATB2_000043" "g.200193611C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199328888C>A" "" "likely pathogenic" "" "0000513856" "0" "30" "2" "200213419" "200213419" "subst" "1.43112E-5" "01804" "SATB2_000104" "g.200213419T>C" "" "" "" "SATB2(NM_001172509.1):c.1173+5A>G (p.?), SATB2(NM_001172509.2):c.1173+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199348696T>C" "" "likely benign" "" "0000513857" "0" "50" "2" "200213486" "200213486" "subst" "0" "02329" "SATB2_000105" "g.200213486C>T" "" "" "" "SATB2(NM_001172509.2):c.1111G>A (p.E371K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199348763C>T" "" "VUS" "" "0000513859" "0" "90" "2" "200213882" "200213882" "subst" "0" "02325" "SATB2_000034" "g.200213882G>A" "" "" "" "SATB2(NM_001172509.2):c.715C>T (p.R239*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199349159G>A" "" "pathogenic" "" "0000513860" "0" "30" "2" "200320826" "200320826" "subst" "0" "01804" "SATB2_000107" "g.200320826A>G" "" "" "" "SATB2(NM_001172509.1):c.-59-7T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199456103A>G" "" "likely benign" "" "0000607376" "0" "90" "2" "200193522" "200193522" "subst" "0" "01943" "SATB2_000022" "g.200193522G>A" "" "" "" "SATB2(NM_001172509.2):c.1285C>T (p.R429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199328799G>A" "" "pathogenic" "" "0000607377" "0" "90" "2" "200298132" "200298132" "dup" "0" "02327" "SATB2_000108" "g.200298132dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199433409dup" "" "pathogenic" "" "0000650386" "1" "90" "2" "200213750" "200213750" "subst" "0" "03575" "SATB2_000012" "g.200213750G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797044874}" "Germline" "" "rs797044874" "0" "" "" "g.199349027G>A" "" "pathogenic" "" "0000654486" "0" "30" "2" "200137318" "200137318" "subst" "0.00190318" "02326" "SATB2_000109" "g.200137318C>A" "" "" "" "SATB2(NM_001172509.2):c.1818G>T (p.P606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.199272595C>A" "" "likely benign" "" "0000676437" "0" "30" "2" "200213419" "200213419" "subst" "1.43112E-5" "02325" "SATB2_000104" "g.200213419T>C" "" "" "" "SATB2(NM_001172509.1):c.1173+5A>G (p.?), SATB2(NM_001172509.2):c.1173+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687749" "0" "90" "2" "200245134" "200245134" "subst" "0" "01807" "SATB2_000110" "g.200245134T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000718364" "0" "90" "2" "200193522" "200193522" "subst" "0" "02329" "SATB2_000022" "g.200193522G>A" "" "" "" "SATB2(NM_001172509.2):c.1285C>T (p.R429*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718365" "0" "70" "2" "200193611" "200193611" "subst" "0" "02329" "SATB2_000007" "g.200193611C>T" "" "" "" "SATB2(NM_001172509.2):c.1196G>A (p.R399H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000718366" "0" "90" "2" "200213779" "200213780" "del" "0" "02329" "SATB2_000106" "g.200213779_200213780del" "" "" "" "SATB2(NM_001172509.2):c.819_820delCA (p.H273Qfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718367" "0" "90" "2" "200233370" "200233370" "subst" "0" "02329" "SATB2_000025" "g.200233370G>A" "" "" "" "SATB2(NM_001172509.2):c.658C>T (p.Q220*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718368" "0" "90" "2" "200298060" "200298060" "subst" "0" "02329" "SATB2_000027" "g.200298060C>T" "" "" "" "SATB2(NM_001172509.2):c.346+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800260" "0" "50" "2" "200213852" "200213852" "subst" "0" "02325" "SATB2_000111" "g.200213852C>A" "" "" "" "SATB2(NM_015265.4):c.745G>T (p.G249C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823173" "0" "70" "2" "200233328" "200233328" "subst" "0" "01164" "SATB2_000112" "g.200233328C>T" "" "" "" "" "ACMG: PS2, PM2_SUP, PP3; confirmed de novo in trio; last nucleotide of exon 7, spliceAI predicts donor loss (0,96)" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000849640" "0" "50" "2" "200213431" "200213431" "subst" "0" "01943" "SATB2_000114" "g.200213431C>T" "" "" "" "SATB2(NM_001172509.2):c.1166G>A (p.R389H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858228" "0" "10" "2" "200173312" "200173312" "subst" "0" "01943" "SATB2_000113" "g.200173312T>C" "" "" "" "SATB2(NM_001172509.2):c.1740+171A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858229" "0" "10" "2" "200173684" "200173684" "subst" "0.985488" "01943" "SATB2_000020" "g.200173684T>G" "" "" "" "SATB2(NM_001172509.2):c.1543-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858230" "0" "10" "2" "200244618" "200244618" "del" "0" "01943" "SATB2_000115" "g.200244618del" "" "" "" "SATB2(NM_001172509.2):c.597+481delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858231" "0" "10" "2" "200244917" "200244917" "subst" "0" "01943" "SATB2_000116" "g.200244917A>G" "" "" "" "SATB2(NM_001172509.2):c.597+170T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858232" "0" "10" "2" "200244975" "200244975" "subst" "0" "01943" "SATB2_000117" "g.200244975A>C" "" "" "" "SATB2(NM_001172509.2):c.597+112T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858233" "0" "10" "2" "200245245" "200245245" "subst" "0.666757" "01943" "SATB2_000001" "g.200245245C>G" "" "" "" "SATB2(NM_001172509.2):c.474-35G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858234" "0" "10" "2" "200262867" "200262867" "subst" "0" "01943" "SATB2_000118" "g.200262867A>G" "" "" "" "SATB2(NM_001172509.2):c.347-16324T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858235" "0" "10" "2" "200298313" "200298313" "subst" "0" "01943" "SATB2_000119" "g.200298313A>G" "" "" "" "SATB2(NM_001172509.2):c.170-76T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000884670" "0" "90" "2" "200213432" "200213432" "subst" "0" "02329" "SATB2_000023" "g.200213432G>A" "" "" "" "SATB2(NM_001172509.2):c.1165C>T (p.R389C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000884671" "0" "50" "2" "200213840" "200213840" "subst" "1.21922E-5" "02325" "SATB2_000120" "g.200213840T>C" "" "" "" "SATB2(NM_015265.4):c.757A>G (p.M253V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911500" "0" "70" "2" "200193612" "200193612" "subst" "0" "02327" "SATB2_000121" "g.200193612G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923554" "0" "50" "2" "200233362" "200233362" "subst" "0" "02327" "SATB2_000122" "g.200233362A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947673" "0" "30" "2" "200137048" "200137048" "subst" "0.000231805" "02326" "SATB2_000123" "g.200137048G>A" "" "" "" "SATB2(NM_015265.4):c.2088C>T (p.T696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947674" "0" "30" "2" "200320611" "200320611" "subst" "0" "01804" "SATB2_000124" "g.200320611G>T" "" "" "" "SATB2(NM_001172509.1):c.150C>A (p.(Ala50=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961789" "0" "90" "2" "200246521" "200246521" "subst" "0" "02327" "SATB2_000125" "g.200246521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000961790" "0" "50" "2" "200320649" "200320649" "subst" "0" "02325" "SATB2_000126" "g.200320649C>T" "" "" "" "SATB2(NM_015265.4):c.112G>A (p.G38S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974849" "0" "30" "2" "200171217" "200171217" "subst" "0" "01804" "SATB2_000127" "g.200171217T>A" "" "" "" "SATB2(NM_001172509.2):c.1740+2266A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974850" "0" "50" "2" "200213767" "200213767" "subst" "0" "01804" "SATB2_000128" "g.200213767T>A" "" "" "" "SATB2(NM_001172509.2):c.830A>T (p.(His277Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974851" "0" "30" "2" "200269810" "200269810" "subst" "0" "01804" "SATB2_000129" "g.200269810G>C" "" "" "" "SATB2(NM_001172509.2):c.347-23267C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992359" "0" "30" "2" "200137302" "200137302" "subst" "0" "01804" "SATB2_000130" "g.200137302C>T" "" "" "" "SATB2(NM_001172509.1):c.1834G>A (p.(Ala612Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992360" "0" "70" "2" "200193432" "200193432" "subst" "0" "01804" "SATB2_000005" "g.200193432G>A" "" "" "" "SATB2(NM_001172509.1):c.1375C>T (p.(Arg459*)), SATB2(NM_001172509.2):c.1375C>T (p.R459*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000992361" "0" "30" "2" "200213537" "200213537" "subst" "2.0383E-5" "01804" "SATB2_000131" "g.200213537T>C" "" "" "" "SATB2(NM_001172509.1):c.1060A>G (p.(Thr354Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017598" "0" "90" "2" "200193563" "200193563" "subst" "0" "03544" "SATB2_000132" "g.200193563A>G" "" "" "" "" "" "De novo" "-" "rs2105795469" "0" "" "" "g.199328840A>G" "{CV:1184444}" "pathogenic" "ACMG" "0001032884" "0" "30" "2" "200233443" "200233443" "dup" "0" "01804" "SATB2_000133" "g.200233443dup" "" "" "" "SATB2(NM_001172509.2):c.598-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032885" "0" "10" "2" "200298212" "200298212" "subst" "0.000203161" "01804" "SATB2_000134" "g.200298212G>A" "" "" "" "SATB2(NM_001172509.2):c.195C>T (p.(Val65=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SATB2 ## Count = 207 "{{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}}" "0000000860" "00000163" "50" "474" "-35" "474" "-35" "c.474-35G>C" "r.(=)" "p.(=)" "" "0000000861" "00000163" "50" "1741" "-213" "1741" "-213" "c.1741-213A>G" "r.(=)" "p.(=)" "" "0000040347" "00000163" "90" "929" "0" "930" "0" "c.929_930insTTGTAAGGCAAC" "r.(?)" "p.(Gln310delinsHisCysLysAlaThr)" "" "0000079357" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459*)" "" "0000079407" "00000163" "90" "593" "0" "595" "0" "c.593_595del" "r.(?)" "p.(Ser198*)" "" "0000079428" "00000163" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000079442" "00000163" "90" "1173" "2" "1173" "2" "c.1173+2T>C" "r.spl?" "p.?" "" "0000079509" "00000163" "90" "1166" "0" "1166" "0" "c.1166G>T" "r.(?)" "p.(Arg389Leu)" "" "0000079544" "00000163" "90" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Gly515Ser)" "" "0000079586" "00000163" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000130113" "00000163" "70" "1542" "1" "1542" "1" "c.1542+1G>A" "r.spl?" "p.?" "" "0000149992" "00000163" "70" "400" "0" "400" "0" "c.400del" "r.(?)" "p.(Ala134Hisfs*17)" "4" "0000149998" "00000163" "70" "482" "0" "482" "0" "c.482del" "r.(?)" "p.(Lys161Serfs*19)" "5" "0000149999" "00000163" "70" "583" "0" "583" "0" "c.583dup" "r.(?)" "p.(Cys195Leufs*14)" "5" "0000150000" "00000163" "70" "816" "0" "816" "0" "c.816del" "r.(?)" "p.(His273Thrfs*21)" "7" "0000150001" "00000163" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "7" "0000150002" "00000163" "70" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Gln419*)" "8" "0000150003" "00000163" "70" "1728" "0" "1728" "0" "c.1728del" "r.(?)" "p.(Glu577Serfs*47)" "10" "0000297905" "00000163" "10" "1543" "-4" "1543" "-4" "c.1543-4A>C" "r.spl?" "p.?" "" "0000299331" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Ter)" "" "0000299333" "00000163" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283Ter)" "" "0000301648" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Ter)" "" "0000307711" "00000163" "70" "334" "0" "334" "0" "c.334del" "r.(?)" "p.(Ala112ProfsTer6)" "" "0000307712" "00000163" "90" "895" "0" "898" "0" "c.895_898del" "r.(?)" "p.(Ser299ProfsTer8)" "" "0000328036" "00000163" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000328039" "00000163" "70" "416" "0" "416" "0" "c.416T>A" "r.(?)" "p.(Val139Glu)" "" "0000342366" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Ter)" "" "0000342815" "00000163" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000343917" "00000163" "90" "433" "0" "433" "0" "c.433del" "r.(?)" "p.(Asp145MetfsTer6)" "" "0000344158" "00000163" "50" "1903" "0" "1903" "0" "c.1903G>T" "r.(?)" "p.(Asp635Tyr)" "" "0000344595" "00000163" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169Ter)" "" "0000344906" "00000163" "50" "1719" "0" "1719" "0" "c.1719G>C" "r.(?)" "p.(Gln573His)" "" "0000347588" "00000163" "70" "1495" "0" "1495" "0" "c.1495A>T" "r.(?)" "p.(Lys499Ter)" "" "0000349497" "00000163" "30" "1216" "0" "1216" "0" "c.1216A>G" "r.(?)" "p.(Thr406Ala)" "" "0000435009" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "0000435010" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "0000435011" "00000163" "70" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000435012" "00000163" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290*)" "" "0000435013" "00000163" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290*)" "" "0000435992" "00000163" "70" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Gln330*)" "" "0000435993" "00000163" "70" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Gln333*)" "" "0000435994" "00000163" "70" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379*)" "" "0000435995" "00000163" "70" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429*)" "" "0000435996" "00000163" "70" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459*)" "" "0000435997" "00000163" "70" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(His254Tyr)" "" "0000435998" "00000163" "70" "1102" "0" "1102" "0" "c.1102G>T" "r.(?)" "p.(Val368Phe)" "" "0000436044" "00000163" "70" "1136" "0" "1136" "0" "c.1136A>C" "r.(?)" "p.(Gln379Pro)" "" "0000436045" "00000163" "70" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000436046" "00000163" "70" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000436047" "00000163" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000436082" "00000163" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000436083" "00000163" "70" "1166" "0" "1166" "0" "c.1166G>T" "r.(?)" "p.(Arg389Leu)" "" "0000436084" "00000163" "70" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Thr390Ile)" "" "0000436085" "00000163" "70" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Gly392Glu)" "" "0000436123" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000436124" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>T" "r.(?)" "p.(Arg399Leu)" "" "0000436125" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>T" "r.(?)" "p.(Arg399Leu)" "" "0000436126" "00000163" "70" "1253" "0" "1253" "0" "c.1253T>G" "r.(?)" "p.(Met418Arg)" "" "0000436127" "00000163" "70" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "" "0000436152" "00000163" "70" "1541" "0" "1541" "0" "c.1541A>G" "r.(?)" "p.(Gln514Arg)" "" "0000436153" "00000163" "70" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Arg522Cys)" "" "0000436154" "00000163" "70" "1554" "0" "1554" "0" "c.1554T>G" "r.(?)" "p.(Cys518Trp)" "" "0000436155" "00000163" "70" "1903" "0" "1903" "0" "c.1903G>T" "r.(?)" "p.(Asp635Tyr)" "" "0000436206" "00000163" "70" "9" "0" "16" "0" "c.9_16del" "r.(?)" "p.(Arg4Glufs*68)" "" "0000436207" "00000163" "70" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Ser7Lysfs*68)" "" "0000436515" "00000163" "70" "334" "0" "334" "0" "c.334del" "r.(?)" "p.(Ala112Profs*6)" "" "0000436516" "00000163" "70" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(His278Thrfs*16)" "" "0000436517" "00000163" "70" "1132" "0" "1133" "0" "c.1132_1133insAC" "r.(?)" "p.(Ser378Tyrfs*36)" "" "0000436518" "00000163" "70" "1196" "0" "1196" "0" "c.1196del" "r.(?)" "p.(Arg399Leufs*14)" "" "0000436519" "00000163" "70" "1196" "0" "1196" "0" "c.1196del" "r.(?)" "p.(Arg399Leufs*14)" "" "0000436520" "00000163" "70" "1511" "0" "1512" "0" "c.1511_1512insCAAGCCT" "r.(?)" "p.(Phe505Lysfs*10)" "" "0000436521" "00000163" "70" "1639" "0" "1642" "0" "c.1639_1642delinsTTT" "r.(?)" "p.(Leu547Phefs*77)" "" "0000436522" "00000163" "70" "1657" "0" "1657" "0" "c.1657del" "r.(?)" "p.(Asp553Metfs*71)" "" "0000436523" "00000163" "70" "473" "1" "473" "1" "c.473+1del" "r.spl" "p.?" "" "0000437846" "00000163" "90" "346" "0" "346" "0" "c.346G>C" "r.spl?" "p.(Gly116Arg)" "" "0000437847" "00000163" "90" "-817" "0" "1173" "1" "c.(?_-817)_(1173+1_1174-1)del" "r.0" "p.0" "_1_7i" "0000437848" "00000163" "90" "1945" "0" "1945" "0" "c.1945dup" "r.(?)" "p.(Ser649Phefs*40)" "11" "0000437849" "00000163" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000437850" "00000163" "90" "400" "0" "400" "0" "c.400del" "r.(?)" "p.(Ala134Hisfs*17)" "" "0000437851" "00000163" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.(?)" "p.(Gln419*)" "8" "0000437852" "00000163" "90" "1728" "0" "1728" "0" "c.1728del" "r.(?)" "p.(Glu577Serfs*47)" "10" "0000437853" "00000163" "90" "1174" "-1" "1542" "1" "c.(1173+1_1174-1)_(1542+1_1543-1)del" "r.?" "p.?" "7i_9i" "0000437854" "00000163" "90" "816" "0" "816" "0" "c.816del" "r.(?)" "p.(His273Thrfs*21)" "" "0000437855" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437856" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437857" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437858" "00000163" "70" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "8" "0000437859" "00000163" "90" "583" "0" "583" "0" "c.583dup" "r.(?)" "p.(Cys195Leufs*14)" "" "0000437860" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437861" "00000163" "70" "1964" "0" "1964" "0" "c.1964C>T" "r.(?)" "p.(Pro655Leu)" "" "0000437862" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437863" "00000163" "90" "1171" "0" "1171" "0" "c.1171C>T" "8" "p.(Gln391*)" "7" "0000437864" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437865" "00000163" "90" "-817" "0" "1740" "1" "c.(?_-817)_(1740+1_1741-1)del" "r.0" "p.0" "_1_10i" "0000437866" "00000163" "90" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "8" "0000437867" "00000163" "90" "124" "0" "124" "0" "c.124G>T" "r.(?)" "p.(Gly42*)" "2" "0000437868" "00000163" "90" "347" "-1" "4913" "0" "c.(346+1_347-1)_(*2711_?)del" "r.?" "p.?" "3i_11_" "0000437869" "00000163" "90" "2028" "0" "2028" "0" "c.2028del" "r.(?)" "p.(Glu678Serfs*18)" "" "0000437870" "00000163" "90" "390" "0" "390" "0" "c.390T>A" "r.(?)" "p.(Tyr130*)" "" "0000437871" "00000163" "90" "482" "0" "482" "0" "c.482del" "r.(?)" "p.(Lys161Serfs*19)" "" "0000437872" "00000163" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429*)" "8" "0000437873" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437874" "00000163" "70" "1157" "0" "1157" "0" "c.1157C>T" "8" "p.(Ala386Val)" "7" "0000437875" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437876" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "0000437877" "00000163" "90" "1174" "-2" "1174" "-2" "c.1174-2A>G" "r.(?)" "p.?" "7i" "0000437878" "00000163" "70" "1174" "0" "1174" "0" "c.1174G>C" "r.spl?" "p.(Gly392Arg)" "8" "0000437879" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>C" "r.(?)" "p.(Arg399Pro)" "8" "0000437880" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437881" "00000163" "90" "1495" "0" "1495" "0" "c.1495A>T" "r.(?)" "p.(Lys499*)" "9" "0000437882" "00000163" "90" "346" "0" "346" "0" "c.346G>T" "r.spl?" "p.(Gly116Ter)" "" "0000437883" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437884" "00000163" "70" "1165" "0" "1165" "0" "c.1165C>T" "8" "p.(Arg389Cys)" "7" "0000437885" "00000163" "70" "1165" "0" "1165" "0" "c.1165C>T" "8" "p.(Arg389Cys)" "7" "0000437886" "00000163" "90" "1972" "0" "1973" "0" "c.1972_1973del" "r.(?)" "p.(Thr658Hisfs*30)" "" "0000437887" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437888" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437889" "00000163" "90" "1131" "0" "1132" "0" "c.1131_1132del" "8" "p.(Ser378Profs*18)" "7" "0000437890" "00000163" "70" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "8" "0000437891" "00000163" "90" "1311" "0" "1314" "0" "c.1311_1314dup" "r.(?)" "p.(Arg439Glyfs*38)" "8" "0000437892" "00000163" "90" "1174" "-1" "1386" "1" "c.(1173+1_1174-1)_(1386+1_1387-1)del" "r.?" "p.?" "7i_8i" "0000437893" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437894" "00000163" "70" "287" "0" "287" "0" "c.287T>G" "r.(?)" "p.(Leu96Arg)" "" "0000437895" "00000163" "90" "-817" "0" "346" "1" "c.(?_-817)_(346+1_347-1)del" "r.0" "p.0" "_1_3i" "0000437896" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "8" "0000437897" "00000163" "70" "392" "0" "392" "0" "c.392T>A" "r.(?)" "p.(Val131Glu)" "" "0000437898" "00000163" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169*)" "" "0000437899" "00000163" "90" "-817" "0" "597" "1" "c.(?_-817)_(597+1_598-1)dup" "r.?" "p.?" "_1_5i" "0000437900" "00000163" "70" "185" "0" "185" "0" "c.185T>A" "r.(?)" "p.(Val62Asp)" "3" "0000437901" "00000163" "70" "1169" "0" "1169" "0" "c.1169C>T" "8" "p.(Thr390Ile)" "7" "0000437902" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459*)" "9" "0000437903" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459*)" "9" "0000437904" "00000163" "90" "-817" "0" "597" "1" "c.(?_-817)_(597+1_598-1)dup" "r.?" "p.?" "_1_5i" "0000437905" "00000163" "90" "347" "-1" "1173" "1" "c.(346+1_347-1)_(1173+1_1174-1)del" "r.?" "p.?" "3i_7i" "0000437906" "00000163" "90" "808" "0" "809" "0" "c.808_809del" "r.(?)" "p.(Gln270Valfs*33)" "" "0000437907" "00000163" "90" "2005" "0" "2005" "0" "c.2005dup" "r.(?)" "p.(His669Profs*20)" "" "0000437908" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459*)" "9" "0000437909" "00000163" "70" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.(Arg429Gln)" "8" "0000437910" "00000163" "70" "1165" "0" "1165" "0" "c.1165C>T" "8" "p.(Arg389Cys)" "7" "0000437911" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437912" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437913" "00000163" "90" "1592" "0" "1592" "0" "c.1592dup" "r.(?)" "p.(Asn531Lysfs*21)" "10" "0000437914" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239*)" "" "0000437915" "00000163" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_11_" "0000437916" "00000163" "90" "170" "-1" "346" "1" "c.(169+1_170-1)_(346+1_347-1)del" "r.?" "p.?" "2i_3i" "0000437917" "00000163" "90" "1515" "0" "1515" "0" "c.1515del" "r.(?)" "p.(Phe505Leufs*41)" "9" "0000472545" "00000163" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.Arg239*" "" "0000472551" "00000163" "99" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.Arg283*" "" "0000472552" "00000163" "77" "257" "0" "257" "0" "c.257T>G" "r.(?)" "p.(Leu86Arg)" "" "0000472553" "00000163" "99" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Gln586*)" "" "0000472554" "00000163" "99" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000472555" "00000163" "77" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000472556" "00000163" "99" "245" "0" "263" "0" "c.245_263del" "r.0?" "p.(Ala82Glyfs*30)" "" "0000472557" "00000163" "99" "1498" "0" "1498" "0" "c.1498del" "r.0?" "p.(Val500Cysfs*46)" "" "0000472568" "00000163" "99" "715" "0" "715" "0" "c.715C>T" "r.(0?)" "p.(Arg239*)" "" "0000472569" "00000163" "99" "2104" "0" "2104" "0" "c.2104del" "r.(0?)" "p.(Asp702Thrfs*38)" "" "0000513847" "00000163" "90" "2088" "0" "2088" "0" "c.2088dup" "r.(?)" "p.(Glu697ArgfsTer20)" "" "0000513848" "00000163" "90" "1727" "0" "1727" "0" "c.1727dup" "r.(?)" "p.(Glu577Ter)" "" "0000513849" "00000163" "70" "1541" "0" "1541" "0" "c.1541A>G" "r.(?)" "p.(Gln514Arg)" "" "0000513850" "00000163" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Val500CysfsTer46)" "" "0000513851" "00000163" "70" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Gln492Ter)" "" "0000513853" "00000163" "90" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Ter)" "" "0000513854" "00000163" "90" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Glu401Lys)" "" "0000513855" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>T" "r.(?)" "p.(Arg399Leu)" "" "0000513856" "00000163" "30" "1173" "5" "1173" "5" "c.1173+5A>G" "r.spl?" "p.?" "" "0000513857" "00000163" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Glu371Lys)" "" "0000513859" "00000163" "90" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Arg239Ter)" "" "0000513860" "00000163" "30" "-59" "-7" "-59" "-7" "c.-59-7T>C" "r.(=)" "p.(=)" "" "0000607376" "00000163" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Ter)" "" "0000607377" "00000163" "90" "279" "0" "279" "0" "c.279dup" "r.(?)" "p.(Ser94Ter)" "" "0000650386" "00000163" "90" "847" "0" "847" "0" "c.847C>T" "r.(?)" "p.(Arg283*)" "" "0000654486" "00000163" "30" "1818" "0" "1818" "0" "c.1818G>T" "r.(?)" "p.(Pro606=)" "" "0000676437" "00000163" "30" "1173" "5" "1173" "5" "c.1173+5A>G" "r.spl?" "p.?" "" "0000687749" "00000163" "90" "550" "0" "550" "0" "c.550A>T" "r.(?)" "p.(Lys184Ter)" "" "0000718364" "00000163" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Ter)" "" "0000718365" "00000163" "70" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000718366" "00000163" "90" "819" "0" "820" "0" "c.819_820del" "r.(?)" "p.(His273GlnfsTer30)" "" "0000718367" "00000163" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Gln220Ter)" "" "0000718368" "00000163" "90" "346" "1" "346" "1" "c.346+1G>A" "r.spl?" "p.?" "" "0000800260" "00000163" "50" "745" "0" "745" "0" "c.745G>T" "r.(?)" "p.(Gly249Cys)" "" "0000823173" "00000163" "70" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Met)" "7" "0000849640" "00000163" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389His)" "" "0000858228" "00000163" "10" "1740" "171" "1740" "171" "c.1740+171A>G" "r.(=)" "p.(=)" "" "0000858229" "00000163" "10" "1543" "-4" "1543" "-4" "c.1543-4A>C" "r.spl?" "p.?" "" "0000858230" "00000163" "10" "597" "481" "597" "481" "c.597+481del" "r.(=)" "p.(=)" "" "0000858231" "00000163" "10" "597" "170" "597" "170" "c.597+170T>C" "r.(=)" "p.(=)" "" "0000858232" "00000163" "10" "597" "112" "597" "112" "c.597+112T>G" "r.(=)" "p.(=)" "" "0000858233" "00000163" "10" "474" "-35" "474" "-35" "c.474-35G>C" "r.(=)" "p.(=)" "" "0000858234" "00000163" "10" "347" "-16324" "347" "-16324" "c.347-16324T>C" "r.(=)" "p.(=)" "" "0000858235" "00000163" "10" "170" "-76" "170" "-76" "c.170-76T>C" "r.(=)" "p.(=)" "" "0000884670" "00000163" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Arg389Cys)" "" "0000884671" "00000163" "50" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Met253Val)" "" "0000911500" "00000163" "70" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Cys)" "" "0000923554" "00000163" "50" "666" "0" "666" "0" "c.666T>A" "r.(?)" "p.(Phe222Leu)" "" "0000947673" "00000163" "30" "2088" "0" "2088" "0" "c.2088C>T" "r.(?)" "p.(=)" "" "0000947674" "00000163" "30" "150" "0" "150" "0" "c.150C>A" "r.(?)" "p.(=)" "" "0000961789" "00000163" "90" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Trp123*)" "" "0000961790" "00000163" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Gly38Ser)" "" "0000974849" "00000163" "30" "1740" "2266" "1740" "2266" "c.1740+2266A>T" "r.(=)" "p.(=)" "" "0000974850" "00000163" "50" "830" "0" "830" "0" "c.830A>T" "r.(?)" "p.(His277Leu)" "" "0000974851" "00000163" "30" "347" "-23267" "347" "-23267" "c.347-23267C>G" "r.(=)" "p.(=)" "" "0000992359" "00000163" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Ala612Thr)" "" "0000992360" "00000163" "70" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Ter)" "" "0000992361" "00000163" "30" "1060" "0" "1060" "0" "c.1060A>G" "r.(?)" "p.(Thr354Ala)" "" "0001017598" "00000163" "90" "1244" "0" "1244" "0" "c.1244T>C" "r.(?)" "p.(Leu415Pro)" "8" "0001032884" "00000163" "30" "598" "-4" "598" "-4" "c.598-4dup" "r.spl?" "p.?" "" "0001032885" "00000163" "10" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 144 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000860" "0000000029" "0000000861" "0000019881" "0000040347" "0000050377" "0000079357" "0000050427" "0000079407" "0000050448" "0000079428" "0000050462" "0000079442" "0000050529" "0000079509" "0000050564" "0000079544" "0000050606" "0000079586" "0000081027" "0000130113" "0000091822" "0000149992" "0000091827" "0000149998" "0000091828" "0000149999" "0000091829" "0000150000" "0000091830" "0000150001" "0000091831" "0000150002" "0000091832" "0000150003" "0000205611" "0000435009" "0000205612" "0000435010" "0000205613" "0000435011" "0000205614" "0000435012" "0000205615" "0000435013" "0000206419" "0000435992" "0000206420" "0000435993" "0000206421" "0000435994" "0000206422" "0000435995" "0000206423" "0000435996" "0000206424" "0000435997" "0000206425" "0000435998" "0000206426" "0000436044" "0000206450" "0000436045" "0000206451" "0000436046" "0000206452" "0000436047" "0000206476" "0000436082" "0000206477" "0000436083" "0000206478" "0000436084" "0000206479" "0000436085" "0000206515" "0000436123" "0000206516" "0000436124" "0000206517" "0000436125" "0000206518" "0000436126" "0000206519" "0000436127" "0000206544" "0000436152" "0000206545" "0000436153" "0000206546" "0000436154" "0000206547" "0000436155" "0000206548" "0000436206" "0000206574" "0000436207" "0000206876" "0000436515" "0000206877" "0000436516" "0000206878" "0000436517" "0000206879" "0000436518" "0000206879" "0000436519" "0000206880" "0000436520" "0000206881" "0000436521" "0000206882" "0000436522" "0000206883" "0000436523" "0000208050" "0000437846" "0000208051" "0000437847" "0000208052" "0000437848" "0000208053" "0000437849" "0000208054" "0000437850" "0000208055" "0000437851" "0000208056" "0000437852" "0000208057" "0000437853" "0000208058" "0000437854" "0000208059" "0000437855" "0000208060" "0000437856" "0000208061" "0000437857" "0000208062" "0000437858" "0000208063" "0000437859" "0000208064" "0000437860" "0000208065" "0000437861" "0000208066" "0000437862" "0000208067" "0000437863" "0000208068" "0000437864" "0000208069" "0000437865" "0000208070" "0000437866" "0000208071" "0000437867" "0000208072" "0000437868" "0000208073" "0000437869" "0000208074" "0000437870" "0000208075" "0000437871" "0000208076" "0000437872" "0000208077" "0000437873" "0000208078" "0000437874" "0000208079" "0000437875" "0000208080" "0000437876" "0000208081" "0000437877" "0000208082" "0000437878" "0000208083" "0000437879" "0000208084" "0000437880" "0000208085" "0000437881" "0000208086" "0000437882" "0000208087" "0000437883" "0000208088" "0000437884" "0000208089" "0000437885" "0000208090" "0000437886" "0000208091" "0000437887" "0000208092" "0000437888" "0000208093" "0000437889" "0000208094" "0000437890" "0000208095" "0000437891" "0000208096" "0000437892" "0000208097" "0000437893" "0000208098" "0000437894" "0000208099" "0000437895" "0000208100" "0000437896" "0000208101" "0000437897" "0000208102" "0000437898" "0000208103" "0000437899" "0000208104" "0000437900" "0000208105" "0000437901" "0000208106" "0000437902" "0000208107" "0000437903" "0000208108" "0000437904" "0000208109" "0000437905" "0000208110" "0000437906" "0000208111" "0000437907" "0000208112" "0000437908" "0000208113" "0000437909" "0000208114" "0000437910" "0000208115" "0000437911" "0000208116" "0000437912" "0000208117" "0000437913" "0000208118" "0000437914" "0000208119" "0000437915" "0000208120" "0000437916" "0000208121" "0000437917" "0000230871" "0000472545" "0000230873" "0000472551" "0000230874" "0000472552" "0000230875" "0000472553" "0000230876" "0000472554" "0000230877" "0000472555" "0000230878" "0000472556" "0000230879" "0000472557" "0000230890" "0000472568" "0000230891" "0000472569" "0000293697" "0000650386" "0000312193" "0000687749" "0000392739" "0000823173" "0000459543" "0001017598"