### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NIPBL) # 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}}" "NIPBL" "Nipped-B homolog (Drosophila)" "5" "p13.2" "unknown" "NG_006987.2" "UD_132118932916" "{PMID:Oliveira 2010:20824775}" "https://www.LOVD.nl/NIPBL" "" "1" "28862" "25836" "608667" "1" "1" "1" "1" "Establishment of this gene variant database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/NIPBL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-10-27 00:00:00" "00006" "2021-04-22 17:34:18" "00000" "2023-11-27 17:35:39" ## 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}}" "00024041" "NIPBL" "transcript variant A" "002" "NM_133433.3" "" "NP_597677.2" "" "" "" "-499" "9342" "8415" "36876861" "37065921" "00006" "2015-06-26 14:05:27" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00610" "CDLS1" "Cornelia de Lange syndrome, type 1 (CDLS-1)" "AD" "122470" "" "cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-31 23:37:05" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NIPBL" "00139" "NIPBL" "00610" "NIPBL" "04281" ## Individuals ## Do not remove or alter this header ## ## Count = 406 "{{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}}" "00050505" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00102083" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">14y" "" "" "" "" "P12" "00179552" "" "" "" "1" "" "01318" "" "" "M" "" "Portugal" "" "0" "" "" "white" "" "00179553" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "African" "" "00179554" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "0d" "0" "" "" "white" "" "00179555" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00179556" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "white" "" "00179557" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "white" "" "00179558" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00179559" "" "" "" "1" "" "01318" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00179560" "" "" "" "1" "" "01318" "" "" "M" "" "Portugal" "" "0" "" "" "white" "" "00179561" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "" "0" "" "" "white" "" "00179562" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "white" "" "00179563" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "sibling affected" "F" "" "Portugal" "" "0" "" "" "" "" "00179564" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "sibling affected" "M" "" "Portugal" "" "0" "" "" "" "" "00179565" "" "" "" "1" "" "01318" "{PMID:Lalatta 2007:17413424}" "" "M" "" "Italy" "" "0" "" "" "" "case 1" "00179566" "" "" "" "1" "" "01318" "{PMID:Lalatta 2007:17413424}" "" "M" "" "Italy" "" "0" "" "" "" "case 2" "00179567" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "half-siblings affected" "M" "" "" "" "0" "" "" "" "Family II" "00179568" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "half-siblings affected" "F" "" "" "" "0" "" "" "" "Family II" "00179569" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "half-siblings affected" "M" "" "" "" "0" "" "" "" "Family II" "00179570" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179571" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P29" "00179572" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}" "" "F" "" "" "" "0" "" "" "" "" "00179573" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "F" "" "Sweden" "" "0" "" "" "" "case 1" "00179574" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}" "" "M" "" "" "" "0" "" "" "" "" "00179575" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}" "" "F" "" "" "" "0" "" "" "" "" "00179576" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P13" "00179577" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P18" "00179578" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P16" "00179579" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "F" "" "Sweden" "" "0" "" "" "" "case 2" "00179580" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "M" "" "Sweden" "" "0" "" "" "" "case 3" "00179581" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "M" "" "Sweden" "" "0" "" "" "" "case 4" "00179582" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P11" "00179583" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "F" "" "Romania" "" "0" "" "" "" "case 5" "00179584" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "M" "" "Turkey" "" "0" "" "" "" "case 6" "00179585" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "sibling affected" "M" "" "" "" "0" "" "" "" "Family XXI" "00179586" "" "" "" "1" "" "01318" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "sibling affected" "F" "" "" "" "0" "" "" "" "Family XXI" "00179587" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P3" "00179588" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P2" "00179589" "" "" "" "1" "" "01318" "{PMID:Schoumans 2007:17106445}" "" "F" "" "Sweden" "" "0" "" "" "" "case 7" "00179590" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P37" "00179591" "" "" "" "1" "" "01318" "{PMID:Tonkin 2004:15146185}" "" "" "" "" "" "0" "" "" "" "P27" "00179592" "" "" "" "1" "" "01318" "{PMID:Niu 2006:16958143}" "sibling affected" "M" "" "China" "1y" "0" "" "" "Asian" "case 1" "00179593" "" "" "" "1" "" "01318" "{PMID:Niu 2006:16958143}" "sibling affected" "F" "" "China" "" "0" "" "" "Asian" "case 2" "00179594" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179595" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179596" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "patient" "00179597" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179598" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "patient" "00179599" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179600" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179601" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179602" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179603" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179604" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179605" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179606" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179607" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "African" "" "00179608" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179609" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179610" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179611" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179612" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179613" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179614" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179615" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179616" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179617" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179618" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179619" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179620" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "patient" "00179621" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179622" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179623" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179624" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "sibling affected" "M" "" "" "" "0" "" "" "" "" "00179625" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "sibling affected" "M" "" "" "" "0" "" "" "" "" "00179626" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179627" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179628" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179629" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "Affected sister (sample not available)" "M" "" "" "" "0" "" "" "" "patient" "00179630" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179631" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179632" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179633" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "F" "" "" "" "0" "" "" "" "" "00179634" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179635" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179636" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179637" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "sibling affected" "" "" "" "" "0" "" "" "" "patient" "00179638" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "sibling affected" "" "" "" "" "0" "" "" "" "patient" "00179639" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "M" "" "" "" "0" "" "" "" "" "00179640" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179641" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179642" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179643" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179644" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179645" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179646" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179647" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "brother affected" "" "" "" "" "0" "" "" "" "" "00179648" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "sister affected" "" "" "" "" "0" "" "" "" "patient" "00179649" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179650" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "patient" "00179651" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}; {PMID:Borck 2006:16799922}" "" "F" "" "France" "" "0" "" "" "Algerian" "Case 8; Patient1" "00179652" "" "" "" "1" "" "01318" "{PMID:Borck 2006:16799922}" "" "M" "" "Algeria" "" "0" "" "" "" "patient2" "00179653" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}" "" "M" "" "France" "" "0" "" "" "western european" "P6" "00179654" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}" "" "F" "" "France" "" "0" "" "" "western european" "P7" "00179655" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}" "brother affected" "F" "" "France" "" "0" "" "" "western european" "P3" "00179656" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}" "" "F" "" "France" "" "0" "" "" "western european" "P4" "00179657" "" "" "" "1" "" "01318" "{PMID:Borck 2004:15591270}" "" "M" "" "France" "" "0" "" "" "western european" "P5" "00179658" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "" "CdL2" "00179659" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "" "CdL4" "00179660" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "" "CdL10" "00179661" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "" "CdL15" "00179662" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "Asian" "patient" "00179663" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "Japan" "" "0" "" "" "Asian" "patient" "00179664" "" "" "" "1" "" "01318" "{PMID:Miyake 2005:15723327}" "" "" "" "" "" "0" "" "" "" "patient" "00179665" "" "" "" "1" "" "01318" "{PMID:Kaur 2005:16100726}" "" "F" "" "" "" "0" "" "" "" "" "00179666" "" "" "" "1" "" "01318" "{PMID:Kaur 2005:16100726}" "" "M" "" "" "" "0" "" "" "" "" "00179667" "" "" "" "1" "" "01318" "{PMID: Bhuiyan 2007:16236812}" "" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "patient" "00179668" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179669" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179670" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179671" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179672" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179673" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179674" "" "" "" "1" "" "01318" "{PMID:Borck 2007:17221863}" "" "" "" "" "" "0" "" "" "" "patient" "00179675" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179676" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179677" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179678" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179679" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179680" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179681" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179682" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179683" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179684" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179685" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179686" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179687" "" "" "" "1" "" "01318" "{PMID:Yan 2006:16770807}" "" "" "" "Poland" "" "0" "" "" "" "patient" "00179688" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179689" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179690" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179691" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179692" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179693" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179694" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179695" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179696" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179697" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179698" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179699" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179700" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179701" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179702" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179703" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179704" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179705" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179706" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179707" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179708" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179709" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179710" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179711" "" "" "" "1" "" "01318" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00179712" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P34" "00179713" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P48" "00179714" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P6" "00179715" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P49" "00179716" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P18" "00179717" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P17" "00179718" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P20" "00179719" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P10" "00179720" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P47" "00179721" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P46" "00179722" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P7" "00179723" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P38" "00179724" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P11" "00179725" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P16" "00179726" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P5" "00179727" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P2" "00179728" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P51" "00179729" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P50" "00179730" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P15" "00179731" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P19" "00179732" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P27" "00179733" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "M" "" "Italy" "" "0" "" "" "" "P40" "00179734" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P43" "00179735" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P42" "00179736" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P61" "00179737" "" "" "" "1" "" "01318" "{PMID:Selicorni 2007:17661813}" "" "F" "" "Italy" "" "0" "" "" "" "P69" "00179738" "" "" "" "1" "" "01318" "{PMID: Bhuiyan 2006b:16865217}" "" "M" "" "Malaysia" "" "0" "" "" "Asian" "patient" "00179739" "" "" "" "1" "" "01318" "{PMID: Chong 2009:19242925}" "" "F" "" "" "" "0" "" "" "" "case 1" "00179740" "" "" "" "1" "" "01318" "{PMID: Chong 2009:19242925}" "" "F" "" "" "" "0" "" "" "" "case 2" "00179741" "" "" "" "1" "" "01318" "{PMID: Chong 2009:19242925}" "" "F" "" "" "" "0" "" "" "" "case 3" "00179742" "" "" "" "1" "" "01318" "{PMID:Gillis 2004:15318302}" "" "" "" "" "" "0" "" "" "" "" "00179743" "" "" "" "1" "" "01067" "{PMID:Vrouwe 2007:17468178}" "" "" "" "" "" "0" "" "" "" "" "00179744" "" "" "" "1" "" "01067" "{PMID:Vrouwe 2007:17468178}" "" "" "" "" "" "0" "" "" "" "" "00179745" "" "" "" "1" "" "01067" "{PMID:Vrouwe 2007:17468178}" "" "" "" "" "" "0" "" "" "" "" "00179746" "" "" "" "1" "" "01318" "{PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "" "0" "" "" "white" "" "00179747" "" "" "" "1" "" "01318" "" "" "F" "" "Portugal" "" "0" "" "" "white" "" "00179748" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179749" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179750" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Finland" "" "0" "" "" "" "" "00179751" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179752" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Malaysia" "" "0" "" "" "" "" "00179753" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179754" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "England" "" "0" "" "" "" "" "00179755" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Canada" "" "0" "" "" "" "" "00179756" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Finland" "" "0" "" "" "" "" "00179757" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Canada" "" "0" "" "" "" "" "00179758" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179759" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Scotland" "" "0" "" "" "" "" "00179760" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179761" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "England" "" "0" "" "" "" "" "00179762" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Denmark" "" "0" "" "" "" "" "00179763" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Denmark" "" "0" "" "" "" "" "00179764" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179765" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "England" "" "0" "" "" "" "" "00179766" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Wales" "" "0" "" "" "" "" "00179767" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179768" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Sweden" "" "0" "" "" "" "" "00179769" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179770" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "England" "" "0" "" "" "" "" "00179771" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "" "" "0" "" "" "" "" "00179772" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "England" "" "0" "" "" "" "" "00179773" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Canada" "" "0" "" "" "" "" "00179774" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "" "" "England" "" "0" "" "" "" "" "00179775" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "" "" "0" "" "" "" "" "00179776" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179777" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179778" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Norway" "" "0" "" "" "" "" "00179779" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Sweden" "" "0" "" "" "" "" "00179780" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179781" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179782" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179783" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Sweden" "" "0" "" "" "" "" "00179784" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Canada" "" "0" "" "" "" "" "00179785" "" "" "" "1" "" "01318" "{PMID:Wilmink 2009:19816032}" "" "F" "" "Netherlands" "<0d" "0" "" "" "" "" "00179786" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00179787" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00179788" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179789" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179790" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Austria" "" "0" "" "" "" "" "00179791" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Portugal" "" "0" "" "" "" "" "00179792" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Portugal" "" "0" "" "" "" "" "00179793" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "England" "" "0" "" "" "" "" "00179794" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179795" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Scotland" "" "0" "" "" "" "" "00179796" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "affected twin sisters" "F" "" "Ireland" "" "0" "" "" "" "" "00179797" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "F" "" "Finland" "" "0" "" "" "" "" "00179798" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179799" "" "" "" "1" "" "01067" "Redeker; {PMID:Oliveira 2010:20824775}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179800" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179801" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179802" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" ">6y" "0" "" "" "" "" "00179803" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" ">4y" "0" "" "" "white" "" "00179804" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179805" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C26" "00179806" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C20" "00179807" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C5" "00179808" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "M" "" "Spain" "" "0" "" "" "" "C8" "00179809" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C14" "00179810" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "M" "" "Spain" "" "0" "" "" "" "C10" "00179811" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Morocco" "" "0" "" "" "" "C18" "00179812" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "M" "" "Spain" "" "0" "" "" "" "C21" "00179813" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C25" "00179814" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "M" "" "Spain" "" "0" "" "" "" "C28" "00179815" "" "" "" "1" "" "01318" "{PMID: Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "C29" "00179816" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179817" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179818" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179819" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179820" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179821" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179822" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179823" "" "" "" "1" "" "00006" "ESHG2010 Braunholz P11.015" "" "" "" "Germany" "" "0" "" "" "" "" "00179824" "" "" "" "1" "" "01318" "" "" "M" "" "Portugal" ">3y" "0" "" "" "white" "" "00179825" "" "" "" "1" "" "01320" "{PMID:Ratajska 2010:20727427}" "" "F" "" "" "" "0" "" "" "" "" "00179826" "" "" "" "1" "" "01320" "{PMID:Castronovo 2010:20331678}" "" "M" "" "" "" "0" "" "" "" "" "00179827" "" "" "" "1" "" "01320" "{PMID: Hosokawa 2010:20156239}" "" "F" "" "Japan" "" "0" "" "" "" "" "00179828" "" "" "" "1" "" "00006" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00179829" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Scotland" "" "0" "" "" "" "" "00179830" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179831" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Denmark" "" "0" "" "" "" "" "00179832" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179833" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Australia" "" "0" "" "" "" "" "00179834" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Hungary" "" "0" "" "" "" "" "00179835" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179836" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179837" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "Brother affected" "M" "" "" "" "0" "" "" "" "" "00179838" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179839" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "M" "" "" "" "0" "" "" "" "" "00179840" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "M" "" "" "" "0" "" "" "" "" "00179841" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179842" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179843" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179844" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "M" "" "" "" "0" "" "" "" "" "00179845" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "M" "" "" "" "0" "" "" "" "" "00179846" "" "" "" "1" "" "00503" "{PMID:Kline 2007:17640042}" "" "F" "" "" "" "0" "" "" "" "" "00179847" "" "" "" "1" "" "00503" "{PMID: Weichert 2011:21338332}" "" "F" "" "" "<0d" "0" "" "" "" "fetus1" "00179848" "" "" "" "1" "" "00503" "{PMID: Weichert 2011:21338332}" "mother with previous affected fetus (13555)" "M" "" "" "<0d" "0" "" "" "" "fetus2" "00179849" "" "" "" "1" "" "01320" "{PMID: Park, 2010:20124326}" "" "M" "" "Korea" "" "0" "" "" "" "patient 1" "00179850" "" "" "" "1" "" "01320" "{PMID: Park, 2010:20124326}" "" "M" "" "Korea" ">6y" "0" "" "" "" "patient 2" "00179851" "" "" "" "1" "" "01320" "{PMID: Park, 2010:20124326}" "" "F" "" "Korea" ">10y" "0" "" "" "" "patient 3" "00179852" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "New Zealand" "" "0" "" "" "" "" "00179853" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179854" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Finland" "" "0" "" "" "" "" "00179855" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Denmark" "" "0" "" "" "" "" "00179856" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Belgium" "" "0" "" "" "" "" "00179857" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Canada" "" "0" "" "" "" "" "00179858" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Belgium" "" "0" "" "" "" "" "00179859" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Slovenia" "" "0" "" "" "" "" "00179860" "" "" "" "1" "" "01320" "{PMID: Park 2010:21165303}" "" "M" "" "Korea" "" "0" "" "" "" "patient" "00179861" "" "" "" "1" "" "01320" "{PMID: Galehdari 2011:21707975}" "" "M" "" "Iran" "" "0" "" "" "" "patient" "00179862" "" "" "" "1" "" "01320" "{PMID: Wierzba2011:21666440}" "" "M" "" "" "" "0" "" "" "white" "patient" "00179863" "" "" "" "1" "" "01321" "" "" "F" "" "Portugal" ">24y" "0" "" "" "" "" "00179864" "" "" "" "1" "" "01321" "" "" "F" "" "Portugal" ">22y" "0" "" "" "" "" "00179865" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" ">8y" "0" "" "" "" "" "00179866" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" ">20y" "0" "" "" "" "" "00179867" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00179868" "" "" "" "1" "" "01321" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00179869" "" "" "" "1" "" "01322" "" "" "M" "" "" "" "0" "" "" "" "" "00179870" "" "" "" "1" "" "01322" "" "" "M" "" "" "" "0" "" "" "" "" "00179871" "" "" "" "1" "" "01322" "" "" "F" "" "" "" "0" "" "" "" "" "00179872" "" "" "" "1" "" "01322" "" "" "F" "" "" "" "0" "" "" "" "" "00179873" "" "" "" "1" "" "01322" "" "" "M" "" "" "" "0" "" "" "" "" "00179874" "" "" "" "1" "" "01322" "" "" "M" "" "" "" "0" "" "" "" "" "00179875" "" "" "" "1" "" "01323" "{PMID:Baquero-Montoya 2014:24635725}" "" "F" "" "Spain" "" "0" "" "" "white" "" "00179878" "" "" "" "1" "" "01325" "" "" "" "" "" "" "0" "" "" "" "CdLS-A" "00179879" "" "" "" "1" "" "01325" "" "" "" "" "" "" "0" "" "" "" "CdLS-B" "00179880" "" "" "" "1" "" "01325" "" "" "" "" "" "" "0" "" "" "" "CdLS-C" "00179882" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" ">2y" "0" "" "" "" "P1" "00179883" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" ">13y" "0" "" "" "" "P2" "00179884" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "" "" "0" "" "" "" "P3A" "00179885" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "F" "" "" "" "0" "" "" "" "P3B" "00179886" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" "" "0" "" "" "" "P4" "00179887" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" "" "0" "" "" "" "P5" "00179888" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" "" "0" "" "" "" "P6" "00179889" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" "" "0" "" "" "" "P7A" "00179890" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "M" "" "" "" "0" "" "" "" "" "00179891" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "F" "" "" "" "0" "" "" "" "P8" "00179892" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "" "" "0" "" "" "" "P9" "00179893" "" "" "" "1" "" "02558" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "F" "" "" "" "0" "" "" "" "P10" "00179894" "" "" "" "1" "" "01175" "" "" "M" "" "" "" "0" "" "" "" "Patient 1" "00179895" "" "" "" "1" "" "01175" "" "" "F" "" "" "" "0" "" "" "" "Patient 2" "00183659" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat04" "00213483" "" "" "" "1" "" "00006" "{PMID:Reynhout 2019:30595372}" "" "F" "" "" "" "0" "" "" "" "30595372-Pat8" "00276046" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00293843" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293844" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293845" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293846" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293848" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293849" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293850" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293851" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293852" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293853" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293854" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293855" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293856" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293857" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293858" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293859" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295451" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295984" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00306228" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "135" "00315017" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1379" "00315018" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1490" "00331528" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "11DG0132" "00335380" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "177107" "00374117" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00374417" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4709" "00374418" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4473" "00374555" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0520" "00374556" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2564" "00374641" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5811" "00374789" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5934" "00374790" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1581" "00374791" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4474" "00374792" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1274" "00374793" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2652" "00377569" "" "" "" "1" "" "04131" "" "" "" "" "" "" "" "" "" "" "" "00379679" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0070" "00380834" "" "" "" "1" "" "00000" "{PMID:Ivanova 2018:30358468}" "" "F" "" "Russian Federation" "" "0" "" "" "Belarus" "Pat14" "00391016" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "182139" "00407886" "" "" "" "1" "" "04178" "{DOI:Hussen 2020:10.4103/MXE.MXE_14_20}" "3-generation family, 1 affected, unaffected parents" "M" "no" "Egypt" "" "0" "" "" "" "CdLS_P1" "00419637" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20096" "00426139" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, no other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "30BN10000" "00433155" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "252161" "00436323" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB6475" "00436324" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "" "" "United States" "" "0" "" "" "" "BAB3616" "00436325" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB3617" "00436326" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "" "" "United States" "" "0" "" "" "" "BAB3621" "00436327" "" "" "" "2" "" "00006" "{PMID:Yuan 2019:30158690}" "" "" "" "United States" "" "0" "" "" "" "BAB3967" "00436328" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB3968" "00436329" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB4008" "00436330" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB4141" "00436331" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB4695" "00436332" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "BAB4709" "00436333" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "" "" "United States" "" "0" "" "" "" "BAB4797" "00436334" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "" "" "" "United States" "" "0" "" "" "" "BAB4842" "00436348" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "NIPBL-Pat1" "00436349" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "NIPBL-Pat2" "00436350" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "NIPBL-Pat3" "00436351" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "NIPBL-Pat4" "00436352" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "NIPBL-Pat5" "00438407" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat126" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 405 "{{individualid}}" "{{diseaseid}}" "00050505" "00198" "00102083" "00139" "00179552" "04281" "00179553" "04281" "00179554" "04281" "00179555" "04281" "00179556" "04281" "00179557" "04281" "00179558" "04281" "00179559" "04281" "00179560" "04281" "00179561" "04281" "00179562" "04281" "00179563" "04281" "00179564" "04281" "00179565" "04281" "00179566" "04281" "00179567" "04281" "00179568" "04281" "00179569" "04281" "00179570" "04281" "00179571" "04281" "00179572" "04281" "00179573" "04281" "00179574" "04281" "00179575" "04281" "00179576" "04281" "00179577" "04281" "00179578" "04281" "00179579" "04281" "00179580" "04281" "00179581" "04281" "00179582" "04281" "00179583" "04281" "00179584" "04281" "00179585" "04281" "00179586" "04281" "00179587" "04281" "00179588" "04281" "00179589" "04281" "00179590" "04281" "00179591" "04281" "00179592" "04281" "00179593" "04281" "00179594" "04281" "00179595" "04281" "00179596" "04281" "00179597" "04281" "00179598" "04281" "00179599" "04281" "00179600" "04281" "00179601" "04281" "00179602" "04281" "00179603" "04281" "00179604" "04281" "00179605" "04281" "00179606" "04281" "00179607" "04281" "00179608" "04281" "00179609" "04281" "00179610" "04281" "00179611" "04281" "00179612" "04281" "00179613" "04281" "00179614" "04281" "00179615" "04281" "00179616" "04281" "00179617" "04281" "00179618" "04281" "00179619" "04281" "00179620" "04281" "00179621" "04281" "00179622" "04281" "00179623" "04281" "00179624" "04281" "00179625" "04281" "00179626" "04281" "00179627" "04281" "00179628" "04281" "00179629" "04281" "00179630" "04281" "00179631" "04281" "00179632" "04281" "00179633" "04281" "00179634" "04281" "00179635" "04281" "00179636" "04281" "00179637" "04281" "00179638" "04281" "00179639" "04281" "00179640" "04281" "00179641" "04281" "00179642" "04281" "00179643" "04281" "00179644" "04281" "00179645" "04281" "00179646" "04281" "00179647" "04281" "00179648" "04281" "00179649" "04281" "00179650" "04281" "00179651" "04281" "00179652" "04281" "00179653" "04281" "00179654" "04281" "00179655" "04281" "00179656" "04281" "00179657" "04281" "00179658" "04281" "00179659" "04281" "00179660" "04281" "00179661" "04281" "00179662" "00198" "00179663" "00198" "00179664" "00198" "00179665" "04281" "00179666" "04281" "00179667" "04281" "00179668" "04281" "00179669" "04281" "00179670" "04281" "00179671" "04281" "00179672" "04281" "00179673" "04281" "00179674" "04281" "00179675" "04281" "00179676" "04281" "00179677" "04281" "00179678" "04281" "00179679" "04281" "00179680" "04281" "00179681" "04281" "00179682" "04281" "00179683" "04281" "00179684" "04281" "00179685" "04281" "00179686" "04281" "00179687" "04281" "00179688" "04281" "00179689" "04281" "00179690" "04281" "00179691" "04281" "00179692" "04281" "00179693" "04281" "00179694" "04281" "00179695" "04281" "00179696" "04281" "00179697" "04281" "00179698" "04281" "00179699" "04281" "00179700" "04281" "00179701" "04281" "00179702" "04281" "00179703" "04281" "00179704" "04281" "00179705" "04281" "00179706" "04281" "00179707" "04281" "00179708" "04281" "00179709" "04281" "00179710" "04281" "00179711" "04281" "00179712" "04281" "00179713" "04281" "00179714" "04281" "00179715" "04281" "00179716" "04281" "00179717" "04281" "00179718" "04281" "00179719" "04281" "00179720" "04281" "00179721" "04281" "00179722" "04281" "00179723" "04281" "00179724" "04281" "00179725" "04281" "00179726" "04281" "00179727" "04281" "00179728" "04281" "00179729" "04281" "00179730" "04281" "00179731" "04281" "00179732" "04281" "00179733" "04281" "00179734" "04281" "00179735" "04281" "00179736" "04281" "00179737" "04281" "00179738" "04281" "00179739" "04281" "00179740" "04281" "00179741" "04281" "00179743" "04281" "00179744" "04281" "00179745" "04281" "00179746" "04281" "00179747" "04281" "00179748" "04281" "00179749" "04281" "00179750" "04281" "00179751" "04281" "00179752" "04281" "00179753" "04281" "00179754" "04281" "00179755" "04281" "00179756" "04281" "00179757" "04281" "00179758" "04281" "00179759" "04281" "00179760" "04281" "00179761" "04281" "00179762" "04281" "00179763" "04281" "00179764" "04281" "00179765" "04281" "00179766" "04281" "00179767" "04281" "00179768" "04281" "00179769" "04281" "00179770" "04281" "00179771" "04281" "00179772" "04281" "00179773" "04281" "00179774" "04281" "00179775" "04281" "00179776" "04281" "00179777" "04281" "00179778" "04281" "00179779" "04281" "00179780" "04281" "00179781" "04281" "00179782" "04281" "00179783" "04281" "00179784" "04281" "00179785" "04281" "00179786" "04281" "00179787" "04281" "00179788" "04281" "00179789" "04281" "00179790" "04281" "00179791" "04281" "00179792" "04281" "00179793" "04281" "00179794" "04281" "00179795" "04281" "00179796" "04281" "00179797" "04281" "00179798" "04281" "00179799" "04281" "00179800" "04281" "00179801" "04281" "00179802" "04281" "00179803" "04281" "00179804" "04281" "00179805" "04281" "00179806" "04281" "00179807" "04281" "00179808" "04281" "00179809" "04281" "00179810" "04281" "00179811" "04281" "00179812" "04281" "00179813" "04281" "00179814" "04281" "00179815" "04281" "00179816" "04281" "00179817" "04281" "00179818" "04281" "00179819" "04281" "00179820" "04281" "00179821" "04281" "00179822" "04281" "00179823" "04281" "00179824" "04281" "00179825" "04281" "00179826" "04281" "00179827" "04281" "00179828" "04281" "00179829" "04281" "00179830" "04281" "00179831" "04281" "00179832" "04281" "00179833" "04281" "00179834" "04281" "00179835" "04281" "00179836" "04281" "00179837" "04281" "00179838" "04281" "00179839" "04281" "00179840" "04281" "00179841" "04281" "00179842" "04281" "00179843" "04281" "00179844" "04281" "00179845" "04281" "00179846" "04281" "00179847" "04281" "00179848" "04281" "00179849" "04281" "00179850" "04281" "00179851" "04281" "00179852" "04281" "00179853" "04281" "00179854" "04281" "00179855" "04281" "00179856" "04281" "00179857" "04281" "00179858" "04281" "00179859" "04281" "00179860" "04281" "00179861" "04281" "00179862" "04281" "00179863" "04281" "00179864" "04281" "00179865" "04281" "00179866" "04281" "00179867" "04281" "00179868" "04281" "00179869" "04281" "00179870" "04281" "00179871" "04281" "00179872" "04281" "00179873" "04281" "00179874" "04281" "00179875" "04281" "00179878" "04281" "00179879" "04281" "00179880" "04281" "00179882" "04281" "00179883" "04281" "00179884" "04281" "00179885" "04281" "00179886" "04281" "00179887" "04281" "00179888" "04281" "00179889" "04281" "00179890" "04281" "00179891" "04281" "00179892" "04281" "00179893" "04281" "00179894" "04281" "00179895" "04281" "00183659" "00139" "00213483" "00139" "00276046" "00198" "00293843" "00198" "00293844" "00198" "00293845" "00198" "00293846" "00198" "00293848" "00198" "00293849" "00198" "00293850" "00198" "00293851" "00198" "00293852" "00198" "00293853" "00198" "00293854" "00198" "00293855" "00198" "00293856" "00198" "00293857" "00198" "00293858" "00198" "00293859" "00198" "00295451" "00198" "00295984" "00198" "00306228" "00610" "00315017" "00198" "00315018" "00198" "00331528" "05517" "00335380" "00610" "00374117" "00198" "00374417" "00198" "00374418" "00198" "00374555" "00198" "00374556" "00198" "00374641" "00198" "00374789" "00198" "00374790" "00198" "00374791" "00198" "00374792" "00198" "00374793" "00198" "00377569" "04281" "00379679" "04281" "00380834" "00610" "00391016" "00610" "00407886" "04281" "00419637" "00198" "00426139" "00139" "00433155" "00610" "00436323" "04281" "00436324" "04281" "00436325" "04281" "00436326" "04281" "00436327" "04281" "00436328" "04281" "00436329" "04281" "00436330" "04281" "00436331" "04281" "00436332" "04281" "00436333" "04281" "00436334" "04281" "00436348" "04281" "00436349" "04281" "00436350" "04281" "00436351" "04281" "00436352" "04281" "00438407" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00610, 04270, 04281, 05517 ## Count = 385 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037117" "00198" "00050505" "00006" "Isolated (sporadic)" "" "absent speech, laryngomalacia, plagiocephaly, posteriorly rotated ears, low-set ears, abnormality of the outer ear" "" "" "" "" "" "" "" "" "" "" "" "0000080269" "00139" "00102083" "01864" "Isolated (sporadic)" "" "HP:0001999; HP:0001182; HP:0006101; HP:0002650; intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000142010" "04281" "00179552" "01318" "Isolated (sporadic)" "28y4m" "moderate CDLS; speech before 24m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; mild mental retardation (IQ:50-80); microcephaly; sit before 9m; walking before 18m; severe post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142011" "04281" "00179553" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech?; facial anomalies; no facial cleft; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142012" "04281" "00179554" "01318" "Unknown" "" "severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; hirsutism; intra uterine growth retardation; small feet; upper limb defect hands; microcephaly; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142013" "04281" "00179555" "01318" "Isolated (sporadic)" "2y" "moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit after 20m; walking after 42m; severe post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142014" "04281" "00179556" "01318" "Isolated (sporadic)" "4y10m" "moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit 9m-2m; walking after 42m; severe post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142015" "04281" "00179557" "01318" "Isolated (sporadic)" "21y11m" "moderate CDLS; speech?; facial anomalies; cleft palate; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; sit after 20m; mild post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142016" "04281" "00179558" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; small hands; mild mental retardation (IQ:50-80); microcephaly; walking 18m-42m; mild post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142017" "04281" "00179559" "01318" "Isolated (sporadic)" "6y3m" "moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; severe post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142018" "04281" "00179560" "01318" "Isolated (sporadic)" "7y1m" "moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; walking 18m-42m; severe post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142019" "04281" "00179561" "01318" "Isolated (sporadic)" "25y4m" "moderate CDLS; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; severe post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142020" "04281" "00179562" "01318" "Isolated (sporadic)" "9y" "mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142021" "04281" "00179563" "01318" "Isolated (sporadic)" "" "mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; mild post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142022" "04281" "00179564" "01318" "Isolated (sporadic)" "" "mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; no congenital heart defects; no hirsutism; no lower limb defects; no upper limb defect; microcephaly; mild post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142023" "04281" "00179565" "01318" "Isolated (sporadic)" "" "facial anomalies; speech?; no facial cleft; no genital anomalies; no congenital heart defects; hirsutism; no intra uterine growth retardation; small hands; no microcephaly; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142024" "04281" "00179566" "01318" "Isolated (sporadic)" "1m" "severe CDLS; speech?; facial anomalies; no facial cleft; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142025" "04281" "00179567" "01318" "Isolated (sporadic)" "3y" "mild CDLS; speech?; facial features?; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142026" "04281" "00179568" "01318" "Isolated (sporadic)" "8y" "mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142027" "04281" "00179569" "01318" "Isolated (sporadic)" "17y" "mild CDLS; speech?; facial anomalies; hirsutism; small hands; moderate mental retardation (IQ:35-50); mild post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142028" "04281" "00179570" "01318" "Isolated (sporadic)" "4m15d" "severe CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142029" "04281" "00179571" "01318" "Unknown" "" "moderate CDLS; speech?; facial features?; genital anomalies; congenital heart defects; small hands; microcephaly; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142030" "04281" "00179572" "01318" "Isolated (sporadic)" "23y" "moderate CDLS; speech?; facial anomalies; cleft palate; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142031" "04281" "00179573" "01318" "Unknown" "" "moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142032" "04281" "00179574" "01318" "Isolated (sporadic)" "3y6m" "mild CDLS; speech?; facial anomalies; genital anomalies; hirsutism; small hands; severe mental retardation; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142033" "04281" "00179575" "01318" "Unknown" "10y" "severe CDLS; speech?; facial anomalies; hirsutism; upper limb defect digit(s); severe mental retardation; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142034" "04281" "00179576" "01318" "Unknown" "" "mild CDLS; speech?; facial features?; small hands; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142035" "04281" "00179577" "01318" "Isolated (sporadic)" "" "mild CDLS; speech?; facial anomalies; intra uterine growth retardation; small hands; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142036" "04281" "00179578" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech?; facial anomalies; no facial cleft; gastro-esophageal reflux disease; congenital heart defects; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142037" "04281" "00179579" "01318" "Isolated (sporadic)" "" "severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142038" "04281" "00179580" "01318" "Isolated (sporadic)" "" "severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142039" "04281" "00179581" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142040" "04281" "00179582" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech?; facial anomalies; congenital heart defects; no upper limb defect;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142041" "04281" "00179583" "01318" "Unknown" "" "severe CDLS; speech?; facial anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142042" "04281" "00179584" "01318" "Isolated (sporadic)" "" "severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142043" "04281" "00179585" "01318" "Isolated (sporadic)" "6y" "mild CDLS; speech?; facial anomalies; hirsutism; small hands; mild post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142044" "04281" "00179586" "01318" "Isolated (sporadic)" "5y" "mild CDLS; speech?; facial anomalies; hirsutism; small hands; mild post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142045" "04281" "00179587" "01318" "Isolated (sporadic)" "" "severe CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; upper limb defect hands; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142046" "04281" "00179588" "01318" "Isolated (sporadic)" "" "moderate CDLS; speech?; facial anomalies; genital anomalies; hirsutism; small hands; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142047" "04281" "00179589" "01318" "Isolated (sporadic)" "" "mild CDLS; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no upper limb defect; mild mental retardation (IQ:50-80); microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142048" "04281" "00179590" "01318" "Unknown" "" "severe CDLS; speech?; facial anomalies; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142049" "04281" "00179591" "01318" "Unknown" "" "moderate CDLS; speech?; facial anomalies; small hands; microcephaly; severe post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142050" "04281" "00179592" "01318" "Isolated (sporadic)" "1y" "moderate CDLS; facial anomalies; genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142051" "04281" "00179593" "01318" "Isolated (sporadic)" "" "mild CDLS; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142052" "04281" "00179594" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142053" "04281" "00179595" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142054" "04281" "00179596" "01318" "Unknown" "" "severe CDLS; facial anomalies; hirsutism; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142055" "04281" "00179597" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142056" "04281" "00179598" "01318" "Unknown" "" "severe CDLS; no facial features; hirsutism; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142057" "04281" "00179599" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142058" "04281" "00179600" "01318" "Isolated (sporadic)" "" "facial anomalies; hirsutism; upper limb defect digit(s);" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142059" "04281" "00179601" "01318" "Unknown" "" "severe CDLS; facial anomalies; hirsutism; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142060" "04281" "00179602" "01318" "Isolated (sporadic)" "" "severe CDLS; facial anomalies; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142061" "04281" "00179603" "01318" "Isolated (sporadic)" "" "severe CDLS; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142062" "04281" "00179604" "01318" "Isolated (sporadic)" "" "moderate CDLS; intra uterine growth retardation; no upper limb defect; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142063" "04281" "00179605" "01318" "Isolated (sporadic)" "" "facial anomalies; hirsutism;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142064" "04281" "00179606" "01318" "Unknown" "" "severe CDLS; facial anomalies; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142065" "04281" "00179607" "01318" "Unknown" "" "severe CDLS; facial anomalies; hirsutism; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142066" "04281" "00179608" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142067" "04281" "00179609" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142068" "04281" "00179610" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142069" "04281" "00179611" "01318" "Unknown" "" "facial anomalies; hirsutism; small feet; upper limb defect digit(s);" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142070" "04281" "00179612" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142071" "04281" "00179613" "01318" "Unknown" "" "severe CDLS; facial anomalies; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142072" "04281" "00179614" "01318" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142073" "04281" "00179615" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142074" "04281" "00179616" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142075" "04281" "00179617" "01318" "Unknown" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142076" "04281" "00179618" "01318" "Isolated (sporadic)" "" "facial anomalies; cleft palate; intra uterine growth retardation; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142077" "04281" "00179619" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142078" "04281" "00179620" "01318" "Isolated (sporadic)" "" "severe CDLS; hirsutism; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142079" "04281" "00179621" "01318" "Unknown" "" "severe CDLS; facial anomalies; hirsutism; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142080" "04281" "00179622" "01318" "Unknown" "" "moderate CDLS; intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142081" "04281" "00179623" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142082" "04281" "00179624" "01318" "Isolated (sporadic)" "" "severe CDLS; facial anomalies; hirsutism; no lower limb defects; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142083" "04281" "00179625" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142084" "04281" "00179626" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142085" "04281" "00179627" "01318" "Unknown" "" "facial anomalies; hirsutism; small hands; no mental retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142086" "04281" "00179628" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142087" "04281" "00179629" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142088" "04281" "00179630" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142089" "04281" "00179631" "01318" "Unknown" "" "mild CDLS; facial anomalies; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142090" "04281" "00179632" "01318" "Unknown" "" "mild CDLS; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142091" "04281" "00179633" "01318" "Unknown" "" "facial anomalies; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142092" "04281" "00179634" "01318" "Isolated (sporadic)" "" "mild CDLS; facial anomalies; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142093" "04281" "00179635" "01318" "Isolated (sporadic)" "" "mild CDLS; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142094" "04281" "00179636" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142095" "04281" "00179637" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142096" "04281" "00179638" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142097" "04281" "00179639" "01318" "Unknown" "" "facial anomalies; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142098" "04281" "00179640" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142099" "04281" "00179641" "01318" "Isolated (sporadic)" "" "severe CDLS; Right hand ectrodactyly; facial anomalies; upper limb defect hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142100" "04281" "00179642" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142101" "04281" "00179643" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142102" "04281" "00179644" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142103" "04281" "00179645" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142104" "04281" "00179646" "01318" "Unknown" "" "proximaly placed thumbs; facial anomalies; no intra uterine growth retardation; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142105" "04281" "00179647" "01318" "Isolated (sporadic)" "" "facial anomalies; hirsutism;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142106" "04281" "00179648" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142107" "04281" "00179649" "01318" "Isolated (sporadic)" "" "facial anomalies; small hands;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142108" "04281" "00179650" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142109" "04281" "00179651" "01318" "Familial" "3y4m" "mild CDLS; MR present, unspecified.; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); no microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142110" "04281" "00179652" "01318" "Isolated (sporadic)" "" "mild CDLS; speech 24m-48m; facial anomalies; previously gastro-esophageal reflux disease; congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; mild mental retardation (IQ:50-80); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142111" "04281" "00179653" "01318" "Isolated (sporadic)" "11y" "mild CDLS; Cleft palate; CHD: mitral valve prolapse; Mental retardation present (unspecified); Seizures.; facial anomalies; cleft palate; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142112" "04281" "00179654" "01318" "Isolated (sporadic)" "10y" "mild CDLS; mental retardation present (unspecified);; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142113" "04281" "00179655" "01318" "Isolated (sporadic)" "4y" "moderate CDLS; m ental retardation present (unspecified); vesico-urethral reflux; seizures; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142114" "04281" "00179656" "01318" "Isolated (sporadic)" "1y" "Mental retardation present (unspecified); CHD: ASD; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142115" "04281" "00179657" "01318" "Isolated (sporadic)" "8y" "moderate CDLS; Mental retardation present (unspecified); facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; severe mental retardation; microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142116" "04281" "00179658" "01318" "Unknown" "" "severe CDLS; Hearing impairment; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; upper limb defect forearm; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142117" "04281" "00179659" "01318" "Unknown" "" "severe CDLS; Hearing impairment; speech?; facial anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect forearm; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142118" "04281" "00179660" "01318" "Isolated (sporadic)" "" "Hearing impairment.; Pyloric stenosis.; facial anomalies; no congenital heart defects; hirsutism; intra uterine growth retardation; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142119" "04281" "00179661" "01318" "Unknown" "" "severe CDLS; speech?; facial anomalies; no gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; upper limb defect hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142120" "04281" "00179665" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142121" "04281" "00179666" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142122" "04281" "00179667" "01318" "Isolated (sporadic)" "" "CHD: T.Fallot; speech?; facial anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; no intra uterine growth retardation; small feet; small hands; severe mental retardation; sit after 20m; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142123" "04281" "00179668" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142124" "04281" "00179669" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142125" "04281" "00179670" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142126" "04281" "00179671" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142127" "04281" "00179672" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142128" "04281" "00179673" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142129" "04281" "00179674" "01318" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142130" "04281" "00179675" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142131" "04281" "00179676" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142132" "04281" "00179677" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142133" "04281" "00179678" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142134" "04281" "00179679" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142135" "04281" "00179680" "01318" "Isolated (sporadic)" "" "facial anomalies; sit after 20m;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142136" "04281" "00179681" "01318" "Unknown" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142137" "04281" "00179682" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142138" "04281" "00179683" "01318" "Isolated (sporadic)" "" "facial anomalies; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142139" "04281" "00179684" "01318" "Isolated (sporadic)" "" "facial anomalies; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142140" "04281" "00179685" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142141" "04281" "00179686" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142142" "04281" "00179687" "01318" "Isolated (sporadic)" "" "facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142143" "04281" "00179688" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142144" "04281" "00179689" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142145" "04281" "00179690" "01318" "Isolated (sporadic)" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142146" "04281" "00179691" "01318" "Isolated (sporadic)" "" "severe CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142147" "04281" "00179692" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142148" "04281" "00179693" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142149" "04281" "00179694" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142150" "04281" "00179695" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142151" "04281" "00179696" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142152" "04281" "00179697" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142153" "04281" "00179698" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142154" "04281" "00179699" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142155" "04281" "00179700" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142156" "04281" "00179701" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142157" "04281" "00179702" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142158" "04281" "00179703" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142159" "04281" "00179704" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142160" "04281" "00179705" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142161" "04281" "00179706" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142162" "04281" "00179707" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142163" "04281" "00179708" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142164" "04281" "00179709" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142165" "04281" "00179710" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142166" "04281" "00179711" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142167" "04281" "00179712" "01318" "Unknown" "10y" "mild CDLS; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no intra uterine growth retardation; upper limb defect digit(s); mild mental retardation (IQ:50-80); no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142168" "04281" "00179713" "01318" "Unknown" "9y" "moderate CDLS; hearing impairment, NS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142169" "04281" "00179714" "01318" "Unknown" "6y" "mild CDLS; brain, GI, cardiac, eye malformations, unspecified; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142170" "04281" "00179715" "01318" "Unknown" "27y" "moderate CDLS; limited elbow movement; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142171" "04281" "00179716" "01318" "Unknown" "29y" "limited elbow movement; speech > 48m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142172" "04281" "00179717" "01318" "Unknown" "4y" "moderate CDLS; Limb reduction, unspecified; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; no intra uterine growth retardation; upper limb defect hands; moderate mental retardation (IQ:35-50); post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142173" "04281" "00179718" "01318" "Unknown" "5y" "moderate CDLS; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); walking after 42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142174" "04281" "00179719" "01318" "Unknown" "33y" "moderate CDLS; brain malformation, unspecified; speech?; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142175" "04281" "00179720" "01318" "Isolated (sporadic)" "14y" "moderate CDLS; ptosis; speech?; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142176" "04281" "00179721" "01318" "Unknown" "12y" "moderate CDLS; hearing impairment, NS; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142177" "04281" "00179722" "01318" "Unknown" "6y" "moderate CDLS; GI malformation, unspecified; ptosis; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142178" "04281" "00179723" "01318" "Unknown" "16y" "moderate CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142179" "04281" "00179724" "01318" "Unknown" "4y" "severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); sit after 20m; walking after 42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142180" "04281" "00179725" "01318" "Unknown" "6y" "severe CDLS; limb reduction, unspecified; brain malformation, unspecified; ptosis; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; upper limb defect hands; severe mental retardation; walking after 42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142181" "04281" "00179726" "01318" "Unknown" "4y" "severe CDLS; limb reduction, unspecified; brain, urinary, genital, eye malformations, unspecified; limited elbow extension; myopia; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect hands; severe mental retardation; walking after 42m; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142182" "04281" "00179727" "01318" "Isolated (sporadic)" "17y" "severe CDLS; hearing impairment, NS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; severe mental retardation; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142183" "04281" "00179728" "01318" "Unknown" "3y" "severe CDLS; hearing impairment, NS; speech > 48m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142184" "04281" "00179729" "01318" "Unknown" "9y" "severe CDLS; limb reduction, unspecified; epilepsy; speech > 48m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142185" "04281" "00179730" "01318" "Unknown" "20y" "severe CDLS; limb reduction, unspecified; GI malformation, unspecified; speech > 48m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; upper limb defect hands; severe mental retardation; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142186" "04281" "00179731" "01318" "Unknown" "3y" "severe CDLS; limb reduction, unspecified; Hearing impairment, NS; limited elbow movement; Brain, urinary, genitalia anomalies, unspecified; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no intra uterine growth retardation; upper limb defect hands; severe mental retardation; no post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142187" "04281" "00179732" "01318" "Unknown" "1y" "congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142188" "04281" "00179733" "01318" "Unknown" "1y" "limb reduction, unspecified; cleft palate; cardiac, GI, genital, eye malformations, unspecified; facial anomalies; cleft palate; genital anomalies; congenital heart defects; intra uterine growth retardation; upper limb defect hands; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142189" "04281" "00179734" "01318" "Unknown" "1y" "Recurrent otitis; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no intra uterine growth retardation; no lower limb defects; no upper limb defect; no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142190" "04281" "00179735" "01318" "Isolated (sporadic)" "2y" "brain malformation, unspecified; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); walking after 42m; no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142191" "04281" "00179736" "01318" "Unknown" "2y" "facial anomalies; speech?; cleft palate; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142192" "04281" "00179737" "01318" "Unknown" "2y" "cleft palate; limited elbow extension; hypothyroidism; facial anomalies; cleft palate; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142193" "04281" "00179738" "01318" "Unknown" "9y" "severe CDLS; speech?; facial anomalies; genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; upper limb defect digit(s); severe mental retardation; microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "" "" "" "0000142194" "04281" "00179739" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142195" "04281" "00179740" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142196" "04281" "00179741" "01318" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142197" "04281" "00179743" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142198" "04281" "00179744" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142199" "04281" "00179745" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142200" "04281" "00179746" "01318" "Unknown" "" "severe CDLS; speech > 48m; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; upper limb defect digit(s); severe mental retardation; microcephaly; sit after 20m; walking after 42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142201" "04281" "00179747" "01318" "Unknown" "2y9m" "mild CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit 9m-2m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142202" "04281" "00179748" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142203" "04281" "00179749" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142204" "04281" "00179750" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142205" "04281" "00179751" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142206" "04281" "00179752" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142207" "04281" "00179753" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142208" "04281" "00179754" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142209" "04281" "00179755" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142210" "04281" "00179756" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142211" "04281" "00179757" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142212" "04281" "00179758" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142213" "04281" "00179759" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142214" "04281" "00179760" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142215" "04281" "00179761" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142216" "04281" "00179762" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142217" "04281" "00179763" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142218" "04281" "00179764" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142219" "04281" "00179765" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142220" "04281" "00179766" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142221" "04281" "00179767" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142222" "04281" "00179768" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142223" "04281" "00179769" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142224" "04281" "00179770" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142225" "04281" "00179771" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142226" "04281" "00179772" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142227" "04281" "00179773" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142228" "04281" "00179774" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142229" "04281" "00179775" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142230" "04281" "00179776" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142231" "04281" "00179777" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142232" "04281" "00179778" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142233" "04281" "00179779" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142234" "04281" "00179780" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142235" "04281" "00179781" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142236" "04281" "00179782" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142237" "04281" "00179783" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142238" "04281" "00179784" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142239" "04281" "00179785" "01318" "Isolated (sporadic)" "" "severe CDLS; Diaphragmatic Hernia.; TOP at 21 weeks gestation.; facial anomalies; no congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; upper limb defect digit(s); microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142240" "04281" "00179786" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142241" "04281" "00179787" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142242" "04281" "00179788" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142243" "04281" "00179789" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142244" "04281" "00179790" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142245" "04281" "00179791" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142246" "04281" "00179792" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142247" "04281" "00179793" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142248" "04281" "00179794" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142249" "04281" "00179795" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142250" "04281" "00179796" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142251" "04281" "00179797" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142252" "04281" "00179798" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142253" "04281" "00179799" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142254" "04281" "00179800" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142255" "04281" "00179801" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142256" "04281" "00179802" "01321" "Isolated (sporadic)" "6y" "mild CDLS; speech 24m-48m; facial anomalies; cleft palate; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; no mental retardation; microcephaly; sit 9m-2m; walking before 18m; no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142257" "04281" "00179803" "01321" "Isolated (sporadic)" "4y" "mild CDLS; speech before 24m; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; sit 9m-2m; walking before 18m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142258" "04281" "00179804" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142259" "04281" "00179805" "01318" "Isolated (sporadic)" "" "severe CDLS; DD and MR, unclassified; Heart murmur; Horseshoe kidney; Malformed internal auditory structures; speech?; facial features?; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; upper limb defect digit(s); moderate mental retardation (IQ:35-50); no microcephaly; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142260" "04281" "00179806" "01318" "Isolated (sporadic)" "" "severe CDLS; ASD, PFO; Hearing loss; DD and MR, unclassified; facial features?; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; upper limb defect forearm; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142261" "04281" "00179807" "01318" "Isolated (sporadic)" "" "mild CDLS; DD and MR, unclassified; Seizures. Cortical-subcortical atrophy; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142262" "04281" "00179808" "01318" "Isolated (sporadic)" "" "mild CDLS; DD and MR, unclassified; Hearing loss; Testicular cyst; VSD; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142263" "04281" "00179809" "01318" "Isolated (sporadic)" "" "moderate CDLS; DD, unclassified; Hearing loss; Pulmonic stenosis; Atelectasia; facial anomalies; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142264" "04281" "00179810" "01318" "Isolated (sporadic)" "" "moderate CDLS; DD and MR, unclassified; Bilateral cryptorchidism; speech?; facial anomalies; no facial cleft; genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small hands; moderate mental retardation (IQ:35-50); no microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142265" "04281" "00179811" "01318" "Isolated (sporadic)" "" "severe CDLS; Cleft palate; Hearing loss; DD, unclassified; speech?; facial anomalies; cleft palate; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; upper limb defect forearm; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142266" "04281" "00179812" "01318" "Isolated (sporadic)" "" "mild CDLS; DD and MR, unclassified; Cryptorchidism; Renal cyst; Heart murmur; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; no post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142267" "04281" "00179813" "01318" "Isolated (sporadic)" "" "moderate CDLS; Pulmonary stenosis; DD and MR, unclassified; facial features?; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; congenital heart defects; no hirsutism; intra uterine growth retardation; no lower limb defects; no upper limb defect; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142268" "04281" "00179814" "01318" "Isolated (sporadic)" "" "severe CDLS; DD, unclassified; Hearing loss; Cryptorchidism; Cleft palate; speech?; facial anomalies; cleft palate; genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; no hirsutism; intra uterine growth retardation; upper limb defect digit(s); moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142269" "04281" "00179815" "01318" "Isolated (sporadic)" "" "moderate CDLS; DD, unclassified; Hearing loss; Cleft palate; Hypoplasia labio minor; speech?; facial anomalies; cleft palate; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; small hands; moderate mental retardation (IQ:35-50); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142270" "04281" "00179816" "00006" "Unknown" "" "typical CDLS; no lower limb defects; no upper limb defect; severe mental retardation; no microcephaly;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142271" "04281" "00179817" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142272" "04281" "00179818" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142273" "04281" "00179819" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142274" "04281" "00179820" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142275" "04281" "00179821" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142276" "04281" "00179822" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142277" "04281" "00179823" "00006" "Unknown" "" "mild CDLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142278" "04281" "00179824" "01318" "Isolated (sporadic)" "3y" "facial anomalies; speech?; no facial cleft; genital anomalies; previously gastro-esophageal reflux disease; no congenital heart defects; intra uterine growth retardation; no lower limb defects; no upper limb defect; microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142279" "04281" "00179825" "01320" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142280" "04281" "00179826" "01320" "Isolated (sporadic)" "9m" "mild CDLS; speech?; facial anomalies; no facial cleft; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; small hands; microcephaly; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142281" "04281" "00179827" "01320" "Unknown" "" "Neonatal death; single umbilical arteryCHD: ASDAnnular pancreasUrinary: bilateral hydroureter; facial anomalies; no facial cleft; no genital anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; small hands; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142282" "04281" "00179828" "00006" "Isolated (sporadic)" "2y" "mild CDLS; speech 24m-48m; facial anomalies; no facial cleft; no genital anomalies; previously gastro-esophageal reflux disease; congenital heart defects; hirsutism; no lower limb defects; upper limb defect digit(s); sit 9m-2m; walking 18m-42m; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142283" "04281" "00179829" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142284" "04281" "00179830" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142285" "04281" "00179831" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142286" "04281" "00179832" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142287" "04281" "00179833" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142288" "04281" "00179834" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142289" "04281" "00179835" "00503" "Unknown" "" "cleft palate; upper limb defect forearm; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142290" "04281" "00179836" "00503" "Unknown" "" "cleft palate; upper limb defect forearm; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142291" "04281" "00179837" "00503" "Familial" "" "severe mental retardation; no post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142292" "04281" "00179838" "00503" "Unknown" "" "mild mental retardation (IQ:50-80); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142293" "04281" "00179839" "00503" "Unknown" "" "mild mental retardation (IQ:50-80); no post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142294" "04281" "00179840" "00503" "Unknown" "" "mild mental retardation (IQ:50-80); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142295" "04281" "00179841" "00503" "Unknown" "" "cleft palate; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142296" "04281" "00179842" "00503" "Unknown" "" "Hip dislocation; cleft palate; upper limb defect forearm; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142297" "04281" "00179843" "00503" "Unknown" "" "cleft palate; upper limb defect forearm; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142298" "04281" "00179844" "00503" "Unknown" "" "cleft palate; genital anomalies; upper limb defect forearm; severe mental retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142299" "04281" "00179845" "00503" "Unknown" "" "mild mental retardation (IQ:50-80); genital anomalies; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142300" "04281" "00179846" "00503" "Unknown" "" "cleft palate; mild mental retardation (IQ:50-80); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142301" "04281" "00179847" "00503" "Unknown" "" "low PAPP-A; marked micrognathia, pregnancy terminated; facial anomalies; cleft palate; no congenital heart defects; no intra uterine growth retardation; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142302" "04281" "00179848" "00503" "Unknown" "" "pregnancy terminated; no congenital heart defects; no intra uterine growth retardation; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142303" "04281" "00179849" "01320" "Isolated (sporadic)" "" "facial anomalies; genital anomalies; congenital heart defects; hirsutism; upper limb defect digit(s); post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142304" "04281" "00179850" "01320" "Isolated (sporadic)" "" "facial anomalies; speech 24m-48m; cleft palate; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; moderate mental retardation (IQ:35-50); walking 18m-42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142305" "04281" "00179851" "01320" "Isolated (sporadic)" "" "facial anomalies; speech 24m-48m; hirsutism; intra uterine growth retardation; small hands; no microcephaly; walking 18m-42m; post natal growth retardation; urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142306" "04281" "00179852" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142307" "04281" "00179853" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142308" "04281" "00179854" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142309" "04281" "00179855" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142310" "04281" "00179856" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142311" "04281" "00179857" "01067" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142312" "04281" "00179858" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142313" "04281" "00179859" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142314" "04281" "00179860" "01320" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142315" "04281" "00179861" "01320" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142316" "04281" "00179862" "01320" "Unknown" "3y6m" "severe CDLS,P FOC, cyptorchidismH, hpospadias; speech?; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; no lower limb defects; upper limb defect forearm; microcephaly; sit after 20m; walking after 42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142317" "04281" "00179863" "01321" "Unknown" "24y" "moderate CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; no intra uterine growth retardation; small feet; small hands; microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142318" "04281" "00179864" "01321" "Unknown" "22y" "facial anomalies; speech > 48m; no facial cleft; no genital anomalies; no gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142319" "04281" "00179865" "01321" "Unknown" "8y" "severe CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; no congenital heart defects; hirsutism; intra uterine growth retardation; small feet; upper limb defect digit(s); microcephaly; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142320" "04281" "00179866" "01321" "Unknown" "20y" "mild CDLS; speech?; facial anomalies; no facial cleft; no genital anomalies; gastro-esophageal reflux disease; congenital heart defects; no hirsutism; no intra uterine growth retardation; no lower limb defects; no upper limb defect; no microcephaly; no post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142321" "04281" "00179867" "01321" "Isolated (sporadic)" "" "Severe?; Death during neonatal period; multiple anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142322" "04281" "00179868" "01321" "Unknown" "" "Severe?; facial anomalies; intra uterine growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142323" "04281" "00179869" "01322" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142324" "04281" "00179870" "01322" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142325" "04281" "00179871" "01322" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142326" "04281" "00179872" "01322" "Unknown" "" "Possible CdLS;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142327" "04281" "00179873" "01322" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142328" "04281" "00179874" "01322" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142329" "04281" "00179875" "01323" "Unknown" "5y" "Patient with classic symptoms of CdLS also has other unusual clinical findings: aberrant subclavian artery and a tuberous angioma visible on the neck. ; speech > 48m; facial anomalies; no facial cleft; genital anomalies; gastro-esophageal reflux disease; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; small hands; microcephaly; sit 9m-2m; walking 18m-42m; post natal growth retardation; no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142332" "04281" "00179878" "01325" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142333" "04281" "00179879" "01325" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142334" "04281" "00179880" "01325" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142336" "04281" "00179882" "02558" "Unknown" "" "2-year-old boy with pre and postnatal growth retardation, developmental delay, typical facial features, heart valve stenosis and a feeding disorder.; facial anomalies; congenital heart defects; intra uterine growth retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142337" "04281" "00179883" "02558" "Unknown" "13y" "13-year-old boy with pre and postnatal growth retardation, intellectual disability with speech and motor delay, typical facial features, aortic stenosis and hirsutism.; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142338" "04281" "00179884" "02558" "Unknown" "3y" "3-year-old boy with pre and postnatal growth retardation, intellectual disability with speech and motor delay, typical facial features, autistic spectrum disorders, a feeding disorder, cryptorchidism and hirsutism.; facial anomalies; genital anomalies; hirsutism; intra uterine growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142339" "04281" "00179885" "02558" "Unknown" "36y" "36-year-old female with postnatal growth retardation, typical facial features, a feeding disorder, minor skeletal anomalies and hirsutism.; facial anomalies; hirsutism; intra uterine growth retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142340" "04281" "00179886" "02558" "Unknown" "24y" "23-year-old male with pre and postnatal growth retardation, typical features, intellectual disability, pyloric stenosis and a feeding disorder.; facial anomalies; intra uterine growth retardation; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142341" "04281" "00179887" "02558" "Unknown" "7y" "7-year-old boy with postnatal growth retardation, intellectual disability with speech delay, typical facial features, deafness, GERD with a feeding disorder and small hands.; facial anomalies; gastro-esophageal reflux disease; small hands; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142342" "04281" "00179888" "02558" "Unknown" "" "4-year-old boy with pre and postnatal growth retardation, developmental delay, typical facial features, pulmonar stenosis, cryptorchidism, bilateral aplasia of the ulna, dysplasia of distal humerus and monodactyly.; facial anomalies; genital anomalies; intra uterine growth retardation; upper limb defect forearm; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142343" "04281" "00179889" "02558" "Unknown" "9y" "9-year-old boy with has pre and postnatal growth retardation, intellectual disability with speech delay, typical facial features, hirsutism and small hands.; facial anomalies; hirsutism; intra uterine growth retardation; small hands; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142344" "04281" "00179890" "02558" "Unknown" "40y" "40-year-old male with typical features, intellectual disability, hearing loss, ventricular septal defect and crytorchidism.; facial anomalies; genital anomalies; congenital heart defects;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142345" "04281" "00179891" "02558" "Unknown" "1y" "1-year-old girl with pre and postnatal growth retardation, typical facial features, left ventricular hypertrophy, feeding disorder, horseshoe kidney, hirsutism, right amelia and small feet.; facial anomalies; congenital heart defects; hirsutism; intra uterine growth retardation; small feet; upper limb defect forearm;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142346" "04281" "00179892" "02558" "Unknown" "26y" "26-year-old female with pre and postnatal growth retardation, intellectual disability with speech delay, typical facial features, deafness, feeding disorder, hirsutism, small hands and feet.; facial anomalies; hirsutism; intra uterine growth retardation; small feet; small hands; post natal growth retardation;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142347" "04281" "00179893" "02558" "Unknown" "8y" "8-year-old girl with speech delay, typical facial features and a feeding disorder.; facial anomalies;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142348" "04281" "00179894" "01175" "Unknown" "" "facial anomalies; no genital anomalies; no gastro-esophageal reflux disease; upper limb defect hands; mild mental retardation (IQ:50-80); no urinary anomalies" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000142349" "04281" "00179895" "01175" "Isolated (sporadic)" "" "facial anomalies; hirsutism;" "" "" "" "" "" "" "" "" "CDLS-1" "Cornelia de Lange syndrome" "" "0000144345" "00139" "00183659" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS" "intellectual disability" "" "0000161946" "00139" "00213483" "00006" "Isolated (sporadic)" "2y1m" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210602" "00198" "00276046" "01807" "Unknown" "" "Syndactyly (HP:0001159); Thickened nuchal skin fold (HP:0000474)" "" "" "" "" "" "" "" "" "" "" "" "0000223451" "00198" "00295984" "01164" "Unknown" "" "Growth abnormality (HP:0001507); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000232076" "00610" "00306228" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238769" "00198" "00315017" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "chromatinopathy" "" "0000238770" "00198" "00315018" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "chromatinopathy" "" "0000249720" "05517" "00331528" "00000" "Familial, autosomal dominant" "" "Intrauterine growth retardation, Downslanted palpebral fissures, Long eyelashes, Intellect Yes" "" "" "" "" "" "" "" "" "Limb hypoplasia-reduction defects group" "skeletal dysplasia" "" "0000253327" "00610" "00335380" "01164" "Unknown" "00y01m" "prenatal growth retardation (HP:0001511), postnatal macrocephaly (HP:0005490), abnormal cardiac morphology (HP:0001627)" "" "" "" "" "" "" "" "" "" "" "" "0000269328" "00198" "00374117" "00006" "Isolated (sporadic)" "<0d" "36w-fetus, ultrasound Diaphragmatic hernia, hypospadias, complex cardiopathy; autopsy Facial dysmorphism, hypoplastic third phalanges, left diaphragmatic hernia, complex cardiopathy, hypospadias; Diaphragmatic hernia uncommon, neurodevelopmental defects not accessible" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000269627" "00198" "00374417" "00006" "Familial, autosomal dominant" "" "Microcephaly, synophrys, low anterior hair line, long philtrum, anteverted nares, thin lip, depressed nose, high arched palate, short neck and micromelia" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000269628" "00198" "00374418" "00006" "Familial, autosomal dominant" "" "Global developmental delay, microcephaly and dysmorphism" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000269765" "00198" "00374555" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000269766" "00198" "00374556" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000269851" "00198" "00374641" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269999" "00198" "00374789" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, intellectual disability" "" "0000270000" "00198" "00374790" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000270001" "00198" "00374791" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "0000270002" "00198" "00374792" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270003" "00198" "00374793" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000272722" "04281" "00377569" "04131" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000273523" "04281" "00379679" "03508" "Familial, autosomal dominant" "" "HP:0032122,\tHP:0000613,\tHP:0001129,\tHP:0000639,\tHP:0001288,\tHP:0000006,\tHP:0004322, HP:0002553,\tHP:0008850,\tHP:0001956,\tHP:0000175" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome (CDLS)" "" "0000274687" "00610" "00380834" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "" "" "0000284504" "00610" "00391016" "01164" "Isolated (sporadic)" "00y04m" "intrauterine growth retardation (HP:0001511), Short long bone, Abnormality of long bone morphology, Abnormal appendicular skeleton morphology, Prenatal maternal abnormality, Preeclampsia, Abnormality of prenatal development or birth; no congenital macrocephaly (-HP:0004488); no cleft; abnormality limbs (HP:0040064)" "" "" "" "" "" "" "" "" "" "" "" "0000300016" "04281" "00407886" "04178" "Unknown" "09y04m" "HP:0000252 - Microcephaly\r\nHP:0002553 - Highly arched eyebrow\r\nHP:0000664 - Synophrys\r\nHP:0000527 - Long eyelashes\r\nHP:0000368 - Low-set, posteriorly rotated ears\r\nHP:0000463 - Anteverted nares\r\nHP:0002714 - Downturned corners of mouth\r\nHP:0000470 - Short neck\r\nHP:0001377 - Limited elbow extension\r\nHP:0200021 - Down-sloping shoulders\r\nHP:0003691 - Scapular winging\r\nHP:0007485 - Absence of subcutaneous fat\r\nHP:0004322 - Short stature\r\nHP:0002750 - Delayed skeletal maturation" "" "" "" "" "" "" "" "" "" "9 yrs and 4 Months" "" "0000310918" "00198" "00419637" "02300" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000317289" "00139" "00426139" "00006" "Familial, autosomal dominant" "4y" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome 1" "intellectual disability" "" "0000323702" "00610" "00433155" "01164" "Isolated (sporadic)" "02y" "microcephaly (HP:0000252) Neurodevelopmental delay, Secundum atrial septal defect, Vesicoureteral reflux, Premature birth, Short stature, Esotropia, Myopia; delayed growth (HP:00001510)" "" "" "" "" "" "" "" "" "" "" "" "0000326503" "04281" "00436323" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326504" "04281" "00436324" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326505" "04281" "00436325" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326506" "04281" "00436326" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326507" "04281" "00436327" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326508" "04281" "00436328" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326509" "04281" "00436329" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326510" "04281" "00436330" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326511" "04281" "00436331" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326512" "04281" "00436332" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326513" "04281" "00436333" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326514" "04281" "00436334" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326527" "04281" "00436348" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326528" "04281" "00436349" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326529" "04281" "00436350" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326530" "04281" "00436351" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000326531" "04281" "00436352" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CDLS1" "Cornelia de Lange syndrome" "" "0000328311" "04270" "00438407" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0002353 eeg abnormality" "6m" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 406 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050450" "00050505" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000102534" "00102083" "1" "01864" "01864" "2017-03-30 08:52:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000180455" "00179552" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180456" "00179553" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180457" "00179554" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180458" "00179555" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180459" "00179556" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180460" "00179557" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 17:54:51" "SEQ" "DNA" "" "" "0000180461" "00179558" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180462" "00179559" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180463" "00179560" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180464" "00179561" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180465" "00179562" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180466" "00179563" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-01-18 18:00:51" "SEQ" "DNA" "" "" "0000180467" "00179564" "1" "01318" "00503" "2008-12-22 13:58:26" "00503" "2010-01-18 18:01:46" "SEQ" "DNA" "" "" "0000180468" "00179565" "1" "01318" "00503" "2009-02-26 16:26:50" "00503" "2010-07-16 10:12:52" "DHPLC;SEQ" "DNA" "" "" "0000180469" "00179566" "1" "01318" "00503" "2009-02-26 16:26:50" "00503" "2010-07-16 10:12:52" "DHPLC;SEQ" "DNA" "" "" "0000180470" "00179567" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180471" "00179568" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180472" "00179569" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180473" "00179570" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 17:55:59" "CSGE;SEQ" "DNA" "" "" "0000180474" "00179571" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180475" "00179572" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 17:55:17" "CSGE;SEQ" "DNA" "" "" "0000180476" "00179573" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180477" "00179574" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180478" "00179575" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180479" "00179576" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180480" "00179577" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180481" "00179578" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180482" "00179579" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000180483" "00179580" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180484" "00179581" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180485" "00179582" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180486" "00179583" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000180487" "00179584" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180488" "00179585" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180489" "00179586" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "CSGE;SEQ" "DNA" "" "" "0000180490" "00179587" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180491" "00179588" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180492" "00179589" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180493" "00179590" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180494" "00179591" "1" "01318" "00503" "2009-03-16 11:19:51" "00503" "2010-07-16 10:14:35" "SEQ" "DNA" "" "" "0000180495" "00179592" "1" "01318" "00503" "2009-03-18 16:46:18" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180496" "00179593" "1" "01318" "00503" "2009-03-18 16:46:18" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180497" "00179594" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180498" "00179595" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180499" "00179596" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180500" "00179597" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180501" "00179598" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180502" "00179599" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180503" "00179600" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180504" "00179601" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180505" "00179602" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180506" "00179603" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180507" "00179604" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180508" "00179605" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180509" "00179606" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180510" "00179607" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180511" "00179608" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180512" "00179609" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180513" "00179610" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180514" "00179611" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180515" "00179612" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180516" "00179613" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180517" "00179614" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180518" "00179615" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180519" "00179616" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2009-04-08 17:52:56" "CSGE;SEQ" "DNA" "" "" "0000180520" "00179617" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180521" "00179618" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 17:51:44" "CSGE;SEQ" "DNA" "" "" "0000180522" "00179619" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180523" "00179620" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180524" "00179621" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180525" "00179622" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180526" "00179623" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180527" "00179624" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180528" "00179625" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180529" "00179626" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180530" "00179627" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180531" "00179628" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180532" "00179629" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-11-26 16:11:57" "CSGE;SEQ" "DNA" "" "" "0000180533" "00179630" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180534" "00179631" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180535" "00179632" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180536" "00179633" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180537" "00179634" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180538" "00179635" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180539" "00179636" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180540" "00179637" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180541" "00179638" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180542" "00179639" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180543" "00179640" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180544" "00179641" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180545" "00179642" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180546" "00179643" "1" "01318" "00503" "2009-03-25 14:07:56" "" "" "CSGE;SEQ" "DNA" "" "" "0000180547" "00179644" "1" "01318" "00503" "2009-03-25 14:07:56" "" "" "CSGE;SEQ" "DNA" "" "" "0000180548" "00179645" "1" "01318" "00503" "2009-03-25 14:07:56" "" "" "CSGE;SEQ" "DNA" "" "" "0000180549" "00179646" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180550" "00179647" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180551" "00179648" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180552" "00179649" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180553" "00179650" "1" "01318" "00503" "2009-03-25 14:07:56" "00503" "2010-07-16 10:14:12" "CSGE;SEQ" "DNA" "" "" "0000180554" "00179651" "1" "01318" "00503" "2009-04-07 16:45:04" "00503" "2010-07-16 10:10:07" "PCR;RT-PCR;SEQ" "RNA;DNA" "" "" "0000180555" "00179652" "1" "01318" "00503" "2009-04-07 17:05:46" "00503" "2010-07-16 10:14:12" "PCR;RT-PCR;SEQ" "RNA;DNA" "" "" "0000180556" "00179653" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 17:48:24" "SEQ" "DNA" "" "" "0000180557" "00179654" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180558" "00179655" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180559" "00179656" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180560" "00179657" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180561" "00179658" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180562" "00179659" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180563" "00179660" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180564" "00179661" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180565" "00179662" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180566" "00179663" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180567" "00179664" "1" "01318" "00503" "2009-04-07 17:19:27" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180568" "00179665" "1" "01318" "00503" "2009-04-07 17:19:27" "" "" "SEQ" "DNA" "" "" "0000180569" "00179666" "1" "01318" "00503" "2009-04-07 17:19:27" "" "" "SEQ" "DNA" "" "" "0000180570" "00179667" "1" "01318" "00503" "2009-04-07 18:38:28" "00503" "2010-07-16 10:14:12" "MLPA;PCR;SEQ" "DNA" "" "" "0000180571" "00179668" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180572" "00179669" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180573" "00179670" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2009-04-08 18:18:51" "SEQ" "DNA" "" "" "0000180574" "00179671" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2009-04-08 18:19:16" "SEQ" "DNA" "" "" "0000180575" "00179672" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180576" "00179673" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180577" "00179674" "1" "01318" "00503" "2009-04-08 12:33:49" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180578" "00179675" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180579" "00179676" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180580" "00179677" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180581" "00179678" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180582" "00179679" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180583" "00179680" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180584" "00179681" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180585" "00179682" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180586" "00179683" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180587" "00179684" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180588" "00179685" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180589" "00179686" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180590" "00179687" "1" "01318" "00503" "2009-04-08 19:24:02" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180591" "00179688" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180592" "00179689" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180593" "00179690" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180594" "00179691" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180595" "00179692" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180596" "00179693" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180597" "00179694" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180598" "00179695" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180599" "00179696" "1" "01318" "00503" "2009-04-13 13:57:47" "00503" "2011-12-12 15:41:37" "DHPLC;SEQ" "DNA" "" "" "0000180600" "00179697" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180601" "00179698" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180602" "00179699" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180603" "00179700" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180604" "00179701" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180605" "00179702" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180606" "00179703" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180607" "00179704" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180608" "00179705" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180609" "00179706" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180610" "00179707" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180611" "00179708" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180612" "00179709" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180613" "00179710" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180614" "00179711" "1" "01318" "00503" "2009-04-13 13:57:47" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180615" "00179712" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180616" "00179713" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180617" "00179714" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180618" "00179715" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180619" "00179716" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;RT-PCR;SEQ" "DNA;RNA" "" "" "0000180620" "00179717" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;RT-PCR;SEQ" "DNA;RNA" "" "" "0000180621" "00179718" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180622" "00179719" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180623" "00179720" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180624" "00179721" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180625" "00179722" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180626" "00179723" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180627" "00179724" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180628" "00179725" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180629" "00179726" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180630" "00179727" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180631" "00179728" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180632" "00179729" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180633" "00179730" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180634" "00179731" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180635" "00179732" "1" "01318" "00503" "2009-04-13 18:43:06" "01318" "2009-04-26 23:52:40" "DHPLC;SEQ" "DNA" "" "" "0000180636" "00179733" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 17:50:13" "DHPLC;SEQ" "DNA" "" "" "0000180637" "00179734" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180638" "00179735" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 10:10:07" "DHPLC;SEQ" "DNA" "" "" "0000180639" "00179736" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 17:52:05" "DHPLC;SEQ" "DNA" "" "" "0000180640" "00179737" "1" "01318" "00503" "2009-04-13 18:43:06" "00503" "2010-07-16 17:48:51" "DHPLC;SEQ" "DNA" "" "" "0000180641" "00179738" "1" "01318" "00503" "2009-04-14 13:40:47" "00503" "2010-07-16 10:14:12" "DHPLC;SEQ" "DNA" "" "" "0000180642" "00179739" "1" "01318" "00503" "2009-04-14 15:46:21" "" "" "SEQ" "?" "" "" "0000180643" "00179740" "1" "01318" "00503" "2009-04-14 15:49:38" "" "" "SEQ" "?" "" "" "0000180644" "00179741" "1" "01318" "00503" "2009-04-14 15:55:58" "" "" "SEQ" "?" "" "" "0000180645" "00179742" "1" "01318" "00503" "2009-04-23 11:56:35" "" "" "CSCE;SEQ" "DNA" "" "" "0000180646" "00179743" "1" "01067" "00503" "2009-09-07 15:42:57" "00503" "2009-09-29 12:57:34" "SEQ" "DNA" "" "" "0000180647" "00179744" "1" "01067" "00503" "2009-09-07 15:48:03" "00503" "2009-09-29 12:54:39" "SEQ" "DNA" "" "" "0000180648" "00179745" "1" "01067" "00503" "2009-09-07 15:52:39" "00503" "2009-09-29 13:02:52" "MLPA" "DNA" "" "" "0000180649" "00179746" "1" "01318" "00503" "2009-09-17 11:10:01" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180650" "00179747" "1" "01318" "00503" "2009-09-17 11:10:01" "00503" "2010-07-16 10:12:52" "SEQ" "DNA" "" "" "0000180651" "00179748" "1" "01067" "00503" "2009-09-17 11:29:09" "" "" "SEQ" "DNA" "" "" "0000180652" "00179749" "1" "01067" "00503" "2009-09-17 11:33:35" "" "" "SEQ" "DNA" "" "" "0000180653" "00179750" "1" "01067" "00503" "2009-09-17 13:38:18" "" "" "DGGE" "DNA" "" "" "0000180654" "00179751" "1" "01067" "00503" "2009-09-17 13:43:38" "" "" "DHPLC" "DNA" "" "" "0000180655" "00179752" "1" "01067" "00503" "2009-09-17 13:51:09" "" "" "DHPLC" "DNA" "" "" "0000180656" "00179753" "1" "01067" "00503" "2009-09-17 13:59:02" "" "" "DHPLC" "DNA" "" "" "0000180657" "00179754" "1" "01067" "00503" "2009-09-17 14:27:11" "" "" "DHPLC" "DNA" "" "" "0000180658" "00179755" "1" "01067" "00503" "2009-09-17 14:32:16" "" "" "DHPLC" "DNA" "" "" "0000180659" "00179756" "1" "01067" "00503" "2009-09-17 14:39:31" "" "" "DHPLC" "DNA" "" "" "0000180660" "00179757" "1" "01067" "00503" "2009-09-18 08:37:33" "" "" "DHPLC" "DNA" "" "" "0000180661" "00179758" "1" "01067" "00503" "2009-09-18 08:44:23" "" "" "DHPLC" "DNA" "" "" "0000180662" "00179759" "1" "01067" "00503" "2009-09-18 08:51:14" "" "" "DHPLC" "DNA" "" "" "0000180663" "00179760" "1" "01067" "00503" "2009-09-18 09:12:40" "" "" "DHPLC" "DNA" "" "" "0000180664" "00179761" "1" "01067" "00503" "2009-09-18 09:28:45" "" "" "DHPLC" "DNA" "" "" "0000180665" "00179762" "1" "01067" "00503" "2009-09-18 09:32:30" "" "" "DHPLC" "DNA" "" "" "0000180666" "00179763" "1" "01067" "00503" "2009-09-18 09:41:07" "" "" "DHPLC" "DNA" "" "" "0000180667" "00179764" "1" "01067" "00503" "2009-09-18 09:58:26" "" "" "DHPLC" "DNA" "" "" "0000180668" "00179765" "1" "01067" "00503" "2009-09-18 10:02:10" "00503" "2010-05-31 11:53:21" "DHPLC" "DNA" "" "" "0000180669" "00179766" "1" "01067" "00503" "2009-09-18 10:46:40" "" "" "DHPLC" "DNA" "" "" "0000180670" "00179767" "1" "01067" "00503" "2009-09-18 13:26:54" "" "" "DHPLC" "DNA" "" "" "0000180671" "00179768" "1" "01067" "00503" "2009-09-22 13:14:49" "" "" "DHPLC" "DNA" "" "" "0000180672" "00179769" "1" "01067" "00503" "2009-09-22 13:25:50" "" "" "DHPLC" "DNA" "" "" "0000180673" "00179770" "1" "01067" "00503" "2009-09-22 13:31:39" "" "" "DHPLC" "DNA" "" "" "0000180674" "00179771" "1" "01067" "00503" "2009-09-22 13:37:38" "" "" "DHPLC" "DNA" "" "" "0000180675" "00179772" "1" "01067" "00503" "2009-09-22 13:46:21" "" "" "DHPLC" "DNA" "" "" "0000180676" "00179773" "1" "01067" "00503" "2009-09-22 13:50:04" "" "" "DHPLC" "DNA" "" "" "0000180677" "00179774" "1" "01067" "00503" "2009-09-22 13:56:13" "" "" "DHPLC" "DNA" "" "" "0000180678" "00179775" "1" "01067" "00503" "2009-09-22 14:00:36" "" "" "DHPLC" "DNA" "" "" "0000180679" "00179776" "1" "01067" "00503" "2009-09-22 14:04:27" "" "" "DHPLC" "DNA" "" "" "0000180680" "00179777" "1" "01067" "00503" "2009-09-22 14:07:51" "" "" "DHPLC" "DNA" "" "" "0000180681" "00179778" "1" "01067" "00503" "2009-09-22 14:11:48" "" "" "DHPLC" "DNA" "" "" "0000180682" "00179779" "1" "01067" "00503" "2009-09-22 14:18:41" "" "" "DHPLC" "DNA" "" "" "0000180683" "00179780" "1" "01067" "00503" "2009-09-22 14:38:02" "" "" "DHPLC" "DNA" "" "" "0000180684" "00179781" "1" "01067" "00503" "2009-09-22 14:43:04" "" "" "DHPLC" "DNA" "" "" "0000180685" "00179782" "1" "01067" "00503" "2009-09-22 15:04:18" "" "" "DHPLC" "DNA" "" "" "0000180686" "00179783" "1" "01067" "00503" "2009-09-22 15:50:39" "" "" "DHPLC" "DNA" "" "" "0000180687" "00179784" "1" "01067" "00503" "2009-09-22 15:54:56" "" "" "DHPLC" "DNA" "" "" "0000180688" "00179785" "1" "01318" "00503" "2009-09-22 15:58:00" "00503" "2011-04-08 10:43:51" "DHPLC" "DNA" "" "" "0000180689" "00179786" "1" "01067" "00503" "2009-09-22 16:02:31" "" "" "DHPLC" "DNA" "" "" "0000180690" "00179787" "1" "01067" "00503" "2009-09-22 16:07:59" "" "" "DHPLC" "DNA" "" "" "0000180691" "00179788" "1" "01067" "00503" "2009-09-22 16:10:58" "" "" "DHPLC" "DNA" "" "" "0000180692" "00179789" "1" "01067" "00503" "2009-09-25 14:55:04" "" "" "DHPLC" "DNA" "" "" "0000180693" "00179790" "1" "01067" "00503" "2009-09-25 14:57:45" "" "" "DHPLC" "DNA" "" "" "0000180694" "00179791" "1" "01067" "00503" "2009-09-25 15:05:36" "" "" "DHPLC" "DNA" "" "" "0000180695" "00179792" "1" "01067" "00503" "2009-09-25 15:10:03" "" "" "DHPLC" "DNA" "" "" "0000180696" "00179793" "1" "01067" "00503" "2009-09-25 15:18:18" "00503" "2009-09-29 12:02:07" "DHPLC" "DNA" "" "" "0000180697" "00179794" "1" "01067" "00503" "2009-09-25 15:21:39" "" "" "DHPLC" "DNA" "" "" "0000180698" "00179795" "1" "01067" "00503" "2009-09-25 15:29:06" "" "" "DHPLC" "DNA" "" "" "0000180699" "00179796" "1" "01067" "00503" "2009-09-25 15:34:34" "" "" "DHPLC" "DNA" "" "" "0000180700" "00179797" "1" "01067" "00503" "2009-09-25 15:38:56" "" "" "DHPLC" "DNA" "" "" "0000180701" "00179798" "1" "01067" "00503" "2009-09-25 15:41:49" "" "" "DHPLC" "DNA" "" "" "0000180702" "00179799" "1" "01067" "00503" "2009-09-25 15:45:06" "" "" "DHPLC" "DNA" "" "" "0000180703" "00179800" "1" "01067" "00503" "2009-09-28 09:37:41" "" "" "DHPLC" "DNA" "" "" "0000180704" "00179801" "1" "01067" "00503" "2010-01-05 11:42:52" "" "" "DHPLC" "DNA" "" "" "0000180705" "00179802" "1" "01321" "00503" "2010-01-18 12:16:03" "00503" "2011-12-15 16:19:30" "SEQ" "DNA" "" "" "0000180706" "00179803" "1" "01321" "00503" "2010-01-27 15:29:05" "00503" "2011-12-15 16:26:12" "SEQ" "DNA" "" "" "0000180707" "00179804" "1" "01067" "00503" "2010-02-12 10:53:23" "" "" "DHPLC" "DNA" "" "" "0000180708" "00179805" "1" "01318" "00503" "2010-04-08 14:17:14" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180709" "00179806" "1" "01318" "00503" "2010-04-08 14:19:12" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180710" "00179807" "1" "01318" "00503" "2010-04-08 15:25:51" "00503" "2010-07-16 10:10:07" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000180711" "00179808" "1" "01318" "00503" "2010-04-08 15:45:41" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180712" "00179809" "1" "01318" "00503" "2010-04-08 15:48:35" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180713" "00179810" "1" "01318" "00503" "2010-04-09 16:55:08" "00503" "2010-07-16 10:10:07" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000180714" "00179811" "1" "01318" "00503" "2010-04-09 17:14:08" "00503" "2010-07-16 17:52:53" "SEQ" "DNA" "" "" "0000180715" "00179812" "1" "01318" "00503" "2010-04-09 17:18:56" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180716" "00179813" "1" "01318" "00503" "2010-04-09 17:39:34" "00503" "2010-07-16 10:10:07" "SEQ" "DNA" "" "" "0000180717" "00179814" "1" "01318" "00503" "2010-04-09 17:50:03" "00503" "2010-07-16 17:51:07" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000180718" "00179815" "1" "01318" "00503" "2010-04-09 19:11:17" "00503" "2010-07-16 17:52:29" "SEQ" "DNA" "" "" "0000180719" "00179816" "1" "00006" "00503" "2010-06-14 22:35:13" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180720" "00179817" "1" "00006" "00503" "2010-06-14 22:35:13" "00503" "2010-07-16 10:14:12" "SEQ" "DNA" "" "" "0000180721" "00179818" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180722" "00179819" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180723" "00179820" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180724" "00179821" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180725" "00179822" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180726" "00179823" "1" "00006" "00503" "2010-06-14 22:35:13" "" "" "SEQ" "DNA" "" "" "0000180727" "00179824" "1" "01318" "00503" "2010-08-31 17:42:51" "00503" "2011-12-15 16:16:22" "SEQ" "DNA" "" "" "0000180728" "00179825" "1" "01320" "00503" "2010-09-08 12:51:02" "00503" "2010-10-27 13:17:00" "arrayCGH;MLPA;PCRlr;SEQ" "DNA" "" "" "0000180729" "00179826" "1" "01320" "00503" "2010-09-08 14:10:33" "00503" "2011-07-28 10:13:38" "DHPLC;SEQ" "DNA" "" "" "0000180730" "00179827" "1" "01320" "00503" "2010-09-22 12:27:17" "00503" "2011-07-28 10:12:09" "DHPLC;SEQ" "DNA" "" "" "0000180731" "00179828" "1" "00006" "00503" "2010-09-22 16:27:49" "00503" "2011-01-07 16:03:02" "SEQ" "DNA" "" "" "0000180732" "00179829" "1" "01067" "00503" "2010-10-15 14:02:45" "" "" "SEQ" "DNA" "" "" "0000180733" "00179830" "1" "01067" "00503" "2010-10-15 14:10:31" "" "" "SEQ" "DNA" "" "" "0000180734" "00179831" "1" "01067" "00503" "2010-10-15 14:32:21" "00503" "2010-10-20 11:11:48" "SEQ" "DNA" "" "" "0000180735" "00179832" "1" "01067" "00503" "2010-10-15 14:38:55" "" "" "SEQ" "DNA" "" "" "0000180736" "00179833" "1" "01067" "00503" "2010-10-15 14:44:11" "" "" "SEQ" "DNA" "" "" "0000180737" "00179834" "1" "01067" "00503" "2010-10-15 14:47:36" "" "" "SEQ" "DNA" "" "" "0000180738" "00179835" "1" "00503" "00503" "2010-11-26 13:32:17" "00503" "2010-11-26 13:40:27" "CSCE;SEQ" "DNA" "" "" "0000180739" "00179836" "1" "00503" "00503" "2010-11-26 15:37:53" "" "" "CSGE;SEQ" "DNA" "" "" "0000180740" "00179837" "1" "00503" "00503" "2010-11-26 16:28:58" "" "" "CSGE;SEQ" "DNA" "" "" "0000180741" "00179838" "1" "00503" "00503" "2010-11-26 16:40:01" "" "" "CSGE;SEQ" "DNA" "" "" "0000180742" "00179839" "1" "00503" "00503" "2010-11-26 16:50:31" "" "" "CSGE;SEQ" "DNA" "" "" "0000180743" "00179840" "1" "00503" "00503" "2010-11-26 17:03:55" "" "" "CSGE;SEQ" "DNA" "" "" "0000180744" "00179841" "1" "00503" "00503" "2010-11-29 13:43:23" "" "" "CSGE;SEQ" "DNA" "" "" "0000180745" "00179842" "1" "00503" "00503" "2010-11-29 13:50:06" "" "" "CSGE;SEQ" "DNA" "" "" "0000180746" "00179843" "1" "00503" "00503" "2010-11-29 13:52:28" "00503" "2010-11-29 13:53:08" "CSGE;SEQ" "DNA" "" "" "0000180747" "00179844" "1" "00503" "00503" "2010-11-29 13:56:20" "" "" "CSGE;SEQ" "DNA" "" "" "0000180748" "00179845" "1" "00503" "00503" "2010-11-29 14:03:40" "" "" "CSGE;SEQ" "DNA" "" "" "0000180749" "00179846" "1" "00503" "00503" "2010-11-29 14:05:54" "" "" "SEQ" "DNA" "" "" "0000180750" "00179847" "1" "00503" "00503" "2011-04-08 10:19:09" "00503" "2011-04-08 10:37:20" "?" "DNA" "" "" "0000180751" "00179848" "1" "00503" "00503" "2011-04-08 10:24:54" "00503" "2011-04-08 10:38:46" "?" "DNA" "" "" "0000180752" "00179849" "1" "01320" "00503" "2011-06-06 11:08:55" "00503" "2011-06-06 12:46:58" "SEQ" "DNA" "" "" "0000180753" "00179850" "1" "01320" "00503" "2011-06-06 11:48:12" "00503" "2011-06-06 12:44:18" "SEQ" "DNA" "" "" "0000180754" "00179851" "1" "01320" "00503" "2011-06-06 12:16:10" "" "" "SEQ" "DNA" "" "" "0000180755" "00179852" "1" "01067" "00503" "2011-07-07 11:28:07" "" "" "SEQ" "DNA" "" "" "0000180756" "00179853" "1" "01067" "00503" "2011-07-07 11:34:05" "00503" "2011-07-21 11:16:25" "SEQ" "DNA" "" "" "0000180757" "00179854" "1" "01067" "00503" "2011-07-07 11:41:49" "" "" "SEQ" "DNA" "" "" "0000180758" "00179855" "1" "01067" "00503" "2011-07-07 11:47:01" "" "" "SEQ" "DNA" "" "" "0000180759" "00179856" "1" "01067" "00503" "2011-07-07 12:50:43" "" "" "SEQ" "DNA" "" "" "0000180760" "00179857" "1" "01067" "00503" "2011-07-07 12:55:51" "" "" "SEQ" "DNA" "" "" "0000180761" "00179858" "1" "01067" "00503" "2011-07-07 13:02:16" "" "" "SEQ" "DNA" "" "" "0000180762" "00179859" "1" "01067" "00503" "2011-07-07 13:08:41" "" "" "SEQ" "DNA" "" "" "0000180763" "00179860" "1" "01320" "00503" "2011-07-21 13:09:05" "" "" "SEQ" "DNA" "" "" "0000180764" "00179861" "1" "01320" "00503" "2011-07-21 13:31:53" "" "" "SEQ" "DNA" "" "" "0000180765" "00179862" "1" "01320" "00503" "2011-07-21 13:48:22" "00503" "2011-07-28 10:11:17" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000180766" "00179863" "1" "01321" "00503" "2011-12-15 15:28:08" "00503" "2012-06-05 15:31:49" "MCA;SEQ" "DNA" "" "" "0000180767" "00179864" "1" "01321" "00503" "2011-12-15 15:45:41" "00503" "2011-12-15 15:46:59" "SEQ" "DNA" "" "" "0000180768" "00179865" "1" "01321" "00503" "2011-12-15 16:00:43" "00503" "2012-06-05 15:30:52" "MLPA" "DNA" "" "" "0000180769" "00179866" "1" "01321" "00503" "2011-12-15 16:13:02" "00503" "2012-06-05 15:34:22" "SEQ" "DNA" "" "" "0000180770" "00179867" "1" "01321" "00503" "2012-06-05 15:46:56" "" "" "MLPA" "DNA" "" "" "0000180771" "00179868" "1" "01321" "00503" "2012-06-05 15:56:31" "" "" "SEQ" "DNA" "" "" "0000180772" "00179869" "1" "01322" "00503" "2012-11-22 16:33:57" "" "" "PCR;SEQ" "DNA" "" "" "0000180773" "00179870" "1" "01322" "00503" "2012-11-22 16:51:53" "01322" "2013-01-08 15:31:46" "PCR;SEQ" "DNA" "" "" "0000180774" "00179871" "1" "01322" "00503" "2012-11-22 16:58:20" "01322" "2013-01-08 15:33:20" "PCR;SEQ" "DNA" "" "" "0000180775" "00179872" "1" "01322" "00503" "2013-01-08 15:42:57" "" "" "PCR;SEQ" "DNA" "" "" "0000180776" "00179873" "1" "01322" "00503" "2013-01-08 15:48:02" "" "" "PCR;SEQ" "DNA" "" "" "0000180777" "00179874" "1" "01322" "00503" "2013-01-08 15:51:19" "" "" "PCR;SEQ" "DNA" "" "" "0000180778" "00179875" "1" "01323" "00503" "2013-08-01 16:43:16" "00503" "2013-08-05 10:19:39" "PCR;RT-PCR;SEQ;SEQ-NG-I" "RNA;DNA" "" "" "0000180781" "00179878" "1" "01325" "00503" "2014-07-09 13:20:54" "" "" "SEQ" "DNA" "" "" "0000180782" "00179879" "1" "01325" "00503" "2014-07-09 13:28:24" "" "" "SEQ" "DNA" "" "" "0000180783" "00179880" "1" "01325" "00503" "2014-07-09 13:32:06" "" "" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000180785" "00179882" "1" "02558" "00503" "2017-05-27 17:52:19" "00503" "2017-06-01 10:26:21" "RT-PCR" "RNA;DNA" "" "" "0000180786" "00179883" "1" "02558" "00503" "2017-05-27 17:56:54" "00503" "2017-06-01 10:27:19" "RT-PCR" "RNA;DNA" "" "" "0000180787" "00179884" "1" "02558" "00503" "2017-05-27 18:01:22" "00503" "2017-06-01 10:28:56" "RT-PCR" "RNA;DNA" "" "" "0000180788" "00179885" "1" "02558" "00503" "2017-05-27 18:05:29" "00503" "2017-06-01 10:28:24" "RT-PCR" "RNA;DNA" "" "" "0000180789" "00179886" "1" "02558" "00503" "2017-05-27 18:10:31" "00503" "2017-06-01 10:44:22" "RT-PCR" "RNA;DNA" "" "" "0000180790" "00179887" "1" "02558" "00503" "2017-05-27 19:11:15" "00503" "2017-06-01 10:31:10" "RT-PCR" "RNA;DNA" "" "" "0000180791" "00179888" "1" "02558" "00503" "2017-05-27 19:16:39" "00503" "2017-06-01 10:36:43" "RT-PCR" "RNA;DNA" "" "" "0000180792" "00179889" "1" "02558" "00503" "2017-05-27 19:19:55" "00503" "2017-06-01 10:38:24" "RT-PCR" "RNA;DNA" "" "" "0000180793" "00179890" "1" "02558" "00503" "2017-05-27 19:21:51" "00503" "2017-06-01 10:41:16" "RT-PCR" "RNA;DNA" "" "" "0000180794" "00179891" "1" "02558" "00503" "2017-05-27 19:32:10" "00503" "2017-06-01 10:57:45" "RT-PCR" "RNA;DNA" "" "" "0000180795" "00179892" "1" "02558" "00503" "2017-05-27 19:42:13" "00503" "2017-06-01 10:35:55" "RT-PCR" "RNA;DNA" "" "" "0000180796" "00179893" "1" "02558" "00503" "2017-05-27 19:52:02" "00503" "2017-06-01 11:43:04" "RT-PCR" "RNA;DNA" "" "" "0000180797" "00179894" "1" "01175" "00503" "2017-07-27 09:00:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000180798" "00179895" "1" "01175" "00503" "2017-07-27 09:04:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000184627" "00183659" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000214553" "00213483" "1" "00006" "00006" "2019-01-12 20:05:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277193" "00276046" "1" "01807" "01807" "2020-01-24 11:02:52" "" "" "SEQ" "DNA" "" "" "0000295011" "00293843" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295012" "00293844" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295013" "00293845" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295014" "00293846" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295016" "00293848" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295017" "00293849" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295018" "00293850" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295019" "00293851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295020" "00293852" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295021" "00293853" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295022" "00293854" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295023" "00293855" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295024" "00293856" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295025" "00293857" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295026" "00293858" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295027" "00293859" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296619" "00295451" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297155" "00295984" "1" "01164" "01164" "2020-04-01 11:00:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000307361" "00306228" "1" "03695" "03695" "2020-07-11 10:42:53" "" "" "SEQ-NG" "DNA" "" "" "0000316193" "00315017" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316194" "00315018" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000332747" "00331528" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000336609" "00335380" "1" "01164" "01164" "2021-03-05 14:07:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000375310" "00374117" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000375611" "00374417" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375612" "00374418" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375749" "00374555" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375750" "00374556" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375835" "00374641" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375983" "00374789" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375984" "00374790" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375985" "00374791" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375986" "00374792" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375987" "00374793" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378773" "00377569" "1" "04131" "04131" "2021-07-26 11:14:03" "" "" "SEQ-NG-IT" "DNA" "Blood" "" "0000380880" "00379679" "1" "03508" "03508" "2021-08-06 09:46:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000382048" "00380834" "1" "00000" "03840" "2021-08-23 12:17:56" "" "" "SEQ-NG-I" "DNA" "blood" "AmpliSeqTM Inherited Disease Panel covering 325 genes" "0000392257" "00391016" "1" "01164" "01164" "2021-11-12 11:48:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000409138" "00407886" "1" "04178" "04178" "2022-04-10 10:09:13" "" "" "SEQ" "DNA" "White blood cells" "Bidirection seq." "0000420941" "00419637" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427459" "00426139" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434609" "00433155" "1" "01164" "01164" "2023-03-01 21:14:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000437806" "00436323" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437807" "00436324" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437808" "00436325" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437809" "00436326" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437810" "00436327" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437811" "00436328" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437812" "00436329" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437813" "00436330" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437814" "00436331" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437815" "00436332" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437816" "00436333" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437817" "00436334" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437830" "00436348" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437831" "00436349" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437832" "00436350" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437833" "00436351" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437834" "00436352" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000439889" "00438407" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 365 "{{screeningid}}" "{{geneid}}" "0000050450" "NIPBL" "0000102534" "NIPBL" "0000180455" "NIPBL" "0000180456" "NIPBL" "0000180457" "NIPBL" "0000180458" "NIPBL" "0000180459" "NIPBL" "0000180460" "NIPBL" "0000180461" "NIPBL" "0000180462" "NIPBL" "0000180463" "NIPBL" "0000180464" "NIPBL" "0000180465" "NIPBL" "0000180466" "NIPBL" "0000180467" "NIPBL" "0000180468" "NIPBL" "0000180469" "NIPBL" "0000180470" "NIPBL" "0000180471" "NIPBL" "0000180472" "NIPBL" "0000180473" "NIPBL" "0000180474" "NIPBL" "0000180475" "NIPBL" "0000180476" "NIPBL" "0000180477" "NIPBL" "0000180478" "NIPBL" "0000180479" "NIPBL" "0000180480" "NIPBL" "0000180481" "NIPBL" "0000180482" "NIPBL" "0000180483" "NIPBL" "0000180484" "NIPBL" "0000180485" "NIPBL" "0000180486" "NIPBL" "0000180487" "NIPBL" "0000180488" "NIPBL" "0000180489" "NIPBL" "0000180490" "NIPBL" "0000180491" "NIPBL" "0000180492" "NIPBL" "0000180493" "NIPBL" "0000180494" "NIPBL" "0000180495" "NIPBL" "0000180496" "NIPBL" "0000180497" "NIPBL" "0000180498" "NIPBL" "0000180499" "NIPBL" "0000180500" "NIPBL" "0000180501" "NIPBL" "0000180502" "NIPBL" "0000180503" "NIPBL" "0000180504" "NIPBL" "0000180505" "NIPBL" "0000180506" "NIPBL" "0000180507" "NIPBL" "0000180508" "NIPBL" "0000180509" "NIPBL" "0000180510" "NIPBL" "0000180511" "NIPBL" "0000180512" "NIPBL" "0000180513" "NIPBL" "0000180514" "NIPBL" "0000180515" "NIPBL" "0000180516" "NIPBL" "0000180517" "NIPBL" "0000180518" "NIPBL" "0000180519" "NIPBL" "0000180520" "NIPBL" "0000180521" "NIPBL" "0000180522" "NIPBL" "0000180523" "NIPBL" "0000180524" "NIPBL" "0000180525" "NIPBL" "0000180526" "NIPBL" "0000180527" "NIPBL" "0000180528" "NIPBL" "0000180529" "NIPBL" "0000180530" "NIPBL" "0000180531" "NIPBL" "0000180532" "NIPBL" "0000180533" "NIPBL" "0000180534" "NIPBL" "0000180535" "NIPBL" "0000180536" "NIPBL" "0000180537" "NIPBL" "0000180538" "NIPBL" "0000180539" "NIPBL" "0000180540" "NIPBL" "0000180541" "NIPBL" "0000180542" "NIPBL" "0000180543" "NIPBL" "0000180544" "NIPBL" "0000180545" "NIPBL" "0000180546" "NIPBL" "0000180547" "NIPBL" "0000180548" "NIPBL" "0000180549" "NIPBL" "0000180550" "NIPBL" "0000180551" "NIPBL" "0000180552" "NIPBL" "0000180553" "NIPBL" "0000180554" "NIPBL" "0000180555" "NIPBL" "0000180556" "NIPBL" "0000180557" "NIPBL" "0000180558" "NIPBL" "0000180559" "NIPBL" "0000180560" "NIPBL" "0000180561" "NIPBL" "0000180562" "NIPBL" "0000180563" "NIPBL" "0000180564" "NIPBL" "0000180565" "NIPBL" "0000180566" "NIPBL" "0000180567" "NIPBL" "0000180568" "NIPBL" "0000180569" "NIPBL" "0000180570" "NIPBL" "0000180571" "NIPBL" "0000180572" "NIPBL" "0000180573" "NIPBL" "0000180574" "NIPBL" "0000180575" "NIPBL" "0000180576" "NIPBL" "0000180577" "NIPBL" "0000180578" "NIPBL" "0000180579" "NIPBL" "0000180580" "NIPBL" "0000180581" "NIPBL" "0000180582" "NIPBL" "0000180583" "NIPBL" "0000180584" "NIPBL" "0000180585" "NIPBL" "0000180586" "NIPBL" "0000180587" "NIPBL" "0000180588" "NIPBL" "0000180589" "NIPBL" "0000180590" "NIPBL" "0000180591" "NIPBL" "0000180592" "NIPBL" "0000180593" "NIPBL" "0000180594" "NIPBL" "0000180595" "NIPBL" "0000180596" "NIPBL" "0000180597" "NIPBL" "0000180598" "NIPBL" "0000180599" "NIPBL" "0000180600" "NIPBL" "0000180601" "NIPBL" "0000180602" "NIPBL" "0000180603" "NIPBL" "0000180604" "NIPBL" "0000180605" "NIPBL" "0000180606" "NIPBL" "0000180607" "NIPBL" "0000180608" "NIPBL" "0000180609" "NIPBL" "0000180610" "NIPBL" "0000180611" "NIPBL" "0000180612" "NIPBL" "0000180613" "NIPBL" "0000180614" "NIPBL" "0000180615" "NIPBL" "0000180616" "NIPBL" "0000180617" "NIPBL" "0000180618" "NIPBL" "0000180619" "NIPBL" "0000180620" "NIPBL" "0000180621" "NIPBL" "0000180622" "NIPBL" "0000180623" "NIPBL" "0000180624" "NIPBL" "0000180625" "NIPBL" "0000180626" "NIPBL" "0000180627" "NIPBL" "0000180628" "NIPBL" "0000180629" "NIPBL" "0000180630" "NIPBL" "0000180631" "NIPBL" "0000180632" "NIPBL" "0000180633" "NIPBL" "0000180634" "NIPBL" "0000180635" "NIPBL" "0000180636" "NIPBL" "0000180637" "NIPBL" "0000180638" "NIPBL" "0000180639" "NIPBL" "0000180640" "NIPBL" "0000180641" "NIPBL" "0000180642" "NIPBL" "0000180643" "NIPBL" "0000180644" "NIPBL" "0000180645" "NIPBL" "0000180646" "NIPBL" "0000180647" "NIPBL" "0000180648" "NIPBL" "0000180649" "NIPBL" "0000180650" "NIPBL" "0000180651" "NIPBL" "0000180652" "NIPBL" "0000180653" "NIPBL" "0000180654" "NIPBL" "0000180655" "NIPBL" "0000180656" "NIPBL" "0000180657" "NIPBL" "0000180658" "NIPBL" "0000180659" "NIPBL" "0000180660" "NIPBL" "0000180661" "NIPBL" "0000180662" "NIPBL" "0000180663" "NIPBL" "0000180664" "NIPBL" "0000180665" "NIPBL" "0000180666" "NIPBL" "0000180667" "NIPBL" "0000180668" "NIPBL" "0000180669" "NIPBL" "0000180670" "NIPBL" "0000180671" "NIPBL" "0000180672" "NIPBL" "0000180673" "NIPBL" "0000180674" "NIPBL" "0000180675" "NIPBL" "0000180676" "NIPBL" "0000180677" "NIPBL" "0000180678" "NIPBL" "0000180679" "NIPBL" "0000180680" "NIPBL" "0000180681" "NIPBL" "0000180682" "NIPBL" "0000180683" "NIPBL" "0000180684" "NIPBL" "0000180685" "NIPBL" "0000180686" "NIPBL" "0000180687" "NIPBL" "0000180688" "NIPBL" "0000180689" "NIPBL" "0000180690" "NIPBL" "0000180691" "NIPBL" "0000180692" "NIPBL" "0000180693" "NIPBL" "0000180694" "NIPBL" "0000180695" "NIPBL" "0000180696" "NIPBL" "0000180697" "NIPBL" "0000180698" "NIPBL" "0000180699" "NIPBL" "0000180700" "NIPBL" "0000180701" "NIPBL" "0000180702" "NIPBL" "0000180703" "NIPBL" "0000180704" "NIPBL" "0000180705" "NIPBL" "0000180706" "NIPBL" "0000180707" "NIPBL" "0000180708" "NIPBL" "0000180709" "NIPBL" "0000180710" "NIPBL" "0000180711" "NIPBL" "0000180712" "NIPBL" "0000180713" "NIPBL" "0000180714" "NIPBL" "0000180715" "NIPBL" "0000180716" "NIPBL" "0000180717" "NIPBL" "0000180718" "NIPBL" "0000180719" "NIPBL" "0000180720" "NIPBL" "0000180721" "NIPBL" "0000180722" "NIPBL" "0000180723" "NIPBL" "0000180724" "NIPBL" "0000180725" "NIPBL" "0000180726" "NIPBL" "0000180727" "NIPBL" "0000180728" "NIPBL" "0000180729" "NIPBL" "0000180730" "NIPBL" "0000180731" "NIPBL" "0000180732" "NIPBL" "0000180733" "NIPBL" "0000180734" "NIPBL" "0000180735" "NIPBL" "0000180736" "NIPBL" "0000180737" "NIPBL" "0000180738" "NIPBL" "0000180739" "NIPBL" "0000180740" "NIPBL" "0000180741" "NIPBL" "0000180742" "NIPBL" "0000180743" "NIPBL" "0000180744" "NIPBL" "0000180745" "NIPBL" "0000180746" "NIPBL" "0000180747" "NIPBL" "0000180748" "NIPBL" "0000180749" "NIPBL" "0000180750" "NIPBL" "0000180751" "NIPBL" "0000180752" "NIPBL" "0000180753" "NIPBL" "0000180754" "NIPBL" "0000180755" "NIPBL" "0000180756" "NIPBL" "0000180757" "NIPBL" "0000180758" "NIPBL" "0000180759" "NIPBL" "0000180760" "NIPBL" "0000180761" "NIPBL" "0000180762" "NIPBL" "0000180763" "NIPBL" "0000180764" "NIPBL" "0000180765" "NIPBL" "0000180766" "NIPBL" "0000180767" "NIPBL" "0000180768" "NIPBL" "0000180769" "NIPBL" "0000180770" "NIPBL" "0000180771" "NIPBL" "0000180772" "NIPBL" "0000180773" "NIPBL" "0000180774" "NIPBL" "0000180775" "NIPBL" "0000180776" "NIPBL" "0000180777" "NIPBL" "0000180778" "NIPBL" "0000180781" "NIPBL" "0000180782" "NIPBL" "0000180783" "NIPBL" "0000180785" "NIPBL" "0000180786" "NIPBL" "0000180787" "NIPBL" "0000180788" "NIPBL" "0000180789" "NIPBL" "0000180790" "NIPBL" "0000180791" "NIPBL" "0000180792" "NIPBL" "0000180793" "NIPBL" "0000180794" "NIPBL" "0000180795" "NIPBL" "0000180796" "NIPBL" "0000180797" "NIPBL" "0000180798" "NIPBL" "0000184627" "NIPBL" "0000214553" "PPP2CA" "0000307361" "NIPBL" "0000316193" "NIPBL" "0000316194" "NIPBL" "0000332747" "NIPBL" "0000336609" "NIPBL" "0000375310" "NIPBL" "0000375611" "NIPBL" "0000375612" "NIPBL" "0000375749" "NIPBL" "0000375750" "NIPBL" "0000375835" "ACADS" "0000375983" "NIPBL" "0000375984" "NIPBL" "0000375985" "NIPBL" "0000375986" "NIPBL" "0000375987" "NIPBL" "0000382048" "NIPBL" "0000392257" "NIPBL" "0000409138" "NIPBL" "0000434609" "NIPBL" ## 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 = 520 "{{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}}" "0000079430" "0" "90" "5" "37017185" "37017185" "subst" "0" "00006" "NIPBL_000301" "g.37017185G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.37017083G>C" "" "pathogenic" "" "0000165276" "0" "90" "5" "36971139" "36971139" "subst" "0" "01864" "NIPBL_000302" "g.36971139G>C" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.36971037G>C" "" "pathogenic" "" "0000248871" "0" "10" "5" "36985303" "36985303" "subst" "0.137279" "02325" "NIPBL_000307" "g.36985303A>G" "" "" "" "NIPBL(NM_015384.5):c.2021A>G (p.N674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36985201A>G" "" "benign" "" "0000249071" "0" "10" "5" "37001074" "37001074" "subst" "0.137092" "02325" "NIPBL_000310" "g.37001074A>G" "" "" "" "NIPBL(NM_015384.5):c.3575-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37000972A>G" "" "benign" "" "0000249368" "0" "30" "5" "37008115" "37008115" "subst" "0.000557391" "02325" "NIPBL_000312" "g.37008115A>C" "" "" "" "NIPBL(NM_015384.5):c.4245A>C (p.S1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37008013A>C" "" "likely benign" "" "0000296487" "0" "30" "5" "37044446" "37044446" "subst" "0.00408569" "02325" "NIPBL_000315" "g.37044446T>C" "" "" "" "NIPBL(NM_015384.4):c.6109-3T>C (, p.?), NIPBL(NM_015384.5):c.6109-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37044344T>C" "" "likely benign" "" "0000304172" "0" "30" "5" "37006500" "37006500" "subst" "0.000621992" "01943" "NIPBL_000311" "g.37006500T>C" "" "" "" "NIPBL(NM_015384.4):c.3897T>C (p.L1299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37006398T>C" "" "likely benign" "" "0000304173" "0" "30" "5" "37008187" "37008187" "subst" "0.00000814511" "01943" "NIPBL_000313" "g.37008187T>G" "" "" "" "NIPBL(NM_015384.4):c.4317T>G (p.T1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37008085T>G" "" "likely benign" "" "0000304174" "0" "10" "5" "37044446" "37044446" "subst" "0.00408569" "01943" "NIPBL_000315" "g.37044446T>C" "" "" "" "NIPBL(NM_015384.4):c.6109-3T>C (, p.?), NIPBL(NM_015384.5):c.6109-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37044344T>C" "" "benign" "" "0000304175" "0" "30" "5" "37060961" "37060961" "subst" "0" "01943" "NIPBL_000320" "g.37060961C>T" "" "" "" "NIPBL(NM_015384.4):c.7701C>T (p.Y2567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37060859C>T" "" "likely benign" "" "0000330311" "0" "50" "5" "36962273" "36962273" "subst" "0" "01804" "NIPBL_000304" "g.36962273G>T" "" "" "" "NIPBL(NM_015384.4):c.507G>T (p.(Gln169His)), NIPBL(NM_015384.5):c.507G>T (p.Q169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36962171G>T" "" "VUS" "" "0000330312" "0" "50" "5" "36975949" "36975949" "subst" "0.00000409544" "01804" "NIPBL_000305" "g.36975949A>G" "" "" "" "NIPBL(NM_015384.4):c.940A>G (p.(Ile314Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36975847A>G" "" "VUS" "" "0000330313" "0" "30" "5" "36976512" "36976514" "del" "0" "01804" "NIPBL_000306" "g.36976512_36976514del" "" "" "" "NIPBL(NM_015384.4):c.1495+8_1495+10del (p.(=)), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36976410_36976412del" "" "likely benign" "" "0000330317" "0" "50" "5" "37048741" "37048741" "subst" "0" "01804" "NIPBL_000317" "g.37048741G>A" "" "" "" "NIPBL(NM_015384.4):c.6727G>A (p.(Glu2243Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37048639G>A" "" "VUS" "" "0000330318" "0" "50" "5" "37049406" "37049406" "subst" "0.0000284557" "01804" "NIPBL_000318" "g.37049406A>G" "" "" "" "NIPBL(NM_015384.4):c.6954+3A>G (p.?), NIPBL(NM_015384.5):c.6954+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37049304A>G" "" "VUS" "" "0000330319" "0" "50" "5" "37057386" "37057386" "subst" "0" "01804" "NIPBL_000319" "g.37057386C>G" "" "" "" "NIPBL(NM_015384.4):c.7362C>G (p.(Asp2454Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37057284C>G" "" "VUS" "" "0000337876" "0" "10" "5" "37001074" "37001074" "subst" "0.137092" "02327" "NIPBL_000310" "g.37001074A>G" "" "" "" "NIPBL(NM_015384.5):c.3575-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37000972A>G" "" "benign" "" "0000337877" "0" "70" "5" "37001089" "37001089" "subst" "0" "02327" "NIPBL_000324" "g.37001089A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37000987A>G" "" "likely pathogenic" "" "0000339927" "0" "10" "5" "37036492" "37036492" "subst" "0.150352" "02327" "NIPBL_000328" "g.37036492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37036390C>T" "" "benign" "" "0000341293" "0" "90" "5" "37052573" "37052573" "subst" "0" "02327" "NIPBL_000331" "g.37052573G>A" "" "" "" "NIPBL(NM_015384.5):c.7168G>A (p.A2390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37052471G>A" "" "pathogenic" "" "0000343291" "0" "50" "5" "36985411" "36985411" "subst" "0.0000204267" "02327" "NIPBL_000323" "g.36985411G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36985309G>A" "" "VUS" "" "0000343814" "0" "10" "5" "36985303" "36985303" "subst" "0.137279" "02327" "NIPBL_000307" "g.36985303A>G" "" "" "" "NIPBL(NM_015384.5):c.2021A>G (p.N674S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36985201A>G" "" "benign" "" "0000344125" "0" "50" "5" "36984804" "36984804" "subst" "0" "02327" "NIPBL_000322" "g.36984804G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36984702G>C" "" "VUS" "" "0000348905" "0" "30" "5" "36972114" "36972114" "subst" "0" "02327" "NIPBL_000321" "g.36972114C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36972012C>T" "" "likely benign" "" "0000350751" "0" "70" "5" "37022138" "37022138" "subst" "0" "02327" "NIPBL_000326" "g.37022138A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37022036A>G" "" "likely pathogenic" "" "0000351138" "0" "90" "5" "37006691" "37006691" "subst" "0" "02327" "NIPBL_000325" "g.37006691G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37006589G>T" "" "pathogenic" "" "0000351141" "0" "70" "5" "37051991" "37051991" "subst" "0" "02327" "NIPBL_000330" "g.37051991A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37051889A>T" "" "likely pathogenic" "" "0000403965" "0" "90" "5" "36955569" "36955569" "subst" "0" "01318" "NIPBL_000008" "g.36955569A>G" "" "" "" "" "New acceptor splice site (bioinformatic prediction)" "De novo" "" "" "0" "" "" "g.36955467A>G" "" "pathogenic" "" "0000403966" "0" "90" "5" "36976454" "36976457" "del" "0" "01318" "NIPBL_000021" "g.36976454_36976457del" "" "{PMID:Oliveira 2010:20824775}" "" "1445_1448delGAGA" "" "De novo" "" "" "0" "" "" "g.36976352_36976355del" "" "pathogenic" "" "0000403967" "0" "90" "5" "36985552" "36985552" "del" "0" "01318" "NIPBL_000022" "g.36985552del" "" "{PMID:Oliveira 2010:20824775}" "" "2270delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985450del" "" "pathogenic" "" "0000403968" "0" "90" "5" "36985704" "36985704" "subst" "0" "01318" "NIPBL_000005" "g.36985704C>T" "" "{PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.36985602C>T" "" "pathogenic" "" "0000403969" "0" "70" "5" "37000990" "37000990" "subst" "0" "01318" "NIPBL_000007" "g.37000990G>A" "" "{PMID:Oliveira 2010:20824775}" "" "" "not in 150 controls" "De novo" "" "" "0" "" "" "g.37000888G>A" "" "likely pathogenic" "" "0000403970" "0" "90" "5" "37010188" "37010188" "subst" "0" "01318" "NIPBL_000009" "g.37010188G>A" "" "{PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.37010086G>A" "" "pathogenic" "" "0000403971" "0" "90" "5" "37024706" "37024706" "subst" "0" "01318" "NIPBL_000010" "g.37024706G>C" "" "{PMID:Oliveira 2010:20824775}" "" "" "not in 150 controls" "De novo" "" "" "0" "" "" "g.37024604G>C" "" "pathogenic" "" "0000403972" "0" "90" "5" "37048667" "37048669" "del" "0" "01318" "NIPBL_000004" "g.37048667_37048669del" "" "" "" "6653_6655delATA" "" "De novo" "" "" "0" "" "" "g.37048565_37048567del" "" "pathogenic" "" "0000403973" "0" "90" "5" "37052573" "37052573" "subst" "0" "01318" "NIPBL_000002" "g.37052573G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37052471G>A" "" "pathogenic" "" "0000403974" "0" "90" "5" "37061093" "37061094" "dup" "0" "01318" "NIPBL_000001" "g.37061093_37061094dup" "" "{PMID:Oliveira 2010:20824775}" "" "7833_7834dupAA" "" "De novo" "" "" "0" "" "" "g.37060991_37060992dup" "" "pathogenic" "" "0000403975" "0" "90" "5" "37064943" "37064943" "del" "0" "01318" "NIPBL_000003" "g.37064943del" "" "{PMID:Oliveira 2010:20824775}" "" "8364delT" "" "De novo" "" "" "0" "" "" "g.37064841del" "" "pathogenic" "" "0000403976" "0" "90" "5" "37064956" "37064956" "subst" "0" "01318" "NIPBL_000006" "g.37064956C>T" "" "{PMID:Oliveira 2010:20824775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37064854C>T" "" "pathogenic" "" "0000403977" "0" "90" "5" "37064956" "37064956" "subst" "0" "01318" "NIPBL_000006" "g.37064956C>T" "" "{PMID:Oliveira 2010:20824775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37064854C>T" "" "pathogenic" "" "0000403978" "0" "90" "5" "37044507" "37044507" "subst" "0" "01318" "NIPBL_000011" "g.37044507C>T" "" "{PMID:Lalatta 2007:17413424}" "" "" "affects residue on HEAT domain; not in 260 controls" "De novo" "" "" "0" "" "" "g.37044405C>T" "" "pathogenic" "" "0000403979" "0" "90" "5" "37059051" "37059051" "subst" "0" "01318" "NIPBL_000024" "g.37059051C>G" "" "{PMID:Lalatta 2007:17413424}" "" "" "" "De novo" "" "" "0" "" "" "g.37058949C>G" "" "pathogenic" "" "0000403980" "0" "90" "5" "36953800" "36953800" "subst" "0" "01318" "NIPBL_000034" "g.36953800T>A" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "2G-A (M1K)" "" "De novo" "" "" "0" "" "" "g.36953698T>A" "" "pathogenic" "" "0000403981" "0" "90" "5" "36953800" "36953800" "subst" "0" "01318" "NIPBL_000034" "g.36953800T>A" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "2G-A (M1K)" "" "De novo" "" "" "0" "" "" "g.36953698T>A" "" "pathogenic" "" "0000403982" "0" "90" "5" "36953800" "36953800" "subst" "0" "01318" "NIPBL_000034" "g.36953800T>A" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "2G-A (M1K)" "" "De novo" "" "" "0" "" "" "g.36953698T>A" "" "pathogenic" "" "0000403983" "0" "90" "5" "36955659" "36955659" "del" "0" "01318" "NIPBL_000035" "g.36955659del" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "150delG" "" "De novo" "" "" "0" "" "" "g.36955557del" "" "pathogenic" "" "0000403984" "0" "90" "5" "36958322" "36958322" "dup" "0" "01318" "NIPBL_000040" "g.36958322dup" "" "{PMID:Tonkin 2004:15146185}" "" "347dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36958220dup" "" "pathogenic" "" "0000403985" "0" "90" "5" "36984829" "36984829" "dup" "0" "01318" "NIPBL_000036" "g.36984829dup" "" "{PMID:Krantz 2004:15146186}" "" "1546-1547insG" "" "De novo" "" "" "0" "" "" "g.36984727dup" "" "pathogenic" "" "0000403986" "0" "90" "5" "36985776" "36985776" "subst" "0" "01318" "NIPBL_000025" "g.36985776C>T" "" "{PMID:Schoumans 2007:17106445}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985674C>T" "" "pathogenic" "" "0000403987" "0" "90" "5" "36985802" "36985802" "del" "0" "01318" "NIPBL_000037" "g.36985802del" "" "{PMID:Krantz 2004:15146186}" "" "2520delT" "" "De novo" "" "" "0" "" "" "g.36985700del" "" "pathogenic" "" "0000403988" "0" "90" "5" "36986306" "36986310" "del" "0" "01318" "NIPBL_000038" "g.36986306_36986310del" "" "{PMID:Krantz 2004:15146186}" "" "3023-3027delTGTCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36986204_36986208del" "" "pathogenic" "" "0000403989" "0" "90" "5" "37001132" "37001134" "del" "0" "01318" "NIPBL_000041" "g.37001132_37001134del" "" "{PMID:Tonkin 2004:15146185}" "" "3616_3618delATA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37001030_37001032del" "" "pathogenic" "" "0000403990" "0" "90" "5" "37006534" "37006534" "subst" "0" "01318" "NIPBL_000043" "g.37006534T>C" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "De novo" "" "" "0" "" "" "g.37006432T>C" "" "pathogenic" "" "0000403991" "0" "90" "5" "37006646" "37006646" "subst" "0" "01318" "NIPBL_000042" "g.37006646T>G" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "De novo" "" "" "0" "" "" "g.37006544T>G" "" "pathogenic" "" "0000403992" "0" "90" "5" "37008192" "37008192" "subst" "0" "01318" "NIPBL_000026" "g.37008192T>A" "" "{PMID:Schoumans 2007:17106445}" "" "" "" "De novo" "" "" "0" "" "" "g.37008090T>A" "" "pathogenic" "" "0000403993" "0" "90" "5" "37014791" "37014791" "subst" "0" "01318" "NIPBL_000027" "g.37014791C>T" "" "{PMID:Schoumans 2007:17106445}" "" "" "" "De novo" "" "" "0" "" "" "g.37014689C>T" "" "pathogenic" "" "0000403994" "0" "90" "5" "37014817" "37014817" "subst" "0" "01318" "NIPBL_000028" "g.37014817T>A" "" "{PMID:Schoumans 2007:17106445}" "" "" "" "De novo" "" "" "0" "" "" "g.37014715T>A" "" "pathogenic" "" "0000403995" "0" "90" "5" "37024685" "37024685" "subst" "0" "01318" "NIPBL_000044" "g.37024685A>G" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "De novo" "" "" "0" "" "" "g.37024583A>G" "" "pathogenic" "" "0000403996" "0" "90" "5" "37044738" "37044743" "del" "0" "01318" "NIPBL_000029" "g.37044738_37044743del" "" "{PMID:Schoumans 2007:17106445}" "" "6250_6255delGTAGTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37044636_37044641del" "" "pathogenic" "" "0000403997" "0" "90" "5" "37045637" "37045637" "subst" "0" "01318" "NIPBL_000030" "g.37045637A>C" "" "{PMID:Schoumans 2007:17106445}" "" "" "not in 150 controls" "De novo" "" "" "0" "" "" "g.37045535A>C" "" "pathogenic" "" "0000403998" "0" "90" "5" "37048782" "37048782" "subst" "0" "01318" "NIPBL_000032" "g.37048782G>T" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "6735+5G-T" "" "De novo" "" "" "0" "" "" "g.37048680G>T" "" "pathogenic" "" "0000403999" "0" "90" "5" "37048782" "37048782" "subst" "0" "01318" "NIPBL_000032" "g.37048782G>T" "" "{PMID:Krantz 2004:15146186}; {PMID:Gillis 2004:15318302}" "" "6735+5G-T" "" "De novo" "" "" "0" "" "" "g.37048680G>T" "" "pathogenic" "" "0000404000" "0" "90" "5" "37057313" "37057313" "subst" "0" "01318" "NIPBL_000046" "g.37057313A>G" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "De novo" "" "" "0" "" "" "g.37057211A>G" "" "pathogenic" "" "0000404001" "0" "90" "5" "37057330" "37057330" "dup" "0" "01318" "NIPBL_000045" "g.37057330dup" "" "{PMID:Tonkin 2004:15146185}" "" "7306_7307insG" "" "De novo" "" "" "0" "" "" "g.37057228dup" "" "pathogenic" "" "0000404002" "0" "90" "5" "37057330" "37057330" "subst" "0" "01318" "NIPBL_000031" "g.37057330G>A" "" "{PMID:Schoumans 2007:17106445}" "" "" "" "De novo" "" "" "0" "" "" "g.37057228G>A" "" "pathogenic" "" "0000404003" "0" "90" "5" "37060944" "37060944" "subst" "0" "01318" "NIPBL_000047" "g.37060944A>G" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37060842A>G" "" "pathogenic" "" "0000404004" "0" "90" "5" "37063934" "37063934" "subst" "0" "01318" "NIPBL_000013" "g.37063934G>T" "" "{PMID:Tonkin 2004:15146185}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37063832G>T" "" "pathogenic" "" "0000404005" "11" "90" "5" "37057322" "37057322" "subst" "0" "01318" "NIPBL_000023" "g.37057322A>G" "" "{PMID:Niu 2006:16958143}" "" "" "paternal gonadal mosaicism" "Germline/De novo (untested)" "" "" "0" "" "" "g.37057220A>G" "" "pathogenic" "" "0000404006" "0" "90" "5" "37057322" "37057322" "subst" "0" "01318" "NIPBL_000023" "g.37057322A>G" "" "{PMID:Niu 2006:16958143}" "" "" "paternal gonadal mosaicism" "Germline/De novo (untested)" "" "" "0" "" "" "g.37057220A>G" "" "pathogenic" "" "0000404007" "0" "90" "5" "36955569" "36955569" "subst" "0" "01318" "NIPBL_000008" "g.36955569A>G" "" "{PMID:Gillis 2004:15318302}" "" "" "New acceptor splice site (bioinformatic prediction)" "De novo" "" "" "0" "" "" "g.36955467A>G" "" "pathogenic" "" "0000404008" "0" "90" "5" "36955708" "36955717" "delins" "0" "01318" "NIPBL_000048" "g.36955708_36955717delinsATCAACAGGTGAC" "" "{PMID:Gillis 2004:15318302}" "" "199del10; 199ins13" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36955606_36955615delinsATCAACAGGTGAC" "" "pathogenic" "" "0000404009" "0" "90" "5" "36970976" "36970976" "subst" "0" "01318" "NIPBL_000049" "g.36970976A>G" "" "{PMID:Gillis 2004:15318302}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36970874A>G" "" "pathogenic" "" "0000404010" "0" "90" "5" "36971109" "36971110" "del" "0" "01318" "NIPBL_000050" "g.36971109_36971110del" "" "{PMID:Gillis 2004:15318302}" "" "742delCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36971007_36971008del" "" "pathogenic" "" "0000404011" "0" "90" "5" "36975970" "36975970" "del" "0" "01318" "NIPBL_000051" "g.36975970del" "" "{PMID:Gillis 2004:15318302}" "" "961delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36975868del" "" "pathogenic" "" "0000404012" "0" "90" "5" "36976444" "36976444" "subst" "0" "01318" "NIPBL_000052" "g.36976444C>T" "" "{PMID:Gillis 2004:15318302}" "" "R479X" "" "De novo" "" "" "0" "" "" "g.36976342C>T" "" "pathogenic" "" "0000404013" "0" "90" "5" "36984829" "36984829" "dup" "0" "01318" "NIPBL_000036" "g.36984829dup" "" "{PMID:Gillis 2004:15318302}" "" "1546insG" "" "De novo" "" "" "0" "" "" "g.36984727dup" "" "pathogenic" "" "0000404014" "0" "90" "5" "36984951" "36984952" "ins" "0" "01318" "NIPBL_000053" "g.36984951_36984952insC" "" "{PMID:Gillis 2004:15318302}" "" "1669insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36984849_36984850insC" "" "pathogenic" "" "0000404015" "0" "90" "5" "36985184" "36985184" "dup" "0" "01318" "NIPBL_000054" "g.36985184dup" "" "{PMID:Gillis 2004:15318302}" "" "1902insA" "" "De novo" "" "" "0" "" "" "g.36985082dup" "" "pathogenic" "" "0000404016" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Gillis 2004:15318302}" "" "2479delAG" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404017" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Gillis 2004:15318302}" "" "2479delAG" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404018" "0" "90" "5" "36985802" "36985802" "del" "0" "01318" "NIPBL_000037" "g.36985802del" "" "{PMID:Gillis 2004:15318302}" "" "2520delT" "" "De novo" "" "" "0" "" "" "g.36985700del" "" "pathogenic" "" "0000404019" "0" "90" "5" "36986251" "36986251" "del" "0" "01318" "NIPBL_000057" "g.36986251del" "" "{PMID:Gillis 2004:15318302}" "" "2969delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36986149del" "" "pathogenic" "" "0000404020" "0" "90" "5" "36986306" "36986310" "del" "0" "01318" "NIPBL_000038" "g.36986306_36986310del" "" "{PMID:Gillis 2004:15318302}" "" "3023delTGTCT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36986204_36986208del" "" "pathogenic" "" "0000404021" "0" "90" "5" "36986339" "36986342" "del" "0" "01318" "NIPBL_000058" "g.36986339_36986342del" "" "{PMID:Gillis 2004:15318302}" "" "3057delTAGA" "" "De novo" "" "" "0" "" "" "g.36986237_36986240del" "" "pathogenic" "" "0000404022" "0" "90" "5" "36986342" "36986345" "del" "0" "01318" "NIPBL_000059" "g.36986342_36986345del" "" "{PMID:Gillis 2004:15318302}" "" "3060delAGAG" "" "De novo" "" "" "0" "" "" "g.36986240_36986243del" "" "pathogenic" "" "0000404023" "0" "90" "5" "36985671" "36985671" "subst" "0" "01318" "NIPBL_000060" "g.36985671C>T" "" "{PMID:Gillis 2004:15318302}" "" "R797X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985569C>T" "" "pathogenic" "" "0000404024" "0" "90" "5" "36985776" "36985776" "subst" "0" "01318" "NIPBL_000061" "g.36985776C>T" "" "{PMID:Gillis 2004:15318302}" "" "R832X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985674C>T" "" "pathogenic" "" "0000404025" "0" "90" "5" "36986211" "36986211" "subst" "0" "01318" "NIPBL_000062" "g.36986211G>T" "" "{PMID:Gillis 2004:15318302}" "" "E977X" "" "De novo" "" "" "0" "" "" "g.36986109G>T" "" "pathogenic" "" "0000404026" "0" "90" "5" "0" "0" "" "0" "01318" "NIPBL_000063" "g.?" "" "{PMID:Gillis 2004:15318302}" "" "S1024X" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000404027" "0" "90" "5" "37002836" "37002836" "subst" "0" "01318" "NIPBL_000064" "g.37002836C>G" "" "{PMID:Gillis 2004:15318302}" "" "3736C>G" "not in 150 controls; mutation not detected in parents; cousin affected; conserved aminoacid in Rat and Mouse" "Germline" "" "" "0" "" "" "g.37002734C>G" "" "pathogenic" "" "0000404028" "0" "90" "5" "37006572" "37006572" "dup" "0" "01318" "NIPBL_000065" "g.37006572dup" "" "{PMID:Gillis 2004:15318302}" "" "3969insG" "" "De novo" "" "" "0" "" "" "g.37006470dup" "" "pathogenic" "" "0000404029" "0" "90" "5" "37006538" "37006538" "subst" "0" "01318" "NIPBL_000066" "g.37006538T>C" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat and Mouse" "Germline/De novo (untested)" "" "" "0" "" "" "g.37006436T>C" "" "pathogenic" "" "0000404030" "0" "90" "5" "0" "0" "" "0" "01318" "NIPBL_000067" "g.?" "" "{PMID:Gillis 2004:15318302}" "" "S1398X" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000404031" "0" "90" "5" "37008780" "37008780" "subst" "0" "01318" "NIPBL_000068" "g.37008780C>A" "" "{PMID:Gillis 2004:15318302}" "" "S1459X" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000404032" "0" "90" "5" "37010323" "37010327" "del" "0" "01318" "NIPBL_000069" "g.37010323_37010327del" "" "{PMID:Gillis 2004:15318302}" "" "4556delAAAAA" "" "De novo" "" "" "0" "" "" "g.37010221_37010225del" "" "pathogenic" "" "0000404033" "0" "90" "5" "37014830" "37014830" "subst" "0" "01318" "NIPBL_000070" "g.37014830C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1536X" "" "De novo" "" "" "0" "" "" "g.37014728C>T" "" "pathogenic" "" "0000404034" "0" "90" "5" "37014830" "37014830" "subst" "0" "01318" "NIPBL_000070" "g.37014830C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1536X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37014728C>T" "" "pathogenic" "" "0000404035" "0" "90" "5" "37014830" "37014830" "subst" "0" "01318" "NIPBL_000070" "g.37014830C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1536X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37014728C>T" "" "pathogenic" "" "0000404036" "0" "90" "5" "37014791" "37014791" "del" "0" "01318" "NIPBL_000071" "g.37014791del" "" "{PMID:Gillis 2004:15318302}" "" "4567delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37014689del" "" "pathogenic" "" "0000404037" "0" "90" "5" "37020717" "37020717" "subst" "0" "01318" "NIPBL_000072" "g.37020717C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1723X" "" "De novo" "" "" "0" "" "" "g.37020615C>T" "" "pathogenic" "" "0000404038" "0" "90" "5" "37020717" "37020717" "subst" "0" "01318" "NIPBL_000072" "g.37020717C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1723X" "" "De novo" "" "" "0" "" "" "g.37020615C>T" "" "pathogenic" "" "0000404039" "0" "90" "5" "37020923" "37020923" "subst" "0" "01318" "NIPBL_000073" "g.37020923C>T" "" "{PMID:Gillis 2004:15318302}" "" "R1758X" "" "De novo" "" "" "0" "" "" "g.37020821C>T" "" "pathogenic" "" "0000404040" "0" "90" "5" "37022190" "37022190" "subst" "0" "01318" "NIPBL_000074" "g.37022190G>T" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "Germline/De novo (untested)" "" "" "0" "" "" "g.37022088G>T" "" "pathogenic" "" "0000404041" "0" "90" "5" "37022232" "37022232" "subst" "0" "01318" "NIPBL_000075" "g.37022232A>T" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "Germline/De novo (untested)" "" "" "0" "" "" "g.37022130A>T" "" "pathogenic" "" "0000404042" "0" "90" "5" "37022485" "37022485" "subst" "0" "01318" "NIPBL_000076" "g.37022485G>C" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "De novo" "" "" "0" "" "" "g.37022383G>C" "" "pathogenic" "" "0000404043" "0" "90" "5" "37022493" "37022493" "subst" "0" "01318" "NIPBL_000077" "g.37022493G>T" "" "{PMID:Gillis 2004:15318302}" "" "" "" "De novo" "" "" "0" "" "" "g.37022391G>T" "" "pathogenic" "" "0000404044" "0" "90" "5" "37044446" "37044446" "subst" "0.00408569" "01318" "NIPBL_000078" "g.37044446T>C" "" "{PMID:Gillis 2004:15318302}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37044344T>C" "" "pathogenic" "" "0000404045" "0" "90" "5" "37044446" "37044446" "subst" "0.00408569" "01318" "NIPBL_000078" "g.37044446T>C" "" "{PMID:Gillis 2004:15318302}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37044344T>C" "" "pathogenic" "" "0000404046" "0" "90" "5" "37049341" "37049341" "subst" "0" "01318" "NIPBL_000079" "g.37049341C>T" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "Germline/De novo (untested)" "" "" "0" "" "" "g.37049239C>T" "" "pathogenic" "" "0000404047" "0" "90" "5" "37049342" "37049342" "subst" "0" "01318" "NIPBL_000080" "g.37049342G>A" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "De novo" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404048" "0" "90" "5" "37049342" "37049342" "subst" "0" "01318" "NIPBL_000080" "g.37049342G>A" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "De novo" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404049" "0" "90" "5" "37049383" "37049383" "subst" "0" "01318" "NIPBL_000081" "g.37049383G>C" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "De novo" "" "" "0" "" "" "g.37049281G>C" "" "pathogenic" "" "0000404050" "0" "90" "5" "37052556" "37052560" "del" "0" "01318" "NIPBL_000082" "g.37052556_37052560del" "" "{PMID:Gillis 2004:15318302}" "" "7151_7155delAAGAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052454_37052458del" "" "pathogenic" "" "0000404051" "0" "90" "5" "37052556" "37052560" "del" "0" "01318" "NIPBL_000082" "g.37052556_37052560del" "" "{PMID:Gillis 2004:15318302}" "" "7151_7155delAAGAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052454_37052458del" "" "pathogenic" "" "0000404052" "0" "90" "5" "37052615" "37052615" "del" "0" "01318" "NIPBL_000084" "g.37052615del" "" "{PMID:Gillis 2004:15318302}" "" "7210delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052513del" "" "pathogenic" "" "0000404053" "0" "90" "5" "37052547" "37052547" "subst" "0" "01318" "NIPBL_000085" "g.37052547G>C" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat and Mouse" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052445G>C" "" "pathogenic" "" "0000404054" "0" "90" "5" "37052573" "37052573" "subst" "0" "01318" "NIPBL_000086" "g.37052573G>A" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "De novo" "" "" "0" "" "" "g.37052471G>A" "" "pathogenic" "" "0000404055" "0" "90" "5" "37057342" "37057342" "subst" "0" "01318" "NIPBL_000087" "g.37057342T>C" "" "{PMID:Gillis 2004:15318302}" "" "" "not in 150 controls" "De novo" "" "" "0" "" "" "g.37057240T>C" "" "pathogenic" "" "0000404056" "0" "90" "5" "37057438" "37057438" "subst" "0" "01318" "NIPBL_000088" "g.37057438A>G" "" "{PMID:Gillis 2004:15318302}" "" "7321+4A-G" "mother carrier; sibling affected\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000404057" "0" "90" "5" "37057438" "37057438" "subst" "0" "01318" "NIPBL_000088" "g.37057438A>G" "" "{PMID:Gillis 2004:15318302}" "" "7321+4A-G" "mother carrier; sibling affected\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000404058" "0" "90" "5" "37057438" "37057438" "subst" "0" "01318" "NIPBL_000088" "g.37057438A>G" "" "{PMID:Gillis 2004:15318302}" "" "7321+4A-G" "mother of 4 affected siblings\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000404059" "0" "90" "5" "37059013" "37059013" "del" "0" "01318" "NIPBL_000089" "g.37059013del" "" "{PMID:Gillis 2004:15318302}" "" "7431delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37058911del" "" "pathogenic" "" "0000404060" "0" "90" "5" "37061040" "37061040" "del" "0" "01318" "NIPBL_000090" "g.37061040del" "" "{PMID:Gillis 2004:15318302}" "" "7780delC" "" "De novo" "" "" "0" "" "" "g.37060938del" "" "pathogenic" "" "0000404061" "0" "90" "5" "37061040" "37061040" "del" "0" "01318" "NIPBL_000090" "g.37061040del" "" "{PMID:Gillis 2004:15318302}" "" "7780delC" "" "De novo" "" "" "0" "" "" "g.37060938del" "" "pathogenic" "" "0000404062" "0" "90" "5" "37061085" "37061085" "dup" "0" "01318" "NIPBL_000091" "g.37061085dup" "" "{PMID:Gillis 2004:15318302}" "" "7825insG" "" "De novo" "" "" "0" "" "" "g.37060983dup" "" "pathogenic" "" "0000404063" "0" "90" "5" "37063891" "37063891" "subst" "0" "01318" "NIPBL_000092" "g.37063891G>C" "" "{PMID:Gillis 2004:15318302}" "" "" "" "De novo" "" "" "0" "" "" "g.37063789G>C" "" "pathogenic" "" "0000404064" "0" "90" "5" "36877044" "36877045" "delins" "0" "01318" "NIPBL_000093" "g.36877044_36877045delinsA" "" "{PMID:Borck 2004:15591270}; {PMID:Borck 2006:16799922}" "" "-321_-320delCCinsA" "mRNA expression reduced (14%); father affected; de novo, in father" "Germline" "" "" "0" "" "" "g.36876942_36876943delinsA" "" "pathogenic" "" "0000404065" "0" "90" "5" "36877044" "36877045" "delins" "0" "01318" "NIPBL_000093" "g.36877044_36877045delinsA" "" "{PMID:Borck 2006:16799922}" "" "-321_-320delCCinsA" "mRNA expression reduced (16%); daughter affected" "De novo" "" "" "0" "" "" "g.36876942_36876943delinsA" "" "pathogenic" "" "0000404066" "0" "90" "5" "36953863" "36953863" "subst" "0" "01318" "NIPBL_000094" "g.36953863G>A" "" "{PMID:Borck 2004:15591270}" "" "" "" "De novo" "" "" "0" "" "" "g.36953761G>A" "" "pathogenic" "" "0000404067" "0" "90" "5" "36955604" "36955604" "del" "0" "01318" "NIPBL_000095" "g.36955604del" "" "{PMID:Borck 2004:15591270}" "" "95delT" "" "De novo" "" "" "0" "" "" "g.36955502del" "" "pathogenic" "" "0000404068" "0" "90" "5" "37048667" "37048669" "del" "0" "01318" "NIPBL_000004" "g.37048667_37048669del" "" "{PMID:Borck 2004:15591270}" "" "6653_6655delATA" "" "De novo" "" "" "0" "" "" "g.37048565_37048567del" "" "pathogenic" "" "0000404069" "0" "90" "5" "37048721" "37048721" "subst" "0" "01318" "NIPBL_000096" "g.37048721A>T" "" "{PMID:Borck 2004:15591270}" "" "" "not in 110 control alleles; highly conserved aminoacid (rat, mouse, Tetraodon and Drosophila)" "De novo" "" "" "0" "" "" "g.37048619A>T" "" "pathogenic" "" "0000404070" "0" "90" "5" "37044762" "37044762" "subst" "0" "01318" "NIPBL_000097" "g.37044762C>G" "" "{PMID:Borck 2004:15591270}" "" "" "not in 280 controls; highly conserved aminoacid (rat, mouse, Tetraodon and Drosophila)" "De novo" "" "" "0" "" "" "g.37044660C>G" "" "pathogenic" "" "0000404071" "0" "90" "5" "36985203" "36985203" "subst" "0" "01318" "NIPBL_000098" "g.36985203G>T" "" "{PMID:Miyake 2005:15723327}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985101G>T" "" "pathogenic" "" "0000404072" "0" "90" "5" "36985167" "36985167" "subst" "0" "01318" "NIPBL_000099" "g.36985167C>T" "" "{PMID:Miyake 2005:15723327}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985065C>T" "" "pathogenic" "" "0000404073" "0" "90" "5" "37022401" "37022401" "subst" "0" "01318" "NIPBL_000100" "g.37022401G>A" "" "{PMID:Miyake 2005:15723327}" "" "" "not in 97 controls; highly conserved aminoacid (rat, mouse and Drosophila);" "De novo" "" "" "0" "" "" "g.37022299G>A" "" "pathogenic" "" "0000404074" "0" "90" "5" "37000516" "37000516" "subst" "0" "01318" "NIPBL_000101" "g.37000516G>T" "" "{PMID:Miyake 2005:15723327}" "" "" "" "Germline" "" "" "0" "" "" "g.37000414G>T" "" "pathogenic" "" "0000404075" "0" "10" "5" "36976160" "36976160" "subst" "0.0000894957" "01318" "NIPBL_000102" "g.36976160A>G" "0.03 (JP)" "{PMID:Miyake 2005:15723327}; {dbSNP2291703}" "" "" "" "Germline" "" "" "0" "" "" "g.36976058A>G" "" "benign" "" "0000404076" "0" "10" "5" "36985303" "36985303" "subst" "0.137279" "01318" "NIPBL_000103" "g.36985303A>G" "0.13 (JP)" "{PMID:Miyake 2005:15723327}; {dbSNP3822471}" "" "" "" "Germline" "" "" "0" "" "" "g.36985201A>G" "" "benign" "" "0000404077" "0" "10" "5" "37036492" "37036492" "subst" "0" "01318" "NIPBL_000104" "g.37036492C>T" "0.65 (JP)" "{PMID:Miyake 2005:15723327}" "" "5874T>C" "" "Germline" "" "rs61748200" "0" "" "" "g.37036390C>T" "" "benign" "" "0000404078" "0" "90" "5" "37006673" "37006673" "dup" "0" "01318" "NIPBL_000105" "g.37006673dup" "" "{PMID:Kaur 2005:16100726}" "" "g.4069_4070insG" "" "Germline" "" "" "0" "" "" "g.37006571dup" "" "pathogenic" "" "0000404079" "0" "90" "5" "0" "0" "" "0" "01318" "NIPBL_000083" "g.?" "" "{PMID:Kaur 2005:16100726}" "" "g.5721_5725delTGAAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000404080" "0" "90" "5" "37050786" "37055912" "del" "0" "01318" "NIPBL_000106" "g.37050786_37055912del" "" "{PMID: Bhuiyan 2007:16236812}" "" "6955-1095_7263-3344del5227" "Exon 41 and 42 deleted (5.2 Kb deletion)\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000404081" "0" "90" "5" "36953867" "36953867" "subst" "0" "01318" "NIPBL_000107" "g.36953867G>A" "" "{PMID:Borck 2007:17221863}" "" "" "" "Germline" "" "" "0" "" "" "g.36953765G>A" "" "pathogenic" "" "0000404082" "0" "90" "5" "36955569" "36955569" "subst" "0" "01318" "NIPBL_000008" "g.36955569A>G" "" "{PMID:Borck 2007:17221863}" "" "" "New acceptor splice site (bioinformatic prediction)" "Germline" "" "" "0" "" "" "g.36955467A>G" "" "pathogenic" "" "0000404083" "0" "90" "5" "37014869" "37014869" "subst" "0" "01318" "NIPBL_000108" "g.37014869T>G" "" "{PMID:Borck 2007:17221863}" "" "" "" "Germline" "" "" "0" "" "" "g.37014767T>G" "" "pathogenic" "" "0000404084" "0" "90" "5" "37022373" "37022373" "subst" "0" "01318" "NIPBL_000109" "g.37022373C>T" "" "{PMID:Borck 2007:17221863}" "" "5455G>T" "" "Germline" "" "" "0" "" "" "g.37022271C>T" "" "pathogenic" "" "0000404085" "0" "90" "5" "37024783" "37024783" "subst" "0" "01318" "NIPBL_000110" "g.37024783A>G" "" "{PMID:Borck 2007:17221863}" "" "" "" "Germline" "" "" "0" "" "" "g.37024681A>G" "" "pathogenic" "" "0000404086" "0" "90" "5" "37044506" "37044506" "subst" "0" "01318" "NIPBL_000111" "g.37044506C>T" "" "{PMID:Borck 2007:17221863}" "" "" "" "Germline" "" "" "0" "" "" "g.37044404C>T" "" "pathogenic" "" "0000404087" "0" "90" "5" "37052594" "37052594" "subst" "0" "01318" "NIPBL_000012" "g.37052594T>C" "" "{PMID:Borck 2007:17221863}" "" "" "" "Germline" "" "" "0" "" "" "g.37052492T>C" "" "pathogenic" "" "0000404088" "0" "90" "5" "36961642" "36961643" "ins" "0" "01318" "NIPBL_000112" "g.36961642_36961643insTTAT" "" "{PMID:Yan 2006:16770807}" "" "416insTTAT; p.S139FfsX11" "" "De novo" "" "" "0" "" "" "g.36961540_36961541insTTAT" "" "pathogenic" "" "0000404089" "0" "90" "5" "36971104" "36971104" "subst" "0" "01318" "NIPBL_000113" "g.36971104A>G" "" "{PMID:Yan 2006:16770807}" "" "" "Aminoacid conserved in all species except Danio rerio" "De novo" "" "" "0" "" "" "g.36971002A>G" "" "pathogenic" "" "0000404090" "0" "90" "5" "36985604" "36985605" "del" "0" "01318" "NIPBL_000114" "g.36985604_36985605del" "" "{PMID:Yan 2006:16770807}" "" "2321_2322delAG; p.E774EfsX2" "" "De novo" "" "" "0" "" "" "g.36985502_36985503del" "" "pathogenic" "" "0000404091" "0" "90" "5" "36986202" "36986203" "del" "0" "01318" "NIPBL_000115" "g.36986202_36986203del" "" "{PMID:Yan 2006:16770807}" "" "2920_2921delAA; p.R974EfsX17" "" "De novo" "" "" "0" "" "" "g.36986100_36986101del" "" "pathogenic" "" "0000404092" "0" "90" "5" "37000941" "37000941" "dup" "0" "01318" "NIPBL_000116" "g.37000941dup" "" "{PMID:Yan 2006:16770807}" "" "3526insA; p.E1176RfsX8" "" "De novo" "" "" "0" "" "" "g.37000839dup" "" "pathogenic" "" "0000404093" "0" "90" "5" "37020717" "37020717" "subst" "0" "01318" "NIPBL_000072" "g.37020717C>T" "" "{PMID:Yan 2006:16770807}" "" "" "" "De novo" "" "" "0" "" "" "g.37020615C>T" "" "pathogenic" "" "0000404094" "0" "90" "5" "37045676" "37045676" "subst" "0" "01318" "NIPBL_000117" "g.37045676G>T" "" "{PMID:Yan 2006:16770807}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37045574G>T" "" "pathogenic" "" "0000404095" "0" "90" "5" "37048667" "37048669" "del" "0" "01318" "NIPBL_000004" "g.37048667_37048669del" "" "{PMID:Yan 2006:16770807}" "" "6653_6655delATA" "" "De novo" "" "" "0" "" "" "g.37048565_37048567del" "" "pathogenic" "" "0000404096" "0" "90" "5" "37049322" "37049322" "dup" "0" "01318" "NIPBL_000118" "g.37049322dup" "" "{PMID:Yan 2006:16770807}" "" "6874insT; p.H2292SfsX46" "" "De novo" "" "" "0" "" "" "g.37049220dup" "" "pathogenic" "" "0000404097" "0" "90" "5" "37052501" "37052501" "subst" "0" "01318" "NIPBL_000119" "g.37052501C>T" "" "{PMID:Yan 2006:16770807}" "" "" "" "De novo" "" "" "0" "" "" "g.37052399C>T" "" "pathogenic" "" "0000404098" "0" "90" "5" "37059021" "37059022" "del" "0" "01318" "NIPBL_000120" "g.37059021_37059022del" "" "{PMID:Yan 2006:16770807}" "" "7438_7439delAG; p.R2480KfsX3" "" "De novo" "" "" "0" "" "" "g.37058919_37058920del" "" "pathogenic" "" "0000404099" "0" "90" "5" "37059141" "37059141" "del" "0" "01318" "NIPBL_000121" "g.37059141del" "" "{PMID:Yan 2006:16770807}" "" "p.N2520IfsX1" "" "De novo" "" "" "0" "" "" "g.37059039del" "" "pathogenic" "" "0000404100" "0" "90" "5" "37063981" "37063981" "dup" "0" "01318" "NIPBL_000122" "g.37063981dup" "" "{PMID:Yan 2006:16770807}" "" "c.7949_7950insT; p.2650IfsX9" "" "De novo" "" "" "0" "" "" "g.37063879dup" "" "pathogenic" "" "0000404101" "0" "90" "5" "36955595" "36955595" "subst" "0" "01318" "NIPBL_000123" "g.36955595C>A" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila)" "De novo" "" "" "0" "" "" "g.36955493C>A" "" "pathogenic" "" "0000404102" "0" "90" "5" "36962381" "36962381" "subst" "0" "01318" "NIPBL_000124" "g.36962381G>C" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.36962279G>C" "" "pathogenic" "" "0000404103" "0" "90" "5" "36970972" "36970972" "subst" "0" "01318" "NIPBL_000125" "g.36970972T>C" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.36970870T>C" "" "pathogenic" "" "0000404104" "0" "90" "5" "36970972" "36970972" "subst" "0" "01318" "NIPBL_000126" "g.36970972T>C" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.36970870T>C" "" "pathogenic" "" "0000404105" "0" "90" "5" "36984795" "36984795" "dup" "0" "01318" "NIPBL_000127" "g.36984795dup" "" "{PMID:Bhuiyan 2006:16236812}" "" "1513-1514insA" "" "De novo" "" "" "0" "" "" "g.36984693dup" "" "pathogenic" "" "0000404106" "0" "90" "5" "36985066" "36985066" "del" "0" "01318" "NIPBL_000128" "g.36985066del" "" "{PMID:Bhuiyan 2006:16236812}" "" "1784delA" "" "De novo" "" "" "0" "" "" "g.36984964del" "" "pathogenic" "" "0000404107" "0" "90" "5" "36985606" "36985606" "subst" "0" "01318" "NIPBL_000130" "g.36985606A>G" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila)" "De novo" "" "" "0" "" "" "g.36985504A>G" "" "pathogenic" "" "0000404108" "0" "90" "5" "36985623" "36985623" "subst" "0" "01318" "NIPBL_000129" "g.36985623A>T" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.36985521A>T" "" "pathogenic" "" "0000404109" "0" "90" "5" "36985640" "36985661" "dup" "0" "01318" "NIPBL_000014" "g.36985640_36985661dup" "" "{PMID:Bhuiyan 2006:16236812}" "" "2358dup22" "" "De novo" "" "" "0" "" "" "g.36985538_36985559dup" "" "pathogenic" "" "0000404110" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Bhuiyan 2006:16236812}" "" "2479_2480delAG" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404111" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Bhuiyan 2006:16236812}" "" "2479_2480delAG" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404112" "0" "90" "5" "36985782" "36985782" "subst" "0" "01318" "NIPBL_000131" "g.36985782C>T" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.36985680C>T" "" "pathogenic" "" "0000404113" "0" "90" "5" "36985869" "36985869" "dup" "0" "01318" "NIPBL_000132" "g.36985869dup" "" "{PMID:Bhuiyan 2006:16236812}" "" "2587_2588insA" "" "De novo" "" "" "0" "" "" "g.36985767dup" "" "pathogenic" "" "0000404114" "0" "90" "5" "36986053" "36986053" "del" "0" "01318" "NIPBL_000133" "g.36986053del" "" "{PMID:Bhuiyan 2006:16236812}" "" "2771delA" "" "De novo" "" "" "0" "" "" "g.36985951del" "" "pathogenic" "" "0000404115" "0" "90" "5" "36986329" "36986330" "del" "0" "01318" "NIPBL_000134" "g.36986329_36986330del" "" "{PMID:Bhuiyan 2006:16236812}" "" "3047_3048delTT" "" "De novo" "" "" "0" "" "" "g.36986227_36986228del" "" "pathogenic" "" "0000404116" "0" "90" "5" "36986342" "36986345" "del" "0" "01318" "NIPBL_000135" "g.36986342_36986345del" "" "{PMID:Bhuiyan 2006:16236812}" "" "3060_3063delAGAG" "" "De novo" "" "" "0" "" "" "g.36986240_36986243del" "" "pathogenic" "" "0000404117" "0" "90" "5" "37000537" "37000537" "del" "0" "01318" "NIPBL_000136" "g.37000537del" "" "{PMID:Bhuiyan 2006:16236812}" "" "3367delA" "" "De novo" "" "" "0" "" "" "g.37000435del" "" "pathogenic" "" "0000404118" "0" "90" "5" "37022251" "37022251" "subst" "0" "01318" "NIPBL_000137" "g.37022251G>T" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.37022149G>T" "" "pathogenic" "" "0000404119" "0" "90" "5" "37026434" "37026434" "subst" "0" "01318" "NIPBL_000138" "g.37026434G>C" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.37026332G>C" "" "pathogenic" "" "0000404120" "0" "90" "5" "37044496" "37044496" "subst" "0" "01318" "NIPBL_000139" "g.37044496G>C" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila)" "De novo" "" "" "0" "" "" "g.37044394G>C" "" "pathogenic" "" "0000404121" "0" "90" "5" "37049342" "37049342" "subst" "0" "01318" "NIPBL_000080" "g.37049342G>A" "" "{PMID:Bhuiyan 2006:16236812}" "" "p.Arg2298Ser" "not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila)" "De novo" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404122" "0" "90" "5" "37059231" "37059231" "subst" "0" "01318" "NIPBL_000140" "g.37059231A>T" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "not in 150 controls; highly conserved aminoacid (rat, mouse, and Drosophila)" "De novo" "" "" "0" "" "" "g.37059129A>T" "" "pathogenic" "" "0000404123" "0" "90" "5" "37061109" "37061109" "subst" "0" "01318" "NIPBL_000141" "g.37061109C>T" "" "{PMID:Bhuiyan 2006:16236812}" "" "" "" "De novo" "" "" "0" "" "" "g.37061007C>T" "" "pathogenic" "" "0000404124" "0" "90" "5" "37064716" "37064716" "dup" "0" "01318" "NIPBL_000142" "g.37064716dup" "" "{PMID:Bhuiyan 2006:16236812}" "" "c.8137_8138insA" "" "De novo" "" "" "0" "" "" "g.37064614dup" "" "pathogenic" "" "0000404125" "0" "90" "5" "37063909" "37063909" "dup" "0" "01318" "NIPBL_000143" "g.37063909dup" "" "{PMID:Selicorni 2007:17661813}" "" "7878dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37063807dup" "" "pathogenic" "" "0000404126" "0" "90" "5" "37057438" "37057438" "subst" "0" "01318" "NIPBL_000144" "g.37057438A>G" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37057336A>G" "" "pathogenic" "" "0000404127" "0" "90" "5" "36986404" "36986404" "subst" "0" "01318" "NIPBL_000145" "g.36986404G>A" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36986302G>A" "" "pathogenic" "" "0000404128" "0" "90" "5" "36953718" "36953718" "subst" "0" "01318" "NIPBL_000148" "g.36953718A>G" "" "{PMID:Selicorni 2007:17661813}" "" "1-81A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36953616A>G" "" "pathogenic" "" "0000404129" "0" "90" "5" "36955569" "36955569" "subst" "0" "01318" "NIPBL_000008" "g.36955569A>G" "" "{PMID:Selicorni 2007:17661813}" "" "" "New acceptor splice site (bioinformatic prediction)" "Germline/De novo (untested)" "" "" "0" "" "" "g.36955467A>G" "" "pathogenic" "" "0000404130" "0" "90" "5" "36955579" "36955588" "del" "0" "01318" "NIPBL_000146" "g.36955579_36955588del" "" "{PMID:Selicorni 2007:17661813}" "" "70_79delAACCAGCTG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36955477_36955486del" "" "pathogenic" "" "0000404131" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Selicorni 2007:17661813}" "" "2479_2480delAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404132" "0" "90" "5" "37044446" "37044446" "subst" "0.00408569" "01318" "NIPBL_000078" "g.37044446T>C" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37044344T>C" "" "pathogenic" "" "0000404133" "0" "90" "5" "37049341" "37049341" "subst" "0" "01318" "NIPBL_000079" "g.37049341C>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "De novo" "" "" "0" "" "" "g.37049239C>T" "" "pathogenic" "" "0000404134" "0" "90" "5" "37063907" "37063907" "subst" "0" "01318" "NIPBL_000147" "g.37063907G>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37063805G>T" "" "pathogenic" "" "0000404135" "0" "90" "5" "37038702" "37038702" "subst" "0" "01318" "NIPBL_000149" "g.37038702A>G" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37038600A>G" "" "pathogenic" "" "0000404136" "0" "90" "5" "36962226" "36962226" "del" "0" "01318" "NIPBL_000150" "g.36962226del" "" "{PMID:Selicorni 2007:17661813}" "" "460delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36962124del" "" "pathogenic" "" "0000404137" "0" "90" "5" "37052624" "37052624" "subst" "0" "01318" "NIPBL_000151" "g.37052624C>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052522C>T" "" "pathogenic" "" "0000404138" "0" "90" "5" "37051880" "37051880" "subst" "0" "01318" "NIPBL_000152" "g.37051880G>A" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37051778G>A" "" "pathogenic" "" "0000404139" "0" "90" "5" "36985671" "36985671" "subst" "0" "01318" "NIPBL_000060" "g.36985671C>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985569C>T" "" "pathogenic" "" "0000404140" "0" "90" "5" "37022484" "37022484" "subst" "0" "01318" "NIPBL_000153" "g.37022484A>G" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "De novo" "" "" "0" "" "" "g.37022382A>G" "" "pathogenic" "" "0000404141" "0" "90" "5" "37024720" "37024720" "subst" "0" "01318" "NIPBL_000154" "g.37024720A>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37024618A>T" "" "pathogenic" "" "0000404142" "0" "90" "5" "37008161" "37008161" "subst" "0" "01318" "NIPBL_000155" "g.37008161C>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37008059C>T" "" "pathogenic" "" "0000404143" "0" "90" "5" "36985654" "36985654" "del" "0" "01318" "NIPBL_000156" "g.36985654del" "" "{PMID:Selicorni 2007:17661813}" "" "2372delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985552del" "" "pathogenic" "" "0000404144" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Selicorni 2007:17661813}" "" "2479_2480delAG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404145" "0" "90" "5" "36986197" "36986197" "del" "0" "01318" "NIPBL_000157" "g.36986197del" "" "{PMID:Selicorni 2007:17661813}" "" "2915delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36986095del" "" "pathogenic" "" "0000404146" "0" "90" "5" "36986016" "36986020" "dup" "0" "01318" "NIPBL_000158" "g.36986016_36986020dup" "" "{PMID:Selicorni 2007:17661813}" "" "2734_2738dupTCACC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985914_36985918dup" "" "pathogenic" "" "0000404147" "0" "90" "5" "36877266" "36877266" "subst" "0" "01318" "NIPBL_000159" "g.36877266C>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "creates a new ATG site?" "Germline/De novo (untested)" "" "" "0" "" "" "g.36877164C>T" "" "pathogenic" "" "0000404148" "0" "90" "5" "37049342" "37049342" "subst" "0" "01318" "NIPBL_000246" "g.37049342G>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "De novo" "" "" "0" "" "" "g.37049240G>T" "" "pathogenic" "" "0000404149" "0" "90" "5" "37016273" "37016273" "subst" "0" "01318" "NIPBL_000160" "g.37016273G>T" "" "{PMID:Selicorni 2007:17661813}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37016171G>T" "" "pathogenic" "" "0000404150" "0" "90" "5" "36985610" "36985610" "dup" "0" "01318" "NIPBL_000161" "g.36985610dup" "" "{PMID:Selicorni 2007:17661813}" "" "2328dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985508dup" "" "pathogenic" "" "0000404151" "0" "90" "5" "36962279" "36962279" "dup" "0" "01318" "NIPBL_000162" "g.36962279dup" "" "{PMID: Bhuiyan 2006b:16865217}" "" "513dupT" "" "Germline" "" "" "0" "" "" "g.36962177dup" "" "pathogenic" "" "0000404152" "0" "90" "5" "37020559" "37020559" "subst" "0" "01318" "NIPBL_000163" "g.37020559A>G" "" "{PMID: Chong 2009:19242925}" "" "IVS25-2A>G" "" "De novo" "" "" "0" "" "" "g.37020457A>G" "" "pathogenic" "" "0000404153" "0" "90" "5" "36985671" "36985671" "subst" "0" "01318" "NIPBL_000060" "g.36985671C>T" "" "{PMID: Chong 2009:19242925}" "" "p.R797X" "" "De novo" "" "" "0" "" "" "g.36985569C>T" "" "pathogenic" "" "0000404154" "0" "90" "5" "37049401" "37049401" "subst" "0" "01318" "NIPBL_000164" "g.37049401C>T" "" "{PMID: Chong 2009:19242925}" "" "p.Q2318X" "" "De novo" "" "" "0" "" "" "g.37049299C>T" "" "pathogenic" "" "0000404155" "0" "10" "5" "36955800" "36955800" "subst" "0" "01318" "NIPBL_000165" "g.36955800C>A" "" "{PMID:Gillis 2004:15318302}" "" "" "" "Germline" "" "" "0" "" "" "g.36955698C>A" "" "benign" "" "0000404156" "0" "90" "5" "37006543" "37006543" "dup" "0" "01067" "NIPBL_000166" "g.37006543dup" "" "{PMID:Vrouwe 2007:17468178}" "" "3940dupA" "" "Germline" "" "" "0" "" "" "g.37006441dup" "" "pathogenic" "" "0000404157" "0" "70" "5" "37003407" "37003409" "del" "0" "01067" "NIPBL_000167" "g.37003407_37003409del" "" "{PMID:Vrouwe 2007:17468178}" "" "3813_3815delGAA" "" "Germline" "" "" "0" "" "" "g.37003305_37003307del" "" "likely pathogenic" "" "0000404158" "0" "90" "5" "36995724" "37014867" "dup" "0" "01067" "NIPBL_000168" "g.36995724_37014867dup" "" "{PMID:Vrouwe 2007:17468178}" "" "" "Duplication of exons 11 to 22\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000404159" "0" "90" "5" "37048782" "37048782" "subst" "0" "01318" "NIPBL_000039" "g.37048782G>C" "" "{PMID:Oliveira 2010:20824775}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37048680G>C" "" "pathogenic" "" "0000404160" "0" "90" "5" "37048782" "37048782" "subst" "0" "01318" "NIPBL_000032" "g.37048782G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37048680G>T" "" "pathogenic" "" "0000404161" "0" "90" "5" "37016262" "37016263" "delins" "0" "01067" "NIPBL_000170" "g.37016262_37016263delinsTTTGTTAGGTAAGAGA" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37016160_37016161delinsTTTGTTAGGTAAGAGA" "" "pathogenic" "" "0000404162" "0" "90" "5" "36985761" "36985761" "del" "0" "01067" "NIPBL_000171" "g.36985761del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "2479delA" "" "De novo" "" "" "0" "" "" "g.36985659del" "" "pathogenic" "" "0000404163" "0" "90" "5" "37002870" "37002870" "subst" "0" "01067" "NIPBL_000172" "g.37002870A>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.37002768A>T" "" "pathogenic" "" "0000404164" "0" "70" "5" "37048711" "37048711" "subst" "0" "01067" "NIPBL_000173" "g.37048711G>A" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37048609G>A" "" "likely pathogenic" "" "0000404165" "0" "90" "5" "36962279" "36962279" "dup" "0" "01067" "NIPBL_000162" "g.36962279dup" "" "Redeker (unpublished)" "" "513dupT" "" "Germline" "" "" "0" "" "" "g.36962177dup" "" "pathogenic" "" "0000404166" "0" "70" "5" "37048711" "37048711" "subst" "0" "01067" "NIPBL_000173" "g.37048711G>A" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37048609G>A" "" "likely pathogenic" "" "0000404167" "0" "90" "5" "37061079" "37061079" "dup" "0" "01067" "NIPBL_000174" "g.37061079dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "7819dupA" "" "Germline" "" "" "0" "" "" "g.37060977dup" "" "pathogenic" "" "0000404168" "0" "90" "5" "36985398" "36985399" "dup" "0" "01067" "NIPBL_000175" "g.36985398_36985399dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "2116_2117dupAA" "" "Germline" "" "" "0" "" "" "g.36985296_36985297dup" "" "pathogenic" "" "0000404169" "0" "90" "5" "37008163" "37008163" "del" "0" "01067" "NIPBL_000176" "g.37008163del" "" "Redeker (unpublished)" "" "4293delG" "" "Germline" "" "" "0" "" "" "g.37008061del" "" "pathogenic" "" "0000404170" "0" "90" "5" "37006616" "37006616" "subst" "0" "01067" "NIPBL_000177" "g.37006616A>G" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.37006514A>G" "" "pathogenic" "" "0000404171" "0" "90" "5" "37010189" "37010189" "subst" "0" "01067" "NIPBL_000178" "g.37010189G>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.37010087G>T" "" "pathogenic" "" "0000404172" "0" "90" "5" "36985289" "36985289" "del" "0" "01067" "NIPBL_000179" "g.36985289del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "2007delT" "" "De novo" "" "" "0" "" "" "g.36985187del" "" "pathogenic" "" "0000404173" "0" "90" "5" "37049342" "37049342" "subst" "0" "01067" "NIPBL_000080" "g.37049342G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404174" "0" "90" "5" "36986399" "36986402" "del" "0" "01067" "NIPBL_000180" "g.36986399_36986402del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "3117_3120delTAAA" "" "Germline" "" "" "0" "" "" "g.36986297_36986300del" "" "pathogenic" "" "0000404175" "0" "90" "5" "36955642" "36955642" "subst" "0" "01067" "NIPBL_000181" "g.36955642C>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.36955540C>T" "" "pathogenic" "" "0000404176" "0" "70" "5" "37057323" "37057325" "dup" "0" "01067" "NIPBL_000182" "g.37057323_37057325dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37057221_37057223dup" "" "likely pathogenic" "" "0000404177" "0" "90" "5" "36972101" "36972101" "subst" "0" "01067" "NIPBL_000183" "g.36972101C>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.36971999C>T" "" "pathogenic" "" "0000404178" "0" "90" "5" "37057364" "37057364" "subst" "0" "01067" "NIPBL_000184" "g.37057364T>A" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37057262T>A" "" "pathogenic" "" "0000404179" "0" "70" "5" "37064905" "37064905" "dup" "0" "01067" "NIPBL_000185" "g.37064905dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "8326dupA" "3\' UTR?" "Germline" "" "" "0" "" "" "g.37064803dup" "" "likely pathogenic" "" "0000404180" "0" "90" "5" "37049301" "37049301" "del" "0" "01067" "NIPBL_000186" "g.37049301del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "6852delA" "" "Germline" "" "" "0" "" "" "g.37049199del" "" "pathogenic" "" "0000404181" "0" "70" "5" "37049341" "37049341" "subst" "0" "01067" "NIPBL_000079" "g.37049341C>T" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37049239C>T" "" "likely pathogenic" "" "0000404182" "0" "70" "5" "37006454" "37006454" "del" "0" "01067" "NIPBL_000187" "g.37006454del" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37006352del" "" "likely pathogenic" "" "0000404183" "0" "70" "5" "37020778" "37020778" "subst" "0" "01067" "NIPBL_000188" "g.37020778A>C" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37020676A>C" "" "likely pathogenic" "" "0000404184" "0" "10" "5" "36985247" "36985247" "subst" "0.000790668" "01067" "NIPBL_000189" "g.36985247G>T" "" "Redeker (unpublished)" "" "" "not pathogenic, inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.36985145G>T" "" "benign" "" "0000404185" "0" "90" "5" "37049342" "37049342" "subst" "0" "01067" "NIPBL_000080" "g.37049342G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404186" "0" "70" "5" "37064894" "37064897" "del" "0" "01067" "NIPBL_000190" "g.37064894_37064897del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "8315_8318delTTTA" "" "Germline" "" "" "0" "" "" "g.37064792_37064795del" "" "likely pathogenic" "" "0000404187" "0" "90" "5" "36985610" "36985610" "dup" "0" "01067" "NIPBL_000161" "g.36985610dup" "" "Redeker (unpublished)" "" "2328dupA" "" "Germline" "" "" "0" "" "" "g.36985508dup" "" "pathogenic" "" "0000404188" "0" "10" "5" "37000966" "37000966" "subst" "0" "01067" "NIPBL_000192" "g.37000966T>C" "" "Redeker (unpublished)" "" "" "not pathogenic, inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.37000864T>C" "" "benign" "" "0000404189" "0" "70" "5" "37064880" "37064880" "del" "0" "01067" "NIPBL_000193" "g.37064880del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "8301delA" "" "Germline" "" "" "0" "" "" "g.37064778del" "" "likely pathogenic" "" "0000404190" "0" "90" "5" "36976007" "36976007" "del" "0" "01067" "NIPBL_000194" "g.36976007del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "998delA" "" "Germline" "" "" "0" "" "" "g.36975905del" "" "pathogenic" "" "0000404191" "0" "90" "5" "37046306" "37046306" "subst" "0" "01067" "NIPBL_000216" "g.37046306G>A" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.37046204G>A" "" "pathogenic" "" "0000404192" "0" "90" "5" "36976284" "36976287" "del" "0" "01067" "NIPBL_000196" "g.36976284_36976287del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "1275_1278delAACA" "" "Germline" "" "" "0" "" "" "g.36976182_36976185del" "" "pathogenic" "" "0000404193" "0" "70" "5" "37024805" "37024805" "subst" "0" "01067" "NIPBL_000197" "g.37024805A>G" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37024703A>G" "" "likely pathogenic" "" "0000404194" "0" "90" "5" "37020601" "37020602" "del" "0" "01067" "NIPBL_000198" "g.37020601_37020602del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "5051_5052delCA" "" "Germline" "" "" "0" "" "" "g.37020499_37020500del" "" "pathogenic" "" "0000404195" "0" "10" "5" "37044446" "37044446" "subst" "0.00408569" "01067" "NIPBL_000078" "g.37044446T>C" "" "Redeker (unpublished)" "" "" "not pathogenic, inherited from unaffected mother;" "Germline" "" "" "0" "" "" "g.37044344T>C" "" "benign" "" "0000404196" "0" "70" "5" "37022389" "37022389" "subst" "0" "01067" "NIPBL_000200" "g.37022389C>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37022287C>T" "" "likely pathogenic" "" "0000404197" "0" "70" "5" "37007539" "37007539" "subst" "0" "01067" "NIPBL_000201" "g.37007539T>G" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37007437T>G" "" "likely pathogenic" "" "0000404198" "0" "90" "5" "36985127" "36985128" "del" "0" "01318" "NIPBL_000202" "g.36985127_36985128del" "" "{PMID:Wilmink 2009:19816032}" "" "1844_1845delAA" "" "De novo" "" "" "0" "" "" "g.36985025_36985026del" "" "pathogenic" "" "0000404199" "0" "70" "5" "36958336" "36958336" "subst" "0" "01067" "NIPBL_000203" "g.36958336G>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.36958234G>T" "" "likely pathogenic" "" "0000404200" "0" "70" "5" "37002850" "37002852" "del" "0" "01067" "NIPBL_000204" "g.37002850_37002852del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "3751_3753delATG" "" "Germline" "" "" "0" "" "" "g.37002748_37002750del" "" "likely pathogenic" "" "0000404201" "0" "90" "5" "36955569" "36955569" "subst" "0" "01067" "NIPBL_000008" "g.36955569A>G" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.36955467A>G" "" "pathogenic" "" "0000404202" "0" "70" "5" "37057330" "37057330" "subst" "0" "01067" "NIPBL_000031" "g.37057330G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37057228G>A" "" "likely pathogenic" "" "0000404203" "0" "90" "5" "36985573" "36985574" "ins" "0" "01067" "NIPBL_000205" "g.36985573_36985574insC" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.36985471_36985472insC" "" "pathogenic" "" "0000404204" "0" "90" "5" "37061048" "37061052" "del" "0" "01067" "NIPBL_000206" "g.37061048_37061052del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "7788_7792delCCTGC" "" "Germline" "" "" "0" "" "" "g.37060946_37060950del" "" "pathogenic" "" "0000404205" "0" "90" "5" "36986399" "36986402" "del" "0" "01067" "NIPBL_000207" "g.36986399_36986402del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "3117_3120delTAAA" "" "Germline" "" "" "0" "" "" "g.36986297_36986300del" "" "pathogenic" "" "0000404206" "0" "90" "5" "37026430" "37026430" "subst" "0" "01067" "NIPBL_000208" "g.37026430G>A" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.37026328G>A" "" "pathogenic" "" "0000404207" "0" "90" "5" "36975898" "36975898" "dup" "0" "01067" "NIPBL_000209" "g.36975898dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "889dupC" "" "De novo" "" "" "0" "" "" "g.36975796dup" "" "pathogenic" "" "0000404208" "0" "90" "5" "36985056" "36985069" "del" "0" "01067" "NIPBL_000210" "g.36985056_36985069del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "Germline" "" "" "0" "" "" "g.36984954_36984967del" "" "pathogenic" "" "0000404209" "0" "90" "5" "36995907" "36995907" "subst" "0" "01067" "NIPBL_000211" "g.36995907G>T" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "" "" "De novo" "" "" "0" "" "" "g.36995805G>T" "" "pathogenic" "" "0000404210" "0" "90" "5" "36985893" "36985893" "del" "0" "01067" "NIPBL_000212" "g.36985893del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "2611delA" "" "Germline" "" "" "0" "" "" "g.36985791del" "" "pathogenic" "" "0000404211" "0" "90" "5" "37022236" "37022236" "dup" "0" "01067" "NIPBL_000213" "g.37022236dup" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "5412dupC" "" "De novo" "" "" "0" "" "" "g.37022134dup" "" "pathogenic" "" "0000404212" "0" "90" "5" "37049252" "37049252" "del" "0" "01067" "NIPBL_000214" "g.37049252del" "" "Redeker; {PMID:Oliveira 2010:20824775}" "" "6803delG" "" "De novo" "" "" "0" "" "" "g.37049150del" "" "pathogenic" "" "0000404213" "0" "10" "5" "37014776" "37014776" "subst" "0.00792182" "01067" "NIPBL_000215" "g.37014776T>A" "" "Redeker (unpublished)" "" "" "not pathogenic, inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.37014674T>A" "" "benign" "" "0000404214" "21" "10" "5" "37010177" "37010177" "del" "0" "01067" "NIPBL_000217" "g.37010177del" "-" "Redeker (unpublished)" "" "4422-12delT" "not pathogenic, inherited from unaffected mother" "Germline" "" "" "0" "" "" "g.37010075del" "" "benign" "" "0000404215" "0" "90" "5" "37000486" "37000486" "subst" "0" "01321" "NIPBL_000218" "g.37000486C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37000384C>T" "" "pathogenic" "" "0000404216" "0" "90" "5" "36953863" "36953863" "subst" "0" "01321" "NIPBL_000094" "g.36953863G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.36953761G>A" "" "pathogenic" "" "0000404217" "0" "10" "5" "36976512" "36976514" "del" "0" "01067" "NIPBL_000219" "g.36976512_36976514del" "" "Redeker (unpublished)" "" "1495+8_1495+10delAAT" "not pathogenic, inherited from unaffected father" "Germline" "" "" "0" "" "" "g.36976410_36976412del" "" "benign" "" "0000404218" "0" "90" "5" "37059021" "37059022" "del" "0" "01318" "NIPBL_000120" "g.37059021_37059022del" "" "{PMID: Pié 2010:20358602}" "" "7438_7439delAG" "" "De novo" "" "" "0" "" "" "g.37058919_37058920del" "" "pathogenic" "" "0000404219" "0" "90" "5" "36985761" "36985762" "del" "0" "01318" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID: Pié 2010:20358602}" "" "2479_2480delAG" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic" "" "0000404220" "0" "90" "5" "37008725" "37008725" "subst" "0" "01318" "NIPBL_000220" "g.37008725G>T" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37008623G>T" "" "pathogenic" "" "0000404221" "0" "90" "5" "37044582" "37044582" "subst" "0" "01318" "NIPBL_000221" "g.37044582G>C" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37044480G>C" "" "pathogenic" "" "0000404222" "0" "90" "5" "36985428" "36985428" "subst" "0" "01318" "NIPBL_000222" "g.36985428C>T" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.36985326C>T" "" "pathogenic" "" "0000404223" "0" "90" "5" "36955740" "36955740" "subst" "0" "01318" "NIPBL_000223" "g.36955740G>A" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.36955638G>A" "" "pathogenic" "" "0000404224" "0" "90" "5" "37045650" "37045650" "subst" "0" "01318" "NIPBL_000224" "g.37045650T>C" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37045548T>C" "" "pathogenic" "" "0000404225" "0" "90" "5" "37024801" "37024803" "del" "0" "01318" "NIPBL_000225" "g.37024801_37024803del" "" "{PMID: Pié 2010:20358602}" "" "5689_5691delAAT" "" "De novo" "" "" "0" "" "" "g.37024699_37024701del" "" "pathogenic" "" "0000404226" "0" "90" "5" "37049329" "37049329" "subst" "0" "01318" "NIPBL_000226" "g.37049329C>T" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37049227C>T" "" "pathogenic" "" "0000404227" "0" "90" "5" "37008195" "37008195" "subst" "0" "01318" "NIPBL_000227" "g.37008195G>C" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37008093G>C" "" "pathogenic" "" "0000404228" "0" "90" "5" "37044757" "37044757" "subst" "0" "01318" "NIPBL_000228" "g.37044757G>T" "" "{PMID: Pié 2010:20358602}" "" "" "" "De novo" "" "" "0" "" "" "g.37044655G>T" "" "pathogenic" "" "0000404229" "0" "90" "5" "36953841" "36953841" "subst" "0" "00006" "NIPBL_000229" "g.36953841G>A" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36953739G>A" "" "pathogenic" "" "0000404230" "0" "90" "5" "36955595" "36955595" "subst" "0" "00006" "NIPBL_000123" "g.36955595C>A" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36955493C>A" "" "pathogenic" "" "0000404231" "0" "90" "5" "36958307" "36958307" "subst" "0" "00006" "NIPBL_000230" "g.36958307G>C" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36958205G>C" "" "pathogenic" "" "0000404232" "0" "90" "5" "36962301" "36962301" "subst" "0.00396419" "00006" "NIPBL_000231" "g.36962301G>A" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36962199G>A" "" "pathogenic" "" "0000404233" "0" "90" "5" "36962341" "36962341" "subst" "0" "00006" "NIPBL_000232" "g.36962341C>T" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36962239C>T" "" "pathogenic" "" "0000404234" "0" "90" "5" "36971104" "36971104" "subst" "0" "00006" "NIPBL_000113" "g.36971104A>G" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36971002A>G" "" "pathogenic" "" "0000404235" "0" "90" "5" "36971127" "36971127" "subst" "0" "00006" "NIPBL_000233" "g.36971127C>G" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "" "0" "" "" "g.36971025C>G" "" "pathogenic" "" "0000404236" "0" "90" "5" "36972056" "36972056" "subst" "0.00338132" "00006" "NIPBL_000234" "g.36972056T>G" "" "ESHG2010 Braunholz P11.015" "" "" "" "Germline" "" "rs16903425" "0" "" "" "g.36971954T>G" "" "pathogenic" "" "0000404237" "0" "90" "5" "37057331" "37057331" "subst" "0" "01318" "NIPBL_000236" "g.37057331C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37057229C>T" "" "pathogenic" "" "0000404238" "0" "90" "5" "37041104" "37103672" "delins" "0" "01320" "NIPBL_000237" "g.37041104_37103672delinsTTCATATCTTAAAGA" "-" "{PMID:Ratajska 2010:20727427}" "" "chr5:g.37076861-37139520delinsTTCATATCTTAAAGA (NCBI36)" "62.7 kb deletion" "Germline" "" "" "0" "" "" "g.37041002_37103570delinsTTCATATCTTAAAGA" "" "pathogenic" "" "0000404239" "0" "90" "5" "36986109" "36986109" "del" "0" "01320" "NIPBL_000238" "g.36986109del" "" "{PMID:Castronovo 2010:20331678}" "" "2827delA" "somatic mosaicism: 10% (peripheral blood) and 33% (buccal smear) of cells with mutation (pyrosequencing quantification)" "De novo" "" "" "0" "" "" "g.36986007del" "" "pathogenic" "" "0000404240" "0" "90" "5" "37022442" "37022442" "subst" "0" "01320" "NIPBL_000239" "g.37022442C>T" "" "{PMID: Hosokawa 2010:20156239}" "" "" "" "Germline" "" "" "0" "" "" "g.37022340C>T" "" "pathogenic" "" "0000404241" "0" "90" "5" "37010189" "37010189" "subst" "0" "00006" "NIPBL_000178" "g.37010189G>T" "-" "" "" "" "affects donor splice site (?); not in 160 control samples" "De novo" "" "" "0" "" "" "g.37010087G>T" "" "pathogenic" "" "0000404242" "0" "90" "5" "37064755" "37064755" "subst" "0" "01067" "NIPBL_000240" "g.37064755A>G" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37064653A>G" "" "pathogenic" "" "0000404243" "0" "90" "5" "36972144" "36972144" "subst" "0" "01067" "NIPBL_000241" "g.36972144G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.36972042G>A" "" "pathogenic" "" "0000404244" "0" "90" "5" "37022190" "37022190" "subst" "0" "01067" "NIPBL_000242" "g.37022190G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37022088G>A" "" "pathogenic" "" "0000404245" "0" "70" "5" "37048720" "37048720" "subst" "0" "01067" "NIPBL_000243" "g.37048720A>T" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37048618A>T" "" "likely pathogenic" "" "0000404246" "0" "30" "5" "36958231" "36958231" "subst" "0.00000407428" "01067" "NIPBL_000244" "g.36958231G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.36958129G>A" "" "likely benign" "" "0000404247" "0" "90" "5" "37052573" "37052573" "subst" "0" "01067" "NIPBL_000002" "g.37052573G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37052471G>A" "" "pathogenic" "" "0000404248" "0" "90" "5" "37052573" "37052573" "subst" "0" "01067" "NIPBL_000002" "g.37052573G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37052471G>A" "" "pathogenic" "" "0000404249" "0" "90" "5" "37007574" "37007574" "subst" "0" "00503" "NIPBL_000245" "g.37007574C>T" "" "{PMID:Kline 2007:17640042}" "" "" "" "Germline" "" "" "0" "" "" "g.37007472C>T" "" "pathogenic" "" "0000404250" "0" "90" "5" "37008780" "37008780" "subst" "0" "00503" "NIPBL_000068" "g.37008780C>A" "" "{PMID:Kline 2007:17640042}" "" "S1459X" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000404251" "0" "90" "5" "37022485" "37022485" "subst" "0" "00503" "NIPBL_000076" "g.37022485G>C" "" "{PMID:Kline 2007:17640042}" "" "" "not in 150 controls; conserved aminoacid in Rat, Mouse and Drosophila" "Germline" "" "" "0" "" "" "g.37022383G>C" "" "pathogenic" "" "0000404252" "0" "90" "5" "37049341" "37049341" "subst" "0" "00503" "NIPBL_000079" "g.37049341C>T" "" "{PMID:Kline 2007:17640042}" "" "" "conserved aminoacid in Rat, Mouse and Drosophila" "Germline" "" "" "0" "" "" "g.37049239C>T" "" "pathogenic" "" "0000404253" "0" "90" "5" "37049342" "37049342" "subst" "0" "00503" "NIPBL_000080" "g.37049342G>A" "" "{PMID:Kline 2007:17640042}" "" "" "conserved aminoacid in Rat, Mouse and Drosophila" "Germline" "" "" "0" "" "" "g.37049240G>A" "" "pathogenic" "" "0000404254" "0" "90" "5" "37052547" "37052547" "subst" "0" "00503" "NIPBL_000085" "g.37052547G>C" "" "{PMID:Kline 2007:17640042}" "" "" "conserved aminoacid in Rat and Mouse" "Germline/De novo (untested)" "" "" "0" "" "" "g.37052445G>C" "" "pathogenic" "" "0000404255" "0" "90" "5" "37022493" "37022493" "subst" "0" "00503" "NIPBL_000077" "g.37022493G>T" "" "{PMID:Kline 2007:17640042}" "" "" "" "Germline" "" "" "0" "" "" "g.37022391G>T" "" "pathogenic" "" "0000404256" "0" "90" "5" "36970976" "36970976" "subst" "0" "00503" "NIPBL_000049" "g.36970976A>G" "" "{PMID:Kline 2007:17640042}" "" "" "" "Germline" "" "" "0" "" "" "g.36970874A>G" "" "pathogenic" "" "0000404257" "0" "90" "5" "36986306" "36986310" "del" "0" "00503" "NIPBL_000038" "g.36986306_36986310del" "" "{PMID:Kline 2007:17640042}" "" "3023-3027delTGTCT" "" "Germline" "" "" "0" "" "" "g.36986204_36986208del" "" "pathogenic" "" "0000404258" "0" "90" "5" "36986251" "36986251" "del" "0" "00503" "NIPBL_000057" "g.36986251del" "" "{PMID:Kline 2007:17640042}" "" "2969delG" "" "Germline" "" "" "0" "" "" "g.36986149del" "" "pathogenic" "" "0000404259" "0" "90" "5" "37052615" "37052615" "del" "0" "00503" "NIPBL_000084" "g.37052615del" "" "{PMID:Kline 2007:17640042}" "" "7210delC" "" "Germline" "" "" "0" "" "" "g.37052513del" "" "pathogenic" "" "0000404260" "0" "90" "5" "36953811" "36953812" "dup" "0" "00503" "NIPBL_000247" "g.36953811_36953812dup" "" "{PMID:Kline 2007:17640042}" "" "13_14dupAT" "" "Germline" "" "" "0" "" "" "g.36953709_36953710dup" "" "pathogenic" "" "0000404261" "0" "90" "5" "37022442" "37022442" "subst" "0" "00503" "NIPBL_000239" "g.37022442C>T" "" "{PMID: Weichert 2011:21338332}" "" "" "" "Germline" "" "" "0" "" "" "g.37022340C>T" "" "pathogenic" "" "0000404262" "0" "90" "5" "37022442" "37022442" "subst" "0" "00503" "NIPBL_000239" "g.37022442C>T" "" "{PMID: Weichert 2011:21338332}" "" "" "gonadal mosaicism mother" "Germline" "" "" "0" "" "" "g.37022340C>T" "" "pathogenic" "" "0000404263" "0" "90" "5" "37038842" "37038842" "subst" "0" "01320" "NIPBL_000248" "g.37038842T>C" "" "{PMID: Park, 2010:20124326}" "" "" "not in 100 control chromosomes" "De novo" "" "" "0" "" "" "g.37038740T>C" "" "pathogenic" "" "0000404264" "0" "90" "5" "37006631" "37006631" "subst" "0" "01320" "NIPBL_000249" "g.37006631A>C" "" "{PMID: Park, 2010:20124326}" "" "" "not in 100 control chromosomes" "De novo" "" "" "0" "" "" "g.37006529A>C" "" "pathogenic" "" "0000404265" "21" "30" "5" "36955727" "36955727" "subst" "0" "01320" "NIPBL_000250" "g.36955727C>T" "" "{PMID: Park, 2010:20124326}" "" "" "not pathogenic, inherited from unaffected mother; not in 100 control chromosomes" "Germline/De novo (untested)" "" "" "0" "" "" "g.36955625C>T" "" "likely benign" "" "0000404266" "0" "90" "5" "37000486" "37000486" "subst" "0" "01067" "NIPBL_000218" "g.37000486C>T" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37000384C>T" "" "pathogenic" "" "0000404267" "0" "90" "5" "37051989" "37051989" "subst" "0" "01067" "NIPBL_000251" "g.37051989G>A" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37051887G>A" "" "pathogenic" "" "0000404268" "0" "90" "5" "37057359" "37057359" "del" "0" "01067" "NIPBL_000252" "g.37057359del" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37057257del" "" "pathogenic" "" "0000404269" "0" "70" "5" "37064034" "37064034" "subst" "0" "01067" "NIPBL_000253" "g.37064034A>G" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37063932A>G" "" "likely pathogenic" "" "0000404270" "0" "90" "5" "37022400" "37022400" "subst" "0" "01067" "NIPBL_000254" "g.37022400C>T" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.37022298C>T" "" "pathogenic" "" "0000404271" "0" "90" "5" "36976020" "36976020" "del" "0" "01067" "NIPBL_000255" "g.36976020del" "" "Redeker (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.36975918del" "" "pathogenic" "" "0000404272" "0" "70" "5" "36962216" "36962216" "subst" "0" "01067" "NIPBL_000256" "g.36962216G>A" "" "Redeker (unpublished)" "" "" "mosaicism; activation of cryptic acceptor splice site (bioinformatic prediction)" "De novo" "" "" "0" "" "" "g.36962114G>A" "" "likely pathogenic" "" "0000404273" "0" "90" "5" "37022190" "37022190" "subst" "0" "01067" "NIPBL_000242" "g.37022190G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.37022088G>A" "" "pathogenic" "" "0000404274" "0" "90" "5" "37052583" "37052583" "subst" "0" "01320" "NIPBL_000257" "g.37052583C>G" "" "{PMID: Park 2010:21165303}" "" "" "" "Germline" "" "" "0" "" "" "g.37052481C>G" "" "pathogenic" "" "0000404275" "0" "90" "5" "36984829" "36984829" "del" "0" "01320" "NIPBL_000258" "g.36984829del" "" "{PMID: Galehdari 2011:21707975}" "" "516delT" "not in 45 controls" "De novo" "" "" "0" "" "" "g.36984727del" "" "pathogenic" "" "0000404276" "0" "90" "5" "37024685" "37024685" "del" "0" "01320" "NIPBL_000259" "g.37024685del" "" "{PMID: Wierzba2011:21666440}" "" "5575-2delA" "inherited translocation t(3;5)(p13;q11) was also identified" "Germline" "" "" "0" "" "" "g.37024583del" "" "pathogenic" "" "0000404277" "0" "90" "5" "36985167" "36985167" "subst" "0" "01321" "NIPBL_000099" "g.36985167C>T" "" "" "" "" "mosaicism suspected" "Germline" "" "" "0" "" "" "g.36985065C>T" "" "pathogenic" "" "0000404278" "0" "70" "5" "37051909" "37051909" "subst" "0" "01321" "NIPBL_000260" "g.37051909C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37051807C>G" "" "likely pathogenic" "" "0000404279" "0" "90" "5" "0" "0" "" "0" "01321" "NIPBL_000261" "g.?" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000404280" "0" "70" "5" "37022389" "37022389" "subst" "0" "01321" "NIPBL_000200" "g.37022389C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37022287C>T" "" "likely pathogenic" "" "0000404281" "0" "90" "5" "0" "0" "" "0" "01321" "NIPBL_000262" "g.?" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000404282" "0" "90" "5" "36955595" "36955595" "del" "0" "01321" "NIPBL_000263" "g.36955595del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36955493del" "" "pathogenic" "" "0000404283" "0" "70" "5" "37044766" "37044766" "subst" "0" "01322" "NIPBL_000264" "g.37044766G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37044664G>T" "" "likely pathogenic" "" "0000404284" "0" "70" "5" "36955699" "36955699" "subst" "0" "01322" "NIPBL_000265" "g.36955699C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36955597C>T" "" "likely pathogenic" "" "0000404285" "0" "70" "5" "36985704" "36985704" "subst" "0" "01322" "NIPBL_000005" "g.36985704C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36985602C>T" "" "likely pathogenic" "" "0000404286" "0" "50" "5" "37026430" "37026430" "subst" "0" "01322" "NIPBL_000208" "g.37026430G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37026328G>A" "" "VUS" "" "0000404287" "0" "70" "5" "37045668" "37045668" "subst" "0" "01322" "NIPBL_000266" "g.37045668T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37045566T>G" "" "likely pathogenic" "" "0000404288" "0" "50" "5" "37008829" "37008829" "subst" "0" "01322" "NIPBL_000267" "g.37008829A>G" "" "" "" "" "Possible splice site mutation, parental DNA unavailable" "Germline" "" "" "0" "" "" "g.37008727A>G" "" "VUS" "" "0000404289" "0" "90" "5" "37048661" "37048661" "subst" "0" "01323" "NIPBL_000268" "g.37048661A>C" "" "{PMID:Baquero-Montoya 2014:24635725}" "" "" "Somatic mosaicism" "Somatic" "" "" "0" "" "" "g.37048559A>C" "" "pathogenic" "" "0000404309" "0" "90" "5" "37007431" "37007431" "subst" "0" "01325" "NIPBL_000275" "g.37007431T>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37007329T>A" "" "pathogenic" "" "0000404310" "0" "90" "5" "37016247" "37016247" "subst" "0" "01325" "NIPBL_000276" "g.37016247T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37016145T>G" "" "pathogenic" "" "0000404311" "0" "90" "5" "37020980" "37020980" "subst" "0" "01325" "NIPBL_000277" "g.37020980G>C" "" "" "" "" "Skipping of exon 27, resulting in a frameshift" "De novo" "" "" "0" "" "" "g.37020878G>C" "" "pathogenic" "" "0000404320" "0" "70" "5" "36958334" "36958334" "subst" "0" "02558" "NIPBL_000290" "g.36958334G>A" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.36958232G>A" "" "likely pathogenic" "" "0000404321" "0" "70" "5" "36958334" "36958334" "subst" "0" "02558" "NIPBL_000290" "g.36958334G>A" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.36958232G>A" "" "likely pathogenic" "" "0000404322" "0" "70" "5" "36975876" "36975876" "subst" "0" "02558" "NIPBL_000291" "g.36975876A>G" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.36975774A>G" "" "likely pathogenic" "" "0000404323" "0" "70" "5" "36975876" "36975876" "subst" "0" "02558" "NIPBL_000291" "g.36975876A>G" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.36975774A>G" "" "likely pathogenic" "" "0000404324" "0" "70" "5" "37006454" "37006454" "del" "0" "02558" "NIPBL_000292" "g.37006454del" "" "{PMID: Selicorni 2007:17661813}; {PMID: Teresa-Rodrigo 2014:24918291}" "" "3856-5delT" "" "Germline" "" "" "0" "" "" "g.37006352del" "" "likely pathogenic" "" "0000404325" "0" "70" "5" "37008194" "37008194" "subst" "0" "02558" "NIPBL_000293" "g.37008194A>G" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37008092A>G" "" "likely pathogenic" "" "0000404326" "0" "70" "5" "37020980" "37020980" "subst" "0" "02558" "NIPBL_000294" "g.37020980G>A" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37020878G>A" "" "likely pathogenic" "" "0000404327" "0" "70" "5" "37022147" "37022147" "subst" "0" "02558" "NIPBL_000295" "g.37022147T>G" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37022045T>G" "" "likely pathogenic" "" "0000404328" "0" "70" "5" "37022147" "37022147" "subst" "0" "02558" "NIPBL_000295" "g.37022147T>G" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37022045T>G" "" "likely pathogenic" "" "0000404329" "0" "70" "5" "37024686" "37024686" "subst" "0" "02558" "NIPBL_000296" "g.37024686G>A" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37024584G>A" "" "likely pathogenic" "" "0000404330" "21" "10" "5" "37044446" "37044446" "subst" "0.00408569" "02558" "NIPBL_000078" "g.37044446T>C" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "Variant does not affects acceptor site score/ strength" "Germline" "" "" "0" "" "" "g.37044344T>C" "" "benign" "" "0000404331" "0" "70" "5" "37061125" "37061125" "subst" "0" "02558" "NIPBL_000297" "g.37061125G>A" "" "{PMID:Teresa-Rodrigo 2014:24918291}" "" "" "" "Germline" "" "" "0" "" "" "g.37061023G>A" "" "likely pathogenic" "" "0000404332" "0" "50" "5" "37008803" "37008803" "subst" "0" "01175" "NIPBL_000298" "g.37008803A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37008701A>T" "" "VUS" "" "0000404333" "0" "50" "5" "37022401" "37022401" "subst" "0" "01175" "NIPBL_000100" "g.37022401G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.37022299G>A" "" "VUS" "" "0000404880" "0" "30" "5" "36958307" "36958307" "subst" "0" "00503" "NIPBL_000230" "g.36958307G>C" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36958205G>C" "" "NA" "" "0000404881" "0" "30" "5" "36971104" "36971104" "subst" "0" "00503" "NIPBL_000113" "g.36971104A>G" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36971002A>G" "" "NA" "" "0000404882" "0" "30" "5" "36971127" "36971127" "subst" "0" "00503" "NIPBL_000233" "g.36971127C>G" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36971025C>G" "" "NA" "" "0000404883" "0" "30" "5" "36962301" "36962301" "subst" "0.00396419" "00503" "NIPBL_000231" "g.36962301G>A" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36962199G>A" "" "NA" "" "0000404884" "0" "30" "5" "36972056" "36972056" "subst" "0.00338132" "00503" "NIPBL_000234" "g.36972056T>G" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36971954T>G" "" "NA" "" "0000404885" "0" "50" "5" "36962341" "36962341" "subst" "0" "00503" "NIPBL_000232" "g.36962341C>T" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: no effect on NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36962239C>T" "" "NA" "" "0000404886" "0" "90" "5" "36953841" "36953841" "subst" "0" "00503" "NIPBL_000229" "g.36953841G>A" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36953739G>A" "" "NA" "" "0000404887" "0" "90" "5" "36955595" "36955595" "subst" "0" "00503" "NIPBL_000123" "g.36955595C>A" "" "ESHG2010 Braunholz P11.015" "" "" "yeast two-hybrid analysis: abolishes NIBPL-MAU2 interaction" "In vitro (cloned)" "" "" "0" "" "" "g.36955493C>A" "" "NA" "" "0000408750" "0" "90" "5" "37024801" "37024803" "del" "0" "00006" "NIPBL_000225" "g.37024801_37024803del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "5689_5691delAAT" "" "De novo" "" "" "0" "" "" "g.37024699_37024701del" "" "pathogenic (dominant)" "" "0000446869" "0" "50" "5" "36986291" "36986293" "del" "0" "00006" "NIPBL_000309" "g.36986291_36986293del" "" "{PMID:Reynhout 2019:30595372}" "" "Val1003del" "" "De novo" "" "" "0" "" "" "g.36986189_36986191del" "" "VUS" "" "0000525569" "0" "50" "5" "36958288" "36958288" "subst" "0.0000163333" "02325" "NIPBL_000332" "g.36958288A>G" "" "" "" "NIPBL(NM_015384.5):c.313A>G (p.N105D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36958186A>G" "" "VUS" "" "0000525571" "0" "30" "5" "36972109" "36972109" "subst" "0.000187118" "01943" "NIPBL_000334" "g.36972109A>G" "" "" "" "NIPBL(NM_015384.4):c.834A>G (p.V278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36972007A>G" "" "likely benign" "" "0000525572" "0" "30" "5" "36976512" "36976514" "del" "0" "01943" "NIPBL_000219" "g.36976512_36976514del" "" "" "" "NIPBL(NM_015384.4):c.1495+8_1495+10del (p.(=)), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36976410_36976412del" "" "likely benign" "" "0000525573" "0" "50" "5" "36984861" "36984861" "subst" "0" "01943" "NIPBL_000335" "g.36984861G>C" "" "" "" "NIPBL(NM_015384.4):c.1579G>C (p.E527Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36984759G>C" "" "VUS" "" "0000525574" "0" "10" "5" "36985247" "36985247" "subst" "0.000790668" "01943" "NIPBL_000189" "g.36985247G>T" "" "" "" "NIPBL(NM_015384.4):c.1965G>T (p.E655D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985145G>T" "" "benign" "" "0000525575" "0" "30" "5" "36985538" "36985538" "subst" "0.000188471" "02325" "NIPBL_000336" "g.36985538A>G" "" "" "" "NIPBL(NM_015384.5):c.2256A>G (p.E752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985436A>G" "" "likely benign" "" "0000525576" "0" "30" "5" "36985631" "36985631" "subst" "0.000849872" "01943" "NIPBL_000337" "g.36985631A>G" "" "" "" "NIPBL(NM_015384.4):c.2349A>G (p.K783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985529A>G" "" "likely benign" "" "0000525577" "0" "30" "5" "36985689" "36985689" "subst" "0" "01804" "NIPBL_000338" "g.36985689C>G" "" "" "" "NIPBL(NM_015384.4):c.2407C>G (p.(Gln803Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985587C>G" "" "likely benign" "" "0000525578" "0" "50" "5" "36985804" "36985804" "subst" "0.00000815175" "01943" "NIPBL_000339" "g.36985804G>A" "" "" "" "NIPBL(NM_015384.4):c.2522G>A (p.R841Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985702G>A" "" "VUS" "" "0000525579" "0" "50" "5" "36985885" "36985885" "subst" "0.000244381" "02327" "NIPBL_000340" "g.36985885G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985783G>A" "" "VUS" "" "0000525581" "0" "50" "5" "37000622" "37000622" "subst" "0" "01804" "NIPBL_000342" "g.37000622C>A" "" "" "" "NIPBL(NM_015384.4):c.3452C>A (p.(Pro1151Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37000520C>A" "" "VUS" "" "0000525582" "0" "10" "5" "37008832" "37008832" "subst" "0.00795362" "01804" "NIPBL_000343" "g.37008832A>G" "" "" "" "NIPBL(NM_015384.4):c.4421+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37008730A>G" "" "benign" "" "0000525583" "0" "90" "5" "37020588" "37020588" "subst" "0" "02325" "NIPBL_000344" "g.37020588T>C" "" "" "" "NIPBL(NM_015384.5):c.5038T>C (p.W1680R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37020486T>C" "" "pathogenic" "" "0000525584" "0" "90" "5" "37020594" "37020594" "subst" "0" "02327" "NIPBL_000345" "g.37020594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37020492C>T" "" "pathogenic" "" "0000525585" "0" "50" "5" "37020896" "37020896" "subst" "0.0000121881" "01804" "NIPBL_000346" "g.37020896G>A" "" "" "" "NIPBL(NM_015384.4):c.5245G>A (p.(Asp1749Asn)), NIPBL(NM_133433.4):c.5245G>A (p.D1749N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37020794G>A" "" "VUS" "" "0000525586" "0" "90" "5" "37022159" "37022159" "subst" "0" "02327" "NIPBL_000347" "g.37022159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37022057C>T" "" "pathogenic" "" "0000525587" "0" "30" "5" "37044446" "37044446" "subst" "0.00408569" "01804" "NIPBL_000078" "g.37044446T>C" "" "" "" "NIPBL(NM_015384.4):c.6109-3T>C (, p.?), NIPBL(NM_015384.5):c.6109-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37044344T>C" "" "likely benign" "" "0000525588" "0" "30" "5" "37049406" "37049406" "subst" "0.0000284557" "02326" "NIPBL_000318" "g.37049406A>G" "" "" "" "NIPBL(NM_015384.4):c.6954+3A>G (p.?), NIPBL(NM_015384.5):c.6954+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37049304A>G" "" "likely benign" "" "0000525589" "0" "70" "5" "37057358" "37057358" "subst" "0" "02327" "NIPBL_000348" "g.37057358A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37057256A>C" "" "likely pathogenic" "" "0000525590" "0" "30" "5" "37059177" "37059177" "subst" "0.00000820897" "02327" "NIPBL_000349" "g.37059177C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37059075C>T" "" "likely benign" "" "0000525591" "0" "50" "5" "37059272" "37059272" "subst" "0" "01943" "NIPBL_000350" "g.37059272G>C" "" "" "" "NIPBL(NM_015384.4):c.7685+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37059170G>C" "" "VUS" "" "0000525592" "0" "50" "5" "37061067" "37061067" "subst" "0.000109702" "01943" "NIPBL_000351" "g.37061067A>T" "" "" "" "NIPBL(NM_015384.4):c.7807A>T (p.N2603Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37060965A>T" "" "VUS" "" "0000525594" "0" "30" "5" "37061090" "37061090" "subst" "0.00182523" "01943" "NIPBL_000352" "g.37061090G>C" "" "" "" "NIPBL(NM_015384.4):c.7830G>C (p.V2610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37060988G>C" "" "likely benign" "" "0000525595" "0" "50" "5" "37064647" "37064647" "subst" "0" "02327" "NIPBL_000353" "g.37064647C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37064545C>T" "" "VUS" "" "0000525596" "0" "50" "5" "37064853" "37064853" "del" "0" "01943" "NIPBL_000354" "g.37064853del" "" "" "" "NIPBL(NM_133433.3):c.8274delA (p.K2758Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37064751del" "" "VUS" "" "0000609700" "0" "30" "5" "36958269" "36958269" "subst" "0.000346602" "01943" "NIPBL_000356" "g.36958269C>T" "" "" "" "NIPBL(NM_015384.4):c.294C>T (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36958167C>T" "" "likely benign" "" "0000609701" "0" "90" "5" "36961657" "36961657" "subst" "0" "02327" "NIPBL_000357" "g.36961657C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36961555C>T" "" "pathogenic" "" "0000609702" "0" "90" "5" "36984957" "36984957" "subst" "0" "02327" "NIPBL_000359" "g.36984957C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36984855C>T" "" "pathogenic" "" "0000609703" "0" "30" "5" "36985358" "36985358" "subst" "0.00000409159" "01943" "NIPBL_000360" "g.36985358A>G" "" "" "" "NIPBL(NM_015384.4):c.2076A>G (p.R692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36985256A>G" "" "likely benign" "" "0000609704" "0" "50" "5" "36995741" "36995741" "subst" "0" "01943" "NIPBL_000361" "g.36995741G>T" "" "" "" "NIPBL(NM_015384.4):c.3139G>T (p.V1047L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36995639G>T" "" "VUS" "" "0000609705" "0" "50" "5" "37006472" "37006472" "subst" "0" "01804" "NIPBL_000362" "g.37006472A>G" "" "" "" "NIPBL(NM_015384.4):c.3869A>G (p.(Glu1290Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37006370A>G" "" "VUS" "" "0000609706" "0" "30" "5" "37044841" "37044841" "subst" "0.00000815169" "01943" "NIPBL_000363" "g.37044841A>G" "" "" "" "NIPBL(NM_015384.4):c.6343+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37044739A>G" "" "likely benign" "" "0000609707" "0" "30" "5" "37059056" "37059056" "subst" "0.0000041029" "01943" "NIPBL_000364" "g.37059056G>A" "" "" "" "NIPBL(NM_015384.4):c.7474G>A (p.D2492N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37058954G>A" "" "likely benign" "" "0000621564" "0" "30" "5" "36962301" "36962301" "subst" "0.00396419" "01943" "NIPBL_000231" "g.36962301G>A" "" "" "" "NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36962199G>A" "" "likely benign" "" "0000621565" "0" "50" "5" "36972059" "36972059" "subst" "0" "02325" "NIPBL_000358" "g.36972059T>C" "" "" "" "NIPBL(NM_015384.5):c.784T>C (p.S262P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36971957T>C" "" "VUS" "" "0000621567" "0" "90" "5" "37052624" "37052624" "subst" "0" "02325" "NIPBL_000151" "g.37052624C>T" "" "" "" "NIPBL(NM_015384.5):c.7219C>T (p.R2407*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37052522C>T" "" "pathogenic" "" "0000631937" "0" "90" "5" "36995824" "36995825" "ins" "0" "01807" "NIPBL_000365" "g.36995824_36995825insT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.36995722_36995723insT" "" "pathogenic" "" "0000651700" "1" "90" "5" "36953801" "36953801" "subst" "0" "03575" "NIPBL_000366" "g.36953801G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783937}" "Germline" "" "rs587783937" "0" "" "" "g.36953699G>T" "" "pathogenic" "" "0000651701" "1" "70" "5" "36958338" "36958338" "subst" "0" "03575" "NIPBL_000367" "g.36958338G>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783928}" "Germline" "" "rs587783928" "0" "" "" "g.36958236G>C" "" "likely pathogenic" "" "0000651702" "1" "90" "5" "36962364" "36962364" "subst" "0" "03575" "NIPBL_000368" "g.36962364C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs587783988}" "Germline" "" "rs587783988" "0" "" "" "g.36962262C>T" "" "pathogenic" "" "0000651703" "1" "90" "5" "36962377" "36962377" "subst" "0" "03575" "NIPBL_000369" "g.36962377G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783993}" "Germline" "" "rs587783993" "0" "" "" "g.36962275G>A" "" "pathogenic" "" "0000651705" "1" "50" "5" "36985729" "36985729" "subst" "0.000404164" "03575" "NIPBL_000308" "g.36985729G>A" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs80358359}" "Germline" "" "rs80358359" "0" "" "" "g.36985627G>A" "" "VUS" "" "0000651706" "1" "90" "5" "37000492" "37000492" "subst" "0" "03575" "NIPBL_000371" "g.37000492A>T" "6/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs587783919}" "Germline" "" "rs587783919" "0" "" "" "g.37000390A>T" "" "pathogenic" "" "0000651707" "1" "70" "5" "37000610" "37000610" "subst" "0" "03575" "NIPBL_000372" "g.37000610G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783921}" "Germline" "" "rs587783921" "0" "" "" "g.37000508G>A" "" "likely pathogenic" "" "0000651708" "1" "90" "5" "37014817" "37014817" "subst" "0" "03575" "NIPBL_000373" "g.37014817T>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783952}" "Germline" "" "rs587783952" "0" "" "" "g.37014715T>G" "" "pathogenic" "" "0000651709" "1" "90" "5" "37016208" "37016208" "subst" "0" "03575" "NIPBL_000374" "g.37016208C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs77632238}" "Germline" "" "rs77632238" "0" "" "" "g.37016106C>A" "" "pathogenic" "" "0000651710" "1" "90" "5" "37022373" "37022373" "subst" "0" "03575" "NIPBL_000109" "g.37022373C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783975}" "Germline" "" "rs587783975" "0" "" "" "g.37022271C>T" "" "pathogenic" "" "0000651711" "1" "30" "5" "37024802" "37024802" "subst" "0.0000773779" "03575" "NIPBL_000375" "g.37024802A>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs190086412}" "Germline" "" "rs190086412" "0" "" "" "g.37024700A>G" "" "likely benign" "" "0000651712" "1" "90" "5" "37024823" "37024823" "subst" "0" "03575" "NIPBL_000376" "g.37024823T>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783980}" "Germline" "" "rs587783980" "0" "" "" "g.37024721T>G" "" "pathogenic" "" "0000651713" "1" "90" "5" "37026430" "37026430" "subst" "0" "03575" "NIPBL_000208" "g.37026430G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783984}" "Germline" "" "rs587783984" "0" "" "" "g.37026328G>A" "" "pathogenic" "" "0000651714" "1" "70" "5" "37036541" "37036541" "subst" "0" "03575" "NIPBL_000377" "g.37036541G>T" "2/2765 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587783986}" "Germline" "" "rs587783986" "0" "" "" "g.37036439G>T" "" "likely pathogenic" "" "0000651715" "1" "90" "5" "37049404" "37049404" "subst" "0" "03575" "NIPBL_000378" "g.37049404G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs587784027}" "Germline" "" "rs587784027" "0" "" "" "g.37049302G>A" "" "pathogenic" "" "0000651716" "1" "90" "5" "37057351" "37057351" "subst" "0" "03575" "NIPBL_000379" "g.37057351C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs80358370}" "Germline" "" "rs80358370" "0" "" "" "g.37057249C>T" "" "pathogenic" "" "0000653308" "1" "90" "5" "36986185" "36986185" "del" "0" "03575" "NIPBL_000370" "g.36986185del" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs587783912}" "Germline" "" "rs587783912" "0" "" "" "g.36986083del" "" "pathogenic" "" "0000655375" "0" "30" "5" "36955688" "36955688" "subst" "0.000121909" "01943" "NIPBL_000380" "g.36955688A>G" "" "" "" "NIPBL(NM_015384.4):c.179A>G (p.N60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36955586A>G" "" "likely benign" "" "0000655376" "0" "50" "5" "36972077" "36972077" "subst" "0" "01943" "NIPBL_000381" "g.36972077G>A" "" "" "" "NIPBL(NM_015384.4):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36971975G>A" "" "VUS" "" "0000655377" "0" "50" "5" "37007566" "37007568" "del" "0" "02325" "NIPBL_000382" "g.37007566_37007568del" "" "" "" "NIPBL(NM_015384.5):c.4229_4231delCAA (p.T1410del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37007464_37007466del" "" "VUS" "" "0000655378" "0" "30" "5" "37008112" "37008112" "subst" "0" "01943" "NIPBL_000383" "g.37008112T>G" "" "" "" "NIPBL(NM_015384.4):c.4242T>G (p.V1414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37008010T>G" "" "likely benign" "" "0000659780" "0" "70" "5" "37022152" "37022152" "subst" "0" "01164" "NIPBL_000384" "g.37022152G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.37022050G>T" "" "likely pathogenic" "ACMG" "0000673988" "0" "70" "5" "37049341" "37049341" "subst" "0" "03695" "NIPBL_000079" "g.37049341C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677506" "0" "50" "5" "36985509" "36985509" "subst" "0.00000819773" "01943" "NIPBL_000385" "g.36985509C>T" "" "" "" "NIPBL(NM_015384.4):c.2227C>T (p.R743C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677507" "0" "70" "5" "36985864" "36985864" "subst" "0" "02327" "NIPBL_000386" "g.36985864C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677508" "0" "50" "5" "37022454" "37022454" "subst" "0.0000284912" "01943" "NIPBL_000387" "g.37022454G>A" "" "" "" "NIPBL(NM_015384.4):c.5536G>A (p.A1846T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689512" "0" "50" "5" "36985138" "36985138" "subst" "0" "01943" "NIPBL_000388" "g.36985138G>A" "" "" "" "NIPBL(NM_015384.4):c.1856G>A (p.R619K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689513" "0" "70" "5" "37045572" "37045572" "subst" "0" "02325" "NIPBL_000389" "g.37045572A>C" "" "" "" "NIPBL(NM_133433.4):c.6371A>C (p.H2124P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689514" "0" "50" "5" "37052625" "37052625" "subst" "0" "02327" "NIPBL_000390" "g.37052625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698343" "0" "70" "5" "37044793" "37044793" "subst" "0" "00006" "NIPBL_000391" "g.37044793A>G" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37044691A>G" "" "likely pathogenic" "ACMG" "0000698344" "0" "90" "5" "37048755" "37048756" "ins" "0" "00006" "NIPBL_000392" "g.37048755_37048756insGC" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37048653_37048654insGC" "" "pathogenic" "ACMG" "0000720415" "0" "30" "5" "36972056" "36972056" "subst" "0.00338132" "01804" "NIPBL_000234" "g.36972056T>G" "" "" "" "NIPBL(NM_015384.4):c.781T>G (p.(Ser261Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720416" "0" "30" "5" "36985446" "36985446" "subst" "0" "01804" "NIPBL_000393" "g.36985446C>T" "" "" "" "NIPBL(NM_015384.4):c.2164C>T (p.(Pro722Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720417" "0" "30" "5" "37019404" "37019404" "subst" "0" "01943" "NIPBL_000394" "g.37019404A>G" "" "" "" "NIPBL(NM_015384.4):c.4921-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720418" "0" "90" "5" "37022190" "37022190" "subst" "0" "02329" "NIPBL_000242" "g.37022190G>A" "" "" "" "NIPBL(NM_015384.5):c.5366G>A (p.R1789Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720419" "0" "70" "5" "37022485" "37022485" "subst" "0" "02329" "NIPBL_000076" "g.37022485G>C" "" "" "" "NIPBL(NM_015384.5):c.5567G>C (p.R1856T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720420" "0" "90" "5" "37045667" "37045667" "subst" "0" "02329" "NIPBL_000316" "g.37045667T>A" "" "" "" "NIPBL(NM_015384.5):c.6466T>A (p.F2156I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720421" "0" "50" "5" "37051902" "37051902" "subst" "0" "02325" "NIPBL_000396" "g.37051902A>G" "" "" "" "NIPBL(NM_133433.4):c.6976A>G (p.M2326V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730029" "1" "90" "5" "37022382" "37022382" "subst" "0" "00000" "NIPBL_000395" "g.37022382G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_133433.3:c.5464G>C:p.(Asp1822His)" "" "Germline" "" "" "0" "" "" "g.37022280G>C" "" "pathogenic" "" "0000736053" "0" "70" "5" "36986404" "36986404" "subst" "0" "01164" "NIPBL_000397" "g.36986404G>C" "" "" "" "" "ACMG: PVS1, PM2_Sup: class 3" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000786651" "0" "70" "5" "37000595" "37000595" "dup" "0" "00006" "NIPBL_000398" "g.37000595dup" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37000493dup" "" "likely pathogenic" "" "0000786962" "0" "90" "5" "36985971" "36985971" "subst" "0" "00006" "NIPBL_000401" "g.36985971C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.36985869C>T" "" "pathogenic" "" "0000786963" "0" "90" "5" "37020923" "37020923" "subst" "0" "00006" "NIPBL_000073" "g.37020923C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.37020821C>T" "" "pathogenic" "" "0000787100" "0" "70" "5" "36995724" "37038840" "del" "0" "00006" "NIPBL_000402" "g.(?_36995724)_(37038840_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr5:36995724-?_37038840+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000787101" "0" "70" "5" "36958206" "36958333" "del" "0" "00006" "NIPBL_000399" "g.(?_36958206)_(36958333_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr5:36958206-?_36958333+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000787334" "0" "50" "5" "36958231" "36958231" "subst" "0.00000407428" "00006" "NIPBL_000244" "g.36958231G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1188531884" "0" "" "" "g.36958129G>A" "" "VUS" "" "0000787335" "0" "50" "5" "37010186" "37010186" "subst" "0" "00006" "NIPBL_000403" "g.37010186A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.37010084A>G" "" "VUS" "" "0000787336" "0" "50" "5" "37038847" "37038847" "subst" "0" "00006" "NIPBL_000404" "g.37038847A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs587783995" "0" "" "" "g.37038745A>G" "{CV-RCV:000146668.1}" "VUS" "" "0000787337" "0" "50" "5" "37044446" "37044446" "subst" "0.00408569" "00006" "NIPBL_000078" "g.37044446T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs145778995" "0" "" "" "g.37044344T>C" "{CV-RCV:000082498.9}" "VUS" "" "0000787338" "0" "50" "5" "37059221" "37059221" "subst" "0.00000410448" "00006" "NIPBL_000405" "g.37059221C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs774934420" "0" "" "" "g.37059119C>T" "" "VUS" "" "0000787556" "0" "50" "5" "36985705" "36985705" "subst" "0.00000408834" "00000" "NIPBL_000400" "g.36985705G>C" "" "0" "" "" "" "Germline" "" "rs142574933" "0" "" "" "g.36985603G>C" "" "VUS" "" "0000791665" "21" "70" "5" "37059135" "37059135" "subst" "0.00000410229" "04131" "NIPBL_000406" "g.37059135A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000794111" "0" "70" "5" "36976246" "36976246" "subst" "0.00000408017" "03508" "NIPBL_000407" "g.36976246C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000795685" "0" "50" "5" "37000601" "37000601" "subst" "0" "00000" "NIPBL_000408" "g.37000601G>A" "" "{PMID:Ivanova 2018:30358468}" "" "c.G3431A; p.G1144D" "" "Germline" "?" "" "0" "" "" "g.37000499G>A" "" "likely pathogenic" "" "0000802085" "0" "50" "5" "36962273" "36962273" "subst" "0" "02329" "NIPBL_000304" "g.36962273G>T" "" "" "" "NIPBL(NM_015384.4):c.507G>T (p.(Gln169His)), NIPBL(NM_015384.5):c.507G>T (p.Q169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802086" "0" "30" "5" "36962301" "36962301" "subst" "0.00396419" "01804" "NIPBL_000231" "g.36962301G>A" "" "" "" "NIPBL(NM_015384.4):c.535G>A (p.A179T, p.(Ala179Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802087" "0" "30" "5" "36976330" "36976330" "subst" "0.000073373" "01943" "NIPBL_000409" "g.36976330A>G" "" "" "" "NIPBL(NM_015384.4):c.1321A>G (p.T441A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802088" "0" "30" "5" "36976512" "36976514" "del" "0" "02325" "NIPBL_000219" "g.36976512_36976514del" "" "" "" "NIPBL(NM_015384.4):c.1495+8_1495+10del (p.(=)), NIPBL(NM_015384.4):c.1495+8_1495+10delAAT, NIPBL(NM_133433.4):c.1495+8_1495+10delAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802089" "0" "90" "5" "36984861" "36984861" "subst" "0" "02329" "NIPBL_000410" "g.36984861G>T" "" "" "" "NIPBL(NM_015384.5):c.1579G>T (p.E527*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802090" "0" "90" "5" "37052573" "37052573" "subst" "0" "02329" "NIPBL_000002" "g.37052573G>A" "" "" "" "NIPBL(NM_015384.5):c.7168G>A (p.A2390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000822510" "0" "70" "5" "36958247" "36958255" "del" "0" "01164" "NIPBL_000411" "g.36958247_36958255del" "" "" "" "" "ACMG: PS2, PM4, PM2_SUP; confirmed de novo in trio-exome analysis" "De novo" "yes" "" "0" "" "" "g.36958145_36958153del" "" "likely pathogenic (dominant)" "ACMG" "0000846213" "0" "70" "5" "36985252" "36985252" "subst" "0" "04178" "NIPBL_000412" "g.36985252G>T" "" "{DOI:Hussen 2020:10.4103/MXE.MXE_14_20}" "" "2469G>T (R657I)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36985150G>T" "" "VUS" "ACMG" "0000846451" "0" "30" "5" "37052821" "37052821" "subst" "0" "04178" "NIPBL_000413" "g.37052821A>T" "" "{DOI:Hussen 2020:10.4103/MXE.MXE_14_20}" "" "" "" "Germline/De novo (untested)" "" "rs300059" "0" "" "" "g.37052719A>T" "" "likely benign" "" "0000850899" "0" "50" "5" "36976256" "36976256" "subst" "0" "02325" "NIPBL_000414" "g.36976256C>G" "" "" "" "NIPBL(NM_133433.4):c.1247C>G (p.A416G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850900" "0" "50" "5" "36986317" "36986317" "subst" "0" "01943" "NIPBL_000415" "g.36986317A>T" "" "" "" "NIPBL(NM_015384.4):c.3035A>T (p.D1012V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859916" "0" "50" "5" "37045576" "37045576" "subst" "0" "01804" "NIPBL_000416" "g.37045576A>C" "" "" "" "NIPBL(NM_133433.3):c.6375A>C (p.(Gln2125His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881300" "0" "70" "5" "37064963" "37064963" "subst" "0" "02300" "NIPBL_000417" "g.37064963T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.37064861T>C" "" "likely pathogenic (dominant)" "ACMG" "0000886815" "0" "90" "5" "36970972" "36970972" "subst" "0" "02329" "NIPBL_000125" "g.36970972T>C" "" "" "" "NIPBL(NM_015384.5):c.611-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886816" "0" "50" "5" "36976198" "36976198" "subst" "0" "02325" "NIPBL_000418" "g.36976198C>G" "" "" "" "NIPBL(NM_133433.4):c.1189C>G (p.P397A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886817" "0" "90" "5" "37010328" "37010328" "subst" "0" "02326" "NIPBL_000419" "g.37010328G>C" "" "" "" "NIPBL(NM_133433.4):c.4560+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886818" "0" "90" "5" "37016137" "37016137" "subst" "0" "02329" "NIPBL_000420" "g.37016137C>G" "" "" "" "NIPBL(NM_015384.5):c.4644-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886819" "0" "30" "5" "37020651" "37020651" "subst" "0.0000487666" "02325" "NIPBL_000421" "g.37020651T>C" "" "" "" "NIPBL(NM_133433.4):c.5101T>C (p.S1701P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886820" "0" "70" "5" "37022409" "37022409" "subst" "0" "02327" "NIPBL_000422" "g.37022409G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886821" "0" "50" "5" "37045655" "37045655" "subst" "0" "02325" "NIPBL_000423" "g.37045655C>T" "" "" "" "NIPBL(NM_133433.4):c.6454C>T (p.R2152W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886822" "0" "90" "5" "37049341" "37049341" "subst" "0" "02327" "NIPBL_000079" "g.37049341C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000904819" "0" "70" "5" "36976420" "36976420" "subst" "0" "00006" "NIPBL_000424" "g.36976420T>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.36976318T>G" "" "VUS" "" "0000912327" "0" "50" "5" "36985933" "36985933" "subst" "0.0000040712" "02329" "NIPBL_000425" "g.36985933G>A" "" "" "" "NIPBL(NM_133433.4):c.2651G>A (p.G884E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912328" "0" "50" "5" "37020896" "37020896" "subst" "0.0000121881" "02325" "NIPBL_000346" "g.37020896G>A" "" "" "" "NIPBL(NM_015384.4):c.5245G>A (p.(Asp1749Asn)), NIPBL(NM_133433.4):c.5245G>A (p.D1749N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912329" "0" "50" "5" "37045598" "37045598" "subst" "0" "01804" "NIPBL_000426" "g.37045598C>T" "" "" "" "NIPBL(NM_015384.4):c.6397C>T (p.(Leu2133Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912330" "0" "50" "5" "37059003" "37059003" "subst" "0" "02325" "NIPBL_000427" "g.37059003A>C" "" "" "" "NIPBL(NM_133433.4):c.7421A>C (p.K2474T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920413" "0" "50" "5" "37057441" "37057441" "del" "0" "01164" "NIPBL_000428" "g.37057441del" "" "" "" "" "ACMG: PS2, PM2_SUP; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.37057339del" "" "VUS (!)" "ACMG" "0000924334" "0" "50" "5" "36976478" "36976478" "subst" "0" "02325" "NIPBL_000429" "g.36976478G>A" "" "" "" "NIPBL(NM_133433.4):c.1469G>A (p.R490H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924335" "0" "30" "5" "36985980" "36985980" "subst" "0" "01804" "NIPBL_000430" "g.36985980T>A" "" "" "" "NIPBL(NM_015384.4):c.2698T>A (p.(Ser900Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924336" "0" "50" "5" "36986350" "36986350" "subst" "0" "01804" "NIPBL_000431" "g.36986350A>G" "" "" "" "NIPBL(NM_015384.4):c.3068A>G (p.(Lys1023Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933224" "0" "70" "5" "37059219" "37059219" "subst" "0" "00006" "NIPBL_000440" "g.37059219T>C" "" "{PMID:Yuan 2019:30158690}" "" "T7637C" "" "De novo" "" "" "0" "" "" "g.37059117T>C" "" "likely pathogenic (dominant)" "" "0000933225" "0" "70" "5" "37020764" "37020764" "dup" "0" "00006" "NIPBL_000438" "g.37020764dup" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37020662dup" "" "likely pathogenic (dominant)" "" "0000933226" "0" "70" "5" "36985431" "369854320" "del" "0" "00006" "NIPBL_000436" "g.36985431_369854320del" "" "{PMID:Yuan 2019:30158690}" "" "c.2147_2148del" "" "De novo" "" "" "0" "" "" "g.36985329_36985330del" "" "likely pathogenic (dominant)" "" "0000933227" "0" "70" "5" "36953863" "36953863" "subst" "0" "00006" "NIPBL_000094" "g.36953863G>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36953761G>A" "" "likely pathogenic (dominant)" "" "0000933228" "0" "70" "5" "36985090" "36985090" "del" "0" "00006" "NIPBL_000435" "g.36985090del" "" "{PMID:Yuan 2019:30158690}" "" "1801delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.36984988del" "" "likely pathogenic (dominant)" "" "0000933229" "0" "70" "5" "36995907" "36995910" "del" "0" "00006" "NIPBL_000437" "g.36995907_36995910del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.36995805_36995808del" "" "likely pathogenic (dominant)" "" "0000933230" "0" "70" "5" "36971139" "36971139" "subst" "0" "00006" "NIPBL_000433" "g.36971139G>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.36971037G>A" "" "likely pathogenic (dominant)" "" "0000933231" "0" "70" "5" "36953859" "36953859" "subst" "0" "00006" "NIPBL_000432" "g.36953859T>G" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.36953757T>G" "" "likely pathogenic (dominant)" "" "0000933232" "0" "70" "5" "37008725" "37008725" "subst" "0" "00006" "NIPBL_000220" "g.37008725G>T" "" "{PMID:Yuan 2019:30158690}" "" "G4321T" "" "De novo" "" "" "0" "" "" "g.37008623G>T" "" "likely pathogenic (dominant)" "" "0000933233" "0" "70" "5" "36975923" "36975923" "subst" "0" "00006" "NIPBL_000434" "g.36975923C>A" "" "{PMID:Yuan 2019:30158690}" "" "C914A" "" "De novo" "" "" "0" "" "" "g.36975821C>A" "" "likely pathogenic (dominant)" "" "0000933234" "0" "70" "5" "37063934" "37063971" "del" "0" "00006" "NIPBL_000441" "g.37063934_37063971del" "" "{PMID:Yuan 2019:30158690}" "" "c.7900_7937del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37063832_37063869del" "" "likely pathogenic (dominant)" "" "0000933235" "0" "70" "5" "37022255" "37022255" "subst" "0" "00006" "NIPBL_000439" "g.37022255A>G" "" "{PMID:Yuan 2019:30158690}" "" "" "variant not in mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.37022153A>G" "" "likely pathogenic (dominant)" "" "0000933248" "0" "90" "5" "36985761" "36985762" "del" "0" "00006" "NIPBL_000055" "g.36985761_36985762del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.36985659_36985660del" "" "pathogenic (dominant)" "" "0000933249" "0" "70" "5" "37017173" "37017173" "subst" "0" "00006" "NIPBL_000443" "g.37017173T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.37017071T>C" "" "likely pathogenic (dominant)" "" "0000933250" "0" "70" "5" "37046239" "37046239" "subst" "0" "00006" "NIPBL_000444" "g.37046239T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.37046137T>C" "" "likely pathogenic (dominant)" "" "0000933251" "0" "70" "5" "37052580" "37052580" "subst" "0" "00006" "NIPBL_000445" "g.37052580G>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.37052478G>A" "" "likely pathogenic (dominant)" "" "0000933252" "0" "90" "5" "36962223" "36962223" "subst" "0" "00006" "NIPBL_000442" "g.36962223A>G" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.36962121A>G" "" "pathogenic (dominant)" "" "0000936018" "0" "90" "5" "37061076" "37061076" "dup" "0" "00006" "NIPBL_000446" "g.37061076dup" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.37060974dup" "" "pathogenic (dominant)" "" "0000948551" "0" "90" "5" "36953808" "36953808" "dup" "0" "02325" "NIPBL_000447" "g.36953808dup" "" "" "" "NIPBL(NM_133433.4):c.10dupG (p.D4Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948552" "0" "50" "5" "37044542" "37044542" "subst" "0.00000406679" "02325" "NIPBL_000448" "g.37044542A>G" "" "" "" "NIPBL(NM_133433.4):c.6202A>G (p.T2068A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NIPBL ## Count = 520 "{{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}}" "0000079430" "00024041" "00" "4841" "0" "4841" "0" "c.4841G>C" "r.(?)" "p.(Gly1614Ala)" "" "0000165276" "00024041" "90" "771" "1" "771" "1" "c.771+1G>C" "r.(751_771del)" "p.(Val251_Asp257del)" "7i" "0000248871" "00024041" "10" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Asn674Ser)" "" "0000249071" "00024041" "10" "3575" "-17" "3575" "-17" "c.3575-17A>G" "r.(=)" "p.(=)" "" "0000249368" "00024041" "30" "4245" "0" "4245" "0" "c.4245A>C" "r.(?)" "p.(Ser1415=)" "" "0000296487" "00024041" "30" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.spl?" "p.?" "" "0000304172" "00024041" "30" "3897" "0" "3897" "0" "c.3897T>C" "r.(?)" "p.(Leu1299=)" "" "0000304173" "00024041" "30" "4317" "0" "4317" "0" "c.4317T>G" "r.(?)" "p.(Thr1439=)" "" "0000304174" "00024041" "10" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.spl?" "p.?" "" "0000304175" "00024041" "30" "7701" "0" "7701" "0" "c.7701C>T" "r.(?)" "p.(Tyr2567=)" "" "0000330311" "00024041" "50" "507" "0" "507" "0" "c.507G>T" "r.(?)" "p.(Gln169His)" "" "0000330312" "00024041" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Ile314Val)" "" "0000330313" "00024041" "30" "1495" "8" "1495" "10" "c.1495+8_1495+10del" "r.(=)" "p.(=)" "" "0000330317" "00024041" "50" "6727" "0" "6727" "0" "c.6727G>A" "r.(?)" "p.(Glu2243Lys)" "" "0000330318" "00024041" "50" "6954" "3" "6954" "3" "c.6954+3A>G" "r.spl?" "p.?" "" "0000330319" "00024041" "50" "7362" "0" "7362" "0" "c.7362C>G" "r.(?)" "p.(Asp2454Glu)" "" "0000337876" "00024041" "10" "3575" "-17" "3575" "-17" "c.3575-17A>G" "r.(=)" "p.(=)" "" "0000337877" "00024041" "70" "3575" "-2" "3575" "-2" "c.3575-2A>G" "r.spl?" "p.?" "" "0000339927" "00024041" "10" "5874" "0" "5874" "0" "c.5874C>T" "r.(?)" "p.(Ser1958=)" "" "0000341293" "00024041" "90" "7168" "0" "7168" "0" "c.7168G>A" "r.(?)" "p.(Ala2390Thr)" "" "0000343291" "00024041" "50" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710Gln)" "" "0000343814" "00024041" "10" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Asn674Ser)" "" "0000344125" "00024041" "50" "1522" "0" "1522" "0" "c.1522G>C" "r.(?)" "p.(Asp508His)" "" "0000348905" "00024041" "30" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ser280Phe)" "" "0000350751" "00024041" "70" "5329" "-15" "5329" "-15" "c.5329-15A>G" "r.(=)" "p.(=)" "" "0000351138" "00024041" "90" "4087" "1" "4087" "1" "c.4087+1G>T" "r.spl?" "p.?" "" "0000351141" "00024041" "70" "7062" "3" "7062" "3" "c.7062+3A>T" "r.spl?" "p.?" "" "0000403965" "00024041" "90" "65" "-5" "65" "-5" "c.65-5A>G" "r.spl?" "p.?" "2i" "0000403966" "00024041" "90" "1445" "0" "1448" "0" "c.1445_1448del" "r.(?)" "p.(Arg482Asnfs*20)" "9" "0000403967" "00024041" "90" "2270" "0" "2270" "0" "c.2270del" "r.(?)" "p.(Thr757Asnfs*37)" "10" "0000403968" "00024041" "90" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808*)" "10" "0000403969" "00024041" "70" "3574" "0" "3574" "0" "c.3574G>A" "r.spl?" "p.(Glu1192Lys)" "13" "0000403970" "00024041" "90" "4422" "-1" "4422" "-1" "c.4422-1G>A" "r.spl" "p.?" "20i" "0000403971" "00024041" "90" "5594" "0" "5594" "0" "c.5594G>C" "r.(?)" "p.(Arg1865Thr)" "30" "0000403972" "00024041" "90" "6653" "0" "6655" "0" "c.6653_6655del" "r.(?)" "p.(Asn2218del)" "39" "0000403973" "00024041" "90" "7168" "0" "7168" "0" "c.7168G>A" "r.(?)" "p.(Ala2390Thr)" "42" "0000403974" "00024041" "90" "7833" "0" "7834" "0" "c.7833_7834dup" "r.(?)" "p.(Arg2612Lysfs*4)" "45" "0000403975" "00024041" "90" "8364" "0" "8364" "0" "c.8364del" "r.(?)" "p.(Val2789Phefs*36)" "47" "0000403976" "00024041" "90" "8377" "0" "8377" "0" "c.8377C>T" "r.(?)" "p.(Arg2793*)" "47" "0000403977" "00024041" "90" "8377" "0" "8377" "0" "c.8377C>T" "r.(?)" "p.(Arg2793*)" "47" "0000403978" "00024041" "90" "6167" "0" "6167" "0" "c.6167C>T" "r.(?)" "p.(Pro2056Leu)" "35" "0000403979" "00024041" "90" "7469" "0" "7469" "0" "c.7469C>G" "r.(?)" "p.(Ser2490*)" "44" "0000403980" "00024041" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "2" "0000403981" "00024041" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "2" "0000403982" "00024041" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "2" "0000403983" "00024041" "90" "150" "0" "150" "0" "c.150del" "r.(?)" "p.(Asn51Thrfs*27)" "3" "0000403984" "00024041" "90" "347" "0" "347" "0" "c.347dup" "r.(?)" "p.(Tyr116*)" "4" "0000403985" "00024041" "90" "1547" "0" "1547" "0" "c.1547dup" "r.(?)" "p.(Ala517Cysfs*5)" "10" "0000403986" "00024041" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Arg832*)" "10" "0000403987" "00024041" "90" "2520" "0" "2520" "0" "c.2520del" "r.(?)" "p.(Arg841Glufs*6)" "10" "0000403988" "00024041" "90" "3024" "0" "3028" "0" "c.3024_3028del" "r.(?)" "p.(Ser1009Glyfs*2)" "10" "0000403989" "00024041" "90" "3616" "0" "3618" "0" "c.3616_3618del" "r.(?)" "p.(Ile1206del)" "14" "0000403990" "00024041" "90" "3931" "0" "3931" "0" "c.3931T>C" "r.(?)" "p.(Cys1311Arg)" "17" "0000403991" "00024041" "90" "4043" "0" "4043" "0" "c.4043T>G" "r.(?)" "p.(Leu1348Arg)" "17" "0000403992" "00024041" "90" "4320" "2" "4320" "2" "c.4320+2T>A" "r.4240_4320del" "p.(Ser1415_Val1441del)" "19i" "0000403993" "00024041" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523*)" "22" "0000403994" "00024041" "90" "4593" "0" "4593" "0" "c.4593T>A" "r.(?)" "p.(Tyr1531*)" "22" "0000403995" "00024041" "90" "5575" "-2" "5575" "-2" "c.5575-2A>G" "r.spl" "p.?" "29i" "0000403996" "00024041" "90" "6250" "0" "6255" "0" "c.6250_6255del" "r.6250_6255delGTAGTG" "p.(Val2084_Val2085del)" "36" "0000403997" "00024041" "90" "6436" "0" "6436" "0" "c.6436A>C" "r.(?)" "p.(Thr2146Pro)" "37" "0000403998" "00024041" "90" "6763" "5" "6763" "5" "c.6763+5G>T" "r.spl?" "p.?" "39i" "0000403999" "00024041" "90" "6763" "5" "6763" "5" "c.6763+5G>T" "r.spl?" "p.?" "39i" "0000404000" "00024041" "90" "7289" "0" "7289" "0" "c.7289A>G" "r.(?)" "p.(Tyr2430Cys)" "43" "0000404001" "00024041" "90" "7306" "0" "7306" "0" "c.7306dup" "r.(?)" "p.(Ala2436Glyfs*27)" "43" "0000404002" "00024041" "90" "7306" "0" "7306" "0" "c.7306G>A" "r.(?)" "p.(Ala2436Thr)" "43" "0000404003" "00024041" "90" "7686" "-2" "7686" "-2" "c.7686-2A>G" "r.spl" "p.?" "44i" "0000404004" "00024041" "90" "7903" "0" "7903" "0" "c.7903G>T" "r.(?)" "p.(Glu2635*)" "46" "0000404005" "00024041" "90" "7298" "0" "7298" "0" "c.7298A>G" "r.(?)" "p.(Asp2433Gly)" "43" "0000404006" "00024041" "90" "7298" "0" "7298" "0" "c.7298A>G" "r.(?)" "p.(Asp2433Gly)" "43" "0000404007" "00024041" "90" "65" "-5" "65" "-5" "c.65-5A>G" "r.spl?" "p.?" "2i" "0000404008" "00024041" "90" "199" "0" "208" "0" "c.199_208delinsATCAACAGGTGAC" "r.(?)" "p.(His67Ilefs*4)" "3" "0000404009" "00024041" "90" "611" "-2" "611" "-2" "c.611-2A>G" "r.spl" "p.?" "6i" "0000404010" "00024041" "90" "742" "0" "743" "0" "c.742_743del" "r.(?)" "p.(Leu248Thrfs*8)" "7" "0000404011" "00024041" "90" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Arg321Glufs*9)" "9" "0000404012" "00024041" "90" "1435" "0" "1435" "0" "c.(1435C>T)" "r.(?)" "p.(Arg479*)" "9" "0000404013" "00024041" "90" "1547" "0" "1547" "0" "c.1547dup" "r.(?)" "p.(Ala517Cysfs*5)" "10" "0000404014" "00024041" "90" "1669" "0" "1670" "0" "c.1669_1670insC" "r.(?)" "p.(Ile557Thrfs*12)" "10" "0000404015" "00024041" "90" "1902" "0" "1902" "0" "c.1902dup" "r.(?)" "p.(Ser635Ilefs*3)" "10" "0000404016" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000404017" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000404018" "00024041" "90" "2520" "0" "2520" "0" "c.2520del" "r.(?)" "p.(Arg841Glufs*6)" "10" "0000404019" "00024041" "90" "2969" "0" "2969" "0" "c.2969del" "r.(?)" "p.(Gly990Aspfs*2)" "10" "0000404020" "00024041" "90" "3024" "0" "3028" "0" "c.3024_3028del" "r.(?)" "p.(Ser1009Glyfs*2)" "10" "0000404021" "00024041" "90" "3057" "0" "3060" "0" "c.3057_3060del" "r.(?)" "p.(Asp1019Glufs*24)" "10" "0000404022" "00024041" "90" "3060" "0" "3063" "0" "c.3060_3063del" "r.(?)" "p.(Glu1021Thrfs*22)" "10" "0000404023" "00024041" "90" "2389" "0" "2389" "0" "c.(2389C>T)" "r.(?)" "p.(Arg797*)" "10" "0000404024" "00024041" "90" "2494" "0" "2494" "0" "c.(2494C>T)" "r.(?)" "p.(Arg832*)" "10" "0000404025" "00024041" "90" "2929" "0" "2929" "0" "c.(2929G>T)" "r.(?)" "p.(Glu977*)" "10" "0000404026" "00024041" "90" "0" "0" "0" "0" "c.(3071C>?)" "r.(?)" "p.(Ser1024*)" "10" "0000404027" "00024041" "90" "3737" "0" "3737" "0" "c.3737C>G" "r.(?)" "p.(Ala1246Gly)" "15" "0000404028" "00024041" "90" "3969" "0" "3969" "0" "c.3969dup" "r.(?)" "p.(Pro1324Alafs*7)" "17" "0000404029" "00024041" "90" "3935" "0" "3935" "0" "c.3935T>C" "r.(?)" "p.(Leu1312Pro)" "17" "0000404030" "00024041" "90" "0" "0" "0" "0" "c.(4193C>?)" "r.(?)" "p.(Ser1398*)" "18" "0000404031" "00024041" "90" "4376" "0" "4376" "0" "c.4376C>A?" "r.(?)" "p.(Ser1459*)" "20" "0000404032" "00024041" "90" "4556" "0" "4560" "0" "c.4556_4560del" "r.(?)" "p.(Lys1519Asnfs*2)" "21" "0000404033" "00024041" "90" "4606" "0" "4606" "0" "c.(4606C>T)" "r.(?)" "p.(Arg1536*)" "22" "0000404034" "00024041" "90" "4606" "0" "4606" "0" "c.(4606C>T)" "r.(?)" "p.(Arg1536*)" "22" "0000404035" "00024041" "90" "4606" "0" "4606" "0" "c.(4606C>T)" "r.(?)" 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"p.(His2292Serfs*48)" "40" "0000404097" "00024041" "90" "7096" "0" "7096" "0" "c.7096C>T" "r.(?)" "p.(Gln2366*)" "42" "0000404098" "00024041" "90" "7439" "0" "7440" "0" "c.7439_7440del" "r.(?)" "p.(Arg2480Lysfs*5)" "44" "0000404099" "00024041" "90" "7559" "0" "7559" "0" "c.7559del" "r.(?)" "p.(Asn2520Ilefs*3)" "44" "0000404100" "00024041" "90" "7950" "0" "7950" "0" "c.7950dup" "r.(?)" "p.(Thr2651Tyrfs*10)" "46" "0000404101" "00024041" "90" "86" "0" "86" "0" "c.86C>A" "r.(?)" "p.(Pro29Gln)" "3" "0000404102" "00024041" "90" "610" "5" "610" "5" "c.610+5G>C" "r.spl?" "p.?" "6i" "0000404103" "00024041" "90" "611" "-6" "611" "-6" "c.611-6T>C" "r.spl?" "p.(=)" "6i" "0000404104" "00024041" "90" "611" "-6" "611" "-6" "c.611-6T>C" "r.spl?" "p.(=)" "6i" "0000404105" "00024041" "90" "1513" "0" "1513" "0" "c.1513dup" "r.(?)" "p.(Arg505Lysfs*17)" "10" "0000404106" "00024041" "90" "1784" "0" "1784" "0" "c.1784del" "r.(?)" "p.(Asn595Thrfs*19)" "10" "0000404107" "00024041" "90" "2324" "0" "2324" "0" "c.2324A>G" "r.(?)" "p.(Lys775Arg)" "10" "0000404108" "00024041" "90" "2341" "0" "2341" "0" "c.2341A>T" "r.(?)" "p.(Lys781*)" "10" "0000404109" "00024041" "90" "2358" "0" "2379" "0" "c.2358_2379dup" "r.(?)" "p.(Lys794*)" "10" "0000404110" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000404111" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000404112" "00024041" "90" "2500" "0" "2500" "0" "c.(2500C>T)" "r.(?)" "p.(Arg834*)" "10" "0000404113" "00024041" "90" "2587" "0" "2587" "0" "c.2587dup" "r.(?)" "p.(Thr863Asnfs*2)" "10" "0000404114" "00024041" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(Asn924Thrfs*5)" "10" "0000404115" "00024041" "90" "3047" "0" "3048" "0" "c.3047_3048del" "r.(?)" "p.(Leu1016Hisfs*2)" "10" "0000404116" "00024041" "90" "3060" "0" "3063" "0" "c.3060_3063del" "r.(?)" "p.(Glu1021Thrfs*22)" "10" "0000404117" "00024041" "90" "3367" "0" "3367" "0" "c.3367del" "r.(?)" "p.(Arg1123Glufs*50)" "12" "0000404118" "00024041" "90" "5427" "0" "5427" "0" "c.5427G>T" "r.spl?" "p.(Arg1809Ser)" "28" "0000404119" "00024041" "90" "5808" "5" "5808" "5" "c.5808+5G>C" "r.spl?" "p.?" "31i" "0000404120" "00024041" "90" "6156" "0" "6156" "0" "c.6156G>C" "r.(?)" "p.(Glu2052Asp)" "35" "0000404121" "00024041" "90" "6893" "0" "6893" "0" "c.6893G>A" "r.(?)" "p.(Arg2298His)" "40" "0000404122" "00024041" "90" "7649" "0" "7649" "0" "c.7649A>T" "r.(?)" "p.(Lys2550Ile)" "44" "0000404123" "00024041" "90" "7849" "0" "7849" "0" "c.7849C>T" "r.(?)" "p.(Gln2617*)" "45" "0000404124" "00024041" "90" "8137" "0" "8137" "0" "c.8137dup" "r.(?)" "p.(Ile2713Asnfs*38)" "47" "0000404125" "00024041" "90" "7878" "0" "7878" "0" "c.7878dup" "r.(?)" "p.(His2627Thrfs*5)" "46" "0000404126" "00024041" "90" "7410" "4" "7410" "4" "c.7410+4A>G" "r.spl?" "p.?" 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"p.(Cys1549*)" "10i_22i" "0000404159" "00024041" "90" "6763" "5" "6763" "5" "c.6763+5G>C" "r.spl?" "p.?" "39i" "0000404160" "00024041" "90" "6763" "5" "6763" "5" "c.6763+5G>T" "r.spl?" "p.?" "39i" "0000404161" "00024041" "90" "4766" "0" "4767" "0" "c.4766_4767delinsTTTGTTAGGTAAGAGA" "r.(?)" "p.(Gly1589Valfs*3)" "23" "0000404162" "00024041" "90" "2479" "0" "2479" "0" "c.2479del" "r.(?)" "p.(Arg827Glyfs*20)" "10" "0000404163" "00024041" "90" "3768" "3" "3768" "3" "c.3768+3A>T" "r.spl?" "p.?" "15i" "0000404164" "00024041" "70" "6697" "0" "6697" "0" "c.6697G>A" "r.(?)" "p.(Val2233Met)" "39" "0000404165" "00024041" "90" "513" "0" "513" "0" "c.513dup" "r.(?)" "p.(Ser172*)" "6" "0000404166" "00024041" "70" "6697" "0" "6697" "0" "c.6697G>A" "r.(?)" "p.(Val2233Met)" "39" "0000404167" "00024041" "90" "7819" "0" "7819" "0" "c.7819dup" "r.(?)" "p.(Thr2607Asnfs*25)" "45" "0000404168" "00024041" "90" "2116" "0" "2117" "0" "c.2116_2117dup" "r.(?)" "p.(Gly707Argfs*88)" "10" "0000404169" "00024041" "90" "4293" "0" "4293" "0" "c.4293del" "r.(?)" "p.(Gln1431Hisfs*7)" "19" "0000404170" "00024041" "90" "4013" "0" "4013" "0" "c.4013A>G" "r.(?)" "p.(Gln1338Arg)" "17" "0000404171" "00024041" "90" "4422" "0" "4422" "0" "c.4422G>T" "r.spl?" "p.(Arg1474Ser)" "21" "0000404172" "00024041" "90" "2007" "0" "2007" "0" "c.2007del" "r.(?)" "p.(Glu670Serfs*124)" "10" "0000404173" "00024041" "90" "6893" "0" "6893" "0" "c.6893G>A" "r.(?)" "p.(Arg2298His)" "40" "0000404174" "00024041" "90" "3117" "0" "3120" "0" "c.3117_3120del" "r.(?)" "p.(Asn1039Lysfs*4)" "10" "0000404175" "00024041" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45*)" "3" "0000404176" "00024041" "70" "7299" "0" "7301" "0" "c.7299_7301dup" "r.(?)" "p.(Asn2434dup)" "43" "0000404177" "00024041" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "8" "0000404178" "00024041" "90" "7340" "0" "7340" "0" "c.7340T>A" "r.(?)" 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"p.(Tyr1184His)" "13" "0000404189" "00024041" "70" "8301" "0" "8301" "0" "c.8301del" "r.(?)" "p.(Glu2768Serfs*11)" "47" "0000404190" "00024041" "90" "998" "0" "998" "0" "c.998del" "r.(?)" "p.(Lys333Argfs*15)" "9" "0000404191" "00024041" "90" "6589" "5" "6589" "5" "c.6589+5G>A" "r.spl?" "p.?" "38i" "0000404192" "00024041" "90" "1275" "0" "1278" "0" "c.1275_1278del" "r.(?)" "p.(Thr426Hisfs*54)" "9" "0000404193" "00024041" "70" "5693" "0" "5693" "0" "c.5693A>G" "r.(?)" "p.(Asp1898Gly)" "30" "0000404194" "00024041" "90" "5051" "0" "5052" "0" "c.5051_5052del" "r.(?)" "p.Thr1684Asnfs*14" "26" "0000404195" "00024041" "10" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.(?)" "p.(?)" "34i" "0000404196" "00024041" "70" "5471" "0" "5471" "0" "c.5471C>T" "r.(?)" "p.(Ser1824Leu)" "29" "0000404197" "00024041" "70" "4202" "0" "4202" "0" "c.4202T>G" "r.(?)" "p.(Leu1401Arg)" "18" "0000404198" "00024041" "90" "1845" "0" "1846" "0" "c.1845_1846del" "r.(?)" "p.(Ser616*)" "10" "0000404199" "00024041" "70" "358" "3" "358" "3" "c.358+3G>T" "r.spl?" "p.?" "4i" "0000404200" "00024041" "70" "3751" "0" "3753" "0" "c.3751_3753del" "r.(?)" "p.(Met1251del)" "15" "0000404201" "00024041" "90" "65" "-5" "65" "-5" "c.65-5A>G" "r.spl?" "p.?" "2i" "0000404202" "00024041" "70" "7306" "0" "7306" "0" "c.7306G>A" "r.(?)" "p.(Ala2436Thr)" "43" "0000404203" "00024041" "90" "2291" "0" "2292" "0" "c.2291_2292insC" "r.(?)" "p.(Arg765*)" "10" "0000404204" "00024041" "90" "7788" "0" "7792" "0" "c.7788_7792del" "r.(?)" "p.(Phe2596Leufs*3)" "45" "0000404205" "00024041" "90" "3117" "0" "3120" "0" "c.3117_3120del" "r.(?)" "p.(Asn1039Lysfs*4)" "10" "0000404206" "00024041" "90" "5808" "1" "5808" "1" "c.5808+1G>A" "r.spl" "p.?" "31i" "0000404207" "00024041" "90" "889" "0" "889" "0" "c.889dup" "r.(?)" "p.(Leu297Profs*39)" "9" "0000404208" "00024041" "90" "1774" "0" "1787" "0" "c.1774_1787del" "r.(?)" "p.(Thr592Serfs*2)" "10" "0000404209" "00024041" "90" "3304" "1" "3304" "1" "c.3304+1G>T" "r.spl" "p.?" "11i" "0000404210" "00024041" "90" "2611" "0" "2611" "0" "c.2611del" "r.(?)" "p.(Arg871Glyfs*58)" "10" "0000404211" "00024041" "90" "5412" "0" "5412" "0" "c.5412dup" "r.(?)" "p.(Ser1805Glnfs*7)" "28" "0000404212" "00024041" "90" "6803" "0" "6803" "0" "c.6803del" "r.(?)" "p.(Gly2268Valfs*7)" "40" "0000404213" "00024041" "10" "4561" "-9" "4561" "-9" "c.4561-9T>A" "r.(?)" "p.(?)" "21i" "0000404214" "00024041" "10" "4422" "-12" "4422" "-12" "c.4422-12del" "r.(?)" "p.(=)" "20i" "0000404215" "00024041" "90" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106*)" "12" "0000404216" "00024041" "90" "64" "1" "64" "1" "c.64+1G>A" "r.spl" "p.?" "2i" "0000404217" "00024041" "10" "1495" "8" "1495" "10" "c.1495+8_1495+10del" "r.(?)" "p.(?)" "9i" "0000404218" "00024041" "90" "7439" "0" "7440" "0" "c.7439_7440del" "r.(?)" "p.(Arg2480Lysfs*5)" "44" "0000404219" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000404220" "00024041" "90" "4321" "0" "4321" "0" "c.4321G>T" "r.[4321_4421del, 4321g>t]" "p.(Phe1442Lysfs*3, Val1441Leu)" "20" "0000404221" "00024041" "90" "6242" "0" "6242" "0" "c.6242G>C" "r.(?)" "p.(Gly2081Ala)" "35" "0000404222" "00024041" "90" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Gln716*)" "10" "0000404223" "00024041" "90" "230" "1" "230" "1" "c.230+1G>A" "r.65_230del" "p.(Leu22Glnfs*3)" "3i" "0000404224" "00024041" "90" "6449" "0" "6449" "0" "c.6449T>C" "r.(?)" "p.(Leu2150Pro)" "37" "0000404225" "00024041" "90" "5689" "0" "5691" "0" "c.5689_5691del" "r.(?)" "p.(Asn1897del)" "30" "0000404226" "00024041" "90" "6880" "0" "6880" "0" "c.6880C>T" "r.(?)" "p.(Gln2294*)" "40" "0000404227" "00024041" "90" "4320" "5" "4320" "5" "c.4320+5G>C" "r.4240_4320del" "p.(1415_1441del)" "19i" "0000404228" "00024041" "90" "6269" "0" "6269" "0" "c.6269G>T" "r.(?)" "p.(Ser2090Ile)" "36" "0000404229" "00024041" "90" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "2" "0000404230" "00024041" "90" "86" "0" "86" "0" "c.86C>A" "r.(?)" "p.(Pro29Gln)" "3" "0000404231" "00024041" "90" "332" "0" "332" "0" "c.332G>C" "r.(?)" "p.(Ser111Thr)" "4" "0000404232" "00024041" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "6" "0000404233" "00024041" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "6" "0000404234" "00024041" "90" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Asp246Gly)" "7" "0000404235" "00024041" "90" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Leu254Val)" "7" "0000404236" "00024041" "90" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.(Ser262Ala)" "8" "0000404237" "00024041" "90" "7307" "0" "7307" "0" "c.7307C>T" "r.(?)" "p.(Ala2436Val)" "43" "0000404238" "00024041" "90" "6108" "2264" "47093" "0" "c.6108+2264_*38678delinsTTCATATCTTAAAGA" "r.(?)" "p.(?)" "34i_47_" "0000404239" "00024041" "90" "2827" "0" "2827" "0" "c.2827del" "r.(?)" "p.(Ser943Valfs*11)" "10" "0000404240" "00024041" "90" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842*)" "29" "0000404241" "00024041" "90" "4422" "0" "4422" "0" "c.4422G>T" "r.spl?" "p.(Arg1474Ser)" "21" "0000404242" "00024041" "90" "8176" "0" "8176" "0" "c.8176A>G" "r.(?)" "p.(Arg2726Gly)" "47" "0000404243" "00024041" "90" "868" "1" "868" "1" "c.868+1G>A" "r.spl" "p.?" "8i" "0000404244" "00024041" "90" "5366" "0" "5366" "0" "c.5366G>A" "r.(?)" "p.(Arg1789Gln)" "28" "0000404245" "00024041" "70" "6706" "0" "6706" "0" "c.6706A>T" "r.(?)" "p.(Asn2236Tyr)" "39" "0000404246" "00024041" "30" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Asp86Asn)" "4" "0000404247" "00024041" "90" "7168" "0" "7168" "0" "c.7168G>A" "r.(?)" "p.(Ala2390Thr)" "42" "0000404248" "00024041" "90" "7168" "0" "7168" "0" "c.7168G>A" "r.(?)" "p.(Ala2390Thr)" "42" "0000404249" "00024041" "90" "4237" "0" "4237" "0" "c.4237C>T" "r.(?)" "p.(Gln1413*)" "18" "0000404250" "00024041" "90" "4376" "0" "4376" "0" "c.4376C>A?" "r.(?)" "p.(Ser1459*)" "20" "0000404251" "00024041" "90" "5567" "0" "5567" "0" "c.5567G>C" "r.(?)" "p.(Arg1856Thr)" "29" "0000404252" "00024041" "90" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Arg2298Cys)" "40" "0000404253" "00024041" "90" "6893" "0" "6893" "0" "c.6893G>A" "r.(?)" "p.(Arg2298His)" "40" "0000404254" "00024041" "90" "7142" "0" "7142" "0" "c.7142G>C" "r.(?)" "p.(Gly2381Ala)" "42" "0000404255" "00024041" "90" "5574" "1" "5574" "1" "c.5574+1G>T" "r.spl" "p.?" "29i" "0000404256" "00024041" "90" "611" "-2" "611" "-2" "c.611-2A>G" "r.spl" "p.?" "6i" "0000404257" "00024041" "90" "3024" "0" "3028" "0" "c.3024_3028del" "r.(?)" "p.(Ser1009Glyfs*2)" "10" "0000404258" "00024041" "90" "2969" "0" "2969" "0" "c.2969del" "r.(?)" "p.(Gly990Aspfs*2)" "10" "0000404259" "00024041" "90" "7210" "0" "7210" "0" "c.7210del" "r.(?)" "p.(Gln2404Asnfs*22)" "42" "0000404260" "00024041" "90" "13" "0" "14" "0" "c.13_14dup" "r.(?)" "p.(Met5Ilefs*20)" "2" "0000404261" "00024041" "90" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842*)" "29" "0000404262" "00024041" "90" "5524" "0" "5524" "0" "c.5524C>T" "r.(?)" "p.(Arg1842*)" "29" "0000404263" "00024041" "90" "6108" "2" "6108" "2" "c.6108+2T>C" "r.spl" "p.?" "34i" "0000404264" "00024041" "90" "4028" "0" "4028" "0" "c.4028A>C" "r.(?)" "p.(His1343Pro)" "17" "0000404265" "00024041" "30" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ser72Leu)" "3" "0000404266" "00024041" "90" "3316" "0" "3316" "0" "c.3316C>T" "r.(?)" "p.(Arg1106*)" "12" "0000404267" "00024041" "90" "7062" "1" "7062" "1" "c.7062+1G>A" "r.spl" "p.?" "41i" "0000404268" "00024041" "90" "7335" "0" "7335" "0" "c.7335del" "r.(?)" "p.(Glu2445Aspfs*5)" "43" "0000404269" "00024041" "70" "8003" "0" "8003" "0" "c.8003A>G" "r.(?)" "p.(Glu2668Gly)" "46" "0000404270" "00024041" "90" "5482" "0" "5482" "0" "c.5482C>T" "r.(?)" "p.(Arg1828*)" "29" "0000404271" "00024041" "90" "1011" "0" "1011" "0" "c.1011del" "r.(?)" "p.(Glu337Aspfs*11)" "9" "0000404272" "00024041" "70" "459" "-9" "459" "-9" "c.459-9G>A" "r.spl?" "p.(=)" "5i" "0000404273" "00024041" "90" "5366" "0" "5366" "0" "c.5366G>A" "r.(?)" "p.(Arg1789Gln)" "28" "0000404274" "00024041" "90" "7178" "0" "7178" "0" "c.7178C>G" "r.(?)" "p.(Ser2393*)" "42" "0000404275" "00024041" "90" "1547" "0" "1547" "0" "c.1547del" "r.(?)" "p.(Gly516Valfs*24)" "10" "0000404276" "00024041" "90" "5575" "-2" "5575" "-2" "c.5575-2del" "r.5575_5709del" "p.Asp1859_Lys1903del" "29i" "0000404277" "00024041" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "10" "0000404278" "00024041" "70" "6983" "0" "6983" "0" "c.6983C>G" "r.(?)" "p.(Thr2328Arg)" "41" "0000404279" "00024041" "90" "0" "0" "0" "0" "c.(5710-?)_(*927_?)del" "r.(?)" "p.(?)" "30i_47_" "0000404280" "00024041" "70" "5471" "0" "5471" "0" "c.5471C>T" "r.(?)" "p.(Ser1824Leu)" "29" "0000404281" "00024041" "90" "-481" "0" "9342" "0" "c.(?_-481)_(*927_?)del" "r.(?)" "p.0?" "_1_47_" "0000404282" "00024041" "90" "86" "0" "86" "0" "c.86del" "r.(?)" "p.(Pro29Hisfs*18)" "3" "0000404283" "00024041" "70" "6278" "0" "6278" "0" "c.6278G>T" "r.(?)" "p.(Gly2093Val)" "36" "0000404284" "00024041" "70" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(Gln64*)" "3" "0000404285" "00024041" "70" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808*)" "10" "0000404286" "00024041" "50" "5808" "1" "5808" "1" "c.5808+1G>A" "r.spl" "p.?" "31i" "0000404287" "00024041" "70" "6467" "0" "6467" "0" "c.6467T>G" "r.(?)" "p.(Phe2156Cys)" "37" "0000404288" "00024041" "50" "4421" "4" "4421" "4" "c.4421+4A>G" "r.spl?" "p.?" "20i" "0000404289" "00024041" "90" "6647" "0" "6647" "0" "c.6647A>C" "r.(?)" "p.(Tyr2216Ser)" "39" "0000404309" "00024041" "90" "4094" "0" "4094" "0" "c.4094T>A" "r.(?)" "p.(Leu1365*)" "18" "0000404310" "00024041" "90" "4751" "0" "4751" "0" "c.4751T>G" "r.(?)" "p.(Leu1584Arg)" "23" "0000404311" "00024041" "90" "5328" "1" "5328" "1" "c.5328+1G>C" "r.5226_5328del" "p.(Met1743Serfs*17)" "27i" "0000404320" "00024041" "70" "358" "1" "358" "1" "c.358+1G>A" "r.231_358del" "p.(Ile77Metfs*5)" "4i" "0000404321" "00024041" "70" "358" "1" "358" "1" "c.358+1G>A" "r.231_358del" "p.(Ile77Metfs*5)" "4i" "0000404322" "00024041" "70" "869" "-2" "869" "-2" "c.869-2A>G" "r.869_1495del" "p.(Gly290_Lys498del)" "8i" "0000404323" "00024041" "70" "869" "-2" "869" "-2" "c.869-2A>G" "r.869_1495del" "p.(Gly290_Lys498del)" "8i" "0000404324" "00024041" "70" "3856" "-5" "3856" "-5" "c.3856-5del" "r.spl" "p.(Asn1286Glufs*3)" "16i" "0000404325" "00024041" "70" "4320" "4" "4320" "4" "c.4320+4A>G" "r.4320_4321ins4320+1_4320+4" "p.(Phe1442Serfs*5)" "19i" "0000404326" "00024041" "70" "5328" "1" "5328" "1" "c.5328+1G>A" "r.5226_5328del" "p.(Met1743Serfs*16)" "27i" "0000404327" "00024041" "70" "5329" "-6" "5329" "-6" "c.5329-6T>G" "r.5329_5427del" "p.(Ile1777_Arg1809del)" "27i" "0000404328" "00024041" "70" "5329" "-6" "5329" "-6" "c.5329-6T>G" "r.5329_5427del" "p.(Ile1777_Arg1809del)" "27i" "0000404329" "00024041" "70" "5575" "-1" "5575" "-1" "c.5575-1G>A" "r.5575del" "p.(Asp1859Ilefs*9)" "28i" "0000404330" "00024041" "10" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.=" "p.=" "34i" "0000404331" "00024041" "70" "7860" "5" "7860" "5" "c.7860+5G>A" "r.7828_7860del" "p.(Val2610_Asp2620del)" "45i" "0000404332" "00024041" "50" "4399" "0" "4399" "0" "c.4399A>T" "r.(?)" "p.(Lys1467*)" "20" "0000404333" "00024041" "50" "5483" "0" "5483" "0" "c.5483G>A" "r.(?)" "p.(Arg1828Gln)" "29" "0000404880" "00024041" "30" "332" "0" "332" "0" "c.332G>C" "r.(?)" "p.Ser111Thr" "4" "0000404881" "00024041" "30" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.Asp246Gly" "7" "0000404882" "00024041" "30" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.Leu254Val" "7" "0000404883" "00024041" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.Ala179Thr" "6" "0000404884" "00024041" "30" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.Ser262Ala" "8" "0000404885" "00024041" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.Pro192Leu" "6" "0000404886" "00024041" "90" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.Gly15Arg" "2" "0000404887" "00024041" "90" "86" "0" "86" "0" "c.86C>A" "r.(?)" "p.Pro29Gln" "3" "0000408750" "00024041" "90" "5689" "0" "5691" "0" "c.5689_5691del" "r.(?)" "p.(Asn1897del)" "30" "0000446869" "00024041" "50" "3009" "0" "3011" "0" "c.3009_3011del" "r.(?)" "p.(Val1004del)" "" "0000525569" "00024041" "50" "313" "0" "313" "0" "c.313A>G" "r.(?)" "p.(Asn105Asp)" "" "0000525571" "00024041" "30" "834" "0" "834" "0" "c.834A>G" "r.(?)" "p.(Val278=)" "" "0000525572" "00024041" "30" "1495" "8" "1495" "10" "c.1495+8_1495+10del" "r.(=)" "p.(=)" "" "0000525573" "00024041" "50" "1579" "0" "1579" "0" "c.1579G>C" "r.(?)" "p.(Glu527Gln)" "" "0000525574" "00024041" "10" "1965" "0" "1965" "0" "c.1965G>T" "r.(?)" "p.(Glu655Asp)" "" "0000525575" "00024041" "30" "2256" "0" "2256" "0" "c.2256A>G" "r.(?)" "p.(Glu752=)" "" "0000525576" "00024041" "30" "2349" "0" "2349" "0" "c.2349A>G" "r.(?)" "p.(Lys783=)" "" "0000525577" "00024041" "30" "2407" "0" "2407" "0" "c.2407C>G" "r.(?)" "p.(Gln803Glu)" "" "0000525578" "00024041" "50" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Arg841Gln)" "" "0000525579" "00024041" "50" "2603" "0" "2603" "0" "c.2603G>A" "r.(?)" "p.(Arg868Gln)" "" "0000525581" "00024041" "50" "3452" "0" "3452" "0" "c.3452C>A" "r.(?)" "p.(Pro1151Gln)" "" "0000525582" "00024041" "10" "4421" "7" "4421" "7" "c.4421+7A>G" "r.(=)" "p.(=)" "" "0000525583" "00024041" "90" "5038" "0" "5038" "0" "c.5038T>C" "r.(?)" "p.(Trp1680Arg)" "" "0000525584" "00024041" "90" "5044" "0" "5044" "0" "c.5044C>T" "r.(?)" "p.(Arg1682Ter)" "" "0000525585" "00024041" "50" "5245" "0" "5245" "0" "c.5245G>A" "r.(?)" "p.(Asp1749Asn)" "" "0000525586" "00024041" "90" "5335" "0" "5335" "0" "c.5335C>T" "r.(?)" "p.(Arg1779Ter)" "" "0000525587" "00024041" "30" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.spl?" "p.?" "" "0000525588" "00024041" "30" "6954" "3" "6954" "3" "c.6954+3A>G" "r.spl?" "p.?" "" "0000525589" "00024041" "70" "7334" "0" "7334" "0" "c.7334A>C" "r.(?)" "p.(Glu2445Ala)" "" "0000525590" "00024041" "30" "7595" "0" "7595" "0" "c.7595C>T" "r.(?)" "p.(Pro2532Leu)" "" "0000525591" "00024041" "50" "7685" "5" "7685" "5" "c.7685+5G>C" "r.spl?" "p.?" "" "0000525592" "00024041" "50" "7807" "0" "7807" "0" "c.7807A>T" "r.(?)" "p.(Asn2603Tyr)" "" "0000525594" "00024041" "30" "7830" "0" "7830" "0" "c.7830G>C" "r.(?)" "p.(Val2610=)" "" "0000525595" "00024041" "50" "8068" "0" "8068" "0" "c.8068C>T" "r.(?)" "p.(Arg2690Ter)" "" "0000525596" "00024041" "50" "8274" "0" "8274" "0" "c.8274del" "r.(?)" "p.(Lys2758AsnfsTer6)" "" "0000609700" "00024041" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ala98=)" "" "0000609701" "00024041" "90" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Gln144Ter)" "" "0000609702" "00024041" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Gln559Ter)" "" "0000609703" "00024041" "30" "2076" "0" "2076" "0" "c.2076A>G" "r.(?)" "p.(Arg692=)" "" "0000609704" "00024041" "50" "3139" "0" "3139" "0" "c.3139G>T" "r.(?)" "p.(Val1047Leu)" "" "0000609705" "00024041" "50" "3869" "0" "3869" "0" "c.3869A>G" "r.(?)" "p.(Glu1290Gly)" "" "0000609706" "00024041" "30" "6343" "10" "6343" "10" "c.6343+10A>G" "r.(=)" "p.(=)" "" "0000609707" "00024041" "30" "7474" "0" "7474" "0" "c.7474G>A" "r.(?)" "p.(Asp2492Asn)" "" "0000621564" "00024041" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "" "0000621565" "00024041" "50" "784" "0" "784" "0" "c.784T>C" "r.(?)" "p.(Ser262Pro)" "" "0000621567" "00024041" "90" "7219" "0" "7219" "0" "c.7219C>T" "r.(?)" "p.(Arg2407Ter)" "" "0000631937" "00024041" "90" "3222" "0" "3223" "0" "c.3222_3223insT" "r.(?)" "p.(Lys1075*)" "" "0000651700" "00024041" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000651701" "00024041" "70" "358" "5" "358" "5" "c.358+5G>C" "r.spl?" "p.?" "" "0000651702" "00024041" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000651703" "00024041" "90" "610" "1" "610" "1" "c.610+1G>A" "r.spl?" "p.?" "" "0000651705" "00024041" "50" "2447" "0" "2447" "0" "c.2447G>A" "r.(?)" "p.(Arg816His)" "" "0000651706" "00024041" "90" "3322" "0" "3322" "0" "c.3322A>T" "r.(?)" "p.(Lys1108*)" "" "0000651707" "00024041" "70" "3440" "0" "3440" "0" "c.3440G>A" "r.(?)" "p.(Arg1147Gln)" "" "0000651708" "00024041" "90" "4593" "0" "4593" "0" "c.4593T>G" "r.(?)" "p.(Tyr1531*)" "" "0000651709" "00024041" "90" "4712" "0" "4712" "0" "c.4712C>A" "r.(?)" "p.(Ser1571*)" "" "0000651710" "00024041" "90" "5455" "0" "5455" "0" "c.5455C>T" "r.(?)" "p.(Arg1819*)" "" "0000651711" "00024041" "30" "5690" "0" "5690" "0" "c.5690A>G" "r.(?)" "p.(Asn1897Ser)" "" "0000651712" "00024041" "90" "5709" "2" "5709" "2" "c.5709+2T>G" "r.spl?" "p.?" "" "0000651713" "00024041" "90" "5808" "1" "5808" "1" "c.5808+1G>A" "r.spl?" "p.?" "" "0000651714" "00024041" "70" "5923" "0" "5923" "0" "c.5923G>T" "r.(?)" "p.(Val1975Phe)" "" "0000651715" "00024041" "90" "6954" "1" "6954" "1" "c.6954+1G>A" "r.spl?" "p.?" "" "0000651716" "00024041" "90" "7327" "0" "7327" "0" "c.7327C>T" "r.(?)" "p.(Gln2443*)" "" "0000653308" "00024041" "90" "2903" "0" "2903" "0" "c.2903del" "r.(?)" "p.(Asn968Metfs*11)" "" "0000655375" "00024041" "30" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Asn60Ser)" "" "0000655376" "00024041" "50" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Ala268Thr)" "" "0000655377" "00024041" "50" "4229" "0" "4231" "0" "c.4229_4231del" "r.(?)" "p.(Thr1410del)" "" "0000655378" "00024041" "30" "4242" "0" "4242" "0" "c.4242T>G" "r.(?)" "p.(Val1414=)" "" "0000659780" "00024041" "70" "5329" "-1" "5329" "-1" "c.5329-1G>T" "r.(?)" "p.(?)" "" "0000673988" "00024041" "70" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Arg2298Cys)" "" "0000677506" "00024041" "50" "2227" "0" "2227" "0" "c.2227C>T" "r.(?)" "p.(Arg743Cys)" "" "0000677507" "00024041" "70" "2582" "0" "2582" "0" "c.2582C>G" "r.(?)" "p.(Ser861Ter)" "" "0000677508" "00024041" "50" "5536" "0" "5536" "0" "c.5536G>A" "r.(?)" "p.(Ala1846Thr)" "" "0000689512" "00024041" "50" "1856" "0" "1856" "0" "c.1856G>A" "r.(?)" "p.(Arg619Lys)" "" "0000689513" "00024041" "70" "6371" "0" "6371" "0" "c.6371A>C" "r.(?)" "p.(His2124Pro)" "" "0000689514" "00024041" "50" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Arg2407Gln)" "" "0000698343" "00024041" "70" "6305" "0" "6305" "0" "c.6305A>G" "r.(?)" "p.(Asn2102Ser)" "36" "0000698344" "00024041" "90" "6741" "0" "6742" "0" "c.6741_6742insGC" "r.(?)" "p.(Met2248Alafs* 18)" "39" "0000720415" "00024041" "30" "781" "0" "781" "0" "c.781T>G" "r.(?)" "p.(Ser261Ala)" "" "0000720416" "00024041" "30" "2164" "0" "2164" "0" "c.2164C>T" "r.(?)" "p.(Pro722Ser)" "" "0000720417" "00024041" "30" "4921" "-9" "4921" "-9" "c.4921-9A>G" "r.(=)" "p.(=)" "" "0000720418" "00024041" "90" "5366" "0" "5366" "0" "c.5366G>A" "r.(?)" "p.(Arg1789Gln)" "" "0000720419" "00024041" "70" "5567" "0" "5567" "0" "c.5567G>C" "r.(?)" "p.(Arg1856Thr)" "" "0000720420" "00024041" "90" "6466" "0" "6466" "0" "c.6466T>A" "r.(?)" "p.(Phe2156Ile)" "" "0000720421" "00024041" "50" "6976" "0" "6976" "0" "c.6976A>G" "r.(?)" "p.(Met2326Val)" "" "0000730029" "00024041" "90" "5464" "0" "5464" "0" "c.5464G>C" "r.(?)" "p.(Asp1822His)" "" "0000736053" "00024041" "70" "3121" "1" "3121" "1" "c.3121+1G>C" "r.spl?" "p.?" "" "0000786651" "00024041" "70" "3425" "0" "3425" "0" "c.3425dup" "r.(?)" "p.(Gly1143Trpfs*13)" "" "0000786962" "00024041" "90" "2689" "0" "2689" "0" "c.2689C>T" "r.(?)" "p.(Gln897Ter)" "10" "0000786963" "00024041" "90" "5272" "0" "5272" "0" "c.5272C>T" "r.(?)" "p.(Arg1758Ter)" "27" "0000787100" "00024041" "70" "3122" "-1" "6108" "1" "c.(3121+1_3122-1)_(6108+1_6109-1)del" "r.?" "p.?" "10i_34i" "0000787101" "00024041" "70" "231" "-1" "358" "1" "c.(230+1_231-1)_(358+1_359-1)del" "r.?" "p.?" "3i_4i" "0000787334" "00024041" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Asp86Asn)" "4" "0000787335" "00024041" "50" "4422" "-3" "4422" "-3" "c.4422-3A>G" "r.spl" "p.?" "20i" "0000787336" "00024041" "50" "6108" "7" "6108" "7" "c.6108+7A>G" "r.spl" "p.?" "34i" "0000787337" "00024041" "50" "6109" "-3" "6109" "-3" "c.6109-3T>C" "r.spl" "p.?" "34i" "0000787338" "00024041" "50" "7639" "0" "7639" "0" "c.7639C>T" "r.(?)" "p.(Leu2547Phe)" "44" "0000787556" "00024041" "50" "2423" "0" "2423" "0" "c.2423G>C" "r.(?)" "p.(Arg808Pro)" "10" "0000791665" "00024041" "70" "7553" "0" "7553" "0" "c.7553A>G" "r.(?)" "p.(Asp2518Gly)" "" "0000794111" "00024041" "70" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Pro413Ser)" "" "0000795685" "00024041" "50" "3431" "0" "3431" "0" "c.3431G>A" "r.(?)" "p.(Gly1144Asp)" "12" "0000802085" "00024041" "50" "507" "0" "507" "0" "c.507G>T" "r.(?)" "p.(Gln169His)" "" "0000802086" "00024041" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "" "0000802087" "00024041" "30" "1321" "0" "1321" "0" "c.1321A>G" "r.(?)" "p.(Thr441Ala)" "" "0000802088" "00024041" "30" "1495" "8" "1495" "10" "c.1495+8_1495+10del" "r.(=)" "p.(=)" "" "0000802089" "00024041" "90" "1579" "0" "1579" "0" "c.1579G>T" "r.(?)" "p.(Glu527*)" "" "0000802090" "00024041" "90" "7168" "0" "7168" "0" "c.7168G>A" "r.(?)" "p.(Ala2390Thr)" "" "0000822510" "00024041" "70" "272" "0" "280" "0" "c.272_280del" "r.(?)" "p.(Asp91_Pro93del)" "" "0000846213" "00024041" "70" "1970" "0" "1970" "0" "c.1970G>T" "r.(?)" "p.(Arg657Ile)" "10" "0000846451" "00024041" "30" "7263" "153" "7263" "153" "c.7263+153A>T" "r.(?)" "p.(=)" "" "0000850899" "00024041" "50" "1247" "0" "1247" "0" "c.1247C>G" "r.(?)" "p.(Ala416Gly)" "" "0000850900" "00024041" "50" "3035" "0" "3035" "0" "c.3035A>T" "r.(?)" "p.(Asp1012Val)" "" "0000859916" "00024041" "50" "6375" "0" "6375" "0" "c.6375A>C" "r.(?)" "p.(Gln2125His)" "" "0000881300" "00024041" "70" "8384" "0" "8384" "0" "c.8384T>C" "r.(?)" "p.(Leu2795Pro)" "" "0000886815" "00024041" "90" "611" "-6" "611" "-6" "c.611-6T>C" "r.(=)" "p.(=)" "" "0000886816" "00024041" "50" "1189" "0" "1189" "0" "c.1189C>G" "r.(?)" "p.(Pro397Ala)" "" "0000886817" "00024041" "90" "4560" "1" "4560" "1" "c.4560+1G>C" "r.spl?" "p.?" "" "0000886818" "00024041" "90" "4644" "-3" "4644" "-3" "c.4644-3C>G" "r.spl?" "p.?" "" "0000886819" "00024041" "30" "5101" "0" "5101" "0" "c.5101T>C" "r.(?)" "p.(Ser1701Pro)" "" "0000886820" "00024041" "70" "5491" "0" "5491" "0" "c.5491G>C" "r.(?)" "p.(Ala1831Pro)" "" "0000886821" "00024041" "50" "6454" "0" "6454" "0" "c.6454C>T" "r.(?)" "p.(Arg2152Trp)" "" "0000886822" "00024041" "90" "6892" "0" "6892" "0" "c.6892C>T" "r.(?)" "p.(Arg2298Cys)" "" "0000904819" "00024041" "70" "1411" "0" "1411" "0" "c.1411T>G" "r.(?)" "p.(Leu471Val)" "" "0000912327" "00024041" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Gly884Glu)" "" "0000912328" "00024041" "50" "5245" "0" "5245" "0" "c.5245G>A" "r.(?)" "p.(Asp1749Asn)" "" "0000912329" "00024041" "50" "6397" "0" "6397" "0" "c.6397C>T" "r.(?)" "p.(Leu2133Phe)" "" "0000912330" "00024041" "50" "7421" "0" "7421" "0" "c.7421A>C" "r.(?)" "p.(Lys2474Thr)" "" "0000920413" "00024041" "50" "7410" "7" "7410" "7" "c.7410+7del" "r.(?)" "p.(?)" "43i" "0000924334" "00024041" "50" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Arg490His)" "" "0000924335" "00024041" "30" "2698" "0" "2698" "0" "c.2698T>A" "r.(?)" "p.(Ser900Thr)" "" "0000924336" "00024041" "50" "3068" "0" "3068" "0" "c.3068A>G" "r.(?)" "p.(Lys1023Arg)" "" "0000933224" "00024041" "70" "7637" "0" "7637" "0" "c.7637T>C" "r.(?)" "p.(Leu2546Pro)" "44" "0000933225" "00024041" "70" "5214" "0" "5214" "0" "c.5214dup" "r.(?)" "p.(Ser1739*)" "26" "0000933226" "00024041" "70" "2149" "0" "2150" "0" "c.2149_2150del" "r.(?)" "p.(Lys717Glufs*2)" "10" "0000933227" "00024041" "70" "64" "1" "64" "1" "c.64+1G>A" "r.spl" "p.?" "2" "0000933228" "00024041" "70" "1808" "0" "1808" "0" "c.1808del" "r.(?)" "p.(Lys603Serfs*11)" "10" "0000933229" "00024041" "70" "3304" "1" "3304" "4" "c.3304+1_3304+4del" "r.spl" "p.?" "11" "0000933230" "00024041" "70" "771" "1" "771" "1" "c.771+1G>A" "r.spl" "p.?" "7" "0000933231" "00024041" "70" "64" "-3" "64" "-3" "c.64-3T>G" "r.spl" "p.?" "3" "0000933232" "00024041" "70" "4321" "0" "4321" "0" "c.4321G>T" "r.(?)" "p.(Val1441Leu)" "20" "0000933233" "00024041" "70" "914" "0" "914" "0" "c.914C>A" "r.(?)" "p.(Ser305*)" "9" "0000933234" "00024041" "70" "7903" "0" "7940" "0" "c.7903_7940del" "r.(?)" "p.(Glu2635Glnfs*13)" "46" "0000933235" "00024041" "70" "5427" "4" "5427" "4" "c.5427+4A>G" "r.spl" "p.?" "28" "0000933248" "00024041" "90" "2479" "0" "2480" "0" "c.2479_2480del" "r.(?)" "p.(Arg827Glyfs*2)" "10" "0000933249" "00024041" "70" "4829" "0" "4829" "0" "c.4829T>C" "r.(?)" "p.(Leu1610Pro)" "24" "0000933250" "00024041" "70" "6527" "0" "6527" "0" "c.6527T>C" "r.(?)" "p.(Leu2176Pro)" "38" "0000933251" "00024041" "70" "7175" "0" "7175" "0" "c.7175G>A" "r.(?)" "p.(Cys2392Tyr)" "42" "0000933252" "00024041" "90" "459" "-2" "459" "-2" "c.459-2A>G" "r.spl" "p.?" "5i" "0000936018" "00024041" "90" "7816" "0" "7816" "0" "c.7816dup" "r.(?)" "p.(Ile2606Asnfs*26)" "" "0000948551" "00024041" "90" "10" "0" "10" "0" "c.10dup" "r.(?)" "p.(Asp4Glyfs*15)" "" "0000948552" "00024041" "50" "6202" "0" "6202" "0" "c.6202A>G" "r.(?)" "p.(Thr2068Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 408 "{{screeningid}}" "{{variantid}}" "0000050450" "0000079430" "0000102534" "0000165276" "0000180455" "0000403965" "0000180456" "0000403966" "0000180457" "0000403967" "0000180458" "0000403968" "0000180459" "0000403969" "0000180460" "0000403970" "0000180461" "0000403971" "0000180462" "0000403972" "0000180463" "0000403973" "0000180464" "0000403974" "0000180465" "0000403975" "0000180466" "0000403976" "0000180467" "0000403977" "0000180468" "0000403978" "0000180469" "0000403979" "0000180470" "0000403980" "0000180471" "0000403981" "0000180472" "0000403982" "0000180473" "0000403983" "0000180474" "0000403984" "0000180475" "0000403985" "0000180476" "0000403986" "0000180477" "0000403987" "0000180478" "0000403988" "0000180479" "0000403989" "0000180480" "0000403990" "0000180481" "0000403991" "0000180482" "0000403992" "0000180483" "0000403993" "0000180484" "0000403994" "0000180485" "0000403995" 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