### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SMC1A) # 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}}" "SMC1A" "structural maintenance of chromosomes 1A" "X" "p11.22-p11.21" "unknown" "LRG_773" "UD_132118627819" "" "https://www.LOVD.nl/SMC1A" "" "1" "11111" "8243" "300040" "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/SMC1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-09-10 00:00:00" "00006" "2023-08-31 23:37:54" "00006" "2025-11-13 13:04:16" ## 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}}" "00001074" "SMC1A" "structural maintenance of chromosomes 1A" "001" "NM_006306.2" "" "NP_006297.2" "" "" "" "-69" "9656" "3702" "53401070" "53449618" "00000" "2012-09-13 13:11:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00128" "CF" "cystic fibrosis (CF)" "AR" "219700" "" "" "" "00006" "2013-05-14 09:22:43" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "01065" "CDLS2" "Cornelia de Lange syndrome, type 2 (CDLS-2)" "XLD" "300590" "" "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 23:37:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06871" "EIEE85" "Epileptic encephalopathy, early infantile, 85, with or without midline brain defects" "" "301044" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SMC1A" "00139" "SMC1A" "01065" "SMC1A" "04281" "SMC1A" "06871" ## Individuals ## Do not remove or alter this header ## ## Count = 91 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00019859" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "F" "?" "" "" "0" "" "" "" "" "00019912" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00050409" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050664" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080991" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00179462" "" "" "" "1" "" "00503" "" "" "F" "" "Portugal" "" "0" "" "" "" "?" "00179463" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "?" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00179464" "" "" "" "6" "" "00006" "{PMID:Musio 2006:16604071}" "3-generation family, 3 affecteds (2 brothers and first cousin), 3 non-affected female carriers" "M" "" "(Italy)" "" "0" "" "" "" "16604071.Fam1" "00179465" "" "" "" "1" "" "00006" "{PMID:Musio 2006:16604071}" "" "M" "" "(Italy)" "" "0" "" "" "" "16604071.Fam2-II.3" "00179466" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "F" "" "" "" "0" "" "" "" "16604071.3P" "00179467" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "M" "" "" "" "0" "" "" "" "16604071.4P" "00179468" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "M" "" "" "" "0" "" "" "" "16604071.5P" "00179469" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "inherited from mildly affected mother" "M" "" "" "" "0" "" "" "" "16604071.6P" "00179470" "" "" "" "2" "" "00006" "{PMID:Deardorff 2007:17273969}" "sister of16604071.7S" "F" "" "" "" "0" "" "" "" "16604071.7P" "00179471" "" "" "00179470" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "sister of 16604071.7P" "F" "" "" "" "0" "" "" "" "16604071.7S" "00179472" "" "" "" "2" "" "00006" "{PMID:Deardorff 2007:17273969}" "sister of 16604071.8S" "F" "" "" "" "0" "" "" "" "16604071.8P" "00179473" "" "" "00179472" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "sister of 16604071.8P" "F" "" "" "" "0" "" "" "" "16604071.8S" "00179474" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "F" "" "" "" "0" "" "" "" "16604071.9P" "00179475" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "F" "" "" "" "0" "" "" "" "16604071.10P" "00179476" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "F" "" "" "" "0" "" "" "" "16604071.11P" "00179477" "" "" "" "1" "" "00006" "{PMID:Deardorff 2007:17273969}" "" "F" "" "" "" "0" "" "" "" "16604071.12P" "00179478" "" "" "" "1" "" "01067" "{PMID:Borck 2007:17221863}" "" "M" "" "(France)" "" "0" "" "" "" "17221863-Pat2" "00179479" "" "" "" "1" "" "01067" "{PMID:Borck 2007:17221863}" "" "" "" "(France)" "" "0" "" "" "" "17221863-Pat1" "00179480" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179481" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179482" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179483" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat3" "00179484" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat5" "00179485" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat6" "00179486" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat7" "00179487" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat10" "00179488" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat11" "00179489" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat13" "00179490" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat15" "00179491" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat16" "00179492" "" "" "" "1" "" "01067" "{PMID:Liu 2009:19701948}" "" "F" "" "" "" "0" "" "" "" "19701948-Pat18" "00179493" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00179494" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00179495" "" "" "" "1" "" "01067" "{PMID:Pié 2010:20358602}" "" "M" "" "Spain" "" "0" "" "" "" "Pié C30" "00179496" "" "" "" "1" "" "01067" "{PMID:Pié 2010:20358602}" "" "F" "" "Spain" "" "0" "" "" "" "Pié C13" "00179497" "" "" "" "1" "" "01067" "{PMID:Pié 2010:20358602}" "" "M" "" "Romania" "" "0" "" "" "" "Pié C2" "00179498" "" "" "" "1" "" "01067" "{PMID:Limongelli 2010:20635401}" "" "F" "" "Italy" "" "0" "" "" "" "Limongelli 2010" "00179499" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "M" "" "Italy" "" "0" "" "" "" "Gervasini 1" "00179500" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "" "" "0" "" "" "North Africa" "Gervasini 2" "00179501" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Italy" "" "0" "" "" "" "Gervasini 3" "00179502" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Switzerland" "" "0" "" "" "" "Gervasini 4" "00179503" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Italy" "" "0" "" "" "" "Gervasini 5" "00179504" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Chile" "" "0" "" "" "" "Gervasini 6" "00179505" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Italy" "" "0" "" "" "" "Gervasini 7" "00179506" "" "" "" "1" "" "01067" "{PMID:Gervasini 2013:24124034}" "" "F" "" "Italy" "" "0" "" "" "" "Gervasini 8" "00179507" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "F" "" "Denmark" "" "0" "" "" "" "" "00179508" "" "" "" "1" "" "01067" "Redeker (unpublished)" "" "M" "" "Belgium" "" "0" "" "" "" "" "00179509" "" "" "" "1" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "Turkey" "" "0" "" "" "" "Pat17" "00234359" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00269488" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00302947" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat3" "00303059" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat104" "00315048" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1404" "00320163" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00374505" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5036" "00374506" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5409" "00401519" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "145P" "00412362" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "F" "" "Sweden" "" "0" "" "" "" "Fam6" "00436335" "" "" "" "2" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 2 affected, unaffected heterozygous mother" "M" "" "United States" "" "0" "" "" "" "FamBAB4135" "00436336" "" "" "00436335" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "sibling" "M" "" "United States" "" "0" "" "" "" "FamBAB4136" "00436337" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "BAB3623" "00436338" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "BAB5452" "00436339" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "100976P" "00436340" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "LAT1403" "00436353" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat1" "00436354" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat2" "00436355" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat3" "00436356" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat4" "00436357" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat5" "00436358" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "SMC1A-Pat6" "00436359" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat7" "00436360" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat8" "00436361" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat9" "00436362" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat10" "00436363" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat11" "00436364" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat12" "00436365" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "SMC1A-Pat13" "00436366" "" "" "" "1" "" "00006" "{PMID:Yuan 2019:30158690}" "2-generation family, 1 affected, mildly affected parant" "M" "" "" "" "0" "" "" "" "SMC1A-Pat14" "00438297" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat15" "00438630" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0107" "00444353" "" "" "" "1" "" "01164" "" "" "F" "?" "India" "" "0" "" "" "" "277705" "00469404" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469405" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469406" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 95 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00019859" "00139" "00019912" "00139" "00050409" "00198" "00050664" "00198" "00080991" "01065" "00179462" "04281" "00179463" "00139" "00179464" "04281" "00179465" "04281" "00179466" "04281" "00179467" "04281" "00179468" "04281" "00179469" "04281" "00179470" "04281" "00179471" "04281" "00179472" "04281" "00179473" "04281" "00179474" "04281" "00179475" "04281" "00179476" "04281" "00179477" "04281" "00179478" "04281" "00179479" "04281" "00179480" "04281" "00179481" "04281" "00179482" "04281" "00179483" "04281" "00179484" "04281" "00179485" "04281" "00179486" "04281" "00179487" "04281" "00179488" "04281" "00179489" "04281" "00179490" "04281" "00179491" "04281" "00179492" "04281" "00179493" "04281" "00179494" "04281" "00179495" "04281" "00179496" "04281" "00179497" "04281" "00179498" "04281" "00179499" "04281" "00179500" "04281" "00179501" "04281" "00179502" "04281" "00179503" "04281" "00179504" "04281" "00179505" "04281" "00179506" "04281" "00179507" "04281" "00179508" "04281" "00179509" "00139" "00234359" "00198" "00269488" "00841" "00302947" "00139" "00303059" "05521" "00315048" "00198" "00320163" "00198" "00374505" "00198" "00374506" "00198" "00401519" "00139" "00412362" "05611" "00436335" "04281" "00436336" "04281" "00436337" "04281" "00436338" "04281" "00436339" "04281" "00436340" "04281" "00436353" "04281" "00436354" "00244" "00436354" "04281" "00436355" "04281" "00436356" "00128" "00436356" "04281" "00436357" "00198" "00436357" "04281" "00436358" "04281" "00436358" "05121" "00436359" "04281" "00436360" "04281" "00436361" "04281" "00436362" "04281" "00436363" "04281" "00436364" "04281" "00436365" "04281" "00436366" "04281" "00438297" "04270" "00438630" "06906" "00444353" "01065" "00469404" "00198" "00469405" "00198" "00469406" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00128, 00139, 00198, 00244, 00841, 01065, 01157, 04270, 04281, 05121, 05521, 05611, 06871, 06906 ## Count = 90 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000017591" "00139" "00019859" "00705" "Unknown" "?" "Severe ID with epilepsy. No speech. Short stature, microcephaly and enlarged ventricles and hypertrophy of the cerebellar vermis. Hypotonia, cleft palate, cataract, scoliosis and stereotypic movements. Dysmorphic features included a low frontal-temporal hairline, deep-set eyes, a flat midface, long narrow ears, a long nose with a high bridge, a short philtrum, an everted lower lip and a prominent jaw. In addition, she had scoliosis, short narrow hands, tapered fingers and several contractures." "" "" "" "" "" "" "" "" "" "" "" "" "0000017687" "00139" "00019912" "00705" "Isolated (sporadic)" "" "severe ID, severe epilepsy, Rett-like phenotype, motor handicap, severe feeding difficulties, progressive scoliosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000037021" "00198" "00050409" "00006" "Isolated (sporadic)" "" "conductive hearing impairment, highly arched eyebrow, abnormal location of ears, generalized hirsutism, synophrys, diabetes mellitus, hypothyroidism" "" "" "" "" "" "" "" "" "" "" "" "" "0000037276" "00198" "00050664" "00006" "Unknown" "" "delayed speech and language development, abnormal facial shape, microcephaly, intrauterine growth retardation, global developmental delay, clinodactyly of the 5th finger, persistence of primary teeth, nasal speech, brachydactyly syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000060560" "01065" "00080991" "01758" "Isolated (sporadic)" "" "Cornelia de Lange syndrome 2 (OMIM:300590)" "" "" "" "" "" "" "" "" "" "" "" "" "0000141948" "04281" "00179462" "00503" "Unknown" "8y" "mild; facial features; no facial cleft; no genital anomalies; Yc; no congenital heart defects; hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; upper limb defects small hands only; no microcephaly; no urinary anomalies" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141949" "00139" "00179463" "00124" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000141950" "04281" "00179464" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141951" "04281" "00179465" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141952" "04281" "00179466" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141953" "04281" "00179467" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141954" "04281" "00179468" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141955" "04281" "00179469" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141956" "04281" "00179470" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141957" "04281" "00179471" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141958" "04281" "00179472" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141959" "04281" "00179473" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141960" "04281" "00179474" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141961" "04281" "00179475" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141962" "04281" "00179476" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141963" "04281" "00179477" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141964" "04281" "00179478" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141965" "04281" "00179479" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141966" "04281" "00179480" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141967" "04281" "00179481" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141968" "04281" "00179482" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141969" "04281" "00179483" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141970" "04281" "00179484" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141971" "04281" "00179485" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141972" "04281" "00179486" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141973" "04281" "00179487" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141974" "04281" "00179488" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141975" "04281" "00179489" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141976" "04281" "00179490" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141977" "04281" "00179491" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141978" "04281" "00179492" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141979" "04281" "00179493" "01067" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141980" "04281" "00179494" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141981" "04281" "00179495" "01067" "Isolated (sporadic)" "" "no facial cleft; genital anomalies; congenital heart defects; no hirsutism; intrauterine growth retardation; post-natal growth retardation; lower limb defects small feet only; no upper limb defects; microcephaly; urinary anomalies" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141982" "04281" "00179496" "01067" "Isolated (sporadic)" "" "facial cleft; genital anomalies; no congenital heart defects; no hirsutism; intrauterine growth retardation; no post-natal growth retardation; upper limb defects digits; microcephaly; urinary anomalies" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141983" "04281" "00179497" "01067" "Isolated (sporadic)" "" "no facial cleft; no genital anomalies; congenital heart defects; hirsutism; no intrauterine growth retardation; post-natal growth retardation; upper limb defects digits; microcephaly; no urinary anomalies" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141984" "04281" "00179498" "01067" "Isolated (sporadic)" "" "intrauterine growth restriction (from 3rd month of pregnancy); 6y-weight, height and head circumference <3rd centile; frequent respiratory infections; severe gross motor delay, 4y-wheelchair, no speech; hypertrophic cardiomyopathy; synophrys; downslanting palpebral fissures, long curly eyelashes, thin vermilion (upper lip); hand and feet length <3rd centile; ptosis" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000141985" "04281" "00179499" "01067" "Isolated (sporadic)" "" "speech >4y; facial features; congenital heart defects; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit >20m" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141986" "04281" "00179500" "01067" "Isolated (sporadic)" "" "speech >4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Moderate intellectual disability (IQ:35-50); sit 9m-20m; walking 18m-42m" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141987" "04281" "00179501" "01067" "Isolated (sporadic)" "" "facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; sit 9m-20m; walking 18m-42m" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141988" "04281" "00179502" "01067" "Isolated (sporadic)" "" "speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; Mild intellectual disability (IQ:50-80)" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141989" "04281" "00179503" "01067" "Isolated (sporadic)" "" "speech >4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; severe intellectual disability; milestones in motor development delayed, sit >20m, walk >42m; weight, height and head circumference 50th–95th centile; facial dysmorphism (like CdLS), arched eyebrows, thin vermillion (upper lip), cleft palate; neurosensory hearing loss; astigmatism; corneal ulcers; needed assisted feeding" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141990" "04281" "00179504" "01067" "Isolated (sporadic)" "" "speech 2y-4y; facial features; intrauterine growth retardation; lower limb defects small feet only; upper limb defects small hands only; sit 9m-20m; walking >42m" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141991" "04281" "00179505" "01067" "Isolated (sporadic)" "" "speech 2y-4y; facial features; intrauterine growth retardation; no lower limb defects; no upper limb defects; Moderate intellectual disability (IQ:35-50)" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141992" "04281" "00179506" "01067" "Isolated (sporadic)" "" "speech 2y-4y; facial features; no intrauterine growth retardation; no lower limb defects; no upper limb defects; Mild intellectual disability (IQ:50-80); sit 9m-20m; walking >42m" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141993" "04281" "00179507" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141994" "04281" "00179508" "01067" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS-2" "Cornelia de Lange syndrome" "" "0000141995" "00139" "00179509" "00714" "Familial" "" "born 34w Cesarean section, low birth measurements, weight 1180g (<3rd centile), length 35 cm (<3rd centile), OFC 35 cm (<3rd centile), congenital heart disease, anomalous aortic arch, atrial septal defect, aberrant subclavian artery, cryptorchidism, sensorineural hearing loss, bilateral inguinal hernias; 5y8m-short stature (101 cm, <3rd centile), borderline microcephaly (49.5 cm, 3rd centile), facial dysmorphism, triangular face, downslanting palpebral fissures, strabismus, ptosis, small nose, anteverted nares, thin upper lip, dysplastic, low-set posteriorly rotated ears; single transverse palmar creases hands, thin legs, no hand or foot malformations; psychomotor development severely delayed, unable to walk without support, no speech" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000174777" "00198" "00234359" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Seizures (HP:0001250); Downslanted palpebral fissures (HP:0000494); Highly arched eyebrow (HP:0002553); Laterally extended eyebrow (HP:0011230); Long philtrum (HP:0000343); Long eyelashes (HP:0000527); Thin upper lip vermilion (HP:0000219); High forehead (HP:0000348); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207315" "00841" "00269488" "03512" "Isolated (sporadic)" "" "Epileptic Encephalopaty (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "" "0000230031" "00139" "00302947" "00006" "Isolated (sporadic)" "" "intrauterine growth restriction (from 33w); 10m-weight, height and head circumference <3rd centile; 7y-microcephaly, weight <<3rd centile; severe gross motor delay, dystonic-hypotonic infantile cerebral palsy, hypertonia (since birth), no speech; atrial septal defect (fossa oval), pulmonary stenosis, mild aortic coarctation; synophrys; hirsutism (from birth); short palpebral fissures, long eyelashes, thin lips; hallux valgus (bilateral), feet with talus valgus reducible, dysplastic nails (some), fifth finger clinodactyly; gastroesophageal reflux; high arched palate; mild retrognatia; hearing loss (50-60%); precocious pubarche; cerebral NMR normal" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230142" "05521" "00303059" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Onset; age onset infantile" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000238800" "00198" "00315048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Coffin-Lowry syndrome" "chromatinopathy" "" "0000242209" "00198" "00320163" "01807" "Unknown" "" "Cyanosis (HP:0000961); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Increased serum lactate (HP:0002151); Frontotemporal cerebral atrophy (HP:0006892); Focal seizures, afebril (HP:0040168)" "" "" "" "" "" "" "" "" "" "" "" "" "0000269715" "00198" "00374505" "00006" "Familial, X-linked" "" "Global developmental delay. Brain MRI shows semilobar holoprosencephaly with colpocephaly" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269716" "00198" "00374506" "00006" "Familial, X-linked" "" "Inattention, poor eye contact, multiple mongoloid spots, hypotonia, hypertrichosis and epileptic encephalopathy with mild phenotypes of CdLS." "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000304367" "05611" "00412362" "00006" "Isolated (sporadic)" "" "psychomotor developmental delay, generalized epilepsy, delayed speech development, encephalopathy" "" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000326515" "04281" "00436335" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326516" "04281" "00436336" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326517" "04281" "00436337" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326518" "04281" "00436338" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326519" "04281" "00436339" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326520" "04281" "00436340" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326532" "04281" "00436353" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326533" "04281" "00436354" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326534" "04281" "00436355" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326535" "04281" "00436356" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326536" "04281" "00436357" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326537" "04281" "00436358" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326538" "04281" "00436359" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326539" "04281" "00436360" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326540" "04281" "00436361" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326541" "04281" "00436362" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326542" "04281" "00436363" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326543" "04281" "00436364" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326544" "04281" "00436365" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000326545" "04281" "00436366" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "CDLS2" "Cornelia de Lange syndrome" "" "0000328201" "04270" "00438297" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000252 microcephaly; HP:0000750 delayed speech and language development; HP:0001249 intellectual disability" "2y6m" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328533" "06906" "00438630" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000333606" "01065" "00444353" "01164" "Isolated (sporadic)" "07y" "Global developmental delay, Delayed speech and language development, Intellectual disability, Failure to thrive, Short stature, Microcephaly, Decreased body weight, Limited elbow extension" "" "" "" "" "" "" "" "" "" "" "" "" "0000354557" "00198" "00469404" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354558" "00198" "00469405" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354559" "00198" "00469406" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 91 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000019850" "00019859" "1" "00705" "00705" "2014-09-08 09:49:22" "00006" "2014-11-07 21:32:09" "SEQ" "DNA" "" "" "0000019904" "00019912" "1" "00705" "00705" "2014-09-17 10:34:59" "00006" "2014-11-08 14:00:51" "SEQ" "DNA" "" "" "0000050354" "00050409" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050609" "00050664" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081103" "00080991" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000180366" "00179462" "1" "00503" "00503" "2012-06-05 15:27:31" "00006" "2012-06-11 13:29:30" "SEQ" "DNA" "" "" "0000180367" "00179463" "1" "00124" "00124" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000180368" "00179464" "1" "00006" "00006" "2009-09-04 16:50:35" "" "" "DHPLC;SEQ" "DNA" "" "" "0000180369" "00179465" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:26:11" "DHPLC;SEQ" "DNA" "" "" "0000180370" "00179466" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:25:20" "SEQ" "DNA" "" "" "0000180371" "00179467" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:25:36" "SEQ" "DNA" "" "" "0000180372" "00179468" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:25:54" "SEQ" "DNA" "" "" "0000180373" "00179469" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:26:39" "SEQ" "DNA" "" "" "0000180374" "00179470" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:40:47" "SEQ" "DNA" "" "" "0000180375" "00179471" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:41:03" "SEQ" "DNA" "" "" "0000180376" "00179472" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:41:54" "SEQ" "DNA" "" "" "0000180377" "00179473" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:42:14" "SEQ" "DNA" "" "" "0000180378" "00179474" "1" "00006" "00006" "2009-09-04 16:50:35" "00006" "2009-12-24 09:41:23" "SEQ" "DNA" "" "" "0000180379" "00179475" "1" "00006" "00006" "2009-09-04 16:50:35" "" "" "SEQ" "DNA" "" "" "0000180380" "00179476" "1" "00006" "00006" "2009-09-04 16:50:35" "" "" "SEQ" "DNA" "" "" "0000180381" "00179477" "1" "00006" "00006" "2009-09-04 16:50:35" "" "" "SEQ" "DNA" "" "" "0000180382" "00179478" "1" "01067" "01067" "2009-09-07 09:17:31" "01067" "2009-09-07 09:36:24" "SEQ" "DNA" "" "" "0000180383" "00179479" "1" "01067" "01067" "2009-09-07 09:31:08" "01067" "2009-09-07 10:01:14" "SEQ" "DNA" "" "" "0000180384" "00179480" "1" "01067" "01067" "2009-09-07 13:56:05" "01067" "2009-09-08 12:56:56" "SEQ" "DNA" "" "" "0000180385" "00179481" "1" "01067" "01067" "2009-09-07 14:06:32" "01067" "2009-09-08 12:57:35" "SEQ" "DNA" "" "" "0000180386" "00179482" "1" "01067" "01067" "2009-09-07 14:12:44" "01067" "2009-09-08 12:56:03" "SEQ" "DNA" "" "" "0000180387" "00179483" "1" "01067" "01067" "2009-09-08 13:40:14" "01067" "2009-09-08 14:39:55" "SEQ" "DNA" "" "" "0000180388" "00179484" "1" "01067" "01067" "2009-09-08 13:45:51" "01067" "2009-09-08 14:40:17" "SEQ" "DNA" "" "" "0000180389" "00179485" "1" "01067" "01067" "2009-09-08 13:50:07" "01067" "2009-09-08 14:46:24" "SEQ" "DNA" "" "" "0000180390" "00179486" "1" "01067" "01067" "2009-09-08 13:59:18" "01067" "2009-09-08 14:39:31" "SEQ" "DNA" "" "" "0000180391" "00179487" "1" "01067" "01067" "2009-09-08 14:06:35" "01067" "2009-09-08 14:41:03" "SEQ" "DNA" "" "" "0000180392" "00179488" "1" "01067" "01067" "2009-09-08 14:11:47" "01067" "2009-09-08 14:41:43" "SEQ" "DNA" "" "" "0000180393" "00179489" "1" "01067" "01067" "2009-09-08 14:15:02" "01067" "2009-09-08 14:42:21" "SEQ" "DNA" "" "" "0000180394" "00179490" "1" "01067" "01067" "2009-09-08 14:18:43" "01067" "2009-09-08 14:42:55" "SEQ" "DNA" "" "" "0000180395" "00179491" "1" "01067" "01067" "2009-09-08 14:22:18" "01067" "2009-09-08 14:43:27" "SEQ" "DNA" "" "" "0000180396" "00179492" "1" "01067" "01067" "2009-09-08 14:26:48" "01067" "2009-09-08 14:38:01" "SEQ" "DNA" "" "" "0000180397" "00179493" "1" "01067" "01067" "2010-03-08 14:19:28" "01067" "2010-05-20 10:01:51" "SEQ" "DNA" "" "" "0000180398" "00179494" "1" "01067" "01067" "2010-06-14 09:47:02" "01067" "2010-06-14 10:18:45" "SEQ" "DNA" "" "" "0000180399" "00179495" "1" "01067" "01067" "2010-06-14 13:46:51" "01067" "2010-06-15 10:17:44" "SEQ" "DNA" "" "" "0000180400" "00179496" "1" "01067" "01067" "2010-06-14 14:04:53" "01067" "2010-06-15 10:19:02" "SEQ" "DNA" "" "" "0000180401" "00179497" "1" "01067" "01067" "2010-06-14 14:17:10" "01067" "2010-06-15 10:20:28" "SEQ" "DNA" "" "" "0000180402" "00179498" "1" "01067" "01067" "2010-09-16 15:36:55" "01067" "2010-09-17 16:09:05" "DHPLC;SEQ" "DNA" "" "" "0000180403" "00179499" "1" "01067" "01067" "2014-06-27 11:29:19" "01067" "2014-06-27 13:55:37" "SEQ" "DNA" "" "" "0000180404" "00179500" "1" "01067" "01067" "2014-06-27 11:43:38" "01067" "2014-06-27 13:49:41" "SEQ" "DNA" "" "" "0000180405" "00179501" "1" "01067" "01067" "2014-06-27 12:47:42" "01067" "2014-06-27 13:53:01" "SEQ" "DNA" "" "" "0000180406" "00179502" "1" "01067" "01067" "2014-06-27 12:53:41" "01067" "2014-06-27 13:56:59" "SEQ" "DNA" "" "" "0000180407" "00179503" "1" "01067" "01067" "2014-06-27 13:05:04" "01067" "2014-06-27 13:57:26" "SEQ" "DNA" "" "" "0000180408" "00179504" "1" "01067" "01067" "2014-06-27 13:15:32" "01067" "2014-06-27 13:58:05" "SEQ" "DNA" "" "" "0000180409" "00179505" "1" "01067" "01067" "2014-06-27 13:36:18" "01067" "2014-06-27 13:59:41" "SEQ" "DNA" "" "" "0000180410" "00179506" "1" "01067" "01067" "2014-06-27 13:43:16" "01067" "2014-06-27 14:00:36" "SEQ" "DNA" "" "" "0000180411" "00179507" "1" "01067" "01067" "2014-06-27 15:34:32" "01067" "2014-06-27 15:43:55" "SEQ" "DNA" "" "" "0000180412" "00179508" "1" "01067" "01067" "2014-06-27 15:39:27" "01067" "2014-06-27 15:42:13" "SEQ" "DNA" "" "" "0000180413" "00179509" "1" "00714" "00714" "2014-06-04 15:43:18" "01067" "2014-06-27 09:20:28" "PCR;SEQ" "DNA" "" "" "0000235461" "00234359" "1" "01807" "01807" "2019-05-10 11:41:00" "" "" "SEQ" "DNA" "" "" "0000270642" "00269488" "1" "03512" "03512" "2019-11-28 17:48:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000304072" "00302947" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000304184" "00303059" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000316224" "00315048" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000321348" "00320163" "1" "01807" "01807" "2020-11-23 17:38:32" "" "" "SEQ" "DNA" "" "" "0000375699" "00374505" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375700" "00374506" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000402763" "00401519" "1" "02494" "02494" "2022-01-31 14:26:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000413634" "00412362" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437818" "00436335" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437819" "00436336" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437820" "00436337" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437821" "00436338" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437822" "00436339" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437823" "00436340" "1" "00006" "00006" "2023-09-01 16:03:44" "" "" "SEQ-NG" "DNA" "" "WES" "0000437835" "00436353" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437836" "00436354" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437837" "00436355" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437838" "00436356" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437839" "00436357" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437840" "00436358" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437841" "00436359" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437842" "00436360" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437843" "00436361" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437844" "00436362" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437845" "00436363" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437846" "00436364" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437847" "00436365" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000437848" "00436366" "1" "00006" "00006" "2023-09-04 09:51:16" "" "" "SEQ-NG" "DNA" "" "clinical WES" "0000439779" "00438297" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440112" "00438630" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000445921" "00444353" "1" "01164" "01164" "2023-12-22 15:44:44" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000471072" "00469404" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471073" "00469405" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471074" "00469406" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{geneid}}" "0000019850" "FHDC1" "0000019850" "FHOD1" "0000019850" "SMC1A" "0000019850" "ZNF566" "0000019904" "EPHB1" "0000019904" "SMC1A" "0000019904" "UCP1" "0000050354" "SMC1A" "0000081103" "SMC1A" "0000180366" "SMC1A" "0000180367" "SMC1A" "0000180368" "SMC1A" "0000180369" "SMC1A" "0000180370" "SMC1A" "0000180371" "SMC1A" "0000180372" "SMC1A" "0000180373" "SMC1A" "0000180374" "SMC1A" "0000180375" "SMC1A" "0000180376" "SMC1A" "0000180377" "SMC1A" "0000180378" "SMC1A" "0000180379" "SMC1A" "0000180380" "SMC1A" "0000180381" "SMC1A" "0000180382" "SMC1A" "0000180383" "SMC1A" "0000180384" "SMC1A" "0000180385" "SMC1A" "0000180386" "SMC1A" "0000180387" "SMC1A" "0000180388" "SMC1A" "0000180389" "SMC1A" "0000180390" "SMC1A" "0000180391" "SMC1A" "0000180392" "SMC1A" "0000180393" "SMC1A" "0000180394" "SMC1A" "0000180395" "SMC1A" "0000180396" "SMC1A" "0000180397" "SMC1A" "0000180398" "SMC1A" "0000180399" "SMC1A" "0000180400" "SMC1A" "0000180401" "SMC1A" "0000180402" "SMC1A" "0000180403" "SMC1A" "0000180404" "SMC1A" "0000180405" "SMC1A" "0000180406" "SMC1A" "0000180407" "SMC1A" "0000180408" "SMC1A" "0000180409" "SMC1A" "0000180410" "SMC1A" "0000180411" "SMC1A" "0000180412" "SMC1A" "0000180413" "SMC1A" "0000304072" "SMC1A" "0000304184" "SMC1A" "0000316224" "SMC1A" "0000375699" "SMC1A" "0000375700" "SMC1A" "0000445921" "SMC1A" ## 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 = 175 "{{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}}" "0000002987" "20" "30" "X" "53449338" "53449338" "dup" "0" "00037" "SMC1A_000044" "g.53449338dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53422386dup" "" "likely benign" "" "0000006927" "20" "50" "X" "53436232" "53436232" "subst" "0.960508" "00037" "SMC1A_000042" "g.53436232G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53409301=" "" "VUS" "" "0000006928" "20" "30" "X" "53449568" "53449568" "subst" "0.524123" "00037" "SMC1A_000043" "g.53449568G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53422619G>A" "" "likely benign" "" "0000009005" "20" "50" "X" "53436232" "53436232" "subst" "0.960508" "00037" "SMC1A_000042" "g.53436232G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53409301=" "" "VUS" "" "0000009007" "20" "30" "X" "53449568" "53449568" "subst" "0.524123" "00037" "SMC1A_000043" "g.53449568G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53422619G>A" "" "likely benign" "" "0000010979" "20" "30" "X" "53449338" "53449338" "dup" "0" "00037" "SMC1A_000044" "g.53449338dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.53422386dup" "" "likely benign" "" "0000040309" "0" "90" "X" "53430554" "53430554" "del" "0" "00705" "SMC1A_000050" "g.53430554del" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.53403622del" "" "pathogenic" "" "0000046779" "0" "90" "X" "53424895" "53427008" "del" "0" "00006" "SMC1A_000051" "g.53424895_53427008del" "" "{PMID:Gilissen 2014:24896178}" "" "g.53424894_53427008del" "" "De novo" "" "" "0" "" "" "g.53397971_53400084del" "" "pathogenic" "" "0000079334" "0" "90" "X" "53432045" "53432045" "subst" "0" "00006" "SMC1A_000052" "g.53432045G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.53405113G>A" "" "pathogenic" "" "0000079589" "21" "90" "X" "53449333" "53681188" "dup" "0" "00006" "HSD17B10_000011" "g.53449333_53681188dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000130189" "0" "70" "X" "53421774" "53421774" "subst" "0" "01758" "SMC1A_000053" "g.53421774G>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.53394854G>C" "" "likely pathogenic" "ACMG" "0000251680" "0" "10" "X" "53430830" "53430830" "subst" "0.0246239" "02326" "SMC1A_000064" "g.53430830A>G" "" "" "" "SMC1A(NM_001281463.1):c.2131-5T>C (p.?), SMC1A(NM_006306.3):c.2197-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53403898A>G" "" "benign" "" "0000298401" "0" "10" "X" "53449568" "53449568" "subst" "0.524123" "02325" "SMC1A_000043" "g.53449568G>A" "" "" "" "SMC1A(NM_006306.4):c.-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53422619G>A" "" "benign" "" "0000298402" "0" "30" "X" "53436366" "53436366" "subst" "0.000509054" "02325" "SMC1A_000067" "g.53436366G>A" "" "" "" "SMC1A(NM_006306.4):c.1323C>T (p.Y441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53409435G>A" "" "likely benign" "" "0000298403" "0" "30" "X" "53439218" "53439218" "subst" "0.000718726" "02325" "SMC1A_000072" "g.53439218G>A" "" "" "" "SMC1A(NM_001281463.1):c.789-15C>T, SMC1A(NM_006306.3):c.855-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53412268G>A" "" "likely benign" "" "0000302352" "0" "30" "X" "53438700" "53438700" "subst" "0.000682922" "02326" "SMC1A_000069" "g.53438700C>G" "" "" "" "SMC1A(NM_006306.3):c.1254+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53411750C>G" "" "likely benign" "" "0000302353" "0" "30" "X" "53438707" "53438707" "subst" "5.59679E-6" "02326" "SMC1A_000070" "g.53438707C>T" "" "" "" "SMC1A(NM_001281463.1):c.1188+4G>A, SMC1A(NM_006306.3):c.1254+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53411757C>T" "" "likely benign" "" "0000302354" "0" "10" "X" "53438649" "53438649" "subst" "0" "02326" "SMC1A_000068" "g.53438649G>T" "" "" "" "SMC1A(NM_006306.3):c.1254+62C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53411699G>T" "" "benign" "" "0000302355" "0" "30" "X" "53435989" "53435989" "subst" "0.000356456" "02326" "SMC1A_000066" "g.53435989T>G" "" "" "" "SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53409058T>G" "" "likely benign" "" "0000302356" "0" "30" "X" "53407996" "53407996" "subst" "0.00145687" "02326" "SMC1A_000055" "g.53407996G>A" "" "" "" "SMC1A(NM_001281463.1):c.3384C>T (p.A1128=), SMC1A(NM_006306.3):c.3450C>T (p.A1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53381075G>A" "" "likely benign" "" "0000302357" "0" "10" "X" "53408940" "53408940" "subst" "0" "02326" "SMC1A_000056" "g.53408940C>T" "" "" "" "SMC1A(NM_006306.3):c.3437+213G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53382019C>T" "" "benign" "" "0000302358" "0" "30" "X" "53440395" "53440395" "subst" "0.00405642" "02326" "SMC1A_000075" "g.53440395G>A" "" "" "" "SMC1A(NM_006306.3):c.412-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53413445G>A" "" "likely benign" "" "0000308623" "0" "50" "X" "53426549" "53426549" "subst" "0" "01943" "SMC1A_000063" "g.53426549C>A" "" "" "" "SMC1A(NM_001281463.1):c.2458G>T (p.V820L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53399627C>A" "" "VUS" "" "0000308624" "0" "30" "X" "53423409" "53423409" "subst" "7.28732E-5" "01943" "SMC1A_000062" "g.53423409T>C" "" "" "" "SMC1A(NM_001281463.1):c.2625A>G (p.K875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53396489T>C" "" "likely benign" "" "0000308625" "0" "30" "X" "53423392" "53423392" "subst" "0" "01943" "SMC1A_000061" "g.53423392T>C" "" "" "" "SMC1A(NM_001281463.1):c.2642A>G (p.K881R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53396472T>C" "" "likely benign" "" "0000308626" "0" "50" "X" "53409507" "53409507" "subst" "0" "01943" "SMC1A_000058" "g.53409507G>A" "" "" "" "SMC1A(NM_001281463.1):c.3139C>T (p.R1047C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53382586G>A" "" "VUS" "" "0000308627" "0" "30" "X" "53407996" "53407996" "subst" "0.00145687" "01943" "SMC1A_000055" "g.53407996G>A" "" "" "" "SMC1A(NM_001281463.1):c.3384C>T (p.A1128=), SMC1A(NM_006306.3):c.3450C>T (p.A1150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53381075G>A" "" "likely benign" "" "0000308628" "0" "50" "X" "53439953" "53439955" "del" "0" "01943" "SMC1A_000073" "g.53439953_53439955del" "" "" "" "SMC1A(NM_001281463.1):c.685_687delAAG (p.K229del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53413003_53413005del" "" "VUS" "" "0000334224" "0" "50" "X" "53409199" "53409199" "subst" "0" "01804" "SMC1A_000057" "g.53409199C>T" "" "" "" "SMC1A(NM_006306.2):c.3391G>A (p.(Gly1131Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53382278C>T" "" "VUS" "" "0000334225" "0" "50" "X" "53421753" "53421753" "subst" "1.12022E-5" "01804" "SMC1A_000060" "g.53421753T>C" "" "" "" "SMC1A(NM_001281463.1):c.2852A>G (p.(Tyr951Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53394833T>C" "" "VUS" "" "0000334226" "0" "50" "X" "53432432" "53432432" "subst" "0" "01804" "SMC1A_000065" "g.53432432C>T" "" "" "" "SMC1A(NM_006306.2):c.1904G>A (p.(Arg635His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53405500C>T" "" "VUS" "" "0000334228" "0" "50" "X" "53438748" "53438748" "subst" "0" "01804" "SMC1A_000071" "g.53438748C>T" "" "" "" "SMC1A(NM_006306.3):c.1217G>A (p.(Arg406His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53411798C>T" "" "VUS" "" "0000334229" "0" "50" "X" "53439997" "53439997" "subst" "0" "01804" "SMC1A_000074" "g.53439997T>C" "" "" "" "SMC1A(NM_001281463.1):c.641A>G (p.(Glu214Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53413047T>C" "" "VUS" "" "0000338378" "0" "90" "X" "53438944" "53438944" "subst" "0" "02327" "SMC1A_000078" "g.53438944C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53411994C>T" "" "pathogenic" "" "0000342142" "0" "70" "X" "53440234" "53440234" "subst" "0" "02327" "SMC1A_000080" "g.53440234C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53413284C>T" "" "likely pathogenic" "" "0000343462" "0" "70" "X" "53423417" "53423417" "subst" "0" "02327" "SMC1A_000077" "g.53423417G>C" "" "" "" "SMC1A(NM_006306.4):c.2683C>G (p.R895G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53396497G>C" "" "likely pathogenic" "" "0000345271" "0" "30" "X" "53439997" "53439997" "subst" "0" "02327" "SMC1A_000074" "g.53439997T>C" "" "" "" "SMC1A(NM_001281463.1):c.641A>G (p.(Glu214Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53413047T>C" "" "likely benign" "" "0000403844" "0" "95" "X" "53436051" "53436051" "subst" "0" "00503" "SMC1A_000004" "g.53436051C>T" "" "" "" "" "increased affinity of SMC hinge dimers for DNA binding" "Unknown" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403845" "1" "35" "X" "53408008" "53408008" "subst" "0" "00124" "SMC1A_000001" "g.53408008G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S1146S" "found once, nonrecurrent change" "Unknown" "" "" "0" "" "" "g.53381087G>A" "" "likely benign" "" "0000403846" "21" "95" "X" "53426579" "53426581" "del" "0" "00006" "SMC1A_000002" "g.53426579_53426581del" "" "{PMID:Musio 2006:16604071}, {OMIM300040:0001}" "" "2493_2495del" "not in >600 control chromosomes: SMC1A protein detectable" "Germline" "" "" "0" "" "" "g.53399657_53399659del" "" "pathogenic (recessive)" "" "0000403847" "1" "95" "X" "53436060" "53436060" "subst" "0" "00006" "SMC1A_000003" "g.53436060T>G" "" "{PMID:Musio 2006:16604071}, {OMIM300040:0002}" "" "" "not in >400 control chromosomes: SMC1A protein detectable" "De novo" "" "" "0" "" "" "g.53409129T>G" "" "pathogenic" "" "0000403848" "0" "95" "X" "53442049" "53442063" "del" "0" "00006" "SMC1A_000005" "g.53442049_53442063del" "" "{PMID:Deardorff 2007:17273969}, {OMIM300040:0003}" "" "173del15" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53415100_53415114del" "" "pathogenic" "" "0000403849" "0" "95" "X" "53441721" "53441721" "subst" "0" "00006" "SMC1A_000006" "g.53441721A>C" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53414772A>C" "" "pathogenic" "" "0000403850" "1" "95" "X" "53440210" "53440210" "subst" "0" "00006" "SMC1A_000007" "g.53440210C>T" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53413260C>T" "" "pathogenic" "" "0000403851" "21" "95" "X" "53436052" "53436052" "subst" "0" "00006" "SMC1A_000008" "g.53436052G>A" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.53409121G>A" "" "pathogenic" "" "0000403852" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Deardorff 2007:17273969}, {OMIM300040:0004}" "" "" "not in 220 control chromosomes; germline and somatic mosaicism in parent" "Germline" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403853" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Deardorff 2007:17273969}, {OMIM300040:0004}" "" "" "not in 220 control chromosomes; germline and somatic mosaicism in parent" "Germline" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403854" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Deardorff 2007:17273969}, {OMIM300040:0004}" "" "" "not in 220 control chromosomes; somatic mosaicism in parent" "Germline" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403855" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Deardorff 2007:17273969}, {OMIM300040:0004}" "" "" "not in 220 control chromosomes; somatic mosaicism in parent" "Germline" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403856" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "Germline" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic" "" "0000403857" "1" "95" "X" "53432009" "53432009" "subst" "0" "00006" "SMC1A_000009" "g.53432009G>A" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53405077G>A" "" "pathogenic" "" "0000403858" "1" "95" "X" "53430549" "53430549" "subst" "0" "00006" "SMC1A_000010" "g.53430549C>T" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53403617C>T" "" "pathogenic" "" "0000403859" "1" "95" "X" "53409226" "53409226" "subst" "0" "00006" "SMC1A_000011" "g.53409226A>G" "" "{PMID:Deardorff 2007:17273969}" "" "" "not in 220 control chromosomes" "De novo" "" "" "0" "" "" "g.53382305A>G" "" "pathogenic" "" "0000403860" "20" "99" "X" "53440210" "53440210" "subst" "0" "01067" "SMC1A_000016" "g.53440210C>T" "" "{PMID:Borck 2007:17221863}" "" "" "not in 120 control chromosomes" "De novo" "" "" "0" "" "" "g.53413260C>T" "" "pathogenic" "" "0000403861" "20" "99" "X" "53409458" "53409458" "subst" "0" "01067" "SMC1A_000015" "g.53409458T>C" "" "{PMID:Borck 2007:17221863}" "" "" "not in 120 control chromosomes" "De novo" "" "" "0" "" "" "g.53382537T>C" "" "pathogenic" "" "0000403862" "20" "77" "X" "53409567" "53409567" "subst" "0" "01067" "SMC1A_000017" "g.53409567G>C" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.53382646G>C" "" "likely pathogenic" "" "0000403863" "20" "77" "X" "53432045" "53432045" "subst" "0" "01067" "SMC1A_000018" "g.53432045G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.53405113G>A" "" "likely pathogenic" "" "0000403864" "0" "77" "X" "53409223" "53409223" "subst" "0" "01067" "SMC1A_000019" "g.53409223G>A" "" "Redeker (unpublished)" "" "" "" "De novo" "" "" "0" "" "" "g.53382302G>A" "" "likely pathogenic" "" "0000403865" "0" "99" "X" "53440376" "53440376" "subst" "0" "01067" "SMC1A_000020" "g.53440376C>T" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53413426C>T" "" "pathogenic" "" "0000403866" "0" "99" "X" "53439908" "53439910" "del" "0" "01067" "SMC1A_000021" "g.53439908_53439910del" "" "{PMID:Liu 2009:19701948}" "" "802_804del3" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53412958_53412960del" "" "pathogenic" "" "0000403867" "0" "99" "X" "53439142" "53439144" "del" "0" "01067" "SMC1A_000022" "g.53439142_53439144del" "" "{PMID:Liu 2009:19701948}" "" "916_918del3" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53412192_53412194del" "" "pathogenic" "" "0000403868" "0" "99" "X" "53438772" "53438772" "subst" "0" "01067" "SMC1A_000023" "g.53438772C>T" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53411822C>T" "" "pathogenic" "" "0000403869" "0" "99" "X" "53432187" "53432189" "del" "0" "01067" "SMC1A_000024" "g.53432187_53432189del" "" "{PMID:Liu 2009:19701948}" "" "2046_2048delAGA" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53405255_53405257del" "" "pathogenic" "" "0000403870" "0" "99" "X" "53432063" "53432063" "subst" "0" "01067" "SMC1A_000025" "g.53432063G>C" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53405131G>C" "" "pathogenic" "" "0000403871" "0" "99" "X" "53430576" "53430576" "subst" "0" "01067" "SMC1A_000026" "g.53430576C>A" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53403644C>A" "" "pathogenic" "" "0000403872" "0" "99" "X" "53426627" "53426627" "subst" "0" "01067" "SMC1A_000027" "g.53426627G>C" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53399705G>C" "" "pathogenic" "" "0000403873" "0" "99" "X" "53409566" "53409566" "subst" "0" "01067" "SMC1A_000028" "g.53409566C>T" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53382645C>T" "" "pathogenic" "" "0000403874" "0" "99" "X" "53409223" "53409223" "subst" "0" "01067" "SMC1A_000019" "g.53409223G>A" "" "{PMID:Liu 2009:19701948}" "" "" "not in >220 control chromosomes" "De novo" "" "" "0" "" "" "g.53382302G>A" "" "pathogenic" "" "0000403875" "21" "77" "X" "53438796" "53438796" "subst" "0" "01067" "SMC1A_000029" "g.53438796G>T" "" "Redeker (unpublished)" "" "" "inherited from mildly affected mother" "Germline" "" "" "0" "" "" "g.53411846G>T" "" "likely pathogenic" "" "0000403876" "0" "77" "X" "53449519" "53449519" "subst" "0" "01067" "SMC1A_000030" "g.53449519T>A" "" "Redeker (unpublished)" "" "" "not in >200 control chromosomes" "De novo" "" "" "0" "" "" "g.53422570T>A" "" "likely pathogenic" "" "0000403877" "0" "97" "X" "53432008" "53432008" "subst" "0" "01067" "SMC1A_000031" "g.53432008C>T" "" "{PMID:Pié 2010:20358602}" "" "2132G>A" "not in 100 control alleles" "De novo" "" "" "0" "" "" "g.53405076C>T" "" "pathogenic" "" "0000403878" "0" "97" "X" "53439908" "53439910" "del" "0" "01067" "SMC1A_000021" "g.53439908_53439910del" "" "{PMID:Pié 2010:20358602}" "" "802_804delAAG" "not in 100 control alleles" "De novo" "" "" "0" "" "" "g.53412958_53412960del" "" "pathogenic" "" "0000403879" "0" "97" "X" "53440210" "53440210" "subst" "0" "01067" "SMC1A_000007" "g.53440210C>T" "" "{PMID:Pié 2010:20358602}" "" "587G>A" "" "De novo" "" "" "0" "" "" "g.53413260C>T" "" "pathogenic" "" "0000403880" "0" "97" "X" "53430567" "53430567" "subst" "0" "01067" "SMC1A_000032" "g.53430567A>G" "" "{PMID:Limongelli 2010:20635401}" "" "" "" "De novo" "" "" "0" "" "" "g.53403635A>G" "" "pathogenic" "" "0000403881" "0" "99" "X" "53432284" "53432284" "subst" "0" "01067" "SMC1A_000034" "g.53432284C>T" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53405352C>T" "" "pathogenic" "" "0000403882" "0" "99" "X" "53442049" "53442063" "del" "0" "01067" "SMC1A_000005" "g.53442049_53442063del" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53415100_53415114del" "" "pathogenic" "" "0000403883" "0" "99" "X" "53438773" "53438773" "subst" "0" "01067" "SMC1A_000035" "g.53438773G>C" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53411823G>C" "" "pathogenic" "" "0000403884" "0" "99" "X" "53432062" "53432062" "subst" "0" "01067" "SMC1A_000036" "g.53432062C>T" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53405130C>T" "" "pathogenic" "" "0000403885" "0" "99" "X" "53430567" "53430567" "subst" "0" "01067" "SMC1A_000037" "g.53430567A>G" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53403635A>G" "" "pathogenic" "" "0000403886" "0" "99" "X" "53430549" "53430549" "subst" "0" "01067" "SMC1A_000038" "g.53430549C>T" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53403617C>T" "" "pathogenic" "" "0000403887" "0" "99" "X" "53407949" "53407949" "subst" "0" "01067" "SMC1A_000039" "g.53407949T>G" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53381028T>G" "" "pathogenic" "" "0000403888" "0" "99" "X" "53407594" "53407594" "subst" "0" "01067" "SMC1A_000040" "g.53407594G>A" "" "{PMID:Gervasini 2013:24124034}" "" "" "" "De novo" "" "" "0" "" "" "g.53380673G>A" "" "pathogenic" "" "0000403889" "0" "77" "X" "53432280" "53432280" "subst" "0" "01067" "SMC1A_000041" "g.53432280A>T" "" "Redeker (unpublished)" "" "" "" "Unknown" "" "" "0" "" "" "g.53405348A>T" "" "likely pathogenic" "" "0000403890" "0" "99" "X" "53426627" "53426627" "subst" "0" "01067" "SMC1A_000027" "g.53426627G>C" "" "Redeker (unpublished)" "" "" "" "Unknown" "" "" "0" "" "" "g.53399705G>C" "" "pathogenic" "" "0000403891" "21" "77" "X" "53432298" "53432298" "subst" "0" "00714" "SMC1A_000033" "g.53432298A>G" "" "{PMID:Tzschach 2015:25649377}" "" "" "mother skewed X-inactivation (96:4)" "Germline" "" "" "0" "" "" "g.53405366A>G" "" "likely pathogenic" "" "0000403892" "1" "55" "X" "53449568" "53449568" "subst" "0.524123" "00006" "SMC1A_000012" "g.53449568G>A" "0.14-0.64" "" "" "" "" "Germline" "" "rs1264011" "0" "" "" "g.53422619G>A" "" "VUS" "" "0000403893" "1" "55" "X" "53407063" "53407063" "subst" "5.68964E-6" "00006" "SMC1A_000014" "g.53407063G>C" "0.00-0.01" "" "" "" "" "Germline" "" "rs28997583" "0" "" "" "g.53380142G>C" "" "VUS" "" "0000403894" "1" "55" "X" "53449468" "53449468" "subst" "0" "00006" "SMC1A_000013" "g.53449468T>G" "0.00-0.10" "" "" "" "" "Germline" "" "rs34530151" "0" "" "" "g.53422519T>G" "" "VUS" "" "0000403895" "1" "95" "X" "53436060" "53436060" "subst" "0" "00006" "SMC1A_000003" "g.53436060T>G" "" "{PMID:Revenkova 2009:18996922}, {OMIM300040:0002}" "" "" "increased affinity of SMC hinge dimers for DNA binding" "In vitro (cloned)" "" "" "0" "" "" "g.53409129T>G" "" "NA" "" "0000403896" "1" "95" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Revenkova 2009:18996922}, {OMIM300040:0004}" "" "" "increased affinity of SMC hinge dimers for DNA binding" "In vitro (cloned)" "" "" "0" "" "" "g.53409120C>T" "" "NA" "" "0000478226" "3" "50" "X" "53432041" "53432041" "subst" "0" "01807" "SMC1A_000081" "g.53432041T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.53405109T>G" "" "VUS" "" "0000576604" "0" "50" "X" "53407026" "53407026" "subst" "0" "02327" "SMC1A_000082" "g.53407026A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53380105A>G" "" "VUS" "" "0000576605" "0" "10" "X" "53421681" "53421682" "del" "4.64479E-5" "02326" "SMC1A_000083" "g.53421681_53421682del" "" "" "" "SMC1A(NM_006306.3):c.2973+16_2973+17delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53394761_53394762del" "" "benign" "" "0000576606" "0" "30" "X" "53423185" "53423185" "subst" "0.000442243" "02326" "SMC1A_000084" "g.53423185G>A" "" "" "" "SMC1A(NM_001281463.1):c.2758C>T (p.L920=), SMC1A(NM_006306.3):c.2824C>T (p.L942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53396265G>A" "" "likely benign" "" "0000576607" "0" "50" "X" "53423512" "53423512" "subst" "0" "02326" "SMC1A_000085" "g.53423512A>T" "" "" "" "SMC1A(NM_006306.3):c.2588T>A (p.I863K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53396592A>T" "" "VUS" "" "0000576608" "0" "30" "X" "53432337" "53432337" "subst" "0.000102675" "02326" "SMC1A_000086" "g.53432337G>A" "" "" "" "SMC1A(NM_006306.3):c.1912-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53405405G>A" "" "likely benign" "" "0000576609" "0" "30" "X" "53432548" "53432548" "subst" "1.11937E-5" "02326" "SMC1A_000087" "g.53432548A>G" "" "" "" "SMC1A(NM_006306.3):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53405616A>G" "" "likely benign" "" "0000576610" "0" "10" "X" "53432736" "53432736" "subst" "0.00121118" "01943" "SMC1A_000088" "g.53432736C>T" "" "" "" "SMC1A(NM_001281463.1):c.1632G>A (p.E544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53405804C>T" "" "benign" "" "0000576611" "0" "30" "X" "53436405" "53436405" "subst" "0" "01943" "SMC1A_000089" "g.53436405A>C" "" "" "" "SMC1A(NM_001281463.1):c.1218T>G (p.I406M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53409474A>C" "" "likely benign" "" "0000576613" "0" "30" "X" "53439218" "53439218" "subst" "0.000718726" "02326" "SMC1A_000072" "g.53439218G>A" "" "" "" "SMC1A(NM_001281463.1):c.789-15C>T, SMC1A(NM_006306.3):c.855-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53412268G>A" "" "likely benign" "" "0000576616" "0" "70" "X" "53440240" "53440240" "subst" "0" "02327" "SMC1A_000092" "g.53440240T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53413290T>C" "" "likely pathogenic" "" "0000576619" "0" "30" "X" "53448859" "53448859" "subst" "0" "01804" "RIBC1_000006" "g.53448859T>G" "" "" "" "SMC1A(NM_001281463.1):c.29A>C (p.(His10Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000576620" "0" "30" "X" "53448866" "53448866" "subst" "0" "01943" "RIBC1_000007" "g.53448866T>G" "" "" "" "SMC1A(NM_001281463.1):c.22A>C (p.T8P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000576622" "0" "10" "X" "53449338" "53449338" "dup" "0" "02326" "RIBC1_000008" "g.53449338dup" "" "" "" "SMC1A(NM_006306.3):c.109+103dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53422386dup" "" "benign" "" "0000604426" "0" "70" "X" "53439920" "53439920" "subst" "0" "03512" "SMC1A_000093" "g.53439920C>A" "" "{PMID:Minardi 2020:32725632}" "" "" "" "De novo" "" "" "0" "" "" "g.53412970C>A" "" "pathogenic" "" "0000619697" "0" "70" "X" "53409235" "53409235" "subst" "0" "02327" "SMC1A_000094" "g.53409235C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53382314C>T" "" "likely pathogenic" "" "0000619698" "0" "30" "X" "53423185" "53423185" "subst" "0.000442243" "01943" "SMC1A_000084" "g.53423185G>A" "" "" "" "SMC1A(NM_001281463.1):c.2758C>T (p.L920=), SMC1A(NM_006306.3):c.2824C>T (p.L942=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53396265G>A" "" "likely benign" "" "0000619699" "0" "30" "X" "53430830" "53430830" "subst" "0.0246239" "01804" "SMC1A_000064" "g.53430830A>G" "" "" "" "SMC1A(NM_001281463.1):c.2131-5T>C (p.?), SMC1A(NM_006306.3):c.2197-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53403898A>G" "" "likely benign" "" "0000619701" "0" "50" "X" "53440199" "53440199" "subst" "0" "01943" "SMC1A_000095" "g.53440199T>G" "" "" "" "SMC1A(NM_001281463.1):c.532A>C (p.K178Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53413249T>G" "" "VUS" "" "0000659381" "0" "30" "X" "53432569" "53432569" "subst" "0" "01943" "SMC1A_000097" "g.53432569C>T" "" "" "" "SMC1A(NM_001281463.1):c.1701G>A (p.K567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53405637C>T" "" "likely benign" "" "0000659382" "0" "30" "X" "53432886" "53432886" "subst" "2.80639E-5" "01804" "SMC1A_000098" "g.53432886G>A" "" "" "" "SMC1A(NM_001281463.1):c.1482C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53405954G>A" "" "likely benign" "" "0000659383" "0" "70" "X" "53449458" "53449458" "subst" "0" "02327" "RIBC1_000009" "g.53449458A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53422509A>G" "" "likely pathogenic" "" "0000667470" "0" "90" "X" "53430567" "53430567" "subst" "0" "00006" "SMC1A_000032" "g.53430567A>G" "" "{PMID:Fieremans 2016:27159028}" "" "" "RNA expression both allele" "De novo" "" "" "0" "skewed X-inactivation 0:1, skewed X-inactivation (93:7 pat:mat)" "" "g.53403635A>G" "" "pathogenic" "" "0000667582" "0" "70" "X" "53407607" "53407610" "dup" "0" "00006" "SMC1A_000099" "g.53407607_53407610dup" "" "{PMID:Helbig 2016:26795593}" "" "3549_3552dupGGCC" "" "De novo" "" "" "0" "" "" "g.53380686_53380689dup" "" "likely pathogenic (dominant)" "ACMG" "0000682511" "0" "30" "X" "53410049" "53410049" "subst" "0" "01943" "SMC1A_000100" "g.53410049A>G" "" "" "" "SMC1A(NM_001281463.1):c.3033T>C (p.S1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682512" "0" "50" "X" "53430529" "53430529" "subst" "0" "02325" "SMC1A_000101" "g.53430529C>T" "" "" "" "SMC1A(NM_001281463.1):c.2323G>A (p.V775M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682513" "0" "30" "X" "53438846" "53438846" "subst" "1.11965E-5" "01943" "SMC1A_000102" "g.53438846C>T" "" "" "" "SMC1A(NM_001281463.1):c.1053G>A (p.K351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693659" "0" "30" "X" "53432473" "53432473" "subst" "2.24195E-5" "02326" "SMC1A_000103" "g.53432473G>A" "" "" "" "SMC1A(NM_001281463.1):c.1797C>T (p.N599=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693660" "0" "30" "X" "53435989" "53435989" "subst" "0.000356456" "02325" "SMC1A_000066" "g.53435989T>G" "" "" "" "SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698374" "0" "50" "X" "53438730" "53438730" "subst" "0" "00006" "SMC1A_000104" "g.53438730C>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.53411780C>T" "" "VUS" "ACMG" "0000704177" "0" "70" "X" "53430498" "53430498" "subst" "0" "01807" "SMC1A_000105" "g.53430498C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000729037" "0" "50" "X" "53421723" "53421723" "subst" "0" "02329" "SMC1A_000059" "g.53421723T>C" "" "" "" "SMC1A(NM_001281463.1):c.2882A>G (p.Y961C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729038" "0" "50" "X" "53440303" "53440303" "subst" "0" "02329" "SMC1A_000096" "g.53440303G>A" "" "" "" "SMC1A(NM_001281463.1):c.428C>T (p.A143V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729039" "0" "30" "X" "53441746" "53441746" "subst" "2.23785E-5" "01943" "SMC1A_000106" "g.53441746C>G" "" "" "" "SMC1A(NM_001281463.1):c.306G>C (p.L102F), SMC1A(NM_006306.4):c.372G>C (p.L124F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787050" "0" "70" "X" "53430526" "53430526" "del" "0" "00006" "SMC1A_000108" "g.53430526del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.2394delA" "" "Germline" "" "" "0" "" "" "g.53403594del" "" "likely pathogenic" "" "0000787051" "0" "70" "X" "53409279" "53409286" "del" "0" "00006" "SMC1A_000107" "g.53409279_53409286del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.53382358_53382365del" "" "likely pathogenic" "" "0000810519" "0" "30" "X" "53435989" "53435989" "subst" "0.000356456" "01943" "SMC1A_000066" "g.53435989T>G" "" "" "" "SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810520" "0" "30" "X" "53438792" "53438792" "subst" "0.000593097" "01943" "SMC1A_000109" "g.53438792C>T" "" "" "" "SMC1A(NM_001281463.1):c.1107G>A (p.Q369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810521" "0" "70" "X" "53438824" "53438824" "subst" "0" "02329" "SMC1A_000110" "g.53438824C>T" "" "" "" "SMC1A(NM_001281463.1):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000812991" "0" "90" "X" "53432018" "53432018" "del" "0" "03779" "SMC1A_000111" "g.53432018del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000836997" "0" "70" "X" "53432045" "53432045" "subst" "0" "02494" "SMC1A_000018" "g.53432045G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000856696" "0" "70" "X" "53409228" "53409228" "subst" "0" "02325" "SMC1A_000112" "g.53409228C>T" "" "" "" "SMC1A(NM_006306.4):c.3362G>A (p.R1121H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856697" "0" "30" "X" "53441746" "53441746" "subst" "2.23785E-5" "02325" "SMC1A_000106" "g.53441746C>G" "" "" "" "SMC1A(NM_001281463.1):c.306G>C (p.L102F), SMC1A(NM_006306.4):c.372G>C (p.L124F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867459" "0" "50" "X" "53421817" "53421817" "subst" "0" "01943" "SMC1A_000113" "g.53421817G>C" "" "" "" "SMC1A(NM_001281463.1):c.2797-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867460" "0" "30" "X" "53438707" "53438707" "subst" "5.59679E-6" "01943" "SMC1A_000070" "g.53438707C>T" "" "" "" "SMC1A(NM_001281463.1):c.1188+4G>A, SMC1A(NM_006306.3):c.1254+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000871142" "0" "90" "X" "53423489" "53423489" "subst" "0" "00006" "SMC1A_000114" "g.53423489G>A" "" "{PMID:Halvardson 2016:27334371}" "" "C2611T (Q871X)" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000896293" "0" "50" "X" "53407105" "53407105" "subst" "0" "01943" "SMC1A_000115" "g.53407105T>A" "" "" "" "SMC1A(NM_001281463.1):c.3555A>T (p.Q1185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927398" "0" "50" "X" "53432756" "53432756" "subst" "0" "02325" "SMC1A_000116" "g.53432756T>C" "" "" "" "SMC1A(NM_006306.4):c.1678A>G (p.I560V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000933236" "21" "70" "X" "53442107" "53442107" "subst" "0" "00006" "SMC1A_000120" "g.53442107G>A" "" "{PMID:Yuan 2019:30158690}" "" "C121T" "" "Germline" "" "" "0" "" "" "g.53415158G>A" "" "likely pathogenic" "" "0000933237" "21" "70" "X" "53442107" "53442107" "subst" "0" "00006" "SMC1A_000120" "g.53442107G>A" "" "{PMID:Yuan 2019:30158690}" "" "C121T" "" "Germline" "" "" "0" "" "" "g.53415158G>A" "" "likely pathogenic" "" "0000933238" "0" "70" "X" "53439900" "53439902" "del" "0" "00006" "SMC1A_000021" "g.53439900_53439902del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53412950_53412952del" "" "likely pathogenic" "" "0000933239" "0" "70" "X" "53410176" "53410176" "subst" "0" "00006" "SMC1A_000118" "g.53410176T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53383255T>C" "" "likely pathogenic" "" "0000933240" "0" "70" "X" "53431979" "53431979" "subst" "0" "00006" "SMC1A_000119" "g.53431979G>A" "" "{PMID:Yuan 2019:30158690}" "" "C2161T" "" "De novo" "" "" "0" "" "" "g.53405047G>A" "" "likely pathogenic" "" "0000933241" "0" "70" "X" "53409561" "53409561" "subst" "0" "00006" "SMC1A_000117" "g.53409561G>A" "" "{PMID:Yuan 2019:30158690}" "" "C3151T" "" "De novo" "" "" "0" "" "" "g.53382640G>A" "" "likely pathogenic" "" "0000933253" "0" "70" "X" "53442118" "53442118" "subst" "0" "00006" "SMC1A_000131" "g.53442118C>A" "" "{PMID:Yuan 2019:30158690}" "" "G110T" "" "De novo" "" "" "0" "" "" "g.53415169C>A" "" "likely pathogenic (dominant)" "" "0000933254" "0" "90" "X" "53442112" "53442112" "subst" "0" "00006" "SMC1A_000130" "g.53442112G>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53415163G>C" "" "pathogenic (dominant)" "" "0000933255" "0" "70" "X" "53442100" "53442100" "subst" "0" "00006" "SMC1A_000129" "g.53442100T>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53415151T>A" "" "likely pathogenic (dominant)" "" "0000933256" "0" "70" "X" "53442088" "53442088" "subst" "0" "00006" "SMC1A_000128" "g.53442088A>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53415139A>C" "" "likely pathogenic (dominant)" "" "0000933257" "0" "70" "X" "53441930" "53441930" "subst" "0" "00006" "SMC1A_000127" "g.53441930C>G" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53414981C>G" "" "likely pathogenic (dominant)" "" "0000933258" "0" "70" "X" "53440211" "53440211" "subst" "0" "00006" "SMC1A_000126" "g.53440211G>A" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53413261G>A" "" "likely pathogenic (dominant)" "" "0000933259" "0" "90" "X" "53440051" "53440051" "del" "0" "00006" "SMC1A_000125" "g.53440051del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53413101del" "" "pathogenic (dominant)" "" "0000933260" "0" "90" "X" "53439908" "53439910" "del" "0" "00006" "SMC1A_000021" "g.53439908_53439910del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53412950_53412952del" "" "pathogenic (dominant)" "" "0000933261" "0" "90" "X" "53436051" "53436051" "subst" "0" "00006" "SMC1A_000004" "g.53436051C>T" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53409120C>T" "" "pathogenic (dominant)" "" "0000933262" "0" "90" "X" "53430526" "53430526" "dup" "0" "00006" "SMC1A_000123" "g.53430526dup" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53403594dup" "" "pathogenic (dominant)" "" "0000933263" "0" "70" "X" "53430498" "53430498" "subst" "0" "00006" "SMC1A_000105" "g.53430498C>T" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53403566C>T" "" "likely pathogenic (dominant)" "" "0000933264" "0" "90" "X" "53426526" "53426526" "del" "0" "00006" "SMC1A_000122" "g.53426526del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53399604del" "" "pathogenic (dominant)" "" "0000933265" "0" "90" "X" "53423155" "53423158" "del" "0" "00006" "SMC1A_000121" "g.53423155_53423158del" "" "{PMID:Yuan 2019:30158690}" "" "" "" "De novo" "" "" "0" "" "" "g.53396235_53396238del" "" "pathogenic (dominant)" "" "0000933266" "21" "90" "X" "53438853" "53438853" "subst" "0" "00006" "SMC1A_000124" "g.53438853T>C" "" "{PMID:Yuan 2019:30158690}" "" "" "" "Germline" "" "" "0" "" "" "g.53411903T>C" "" "pathogenic (dominant)" "" "0000935908" "0" "70" "X" "53440190" "53440190" "subst" "0" "00006" "SMC1A_000133" "g.53440190T>C" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PS2,PM2,PM6,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.53413240T>C" "" "likely pathogenic" "ACMG" "0000936270" "0" "50" "X" "53407981" "53407981" "subst" "0" "00006" "SMC1A_000132" "g.53407981C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006306:c.G3465A (L1155L)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000945929" "0" "70" "X" "53439979" "53439979" "subst" "0" "03779" "SMC1A_000134" "g.53439979A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000954124" "0" "70" "X" "53440211" "53440211" "subst" "0" "01164" "SMC1A_000126" "g.53440211G>A" "" "PMID: 30158690" "" "" "ACMG: PS2_MOD, PS4_MOD, PM5, PP3_MOD, PM2_SUP, PP2" "Germline" "?" "" "" "" "" "g.53413261G>A" "VCV000159961.6" "pathogenic (dominant)" "ACMG" "0000971187" "0" "90" "X" "53423417" "53423417" "subst" "0" "02325" "SMC1A_000077" "g.53423417G>C" "" "" "" "SMC1A(NM_006306.4):c.2683C>G (p.R895G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000971188" "0" "90" "X" "53432858" "53432858" "subst" "0" "02329" "SMC1A_000135" "g.53432858T>G" "" "" "" "SMC1A(NM_006306.3):c.1576A>C (p.T526P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001006854" "0" "50" "X" "53409512" "53409512" "subst" "0" "01804" "SMC1A_000136" "g.53409512A>T" "" "" "" "SMC1A(NM_006306.3):c.3200T>A (p.(Phe1067Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006855" "0" "50" "X" "53436177" "53436177" "subst" "0" "01804" "SMC1A_000137" "g.53436177T>C" "" "" "" "SMC1A(NM_006306.3):c.1361A>G (p.(Lys454Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022044" "0" "70" "X" "53432265" "53432267" "del" "0" "03779" "SMC1A_000138" "g.53432265_53432267del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001027517" "0" "70" "X" "53430550" "53430550" "subst" "0" "01943" "SMC1A_000139" "g.53430550G>A" "" "" "" "SMC1A(NM_001281463.1):c.2302C>T (p.R768W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027518" "0" "30" "X" "53440005" "53440005" "subst" "0.00131767" "01943" "SMC1A_000140" "g.53440005C>T" "" "" "" "SMC1A(NM_001281463.1):c.633G>A (p.V211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044408" "0" "50" "X" "53423406" "53423406" "subst" "5.60764E-6" "01804" "SMC1A_000149" "g.53423406G>A" "" "" "" "SMC1A(NM_006306.4):c.2694C>T (p.(Leu898=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044409" "0" "30" "X" "53436377" "53436377" "subst" "0" "01804" "SMC1A_000150" "g.53436377G>A" "" "" "" "SMC1A(NM_006306.4):c.1312C>T (p.(Leu438=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057336" "0" "30" "X" "53440218" "53440218" "subst" "7.83699E-5" "01804" "SMC1A_000151" "g.53440218C>T" "" "" "" "SMC1A(NM_006306.4):c.579G>A (p.(Ala193=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001059194" "0" "90" "X" "53436174" "53436174" "subst" "0" "00006" "SMC1A_000153" "g.53436174A>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.53409243A>G" "" "pathogenic" "" "0001059195" "0" "90" "X" "53438815" "53438815" "subst" "0" "00006" "SMC1A_000154" "g.53438815T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.53411865T>C" "" "pathogenic" "" "0001059196" "0" "70" "X" "53430824" "53430824" "dup" "0" "00006" "SMC1A_000152" "g.53430824dup" "" "{PMID:Retterer 2016:26633542}" "" "2202dupA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.53403892dup" "" "likely pathogenic" "" ## 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 SMC1A ## Count = 175 "{{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}}" "0000002987" "00001074" "30" "109" "104" "109" "104" "c.109+104dup" "r.(=)" "p.(=)" "1i" "0000006927" "00001074" "50" "1338" "-32" "1338" "-32" "c.1338-32C>A" "r.(spl?)" "p.(=)" "8i" "0000006928" "00001074" "30" "-19" "0" "-19" "0" "c.-19C>T" "r.(=)" "p.(=)" "1" "0000009005" "00001074" "50" "1338" "-32" "1338" "-32" "c.1338-32C>A" "r.(=)" "p.(=)" "8i" "0000009007" "00001074" "30" "-19" "0" "-19" "0" "c.-19C>T" "r.(=)" "p.(=)" "1" "0000010979" "00001074" "30" "109" "104" "109" "104" "c.109+104dup" "r.(=)" "p.(=)" "1i" "0000040309" "00001074" "90" "2364" "0" "2364" "0" "c.2364del" "r.(?)" "p.(Asn788Lysfs*10)" "14" "0000046779" "00001074" "90" "2421" "-352" "2563" "-1354" "c.2421-352_2563-1354del" "r.?" "p.?" "15i_16i" "0000079334" "00001074" "00" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Arg699Cys)" "" "0000079589" "00001074" "00" "-231639" "0" "109" "108" "c.-231639_109+108dup" "r.0" "p.0" "" "0000130189" "00001074" "70" "2897" "0" "2897" "0" "c.2897C>G" "r.(?)" "p.(Ser966*)" "" "0000251680" "00001074" "10" "2197" "-5" "2197" "-5" "c.2197-5T>C" "r.spl?" "p.?" "" "0000298401" "00001074" "10" "-19" "0" "-19" "0" "c.-19C>T" "r.(?)" "p.(=)" "" "0000298402" "00001074" "30" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(Tyr441=)" "" "0000298403" "00001074" "30" "855" "-15" "855" "-15" "c.855-15C>T" "r.(=)" "p.(=)" "" "0000302352" "00001074" "30" "1254" "11" "1254" "11" "c.1254+11G>C" "r.(=)" "p.(=)" "" "0000302353" "00001074" "30" "1254" "4" "1254" "4" "c.1254+4G>A" "r.spl?" "p.?" "" "0000302354" "00001074" "10" "1254" "62" "1254" "62" "c.1254+62C>A" "r.(=)" "p.(=)" "" "0000302355" "00001074" "30" "1545" "4" "1545" "4" "c.1545+4A>C" "r.spl?" "p.?" "" "0000302356" "00001074" "30" "3450" "0" "3450" "0" "c.3450C>T" "r.(?)" "p.(Ala1150=)" "" "0000302357" "00001074" "10" "3437" "213" "3437" "213" "c.3437+213G>A" "r.(=)" "p.(=)" "" "0000302358" "00001074" "30" "412" "-10" "412" "-10" "c.412-10C>T" "r.(=)" "p.(=)" "" "0000308623" "00001074" "50" "2524" "0" "2524" "0" "c.2524G>T" "r.(?)" "p.(Val842Leu)" "" "0000308624" "00001074" "30" "2691" "0" "2691" "0" "c.2691A>G" "r.(?)" "p.(Lys897=)" "" "0000308625" "00001074" "30" "2708" "0" "2708" "0" "c.2708A>G" "r.(?)" "p.(Lys903Arg)" "" "0000308626" "00001074" "50" "3205" "0" "3205" "0" "c.3205C>T" "r.(?)" "p.(Arg1069Cys)" "" "0000308627" "00001074" "30" "3450" "0" "3450" "0" "c.3450C>T" "r.(?)" "p.(Ala1150=)" "" "0000308628" "00001074" "50" "751" "0" "753" "0" "c.751_753del" "r.(?)" "p.(Lys251del)" "" "0000334224" "00001074" "50" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.(Gly1131Arg)" "" "0000334225" "00001074" "50" "2918" "0" "2918" "0" "c.2918A>G" "r.(?)" "p.(Tyr973Cys)" "" "0000334226" "00001074" "50" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Arg635His)" "" "0000334228" "00001074" "50" "1217" "0" "1217" "0" "c.1217G>A" "r.(?)" "p.(Arg406His)" "" "0000334229" "00001074" "50" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Glu236Gly)" "" "0000338378" "00001074" "90" "1113" "1" "1113" "1" "c.1113+1G>A" "r.spl?" "p.?" "" "0000342142" "00001074" "70" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188His)" "" "0000343462" "00001074" "70" "2683" "0" "2683" "0" "c.2683C>G" "r.(?)" "p.(Arg895Gly)" "" "0000345271" "00001074" "30" "707" "0" "707" "0" "c.707A>G" "r.(?)" "p.(Glu236Gly)" "" "0000403844" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403845" "00001074" "35" "3438" "0" "3438" "0" "c.3438C>T" "r.spl?" "p.(Ser1146=)" "23" "0000403846" "00001074" "95" "2493" "0" "2495" "0" "c.2493_2495del" "r.(?)" "p.(Asp831_Gln832delinsGlu)" "16" "0000403847" "00001074" "95" "1478" "0" "1478" "0" "c.1478A>C" "r.(?)" "p.(Glu493Ala)" "9" "0000403848" "00001074" "95" "173" "0" "187" "0" "c.173_187del" "r.(?)" "p.(Val58_Arg62del)" "2" "0000403849" "00001074" "95" "397" "0" "397" "0" "c.397T>G" "r.(?)" "p.(Phe133Val)" "3" "0000403850" "00001074" "95" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196His)" "4" "0000403851" "00001074" "95" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Cys)" "9" "0000403852" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403853" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403854" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403855" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403856" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000403857" "00001074" "95" "2131" "0" "2131" "0" "c.2131C>T" "r.(?)" "p.(Arg711Trp)" "13" "0000403858" "00001074" "95" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Arg790Gln)" "15" "0000403859" "00001074" "95" "3364" "0" "3364" "0" "c.3364T>C" "r.(?)" "p.(Phe1122Leu)" "22" "0000403860" "00001074" "99" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196His)" "4" "0000403861" "00001074" "99" "3254" "0" "3254" "0" "c.3254A>G" "r.(?)" "p.(Tyr1085Cys)" "21" "0000403862" "00001074" "77" "3145" "0" "3145" "0" "c.3145C>G" "r.(?)" "p.(Arg1049Gly)" "21" "0000403863" "00001074" "77" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Arg699Cys)" "13" "0000403864" "00001074" "77" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Trp)" "22" "0000403865" "00001074" "99" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Glu141Lys)" "3" "0000403866" "00001074" "99" "802" "0" "804" "0" "c.802_804del" "r.(?)" "p.(Lys268del)" "5" "0000403867" "00001074" "99" "916" "0" "918" "0" "c.916_918del" "r.(?)" "p.(Ser306del)" "5" "0000403868" "00001074" "99" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398Gln)" "7" "0000403869" "00001074" "99" "2046" "0" "2048" "0" "c.2046_2048del" "r.(?)" "p.(Glu684del)" "12" "0000403870" "00001074" "99" "2077" "0" "2077" "0" "c.2077C>G" "r.(?)" "p.(Arg693Gly)" "12" "0000403871" "00001074" "99" "2342" "0" "2342" "0" "c.2342G>T" "r.(?)" "p.(Cys781Phe)" "14" "0000403872" "00001074" "99" "2446" "0" "2446" "0" "c.2446C>G" "r.(?)" "p.(Arg816Gly)" "15" "0000403873" "00001074" "99" "3146" "0" "3146" "0" "c.3146G>A" "r.(?)" "p.(Arg1049Gln)" "21" "0000403874" "00001074" "99" "3367" "0" "3367" "0" "c.3367C>T" "r.(?)" "p.(Arg1123Trp)" "22" "0000403875" "00001074" "77" "1169" "0" "1169" "0" "c.1169C>A" "r.(?)" "p.(Ala390Asp)" "7" "0000403876" "00001074" "77" "31" "0" "31" "0" "c.31A>T" "r.(?)" "p.(Asn11Tyr)" "1" "0000403877" "00001074" "97" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Arg711Gln)" "13" "0000403878" "00001074" "97" "802" "0" "804" "0" "c.802_804del" "r.(?)" "p.(Lys268del)" "5" "0000403879" "00001074" "97" "587" "0" "587" "0" "c.587G>A" "r.(?)" "p.(Arg196His)" "4" "0000403880" "00001074" "97" "2351" "0" "2351" "0" "c.2351T>C" "r.(?)" "p.(Ile784Thr)" "15" "0000403881" "00001074" "99" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Val651Met)" "12" "0000403882" "00001074" "99" "173" "0" "187" "0" "c.173_187del" "r.(?)" "p.(Val58_Arg62del)" "2" "0000403883" "00001074" "99" "1192" "0" "1192" "0" "c.1192C>G" "r.(?)" "p.(Arg398Gly)" "7" "0000403884" "00001074" "99" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Arg693Gln)" "13" "0000403885" "00001074" "99" "2351" "0" "2351" "0" "c.2351T>C" "r.(?)" "p.(Ile784Thr)" "15" "0000403886" "00001074" "99" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Arg790Gln)" "15" "0000403887" "00001074" "99" "3497" "0" "3497" "0" "c.3497A>C" "r.(?)" "p.(Asn1166Thr)" "23" "0000403888" "00001074" "99" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Leu1189Phe)" "24" "0000403889" "00001074" "77" "1955" "0" "1955" "0" "c.1955T>A" "r.(?)" "p.(Ile652Asn)" "12" "0000403890" "00001074" "99" "2446" "0" "2446" "0" "c.2446C>G" "r.(?)" "p.(Arg816Gly)" "16" "0000403891" "00001074" "77" "1937" "0" "1937" "0" "c.1937T>C" "r.(?)" "p.(Phe646Ser)" "12" "0000403892" "00001074" "55" "-19" "0" "-19" "0" "c.-19C>T" "r.(?)" "p.(=)" "1" "0000403893" "00001074" "55" "3663" "0" "3663" "0" "c.3663C>G" "r.(?)" "p.(=)" "25" "0000403894" "00001074" "55" "82" "0" "82" "0" "c.82A>C" "r.(?)" "p.Thr28Pro" "1" "0000403895" "00001074" "95" "1478" "0" "1478" "0" "c.1478A>C" "r.(?)" "p.Glu493Ala" "9" "0000403896" "00001074" "95" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.Arg496His" "9" "0000478226" "00001074" "50" "2099" "0" "2099" "0" "c.2099A>C" "r.(?)" "p.(Gln700Pro)" "" "0000576604" "00001074" "50" "3700" "0" "3700" "0" "c.3700T>C" "r.(?)" "p.(Ter1234GlnextTer44)" "" "0000576605" "00001074" "10" "2973" "16" "2973" "17" "c.2973+16_2973+17del" "r.(=)" "p.(=)" "" "0000576606" "00001074" "30" "2824" "0" "2824" "0" "c.2824C>T" "r.(?)" "p.(Leu942=)" "" "0000576607" "00001074" "50" "2588" "0" "2588" "0" "c.2588T>A" "r.(?)" "p.(Ile863Lys)" "" "0000576608" "00001074" "30" "1912" "-14" "1912" "-14" "c.1912-14C>T" "r.(=)" "p.(=)" "" "0000576609" "00001074" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Asp596=)" "" "0000576610" "00001074" "10" "1698" "0" "1698" "0" "c.1698G>A" "r.(?)" "p.(Glu566=)" "" "0000576611" "00001074" "30" "1284" "0" "1284" "0" "c.1284T>G" "r.(?)" "p.(Ile428Met)" "" "0000576613" "00001074" "30" "855" "-15" "855" "-15" "c.855-15C>T" "r.(=)" "p.(=)" "" "0000576616" "00001074" "70" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(Tyr186Cys)" "" "0000576619" "00001074" "30" "109" "582" "109" "582" "c.109+582A>C" "r.(=)" "p.(=)" "" "0000576620" "00001074" "30" "109" "575" "109" "575" "c.109+575A>C" "r.(=)" "p.(=)" "" "0000576622" "00001074" "10" "109" "104" "109" "104" "c.109+104dup" "r.(=)" "p.(=)" "" "0000604426" "00001074" "70" "784" "0" "784" "0" "c.784G>T" "r.(?)" "p.(Glu262*)" "" "0000619697" "00001074" "70" "3355" "0" "3355" "0" "c.3355G>A" "r.(?)" "p.(Gly1119Arg)" "" "0000619698" "00001074" "30" "2824" "0" "2824" "0" "c.2824C>T" "r.(?)" "p.(Leu942=)" "" "0000619699" "00001074" "30" "2197" "-5" "2197" "-5" "c.2197-5T>C" "r.spl?" "p.?" "" "0000619701" "00001074" "50" "598" "0" "598" "0" "c.598A>C" "r.(?)" "p.(Lys200Gln)" "" "0000659381" "00001074" "30" "1767" "0" "1767" "0" "c.1767G>A" "r.(?)" "p.(Lys589=)" "" "0000659382" "00001074" "30" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Tyr516=)" "" "0000659383" "00001074" "70" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Ile31Thr)" "" "0000667470" "00001074" "90" "2351" "0" "2351" "0" "c.2351T>C" "r.2351u>c" "p.Ile784Thr" "" "0000667582" "00001074" "70" "3549" "0" "3552" "0" "c.3549_3552dup" "r.(?)" "p.(Ile1185Glyfs*23)" "" "0000682511" "00001074" "30" "3099" "0" "3099" "0" "c.3099T>C" "r.(?)" "p.(Ser1033=)" "" "0000682512" "00001074" "50" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Val797Met)" "" "0000682513" "00001074" "30" "1119" "0" "1119" "0" "c.1119G>A" "r.(?)" "p.(Lys373=)" "" "0000693659" "00001074" "30" "1863" "0" "1863" "0" "c.1863C>T" "r.(?)" "p.(Asn621=)" "" "0000693660" "00001074" "30" "1545" "4" "1545" "4" "c.1545+4A>C" "r.spl?" "p.?" "" "0000698374" "00001074" "50" "1235" "0" "1235" "0" "c.1235G>A" "r.(?)" "p.(Arg412Gln)" "7" "0000704177" "00001074" "70" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807His)" "" "0000729037" "00001074" "50" "2948" "0" "2948" "0" "c.2948A>G" "r.(?)" "p.(Tyr983Cys)" "" "0000729038" "00001074" "50" "494" "0" "494" "0" "c.494C>T" "r.(?)" "p.(Ala165Val)" "" "0000729039" "00001074" "30" "372" "0" "372" "0" "c.372G>C" "r.(?)" "p.(Leu124Phe)" "" "0000787050" "00001074" "70" "2394" "0" "2394" "0" "c.2394del" "r.(?)" "p.(Lys798AsnfsTer31)" "15" "0000787051" "00001074" "70" "3305" "0" "3312" "0" "c.3305_3312del" "r.(?)" "p.(Asn1102ArgfsTer53)" "22" "0000810519" "00001074" "30" "1545" "4" "1545" "4" "c.1545+4A>C" "r.spl?" "p.?" "" "0000810520" "00001074" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Gln391=)" "" "0000810521" "00001074" "70" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Glu381Lys)" "" "0000812991" "00001074" "90" "2122" "0" "2122" "0" "c.2122del" "r.(?)" "p.(Leu708CysfsTer12)" "" "0000836997" "00001074" "70" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Arg699Cys)" "" "0000856696" "00001074" "70" "3362" "0" "3362" "0" "c.3362G>A" "r.(?)" "p.(Arg1121His)" "" "0000856697" "00001074" "30" "372" "0" "372" "0" "c.372G>C" "r.(?)" "p.(Leu124Phe)" "" "0000867459" "00001074" "50" "2863" "-9" "2863" "-9" "c.2863-9C>G" "r.(=)" "p.(=)" "" "0000867460" "00001074" "30" "1254" "4" "1254" "4" "c.1254+4G>A" "r.spl?" "p.?" "" "0000871142" "00001074" "90" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Gln871*)" "" "0000896293" "00001074" "50" "3621" "0" "3621" "0" "c.3621A>T" "r.(?)" "p.(Gln1207His)" "" "0000927398" "00001074" "50" "1678" "0" "1678" "0" "c.1678A>G" "r.(?)" "p.(Ile560Val)" "" "0000933236" "00001074" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Leu41Phe)" "2" "0000933237" "00001074" "70" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Leu41Phe)" "2" "0000933238" "00001074" "70" "802" "0" "804" "0" "c.802_804del" "r.(?)" "p.(Lys268del)" "5" "0000933239" "00001074" "70" "2974" "-2" "2974" "-2" "c.2974-2A>G" "r.spl" "p.?" "20i" "0000933240" "00001074" "70" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Gln721*)" "13" "0000933241" "00001074" "70" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Arg1051*)" "21" "0000933253" "00001074" "70" "110" "0" "110" "0" "c.110G>T" "r.(?)" "p.(Gly37Val)" "2" "0000933254" "00001074" "90" "116" "0" "116" "0" "c.116C>G" "r.(?)" "p.(Ser39*)" "2" "0000933255" "00001074" "70" "128" "0" "128" "0" "c.128A>T" "r.(?)" "p.(Asp43Val)" "2" "0000933256" "00001074" "70" "140" "0" "140" "0" "c.140T>G" "r.(?)" "p.(Phe47Cys)" "2" "0000933257" "00001074" "70" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Gly100Arg)" "2" "0000933258" "00001074" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "4" "0000933259" "00001074" "90" "655" "0" "655" "0" "c.655del" "r.(?)" "p.(Ala219Leufs*45)" "5" "0000933260" "00001074" "90" "802" "0" "804" "0" "c.802_804del" "r.(?)" "p.(Lys268del)" "5" "0000933261" "00001074" "90" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496His)" "9" "0000933262" "00001074" "90" "2394" "0" "2394" "0" "c.2394dup" "r.(?)" "p.(Arg799Thrfs*4)" "15" "0000933263" "00001074" "70" "2420" "0" "2420" "0" "c.2420G>A" "r.(?)" "p.(Arg807His)" "15" "0000933264" "00001074" "90" "2547" "0" "2547" "0" "c.2547del" "r.(?)" "p.(Ile849Metfs*12)" "16" "0000933265" "00001074" "90" "2853" "0" "2856" "0" "c.2853_2856del" "r.(?)" "p.(Ser951Argfs*12)" "18" "0000933266" "00001074" "90" "1114" "-2" "1114" "-2" "c.1114-2A>G" "r.spl" "p.?" "7i" "0000935908" "00001074" "70" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Lys203Glu)" "" "0000936270" "00001074" "50" "3465" "0" "3465" "0" "c.3465G>A" "r.(=)" "p.(=)" "" "0000945929" "00001074" "70" "725" "0" "725" "0" "c.725T>C" "r.(?)" "p.(Leu242Pro)" "" "0000954124" "00001074" "70" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "" "0000971187" "00001074" "90" "2683" "0" "2683" "0" "c.2683C>G" "r.(?)" "p.(Arg895Gly)" "" "0000971188" "00001074" "90" "1576" "0" "1576" "0" "c.1576A>C" "r.(?)" "p.(Thr526Pro)" "" "0001006854" "00001074" "50" "3200" "0" "3200" "0" "c.3200T>A" "r.(?)" "p.(Phe1067Tyr)" "" "0001006855" "00001074" "50" "1361" "0" "1361" "0" "c.1361A>G" "r.(?)" "p.(Lys454Arg)" "" "0001022044" "00001074" "70" "1968" "0" "1970" "0" "c.1968_1970del" "r.(?)" "p.(Ser657del)" "" "0001027517" "00001074" "70" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(Arg790Trp)" "" "0001027518" "00001074" "30" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(=)" "" "0001044408" "00001074" "50" "2694" "0" "2694" "0" "c.2694C>T" "r.(?)" "p.(=)" "" "0001044409" "00001074" "30" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(=)" "" "0001057336" "00001074" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(=)" "" "0001059194" "00001074" "90" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Leu455Pro)" "" "0001059195" "00001074" "90" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Lys384Glu)" "" "0001059196" "00001074" "70" "2202" "0" "2202" "0" "c.2202dup" "r.(?)" "p.(Ser735IlefsTer6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 95 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002987" "0000000209" "0000006927" "0000000209" "0000006928" "0000000210" "0000009005" "0000000210" "0000009007" "0000000210" "0000010979" "0000019850" "0000040309" "0000019904" "0000046779" "0000050354" "0000079334" "0000050609" "0000079589" "0000081103" "0000130189" "0000180366" "0000403844" "0000180367" "0000403845" "0000180368" "0000403846" "0000180369" "0000403847" "0000180370" "0000403848" "0000180371" "0000403849" "0000180372" "0000403850" "0000180373" "0000403851" "0000180374" "0000403852" "0000180375" "0000403853" "0000180376" "0000403854" "0000180377" "0000403855" "0000180378" "0000403856" "0000180379" "0000403857" "0000180380" "0000403858" "0000180381" "0000403859" "0000180382" "0000403860" "0000180383" "0000403861" "0000180384" "0000403862" "0000180385" "0000403863" "0000180386" "0000403864" "0000180387" "0000403865" "0000180388" "0000403866" "0000180389" "0000403867" "0000180390" "0000403868" "0000180391" "0000403869" "0000180392" "0000403870" "0000180393" "0000403871" "0000180394" "0000403872" "0000180395" "0000403873" "0000180396" "0000403874" "0000180397" "0000403875" "0000180398" "0000403876" "0000180399" "0000403877" "0000180400" "0000403878" "0000180401" "0000403879" "0000180402" "0000403880" "0000180403" "0000403881" "0000180404" "0000403882" "0000180405" "0000403883" "0000180406" "0000403884" "0000180407" "0000403885" "0000180408" "0000403886" "0000180409" "0000403887" "0000180410" "0000403888" "0000180411" "0000403889" "0000180412" "0000403890" "0000180413" "0000403891" "0000235461" "0000478226" "0000270642" "0000604426" "0000304072" "0000667470" "0000304184" "0000667582" "0000316224" "0000698374" "0000321348" "0000704177" "0000375699" "0000787050" "0000375700" "0000787051" "0000402763" "0000836997" "0000413634" "0000871142" "0000437818" "0000933236" "0000437819" "0000933237" "0000437820" "0000933238" "0000437821" "0000933239" "0000437822" "0000933240" "0000437823" "0000933241" "0000437835" "0000933253" "0000437836" "0000933254" "0000437837" "0000933255" "0000437838" "0000933256" "0000437839" "0000933257" "0000437840" "0000933258" "0000437841" "0000933259" "0000437842" "0000933260" "0000437843" "0000933261" "0000437844" "0000933262" "0000437845" "0000933263" "0000437846" "0000933264" "0000437847" "0000933265" "0000437848" "0000933266" "0000439779" "0000935908" "0000440112" "0000936270" "0000445921" "0000954124" "0000471072" "0001059194" "0000471073" "0001059195" "0000471074" "0001059196"