### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WNT1) # 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}}" "WNT1" "Wnt family member 1" "12" "q13.12" "unknown" "NC_000012.11" "UD_136020988963" "" "https://www.LOVD.nl/WNT1" "Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases \r\nOsteogenesis Imperfecta Federation Europe (OIFE) " "1" "12774" "7471" "164820" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\nThis database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/WNT1_codingDNA.html" "1" "" "
Osteogenesis Imperfecta Variant Database\r\n
\r\n\r\n
" "-1" "" "-1" "00001" "2013-03-04 00:00:00" "00085" "2022-04-05 13:13:58" "00000" "2025-11-01 13:22:20" ## 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}}" "00022851" "WNT1" "wingless-type MMTV integration site family, member 1" "001" "NM_005430.3" "" "NP_005421.1" "" "" "" "-198" "2086" "1113" "49372236" "49376396" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03855" "OI15" "osteogenesis imperfecta, type XV (OI15)" "AR" "615220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 21:50:02" "03856" "BMND16" "bone mineral density quantitative trait locus 16 (BMND-16)" "AR" "615221" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05296" "OI" "osteogenesis imperfecta" "" "" "" "" "" "00006" "2017-06-26 22:59:16" "00006" "2025-09-23 21:54:31" "05306" "BMND" "bone mineral density, quantitative trait locus (BMND)" "" "" "" "" "" "00006" "2017-07-14 19:04:41" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "WNT1" "03855" "WNT1" "03856" "WNT1" "05296" "WNT1" "05306" ## Individuals ## Do not remove or alter this header ## ## Count = 106 "{{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}}" "00295531" "" "" "" "1" "" "03566" "" "" "" "" "" "" "0" "" "" "" "" "00295532" "" "" "" "1" "" "03566" "" "" "" "" "" "" "0" "" "" "" "" "00300382" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam36" "00300383" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam37" "00300384" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam38" "00300435" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam88" "00331596" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG1577" "00331597" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (3M)" "M" "yes" "" "" "0" "" "" "Arab" "08DG00450 , 08DG00451 , 08DG00456" "00331598" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "10DG1539" "00372779" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372780" "" "" "" "1" "" "00085" "{PMID:Kuptanon 2019:30012084}" "" "" "" "" "" "0" "" "" "" "" "00372781" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372782" "" "" "" "1" "" "00085" "{PMID:Panigrahi 2018:29481978}" "" "" "" "" "" "0" "" "" "" "" "00372783" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372784" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372785" "" "" "" "1" "" "00085" "{PMID:Liu 2016:27450065}" "" "" "" "China" "" "0" "" "" "" "" "00372786" "" "" "" "1" "" "00085" "{PMID:Aldinger 2015:26671912}" "" "" "" "China" "" "0" "" "" "" "" "00372787" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372788" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372789" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "India" "" "0" "" "" "" "AN_005854" "00372790" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "India" "" "0" "" "" "" "" "00372791" "" "" "" "1" "" "03704" "{PMID:Pyott 2013:23499310}" "The proband (II-1) has an affected younger sibling (II-2). The phenotype is consistent with OI III but has not been independently confirmed." "" "" "" "" "0" "" "" "" "" "00372792" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2013:23434763}" "This patients family was reported in further depth as Family 2 by {PMID25010833:Palomo et al., 2014}." "" "" "" "" "0" "" "" "" "" "00372793" "" "" "" "1" "" "03704" "{PMID:Pyott 2013:23499310}" "The parents of the proband and a younger brother are heterozygous for the variant." "" "" "" "" "0" "" "" "Newfoundland" "" "00372794" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372795" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372796" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372797" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372798" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372799" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372800" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372801" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372802" "" "" "" "1" "" "00085" "{PMID:Umair 2017:28665926}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00372803" "" "" "" "1" "" "00085" "{PMID:Won 2017:28528193}" "" "" "" "Korea" "" "0" "" "" "" "" "00372804" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372805" "" "" "" "1" "" "00085" "{PMID:Liu 2016:27450065}" "" "" "" "China" "" "0" "" "" "" "" "00372806" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372807" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29552441}" "" "" "" "China" "" "0" "" "" "" "" "00372808" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "The probands sister (P9) also harbours the same two variants and has the same OI type." "" "" "" "" "0" "" "" "" "" "00372809" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "The probands brother (P11) also harbours the same two variants and has the same OI type.; The paternal variant is misreported as c.774C>T in Supplemntal Figure 2." "" "" "" "" "0" "" "" "" "" "00372810" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372811" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Turkey" "" "0" "" "" "" "" "00372812" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2013:23434763}" "This patients family was reported in further depth as Family 1 by {PMID25010833:Palomo et al., 2014}." "" "" "" "" "0" "" "" "" "" "00372813" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372814" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372815" "" "" "" "1" "" "00085" "{PMID:Cao 2019:30913006}" "" "" "" "China" "" "0" "" "" "" "" "00372817" "" "" "" "1" "" "00085" "{PMID:Liu 2016:27450065}" "" "" "" "China" "" "0" "" "" "" "" "00372818" "" "" "" "1" "" "00085" "{PMID:Liu 2016:27450065}" "" "" "" "China" "" "0" "" "" "" "" "00372819" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "" "00372820" "" "" "" "1" "" "01819" "" "Has another sib (brother) with the same causal variant" "" "" "India" "" "0" "" "" "" "AN_005850" "00372821" "" "" "" "1" "" "01819" "" "" "" "" "India" "" "0" "" "" "" "AN_005851" "00372822" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "India" "" "0" "" "" "" "AN_005852" "00372823" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "India" "" "0" "" "" "" "AN_005853" "00372824" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372825" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372826" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372827" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372828" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "The patient was homozygous for the variation. Whilst the patients mother as a heterozygous, data for the patients father is not known." "" "" "India" "" "0" "" "" "" "" "00372829" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "The was hypertrophic callus formation noted in the patient." "" "" "India" "" "0" "" "" "" "" "00372830" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372831" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372832" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "" "00372833" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "The patient had a brother (reported as PI-2) with the same variation." "" "" "India" "" "0" "" "" "" "" "00372834" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "The patient had a sister (reported as PI-1) with the same variation." "" "" "India" "" "0" "" "" "" "" "00372835" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "The patient had relatives (reported as PI-1 abd PI-2 in the paper) with the same variation." "" "" "India" "" "0" "" "" "" "" "00372836" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "India" "" "0" "" "" "" "" "00372837" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "India" "" "0" "" "" "" "" "00372838" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00372839" "" "" "" "1" "" "00085" "{PMID:Stephen 2015:25450603}" "The patient has two affected second cousins once removed and the parents are consanguineous and confirmed to be heterozygous for the variant.; The variant deletion spans are incorrectly reported at the DNA and protein levels." "" "" "India" "" "0" "" "" "" "" "00372840" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372841" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00372842" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372843" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372844" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00372845" "" "" "" "1" "" "00085" "{PMID:Laine 2013:23656646}" "There are 10 affected individuals in four generations with severe early-onset dominantly inherited osteoporosis." "" "" "Finland" "" "0" "" "" "" "" "00372846" "" "" "" "1" "" "00085" "{PMID:Ang 2018:30364642}" "The probands father also harbours the same variant and has had fractures in adulthood.; The variant was originally incorrectly described as c.666G>A, but was subsequently corrected by {PMID32195293:Timme et al., 2020}." "" "" "" "" "0" "" "" "" "" "00372847" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372848" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372849" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372850" "" "" "" "1" "" "00085" "{PMID:Lu 2018:29935254}" "" "" "" "" "" "0" "" "" "" "" "00372851" "" "" "" "1" "" "01819" "" "" "" "" "India" "" "0" "" "" "" "" "00372852" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "India" "" "0" "" "" "" "" "00372853" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "There are five affected individuals with early-onset osteoporosis, inherited in an autosomal dominant fashion." "" "" "" "" "0" "" "" "" "" "00372854" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00372855" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "India" "" "0" "" "" "" "" "00372856" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "There are three affected individuals in two different branches of the family. The parents of these individuals are consanguineous." "" "" "Turkey" "" "0" "" "" "" "" "00372857" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Turkey" "" "0" "" "" "" "AN_005856" "00372858" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Turkey" "" "0" "" "" "" "AN_005857" "00372859" "" "" "" "1" "" "00085" "{PMID:Kantaputra 2019:30692598}" "The proband exhibits arachnoid cysts in addition to the OI phenotype." "" "" "Thailand" "" "0" "" "" "" "" "00372860" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Turkey" "" "0" "" "" "" "" "00372861" "" "" "" "1" "" "00085" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Turkey" "" "0" "" "" "" "" "00372862" "" "" "" "1" "" "03704" "{PMID:Pyott 2013:23499310}" "The proband (II-6) has an older affected brother (II-3). The parents are first cousins." "" "" "" "" "0" "" "" "Hmong" "" "00372863" "" "" "" "1" "" "00085" "{PMID:Laine 2013:23656646}" "There are two affected sisters homozygous for this variant, one of whom has severe intellectual disability with cerebellar malformation.; The OI phenotype is described as severe and appears to be broadly consistent with OI type III." "" "" "" "" "0" "" "" "Hmomg" "" "00372864" "" "" "" "1" "" "03704" "{PMID:Pyott 2013:23499310}" "The proband (IV-2) has an affected younger brother (IV-3). The parents are first cousins." "" "" "" "" "0" "" "" "" "" "00372865" "" "" "" "1" "" "00085" "{PMID:Keupp 2013:23499309}" "There are three affected siblings in this family. The parents are consanguineous." "" "" "Egypt" "" "0" "" "" "" "" "00372866" "" "" "" "1" "" "00085" "{PMID:Fahiminiya 2013:23434763}" "" "" "" "" "" "0" "" "" "" "" "00372867" "" "" "" "1" "" "00085" "{PMID:Kausar 2018:30447692}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00372868" "" "" "" "1" "" "00085" "{PMID:Faqeih 2013:23709755}" "" "" "yes" "" "" "0" "" "" "" "" "00372869" "" "" "" "1" "" "00085" "" "The phenotype is described as early-onset osteoporosis with fractures." "" "" "Spain" "" "0" "" "" "" "" "00372870" "" "" "" "1" "" "00085" "{PMID:Alhamdi 2018:30246918}" "The phenotype is variable in the pedigree" "" "" "" "" "0" "" "" "" "" "00431384" "" "" "" "1" "" "04465" "{PMID:Chen 2020:32529806}" "" "F" "yes" "China" ">28y" "" "" "" "" "patient" "00434939" "" "" "" "1" "" "04465" "{PMID:Zhu 2023:36873675}" "" "F" "?" "? (unknown)" ">08y06m" "0" "" "" "" "Pat1" "00435095" "" "" "" "2" "" "04465" "{PMID:Çavdartepe 2023:37064339}" "" "F" "yes" "Iraq" ">07y" "" "" "" "" "Pat1" "00435096" "" "" "00435095" "1" "" "04465" "{PMID:Çavdartepe 2023:37064339}" "" "M" "yes" "Iraq" ">05y" "" "" "" "" "Pat2" "00466820" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat107" "00466821" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat108" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 106 "{{individualid}}" "{{diseaseid}}" "00295531" "00198" "00295532" "00198" "00300382" "05296" "00300383" "05296" "00300384" "05296" "00300435" "05296" "00331596" "05517" "00331597" "05517" "00331598" "05517" "00372779" "05296" "00372780" "05296" "00372781" "05296" "00372782" "05296" "00372783" "05296" "00372784" "05296" "00372785" "05296" "00372786" "05296" "00372787" "05296" "00372788" "05296" "00372789" "05296" "00372790" "05296" "00372791" "05296" "00372792" "05296" "00372793" "05296" "00372794" "05296" "00372795" "05296" "00372796" "05296" "00372797" "05296" "00372798" "05296" "00372799" "05296" "00372800" "05296" "00372801" "05296" "00372802" "05296" "00372803" "05296" "00372804" "05296" "00372805" "05296" "00372806" "05296" "00372807" "05296" "00372808" "05296" "00372809" "05296" "00372810" "05296" "00372811" "05296" "00372812" "05296" "00372813" "05296" "00372814" "05296" "00372815" "05296" "00372817" "05296" "00372818" "05296" "00372819" "05296" "00372820" "05296" "00372821" "05296" "00372822" "05296" "00372823" "05296" "00372824" "05296" "00372825" "05296" "00372826" "05296" "00372827" "05296" "00372828" "00198" "00372829" "05296" "00372830" "05296" "00372831" "05296" "00372832" "05296" "00372833" "05296" "00372834" "05296" "00372835" "05296" "00372836" "05296" "00372837" "05296" "00372838" "05296" "00372839" "05296" "00372840" "05296" "00372841" "05296" "00372842" "05296" "00372843" "05296" "00372844" "05296" "00372845" "00198" "00372846" "00198" "00372847" "05296" "00372848" "05296" "00372849" "05296" "00372850" "05296" "00372851" "05296" "00372852" "05296" "00372853" "00198" "00372854" "05296" "00372855" "05296" "00372856" "05296" "00372857" "05296" "00372858" "05296" "00372859" "05296" "00372860" "05296" "00372861" "05296" "00372862" "05296" "00372863" "05296" "00372864" "05296" "00372865" "05296" "00372866" "05296" "00372867" "05296" "00372868" "05296" "00372869" "00198" "00372870" "00198" "00431384" "05296" "00434939" "03855" "00435095" "03855" "00435096" "03855" "00466820" "05296" "00466821" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03855, 03856, 05296, 05306, 05517 ## Count = 103 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000227690" "05296" "00300382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227691" "05296" "00300383" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000227692" "05296" "00300384" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000227743" "05296" "00300435" "00006" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type III" "" "0000249788" "05517" "00331596" "00000" "Familial, autosomal recessive" "" "Recurrent fractures, Blue sclerae, Osteopenia, Bowing of the legs, Delayed gross motor de Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249789" "05517" "00331597" "00000" "Familial, autosomal recessive" "" "Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249790" "05517" "00331598" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Muscular hypotonia, Wide anterior fontanel, Delayed cranial Yes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000268056" "05296" "00372779" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268057" "05296" "00372780" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268058" "05296" "00372781" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268059" "05296" "00372782" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268060" "05296" "00372783" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268061" "05296" "00372784" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268062" "05296" "00372785" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268063" "05296" "00372786" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268064" "05296" "00372787" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268065" "05296" "00372788" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268066" "05296" "00372789" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268067" "05296" "00372790" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268068" "05296" "00372791" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268069" "05296" "00372792" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268070" "05296" "00372793" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268071" "05296" "00372794" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268072" "05296" "00372795" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268073" "05296" "00372796" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268074" "05296" "00372797" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268075" "05296" "00372798" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268076" "05296" "00372799" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268077" "05296" "00372800" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268078" "05296" "00372801" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268079" "05296" "00372802" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268080" "05296" "00372803" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268081" "05296" "00372804" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268082" "05296" "00372805" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268083" "05296" "00372806" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268084" "05296" "00372807" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268085" "05296" "00372808" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268086" "05296" "00372809" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268087" "05296" "00372810" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268088" "05296" "00372811" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268089" "05296" "00372812" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268090" "05296" "00372813" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268091" "05296" "00372814" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268092" "05296" "00372815" "00085" "Unknown" "" "The authors were contacted for further clarification of the OI type. They stated that this patient if classified according to pathogenic genes, is likely to have the type XV. Also, they stated that the patient could also be classified as type 4 according to the 5 types of OI (Bonafe et al., 2015, PMID: 26394607)." "" "" "" "" "" "" "" "" "" "OI" "" "0000268094" "05296" "00372817" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268095" "05296" "00372818" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268096" "05296" "00372819" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268097" "05296" "00372820" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268098" "05296" "00372821" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268099" "05296" "00372822" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268100" "05296" "00372823" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268101" "05296" "00372824" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268102" "05296" "00372825" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268103" "05296" "00372826" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268104" "05296" "00372827" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268105" "05296" "00372829" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268106" "05296" "00372830" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268107" "05296" "00372831" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268108" "05296" "00372832" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268109" "05296" "00372833" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268110" "05296" "00372834" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268111" "05296" "00372835" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268112" "05296" "00372836" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268113" "05296" "00372837" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268114" "05296" "00372838" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268115" "05296" "00372839" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268116" "05296" "00372840" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268117" "05296" "00372841" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268118" "05296" "00372842" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268119" "05296" "00372843" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268120" "05296" "00372844" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268121" "00198" "00372845" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis" "" "0000268122" "00198" "00372846" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "fracturing bone disease" "" "0000268123" "05296" "00372847" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268124" "05296" "00372848" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268125" "05296" "00372849" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268126" "05296" "00372850" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268127" "05296" "00372851" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268128" "05296" "00372852" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268129" "00198" "00372853" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis" "" "0000268130" "05296" "00372854" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268131" "05296" "00372855" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268132" "05296" "00372856" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268133" "05296" "00372857" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268134" "05296" "00372858" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268135" "05296" "00372859" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268136" "05296" "00372860" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268137" "05296" "00372861" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268138" "05296" "00372862" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268139" "05296" "00372863" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268140" "05296" "00372864" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268141" "05296" "00372865" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268142" "05296" "00372866" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268143" "05296" "00372867" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268144" "05296" "00372868" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268145" "00198" "00372869" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteoporosis" "" "0000268146" "00198" "00372870" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "osteopaenia" "" "0000321979" "05296" "00431384" "04465" "Familial, autosomal recessive" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325186" "03855" "00434939" "04465" "Familial, autosomal recessive" "08y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000325334" "03855" "00435095" "04465" "Familial, autosomal recessive" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325335" "03855" "00435096" "04465" "Familial, autosomal recessive" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0000352183" "05296" "00466820" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000352184" "05296" "00466821" "00006" "Familial, autosomal recessive" "" "OI2 perinatally lethal" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 106 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000296701" "00295531" "1" "03566" "03566" "2020-03-17 13:23:31" "" "" "-" "DNA" "" "" "0000296702" "00295532" "1" "03566" "03566" "2020-03-17 13:25:29" "" "" "-" "DNA" "" "" "0000301503" "00300382" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301504" "00300383" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301505" "00300384" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301556" "00300435" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000332815" "00331596" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332816" "00331597" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332817" "00331598" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374013" "00372779" "1" "03894" "03894" "2018-09-26 10:11:37" "" "" "PCR;SEQ" "DNA" "" "" "0000374014" "00372780" "1" "00085" "00085" "2019-08-14 17:05:16" "00085" "2019-08-23 11:24:14" "SEQ" "DNA" "" "" "0000374015" "00372781" "1" "03894" "03894" "2018-09-26 10:00:33" "" "" "PCR;SEQ" "DNA" "" "" "0000374016" "00372782" "1" "00085" "00085" "2019-08-21 10:26:55" "" "" "SEQ" "DNA" "" "" "0000374017" "00372783" "1" "03894" "03894" "2018-09-26 10:25:52" "" "" "PCR;SEQ" "DNA" "" "" "0000374018" "00372784" "1" "03894" "03894" "2018-09-26 09:53:08" "" "" "PCR;SEQ" "DNA" "" "" "0000374019" "00372785" "1" "00085" "00085" "2016-07-28 14:50:30" "00085" "2016-07-28 15:21:44" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374020" "00372786" "1" "00085" "00085" "2016-02-16 15:42:42" "" "" "SEQ" "DNA" "" "" "0000374021" "00372787" "1" "03894" "03894" "2018-09-26 08:20:34" "" "" "PCR;SEQ" "DNA" "" "" "0000374022" "00372788" "1" "03894" "03894" "2018-09-26 08:32:59" "" "" "PCR;SEQ" "DNA" "" "" "0000374023" "00372789" "1" "01819" "01819" "2018-09-11 08:34:40" "" "" "PCR;SEQ" "DNA" "" "" "0000374024" "00372790" "1" "00085" "00085" "2019-09-03 12:50:26" "" "" "SEQ" "DNA" "" "" "0000374025" "00372791" "1" "03704" "00085" "2013-03-19 11:11:04" "" "" "PCR;SEQ" "DNA" "" "" "0000374026" "00372792" "1" "00085" "00085" "2013-03-04 13:55:11" "00085" "2014-07-14 09:10:55" "SEQ" "DNA" "" "" "0000374027" "00372793" "1" "03704" "00085" "2013-03-19 11:14:18" "00085" "2013-03-19 11:15:53" "PCR;SEQ" "DNA" "" "" "0000374028" "00372794" "1" "00085" "00085" "2018-08-06 14:48:32" "" "" "SEQ" "DNA" "" "" "0000374029" "00372795" "1" "00085" "00085" "2018-08-06 15:27:49" "" "" "SEQ" "DNA" "" "" "0000374030" "00372796" "1" "00085" "00085" "2018-08-06 15:32:46" "" "" "SEQ" "DNA" "" "" "0000374031" "00372797" "1" "03894" "03894" "2018-09-26 06:10:16" "" "" "PCR;SEQ" "DNA" "" "" "0000374032" "00372798" "1" "03894" "03894" "2018-09-26 09:39:42" "" "" "PCR;SEQ" "DNA" "" "" "0000374033" "00372799" "1" "03894" "03894" "2018-09-26 10:07:28" "" "" "PCR;SEQ" "DNA" "" "" "0000374034" "00372800" "1" "00085" "00085" "2019-08-20 11:17:53" "" "" "SEQ" "DNA" "" "" "0000374035" "00372801" "1" "00085" "00085" "2019-08-20 15:25:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374036" "00372802" "1" "00085" "00085" "2018-06-25 15:36:28" "00085" "2018-06-25 15:37:22" "PCR;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000374037" "00372803" "1" "00085" "00085" "2019-08-27 14:45:39" "" "" "SEQ" "DNA" "" "" "0000374038" "00372804" "1" "03894" "03894" "2018-09-26 10:29:03" "" "" "PCR;SEQ" "DNA" "" "" "0000374039" "00372805" "1" "00085" "00085" "2016-07-28 15:30:35" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374040" "00372806" "1" "00085" "00085" "2018-08-06 14:36:49" "" "" "SEQ" "DNA" "" "" "0000374041" "00372807" "1" "00085" "00085" "2019-08-16 15:22:00" "" "" "SEQ" "DNA" "" "" "0000374042" "00372808" "1" "00085" "00085" "2018-08-06 15:39:09" "" "" "SEQ" "DNA" "" "" "0000374043" "00372809" "1" "00085" "00085" "2018-08-06 15:53:22" "00085" "2018-08-06 15:56:44" "SEQ" "DNA" "" "" "0000374044" "00372810" "1" "03894" "03894" "2018-09-26 06:04:31" "" "" "PCR;SEQ" "DNA" "" "" "0000374045" "00372811" "1" "00085" "00085" "2017-03-17 08:21:38" "" "" "PCR;SEQ" "DNA" "" "" "0000374046" "00372812" "1" "00085" "00085" "2013-03-04 13:52:25" "00085" "2014-07-14 09:10:13" "SEQ" "DNA" "" "" "0000374047" "00372813" "1" "00085" "00085" "2018-08-06 14:40:50" "" "" "SEQ" "DNA" "" "" "0000374048" "00372814" "1" "03894" "03894" "2018-09-26 08:28:57" "" "" "PCR;SEQ" "DNA" "" "" "0000374049" "00372815" "1" "00085" "00085" "2019-08-16 11:25:51" "00085" "2019-08-23 14:58:16" "SEQ" "DNA" "" "" "0000374051" "00372817" "1" "00085" "00085" "2016-07-28 15:20:23" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374052" "00372818" "1" "00085" "00085" "2016-07-28 15:47:42" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374053" "00372819" "1" "00085" "00085" "2017-03-17 10:21:56" "" "" "PCR;SEQ" "DNA" "" "" "0000374054" "00372820" "1" "01819" "01819" "2018-09-11 08:26:46" "" "" "PCR;SEQ" "DNA" "" "" "0000374055" "00372821" "1" "01819" "01819" "2018-09-11 08:29:07" "" "" "PCR;SEQ" "DNA" "" "" "0000374056" "00372822" "1" "01819" "01819" "2018-09-11 08:30:16" "" "" "PCR;SEQ" "DNA" "" "" "0000374057" "00372823" "1" "01819" "01819" "2018-09-11 08:31:39" "" "" "PCR;SEQ" "DNA" "" "" "0000374058" "00372824" "1" "03894" "03894" "2018-09-26 06:06:15" "" "" "PCR;SEQ" "DNA" "" "" "0000374059" "00372825" "1" "03894" "03894" "2018-09-26 06:07:38" "" "" "PCR;SEQ" "DNA" "" "" "0000374060" "00372826" "1" "03894" "03894" "2018-09-26 08:36:09" "" "" "PCR;SEQ" "DNA" "" "" "0000374061" "00372827" "1" "00085" "00085" "2019-08-19 14:29:45" "00085" "2019-08-19 14:54:15" "SEQ" "DNA" "" "" "0000374062" "00372828" "1" "00085" "00085" "2019-08-19 14:55:13" "00085" "2019-08-19 14:55:51" "SEQ" "DNA" "" "" "0000374063" "00372829" "1" "00085" "00085" "2019-08-19 16:34:26" "" "" "SEQ" "DNA" "" "" "0000374064" "00372830" "1" "00085" "00085" "2019-08-20 10:34:01" "" "" "SEQ" "DNA" "" "" "0000374065" "00372831" "1" "00085" "00085" "2019-08-20 11:20:31" "" "" "SEQ" "DNA" "" "" "0000374066" "00372832" "1" "00085" "00085" "2019-08-20 11:22:17" "" "" "SEQ" "DNA" "" "" "0000374067" "00372833" "1" "00085" "00085" "2019-09-03 11:56:35" "" "" "SEQ" "DNA" "" "" "0000374068" "00372834" "1" "00085" "00085" "2019-09-03 12:37:55" "" "" "SEQ" "DNA" "" "" "0000374069" "00372835" "1" "00085" "00085" "2019-09-03 12:41:47" "" "" "SEQ" "DNA" "" "" "0000374070" "00372836" "1" "00085" "00085" "2019-09-03 12:45:00" "" "" "SEQ" "DNA" "" "" "0000374071" "00372837" "1" "00085" "00085" "2019-09-03 12:47:48" "" "" "SEQ" "DNA" "" "" "0000374072" "00372838" "1" "00085" "00085" "2013-03-19 11:40:21" "" "" "PCR;SEQ" "DNA" "" "" "0000374073" "00372839" "1" "00085" "00085" "2015-04-14 14:51:40" "00085" "2015-04-14 14:53:28" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374074" "00372840" "1" "00085" "00085" "2018-08-06 14:27:14" "" "" "SEQ" "DNA" "" "" "0000374075" "00372841" "1" "00085" "00085" "2013-03-19 11:46:59" "" "" "PCR;SEQ" "DNA" "" "" "0000374076" "00372842" "1" "03894" "03894" "2018-09-26 08:34:52" "" "" "PCR;SEQ" "DNA" "" "" "0000374077" "00372843" "1" "03894" "03894" "2018-09-26 08:38:00" "" "" "PCR;SEQ" "DNA" "" "" "0000374078" "00372844" "1" "00085" "00085" "2013-03-19 11:43:54" "" "" "PCR;SEQ" "DNA" "" "" "0000374079" "00372845" "1" "00085" "00085" "2013-05-09 08:45:02" "00085" "2013-05-10 11:10:01" "PCR;SEQ" "DNA" "" "" "0000374080" "00372846" "1" "00085" "00085" "2020-03-29 10:54:37" "00085" "2020-03-29 11:04:16" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374081" "00372847" "1" "00085" "00085" "2018-08-06 14:32:12" "" "" "SEQ" "DNA" "" "" "0000374082" "00372848" "1" "03894" "03894" "2018-09-26 08:22:21" "" "" "PCR;SEQ" "DNA" "" "" "0000374083" "00372849" "1" "03894" "03894" "2018-09-26 09:55:15" "" "" "PCR;SEQ" "DNA" "" "" "0000374084" "00372850" "1" "00085" "00085" "2018-08-06 16:02:35" "" "" "SEQ" "DNA" "" "" "0000374085" "00372851" "1" "01819" "01819" "2018-09-11 08:36:49" "" "" "PCR;SEQ" "DNA" "" "" "0000374086" "00372852" "1" "00085" "00085" "2019-09-03 12:57:05" "" "" "SEQ" "DNA" "" "" "0000374087" "00372853" "1" "00085" "00085" "2013-03-19 11:57:06" "00085" "2014-04-29 11:31:00" "PCR;SEQ" "DNA" "" "" "0000374088" "00372854" "1" "03894" "03894" "2018-09-26 10:18:18" "" "" "PCR;SEQ" "DNA" "" "" "0000374089" "00372855" "1" "00085" "00085" "2019-09-03 13:01:12" "" "" "SEQ" "DNA" "" "" "0000374090" "00372856" "1" "00085" "00085" "2013-03-19 11:34:47" "" "" "PCR;SEQ" "DNA" "" "" "0000374091" "00372857" "1" "01819" "01819" "2018-09-11 08:38:10" "" "" "PCR;SEQ" "DNA" "" "" "0000374092" "00372858" "1" "01819" "01819" "2018-09-11 08:39:17" "" "" "PCR;SEQ" "DNA" "" "" "0000374093" "00372859" "1" "00085" "00085" "2019-03-19 13:19:58" "" "" "?" "?" "" "" "0000374094" "00372860" "1" "00085" "00085" "2019-09-03 13:04:55" "" "" "SEQ" "DNA" "" "" "0000374095" "00372861" "1" "00085" "00085" "2019-09-03 13:06:38" "" "" "SEQ" "DNA" "" "" "0000374096" "00372862" "1" "03704" "00085" "2013-03-19 11:02:40" "" "" "PCR;SEQ" "DNA" "" "" "0000374097" "00372863" "1" "00085" "00085" "2013-05-09 08:38:54" "00085" "2013-05-10 11:10:50" "PCR;SEQ" "DNA" "" "" "0000374098" "00372864" "1" "03704" "00085" "2013-03-19 10:57:56" "" "" "PCR;SEQ" "DNA" "" "" "0000374099" "00372865" "1" "00085" "00085" "2013-03-19 11:50:43" "" "" "PCR;SEQ" "DNA" "" "" "0000374100" "00372866" "1" "00085" "00085" "2013-03-04 14:15:06" "00085" "2014-07-14 09:12:03" "SEQ" "DNA" "" "" "0000374101" "00372867" "1" "00085" "00085" "2019-03-20 10:56:02" "00085" "2019-04-30 14:07:36" "PCR;SEQ;SEQ-NG" "DNA" "" "WGS" "0000374102" "00372868" "1" "00085" "00085" "2013-05-28 11:29:26" "" "" "PCR;SEQ" "DNA" "" "" "0000374103" "00372869" "1" "00085" "00085" "2017-03-16 13:31:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374104" "00372870" "1" "00085" "00085" "2018-09-25 12:16:54" "" "" "SEQ-NG" "DNA" "" "custom gene panel" "0000432797" "00431384" "1" "04465" "04465" "2023-02-10 11:37:48" "" "" "SEQ-NG" "DNA" "sodium citrate anticoagulated blood" "Illumina MiSeq and NextSeq technologies" "0000436412" "00434939" "1" "04465" "04465" "2023-04-14 16:43:20" "" "" "SEQ" "DNA" "" "" "0000436567" "00435095" "1" "04465" "04465" "2023-05-09 13:59:26" "" "" "SEQ-NG" "DNA" "" "whole exome sequecing (WES)" "0000436568" "00435096" "1" "04465" "04465" "2023-05-09 14:02:18" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing (WES)" "0000468484" "00466820" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468485" "00466821" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 101 "{{screeningid}}" "{{geneid}}" "0000296701" "WNT1" "0000296702" "WNT1" "0000301503" "WNT1" "0000301504" "WNT1" "0000301505" "WNT1" "0000301556" "WNT1" "0000332815" "WNT1" "0000332816" "WNT1" "0000332817" "WNT1" "0000374013" "WNT1" "0000374014" "WNT1" "0000374015" "WNT1" "0000374016" "WNT1" "0000374017" "WNT1" "0000374018" "WNT1" "0000374019" "WNT1" "0000374020" "WNT1" "0000374021" "WNT1" "0000374022" "WNT1" "0000374023" "WNT1" "0000374024" "WNT1" "0000374025" "WNT1" "0000374026" "WNT1" "0000374027" "WNT1" "0000374028" "WNT1" "0000374029" "WNT1" "0000374030" "WNT1" "0000374031" "WNT1" "0000374032" "WNT1" "0000374033" "WNT1" "0000374034" "WNT1" "0000374035" "WNT1" "0000374036" "WNT1" "0000374037" "WNT1" "0000374038" "WNT1" "0000374039" "WNT1" "0000374040" "WNT1" "0000374041" "WNT1" "0000374042" "WNT1" "0000374043" "WNT1" "0000374044" "WNT1" "0000374045" "WNT1" "0000374046" "WNT1" "0000374047" "WNT1" "0000374048" "WNT1" "0000374049" "WNT1" "0000374051" "WNT1" "0000374052" "WNT1" "0000374053" "WNT1" "0000374054" "WNT1" "0000374055" "WNT1" "0000374056" "WNT1" "0000374057" "WNT1" "0000374058" "WNT1" "0000374059" "WNT1" "0000374060" "WNT1" "0000374061" "WNT1" "0000374062" "WNT1" "0000374063" "WNT1" "0000374064" "WNT1" "0000374065" "WNT1" "0000374066" "WNT1" "0000374067" "WNT1" "0000374068" "WNT1" "0000374069" "WNT1" "0000374070" "WNT1" "0000374071" "WNT1" "0000374072" "WNT1" "0000374073" "WNT1" "0000374074" "WNT1" "0000374075" "WNT1" "0000374076" "WNT1" "0000374077" "WNT1" "0000374078" "WNT1" "0000374079" "WNT1" "0000374080" "WNT1" "0000374081" "WNT1" "0000374082" "WNT1" "0000374083" "WNT1" "0000374084" "WNT1" "0000374085" "WNT1" "0000374086" "WNT1" "0000374087" "WNT1" "0000374088" "WNT1" "0000374089" "WNT1" "0000374090" "WNT1" "0000374091" "WNT1" "0000374092" "WNT1" "0000374093" "WNT1" "0000374094" "WNT1" "0000374095" "WNT1" "0000374096" "WNT1" "0000374097" "WNT1" "0000374098" "WNT1" "0000374099" "WNT1" "0000374100" "WNT1" "0000374101" "WNT1" "0000374102" "WNT1" "0000374103" "WNT1" "0000374104" "WNT1" "0000436412" "WNT1" ## 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 = 166 "{{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}}" "0000313711" "0" "30" "12" "49373410" "49373410" "subst" "0.00304525" "02329" "WNT1_000083" "g.49373410T>A" "" "" "" "WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48979627T>A" "" "likely benign" "" "0000313712" "0" "50" "12" "49373459" "49373459" "subst" "0" "02329" "WNT1_000084" "g.49373459C>T" "" "" "" "WNT1(NM_005430.4):c.313C>T (p.P105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48979676C>T" "" "VUS" "" "0000313713" "0" "50" "12" "49374221" "49374221" "subst" "0" "02329" "WNT1_000085" "g.49374221G>A" "" "" "" "WNT1(NM_005430.4):c.373G>A (p.A125T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48980438G>A" "" "VUS" "" "0000343323" "0" "90" "12" "49373362" "49373362" "dup" "0" "02327" "WNT1_000041" "g.49373362dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48979579dup" "" "pathogenic" "" "0000548246" "0" "50" "12" "49373410" "49373410" "subst" "0.00304525" "01804" "WNT1_000083" "g.49373410T>A" "" "" "" "WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48979627T>A" "" "VUS" "" "0000548247" "0" "70" "12" "49374349" "49374349" "subst" "0" "02329" "WNT1_000048" "g.49374349G>C" "" "" "" "WNT1(NM_005430.4):c.501G>C (p.W167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48980566G>C" "" "likely pathogenic" "" "0000548248" "0" "50" "12" "49374353" "49374353" "subst" "4.36418E-6" "02329" "WNT1_000086" "g.49374353G>A" "" "" "" "WNT1(NM_005430.4):c.505G>A (p.G169S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48980570G>A" "" "VUS" "" "0000614165" "0" "50" "12" "49373410" "49373410" "subst" "0.00304525" "01943" "WNT1_000083" "g.49373410T>A" "" "" "" "WNT1(NM_005430.3):c.264T>A (p.S88R, p.(Ser88Arg)), WNT1(NM_005430.4):c.264T>A (p.S88R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48979627T>A" "" "VUS" "" "0000653394" "0" "90" "12" "49374204" "49374204" "subst" "1.23209E-5" "03566" "WNT1_000025" "g.49374204C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48980421C>G" "" "pathogenic" "" "0000653395" "0" "90" "12" "49374987" "49374987" "subst" "8.31269E-6" "03566" "WNT1_000018" "g.49374987C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48981204C>T" "" "pathogenic" "" "0000664453" "1" "90" "12" "49373256" "49373256" "subst" "0" "00006" "WNT1_000019" "g.49373256T>C" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.48979473T>C" "" "pathogenic (recessive)" "" "0000664454" "1" "90" "12" "49374233" "49374233" "subst" "1.642E-5" "00006" "WNT1_000021" "g.49374233G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.48980450G>A" "" "pathogenic (recessive)" "" "0000664455" "1" "90" "12" "49374354" "49374354" "subst" "7.45588E-5" "00006" "WNT1_000022" "g.49374354G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.48980571G>A" "" "pathogenic (recessive)" "" "0000664461" "2" "90" "12" "49374353" "49374353" "subst" "2.61851E-5" "00006" "WNT1_000020" "g.49374353G>T" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.48980570G>T" "" "pathogenic (recessive)" "" "0000664462" "2" "90" "12" "49374354" "49374354" "subst" "7.45588E-5" "00006" "WNT1_000022" "g.49374354G>A" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.48980571G>A" "" "pathogenic (recessive)" "" "0000664463" "2" "90" "12" "49374354" "49374354" "dup" "0" "00006" "WNT1_000007" "g.49374354dup" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "506dupG" "" "Germline" "" "" "0" "" "" "g.48980571dup" "" "pathogenic (recessive)" "" "0000664514" "3" "90" "12" "49374354" "49374354" "dup" "0" "00006" "WNT1_000007" "g.49374354dup" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "506dupG" "" "Germline" "" "" "0" "" "" "g.48980571dup" "" "pathogenic (recessive)" "" "0000724065" "0" "30" "12" "49375317" "49375317" "subst" "0.000494219" "01804" "WNT1_000089" "g.49375317C>T" "" "" "" "WNT1(NM_005430.3):c.1007C>T (p.(Thr336Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730097" "3" "90" "12" "49375194" "49375194" "subst" "0" "00000" "WNT1_000006" "g.49375194C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005430.3:c.884C>A:p.(Ser295*)" "" "Germline" "" "" "0" "" "" "g.48981411C>A" "" "pathogenic (recessive)" "" "0000730098" "3" "90" "12" "49374462" "49374462" "subst" "0" "00000" "WNT1_000088" "g.49374462C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005430.3:c.614C>G:p.(Ala205Gly)" "" "Germline" "" "" "0" "" "" "g.48980679C>G" "" "likely pathogenic (recessive)" "" "0000730099" "3" "90" "12" "49375300" "49375300" "subst" "0" "00000" "WNT1_000015" "g.49375300C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_005430.3:c.990C>A:p.(Cys330*)" "" "Germline" "" "" "0" "" "" "g.48981517C>A" "" "pathogenic (recessive)" "" "0000784700" "11" "99" "12" "49372435" "49372435" "subst" "0" "03894" "WNT1_000045" "g.49372435T>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784701" "0" "95" "12" "49372439" "49372439" "del" "0" "00085" "WNT1_000053" "g.49372439del" "" "{PMID:Kuptanon 2019:30012084}" "" "6delG" "" "Germline" "" "" "0" "" "" "g.48978656del" "" "pathogenic" "" "0000784702" "11" "99" "12" "49372443" "49372443" "del" "0" "03894" "WNT1_000044" "g.49372443del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "10delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784703" "3" "95" "12" "49372541" "49372581" "del" "0" "00085" "WNT1_000062" "g.49372541_49372581del" "" "{PMID:Panigrahi 2018:29481978}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784704" "11" "99" "12" "49372538" "49372538" "subst" "9.03432E-6" "03894" "WNT1_000047" "g.49372538G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784705" "21" "95" "12" "49373249" "49373249" "subst" "0" "03894" "WNT1_000042" "g.49373249A>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784706" "11" "99" "12" "49373256" "49373256" "subst" "0" "00085" "WNT1_000019" "g.49373256T>C" "" "{PMID:Liu 2016:27450065}" "" "" "The c.110T>C variant is misreported twice as c.110G>T." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784707" "0" "99" "12" "49373330" "49373330" "subst" "0" "00085" "WNT1_000017" "g.49373330C>T" "" "{PMID:Aldinger 2015:26671912}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784708" "0" "95" "12" "49373335" "49373335" "del" "0" "03894" "WNT1_000039" "g.49373335del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "189delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784709" "11" "95" "12" "49373362" "49373362" "dup" "0" "03894" "WNT1_000041" "g.49373362dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "216dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784710" "21" "99" "12" "49373362" "49373362" "dup" "0" "03894" "WNT1_000041" "g.49373362dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "216dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784711" "3" "75" "12" "49373401" "49373401" "del" "0" "01819" "WNT1_000035" "g.49373401del" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "255delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784712" "3" "95" "12" "49373401" "49373401" "del" "0" "00085" "WNT1_000035" "g.49373401del" "" "{PMID:Nampoothiri 2019:30896082}" "" "255delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784713" "0" "99" "12" "49373405" "49373405" "subst" "0" "03704" "WNT1_000008" "g.49373405C>T" "" "{PMID:Pyott 2013:23499310}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784714" "3" "99" "12" "49373433" "49373446" "del" "0" "00085" "WNT1_000002" "g.49373433_49373446del" "" "{PMID:Fahiminiya 2013:23434763}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784715" "3" "99" "12" "49373433" "49373446" "del" "0" "03704" "WNT1_000002" "g.49373433_49373446del" "" "{PMID:Pyott 2013:23499310}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784716" "11" "99" "12" "49373447" "49373447" "subst" "0" "00085" "WNT1_000028" "g.49373447C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784717" "21" "99" "12" "49373447" "49373447" "subst" "0" "00085" "WNT1_000028" "g.49373447C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784718" "21" "99" "12" "49373447" "49373447" "subst" "0" "00085" "WNT1_000028" "g.49373447C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784719" "11" "95" "12" "49373447" "49373447" "subst" "0" "03894" "WNT1_000028" "g.49373447C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784720" "21" "95" "12" "49373447" "49373447" "subst" "0" "03894" "WNT1_000028" "g.49373447C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784721" "21" "95" "12" "49373447" "49373447" "subst" "0" "03894" "WNT1_000028" "g.49373447C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784722" "3" "95" "12" "49373452" "49373452" "subst" "0" "00085" "WNT1_000057" "g.49373452G>T" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784723" "3" "75" "12" "49373452" "49373452" "subst" "0" "00085" "WNT1_000057" "g.49373452G>T" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784724" "3" "99" "12" "49374204" "49374204" "subst" "1.23209E-5" "00085" "WNT1_000025" "g.49374204C>G" "" "{PMID:Umair 2017:28665926}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784725" "11" "95" "12" "49374217" "49374217" "subst" "0" "00085" "WNT1_000070" "g.49374217A>C" "" "{PMID:Won 2017:28528193}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784726" "11" "95" "12" "49374219" "49374219" "subst" "0" "03894" "WNT1_000049" "g.49374219C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784727" "21" "99" "12" "49374230" "49374230" "subst" "0" "00085" "WNT1_000029" "g.49374230T>G" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784728" "21" "95" "12" "49374230" "49374230" "subst" "0" "03894" "WNT1_000029" "g.49374230T>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784729" "10" "99" "12" "49374233" "49374233" "subst" "1.642E-5" "00085" "WNT1_000021" "g.49374233G>A" "" "{PMID:Liu 2016:27450065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784730" "3" "99" "12" "49374233" "49374233" "subst" "1.642E-5" "00085" "WNT1_000021" "g.49374233G>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784731" "11" "95" "12" "49374245" "49374245" "subst" "0" "00085" "WNT1_000055" "g.49374245A>T" "" "{PMID:Lu 2018:29552441}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784732" "11" "99" "12" "49374245" "49374245" "subst" "0" "00085" "WNT1_000032" "g.49374245G>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784733" "20" "99" "12" "49374245" "49374245" "subst" "0" "00085" "WNT1_000032" "g.49374245G>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784734" "11" "95" "12" "49374245" "49374245" "subst" "0" "03894" "WNT1_000032" "g.49374245G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784735" "3" "99" "12" "49374269" "49374269" "subst" "0" "00085" "WNT1_000024" "g.49374269C>T" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784736" "3" "99" "12" "49374276" "49374276" "subst" "0" "00085" "WNT1_000001" "g.49374276G>T" "" "{PMID:Fahiminiya 2013:23434763}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784737" "21" "95" "12" "49374305" "49374305" "subst" "0" "00085" "WNT1_000071" "g.49374305T>G" "" "{PMID:Won 2017:28528193}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784738" "3" "99" "12" "49374314" "49374314" "del" "0" "00085" "WNT1_000027" "g.49374314del" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784739" "3" "95" "12" "49374314" "49374314" "del" "0" "03894" "WNT1_000027" "g.49374314del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784740" "21" "95" "12" "49374348" "49374348" "dup" "0" "00085" "WNT1_000054" "g.49374348dup" "" "{PMID:Cao 2019:30913006}" "" "500dupG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784741" "21" "97" "12" "49374349" "49374349" "subst" "0" "03894" "WNT1_000048" "g.49374349G>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784742" "21" "99" "12" "49374353" "49374353" "subst" "2.61851E-5" "00085" "WNT1_000020" "g.49374353G>T" "" "{PMID:Liu 2016:27450065}" "" "110G>T" "misreported twice as 110G>T" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784744" "0" "99" "12" "49374354" "49374354" "dup" "0" "03704" "WNT1_000007" "g.49374354dup" "" "{PMID:Pyott 2013:23499310}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784745" "3" "99" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Liu 2016:27450065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784746" "21" "99" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Liu 2016:27450065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784747" "3" "99" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784748" "3" "75" "12" "49374354" "49374354" "dup" "0" "01819" "WNT1_000007" "g.49374354dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784749" "3" "75" "12" "49374354" "49374354" "dup" "0" "01819" "WNT1_000007" "g.49374354dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784750" "3" "75" "12" "49374354" "49374354" "dup" "0" "01819" "WNT1_000007" "g.49374354dup" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784751" "3" "75" "12" "49374354" "49374354" "dup" "0" "01819" "WNT1_000007" "g.49374354dup" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784752" "3" "95" "12" "49374354" "49374354" "dup" "0" "03894" "WNT1_000007" "g.49374354dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784753" "3" "95" "12" "49374354" "49374354" "dup" "0" "03894" "WNT1_000007" "g.49374354dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784754" "3" "95" "12" "49374354" "49374354" "dup" "0" "03894" "WNT1_000007" "g.49374354dup" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784755" "21" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Lu 2018:29552441}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784756" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784757" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784758" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784759" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784760" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784761" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784762" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784763" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784764" "21" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784765" "3" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784766" "0" "95" "12" "49374354" "49374354" "dup" "0" "00085" "WNT1_000007" "g.49374354dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784767" "21" "99" "12" "49374354" "49374354" "subst" "7.45588E-5" "00085" "WNT1_000022" "g.49374354G>A" "" "{PMID:Liu 2016:27450065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784768" "10" "99" "12" "49374354" "49374354" "subst" "7.45588E-5" "00085" "WNT1_000022" "g.49374354G>A" "" "{PMID:Liu 2016:27450065}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784769" "21" "95" "12" "49374354" "49374354" "subst" "7.45588E-5" "03894" "WNT1_000022" "g.49374354G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784770" "11" "95" "12" "49374354" "49374354" "subst" "7.45588E-5" "00085" "WNT1_000022" "g.49374354G>A" "" "{PMID:Cao 2019:30913006}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784771" "3" "99" "12" "49374377" "49374377" "subst" "0" "00085" "WNT1_000010" "g.49374377G>T" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784772" "3" "99" "12" "49374382" "49374393" "del" "0" "00085" "WNT1_000016" "g.49374382_49374393del" "" "{PMID:Stephen 2015:25450603}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784773" "3" "99" "12" "49374386" "49374408" "del" "0" "00085" "WNT1_000026" "g.49374386_49374408del" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784774" "0" "99" "12" "49374413" "49374413" "subst" "0" "00085" "WNT1_000012" "g.49374413G>T" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784775" "21" "95" "12" "49374468" "49374468" "subst" "0" "03894" "WNT1_000040" "g.49374468G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784776" "3" "95" "12" "49374468" "49374468" "subst" "0" "03894" "WNT1_000040" "g.49374468G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784777" "3" "95" "12" "49374468" "49374468" "subst" "0" "03894" "WNT1_000040" "g.49374468G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784778" "21" "95" "12" "49374468" "49374468" "subst" "0" "03894" "WNT1_000040" "g.49374468G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784779" "3" "99" "12" "49374476" "49374476" "subst" "0" "00085" "WNT1_000011" "g.49374476A>G" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784780" "0" "99" "12" "49374962" "49374962" "subst" "4.57247E-5" "00085" "WNT1_000014" "g.49374962T>G" "" "{PMID:Laine 2013:23656646}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784781" "10" "99" "12" "49374974" "49374974" "subst" "0" "00085" "WNT1_000082" "g.49374974G>A" "" "{PMID:Ang 2018:30364642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784782" "11" "95" "12" "49374984" "49374984" "subst" "0" "03894" "WNT1_000043" "g.49374984G>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784783" "0" "99" "12" "49374987" "49374987" "subst" "8.31269E-6" "00085" "WNT1_000018" "g.49374987C>T" "" "{PMID:Aldinger 2015:26671912}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784784" "3" "99" "12" "49374987" "49374987" "subst" "8.31269E-6" "00085" "WNT1_000018" "g.49374987C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784785" "21" "99" "12" "49374987" "49374987" "subst" "8.31269E-6" "00085" "WNT1_000018" "g.49374987C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784786" "21" "95" "12" "49374987" "49374987" "subst" "8.31269E-6" "03894" "WNT1_000018" "g.49374987C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784787" "3" "95" "12" "49374987" "49374987" "subst" "8.31269E-6" "03894" "WNT1_000018" "g.49374987C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784788" "3" "95" "12" "49374987" "49374987" "subst" "8.31269E-6" "03894" "WNT1_000018" "g.49374987C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784789" "21" "99" "12" "49374987" "49374987" "subst" "8.31269E-6" "03894" "WNT1_000018" "g.49374987C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784790" "11" "99" "12" "49374991" "49374991" "subst" "0" "00085" "WNT1_000030" "g.49374991C>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784791" "21" "99" "12" "49374991" "49374991" "subst" "0" "00085" "WNT1_000030" "g.49374991C>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784792" "11" "95" "12" "49374991" "49374991" "subst" "0" "03894" "WNT1_000030" "g.49374991C>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784793" "3" "79" "12" "49374995" "49374999" "del" "0" "01819" "WNT1_000036" "g.49374995_49374999del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784794" "3" "99" "12" "49374995" "49374999" "del" "0" "00085" "WNT1_000036" "g.49374995_49374999del" "" "{PMID:Nampoothiri 2019:30896082}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784795" "0" "99" "12" "49375013" "49375013" "subst" "0" "00085" "WNT1_000013" "g.49375013C>T" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784796" "21" "95" "12" "49375080" "49375080" "subst" "0" "03894" "WNT1_000046" "g.49375080T>C" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784797" "11" "99" "12" "49375084" "49375084" "subst" "0" "00085" "WNT1_000033" "g.49375084C>A" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784798" "11" "95" "12" "49375084" "49375084" "subst" "0" "03894" "WNT1_000033" "g.49375084C>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784799" "0" "95" "12" "49375169" "49375169" "del" "0" "00085" "WNT1_000079" "g.49375169del" "" "{PMID:Nampoothiri 2019:30896082}" "" "859delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784800" "3" "99" "12" "49375169" "49375169" "dup" "0" "00085" "WNT1_000009" "g.49375169dup" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784801" "3" "75" "12" "49375169" "49375169" "dup" "0" "01819" "WNT1_000009" "g.49375169dup" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784802" "3" "75" "12" "49375169" "49375169" "dup" "0" "01819" "WNT1_000009" "g.49375169dup" "" "{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000784803" "3" "99" "12" "49375169" "49375169" "dup" "0" "00085" "WNT1_000009" "g.49375169dup" "" "{PMID:Kantaputra 2019:30692598}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784804" "0" "95" "12" "49375169" "49375169" "dup" "0" "00085" "WNT1_000009" "g.49375169dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "859dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784805" "3" "95" "12" "49375169" "49375169" "dup" "0" "00085" "WNT1_000009" "g.49375169dup" "" "{PMID:Nampoothiri 2019:30896082}" "" "859dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784806" "3" "99" "12" "49375194" "49375194" "subst" "0" "03704" "WNT1_000006" "g.49375194C>A" "" "{PMID:Pyott 2013:23499310}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784807" "3" "99" "12" "49375194" "49375194" "subst" "0" "00085" "WNT1_000006" "g.49375194C>A" "" "{PMID:Laine 2013:23656646}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784808" "3" "99" "12" "49375203" "49375203" "subst" "0" "03704" "WNT1_000005" "g.49375203T>G" "" "{PMID:Pyott 2013:23499310}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784809" "3" "99" "12" "49375203" "49375203" "subst" "0" "00085" "WNT1_000005" "g.49375203T>G" "" "{PMID:Keupp 2013:23499309}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784810" "11" "99" "12" "49375247" "49375247" "subst" "0" "00085" "WNT1_000031" "g.49375247C>T" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784811" "11" "95" "12" "49375247" "49375247" "subst" "0" "03894" "WNT1_000031" "g.49375247C>T" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784812" "0" "99" "12" "49375256" "49375259" "dup" "0" "00085" "WNT1_000003" "g.49375256_49375259dup" "" "{PMID:Fahiminiya 2013:23434763}" "" "946_949insAACA" "946_949dup varaint incorrectly described in main text as c.946_949insAACA and in Supplemental Figure 3 as c.949_950insAACA. The resulting stop codon in the shifted reading frame is not located as shown in that same figure.; This patients family was reported in further depth as Family 3 by {PMID25010833:Palomo et al., 2014}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784813" "3" "99" "12" "49375280" "49375280" "subst" "0" "00085" "WNT1_000050" "g.49375280G>T" "" "{PMID:Kausar 2018:30447692}" "" "" "The reported transcript-level variant description (c.1168G>T) is incorrect. The authors appear to have counted from the 5´ end of the reference sequence, rather than from the start of translation.; This error was later corrected: {PMID31030663:Kausar et al., 2019}.; The parents are related." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784814" "3" "99" "12" "49375300" "49375300" "subst" "0" "00085" "WNT1_000015" "g.49375300C>A" "" "{PMID:Faqeih 2013:23709755}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784815" "11" "99" "12" "49375320" "49375320" "subst" "0" "00085" "WNT1_000034" "g.49375320G>C" "" "{PMID:Lu 2018:29935254}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784816" "0" "99" "12" "49375336" "49375336" "del" "0" "00085" "WNT1_000023" "g.49375336del" "" "" "" "1026delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784817" "11" "99" "12" "49375361" "49375361" "subst" "0" "00085" "WNT1_000037" "g.49375361T>C" "" "{PMID:Alhamdi 2018:30246918}" "" "" "harbours a de novo 434 kb duplication of 22q11.2" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000784818" "0" "99" "12" "49375373" "49375373" "subst" "0" "00085" "WNT1_000004" "g.49375373G>T" "" "{PMID:Fahiminiya 2013:23434763}" "" "" "The c.946_949dup varaint is incorrectly described in the main text of the paper as c.946_949insAACA and in Supplemental Figure 3 as c.949_950insAACA. The resulting stop codon in the shifted reading frame is not located as shown in that same figure.; This patients family was reported in further depth as Family 3 by {PMID25010833:Palomo et al., 2014}." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000862997" "0" "50" "12" "49373414" "49373414" "subst" "0" "02329" "WNT1_000090" "g.49373414G>A" "" "" "" "WNT1(NM_005430.4):c.268G>A (p.V90M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890588" "0" "90" "12" "49374962" "49374962" "subst" "4.57247E-5" "02329" "WNT1_000014" "g.49374962T>G" "" "" "" "WNT1(NM_005430.4):c.652T>G (p.C218G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890589" "0" "30" "12" "49375084" "49375084" "subst" "0" "02329" "WNT1_000091" "g.49375084C>T" "" "" "" "WNT1(NM_005430.4):c.774C>T (p.Y258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890590" "0" "50" "12" "49375088" "49375088" "subst" "0" "02329" "WNT1_000092" "g.49375088A>C" "" "" "" "WNT1(NM_005430.4):c.778A>C (p.N260H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890591" "0" "90" "12" "49375343" "49375343" "subst" "0" "02329" "WNT1_000093" "g.49375343T>G" "" "" "" "WNT1(NM_005430.4):c.1033T>G (p.C345G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918407" "3" "90" "12" "49374987" "49374987" "subst" "8.31269E-6" "04465" "WNT1_000018" "g.49374987C>T" "" "{PMID:Chen 2020:32529806}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922794" "21" "90" "12" "49374468" "49374468" "subst" "0" "04465" "WNT1_000040" "g.49374468G>A" "" "{PMID:Zhu 2023:36873675}" "" "" "Patient is compound heterozygote for this gene" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922795" "11" "90" "12" "49374987" "49374987" "subst" "8.31269E-6" "04465" "WNT1_000018" "g.49374987C>T" "" "{PMID:Zhu 2023:36873675}" "" "" "Patient is compound heterozygote for this gene" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000925636" "0" "50" "12" "49374999" "49374999" "subst" "0.000142062" "01804" "WNT1_000094" "g.49374999G>A" "" "" "" "WNT1(NM_005430.3):c.689G>A (p.(Arg230His)), WNT1(NM_005430.4):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927585" "3" "90" "12" "49375254" "49375254" "del" "0" "04465" "WNT1_000095" "g.49375254del" "" "{PMID:Cavdartepe 2023:37064339}" "" "" "" "Germline" "" "" "0" "" "" "g.48981471del" "" "pathogenic (recessive)" "" "0000927586" "3" "90" "12" "49375254" "49375254" "del" "0" "04465" "WNT1_000095" "g.49375254del" "" "{PMID:Çavdartepe 2023:37064339}" "" "" "" "Germline" "" "" "0" "" "" "g.48981471del" "" "pathogenic (recessive)" "" "0000949960" "0" "50" "12" "49375064" "49375064" "subst" "0.000493385" "01804" "WNT1_000096" "g.49375064G>C" "" "" "" "WNT1(NM_005430.3):c.754G>C (p.(Gly252Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980287" "0" "50" "12" "49374330" "49374330" "subst" "0" "01804" "WNT1_000097" "g.49374330G>A" "" "" "" "WNT1(NM_005430.4):c.482G>A (p.(Gly161Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980288" "0" "90" "12" "49374354" "49374354" "subst" "7.45588E-5" "01804" "WNT1_000022" "g.49374354G>A" "" "" "" "WNT1(NM_005430.4):c.506G>A (p.(Gly169Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980289" "0" "50" "12" "49374999" "49374999" "subst" "0.000142062" "02329" "WNT1_000094" "g.49374999G>A" "" "" "" "WNT1(NM_005430.3):c.689G>A (p.(Arg230His)), WNT1(NM_005430.4):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980290" "0" "50" "12" "49375104" "49375104" "subst" "0" "02329" "WNT1_000098" "g.49375104G>C" "" "" "" "WNT1(NM_005430.4):c.794G>C (p.R265P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980291" "0" "70" "12" "49375343" "49375343" "subst" "0" "02327" "WNT1_000093" "g.49375343T>G" "" "" "" "WNT1(NM_005430.4):c.1033T>G (p.C345G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000072" "0" "30" "12" "49373388" "49373388" "subst" "0" "01804" "WNT1_000099" "g.49373388G>C" "" "" "" "WNT1(NM_005430.3):c.242G>C (p.(Ser81Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000073" "0" "50" "12" "49374353" "49374353" "subst" "2.61851E-5" "01804" "WNT1_000020" "g.49374353G>T" "" "" "" "WNT1(NM_005430.3):c.505G>T (p.(Gly169Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000074" "0" "50" "12" "49374389" "49374389" "subst" "0.000297812" "02329" "WNT1_000100" "g.49374389G>A" "" "" "" "WNT1(NM_005430.4):c.541G>A (p.G181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011366" "0" "50" "12" "49375052" "49375052" "subst" "1.35813E-5" "03779" "WNT1_000101" "g.49375052G>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs770395931" "0" "" "" "" "" "VUS" "" "0001039252" "0" "50" "12" "49375253" "49375253" "subst" "0" "01804" "WNT1_000102" "g.49375253T>G" "" "" "" "WNT1(NM_005430.4):c.943T>G (p.(Cys315Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048318" "3" "70" "12" "49374207" "49374207" "subst" "0" "00006" "WNT1_000103" "g.49374207G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.48980424G>A" "" "likely pathogenic" "" "0001048319" "3" "70" "12" "49374207" "49374207" "subst" "0" "00006" "WNT1_000103" "g.49374207G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.48980424G>A" "" "likely pathogenic" "" "0001054305" "0" "50" "12" "49373292" "49373292" "subst" "8.13835E-6" "01804" "WNT1_000104" "g.49373292A>C" "" "" "" "WNT1(NM_005430.4):c.146A>C (p.(Asp49Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054306" "0" "50" "12" "49373364" "49373364" "subst" "0" "01804" "WNT1_000105" "g.49373364G>A" "" "" "" "WNT1(NM_005430.4):c.218G>A (p.(Arg73His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054307" "0" "50" "12" "49375065" "49375065" "subst" "1.93832E-5" "01804" "WNT1_000106" "g.49375065G>C" "" "" "" "WNT1(NM_005430.4):c.755G>C (p.(Gly252Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes WNT1 ## Count = 166 "{{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}}" "0000313711" "00022851" "30" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Ser88Arg)" "" "0000313712" "00022851" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Pro105Ser)" "" "0000313713" "00022851" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Ala125Thr)" "" "0000343323" "00022851" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Arg73ThrfsTer82)" "" "0000548246" "00022851" "50" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Ser88Arg)" "" "0000548247" "00022851" "70" "501" "0" "501" "0" "c.501G>C" "r.(?)" "p.(Trp167Cys)" "" "0000548248" "00022851" "50" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Ser)" "" "0000614165" "00022851" "50" "264" "0" "264" "0" "c.264T>A" "r.(?)" "p.(Ser88Arg)" "" "0000653394" "00022851" "90" "359" "-3" "359" "-3" "c.359-3C>G" "r.spl?" "p.?" "" "0000653395" "00022851" "90" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "" "0000664453" "00022851" "90" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "2" "0000664454" "00022851" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "3" "0000664455" "00022851" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000664461" "00022851" "90" "505" "0" "505" "0" "c.505G>T" "r.(?)" "p.(Gly169Cys)" "3" "0000664462" "00022851" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000664463" "00022851" "90" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000664514" "00022851" "90" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000724065" "00022851" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Thr336Met)" "" "0000730097" "00022851" "90" "884" "0" "884" "0" "c.884C>A" "r.(?)" "p.(Ser295*)" "" "0000730098" "00022851" "90" "614" "0" "614" "0" "c.614C>G" "r.(?)" "p.(Ala205Gly)" "" "0000730099" "00022851" "90" "990" "0" "990" "0" "c.990C>A" "r.(?)" "p.(Cys330*)" "" "0000784700" "00022851" "99" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000784701" "00022851" "95" "6" "0" "6" "0" "c.6del" "r.(?)" "p.(Leu3Serfs*36)" "1" "0000784702" "00022851" "99" "10" "0" "10" "0" "c.10del" "r.(?)" "p.(Trp4Glyfs*35)" "1" "0000784703" "00022851" "95" "104" "4" "104" "44" "c.104+4_104+44del" "r.spl" "p.?" "1" "0000784704" "00022851" "99" "104" "1" "104" "1" "c.104+1G>A" "r.spl" "p.?" "1i" "0000784705" "00022851" "95" "105" "-2" "105" "-2" "c.105-2A>G" "r.spl" "p.?" "1i" "0000784706" "00022851" "99" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "2" "0000784707" "00022851" "99" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "2" "0000784708" "00022851" "95" "189" "0" "189" "0" "c.189del" "r.(?)" "p.(Leu64*)" "2" "0000784709" "00022851" "95" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Arg73Thrfs*82)" "2" "0000784710" "00022851" "99" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Arg73Thrfs*82)" "2" "0000784711" "00022851" "75" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Leu86Cysfs*)" "2" "0000784712" "00022851" "95" "255" "0" "255" "0" "c.255del" "r.(?)" "p.(Leu86Cysfs*)" "2" "0000784713" "00022851" "99" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Gln87*)" "2" "0000784714" "00022851" "99" "287" "0" "300" "0" "c.287_300del" "r.(?)" "p.(Gln96Profs*54)" "2" "0000784715" "00022851" "99" "287" "0" "300" "0" "c.287_300del" "r.(?)" "p.(Gln96Profs*54)" "2" "0000784716" "00022851" "99" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784717" "00022851" "99" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784718" "00022851" "99" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784719" "00022851" "95" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784720" "00022851" "95" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784721" "00022851" "95" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Cys)" "2" "0000784722" "00022851" "95" "306" "0" "306" "0" "c.306G>T" "r.(?)" "p.(Trp102Cys)" "2" "0000784723" "00022851" "75" "306" "0" "306" "0" "c.306G>T" "r.(?)" "p.(Trp102Cys)" "2" "0000784724" "00022851" "99" "359" "-3" "359" "-3" "c.359-3C>G" "r.spl" "p.?" "2i" "0000784725" "00022851" "95" "369" "0" "369" "0" "c.369A>C" "r.(?)" "p.(Glu123Asp)" "3" "0000784726" "00022851" "95" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Met)" "3" "0000784727" "00022851" "99" "382" "0" "382" "0" "c.382T>G" "r.(?)" "p.(Phe128Val)" "3" "0000784728" "00022851" "95" "382" "0" "382" "0" "c.382T>G" "r.(?)" "p.(Phe128Val)" "3" "0000784729" "00022851" "99" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "3" "0000784730" "00022851" "99" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "3" "0000784731" "00022851" "95" "397" "0" "397" "0" "c.397A>T" "r.(?)" "(p.Ala133Thr)" "3" "0000784732" "00022851" "99" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "3" "0000784733" "00022851" "99" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "3" "0000784734" "00022851" "95" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "3" "0000784735" "00022851" "99" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Cys)" "3" "0000784736" "00022851" "99" "428" "0" "428" "0" "c.428G>T" "r.(?)" "p.(Cys143Phe)" "3" "0000784737" "00022851" "95" "457" "0" "457" "0" "c.457T>G" "r.(?)" "p.(Cys153Gly)" "3" "0000784738" "00022851" "99" "466" "0" "466" "0" "c.466del" "r.(?)" "p.(Arg156Glyfs*43)" "3" "0000784739" "00022851" "95" "466" "0" "466" "0" "c.466del" "r.(?)" "p.(Arg156Glyfs*43)" "3" "0000784740" "00022851" "95" "500" "0" "500" "0" "c.500dup" "r.(?)" "Cys170Leufs*6" "3" "0000784741" "00022851" "97" "501" "0" "501" "0" "c.501G>C" "r.(?)" "p.(Trp167Cys)" "3" "0000784742" "00022851" "99" "505" "0" "505" "0" "c.505G>T" "r.(?)" "p.(Gly169Cys)" "3" "0000784744" "00022851" "99" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784745" "00022851" "99" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784746" "00022851" "99" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784747" "00022851" "99" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784748" "00022851" "75" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784749" "00022851" "75" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784750" "00022851" "75" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784751" "00022851" "75" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784752" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784753" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784754" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784755" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784756" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784757" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784758" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784759" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784760" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784761" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784762" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784763" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784764" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784765" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784766" "00022851" "95" "506" "0" "506" "0" "c.506dup" "r.(?)" "p.(Cys170Leufs*6)" "3" "0000784767" "00022851" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000784768" "00022851" "99" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000784769" "00022851" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000784770" "00022851" "95" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "3" "0000784771" "00022851" "99" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Gly177Cys)" "3" "0000784772" "00022851" "99" "534" "0" "545" "0" "c.534_545del" "r.(?)" "p.(Leu179_Arg182del)" "3" "0000784773" "00022851" "99" "538" "0" "560" "0" "c.538_560del" "r.(?)" "p.(Phe180Argfs*129)" "3" "0000784774" "00022851" "99" "565" "0" "565" "0" "c.565G>T" "r.(?)" "p.(Glu189*)" "3" "0000784775" "00022851" "95" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "3" "0000784776" "00022851" "95" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "3" "0000784777" "00022851" "95" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "3" "0000784778" "00022851" "95" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "3" "0000784779" "00022851" "99" "624" "4" "624" "4" "c.624+4A>G" "r.spl" "p.?" "3i" "0000784780" "00022851" "99" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Cys218Gly)" "4" "0000784781" "00022851" "99" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.?" "4" "0000784782" "00022851" "95" "674" "0" "674" "0" "c.674G>T" "r.(?)" "p.(Gly225Val)" "4" "0000784783" "00022851" "99" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784784" "00022851" "99" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784785" "00022851" "99" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784786" "00022851" "95" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784787" "00022851" "95" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784788" "00022851" "95" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784789" "00022851" "99" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "4" "0000784790" "00022851" "99" "681" "0" "681" "0" "c.681C>A" "r.(?)" "p.(Cys227*)" "4" "0000784791" "00022851" "99" "681" "0" "681" "0" "c.681C>A" "r.(?)" "p.(Cys227*)" "4" "0000784792" "00022851" "95" "681" "0" "681" "0" "c.681C>A" "r.(?)" "p.(Cys227*)" "4" "0000784793" "00022851" "79" "685" "0" "689" "0" "c.685_689del" "r.(?)" "p.(Val229Hisfs*)" "4" "0000784794" "00022851" "99" "685" "0" "689" "0" "c.685_689del" "r.(?)" "p.(Val229Hisfs*)" "4" "0000784795" "00022851" "99" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "4" "0000784796" "00022851" "95" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Leu257Pro)" "4" "0000784797" "00022851" "99" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "4" "0000784798" "00022851" "95" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "4" "0000784799" "00022851" "95" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(His287Thrfs*106)" "4" "0000784800" "00022851" "99" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784801" "00022851" "75" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784802" "00022851" "75" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784803" "00022851" "99" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784804" "00022851" "95" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784805" "00022851" "95" "859" "0" "859" "0" "c.859dup" "r.(?)" "p.(His287Profs*30)" "4" "0000784806" "00022851" "99" "884" "0" "884" "0" "c.884C>A" "r.(?)" "p.(Ser295*)" "4" "0000784807" "00022851" "99" "884" "0" "884" "0" "c.884C>A" "r.(?)" "p.(Ser295*)" "4" "0000784808" "00022851" "99" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Phe298Cys)" "4" "0000784809" "00022851" "99" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Phe298Cys)" "4" "0000784810" "00022851" "99" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "4" "0000784811" "00022851" "95" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Arg313Cys)" "4" "0000784812" "00022851" "99" "946" "0" "949" "0" "c.946_949dup" "r.(?)" "p.(Ser317Lysfs*153)" "4" "0000784813" "00022851" "99" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.Gly324Cys" "4" "0000784814" "00022851" "99" "990" "0" "990" "0" "c.990C>A" "r.(?)" "p.(Cys330*)" "4" "0000784815" "00022851" "99" "1010" "0" "1010" "0" "c.1010G>C" "r.(?)" "p.(Arg337Pro)" "4" "0000784816" "00022851" "99" "1026" "0" "1026" "0" "c.1026del" "r.(?)" "p.(Glu343Serfs*50)" "4" "0000784817" "00022851" "99" "1051" "0" "1051" "0" "c.1051T>C" "r.(?)" "p.(Trp351Arg)" "4" "0000784818" "00022851" "99" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Val355Phe)" "4" "0000862997" "00022851" "50" "268" "0" "268" "0" "c.268G>A" "r.(?)" "p.(Val90Met)" "" "0000890588" "00022851" "90" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Cys218Gly)" "" "0000890589" "00022851" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Tyr258=)" "" "0000890590" "00022851" "50" "778" "0" "778" "0" "c.778A>C" "r.(?)" "p.(Asn260His)" "" "0000890591" "00022851" "90" "1033" "0" "1033" "0" "c.1033T>G" "r.(?)" "p.(Cys345Gly)" "" "0000918407" "00022851" "90" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "" "0000922794" "00022851" "90" "620" "0" "620" "0" "c.620G>A" "r.(?)" "p.(Arg207His)" "" "0000922795" "00022851" "90" "677" "0" "677" "0" "c.677C>T" "r.(?)" "p.(Ser226Leu)" "" "0000925636" "00022851" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000927585" "00022851" "90" "944" "0" "944" "0" "c.944del" "r.(?)" "p.(Cys315Leufs*78)" "" "0000927586" "00022851" "90" "944" "0" "944" "0" "c.944del" "r.(?)" "p.(Cys315Leufs*78)" "" "0000949960" "00022851" "50" "754" "0" "754" "0" "c.754G>C" "r.(?)" "p.(Gly252Arg)" "" "0000980287" "00022851" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Gly161Glu)" "" "0000980288" "00022851" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Gly169Asp)" "" "0000980289" "00022851" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000980290" "00022851" "50" "794" "0" "794" "0" "c.794G>C" "r.(?)" "p.(Arg265Pro)" "" "0000980291" "00022851" "70" "1033" "0" "1033" "0" "c.1033T>G" "r.(?)" "p.(Cys345Gly)" "" "0001000072" "00022851" "30" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Ser81Thr)" "" "0001000073" "00022851" "50" "505" "0" "505" "0" "c.505G>T" "r.(?)" "p.(Gly169Cys)" "" "0001000074" "00022851" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Gly181Ser)" "" "0001011366" "00022851" "50" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Asp248Tyr)" "" "0001039252" "00022851" "50" "943" "0" "943" "0" "c.943T>G" "r.(?)" "p.(Cys315Gly)" "" "0001048318" "00022851" "70" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Asp)" "" "0001048319" "00022851" "70" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Asp)" "" "0001054305" "00022851" "50" "146" "0" "146" "0" "c.146A>C" "r.(?)" "p.(Asp49Ala)" "" "0001054306" "00022851" "50" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Arg73His)" "" "0001054307" "00022851" "50" "755" "0" "755" "0" "c.755G>C" "r.(?)" "p.(Gly252Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 137 "{{screeningid}}" "{{variantid}}" "0000296701" "0000653394" "0000296702" "0000653395" "0000301503" "0000664453" "0000301503" "0000664461" "0000301504" "0000664454" "0000301504" "0000664462" "0000301505" "0000664455" "0000301505" "0000664463" "0000301556" "0000664514" "0000332815" "0000730097" "0000332816" "0000730098" "0000332817" "0000730099" "0000374013" "0000784700" "0000374013" "0000784710" "0000374014" "0000784701" "0000374015" "0000784702" "0000374015" "0000784789" "0000374016" "0000784703" "0000374017" "0000784704" "0000374017" "0000784741" "0000374018" "0000784705" "0000374018" "0000784782" "0000374019" "0000784706" "0000374019" "0000784742" "0000374020" "0000784707" "0000374020" "0000784783" "0000374021" "0000784708" "0000374021" "0000784775" "0000374022" "0000784709" "0000374022" "0000784769" "0000374023" "0000784711" "0000374024" "0000784712" "0000374025" "0000784713" "0000374025" "0000784744" "0000374026" "0000784714" "0000374027" "0000784715" "0000374028" "0000784716" "0000374028" "0000784727" "0000374029" "0000784717" "0000374029" "0000784790" "0000374030" "0000784718" "0000374030" "0000784810" "0000374031" "0000784719" "0000374031" "0000784728" "0000374032" "0000784720" "0000374032" "0000784792" "0000374033" "0000784721" "0000374033" "0000784811" "0000374034" "0000784722" "0000374035" "0000784723" "0000374036" "0000784724" "0000374037" "0000784725" "0000374037" "0000784737" "0000374038" "0000784726" "0000374038" "0000784778" "0000374039" "0000784729" "0000374039" "0000784767" "0000374040" "0000784730" "0000374041" "0000784731" "0000374041" "0000784755" "0000374042" "0000784732" "0000374042" "0000784785" "0000374043" "0000784733" "0000374043" "0000784797" "0000374044" "0000784734" "0000374044" "0000784786" "0000374045" "0000784735" "0000374046" "0000784736" "0000374047" "0000784738" "0000374048" "0000784739" "0000374049" "0000784740" "0000374049" "0000784770" "0000374051" "0000784745" "0000374052" "0000784746" "0000374052" "0000784768" "0000374053" "0000784747" "0000374054" "0000784748" "0000374055" "0000784749" "0000374056" "0000784750" "0000374057" "0000784751" "0000374058" "0000784752" "0000374059" "0000784753" "0000374060" "0000784754" "0000374061" "0000784756" "0000374062" "0000784757" "0000374063" "0000784758" "0000374064" "0000784759" "0000374065" "0000784760" "0000374066" "0000784761" "0000374067" "0000784762" "0000374068" "0000784763" "0000374069" "0000784764" "0000374070" "0000784765" "0000374071" "0000784766" "0000374072" "0000784771" "0000374073" "0000784772" "0000374074" "0000784773" "0000374075" "0000784774" "0000374076" "0000784776" "0000374077" "0000784777" "0000374078" "0000784779" "0000374079" "0000784780" "0000374080" "0000784781" "0000374081" "0000784784" "0000374082" "0000784787" "0000374083" "0000784788" "0000374084" "0000784791" "0000374084" "0000784815" "0000374085" "0000784793" "0000374086" "0000784794" "0000374087" "0000784795" "0000374088" "0000784796" "0000374088" "0000784798" "0000374089" "0000784799" "0000374090" "0000784800" "0000374091" "0000784801" "0000374092" "0000784802" "0000374093" "0000784803" "0000374094" "0000784804" "0000374095" "0000784805" "0000374096" "0000784806" "0000374097" "0000784807" "0000374098" "0000784808" "0000374099" "0000784809" "0000374100" "0000784812" "0000374100" "0000784818" "0000374101" "0000784813" "0000374102" "0000784814" "0000374103" "0000784816" "0000374104" "0000784817" "0000432797" "0000918407" "0000436412" "0000922794" "0000436412" "0000922795" "0000436567" "0000927585" "0000436568" "0000927586" "0000468484" "0001048318" "0000468485" "0001048319"