![](\"gfx/LOVD_logo_OIFE.png\"){kind=logo}
Osteogenesis Imperfecta Federation Europe (OIFE)" "" "g" "https://databases.lovd.nl/shared/refseq/FKBP10_codingDNA.html" "1" "" "![](\"gfx/LOVD_logo_IDdatabase.png\"){kind=logo}
Osteogenesis Imperfecta Variant Database\r\n" "-1" "" "-1" "00001" "2009-11-11 00:00:00" "00085" "2022-04-05 12:56:04" "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}}" "00007986" "FKBP10" "FK506 binding protein 10, 65 kDa" "001" "NM_021939.3" "" "NP_068758.3" "" "" "" "-325" "2558" "1749" "39968962" "39979469" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "02999" "OI11" "osteogenesis imperfecta type XI (OI11)" "AR" "610968" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-16 09:09:05" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04478" "BRKS1" "Bruck syndrome, type 1 (BRKS1)" "AR" "259450" "" "" "" "00000" "2015-09-23 10:25:22" "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" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05734" "BRKS" "Bruck syndrome (BRKS)" "" "" "" "" "" "00006" "2020-04-30 17:10:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FKBP10" "02999" "FKBP10" "04478" "FKBP10" "05296" "FKBP10" "05734" ## Individuals ## Do not remove or alter this header ## ## Count = 167 "{{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}}" "00291707" "" "" "" "176" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291708" "" "" "" "48" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291709" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300317" "" "" "" "1" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, 1 affected, second cousin parents" "M" "yes" "Egypt" "" "0" "" "" "" "Fam1Case1" "00300318" "" "" "" "2" "" "00006" "{PMID:Puig-Hervas 2012:22689593}" "2-generation family, affected twin sisters, first cousin parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam2Case2" "00300326" "" "" "" "1" "" "00006" "{PMID:Zhou 2014:25238597}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Fam1Pat1" "00300345" "" "" "" "1" "" "00006" "{PMID:Santana 2019:31001443}" "" "M" "" "United States" "" "0" "" "" "" "Case3" "00300376" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam30" "00300377" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "" "" "China" "" "0" "" "" "" "Fam31" "00300433" "" "" "" "1" "" "00006" "{PMID:Liu 2017:28725987}" "analysis 101 unrelated OI families" "F" "" "China" "" "0" "" "" "" "Fam86" "00304576" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327451" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "M" "" "Turkey" "" "0" "" "" "" "B36" "00327452" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B37" "00327453" "" "" "" "1" "" "00006" "{PMID:Demir 2021:33470886}" "analysis 43 OI patients" "F" "" "Turkey" "" "0" "" "" "" "B38" "00331449" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "13DG0272" "00331450" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "" "" "" "0" "" "" "Arab" "09DG01090, 09DG01091" "00331451" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "10DG1368" "00331452" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "11DG0234" "00331453" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "11DG2194" "00331454" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "14DG0651" "00331455" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "14DG1580" "00373170" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family O" "00373171" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Egypt" "" "0" "" "" "" "Family 5" "00373172" "" "" "" "1" "" "00085" "{PMID:Trancozo 2019:31429852}" "" "" "" "Brazil" "" "0" "" "" "" "P.27" "00373173" "" "" "" "1" "" "00085" "{PMID:Kelley 2011:20839288}" "The parents are consanguineous.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "" "yes" "" "" "0" "" "" "Punjabi" "Case 2" "00373174" "" "" "" "1" "" "00085" "{PMID:Trancozo 2019:31429852}" "" "" "" "Brazil" "" "0" "" "" "" "P.28" "00373175" "" "" "" "1" "" "00085" "{PMID:Moravej 2015:25931047}" "The parents of the proband are first cousins." "" "yes" "Iran" "" "0" "" "" "" "" "00373176" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Somalia" "" "0" "" "" "Africa-E" "Family P" "00373177" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 1004" "00373178" "" "" "" "1" "" "03704" "{PMID:Alanay 2010:20362275}" "There is a founder effect for this variant which was detected in the five Turkish families described in the paper.; The variant is mistakenly described at the protein level as p.Gly107_Leu117del." "" "" "Turkey" "" "0" "" "" "" "" "00373179" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family Q" "00373180" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "This patient was previously described by {PMID9129737:McPherson and Clemens 1997}." "" "" "" "" "0" "" "" "" "Family R" "00373181" "" "" "" "1" "" "00085" "{PMID:Xu 2017:27762305}" "" "" "" "China" "" "0" "" "" "Han" "Family 1" "00373182" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373183" "" "" "" "1" "" "00085" "{PMID:Kelley 2011:20839288}" "" "" "" "" "" "0" "" "" "white" "Case 6" "00373184" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "The three affected individuals in this family have been described previously by {PMID9481655:Breslau-Siderius et al., 1998} and {PMID9927692:Bank et al., 1999}." "" "" "" "" "0" "" "" "Kurdish" "Family K" "00373185" "" "" "" "1" "" "00085" "{PMID:Umair 2016:26538303}" "" "" "" "Pakistan" "" "0" "" "" "" "Family B" "00373186" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00373187" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "" "" "Palestine" "" "0" "" "" "" "AN_005833" "00373188" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "This patient might be related to patient AN_005833 who is homozygous for the same variant and is also from the same city." "" "" "Palestine" "" "0" "" "" "" "AN_005834" "00373189" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family S" "00373190" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00373192" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.1" "00373193" "" "" "" "1" "" "00085" "{PMID:Setijowati 2011:22085994}" "The parents of the patient are second cousins." "" "yes" "Indonesia" "" "0" "" "" "" "" "00373194" "" "" "" "1" "" "00085" "{PMID:Velasco and Morales, 2017:29158687}" "The parents are first cousins. The authors also report that their patient has a type III OI phenotype." "" "yes" "Colombia" "" "0" "" "" "" "" "00373195" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Lebanon" "" "0" "" "" "" "Family 6" "00373196" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373197" "" "" "" "1" "" "00085" "{PMID:Shaheen 2011:21567934}" "The parents are consanguineous and there is phenotypic variability between the proband and her older sister as well as with affected cousins.; This patients family has the ID OI_F1 ({PMID23054245:Shaheen et al., 2012})." "" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 1" "00373198" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "Both affected individuals in this family are described as having OI III rather than Bruck syndrome." "" "" "" "" "0" "" "" "" "Family M" "00373199" "" "" "" "1" "" "00085" "{PMID:Zhou 2014:25238597}" "" "" "" "China" "" "0" "" "" "" "Family 1" "00373200" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00373201" "" "" "" "1" "" "00085" "{PMID:Zhang 2018:29512769}" "" "" "" "China" "" "0" "" "" "" "Family 3" "00373202" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373203" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373204" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373205" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373207" "" "" "" "1" "" "03704" "{PMID:Alanay 2010:20362275}" "" "" "" "Turkey" "" "0" "" "" "" "" "00373208" "" "" "" "1" "" "00085" "{PMID:Kelley 2011:20839288}" "The parents are first cousins.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "" "yes" "Turkey" "" "0" "" "" "" "Case 1" "00373209" "" "" "" "1" "" "00085" "{PMID:Kelley 2011:20839288}" "The parents are consanguineous. There is variable expressivity in the family: the elder sister (Case 4) has a phenotype more consistent with type III OI. The clinical histories of cases 3 and 4 have been reported previously by {PMID:Mokete et al., 2005:16307191}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "" "yes" "South Africa" "" "0" "" "" "Venda" "Case 3" "00373210" "" "" "" "1" "" "00085" "{PMID:Kelley 2011:20839288}" "The clinical history of the patient has been described twice before by {PMID2766569:Viljoen et al., 1989} and by {PMID:Mokete et al., 2005:16307191}.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "" "" "South Africa" "" "0" "" "" "" "Case 5" "00373211" "" "" "" "1" "" "00085" "{PMID:Shaheen 2011:21567934}" "The parents are first cousins with three noenatal deaths with frcatures and presumed diagnosis of OI." "" "yes" "Saudi Arabia" "" "0" "" "" "" "Family 2" "00373212" "" "" "" "1" "" "03864" "{PMID:Caparrós-Martin 2013:23613367}" "proband, older sister (AN_002118) has the phenotype of type III OI." "" "" "Sudan" "" "0" "" "" "" "Family 7" "00373213" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family N" "00373214" "" "" "" "1" "" "00085" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family U" "00373215" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family T" "00373216" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "Samoa;Europe" "Family C" "00373217" "" "" "" "1" "" "00085" "{PMID:Umair 2016:26538303}" "Affected members of the family are descibed as having severe progressive OI." "" "" "Pakistan" "" "0" "" "" "" "Family C" "00373218" "" "" "" "1" "" "00085" "{PMID:Kaneto 2016:27146342}" "" "" "" "" "" "0" "" "" "" "" "00373219" "" "" "" "1" "" "00085" "{PMID:Xu 2017:27762305}" "" "" "" "China" "" "0" "" "" "Han" "Family 3" "00373220" "" "" "" "1" "" "00085" "{PMID:Alabdullatif 2016:27717089}" "" "" "" "" "" "0" "" "" "" "227" "00373221" "" "" "" "1" "" "00085" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Egypt" "" "0" "" "" "" "No. 85" "00373222" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P2" "00373224" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "" "" "0" "" "" "" "" "00373225" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373226" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373227" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373228" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373229" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Xhosa)" "" "00373230" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373231" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373232" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373233" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373234" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373235" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373236" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Xhosa)" "" "00373237" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Xhosa)" "" "00373238" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Xhosa)" "" "00373239" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373240" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373241" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373242" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373243" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373244" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373245" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373246" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373247" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "" "" "0" "" "" "Pedi" "" "00373248" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Tsonga)" "" "00373249" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373250" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Sotho)" "" "00373251" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373252" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Xhosa)" "" "00373253" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu(Tswana/Sotho)" "" "00373254" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu(Tswana/Sotho)" "" "00373255" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Zulu)" "" "00373256" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Tsonga)" "" "00373257" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Tsonga)" "" "00373258" "" "" "" "1" "" "00085" "{PMID:Vorster 2017:28492130}" "" "" "" "South Africa" "" "0" "" "" "Bantu (Tsonga)" "" "00373259" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.2" "00373260" "" "" "" "1" "" "03863" "Barnes 2012, ASHG2012:120120601" "patient is also known as Proband 1 and has an affected sibling, proband 2 (AN_002005).; This individual is also described as Proband 1 (K2-II.1) in {PMID23712425:Barnes et al., 2013}." "" "" "" "" "0" "" "" "Eskimo-Yup\'ik" "" "00373261" "" "" "" "1" "" "03863" "{PMID:Barnes 2013:23712425}" "patient is also known as Proband 3 (K3-III.5) and has an affected sibling, proband 4 (AN_002006)." "" "" "" "" "0" "" "" "Eskimo-Yup\'ik" "" "00373262" "" "" "" "1" "" "03863" "{PMID:Barnes 2013:23712425}" "individual is Proband 5 (K5-II.8)." "" "" "" "" "0" "" "" "Eskimo-Yup\'ik" "" "00373263" "" "" "" "1" "" "00085" "{PMID:Xu 2017:27762305}" "The family in this study was presented again as Family 31 by {PMID28725987:Liu et al., 2017}." "" "" "China" "" "0" "" "" "Han" "Family 2" "00373264" "" "" "" "1" "" "03894" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "China" "" "0" "" "" "" "" "00373265" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family A" "00373266" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "There is marked phenotypic variability in this family." "" "" "Samoa" "" "0" "" "" "" "Family B" "00373267" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family D" "00373268" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family E" "00373269" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family F" "00373270" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family G" "00373271" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family H" "00373272" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family I" "00373273" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "Samoa" "" "0" "" "" "" "Family J" "00373274" "" "" "" "1" "" "00085" "Le Merrer 2010, ASHG 2010:21949" "The patient is described as having a severe form of OI." "" "" "" "" "0" "" "" "" "" "00373275" "" "" "" "1" "" "00085" "{PMID:Seyedhassani 2016:27362741}" "The parents are third-degree consanguineous." "" "yes" "Iran" "" "0" "" "" "" "" "00373276" "" "" "" "1" "" "00085" "{PMID:Shaheen 2010:20696291}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00373277" "" "" "" "1" "" "00085" "" "" "" "" "" "" "0" "" "" "" "" "00373278" "" "" "" "1" "" "00085" "{PMID:Steinlein 2011:22107750}" "The parents are not known to be related but are from neighbouring small villages in Bavaria." "" "" "Germany" "" "0" "" "" "" "" "00373279" "" "" "" "1" "" "00085" "{PMID:Maghami 2018:29801479}" "" "" "yes" "Iran" "" "0" "" "" "" "" "00373280" "" "" "" "1" "" "01819" "{PMID:Essawi 2018:29150909}" "" "M" "yes" "Palestine" "" "0" "" "" "" "AN_005836" "00373281" "" "" "" "1" "" "03863" "{PMID:Barnes 2012:22718341}" "This patient is Proband 9." "" "" "Palestine" "" "0" "" "" "" "" "00373282" "" "" "" "1" "" "03864" "{PMID:Puig-Hervás 2012:22689593}" "" "" "" "Egypt" "" "0" "" "" "" "Family 1" "00373283" "" "" "" "1" "" "03864" "{PMID:Puig-Hervás 2012:22689593}" "" "" "" "Egypt" "" "0" "" "" "" "Family 2" "00373284" "" "" "" "1" "" "03704" "{PMID:Schwarze 2013:22949511}" "" "" "" "" "" "0" "" "" "" "Family L" "00373285" "" "" "" "4" "" "01819" "{PMID:Essawi 2018:29150909}" "This homozygous mutation was identified in 4 affected members of the same family" "" "yes" "Palestine" "" "0" "" "" "" "AN_005835" "00373286" "" "" "" "1" "" "00085" "Barnes 2012, ASHG2012:120120601" "The form of OI in the proband is described as severe.; The parents are cousins through both their maternal and paternal lines." "" "" "Lebanon" "" "0" "" "" "" "Patient 2" "00373287" "" "" "" "1" "" "00085" "{PMID:Venturi 2011:22061863}" "The patient is described as initially having type I OI but that the phenotype became progressively more severe.; The mutation causes both skipping of exon 8 and activation of a cryptic donor splice site, each resulting in a frameshift and premature translation termination." "" "" "Italy" "" "0" "" "" "" "O_137" "00373288" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P30" "00373289" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P1" "00373290" "" "" "" "1" "" "00085" "{PMID:Umair 2016:26538303}" "" "" "" "Pakistan" "" "0" "" "" "" "Family A" "00373291" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.3" "00373292" "" "" "" "1" "" "00085" "{PMID:Barbirato 2016:27706701}" "" "" "" "Brazil" "" "0" "" "" "" "P.4" "00373293" "" "" "" "1" "" "00085" "{PMID:Mrosk 2018:29499418}" "" "" "" "India" "" "0" "" "" "" "P31" "00408104" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "210" "00418645" "" "" "" "1" "" "04391" "" "" "F" "" "Italy" "" "" "" "" "" "" "00434912" "" "" "" "3" "" "04465" "{PMID:Tan 2023:36655627}" "" "M" "yes" "China" ">10y" "0" "" "" "" "Pat1" "00434913" "" "" "00434912" "1" "" "04465" "{PMID:Tan 2023:36655627}" "" "F" "yes" "China" ">04y" "0" "" "" "" "Pat2" "00434914" "" "" "00434912" "1" "" "04465" "{PMID:Tan 2023:36655627}" "" "F" "yes" "China" ">04y" "0" "" "" "" "Pat3" "00434931" "" "" "" "1" "" "04465" "{PMID:Tan 2023:36655627}" "" "F" "?" "China" ">26y" "0" "" "" "" "Pat4" "00434932" "" "" "" "1" "" "04465" "{PMID:Tan 2023:36655627}" "" "F" "?" "China" ">16y" "0" "" "" "" "Pat5" "00434933" "" "" "" "1" "" "04465" "{PMID:Tan 2023:36655627}" "" "F" "?" "China" ">32y" "0" "" "" "" "Pat6" "00466787" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat74" "00466788" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat75" "00466789" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat76" "00466790" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat77" "00466791" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat78" "00466792" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat79" "00466793" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat80" "00466794" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat81" "00466795" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat82" "00466796" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat83" "00466797" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat84" "00466798" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat85" "00466799" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat86" "00466800" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat87" "00466801" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat88" "00466802" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat89" "00466803" "" "" "" "1" "" "00006" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Turkey" "" "0" "" "" "" "Pat90" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 167 "{{individualid}}" "{{diseaseid}}" "00291707" "00198" "00291708" "00198" "00291709" "00198" "00300317" "05296" "00300318" "05296" "00300326" "05296" "00300345" "05296" "00300376" "05296" "00300377" "05296" "00300433" "05296" "00304576" "00198" "00327451" "05296" "00327452" "05296" "00327453" "05296" "00331449" "05517" "00331450" "05517" "00331451" "05517" "00331452" "05517" "00331453" "05517" "00331454" "05517" "00331455" "05517" "00373170" "05734" "00373171" "05296" "00373172" "05296" "00373173" "05734" "00373174" "05296" "00373175" "05734" "00373176" "05734" "00373177" "05734" "00373178" "05296" "00373179" "05734" "00373180" "05734" "00373181" "05296" "00373182" "05296" "00373183" "05734" "00373184" "05734" "00373185" "05296" "00373186" "05296" "00373187" "05296" "00373188" "05296" "00373189" "05734" "00373190" "05296" "00373192" "05296" "00373193" "05734" "00373194" "05296" "00373195" "05296" "00373196" "00198" "00373197" "05734" "00373198" "05296" "00373199" "05734" "00373200" "05296" "00373201" "05296" "00373202" "05296" "00373203" "05296" "00373204" "05296" "00373205" "05296" "00373207" "05296" "00373208" "05734" "00373209" "05734" "00373210" "05734" "00373211" "05734" "00373212" "05734" "00373213" "05734" "00373214" "05296" "00373215" "05734" "00373216" "05734" "00373217" "05296" "00373218" "05734" "00373219" "05296" "00373220" "05296" "00373221" "05296" "00373222" "05734" "00373224" "05296" "00373225" "05296" "00373226" "05296" "00373227" "05296" "00373228" "05296" "00373229" "05296" "00373230" "05296" "00373231" "05296" "00373232" "05296" "00373233" "05296" "00373234" "05296" "00373235" "00198" "00373236" "05296" "00373237" "05296" "00373238" "05296" "00373239" "05296" "00373240" "05296" "00373241" "05296" "00373242" "05296" "00373243" "05296" "00373244" "05296" "00373245" "05296" "00373246" "05296" "00373247" "05296" "00373248" "05296" "00373249" "05296" "00373250" "05296" "00373251" "05296" "00373252" "05296" "00373253" "05296" "00373254" "05296" "00373255" "00198" "00373256" "05296" "00373257" "05296" "00373258" "05296" "00373259" "05296" "00373260" "00198" "00373261" "00198" "00373262" "00198" "00373263" "05296" "00373264" "05296" "00373265" "05734" "00373266" "05734" "00373267" "05734" "00373268" "05734" "00373269" "05734" "00373270" "05734" "00373271" "05734" "00373272" "05734" "00373273" "05734" "00373274" "05296" "00373275" "05296" "00373276" "05734" "00373277" "00198" "00373278" "05296" "00373279" "05296" "00373280" "05296" "00373281" "05296" "00373282" "05734" "00373283" "05734" "00373284" "05734" "00373285" "05296" "00373286" "05296" "00373287" "05296" "00373288" "05734" "00373289" "05734" "00373290" "05296" "00373291" "05296" "00373292" "05296" "00373293" "05734" "00408104" "04214" "00418645" "05296" "00434912" "05296" "00434913" "05296" "00434914" "05296" "00434931" "05296" "00434932" "05296" "00434933" "05296" "00466787" "05296" "00466788" "05296" "00466789" "05296" "00466790" "05296" "00466791" "05296" "00466792" "05296" "00466793" "05296" "00466794" "05296" "00466795" "05296" "00466796" "05296" "00466797" "05296" "00466798" "05296" "00466799" "05296" "00466800" "05296" "00466801" "05296" "00466802" "05296" "00466803" "05296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02999, 04214, 04478, 05296, 05517, 05734 ## Count = 128 "{{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}}" "0000227628" "05296" "00300317" "00006" "Familial, autosomal recessive" "" "onset fractures 4m; 4 fractures left femur; 1d-contracture both knees and elbows; pterygium both elbows and knees (antecubital and popliteal); short chest with pectus carinatum; kyphosis; white sclera; high arched palate, deep over bite; no hearing impairment; Keloid formation at both elbows from crawling, small umbilical hernia; bilateral clinodactyly 4th finger; delayed gross motor development, 6y-not able to walk; 5y10m-weight 16 kg (-1.9SD), length 97.0 cm (-3.0SD), OFC 52 cm (mean); Wormian bones skull; decreased bone density, bowing leg bones, patchy sclerotic areas increased bone girth in lower aspect left femoral shaft due to old healed fracture, fracture line traversing mid shaft left tibia associated with periosteal reaction and callus formation.; 5y10m-osteoporosis femur (Z-score: -4.16), normal spine (Z-score:-0.23)" "4m" "" "congenital contractures, recurrent fractures" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000227629" "05296" "00300318" "00006" "Familial, autosomal recessive" "" "onset fractures birth; 8 fractures forearm and femora; 1d-contracture both knees with dimples over the lateral side both knees, bilateral talipes; pterygium both knees; pectus carinatum; scoliosis; faint blue sclera (likee the mother); high arched palate; no hearing impairment; unilateral simian crease; bilateral bowing femora, bilateral clasped thumbs; delayed gross motor development, 18m-no unsupported sitting, 16m-crawling; 3m-weight 4.4 kg (-1.8SD), length 55.0 cm (-2.0SD), OFC 36.8 cm (-2.0SD); 11m-weight 7.5 kg (-3.0SD), length 67.0 cm (-3.5SD), OFC 41.9 cm (-3.0SD); Wormian bones skull; multiple old fractures different sites long bones and ribs, wedging vertebral aspect L3, bowing femora, tibiae and fibulae, fracture mid shaft femur with callus formation, good bone modelling; 9m-borderline osteoporosis femur (Z-score: -1.85), osteopenia spine (Z-score: -1.18)" "1d" "" "congenital contractures, recurrent fractures" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000227637" "05296" "00300326" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000227653" "05296" "00300345" "00006" "Familial, autosomal recessive" "06y" "see paper; ..." "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta" "" "0000227684" "05296" "00300376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type III" "" "0000227685" "05296" "00300377" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "osteogeneis imperfecta type IV" "" "0000227741" "05296" "00300433" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "" "osteogenesis imperfecta type IV" "" "0000245740" "05296" "00327451" "00006" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "OI-11" "osteogenesis imperfecta" "" "0000245741" "05296" "00327452" "00006" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "OI-11" "osteogenesis imperfecta" "" "0000245742" "05296" "00327453" "00006" "Unknown" "2y" "" "" "" "" "" "" "" "" "" "OI-11" "osteogenesis imperfecta" "" "0000249641" "05517" "00331449" "00000" "Familial, autosomal recessive" "" "Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249642" "05517" "00331450" "00000" "Familial, autosomal recessive" "" "Limb joint contracture, Osteopenia, Wormian bones, Fractures of the long bones" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249643" "05517" "00331451" "00000" "Familial, autosomal recessive" "" "Multiple prenatal fractures, Osteopenia, Scoliosis, Wormian bones" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249644" "05517" "00331452" "00000" "Familial, autosomal recessive" "" "Kyphosis, Spinal cord compression, Recurrent fractures, Brachycephaly, Kyphoscoliosis, ArYes" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249645" "05517" "00331453" "00000" "Familial, autosomal recessive" "" "Osteopenia , Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249646" "05517" "00331454" "00000" "Familial, autosomal recessive" "" "Osteopenia , Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000249647" "05517" "00331455" "00000" "Familial, autosomal recessive" "" "Recurrent fractures" "" "" "" "" "" "" "" "" "Osteogenesis imperfecta and decreased bone density group" "skeletal dysplasia" "" "0000268446" "05734" "00373170" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268447" "05296" "00373171" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268448" "05296" "00373172" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268449" "05734" "00373173" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268450" "05296" "00373174" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268451" "05734" "00373175" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268452" "05734" "00373176" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268453" "05734" "00373177" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268454" "05296" "00373178" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268455" "05734" "00373179" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268456" "05734" "00373180" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268457" "05296" "00373181" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268458" "05296" "00373182" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268459" "05734" "00373183" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268460" "05734" "00373184" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268461" "05296" "00373185" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268462" "05296" "00373186" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268463" "05296" "00373187" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268464" "05296" "00373188" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268465" "05734" "00373189" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268466" "05296" "00373190" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268468" "05296" "00373192" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268469" "05734" "00373193" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268470" "05296" "00373194" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268471" "05296" "00373195" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268472" "00198" "00373196" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268473" "05734" "00373197" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268474" "05296" "00373198" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268475" "05734" "00373199" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000268476" "05296" "00373200" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268477" "05296" "00373201" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268478" "05296" "00373202" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268479" "05296" "00373203" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268480" "05296" "00373204" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268481" "05296" "00373205" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268483" "05296" "00373207" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268484" "05734" "00373208" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268485" "05734" "00373209" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268486" "05734" "00373210" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268487" "05734" "00373211" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268488" "05734" "00373212" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268489" "05734" "00373213" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268490" "05296" "00373214" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268491" "05734" "00373215" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268492" "05734" "00373216" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268493" "05296" "00373217" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268494" "05734" "00373218" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268495" "05296" "00373219" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268496" "05296" "00373220" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268497" "05296" "00373221" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268498" "05734" "00373222" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000268535" "05296" "00373259" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268536" "00198" "00373260" "03863" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kuskokwim disease" "" "0000268537" "00198" "00373261" "03863" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kuskokwim disease" "" "0000268538" "00198" "00373262" "03863" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kuskokwim disease" "" "0000268539" "05296" "00373263" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268540" "05296" "00373264" "03894" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268541" "05734" "00373265" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268542" "05734" "00373266" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268543" "05734" "00373267" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268544" "05734" "00373268" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268545" "05734" "00373269" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268546" "05734" "00373270" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268547" "05734" "00373271" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268548" "05734" "00373272" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268549" "05734" "00373273" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268550" "05296" "00373274" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268551" "05296" "00373275" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268552" "05734" "00373276" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268553" "00198" "00373277" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000268554" "05296" "00373278" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI IV" "" "0000268555" "05296" "00373279" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268556" "05296" "00373280" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268557" "05296" "00373281" "03863" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268558" "05734" "00373282" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268559" "05734" "00373283" "03864" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268560" "05734" "00373284" "03704" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS3" "Bruck syndrome" "" "0000268561" "05296" "00373285" "01819" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI XI" "" "0000268562" "05296" "00373286" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268563" "05296" "00373287" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268564" "05734" "00373288" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000268565" "05734" "00373289" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000268566" "05296" "00373290" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI" "" "0000268567" "05296" "00373291" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI I" "" "0000268568" "05296" "00373292" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OI III" "" "0000268569" "05734" "00373293" "00085" "Unknown" "" "" "" "" "" "" "" "" "" "" "BRKS1" "Bruck syndrome" "" "0000300232" "04214" "00408104" "00000" "Familial, autosomal recessive" "1y" "1 year old boy was bone with an uncomplicated perinatal course. At birth noticed to have multiple contractures of feet, knees, elbows, and hands. He also had developmental delay, hypotonia, macrocephaly, metopic craniosynostosis, prominent bifrontal extra-axial CSF spaces in neuroimaging, ventricular septal defect, decreased hearing on right ear, and distinctive facial features (depressed nasal bridge and prominent frontal head). His parents were cousins and he had 3 healthy siblings." "" "" "" "" "" "" "" "" "Bruck syndrome 1" "" "" "0000309978" "05296" "00418645" "04391" "Unknown" "41y" "Osteoporosis" "" "" "" "" "" "" "" "" "" "Osteogenesis Imperfecta" "" "0000325158" "05296" "00434912" "04465" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325159" "05296" "00434913" "04465" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325160" "05296" "00434914" "04465" "Familial, autosomal recessive" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325178" "05296" "00434931" "04465" "Unknown" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325179" "05296" "00434932" "04465" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "0000325180" "05296" "00434933" "04465" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000352150" "05296" "00466787" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352151" "05296" "00466788" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352152" "05296" "00466789" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352153" "05296" "00466790" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352154" "05296" "00466791" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352155" "05296" "00466792" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352156" "05296" "00466793" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352157" "05296" "00466794" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352158" "05296" "00466795" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352159" "05296" "00466796" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352160" "05296" "00466797" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352161" "05296" "00466798" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352162" "05296" "00466799" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352163" "05296" "00466800" "00006" "Familial, autosomal recessive" "" "OI4 common variable osteogenesis imperfecta, normal sclerae" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352164" "05296" "00466801" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352165" "05296" "00466802" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" "0000352166" "05296" "00466803" "00006" "Familial, autosomal recessive" "" "OI3 progressively deforming osteogenesis imperfecta" "" "" "" "" "" "" "" "" "OI11" "osteogenesis imperfecta" "" ## Screenings ## Do not remove or alter this header ## ## Count = 167 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292875" "00291707" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292876" "00291708" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292877" "00291709" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301438" "00300317" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301439" "00300318" "1" "00006" "00006" "2020-05-01 10:04:19" "" "" "SEQ" "DNA" "" "" "0000301447" "00300326" "1" "00006" "00006" "2020-05-01 10:47:58" "" "" "SEQ" "DNA" "" "" "0000301466" "00300345" "1" "00006" "00006" "2020-05-01 13:19:33" "00006" "2020-05-01 13:24:27" "SEQ" "DNA" "" "" "0000301497" "00300376" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301498" "00300377" "1" "00006" "00006" "2020-05-01 16:05:35" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000301554" "00300433" "1" "00006" "00006" "2020-05-01 16:46:56" "" "" "SEQ-NG" "DNA" "" "targeted 14-gene panel OI" "0000305705" "00304576" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328663" "00327451" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328664" "00327452" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000328665" "00327453" "1" "00006" "00006" "2021-01-21 13:10:01" "" "" "SEQ;SEQ-NG" "DNA" "" "57-gene panel" "0000332668" "00331449" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332669" "00331450" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332670" "00331451" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332671" "00331452" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332672" "00331453" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332673" "00331454" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332674" "00331455" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374404" "00373170" "1" "03704" "00085" "2013-03-19 13:46:53" "" "" "PCR;SEQ" "DNA" "" "" "0000374405" "00373171" "1" "03864" "03864" "2012-12-31 12:58:34" "00085" "2013-04-26 11:55:40" "SEQ" "DNA" "" "" "0000374406" "00373172" "1" "00085" "00085" "2019-09-04 14:26:08" "" "" "SEQ" "DNA" "" "" "0000374407" "00373173" "1" "00085" "00085" "2011-03-17 10:43:46" "00085" "2013-03-20 09:17:30" "PCR;SEQ" "DNA" "" "" "0000374408" "00373174" "1" "00085" "00085" "2019-09-04 14:30:02" "" "" "SEQ" "DNA" "" "" "0000374409" "00373175" "1" "00085" "00085" "2015-05-05 09:09:02" "" "" "PCR;SEQ" "DNA" "" "" "0000374410" "00373176" "1" "03704" "00085" "2013-03-19 13:50:52" "" "" "PCR;SEQ" "DNA" "" "" "0000374411" "00373177" "1" "00085" "00085" "2017-03-17 10:13:05" "00085" "2017-03-17 10:14:16" "PCR;SEQ" "DNA" "" "" "0000374412" "00373178" "1" "03704" "00085" "2009-11-11 16:07:58" "00085" "2011-02-18 14:07:58" "PCR;SEQ" "DNA" "" "" "0000374413" "00373179" "1" "03704" "00085" "2013-03-19 13:56:15" "" "" "PCR;SEQ" "DNA" "" "" "0000374414" "00373180" "1" "03704" "00085" "2013-03-19 16:09:22" "" "" "PCR;SEQ" "DNA" "" "" "0000374415" "00373181" "1" "00085" "00085" "2017-02-08 13:53:25" "00085" "2019-09-04 13:38:42" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374416" "00373182" "1" "00085" "00085" "2019-08-28 09:40:41" "" "" "SEQ" "DNA" "" "" "0000374417" "00373183" "1" "00085" "00085" "2011-03-17 11:11:11" "00085" "2013-03-20 09:19:49" "PCR;SEQ" "DNA" "" "" "0000374418" "00373184" "1" "03704" "00085" "2013-03-19 16:24:55" "" "" "PCR;SEQ" "DNA" "" "" "0000374419" "00373185" "1" "00085" "00085" "2015-11-13 13:01:32" "00085" "2017-02-06 15:55:46" "PCR;SEQ" "DNA" "" "" "0000374420" "00373186" "1" "03894" "03894" "2018-09-26 05:31:37" "" "" "PCR;SEQ" "DNA" "" "" "0000374421" "00373187" "1" "01819" "01819" "2016-11-28 18:21:01" "00085" "2020-05-20 08:06:29" "PCR;RT-PCR;SEQ;Western" "DNA;RNA;protein" "" "" "0000374422" "00373188" "1" "01819" "01819" "2016-11-28 18:23:50" "00085" "2020-05-20 08:07:22" "PCR;SEQ" "DNA" "" "" "0000374423" "00373189" "1" "03704" "00085" "2013-03-19 16:45:34" "" "" "PCR;SEQ" "DNA" "" "" "0000374424" "00373190" "1" "03894" "03894" "2018-09-26 05:49:37" "" "" "PCR;SEQ" "DNA" "" "" "0000374426" "00373192" "1" "00085" "00085" "2019-09-02 13:34:24" "" "" "SEQ" "DNA" "" "" "0000374427" "00373193" "1" "00085" "00085" "2011-11-17 12:06:29" "00085" "2011-11-17 12:06:49" "PCR;SEQ" "DNA" "" "" "0000374428" "00373194" "1" "00085" "00085" "2017-11-22 11:19:36" "00085" "2017-11-22 11:23:43" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374429" "00373195" "1" "03864" "03864" "2012-12-31 13:03:17" "00085" "2013-04-26 11:52:08" "SEQ" "DNA" "" "" "0000374430" "00373196" "1" "00085" "00085" "2009-11-30 12:10:14" "" "" "?" "?" "" "" "0000374431" "00373197" "1" "00085" "00085" "2011-05-16 14:22:19" "00085" "2013-12-06 11:02:46" "PCR;SEQ" "DNA" "" "" "0000374432" "00373198" "1" "03704" "00085" "2013-03-19 16:49:46" "" "" "PCR;SEQ" "DNA" "" "" "0000374433" "00373199" "1" "00085" "00085" "2014-09-23 14:19:12" "" "" "PCR;SEQ" "DNA" "" "" "0000374434" "00373200" "1" "03894" "03894" "2018-09-26 05:00:28" "" "" "PCR;SEQ" "DNA" "" "" "0000374435" "00373201" "1" "00085" "00085" "2019-08-19 11:34:55" "00085" "2019-08-23 16:07:50" "SEQ" "DNA" "" "" "0000374436" "00373202" "1" "00085" "00085" "2019-08-27 16:02:56" "00085" "2019-08-28 11:57:19" "SEQ" "DNA" "" "" "0000374437" "00373203" "1" "00085" "00085" "2019-08-27 16:06:38" "00085" "2019-08-28 11:57:10" "SEQ" "DNA" "" "" "0000374438" "00373204" "1" "00085" "00085" "2019-08-27 16:09:05" "00085" "2019-08-28 11:56:58" "SEQ" "DNA" "" "" "0000374439" "00373205" "1" "00085" "00085" "2019-08-27 16:12:31" "00085" "2019-08-28 11:56:48" "SEQ" "DNA" "" "" "0000374441" "00373207" "1" "03704" "00085" "2009-11-12 09:43:12" "00085" "2011-02-18 14:10:45" "PCR;SEQ" "DNA" "" "" "0000374442" "00373208" "1" "00085" "00085" "2011-03-17 10:37:30" "00085" "2013-03-20 09:21:11" "PCR;SEQ" "DNA" "" "" "0000374443" "00373209" "1" "00085" "00085" "2011-03-17 10:52:37" "00085" "2013-03-20 09:23:27" "PCR;SEQ" "DNA" "" "" "0000374444" "00373210" "1" "00085" "00085" "2011-03-17 11:03:49" "00085" "2013-03-20 09:22:31" "PCR;SEQ" "DNA" "" "" "0000374445" "00373211" "1" "00085" "00085" "2011-05-16 14:34:26" "" "" "PCR;SEQ" "DNA" "" "" "0000374446" "00373212" "1" "03864" "03864" "2012-12-31 13:14:44" "00085" "2016-04-18 09:15:43" "SEQ" "DNA" "" "" "0000374447" "00373213" "1" "03704" "00085" "2013-03-20 08:30:00" "" "" "PCR;SEQ" "DNA" "" "" "0000374448" "00373214" "1" "00085" "00085" "2013-03-20 08:33:19" "" "" "PCR;SEQ" "DNA" "" "" "0000374449" "00373215" "1" "03704" "00085" "2013-03-20 08:36:12" "" "" "PCR;SEQ" "DNA" "" "" "0000374450" "00373216" "1" "03704" "00085" "2013-03-20 08:41:09" "" "" "PCR;SEQ" "DNA" "" "" "0000374451" "00373217" "1" "00085" "00085" "2015-11-13 13:06:13" "00085" "2017-02-06 15:55:23" "PCR;SEQ" "DNA" "" "" "0000374452" "00373218" "1" "00085" "00085" "2016-06-14 10:22:37" "" "" "PCR;SEQ" "DNA" "" "" "0000374453" "00373219" "1" "00085" "00085" "2017-02-08 15:18:46" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374454" "00373220" "1" "00085" "00085" "2017-02-08 15:44:58" "00085" "2017-02-08 15:48:03" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000374455" "00373221" "1" "00085" "00085" "2017-03-17 08:44:58" "" "" "PCR;SEQ" "DNA" "" "" "0000374456" "00373222" "1" "00085" "00085" "2019-08-19 14:05:02" "" "" "SEQ" "DNA" "" "" "0000374458" "00373224" "1" "00085" "00085" "2019-08-27 15:59:07" "" "" "SEQ" "DNA" "" "" "0000374459" "00373225" "1" "00085" "00085" "2019-08-27 16:16:58" "00085" "2019-08-28 11:56:37" "SEQ" "DNA" "" "" "0000374460" "00373226" "1" "00085" "00085" "2019-08-27 16:20:08" "00085" "2019-08-28 11:56:25" "SEQ" "DNA" "" "" "0000374461" "00373227" "1" "00085" "00085" "2019-08-27 16:24:24" "00085" "2019-08-28 11:55:50" "SEQ" "DNA" "" "" "0000374462" "00373228" "1" "00085" "00085" "2019-08-27 16:32:20" "00085" "2019-08-28 11:55:36" "SEQ" "DNA" "" "" "0000374463" "00373229" "1" "00085" "00085" "2019-08-27 16:40:24" "00085" "2019-08-28 11:55:08" "SEQ" "DNA" "" "" "0000374464" "00373230" "1" "00085" "00085" "2019-08-28 09:21:37" "" "" "SEQ" "DNA" "" "" "0000374465" "00373231" "1" "00085" "00085" "2019-08-28 09:23:47" "" "" "SEQ" "DNA" "" "" "0000374466" "00373232" "1" "00085" "00085" "2019-08-28 09:27:42" "" "" "SEQ" "DNA" "" "" "0000374467" "00373233" "1" "00085" "00085" "2019-08-28 09:30:54" "" "" "SEQ" "DNA" "" "" "0000374468" "00373234" "1" "00085" "00085" "2019-08-28 09:32:36" "" "" "SEQ" "DNA" "" "" "0000374469" "00373235" "1" "00085" "00085" "2019-08-28 09:38:17" "" "" "SEQ" "DNA" "" "" "0000374470" "00373236" "1" "00085" "00085" "2019-08-28 09:46:03" "" "" "SEQ" "DNA" "" "" "0000374471" "00373237" "1" "00085" "00085" "2019-08-28 09:49:33" "" "" "SEQ" "DNA" "" "" "0000374472" "00373238" "1" "00085" "00085" "2019-08-28 09:51:48" "" "" "SEQ" "DNA" "" "" "0000374473" "00373239" "1" "00085" "00085" "2019-08-28 10:03:14" "" "" "SEQ" "DNA" "" "" "0000374474" "00373240" "1" "00085" "00085" "2019-08-28 10:05:20" "" "" "SEQ" "DNA" "" "" "0000374475" "00373241" "1" "00085" "00085" "2019-08-28 10:07:37" "" "" "SEQ" "DNA" "" "" "0000374476" "00373242" "1" "00085" "00085" "2019-08-28 10:10:00" "" "" "SEQ" "DNA" "" "" "0000374477" "00373243" "1" "00085" "00085" "2019-08-28 10:12:13" "" "" "SEQ" "DNA" "" "" "0000374478" "00373244" "1" "00085" "00085" "2019-08-28 10:13:55" "" "" "SEQ" "DNA" "" "" "0000374479" "00373245" "1" "00085" "00085" "2019-08-28 10:15:46" "" "" "SEQ" "DNA" "" "" "0000374480" "00373246" "1" "00085" "00085" "2019-08-28 10:20:55" "" "" "SEQ" "DNA" "" "" "0000374481" "00373247" "1" "00085" "00085" "2019-08-28 10:25:24" "" "" "SEQ" "DNA" "" "" "0000374482" "00373248" "1" "00085" "00085" "2019-08-28 10:28:00" "" "" "SEQ" "DNA" "" "" "0000374483" "00373249" "1" "00085" "00085" "2019-08-28 10:30:24" "" "" "SEQ" "DNA" "" "" "0000374484" "00373250" "1" "00085" "00085" "2019-08-28 10:52:12" "" "" "SEQ" "DNA" "" "" "0000374485" "00373251" "1" "00085" "00085" "2019-08-28 10:54:20" "" "" "SEQ" "DNA" "" "" "0000374486" "00373252" "1" "00085" "00085" "2019-08-28 10:56:26" "" "" "SEQ" "DNA" "" "" "0000374487" "00373253" "1" "00085" "00085" "2019-08-28 11:05:45" "" "" "SEQ" "DNA" "" "" "0000374488" "00373254" "1" "00085" "00085" "2019-08-28 11:07:30" "" "" "SEQ" "DNA" "" "" "0000374489" "00373255" "1" "00085" "00085" "2019-08-28 11:15:58" "" "" "SEQ" "DNA" "" "" "0000374490" "00373256" "1" "00085" "00085" "2019-08-28 11:25:19" "" "" "SEQ" "DNA" "" "" "0000374491" "00373257" "1" "00085" "00085" "2019-08-28 11:30:18" "" "" "SEQ" "DNA" "" "" "0000374492" "00373258" "1" "00085" "00085" "2019-08-28 11:33:08" "" "" "SEQ" "DNA" "" "" "0000374493" "00373259" "1" "00085" "00085" "2019-09-02 13:37:57" "" "" "SEQ" "DNA" "" "" "0000374494" "00373260" "1" "03863" "03863" "2013-02-25 21:24:52" "00085" "2013-05-29 10:57:19" "SEQ" "DNA" "" "" "0000374495" "00373261" "1" "03863" "03863" "2013-03-12 17:48:43" "00085" "2013-05-29 10:30:47" "PCR;SEQ" "DNA" "" "" "0000374496" "00373262" "1" "03863" "03863" "2013-03-12 17:51:14" "00085" "2013-05-29 14:13:22" "PCR;SEQ" "DNA" "" "" "0000374497" "00373263" "1" "00085" "00085" "2017-02-08 15:16:10" "00085" "2019-09-04 13:00:00" "SEQ-NG;PCR;SEQ" "DNA" "" "custom gene panel" "0000374498" "00373264" "1" "03894" "03894" "2018-09-26 05:11:41" "03894" "2018-09-28 08:36:05" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000374499" "00373265" "1" "03704" "00085" "2013-03-20 08:44:24" "" "" "PCR;SEQ" "DNA" "" "" "0000374500" "00373266" "1" "03704" "00085" "2013-03-20 08:47:33" "" "" "PCR;SEQ" "DNA" "" "" "0000374501" "00373267" "1" "03704" "00085" "2013-03-20 08:50:13" "" "" "PCR;SEQ" "DNA" "" "" "0000374502" "00373268" "1" "03704" "00085" "2013-03-20 08:51:23" "" "" "PCR;SEQ" "DNA" "" "" "0000374503" "00373269" "1" "03704" "00085" "2013-03-20 08:53:08" "" "" "PCR;SEQ" "DNA" "" "" "0000374504" "00373270" "1" "03704" "00085" "2013-03-20 08:54:47" "" "" "PCR;SEQ" "DNA" "" "" "0000374505" "00373271" "1" "03704" "00085" "2013-03-20 09:02:44" "" "" "PCR;SEQ" "DNA" "" "" "0000374506" "00373272" "1" "03704" "00085" "2013-03-20 09:05:00" "" "" "PCR;SEQ" "DNA" "" "" "0000374507" "00373273" "1" "03704" "00085" "2013-03-20 09:06:47" "" "" "PCR;SEQ" "DNA" "" "" "0000374508" "00373274" "1" "00085" "00085" "2013-03-12 11:57:55" "00085" "2018-05-08 09:11:53" "SEQ" "?" "" "" "0000374509" "00373275" "1" "00085" "00085" "2016-07-19 15:11:19" "00085" "2016-07-19 15:11:48" "PCR;SEQ" "DNA" "" "" "0000374510" "00373276" "1" "00085" "00085" "2010-08-16 09:16:19" "00085" "2012-10-12 13:38:56" "PCR;SEQ" "DNA" "" "" "0000374511" "00373277" "1" "00085" "00085" "2009-11-30 12:11:39" "" "" "?" "?" "" "" "0000374512" "00373278" "1" "00085" "00085" "2011-11-24 13:25:53" "00085" "2011-11-24 13:26:28" "SEQ" "DNA" "" "" "0000374513" "00373279" "1" "00085" "00085" "2019-03-19 14:39:46" "00085" "2019-03-19 15:25:11" "PCR;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000374514" "00373280" "1" "01819" "01819" "2016-11-28 18:39:49" "" "" "PCR;SEQ" "DNA" "" "" "0000374515" "00373281" "1" "03863" "03863" "2012-02-02 15:18:51" "00085" "2012-10-29 13:28:41" "PCR;SEQ" "DNA" "" "" "0000374516" "00373282" "1" "03864" "03864" "2012-04-19 09:51:27" "00085" "2012-10-03 12:01:28" "SEQ" "DNA" "" "" "0000374517" "00373283" "1" "03864" "03864" "2012-04-19 09:53:23" "00085" "2012-10-03 12:02:27" "SEQ" "DNA" "" "" "0000374518" "00373284" "1" "03704" "00085" "2013-03-20 09:14:38" "" "" "PCR;SEQ" "DNA" "" "" "0000374519" "00373285" "1" "01819" "01819" "2016-11-28 18:31:46" "01819" "2016-11-29 17:51:28" "PCR;SEQ" "DNA" "" "" "0000374520" "00373286" "1" "00085" "00085" "2013-03-12 11:40:21" "00085" "2013-03-12 11:41:14" "SEQ" "?" "" "" "0000374521" "00373287" "1" "00085" "00085" "2011-11-09 11:54:13" "00085" "2011-11-09 11:55:42" "PCR;SEQ" "DNA" "" "" "0000374522" "00373288" "1" "00085" "00085" "2019-08-20 10:42:51" "" "" "SEQ" "DNA" "" "" "0000374523" "00373289" "1" "00085" "00085" "2019-08-19 13:53:07" "" "" "SEQ" "DNA" "" "" "0000374524" "00373290" "1" "00085" "00085" "2015-11-13 12:59:04" "00085" "2017-02-06 15:55:01" "PCR;SEQ" "DNA" "" "" "0000374525" "00373291" "1" "00085" "00085" "2019-09-02 13:42:30" "" "" "SEQ" "DNA" "" "" "0000374526" "00373292" "1" "00085" "00085" "2019-09-02 13:50:34" "" "" "SEQ" "DNA" "" "" "0000374527" "00373293" "1" "00085" "00085" "2019-08-20 10:52:12" "" "" "SEQ" "DNA" "" "" "0000409359" "00408104" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000419943" "00418645" "1" "04391" "04391" "2022-10-03 15:55:20" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000436385" "00434912" "1" "04465" "04465" "2023-04-13 16:45:42" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000436386" "00434913" "1" "04465" "04465" "2023-04-13 16:48:39" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000436387" "00434914" "1" "04465" "04465" "2023-04-13 16:51:06" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000436404" "00434931" "1" "04465" "04465" "2023-04-14 16:08:40" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000436405" "00434932" "1" "04465" "04465" "2023-04-14 16:13:15" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000436406" "00434933" "1" "04465" "04465" "2023-04-14 16:17:03" "" "" "SEQ-NG" "DNA" "blood" "targeted amplicon sequencing" "0000468451" "00466787" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468452" "00466788" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468453" "00466789" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468454" "00466790" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468455" "00466791" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468456" "00466792" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468457" "00466793" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468458" "00466794" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468459" "00466795" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468460" "00466796" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468461" "00466797" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468462" "00466798" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468463" "00466799" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468464" "00466800" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468465" "00466801" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468466" "00466802" "1" "00006" "00006" "2025-09-24 08:32:06" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000468467" "00466803" "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 = 153 "{{screeningid}}" "{{geneid}}" "0000301438" "FKBP10" "0000301439" "FKBP10" "0000301447" "FKBP10" "0000301466" "FKBP10" "0000301497" "FKBP10" "0000301498" "FKBP10" "0000301554" "FKBP10" "0000328663" "FKBP10" "0000328664" "FKBP10" "0000328665" "FKBP10" "0000332668" "FKBP10" "0000332669" "FKBP10" "0000332670" "FKBP10" "0000332671" "FKBP10" "0000332672" "FKBP10" "0000332673" "FKBP10" "0000332674" "FKBP10" "0000374404" "FKBP10" "0000374405" "FKBP10" "0000374406" "FKBP10" "0000374407" "FKBP10" "0000374408" "FKBP10" "0000374409" "FKBP10" "0000374410" "FKBP10" "0000374411" "FKBP10" "0000374412" "FKBP10" "0000374413" "FKBP10" "0000374414" "FKBP10" "0000374415" "FKBP10" "0000374416" "FKBP10" "0000374417" "FKBP10" "0000374418" "FKBP10" "0000374419" "FKBP10" "0000374420" "FKBP10" "0000374421" "FKBP10" "0000374422" "FKBP10" "0000374423" "FKBP10" "0000374424" "FKBP10" "0000374426" "FKBP10" "0000374427" "FKBP10" "0000374428" "FKBP10" "0000374429" "FKBP10" "0000374430" "FKBP10" "0000374431" "FKBP10" "0000374432" "FKBP10" "0000374433" "FKBP10" "0000374434" "FKBP10" "0000374435" "FKBP10" "0000374436" "FKBP10" "0000374437" "FKBP10" "0000374438" "FKBP10" "0000374439" "FKBP10" "0000374441" "FKBP10" "0000374442" "FKBP10" "0000374443" "FKBP10" "0000374444" "FKBP10" "0000374445" "FKBP10" "0000374446" "FKBP10" "0000374447" "FKBP10" "0000374448" "FKBP10" "0000374449" "FKBP10" "0000374450" "FKBP10" "0000374451" "FKBP10" "0000374452" "FKBP10" "0000374453" "FKBP10" "0000374454" "FKBP10" "0000374455" "FKBP10" "0000374456" "FKBP10" "0000374458" "FKBP10" "0000374459" "FKBP10" "0000374460" "FKBP10" "0000374461" "FKBP10" "0000374462" "FKBP10" "0000374463" "FKBP10" "0000374464" "FKBP10" "0000374465" "FKBP10" "0000374466" "FKBP10" "0000374467" "FKBP10" "0000374468" "FKBP10" "0000374469" "FKBP10" "0000374470" "FKBP10" "0000374471" "FKBP10" "0000374472" "FKBP10" "0000374473" "FKBP10" "0000374474" "FKBP10" "0000374475" "FKBP10" "0000374476" "FKBP10" "0000374477" "FKBP10" "0000374478" "FKBP10" "0000374479" "FKBP10" "0000374480" "FKBP10" "0000374481" "FKBP10" "0000374482" "FKBP10" "0000374483" "FKBP10" "0000374484" "FKBP10" "0000374485" "FKBP10" "0000374486" "FKBP10" "0000374487" "FKBP10" "0000374488" "FKBP10" "0000374489" "FKBP10" "0000374490" "FKBP10" "0000374491" "FKBP10" "0000374492" "FKBP10" "0000374493" "FKBP10" "0000374494" "FKBP10" "0000374495" "FKBP10" "0000374496" "FKBP10" "0000374497" "FKBP10" "0000374498" "FKBP10" "0000374499" "FKBP10" "0000374500" "FKBP10" "0000374501" "FKBP10" "0000374502" "FKBP10" "0000374503" "FKBP10" "0000374504" "FKBP10" "0000374505" "FKBP10" "0000374506" "FKBP10" "0000374507" "FKBP10" "0000374508" "FKBP10" "0000374509" "FKBP10" "0000374510" "FKBP10" "0000374511" "FKBP10" "0000374512" "FKBP10" "0000374513" "FKBP10" "0000374514" "FKBP10" "0000374515" "FKBP10" "0000374516" "FKBP10" "0000374517" "FKBP10" "0000374518" "FKBP10" "0000374519" "FKBP10" "0000374520" "FKBP10" "0000374521" "FKBP10" "0000374522" "FKBP10" "0000374523" "FKBP10" "0000374524" "FKBP10" "0000374525" "FKBP10" "0000374526" "FKBP10" "0000374527" "FKBP10" "0000409359" "FKBP10" "0000419943" "BMP1" "0000419943" "COL1A1" "0000419943" "COL1A2" "0000419943" "CRTAP" "0000419943" "FKBP10" "0000419943" "IFITM5" "0000419943" "LRP5" "0000419943" "P3H1" "0000419943" "PLOD2" "0000419943" "PLS3" "0000419943" "PPIB" "0000419943" "SERPINF1" "0000419943" "SERPINH1" "0000419943" "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 = 245 "{{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}}" "0000250128" "0" "10" "17" "39975466" "39975466" "subst" "0.00404127" "02329" "FKBP10_000004" "g.39975466A>G" "" "" "" "FKBP10(NM_021939.4):c.732A>G (p.T244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41819214A>G" "" "benign" "" "0000250150" "0" "10" "17" "39974642" "39974642" "subst" "0.0478513" "02329" "FKBP10_000003" "g.39974642A>G" "" "" "" "FKBP10(NM_021939.3):c.590A>G (p.(Lys197Arg)), FKBP10(NM_021939.4):c.590A>G (p.K197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41818390A>G" "" "benign" "" "0000250359" "0" "30" "17" "39977305" "39977305" "subst" "0.00133929" "02329" "FKBP10_000072" "g.39977305A>G" "" "" "" "FKBP10(NM_021939.3):c.1363A>G (p.I455V, p.(Ile455Val)), FKBP10(NM_021939.4):c.1363A>G (p.I455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41821053A>G" "" "likely benign" "" "0000250481" "0" "30" "17" "39975667" "39975667" "subst" "0" "02329" "FKBP10_000067" "g.39975667A>G" "" "" "" "FKBP10(NM_021939.4):c.917+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41819415A>G" "" "likely benign" "" "0000283219" "0" "30" "17" "39976729" "39976729" "subst" "6.12495E-5" "02329" "FKBP10_000069" "g.39976729G>T" "" "" "" "FKBP10(NM_021939.4):c.1256+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41820477G>T" "" "likely benign" "" "0000283221" "0" "30" "17" "39977192" "39977192" "subst" "3.79991E-5" "02329" "FKBP10_000070" "g.39977192C>T" "" "" "" "FKBP10(NM_021939.4):c.1257-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41820940C>T" "" "likely benign" "" "0000283222" "0" "10" "17" "39977902" "39977902" "subst" "0.00348968" "02329" "FKBP10_000071" "g.39977902C>G" "" "" "" "FKBP10(NM_021939.3):c.1400-4C>G (p.?), FKBP10(NM_021939.4):c.1400-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41821650C>G" "" "benign" "" "0000283223" "0" "10" "17" "39969549" "39969549" "subst" "0.0749784" "02329" "FKBP10_000061" "g.39969549C>T" "" "" "" "FKBP10(NM_021939.4):c.245+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41813297C>T" "" "benign" "" "0000283224" "0" "30" "17" "39973305" "39973305" "subst" "0.00133298" "02329" "FKBP10_000062" "g.39973305C>G" "" "" "" "FKBP10(NM_021939.3):c.246-5C>G (p.?), FKBP10(NM_021939.4):c.246-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41817053C>G" "" "likely benign" "" "0000283225" "0" "90" "17" "39973407" "39973407" "subst" "1.62812E-5" "02329" "FKBP10_000033" "g.39973407C>T" "" "" "" "FKBP10(NM_021939.4):c.343C>T (p.R115*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41817155C>T" "" "pathogenic" "" "0000283226" "0" "30" "17" "39974369" "39974369" "subst" "0.000159865" "02329" "FKBP10_000064" "g.39974369C>G" "" "" "" "FKBP10(NM_021939.4):c.420C>G (p.L140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41818117C>G" "" "likely benign" "" "0000561439" "0" "50" "17" "39969458" "39969458" "subst" "0" "01804" "FKBP10_000073" "g.39969458G>A" "" "" "" "FKBP10(NM_021939.3):c.172G>A (p.(Glu58Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41813206G>A" "" "VUS" "" "0000561440" "0" "50" "17" "39969496" "39969496" "subst" "2.03183E-5" "02325" "FKBP10_000074" "g.39969496C>G" "" "" "" "FKBP10(NM_021939.4):c.210C>G (p.N70K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41813244C>G" "" "VUS" "" "0000561441" "0" "30" "17" "39974642" "39974642" "subst" "0.0478513" "01804" "FKBP10_000003" "g.39974642A>G" "" "" "" "FKBP10(NM_021939.3):c.590A>G (p.(Lys197Arg)), FKBP10(NM_021939.4):c.590A>G (p.K197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41818390A>G" "" "likely benign" "" "0000561442" "0" "30" "17" "39975584" "39975584" "subst" "0.000524194" "01804" "FKBP10_000075" "g.39975584G>A" "" "" "" "FKBP10(NM_021939.3):c.850G>A (p.(Gly284Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41819332G>A" "" "likely benign" "" "0000561443" "0" "10" "17" "39975704" "39975704" "subst" "0" "02329" "FKBP10_000076" "g.39975704G>T" "" "" "" "FKBP10(NM_021939.4):c.917+53G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41819452G>T" "" "benign" "" "0000561445" "0" "10" "17" "39976727" "39976727" "subst" "0.00926575" "02329" "FKBP10_000078" "g.39976727G>C" "" "" "" "FKBP10(NM_021939.4):c.1256+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820475G>C" "" "benign" "" "0000561446" "0" "10" "17" "39976730" "39976730" "dup" "0" "02329" "FKBP10_000079" "g.39976730dup" "" "" "" "FKBP10(NM_021939.4):c.1256+17dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820478dup" "" "benign" "" "0000561447" "0" "30" "17" "39977249" "39977249" "subst" "0.00252654" "01804" "FKBP10_000080" "g.39977249T>C" "" "" "" "FKBP10(NM_021939.3):c.1307T>C (p.I436T, p.(Ile436Thr)), FKBP10(NM_021939.4):c.1307T>C (p.I436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820997T>C" "" "likely benign" "" "0000561448" "0" "30" "17" "39977249" "39977249" "subst" "0.00252654" "02329" "FKBP10_000080" "g.39977249T>C" "" "" "" "FKBP10(NM_021939.3):c.1307T>C (p.I436T, p.(Ile436Thr)), FKBP10(NM_021939.4):c.1307T>C (p.I436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820997T>C" "" "likely benign" "" "0000561449" "0" "30" "17" "39977305" "39977305" "subst" "0.00133929" "01943" "FKBP10_000072" "g.39977305A>G" "" "" "" "FKBP10(NM_021939.3):c.1363A>G (p.I455V, p.(Ile455Val)), FKBP10(NM_021939.4):c.1363A>G (p.I455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41821053A>G" "" "likely benign" "" "0000616542" "0" "50" "17" "39969392" "39969392" "subst" "0" "01943" "FKBP10_000081" "g.39969392C>A" "" "" "" "FKBP10(NM_021939.3):c.106C>A (p.P36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41813140C>A" "" "VUS" "" "0000616543" "0" "30" "17" "39976547" "39976547" "subst" "8.12434E-6" "01943" "FKBP10_000082" "g.39976547C>T" "" "" "" "FKBP10(NM_021939.3):c.1090C>T (p.L364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820295C>T" "" "likely benign" "" "0000616544" "0" "50" "17" "39976713" "39976713" "subst" "0.00110887" "02325" "FKBP10_000083" "g.39976713C>T" "" "" "" "FKBP10(NM_021939.3):c.1256C>T (p.S419L, p.(Ser419Leu)), FKBP10(NM_021939.4):c.1256C>T (p.S419L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820461C>T" "" "VUS" "" "0000616545" "0" "30" "17" "39977220" "39977220" "subst" "0" "01943" "FKBP10_000084" "g.39977220G>A" "" "" "" "FKBP10(NM_021939.3):c.1278G>A (p.Q426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41820968G>A" "" "likely benign" "" "0000649564" "1" "50" "17" "39974642" "39974642" "subst" "0.0478513" "03575" "FKBP10_000003" "g.39974642A>G" "176/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 176 heterozygous; {DB:CLININrs34764749}" "Germline" "" "rs34764749" "0" "" "" "g.41818390A>G" "" "VUS" "" "0000649565" "1" "70" "17" "39975704" "39975704" "subst" "0" "03575" "FKBP10_000076" "g.39975704G>T" "48/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "48 heterozygous, no homozygous; {DB:CLININrs141387386}" "Germline" "" "rs141387386" "0" "" "" "g.41819452G>T" "" "likely pathogenic" "" "0000649566" "1" "50" "17" "39977249" "39977249" "subst" "0.00252654" "03575" "FKBP10_000080" "g.39977249T>C" "3/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs61749879}" "Germline" "" "rs61749879" "0" "" "" "g.41820997T>C" "" "VUS" "" "0000658110" "0" "30" "17" "39975015" "39975015" "subst" "0" "02329" "FKBP10_000085" "g.39975015C>A" "" "" "" "FKBP10(NM_021939.4):c.727+236C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41818763C>A" "" "likely benign" "" "0000664374" "3" "90" "17" "39977213" "39977214" "delins" "0" "00006" "FKBP10_000014" "g.39977213_39977214delinsA" "" "{PMID:Puig-Hervas 2012:22689593}" "" "1271_1272delCCinsA" "" "Germline" "" "" "0" "" "" "g.41820961_41820962delinsA" "" "pathogenic (recessive)" "" "0000664375" "3" "90" "17" "39977213" "39977214" "delins" "0" "00006" "FKBP10_000014" "g.39977213_39977214delinsA" "" "{PMID:Puig-Hervas 2012:22689593}" "" "1271_1272delCCinsA" "" "Germline" "yes" "" "0" "" "" "g.41820961_41820962delinsA" "" "pathogenic (recessive)" "" "0000664385" "1" "90" "17" "39975498" "39975506" "dup" "0" "00006" "FKBP10_000026" "g.39975498_39975506dup" "" "{PMID:Zhou 2014:25238597}" "" "764_772dupACGTCCTCC" "" "Germline" "" "" "0" "" "" "g.41819246_41819254dup" "" "pathogenic (recessive)" "" "0000664387" "2" "90" "17" "39977911" "39977911" "subst" "0" "00006" "FKBP10_000027" "g.39977911G>T" "" "{PMID:Zhou 2014:25238597}" "" "" "" "Germline" "" "" "0" "" "" "g.41821659G>T" "" "pathogenic (recessive)" "" "0000664416" "3" "90" "17" "39975565" "39975565" "dup" "0" "00006" "FKBP10_000002" "g.39975565dup" "" "{PMID:Santana 2019:31001443}" "" "831dupC" "" "Germline" "" "" "0" "" "" "g.41819313dup" "" "pathogenic (recessive)" "" "0000664447" "1" "90" "17" "39973407" "39973407" "subst" "1.62812E-5" "00006" "FKBP10_000033" "g.39973407C>T" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.41817155C>T" "" "pathogenic (recessive)" "" "0000664448" "1" "90" "17" "39975779" "39975779" "subst" "4.06279E-6" "00006" "FKBP10_000036" "g.39975779C>G" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.41819527C>G" "" "pathogenic (recessive)" "" "0000664456" "2" "90" "17" "39976543" "39976543" "del" "0" "00006" "FKBP10_000034" "g.39976543del" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "1085_1086delC" "" "Germline" "" "" "0" "" "" "g.41820291del" "" "pathogenic (recessive)" "" "0000664457" "2" "90" "17" "39975613" "39975613" "subst" "0" "00006" "FKBP10_000035" "g.39975613C>G" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "" "" "Germline" "" "" "0" "" "" "g.41819361C>G" "" "pathogenic (recessive)" "" "0000664512" "3" "90" "17" "39975565" "39975565" "dup" "0" "00006" "FKBP10_000002" "g.39975565dup" "1/101 cases OI" "{PMID:Liu 2017:28725987}" "" "831dupC" "" "Germline" "" "" "0" "" "" "g.41819313dup" "" "pathogenic (recessive)" "" "0000669393" "3" "50" "17" "39974642" "39974642" "subst" "0.0478513" "03575" "FKBP10_000003" "g.39974642A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs34764749}" "Germline" "" "rs34764749" "0" "" "" "g.41818390A>G" "" "VUS" "" "0000680853" "0" "70" "17" "39973374" "39973374" "subst" "3.25441E-5" "01804" "FKBP10_000037" "g.39973374C>T" "" "" "" "FKBP10(NM_021939.3):c.310C>T (p.(Arg104Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680854" "0" "30" "17" "39974630" "39974630" "subst" "0" "02329" "FKBP10_000086" "g.39974630G>T" "" "" "" "FKBP10(NM_021939.4):c.582-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692333" "0" "30" "17" "39973027" "39973027" "subst" "0" "02329" "FKBP10_000087" "g.39973027T>A" "" "" "" "FKBP10(NM_021939.4):c.246-283T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692334" "0" "30" "17" "39975806" "39975806" "subst" "8.1244E-5" "02329" "FKBP10_000088" "g.39975806T>C" "" "" "" "FKBP10(NM_021939.4):c.942T>C (p.N314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712622" "3" "77" "17" "39976714" "39976714" "subst" "1.22339E-5" "00006" "FKBP10_000090" "g.39976714G>A" "" "{PMID:Demir 2021:33470886}" "" "" "both unaffected parents heterozygous carriers" "Germline" "" "" "0" "" "" "g.41820462G>A" "" "likely pathogenic" "" "0000712623" "3" "99" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41819372_41819379dup" "" "pathogenic" "" "0000712624" "3" "99" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Demir 2021:33470886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41819372_41819379dup" "" "pathogenic" "" "0000726344" "0" "90" "17" "39974755" "39974755" "del" "0" "01943" "FKBP10_000091" "g.39974755del" "" "" "" "FKBP10(NM_021939.3):c.703delC (p.L235Wfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726345" "0" "50" "17" "39976713" "39976713" "subst" "0.00110887" "01943" "FKBP10_000083" "g.39976713C>T" "" "" "" "FKBP10(NM_021939.3):c.1256C>T (p.S419L, p.(Ser419Leu)), FKBP10(NM_021939.4):c.1256C>T (p.S419L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726346" "0" "50" "17" "39976713" "39976713" "subst" "0.00110887" "01804" "FKBP10_000083" "g.39976713C>T" "" "" "" "FKBP10(NM_021939.3):c.1256C>T (p.S419L, p.(Ser419Leu)), FKBP10(NM_021939.4):c.1256C>T (p.S419L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726347" "0" "30" "17" "39978052" "39978052" "subst" "0.00177112" "01804" "FKBP10_000053" "g.39978052G>A" "" "" "" "FKBP10(NM_021939.3):c.1546G>A (p.(Glu516Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729950" "3" "90" "17" "39975898" "39975898" "dup" "0" "00000" "FKBP10_000092" "g.39975898dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.1034dupC:p.(His346Alafs*27)" "" "Germline" "" "" "0" "" "" "g.41819646dup" "" "likely pathogenic (recessive)" "" "0000729951" "3" "90" "17" "39975880" "39975887" "dup" "0" "00000" "FKBP10_000006" "g.39975880_39975887dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.1016_1023dup:p.(Thr342Glyfs*26)" "" "Germline" "" "" "0" "" "" "g.41819628_41819635dup" "" "pathogenic (recessive)" "" "0000729952" "3" "90" "17" "39975565" "39975565" "dup" "0" "00000" "FKBP10_000002" "g.39975565dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.831dupC:p.(Gly278Argfs*95)" "" "Germline" "" "" "0" "" "" "g.41819313dup" "" "pathogenic (recessive)" "" "0000729953" "3" "90" "17" "39975565" "39975565" "dup" "0" "00000" "FKBP10_000002" "g.39975565dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.831dupC:p.(Gly278Argfs*95)" "" "Germline" "" "" "0" "" "" "g.41819313dup" "" "pathogenic (recessive)" "" "0000729954" "3" "90" "17" "39975880" "39975887" "dup" "0" "00000" "FKBP10_000006" "g.39975880_39975887dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.1016_1023dup:p.(Thr342Glyfs*26)" "" "Germline" "" "" "0" "" "" "g.41819628_41819635dup" "" "pathogenic (recessive)" "" "0000729955" "3" "90" "17" "39975880" "39975887" "dup" "0" "00000" "FKBP10_000006" "g.39975880_39975887dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.1016_1023dup:p.(Thr342Glyfs*26)" "" "Germline" "" "" "0" "" "" "g.41819628_41819635dup" "" "pathogenic (recessive)" "" "0000729956" "3" "90" "17" "39973401" "39973401" "subst" "8.13862E-6" "00000" "FKBP10_000022" "g.39973401G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_021939.3:c.337G>A:p.(Glu113Lys)" "" "Germline" "" "" "0" "" "" "g.41817149G>A" "" "pathogenic (recessive)" "" "0000785168" "3" "99" "17" "39969300" "39969300" "del" "0" "03704" "FKBP10_000020" "g.39969300del" "" "{PMID:Schwarze 2013:22949511}" "" "14delG" "" "Germline" "" "" "0" "" "" "g.41813048del" "" "pathogenic" "" "0000785169" "3" "99" "17" "39969307" "39969307" "dup" "0" "03864" "FKBP10_000015" "g.39969307dup" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "21dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785170" "3" "99" "17" "39969307" "39969307" "dup" "0" "00085" "FKBP10_000015" "g.39969307dup" "" "{PMID:Trancozo 2019:31429852}" "" "21dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785171" "3" "99" "17" "39969408" "39969442" "del" "0" "00085" "FKBP10_000007" "g.39969408_39969442del" "" "{PMID:Kelley 2011:20839288}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785172" "0" "99" "17" "39969465" "39969465" "subst" "0" "00085" "FKBP10_000054" "g.39969465A>C" "" "{PMID:Trancozo 2019:31429852}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785173" "3" "99" "17" "39969490" "39969490" "delins" "0" "00085" "FKBP10_000028" "g.39969490delinsAAA" "" "{PMID:Moravej 2015:25931047}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785174" "3" "99" "17" "39973352" "39973352" "dup" "0" "03704" "FKBP10_000021" "g.39973352dup" "" "{PMID:Schwarze 2013:22949511}" "" "288dupG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785175" "3" "99" "17" "39973374" "39973374" "subst" "3.25441E-5" "00085" "FKBP10_000037" "g.39973374C>T" "" "{PMID:Caparros-Martin 2016:28116328}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785176" "3" "99" "17" "39973385" "39973417" "del" "0" "03704" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Alanay 2010:20362275}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785177" "3" "99" "17" "39973401" "39973401" "subst" "8.13862E-6" "03704" "FKBP10_000022" "g.39973401G>A" "" "{PMID:Schwarze 2013:22949511}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785178" "3" "99" "17" "39973401" "39973401" "subst" "8.13862E-6" "03704" "FKBP10_000022" "g.39973401G>A" "" "{PMID:Schwarze 2013:22949511}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785179" "21" "99" "17" "39973407" "39973407" "subst" "1.62812E-5" "00085" "FKBP10_000033" "g.39973407C>T" "" "{PMID:Xu 2017:27762305}" "" "" "The protein-level variant description for the paternal allele is incorrectly described by the authors as p.A362fsX1.; The family in this study was presented again as Family 30 by {PMID28725987:Liu et al., 2017} with a phenotype of OI III." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785180" "0" "95" "17" "39973407" "39973407" "subst" "1.62812E-5" "00085" "FKBP10_000033" "g.39973407C>T" "" "{PMID:Vorster 2017:28492130}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785181" "0" "97" "17" "39973408" "39973408" "subst" "1.22122E-5" "00085" "FKBP10_000009" "g.39973408G>A" "" "{PMID:Kelley 2011:20839288}" "" "" "No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785182" "3" "99" "17" "39973408" "39973408" "subst" "1.22122E-5" "03704" "FKBP10_000009" "g.39973408G>A" "" "{PMID:Schwarze 2013:22949511}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785183" "3" "99" "17" "39973408" "39973408" "subst" "1.22122E-5" "00085" "FKBP10_000009" "g.39973408G>A" "" "{PMID:Umair 2016:26538303}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785184" "11" "99" "17" "39973408" "39973408" "subst" "1.22122E-5" "03894" "FKBP10_000009" "g.39973408G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785185" "3" "99" "17" "39973459" "39973459" "subst" "0" "01819" "FKBP10_000031" "g.39973459A>T" "" "{PMID:Essawi 2018:29150909}" "" "" "This variant was identified in 8 affected members of the same family. The variant causes a skip of exon 2.; This patient might be related to patient AN_005834 who is homozygous for the same variant and is also from the same city." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785186" "3" "99" "17" "39973459" "39973459" "subst" "0" "01819" "FKBP10_000031" "g.39973459A>T" "" "{PMID:Essawi 2018:29150909}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785187" "3" "99" "17" "39974356" "39974356" "subst" "2.08446E-5" "03704" "FKBP10_000023" "g.39974356C>T" "" "{PMID:Schwarze 2013:22949511}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785188" "11" "99" "17" "39974881" "39980318" "del" "0" "03894" "FKBP10_000045" "g.39974881_39980318del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785190" "21" "95" "17" "39974642" "39974642" "subst" "0.0478513" "00085" "FKBP10_000003" "g.39974642A>G" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "rs34764749" "0" "" "" "" "" "pathogenic" "" "0000785191" "3" "99" "17" "39974652" "39974656" "del" "0" "00085" "FKBP10_000012" "g.39974652_39974656del" "" "{PMID:Setijowati 2011:22085994}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785192" "3" "99" "17" "39974664" "39974664" "subst" "2.03072E-5" "00085" "FKBP10_000038" "g.39974664C>G" "" "{PMID:Velasco and Morales, 2017:29158687}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785193" "3" "99" "17" "39974741" "39974741" "subst" "0" "03864" "FKBP10_000016" "g.39974741T>C" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785194" "0" "51" "17" "39975466" "39975466" "subst" "0.00404127" "00085" "FKBP10_000004" "g.39975466A>G" "" "" "" "" "" "Germline" "" "rs8078775" "0" "" "" "" "" "VUS" "" "0000785195" "3" "99" "17" "39975477" "39975477" "dup" "0" "00085" "FKBP10_000010" "g.39975477dup" "" "{PMID:Shaheen 2011:21567934}" "" "743dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785196" "3" "99" "17" "39975477" "39975477" "dup" "0" "03704" "FKBP10_000010" "g.39975477dup" "" "{PMID:Schwarze 2013:22949511}" "" "743dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785197" "11" "99" "17" "39975498" "39975506" "dup" "0" "00085" "FKBP10_000026" "g.39975498_39975506dup" "" "{PMID:Zhou 2014:25238597}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785198" "11" "99" "17" "39975543" "39975577" "del" "0" "03894" "FKBP10_000041" "g.39975543_39975577del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "g.41819291_41819325del" "" "pathogenic" "" "0000785199" "21" "99" "17" "39975547" "39975548" "del" "0" "03894" "FKBP10_000040" "g.39975547_39975548del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "" "Germline" "" "" "0" "" "" "g.41819295_41819296del" "" "pathogenic" "" "0000785200" "21" "99" "17" "39975547" "39975548" "del" "0" "00085" "FKBP10_000040" "g.39975547_39975548del" "" "{PMID:Zhang 2018:29512769}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785201" "21" "99" "17" "39975565" "39975565" "del" "0" "03894" "FKBP10_000039" "g.39975565del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785202" "21" "99" "17" "39975565" "39975565" "del" "0" "03894" "FKBP10_000039" "g.39975565del" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785203" "11" "99" "17" "39975565" "39975565" "del" "0" "00085" "FKBP10_000039" "g.39975565del" "" "{PMID:Zhang 2018:29512769}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785204" "0" "95" "17" "39975565" "39975565" "del" "0" "00085" "FKBP10_000039" "g.39975565del" "" "{PMID:Vorster 2017:28492130}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785205" "0" "95" "17" "39975565" "39975565" "del" "0" "00085" "FKBP10_000039" "g.39975565del" "" "{PMID:Vorster 2017:28492130}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785206" "0" "95" "17" "39975565" "39975565" "del" "0" "00085" "FKBP10_000039" "g.39975565del" "" "{PMID:Vorster 2017:28492130}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785207" "0" "95" "17" "39975565" "39975565" "del" "0" "00085" "FKBP10_000039" "g.39975565del" "" "{PMID:Vorster 2017:28492130}" "" "831delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785209" "3" "99" "17" "39975565" "39975565" "dup" "0" "03704" "FKBP10_000002" "g.39975565dup" "" "{PMID:Alanay 2010:20362275}" "" "831dupC" "The variant is mistakenly described as c.831_832insC and the frameshift as p.Gly278ArgfsX295 in the paper." "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785210" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Kelley 2011:20839288}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785211" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Kelley 2011:20839288}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785212" "0" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Kelley 2011:20839288}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785213" "0" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Kelley 2011:20839288}" "" "831dupC" "No supporting evidence is presented that the misense p.(Arg115Gln) variant is disease-causing.; Kelley et al., classify this patient as having Bruck syndrome type 1, but that type maps to 17p12 ({PMID9927692:Bank et al., 1999}), whereas FKBP10 maps to 17q21.2." "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785214" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Shaheen 2011:21567934}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785215" "3" "99" "17" "39975565" "39975565" "dup" "0" "03864" "FKBP10_000002" "g.39975565dup" "" "{PMID:Caparrós-Martin 2013:23613367}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785216" "3" "99" "17" "39975565" "39975565" "dup" "0" "03704" "FKBP10_000002" "g.39975565dup" "" "{PMID:Schwarze 2013:22949511}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785217" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Schwarze 2013:22949511}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785218" "3" "99" "17" "39975565" "39975565" "dup" "0" "03704" "FKBP10_000002" "g.39975565dup" "" "{PMID:Schwarze 2013:22949511}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785219" "11" "99" "17" "39975565" "39975565" "dup" "0" "03704" "FKBP10_000002" "g.39975565dup" "" "{PMID:Schwarze 2013:22949511}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785220" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Umair 2016:26538303}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785221" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Kaneto 2016:27146342}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785222" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Xu 2017:27762305}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785223" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Alabdullatif 2016:27717089}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785224" "3" "99" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Caparros-Martin 2016:28116328}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785225" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Mrosk 2018:29499418}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "g.41819313dup" "" "pathogenic" "" "0000785227" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785228" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785229" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785230" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785231" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785232" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785233" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785234" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785235" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785236" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785237" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785238" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785239" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785240" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785241" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785242" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785243" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785244" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785245" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785246" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785247" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785248" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785249" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785250" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785251" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785252" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785253" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785254" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785255" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785256" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785257" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785258" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785259" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785260" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785261" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785262" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785263" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785264" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785265" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785266" "0" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Vorster 2017:28492130}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785267" "3" "95" "17" "39975565" "39975565" "dup" "0" "00085" "FKBP10_000002" "g.39975565dup" "" "{PMID:Barbirato 2016:27706701}" "" "831dupC" "" "Germline" "" "rs137853883" "0" "" "" "" "" "pathogenic" "" "0000785268" "3" "99" "17" "39975611" "39975613" "del" "0" "03863" "FKBP10_000017" "g.39975611_39975613del" "" "Barnes 2012, ASHG2012:120120601" "" "" "founder allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785269" "3" "99" "17" "39975611" "39975613" "del" "0" "03863" "FKBP10_000017" "g.39975611_39975613del" "" "{PMID:Barnes 2013:23712425}" "" "" "founder allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785270" "3" "99" "17" "39975611" "39975613" "del" "0" "03863" "FKBP10_000017" "g.39975611_39975613del" "" "{PMID:Barnes 2013:23712425}" "" "" "founder allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785271" "11" "99" "17" "39975613" "39975613" "subst" "0" "00085" "FKBP10_000035" "g.39975613C>G" "" "{PMID:Xu 2017:27762305}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785272" "11" "99" "17" "39975776" "39975776" "subst" "0" "03894" "FKBP10_000043" "g.39975776T>G" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "the variant deactivates a splice acceptor site, leading to a frameshift" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785273" "21" "99" "17" "39975779" "39975779" "subst" "4.06279E-6" "00085" "FKBP10_000036" "g.39975779C>G" "" "{PMID:Xu 2017:27762305}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785274" "21" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785275" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785276" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785277" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785278" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785279" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785280" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785281" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785282" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785283" "3" "99" "17" "39975812" "39975812" "dup" "0" "03704" "FKBP10_000024" "g.39975812dup" "" "{PMID:Schwarze 2013:22949511}" "" "948dupT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785284" "3" "99" "17" "39975814" "39975815" "dup" "0" "00085" "FKBP10_000019" "g.39975814_39975815dup" "" "Le Merrer 2010, ASHG 2010:21949" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785285" "3" "99" "17" "39975840" "39975840" "del" "0" "00085" "FKBP10_000030" "g.39975840del" "" "{PMID:Seyedhassani 2016:27362741}" "" "976delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785286" "21" "99" "17" "39975880" "39975880" "subst" "2.47639E-5" "03894" "FKBP10_000044" "g.39975880G>A" "" "{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}" "" "" "the variant probably interferes with a spicing enhancer or inhibitor, resulting in a frameshift." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785287" "3" "99" "17" "39975880" "39975887" "dup" "0" "00085" "FKBP10_000006" "g.39975880_39975887dup" "" "{PMID:Shaheen 2010:20696291}" "" "" "The FKBP10 variant in this patient is incorrectly described by Shaheen et al. as c.1023insGGAGAATT and p.Tyr342Glyfs*367. The patient is also homozygous for the COL1A1 variant c.613C>G, though any contribution of this variant to the phenotype is not clear.; This patients family has the ID OI_F10 ({PMID23054245:Shaheen et al., 2012})." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785288" "0" "99" "17" "39975929" "39975929" "subst" "0" "00085" "FKBP10_000055" "g.39975929T>C" "" "{PMID:Trancozo 2019:31429852}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785289" "11" "99" "17" "39976543" "39976543" "del" "0" "00085" "FKBP10_000034" "g.39976543del" "" "{PMID:Xu 2017:27762305}" "" "1086delC" "The protein-level variant description for the paternal allele is incorrectly described by the authors as p.A362fsX1.; The family in this study was presented again as Family 30 by {PMID28725987:Liu et al., 2017} with a phenotype of OI III." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785290" "0" "51" "17" "39976609" "39976609" "subst" "0" "00085" "FKBP10_000005" "g.39976609A>T" "" "" "" "" "" "Germline" "" "rs7208619" "0" "" "" "" "" "VUS" "" "0000785291" "3" "99" "17" "39976664" "39976664" "subst" "0" "00085" "FKBP10_000013" "g.39976664C>T" "" "{PMID:Steinlein 2011:22107750}" "" "" "" "Germline" "" "rs372896892" "0" "" "" "" "" "pathogenic" "" "0000785292" "3" "99" "17" "39977197" "39977197" "subst" "0" "00085" "FKBP10_000046" "g.39977197A>G" "" "{PMID:Maghami 2018:29801479}" "" "" "variant causes skipping of exon 8 and a frameshift, but the mRNA remains stable." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785293" "3" "75" "17" "39977213" "39977213" "del" "0" "01819" "FKBP10_000032" "g.39977213del" "" "{PMID:Essawi 2018:29150909}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785294" "3" "99" "17" "39977213" "39977214" "delins" "0" "03863" "FKBP10_000014" "g.39977213_39977214delinsA" "" "{PMID:Barnes 2012:22718341}" "" "1271_1272delCCinsA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785295" "3" "99" "17" "39977213" "39977214" "delins" "0" "03864" "FKBP10_000014" "g.39977213_39977214delinsA" "" "{PMID:Puig-Hervás 2012:22689593}" "" "1271_1272delCCinsA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785296" "3" "99" "17" "39977213" "39977214" "delins" "0" "03864" "FKBP10_000014" "g.39977213_39977214delinsA" "" "{PMID:Puig-Hervás 2012:22689593}" "" "1271_1272delCCinsA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785297" "0" "99" "17" "39977218" "39977218" "dup" "0" "00085" "FKBP10_000008" "g.39977218dup" "" "{PMID:Kelley 2011:20839288}" "" "1276dupC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785298" "3" "99" "17" "39977272" "39977272" "subst" "0" "03704" "FKBP10_000025" "g.39977272C>T" "" "{PMID:Schwarze 2013:22949511}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785299" "3" "95" "17" "39977272" "39977272" "subst" "0" "01819" "FKBP10_000025" "g.39977272C>T" "" "{PMID:Essawi 2018:29150909}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000785300" "3" "97" "17" "39977287" "39977287" "subst" "0" "00085" "FKBP10_000018" "g.39977287G>A" "" "Barnes 2012, ASHG2012:120120601" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785301" "3" "99" "17" "39977342" "39977342" "subst" "6.31568E-6" "00085" "FKBP10_000011" "g.39977342G>A" "" "{PMID:Venturi 2011:22061863}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785302" "21" "99" "17" "39977911" "39977911" "subst" "0" "00085" "FKBP10_000027" "g.39977911G>T" "" "{PMID:Zhou 2014:25238597}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785303" "3" "95" "17" "39977985" "39977986" "del" "0" "00085" "FKBP10_000048" "g.39977985_39977986del" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785304" "3" "95" "17" "39977985" "39977987" "delins" "0" "00085" "FKBP10_000047" "g.39977985_39977987delinsTCAG" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785305" "3" "99" "17" "39977996" "39977996" "subst" "0" "00085" "FKBP10_000029" "g.39977996G>A" "" "{PMID:Umair 2016:26538303}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785306" "0" "35" "17" "39978052" "39978052" "subst" "0.00177112" "00085" "FKBP10_000053" "g.39978052G>A" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785307" "11" "35" "17" "39978052" "39978052" "subst" "0.00177112" "00085" "FKBP10_000053" "g.39978052G>A" "" "{PMID:Barbirato 2016:27706701}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000785308" "0" "95" "17" "39978532" "39978532" "subst" "4.07578E-6" "00085" "FKBP10_000051" "g.39978532C>T" "" "{PMID:Vorster 2017:28492130}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000785309" "3" "95" "17" "39978583" "39978583" "subst" "0" "00085" "FKBP10_000049" "g.39978583C>T" "" "{PMID:Mrosk 2018:29499418}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000807955" "0" "10" "17" "39977902" "39977902" "subst" "0.00348968" "01804" "FKBP10_000071" "g.39977902C>G" "" "" "" "FKBP10(NM_021939.3):c.1400-4C>G (p.?), FKBP10(NM_021939.4):c.1400-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000846513" "3" "70" "17" "39973418" "39973418" "del" "0" "00000" "FKBP10_000093" "g.39973418del" "" "{PMID:Alabdullatif 2017:27717089}" "" "FKBP10 c.354delT, (p.Ile118Metfs*41)" "homozygous" "Germline" "yes" "" "0" "" "" "g.41817166del" "" "likely pathogenic" "" "0000854880" "0" "30" "17" "39977249" "39977249" "subst" "0.00252654" "01943" "FKBP10_000080" "g.39977249T>C" "" "" "" "FKBP10(NM_021939.3):c.1307T>C (p.I436T, p.(Ile436Thr)), FKBP10(NM_021939.4):c.1307T>C (p.I436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865212" "0" "50" "17" "39975554" "39975554" "subst" "0" "01804" "FKBP10_000094" "g.39975554G>A" "" "" "" "FKBP10(NM_021939.3):c.820G>A (p.(Glu274Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000880198" "0" "50" "17" "39978578" "39978578" "subst" "0.000834581" "04391" "FKBP10_000095" "g.39978578G>A" "250/280688 chromosomes" "" "" "" "" "Unknown" "?" "rs138281924" "0" "" "" "g.41822326G>A" "{CV:193735}" "VUS" "ACMG" "0000893548" "0" "30" "17" "39973305" "39973305" "subst" "0.00133298" "01804" "FKBP10_000062" "g.39973305C>G" "" "" "" "FKBP10(NM_021939.3):c.246-5C>G (p.?), FKBP10(NM_021939.4):c.246-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893549" "0" "50" "17" "39974378" "39974378" "subst" "3.26286E-5" "01804" "FKBP10_000096" "g.39974378T>G" "" "" "" "FKBP10(NM_021939.3):c.429T>G (p.(Asp143Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914807" "0" "30" "17" "39978578" "39978578" "subst" "0.000834581" "01804" "FKBP10_000095" "g.39978578G>A" "" "" "" "FKBP10(NM_021939.3):c.1667G>A (p.(Arg556His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922762" "0" "90" "17" "39975779" "39975779" "subst" "4.06279E-6" "04465" "FKBP10_000036" "g.39975779C>G" "" "{PMID:Tan 2023:36655627}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922763" "3" "90" "17" "39975779" "39975779" "subst" "4.06279E-6" "04465" "FKBP10_000036" "g.39975779C>G" "" "{PMID:Tan 2023:36655627}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922764" "3" "90" "17" "39975779" "39975779" "subst" "4.06279E-6" "04465" "FKBP10_000036" "g.39975779C>G" "" "{PMID:Tan 2023:36655627}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000922785" "0" "90" "17" "39975479" "39975479" "subst" "8.12275E-6" "04465" "FKBP10_000097" "g.39975479C>T" "" "{PMID:Tan 2023:36655627}" "" "" "The patient is compound heterozygote for the gene." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "" "0000922786" "0" "90" "17" "39975565" "39975565" "dup" "0" "04465" "FKBP10_000002" "g.39975565dup" "" "{PMID:Tan 2023:36655627}" "" "" "The patient is compound heterozygote for this gene" "Germline/De novo (untested)" "" "" "0" "" "" "g.41819313dup" "" "pathogenic" "" "0000922787" "3" "90" "17" "39975565" "39975565" "dup" "0" "04465" "FKBP10_000002" "g.39975565dup" "" "{PMID:Tan 2023:36655627}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41819313dup" "" "pathogenic (recessive)" "" "0000922788" "3" "90" "17" "39973407" "39973407" "subst" "1.62812E-5" "04465" "FKBP10_000033" "g.39973407C>T" "" "{PMID:Tan 2023:36655627}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000930754" "0" "50" "17" "39977260" "39977260" "subst" "0" "01804" "FKBP10_000098" "g.39977260G>A" "" "" "" "FKBP10(NM_021939.3):c.1318G>A (p.(Asp440Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930755" "0" "30" "17" "39977305" "39977305" "subst" "0.00133929" "01804" "FKBP10_000072" "g.39977305A>G" "" "" "" "FKBP10(NM_021939.3):c.1363A>G (p.I455V, p.(Ile455Val)), FKBP10(NM_021939.4):c.1363A>G (p.I455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950866" "0" "30" "17" "39975699" "39975699" "subst" "1.22019E-5" "02329" "FKBP10_000099" "g.39975699A>G" "" "" "" "FKBP10(NM_021939.4):c.917+48A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950867" "0" "30" "17" "39976261" "39976261" "subst" "0" "02329" "FKBP10_000100" "g.39976261A>G" "" "" "" "FKBP10(NM_021939.4):c.1064-260A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982473" "0" "50" "17" "39969495" "39969495" "subst" "6.50174E-5" "01804" "FKBP10_000101" "g.39969495A>G" "" "" "" "FKBP10(NM_021939.4):c.209A>G (p.(Asn70Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003211" "0" "30" "17" "39973307" "39973307" "dup" "0" "01804" "FKBP10_000102" "g.39973307dup" "" "" "" "FKBP10(NM_021939.3):c.246-3dupC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003212" "0" "90" "17" "39976714" "39976714" "subst" "0" "02329" "FKBP10_000103" "g.39976714G>C" "" "" "" "FKBP10(NM_021939.4):c.1256+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003213" "0" "30" "17" "39976733" "39976733" "subst" "0.00119426" "02329" "FKBP10_000104" "g.39976733G>A" "" "" "" "FKBP10(NM_021939.4):c.1256+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026886" "0" "30" "17" "39976730" "39976730" "del" "0" "02329" "FKBP10_000105" "g.39976730del" "" "" "" "FKBP10(NM_021939.4):c.1256+17delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041827" "0" "30" "17" "39969298" "39969298" "subst" "0" "01804" "FKBP10_000106" "g.39969298G>T" "" "" "" "FKBP10(NM_021939.4):c.12G>T (p.(Ala4=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041828" "0" "30" "17" "39969307" "39969307" "subst" "0.000296394" "02329" "FKBP10_000107" "g.39969307C>T" "" "" "" "FKBP10(NM_021939.4):c.21C>T (p.P7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041829" "0" "30" "17" "39973305" "39973305" "subst" "1.63556E-5" "01804" "FKBP10_000108" "g.39973305C>A" "" "" "" "FKBP10(NM_021939.4):c.246-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041830" "0" "50" "17" "39973458" "39973458" "subst" "0" "01804" "FKBP10_000109" "g.39973458G>A" "" "" "" "FKBP10(NM_021939.4):c.391+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041831" "0" "30" "17" "39975704" "39975704" "subst" "0" "01804" "FKBP10_000076" "g.39975704G>T" "" "" "" "FKBP10(NM_021939.4):c.917+53G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041832" "0" "50" "17" "39976583" "39976583" "subst" "0" "01804" "FKBP10_000110" "g.39976583C>A" "" "" "" "FKBP10(NM_021939.4):c.1126C>A (p.(Pro376Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048285" "3" "90" "17" "39975565" "39975565" "dup" "0" "00006" "FKBP10_000002" "g.39975565dup" "" "{PMID:Tuysuz 2022:34902613}" "" "831dupC" "" "Germline" "" "" "0" "" "" "g.41819313dup" "VCV000438659.2" "pathogenic" "" "0001048286" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048287" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048288" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048289" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048290" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048291" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048292" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048293" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048294" "3" "90" "17" "39975624" "39975631" "dup" "0" "00006" "FKBP10_000089" "g.39975624_39975631dup" "" "{PMID:Tuysuz 2022:34902613}" "" "890_897dupTGATGGAC" "" "Germline" "" "" "0" "" "" "g.41819372_41819379dup" "VCV000631496.2" "pathogenic" "" "0001048295" "3" "90" "17" "39976714" "39976714" "subst" "1.22339E-5" "00006" "FKBP10_000090" "g.39976714G>A" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.41820462G>A" "" "pathogenic" "" "0001048296" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "VCV000631496.2" "pathogenic" "" "0001048297" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "VCV000631496.2" "pathogenic" "" "0001048298" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "VCV000631496.2" "pathogenic" "" "0001048299" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "VCV000631496.2" "pathogenic" "" "0001048300" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "VCV000631496.2" "pathogenic" "" "0001048301" "3" "90" "17" "39973385" "39973417" "del" "0" "00006" "FKBP10_000001" "g.39973385_39973417del" "" "{PMID:Tuysuz 2022:34902613}" "" "" "ACMG" "Germline" "" "" "0" "" "" "g.41817133_41817165del" "" "pathogenic" "" "0001055997" "0" "50" "17" "39978577" "39978588" "del" "0" "01804" "FKBP10_000111" "g.39978577_39978588del" "" "" "" "FKBP10(NM_021939.4):c.1666_1677del (p.(Arg556_Asp559del))" "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 FKBP10 ## Count = 245 "{{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}}" "0000250128" "00007986" "10" "732" "0" "732" "0" "c.732A>G" "r.(?)" "p.(Thr244=)" "" "0000250150" "00007986" "10" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Lys197Arg)" "" "0000250359" "00007986" "30" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Ile455Val)" "" "0000250481" "00007986" "30" "917" "16" "917" "16" "c.917+16A>G" "r.(=)" "p.(=)" "" "0000283219" "00007986" "30" "1256" "16" "1256" "16" "c.1256+16G>T" "r.(=)" "p.(=)" "" "0000283221" "00007986" "30" "1257" "-7" "1257" "-7" "c.1257-7C>T" "r.(=)" "p.(=)" "" "0000283222" "00007986" "10" "1400" "-4" "1400" "-4" "c.1400-4C>G" "r.spl?" "p.?" "" "0000283223" "00007986" "10" "245" "18" "245" "18" "c.245+18C>T" "r.(=)" "p.(=)" "" "0000283224" "00007986" "30" "246" "-5" "246" "-5" "c.246-5C>G" "r.spl?" "p.?" "" "0000283225" "00007986" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115Ter)" "" "0000283226" "00007986" "30" "420" "0" "420" "0" "c.420C>G" "r.(?)" "p.(Leu140=)" "" "0000561439" "00007986" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Glu58Lys)" "" "0000561440" "00007986" "50" "210" "0" "210" "0" "c.210C>G" "r.(?)" "p.(Asn70Lys)" "" "0000561441" "00007986" "30" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Lys197Arg)" "" "0000561442" "00007986" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Arg)" "" "0000561443" "00007986" "10" "917" "53" "917" "53" "c.917+53G>T" "r.(=)" "p.(=)" "" "0000561445" "00007986" "10" "1256" "14" "1256" "14" "c.1256+14G>C" "r.(=)" "p.(=)" "" "0000561446" "00007986" "10" "1256" "17" "1256" "17" "c.1256+17dup" "r.(=)" "p.(=)" "" "0000561447" "00007986" "30" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Ile436Thr)" "" "0000561448" "00007986" "30" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Ile436Thr)" "" "0000561449" "00007986" "30" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Ile455Val)" "" "0000616542" "00007986" "50" "106" "0" "106" "0" "c.106C>A" "r.(?)" "p.(Pro36Thr)" "" "0000616543" "00007986" "30" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Leu364=)" "" "0000616544" "00007986" "50" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Leu)" "" "0000616545" "00007986" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Gln426=)" "" "0000649564" "00007986" "50" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Lys197Arg)" "" "0000649565" "00007986" "70" "917" "53" "917" "53" "c.917+53G>T" "r.(=)" "p.(=)" "" "0000649566" "00007986" "50" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Ile436Thr)" "" "0000658110" "00007986" "30" "727" "236" "727" "236" "c.727+236C>A" "r.(=)" "p.(=)" "" "0000664374" "00007986" "90" "1271" "0" "1272" "0" "c.1271_1272delinsA" "r.(?)" "p.(Ala424Aspfs*12)" "" "0000664375" "00007986" "90" "1271" "0" "1272" "0" "c.1271_1272delinsA" "r.(?)" "p.(Ala424Aspfs*12)" "" "0000664385" "00007986" "90" "764" "0" "772" "0" "c.764_772dup" "r.(?)" "p.(His255_Leu257dup)" "" "0000664387" "00007986" "90" "1405" "0" "1405" "0" "c.1405G>T" "r.(?)" "p.(Gly469*)" "" "0000664416" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "" "0000664447" "00007986" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "2" "0000664448" "00007986" "90" "918" "-3" "918" "-3" "c.918-3C>G" "r.spl" "p.?" "5i" "0000664456" "00007986" "90" "1086" "0" "1086" "0" "c.1086del" "r.(?)" "p.(Val363Cysfs*2)" "7" "0000664457" "00007986" "90" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(Tyr293*)" "5" "0000664512" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000669393" "00007986" "50" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Lys197Arg)" "" "0000680853" "00007986" "70" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Ter)" "" "0000680854" "00007986" "30" "582" "-4" "582" "-4" "c.582-4G>T" "r.spl?" "p.?" "" "0000692333" "00007986" "30" "246" "-283" "246" "-283" "c.246-283T>A" "r.(=)" "p.(=)" "" "0000692334" "00007986" "30" "942" "0" "942" "0" "c.942T>C" "r.(?)" "p.(Asn314=)" "" "0000712622" "00007986" "77" "1256" "1" "1256" "1" "c.1256+1G>A" "r.(?)" "p.?" "" "0000712623" "00007986" "99" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300*)" "" "0000712624" "00007986" "99" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300*)" "" "0000726344" "00007986" "90" "703" "0" "703" "0" "c.703del" "r.(?)" "p.(Leu235Trpfs*11)" "" "0000726345" "00007986" "50" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Leu)" "" "0000726346" "00007986" "50" "1256" "0" "1256" "0" "c.1256C>T" "r.(?)" "p.(Ser419Leu)" "" "0000726347" "00007986" "30" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Glu516Lys)" "" "0000729950" "00007986" "90" "1034" "0" "1034" "0" "c.1034dup" "r.(?)" "p.(His346Alafs*27)" "" "0000729951" "00007986" "90" "1016" "0" "1023" "0" "c.1016_1023dup" "r.(?)" "p.(Thr342Glyfs*26)" "" "0000729952" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "" "0000729953" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "" "0000729954" "00007986" "90" "1016" "0" "1023" "0" "c.1016_1023dup" "r.(?)" "p.(Thr342Glyfs*26)" "" "0000729955" "00007986" "90" "1016" "0" "1023" "0" "c.1016_1023dup" "r.(?)" "p.(Thr342Glyfs*26)" "" "0000729956" "00007986" "90" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "" "0000785168" "00007986" "99" "14" "0" "14" "0" "c.14del" "r.(?)" "p.(Gly5Alafs*154)" "1" "0000785169" "00007986" "99" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Ser8Glnfs*67)" "1" "0000785170" "00007986" "99" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Ser8Glnfs*67)" "1" "0000785171" "00007986" "99" "122" "0" "156" "0" "c.122_156del" "r.(?)" "p.(Leu41Glnfs*22)" "1" "0000785172" "00007986" "99" "179" "0" "179" "0" "c.179A>C" "r.(?)" "p.(Gln60Pro)" "1" "0000785173" "00007986" "99" "204" "0" "204" "0" "c.204delinsAAA" "r.(?)" "p.(His68Glnfs*92)" "1" "0000785174" "00007986" "99" "288" "0" "288" "0" "c.288dup" "r.(?)" "p.(Arg97Alafs*101)" "2" "0000785175" "00007986" "99" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104*)" "2" "0000785176" "00007986" "99" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "2" "0000785177" "00007986" "99" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "2" "0000785178" "00007986" "99" "337" "0" "337" "0" "c.337G>A" "r.(?)" "p.(Glu113Lys)" "2" "0000785179" "00007986" "99" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "2" "0000785180" "00007986" "95" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "2" "0000785181" "00007986" "97" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "2" "0000785182" "00007986" "99" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "2" "0000785183" "00007986" "99" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "2" "0000785184" "00007986" "99" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Gln)" "2" "0000785185" "00007986" "99" "391" "4" "391" "4" "c.391+4A>T" "r.spl" "p.?" "2i" "0000785186" "00007986" "99" "391" "4" "391" "4" "c.391+4A>T" "r.spl" "p.?" "2i" "0000785187" "00007986" "99" "407" "0" "407" "0" "c.407C>T" "r.(?)" "p.(Pro136Leu)" "3" "0000785188" "00007986" "99" "0" "0" "0" "0" "c.727+102_*809{0}" "r.?" "p.?" "4i_10_" "0000785190" "00007986" "95" "590" "0" "590" "0" "c.590A>G" "r.(?)" "p.(Lys197Arg)" "4" "0000785191" "00007986" "99" "600" "0" "604" "0" "c.600_604del" "r.(?)" "p.(Tyr201Hisfs*58)" "4" "0000785192" "00007986" "99" "612" "0" "612" "0" "c.612C>G" "r.(?)" "p.(Tyr204*)" "4" "0000785193" "00007986" "99" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Ile230Thr)" "4" "0000785194" "00007986" "51" "732" "0" "732" "0" "c.732A>G" "r.(?)" "p.(=)" "5" "0000785195" "00007986" "99" "743" "0" "743" "0" "c.743dup" "r.(?)" "p.(Gln249Thrfs*12)" "5" "0000785196" "00007986" "99" "743" "0" "743" "0" "c.743dup" "r.(?)" "p.(Gln249Thrfs*12)" "5" "0000785197" "00007986" "99" "764" "0" "772" "0" "c.764_772dup" "r.(?)" "p.(His255_Leu257dup)" "5" "0000785198" "00007986" "99" "809" "0" "843" "0" "c.809_843del" "r.(?)" "p.(Leu270Glnfs*91)" "5" "0000785199" "00007986" "99" "813" "0" "814" "0" "c.813_814del" "r.(?)" "p.(Glu271Aspfs*101)" "5" "0000785200" "00007986" "99" "813" "0" "814" "0" "c.813_814del" "r.(?)" "p.(Glu271Aspfs*101)" "5" "0000785201" "00007986" "99" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785202" "00007986" "99" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785203" "00007986" "99" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785204" "00007986" "95" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785205" "00007986" "95" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785206" "00007986" "95" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785207" "00007986" "95" "831" "0" "831" "0" "c.831del" "r.(?)" "p.(Gly278Alafs*20)" "5" "0000785209" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785210" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785211" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785212" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785213" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785214" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785215" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785216" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785217" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785218" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785219" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785220" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785221" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785222" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785223" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785224" "00007986" "99" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785225" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785227" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785228" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785229" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785230" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785231" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785232" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785233" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785234" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785235" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785236" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785237" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785238" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785239" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785240" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785241" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785242" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785243" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785244" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785245" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785246" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785247" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785248" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785249" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785250" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785251" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785252" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785253" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785254" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785255" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785256" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785257" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785258" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785259" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785260" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785261" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785262" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785263" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785264" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785265" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785266" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785267" "00007986" "95" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "5" "0000785268" "00007986" "99" "877" "0" "879" "0" "c.877_879del" "r.(?)" "p.(Tyr293del)" "5" "0000785269" "00007986" "99" "877" "0" "879" "0" "c.877_879del" "r.(?)" "p.(Tyr293del)" "5" "0000785270" "00007986" "99" "877" "0" "879" "0" "c.877_879del" "r.(?)" "p.(Tyr293del)" "5" "0000785271" "00007986" "99" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(Tyr293*)" "5" "0000785272" "00007986" "99" "918" "-6" "918" "-6" "c.918-6T>G" "r.spl" "p.(Ser306Argfs*18)" "5i" "0000785273" "00007986" "99" "918" "-3" "918" "-3" "c.918-3C>G" "r.spl" "p.?" "5i" "0000785274" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785275" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785276" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785277" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785278" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785279" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785280" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785281" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785282" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785283" "00007986" "99" "948" "0" "948" "0" "c.948dup" "r.(?)" "p.(Ile317Tyrfs*56)" "6" "0000785284" "00007986" "99" "950" "0" "951" "0" "c.950_951dup" "r.(?)" "p.(Gly318Serfs*48)" "6" "0000785285" "00007986" "99" "976" "0" "976" "0" "c.976del" "r.(?)" "p.(Met326Trpfs*39)" "6" "0000785286" "00007986" "99" "1016" "0" "1016" "0" "c.1016G>A" "r.spl?" "p.(Ser306Argfs*18)" "6" "0000785287" "00007986" "99" "1016" "0" "1023" "0" "c.1016_1023dup" "r.(?)" "p.(Thr342Glyfs*26)" "6" "0000785288" "00007986" "99" "1063" "2" "1063" "2" "c.1063+2T>C" "r.spl" "p.?" "6i" "0000785289" "00007986" "99" "1086" "0" "1086" "0" "c.1086del" "r.(?)" "p.(Val363Cysfs*2)" "7" "0000785290" "00007986" "51" "1152" "0" "1152" "0" "c.1152A>T" "r.(?)" "p.(=)" "7" "0000785291" "00007986" "99" "1207" "0" "1207" "0" "c.1207C>T" "r.(?)" "p.(Arg403*)" "7" "0000785292" "00007986" "99" "1257" "-2" "1257" "-2" "c.1257-2A>G" "r.spl" "p.?" "7i" "0000785293" "00007986" "75" "1271" "0" "1271" "0" "c.1271del" "r.(?)" "p.(Gln426Argfs*10)" "8" "0000785294" "00007986" "99" "1271" "0" "1272" "0" "c.1271_1272delinsA" "r.(?)" "p.(Ala424Aspfs*12)" "8" "0000785295" "00007986" "99" "1271" "0" "1272" "0" "c.1271_1272delinsA" "r.(?)" "p.(Ala424Aspfs*12)" "8" "0000785296" "00007986" "99" "1271" "0" "1272" "0" "c.1271_1272delinsA" "r.(?)" "p.(Ala424Aspfs*12)" "8" "0000785297" "00007986" "99" "1276" "0" "1276" "0" "c.1276dup" "r.(?)" "p.(Gln426Profs*54)" "8" "0000785298" "00007986" "99" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Gln444*)" "8" "0000785299" "00007986" "95" "1330" "0" "1330" "0" "c.1330C>T" "r.(?)" "p.(Gln444*)" "8" "0000785300" "00007986" "97" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Gly449Arg)" "8" "0000785301" "00007986" "99" "1399" "1" "1399" "1" "c.1399+1G>A" "r.spl" "p.?" "8i" "0000785302" "00007986" "99" "1405" "0" "1405" "0" "c.1405G>T" "r.(?)" "p.(Gly469*)" "9" "0000785303" "00007986" "95" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Leu494Valfs*13)" "9" "0000785304" "00007986" "95" "1479" "0" "1481" "0" "c.1479_1481delinsTCAG" "r.(?)" "p.(Leu494Glnfs*14)" "9" "0000785305" "00007986" "99" "1490" "0" "1490" "0" "c.1490G>A" "r.(?)" "p.(Trp497*)" "9" "0000785306" "00007986" "35" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Glu516Lys)" "10" "0000785307" "00007986" "35" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Glu516Lys)" "10" "0000785308" "00007986" "95" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.?" "10" "0000785309" "00007986" "95" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558*)" "10" "0000807955" "00007986" "10" "1400" "-4" "1400" "-4" "c.1400-4C>G" "r.spl?" "p.?" "" "0000846513" "00007986" "70" "354" "0" "354" "0" "c.354delT" "r.(?)" "p.(Ile118Metfs*41)" "" "0000854880" "00007986" "30" "1307" "0" "1307" "0" "c.1307T>C" "r.(?)" "p.(Ile436Thr)" "" "0000865212" "00007986" "50" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Glu274Lys)" "" "0000880198" "00007986" "50" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Arg556His)" "10" "0000893548" "00007986" "30" "246" "-5" "246" "-5" "c.246-5C>G" "r.spl?" "p.?" "" "0000893549" "00007986" "50" "429" "0" "429" "0" "c.429T>G" "r.(?)" "p.(Asp143Glu)" "" "0000914807" "00007986" "30" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Arg556His)" "" "0000922762" "00007986" "90" "918" "-3" "918" "-3" "c.918-3C>G" "r.spl?" "p.?" "" "0000922763" "00007986" "90" "918" "-3" "918" "-3" "c.918-3C>G" "r.spl?" "p.?" "" "0000922764" "00007986" "90" "918" "-3" "918" "-3" "c.918-3C>G" "r.spl?" "p.?" "" "0000922785" "00007986" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249*)" "" "0000922786" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "" "0000922787" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278Argfs*95)" "" "0000922788" "00007986" "90" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "" "0000930754" "00007986" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Asp440Asn)" "" "0000930755" "00007986" "30" "1363" "0" "1363" "0" "c.1363A>G" "r.(?)" "p.(Ile455Val)" "" "0000950866" "00007986" "30" "917" "48" "917" "48" "c.917+48A>G" "r.(=)" "p.(=)" "" "0000950867" "00007986" "30" "1064" "-260" "1064" "-260" "c.1064-260A>G" "r.(=)" "p.(=)" "" "0000982473" "00007986" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "" "0001003211" "00007986" "30" "246" "-3" "246" "-3" "c.246-3dup" "r.spl?" "p.?" "" "0001003212" "00007986" "90" "1256" "1" "1256" "1" "c.1256+1G>C" "r.spl?" "p.?" "" "0001003213" "00007986" "30" "1256" "20" "1256" "20" "c.1256+20G>A" "r.(=)" "p.(=)" "" "0001026886" "00007986" "30" "1256" "17" "1256" "17" "c.1256+17del" "r.(=)" "p.(=)" "" "0001041827" "00007986" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(=)" "" "0001041828" "00007986" "30" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(=)" "" "0001041829" "00007986" "30" "246" "-5" "246" "-5" "c.246-5C>A" "r.spl?" "p.?" "" "0001041830" "00007986" "50" "391" "3" "391" "3" "c.391+3G>A" "r.spl?" "p.?" "" "0001041831" "00007986" "30" "917" "53" "917" "53" "c.917+53G>T" "r.(=)" "p.(=)" "" "0001041832" "00007986" "50" "1126" "0" "1126" "0" "c.1126C>A" "r.(?)" "p.(Pro376Thr)" "" "0001048285" "00007986" "90" "831" "0" "831" "0" "c.831dup" "r.(?)" "p.(Gly278ArgfsTer95)" "" "0001048286" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048287" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048288" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048289" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048290" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048291" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048292" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048293" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048294" "00007986" "90" "890" "0" "897" "0" "c.890_897dup" "r.(?)" "p.(Gly300Ter)" "" "0001048295" "00007986" "90" "1256" "1" "1256" "1" "c.1256+1G>A" "r.spl" "p.?" "" "0001048296" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001048297" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001048298" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001048299" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001048300" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001048301" "00007986" "90" "321" "0" "353" "0" "c.321_353del" "r.(?)" "p.(Met107_Leu117del)" "" "0001055997" "00007986" "50" "1666" "0" "1677" "0" "c.1666_1677del" "r.(?)" "p.(Arg556_Asp559del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 189 "{{screeningid}}" "{{variantid}}" "0000292875" "0000649564" "0000292876" "0000649565" "0000292877" "0000649566" "0000301438" "0000664374" "0000301439" "0000664375" "0000301447" "0000664385" "0000301447" "0000664387" "0000301466" "0000664416" "0000301497" "0000664447" "0000301497" "0000664456" "0000301498" "0000664448" "0000301498" "0000664457" "0000301554" "0000664512" "0000305705" "0000669393" "0000328663" "0000712622" "0000328664" "0000712623" "0000328665" "0000712624" "0000332668" "0000729950" "0000332669" "0000729951" "0000332670" "0000729952" "0000332671" "0000729953" "0000332672" "0000729954" "0000332673" "0000729955" "0000332674" "0000729956" "0000374404" "0000785168" "0000374405" "0000785169" "0000374406" "0000785170" "0000374407" "0000785171" "0000374408" "0000785172" "0000374408" "0000785288" "0000374409" "0000785173" "0000374410" "0000785174" "0000374411" "0000785175" "0000374412" "0000785176" "0000374413" "0000785177" "0000374414" "0000785178" "0000374415" "0000785179" "0000374415" "0000785289" "0000374416" "0000785180" "0000374416" "0000785243" "0000374417" "0000785181" "0000374417" "0000785213" "0000374418" "0000785182" "0000374419" "0000785183" "0000374420" "0000785184" "0000374420" "0000785201" "0000374421" "0000785185" "0000374422" "0000785186" "0000374423" "0000785187" "0000374424" "0000785188" "0000374424" "0000785202" "0000374426" "0000785190" "0000374427" "0000785191" "0000374428" "0000785192" "0000374429" "0000785193" "0000374430" "0000785194" "0000374431" "0000785195" "0000374432" "0000785196" "0000374433" "0000785197" "0000374433" "0000785302" "0000374434" "0000785198" "0000374434" "0000785199" "0000374435" "0000785200" "0000374435" "0000785203" "0000374436" "0000785204" "0000374436" "0000785228" "0000374437" "0000785205" "0000374437" "0000785229" "0000374438" "0000785206" "0000374438" "0000785230" "0000374439" "0000785207" "0000374439" "0000785231" "0000374441" "0000785209" "0000374442" "0000785210" "0000374443" "0000785211" "0000374444" "0000785212" "0000374444" "0000785297" "0000374445" "0000785214" "0000374446" "0000785215" "0000374447" "0000785216" "0000374448" "0000785217" "0000374449" "0000785218" "0000374450" "0000785219" "0000374450" "0000785274" "0000374451" "0000785220" "0000374452" "0000785221" "0000374453" "0000785222" "0000374454" "0000785223" "0000374455" "0000785224" "0000374456" "0000785225" "0000374458" "0000785227" "0000374459" "0000785232" "0000374460" "0000785233" "0000374461" "0000785234" "0000374462" "0000785235" "0000374463" "0000785236" "0000374464" "0000785237" "0000374465" "0000785238" "0000374466" "0000785239" "0000374467" "0000785240" "0000374468" "0000785241" "0000374469" "0000785242" "0000374470" "0000785244" "0000374471" "0000785245" "0000374472" "0000785246" "0000374473" "0000785247" "0000374474" "0000785248" "0000374475" "0000785249" "0000374476" "0000785250" "0000374477" "0000785251" "0000374478" "0000785252" "0000374479" "0000785253" "0000374480" "0000785254" "0000374481" "0000785255" "0000374482" "0000785256" "0000374483" "0000785257" "0000374484" "0000785258" "0000374485" "0000785259" "0000374486" "0000785260" "0000374487" "0000785261" "0000374488" "0000785262" "0000374489" "0000785263" "0000374490" "0000785264" "0000374491" "0000785265" "0000374492" "0000785266" "0000374492" "0000785308" "0000374493" "0000785267" "0000374494" "0000785268" "0000374495" "0000785269" "0000374496" "0000785270" "0000374497" "0000785271" "0000374497" "0000785273" "0000374498" "0000785272" "0000374498" "0000785286" "0000374499" "0000785275" "0000374500" "0000785276" "0000374501" "0000785277" "0000374502" "0000785278" "0000374503" "0000785279" "0000374504" "0000785280" "0000374505" "0000785281" "0000374506" "0000785282" "0000374507" "0000785283" "0000374508" "0000785284" "0000374509" "0000785285" "0000374510" "0000785287" "0000374511" "0000785290" "0000374512" "0000785291" "0000374513" "0000785292" "0000374514" "0000785293" "0000374515" "0000785294" "0000374516" "0000785295" "0000374517" "0000785296" "0000374518" "0000785298" "0000374519" "0000785299" "0000374520" "0000785300" "0000374521" "0000785301" "0000374522" "0000785303" "0000374523" "0000785304" "0000374524" "0000785305" "0000374525" "0000785306" "0000374526" "0000785307" "0000374527" "0000785309" "0000409359" "0000846513" "0000419943" "0000880198" "0000436385" "0000922762" "0000436386" "0000922763" "0000436387" "0000922764" "0000436404" "0000922785" "0000436404" "0000922786" "0000436405" "0000922787" "0000436406" "0000922788" "0000468451" "0001048285" "0000468452" "0001048286" "0000468453" "0001048287" "0000468454" "0001048288" "0000468455" "0001048289" "0000468456" "0001048290" "0000468457" "0001048291" "0000468458" "0001048292" "0000468459" "0001048293" "0000468460" "0001048294" "0000468461" "0001048295" "0000468462" "0001048296" "0000468463" "0001048297" "0000468464" "0001048298" "0000468465" "0001048299" "0000468466" "0001048300" "0000468467" "0001048301"