All individuals with variants in gene BMPR1A

342 entries on 4 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00022288 - - - - - Norway - - 0 - - CRC rectal neuroendocrine tumour, 34 years, colorectal adenomas. 1 1 Maren Fridtjofsen Hansen
00034848 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034849 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034850 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034851 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034852 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034853 - - - - - Germany - - 0 - - ? juvenile Parkinson syndrome 1 1 Andreas Laner
00050005 JP91-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050006 I:2 PubMed: O'Riordan 2010, Journal: O'Riordan 2010 - F - (Ireland) (European) - 0 - - HMPS2 HMPS 1 8 Global Variome, with Curator vacancy
00050007 12136244-JUV-39 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 31y-two gastric polyps 1 1 Global Variome, with Curator vacancy
00050008 17873119-Pat64 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00050009 JP72-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050010 JP24 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050011 SNU-JP1 PubMed: Kim 2003, Journal: Kim 2003 - - - Korea (Asian) - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050012 1469 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050013 12136244-JUV-28 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS 52y-gastroscopy because of duodenal ulcer, no gastric polyposis 1 1 Global Variome, with Curator vacancy
00050014 5418 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050015 JP52 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050016 17873119-Pat45 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00050017 JP74-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050018 case 6 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050019 JP154-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050020 JP19 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050021 E1 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS 1 8 Global Variome, with Curator vacancy
00050022 12136244-JUV-27 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS ventricular or atrial septal defect (congenital heart disease); gastric polyposis not examined 1 1 Global Variome, with Curator vacancy
00050023 20 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050024 309-1 PubMed: Zhou 2001, Journal: Zhou 2001 - F - (United States) European - 0 - - BRRS - 1 1 Global Variome, with Curator vacancy
00050025 341 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050026 case 7 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050027 18 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050028 12136244-JUV-17 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS gastric polyposis not examined 1 1 Global Variome, with Curator vacancy
00050029 19 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050030 10 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050031 JP61 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050032 JP59 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050033 JP7/19 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050034 B2 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS 1 5 Global Variome, with Curator vacancy
00050035 17873119-Pat59 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00050036 JP8/1 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050037 SM316 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050038 Group 2/G PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050039 Group 2/F PubMed: Sweet 2005, Journal: Sweet 2005 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050040 case 3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050041 12 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050042 17873119-Pat70 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00050043 21 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050044 II-2 PubMed: Howe 2008, Journal: Howe 2008 - M - (United States) (American) - 0 - - JPS JPS 1 4 Global Variome, with Curator vacancy
00050045 case 5 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050046 JP12 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050047 - PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) - - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050048 17873119-Pat79 PubMed: Aretz 2007 - - - Germany - - 0 - - JPS see paper; ... 1 1 Global Variome, with Curator vacancy
00050049 JP85-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050050 JP25-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050051 JP60 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050052 case 8 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050053 Fam2Pat2 PubMed: Cao 2006, Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - HMPS2 HMPS 1 5 Global Variome, with Curator vacancy
00050054 98 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050055 12136244-JUV-41 PubMed: Friedl 2002 - - - Germany - - 0 - - JPS gastric polyposis not examined 1 1 Global Variome, with Curator vacancy
00050056 JP53-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050057 S5 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS 1 5 Global Variome, with Curator vacancy
00050058 DI PubMed: Lipton 2003, Journal: Lipton 2003 - - - - (European) - 0 - - ? multiple adenoma phenotype 1 1 Global Variome, with Curator vacancy
00050059 D2 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - JPS JPS 1 8 Global Variome, with Curator vacancy
00050060 JP7 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - JPS FJP 1 1 Global Variome, with Curator vacancy
00050061 III:2 PubMed: Nieminen 2011, Journal: Nieminen 2011 - M - (Finland) (European) - 0 - - HNPCC FCCX 1 14 Global Variome, with Curator vacancy
00050062 16 PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00050063 2384 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - - (France) (European) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050064 case 1 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050065 JP155-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050066 case 2 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - - (United States) (American) - 0 - - JPS JPS 1 1 Global Variome, with Curator vacancy
00050067 FT PubMed: Zhou 2001, Journal: Zhou 2001 - - - (United States) European - 0 - - JPS - 1 1 Global Variome, with Curator vacancy
00090455 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090456 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090457 - - gene panel study on controls - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - Healthy/Control - 1 1 Melissa DeRycke
00090459 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090460 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00090461 - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - CRC - 1 1 Melissa DeRycke
00155013 - - - F - Australia;(Australia) - >79y 0 - - CRC - 1 1 M Walsh
00164997 - - - - - - - - 0 - - CRC - 1 1 Jessada Thutkawkorapin
00183531 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - ? MSI; MMR-deficient tumours 1 1 Stephanie Baert-Desurmont
00183532 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - FAP Adenomatous polyposis (>10 adenomas) 1 1 Stephanie Baert-Desurmont
00183533 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - CRC <41y CRC without suggestive familial history 1 1 Stephanie Baert-Desurmont
00183534 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - JPS Juvenile polyposis 1 1 Stephanie Baert-Desurmont
00183535 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - JPS Juvenile polyposis 1 1 Stephanie Baert-Desurmont
00183536 29967336-Pat PubMed: Baert-Desurmont 2018 - - - France - - 0 - - JPS Juvenile polyposis 1 1 Stephanie Baert-Desurmont
00183537 29967336-Pat PubMed: Baert-Desurmont 2018 - M - France - - 0 - - JPS Juvenile polyposis 1 1 Stephanie Baert-Desurmont
00204350 FamPatIII2 PubMed: Joziasse 2011 3-generation family, 1 affected M - Netherlands - - 0 - - ASD Down syndrome, congenital heart defect; unaffected carrier father 1 5 LOVD
00218418 JP10-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 9 Karl Heinimann
00218419 JP10-2 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218420 JP10-3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218421 JP10-4 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218422 JP10-5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218423 JP10-6 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218424 JP10-7 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218425 JP10-8 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218426 JP10-9 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218427 JP82-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218428 JP80-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218429 JP64-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
00218430 JP13-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 2 Karl Heinimann
00218431 JP13-2 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - JPS JPS 1 1 Karl Heinimann
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