Unique variants in the BMPR1A gene

Information The variants shown are described using the NM_004329.2 transcript reference sequence.

161 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.? r.(?) p.(Phe397Ser) - VUS g.? - - - CYP2C9_001038 - PubMed: Heidet 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_3i c.(?_-119300)_(67+1_68-1)del r.0? p.0? - pathogenic (dominant) g.(?_88397644)_(88635843_88649818)del - ‐119300‐?_67+?del - BMPR1A_000106 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_13_ c.(?_-119300)_(*1469_?)del r.0 p.0 - pathogenic (dominant) g.(?_88397644)_(89728532_?)del - BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del - BMPR1A_000107 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.-1077T>C r.(?) p.(=) - likely benign g.88515867T>C g.86756110T>C BMPR1A(NM_004329.2):c.-1077T>C - BMPR1A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-1063G>C r.(?) p.(=) - benign g.88515881G>C g.86756124G>C BMPR1A(NM_004329.2):c.-1063G>C - BMPR1A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-978G>A r.(?) p.(=) - benign g.88515966G>A g.86756209G>A BMPR1A(NM_004329.2):c.-978G>A - BMPR1A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-934G>A r.(?) p.(=) - benign g.88516010G>A g.86756253G>A BMPR1A(NM_004329.2):c.-934G>A - BMPR1A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-876G>T r.(?) p.(=) - likely benign g.88516068G>T g.86756311G>T BMPR1A(NM_004329.2):c.-876G>T - BMPR1A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-854G>C r.(?) p.(=) - benign g.88516090G>C g.86756333G>C BMPR1A(NM_004329.2):c.-854G>C - BMPR1A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-785T>C r.(?) p.(=) - likely benign g.88516159T>C g.86756402T>C BMPR1A(NM_004329.2):c.-785T>C - BMPR1A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-774T>G r.(?) p.(=) - benign g.88516170T>G g.86756413T>G BMPR1A(NM_004329.2):c.-774T>G - BMPR1A_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-658C>T r.(?) p.(=) - likely benign g.88516286C>T g.86756529C>T BMPR1A(NM_004329.2):c.-658C>T - BMPR1A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.-602C>T r.(?) p.(=) - benign g.88516342C>T g.86756585C>T BMPR1A(NM_004329.2):c.-602C>T - BMPR1A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/+, ?/? 2 _1_1i c.(?_-548)_(-268+1_-267-1)del r.0? p.0? ACMG VUS g.(?_88516396)_(88516677_88598621)del - del promotor_first non-coding exon - BMPR1A_000108 ACMG PVS1, ACMG PVS1, PS2 Journal: Barros 2009, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - Karl Heinimann
+/+ 14 _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - - - Karl Heinimann
+/+, ?/+ 11 _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? ACMG pathogenic, VUS g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PM2, ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009, Journal: Cheah 2009 - - Germline - - - - - Karl Heinimann
+/+, ?/+, ?/? 16 _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 ACMG pathogenic, VUS g.(?_88516396)_(88684945_?)del - 1-?_1599del?, 10q23 deletion, 10q23del and 1p31.3del, 46,XX del(10)(q22.3q23.33)dn, 9 more items - BMPR1A_000111 ACMG PVS1, ACMG PVS1, PM2, ACMG PVS1, PM2, PS2, ACMG PVS1, PS2 Journal: Dadaleh 2012, Journal: Hiljadnikova Bajro 2013, Journal: Menko 2008, Journal: Ngeow 2013, 5 more items - - De novo, Germline, Germline/De novo (untested) - - - - - Karl Heinimann
-?/. 1 - c.-547C>T r.(?) p.(=) - likely benign g.88516397C>T g.86756640C>T BMPR1A(NM_004329.2):c.-547C>T - BMPR1A_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 2i_3i c.(-153+1_-152-1)_(67+1_68-1)del p.0? p.0? - pathogenic (dominant) g.(88598737_88635623)_(88635843_88649818)del - ‐50‐?_67+?del - BMPR1A_000112 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.-25A>G r.(=) p.(=) - benign g.88635751A>G g.86875994A>G - - BMPR1A_000007 - - - rs116346662 Germline - - - - - Andreas Laner
?/+ 3 3 c.-24_-14del r.(?) p.(?) ACMG VUS g.88635752_88635762del g.86875995_86876005del ex2 11 bp del - BMPR1A_000113 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - - - Karl Heinimann
+/+, ?/+ 5 1_13_, _1_13_ c.0 r.0 p.0 ACMG pathogenic, VUS (?_88450000)_(89750000_?)del, g.(82000001_87900000)_(99300001_101900000)del, 2 more items - 46,XX,del(10)(q23.1q24.2), >1.2Mb del BMPR1A/PTEN, del entire BMPR1a and PTEN genes, 1 more item 46,XY,der(9)t(9;10)(p24.1;q24.1), der(10)del(10)(q23.2q24.1)t(9;10)(p24.1;q23.2) BMPR1A_000105 ACMG PVS1, ACMG PVS1, PM2, ACMG PVS1, PS2 82000001_101900000, ACMG PVS1, PS2, 1 more item PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Delnatte 2006, 2 more items - - De novo, Germline - - - - - Karl Heinimann
?/+ 1 3 c.1A>C r.0? p.0? - VUS g.88635776A>C g.86876019A>C M1L - BMPR1A_000059 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - Global Variome, with Curator vacancy
+?/. 1 - c.3G>A r.(?) p.(Met1?) - likely pathogenic g.88635778G>A g.86876021G>A - - BMPR1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.4C>A r.(?) p.(Pro2Thr) - benign g.88635779C>A g.86876022C>A BMPR1A(NM_004329.2):c.4C>A (p.P2T) - BMPR1A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/+ 29 3 c.44_47del r.(?) p.(Leu15Serfs*20) ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT, 44_47delTGTT, 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3, ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, 3 more items - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/+ 1 3i c.67+1G>T r.spl p.? - VUS g.88635843G>T g.86876086G>T IVS1+1G>T - BMPR1A_000100 - PubMed: Sweet 2005, Journal: Sweet 2005 - - Germline - - - - - Global Variome, with Curator vacancy
+/., +?/. 2 - c.67+2T>C r.spl? p.? - likely pathogenic, pathogenic g.88635844T>C g.86876087T>C - - BMPR1A_000092 disruptive variant PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/+ 1 3i_4 c.68-10_68+14del r.? p.? ACMG VUS g.88649809_88649833del - - - BMPR1A_000114 1 more item PubMed: Nieminen 2011, Journal: Nieminen 2011 - - Germline - - - - - Karl Heinimann
+/+ 1 3i c.68-3C>G r.spl? p.? - pathogenic g.88649816C>G g.86890059C>G IVS1-3C>G - BMPR1A_000103 - PubMed: Zhou 2001, Journal: Zhou 2001 - - Germline/De novo (untested) - - - - - Global Variome, with Curator vacancy
+/+ 8 4 c.70C>T r.(?) p.(Gln24*) ACMG pathogenic g.88649821C>T g.86890064C>T - - BMPR1A_000061 ACMG PVS1, PM2, PM4, PP3 PubMed: O'Riordan 2010, Journal: O'Riordan 2010 - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
./. 1 - c.74A>G r.(?) p.(Asn25Ser) - VUS g.88649825A>G g.86890068A>G - - BMPR1A_000068 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
./. 1 - c.83G>A r.(?) p.(Ser28Asn) - VUS g.88649834G>A g.86890077G>A - - BMPR1A_000066 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
+/+ 5 4 c.127_137del r.(?) p.(Lys43Trpfs*24) ACMG pathogenic g.88649878_88649888del g.86890121_86890131del 127_137delAAGTCAGAAAA, ex2 11 bp del - BMPR1A_000062 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009, PubMed: Cao 2006, Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+ 1 4 c.131C>G r.(?) p.(Ser44*) - pathogenic g.88649882C>G g.86890125C>G S44X - BMPR1A_000058 - PubMed: Zhou 2001, Journal: Zhou 2001 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 12 4 c.170C>G r.(?) p.(Pro57Arg) ACMG VUS g.88649921C>G g.86890164C>G - - BMPR1A_000033 ACMG PM2, PP3 Journal: Lynch 2004, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/+ 1 4 c.176del r.(?) p.(Leu59*) ACMG VUS g.88649927del g.86890170del 176delT - BMPR1A_000115 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
?/? 5 4 c.184T>G r.(?) p.(Tyr62Asp) ACMG VUS g.88649935T>G g.86890178T>G - - BMPR1A_000034 ACMG PM2, PP3 Journal: Lynch 2004, PubMed: Howe 2004, Journal: Howe 2004, PubMed: Sayed 2002, Journal: Sayed 2002 - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/. 1 - c.189C>A r.(?) p.(Cys63Ter) - pathogenic g.88649940C>A g.86890183C>A - - BMPR1A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.198C>T r.(?) p.(His66=) - likely benign g.88649949C>T g.86890192C>T BMPR1A(NM_004329.2):c.198C>T (p.H66=) - BMPR1A_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 4 c.218dup r.(?) p.(Asn73Lysfs*2) ACMG pathogenic g.88649969dup g.86890212dup 218dupA - BMPR1A_000116 ACMG PVS1, PM2, PM4, PP3, PP5 Journal: Mongin 2012 - - Germline - - - - - Karl Heinimann
+/+ 1 4i_5i c.230+452_333+441dup r.? p.(Asp112Asnfs*2) ACMG pathogenic g.88650433_88652427dup g.86890676_86892670dup (230+452_333+441dup1995) - BMPR1A_000117 ACMG PVS1, PM2, PM4, PP3 Journal: Yamaguchi 2014 - - Germline/De novo (untested) - - - - - Karl Heinimann
?/. 1 - c.231-1G>A r.spl p.? - pathogenic g.88651883G>A g.86892126G>A - - BMPR1A_000166 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - - - Johan den Dunnen
?/? 6 5 c.233C>T r.(?) p.(Thr78Ile) ACMG VUS g.88651886C>T g.86892129C>T missense C to T (T78I) mutation at codon 233 - BMPR1A_000035 ACMG PM2, PP1-M, PP3, ACMG PM2, PP3 Journal: Kurland 2007, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+ 1 5 c.238G>A r.(?) p.(Gly80Arg) - pathogenic g.88651891G>A g.86892134G>A - - BMPR1A_000036 - PubMed: Aretz 2007 - - Germline - - - - - Global Variome, with Curator vacancy
?/? 3 5 c.245G>A r.(?) p.(Cys82Tyr) ACMG VUS g.88651898G>A g.86892141G>A - - BMPR1A_000037 ACMG PM2, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2004, Journal: Howe 2004, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
-?/. 1 - c.246C>T r.(?) p.(Cys82=) - likely benign g.88651899C>T g.86892142C>T - - BMPR1A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 5 5 c.262G>T r.(?) p.(Glu88*) ACMG VUS g.88651915G>T g.86892158G>T - - BMPR1A_000038 ACMG PVS1, PM2, PM4, PP3, ACMG PVS1, PM2, PM4, PP3, PP5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2004, Journal: Howe 2004, 1 more item - rs730881431 Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/? 14 5 c.264_266del r.(?) p.(Glu88del) ACMG VUS g.88651917_88651919del g.86892160_86892162del 264_266delAGA - BMPR1A_000039 ACMG PP1, PP3, PM2 PubMed: Nieminen 2011, Journal: Nieminen 2011 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Karl Heinimann
+/. 1 - c.271C>T r.(?) p.(Gln91*) - pathogenic g.88651924C>T g.86892167C>T - - BMPR1A_000095 disruptive variant PubMed: Baert-Desurmont 2018 - - Germline - - - - - Stephanie Baert-Desurmont
?/. 1 - c.299G>A r.(?) p.(Cys100Tyr) - VUS g.88651952G>A g.86892195G>A - - BMPR1A_000006 PolyPhen: prob. damaging-PSIC score 1,2; - - - Germline - - - - - Andreas Laner
?/? 1 5i c.333+5G>C r.333_334ins[GTAAC;333+6_333_97] p.? - VUS g.88651991G>C g.86892234G>C IVS3+5G>C - BMPR1A_000101 - PubMed: Sweet 2005, Journal: Sweet 2005 - - Germline - - - - - Global Variome, with Curator vacancy
+/., ?/+ 4 4, 6 c.349C>T r.(?) p.(Gln117*) ACMG pathogenic (dominant), VUS g.88659566C>T g.86899809C>T - - BMPR1A_000040 ACMG PVS1, PM2, PM4, PP3 PubMed: Aretz 2007, PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, 2 more items - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Karl Heinimann
?/+ 1 6 c.351dup r.(?) p.(Leu118Alafs*14) ACMG VUS g.88659568dup g.86899811dup 351-352insG - BMPR1A_000041 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - Global Variome, with Curator vacancy
?/+ 3 6 c.353del r.(?) p.(Leu118Hisfs*5) ACMG VUS g.88659570del g.86899813del 353delT - BMPR1A_000042 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2004, Journal: Howe 2004, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
+/+, ?/. 2 6 c.355C>T r.(?) p.(Arg119Cys) - pathogenic, VUS g.88659572C>T g.86899815C>T - - BMPR1A_000008 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Aretz 2007, PubMed: Narang 2020, Journal: Narang 2020 - rs587782494 Germline - 1/2795 individuals - - - Global Variome, with Curator vacancy, Mohammed Faruq
?/? 1 6 c.359G>C r.(?) p.(Arg120Pro) ACMG VUS g.88659576G>C g.86899819G>C - - BMPR1A_000118 ACMG PP3, PM2 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
+/+ 1 6 c.370T>C r.(?) p.(Cys124Arg) - pathogenic g.88659587T>C g.86899830T>C C124R - BMPR1A_000009 - PubMed: Zhou 2001, Journal: Zhou 2001 - rs199476087 Germline/De novo (untested) - - - - - Global Variome, with Curator vacancy
?/? 1 6 c.373T>G r.(?) p.(Cys125Gly) ACMG VUS g.88659590T>G g.86899833T>G - - BMPR1A_000119 ACMG PP3, PM2 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
?/? 1 6 c.385T>A r.(?) p.(Leu129Ile) ACMG VUS g.88659602T>A g.86899845T>A - - BMPR1A_000120 ACMG PM2, BP4 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
+/+, +/. 2 4, 6 c.388T>C r.(?) p.(Cys130Arg) - pathogenic, pathogenic (dominant) g.88659605T>C g.86899848T>C - - BMPR1A_000010 - PubMed: Aretz 2007, PubMed: Friedl 2002 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen
?/+ 1 6 c.405dup r.(?) p.(Pro136Thrfs*13) ACMG VUS g.88659622dup g.86899865dup 405-406insA - BMPR1A_000011 ACMG PVS1, PM2, PM4, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - Global Variome, with Curator vacancy
?/. 1 - c.419C>T r.(?) p.(Pro140Leu) - VUS g.88659636C>T g.86899879C>T BMPR1A(NM_004329.2):c.419C>T (p.P140L) - BMPR1A_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 6 c.419_420del r.(?) p.(Pro140Argfs*8) - pathogenic (dominant) g.88659636_88659637del g.86899879_86899880del 419_420delCT - BMPR1A_000012 - PubMed: Aretz 2007 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 - c.430+2T>C r.spl p.? - pathogenic (dominant) g.88659649T>C g.86899892T>C - - BMPR1A_000097 - PubMed: Aretz 2007 - - De novo - - - - - Global Variome, with Curator vacancy
?/. 1 - c.430+5G>A r.spl? p.? - VUS g.88659652G>A g.86899895G>A - - BMPR1A_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 4i c.431-66_431-2del r.spl p.? - pathogenic (dominant) g.88659718_88659782del g.86899961_86900025del 432‐2_‐66del - BMPR1A_000121 - PubMed: Aretz 2007 - - Germline - - - - - Johan den Dunnen
-/. 2 - c.431-26T>A r.(=) p.(=) - benign g.88659758T>A g.86900001T>A - - BMPR1A_000002 Destroys an annotated disulfitbrigde!, VKGL data sharing initiative Nederland - - rs7920259 CLASSIFICATION record, Germline - Frequency up to 35% - - - Andreas Laner, VKGL-NL_Nijmegen
+/. 1 - c.431-2A>C r.spl? p.? - pathogenic g.88659782A>C g.86900025A>C - - BMPR1A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 6i c.431-1G>A r.spl p.? ACMG VUS g.88659783G>A g.86900026G>A IVS4-1G>A - BMPR1A_000099 ACMG PVS1, PM2, PP3 PubMed: Pyatt 2006, Journal: Pyatt 2006 - - Germline - - - - - Global Variome, with Curator vacancy
-/. 4 - c.435G>A r.(?) p.(Pro145=) - benign g.88659788G>A g.86900031G>A BMPR1A(NM_004329.2):c.435G>A (p.P145=) - BMPR1A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 2 7 c.499A>G r.(?) p.(Met167Val) ACMG VUS g.88659852A>G g.86900095A>G - - BMPR1A_000088 1 more item - - rs200951235 Germline, Unknown - - - - - Andreas Laner, M Walsh
-/? 1 7 c.524G>A r.(?) p.(Cys175Tyr) ACMG benign g.88659877G>A g.86900120G>A - - BMPR1A_000122 ACMG PP3, BP6 Journal: Jelsig 2016 - - Germline - - - - - Karl Heinimann
+/. 1 - c.524_525dup r.(?) p.(Tyr176Valfs*32) - pathogenic g.88659877_88659878dup g.86900120_86900121dup - - BMPR1A_000003 - - - - Germline - - - - - Andreas Laner
?/+ 1 7 c.528G>A r.(?) p.(Tyr176*) ACMG VUS g.88659881G>A - - - BMPR1A_000123 1 more item Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
-/. 1 - c.531-59T>C r.(=) p.(=) - benign g.88671938T>C g.86912181T>C - - BMPR1A_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.531-51G>A r.(=) p.(=) - likely benign g.88671946G>A g.86912189G>A - - BMPR1A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.531-22T>C r.(=) p.(=) - likely benign g.88671975T>C g.86912218T>C - - BMPR1A_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 7i c.531-2A>G r.spl p.? ACMG VUS g.88671995A>G g.86912238A>G - - BMPR1A_000102 ACMG PM2, PP3 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - Germline - - - - - Global Variome, with Curator vacancy
+/+ 1 7i c.531-1G>T r.spl p.? - pathogenic g.88671996G>T g.86912239G>T IVS5-1G>T - BMPR1A_000104 - PubMed: Zhou 2001, Journal: Zhou 2001 - - Germline/De novo (untested) - - - - - Global Variome, with Curator vacancy
?/+ 2 7i_13_ c.(530+1_531-1)_(*1469_?)del r.? p.? ACMG VUS g.(88659884_88671996)_(88684945_?)del - 531-?_1599+?del - BMPR1A_000124 ACMG PVS1, PM2 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
./. 1 - c.562C>T r.(?) p.(Arg188Cys) - VUS g.88672028C>T g.86912271C>T - - BMPR1A_000067 - Thibodeau lab (Mayo Clinic) - - Germline - - - - - Melissa DeRycke
-?/. 1 - c.563G>A r.(?) p.(Arg188His) - likely benign g.88672029G>A - - - BMPR1A_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/+ 1 8 c.567C>A r.(?) p.(Tyr189*) ACMG VUS g.88672033C>A g.86912276C>A - - BMPR1A_000013 ACMG PVS1, PM2, PM4, PP3 PubMed: Handra-Luca 2005, Journal: Handra-Luca 2005 - - Germline - - - - - Global Variome, with Curator vacancy
+/+, +/. 2 6, 8 c.583C>T r.(?) p.(Gln195*) - pathogenic, pathogenic (dominant) g.88672049C>T g.86912292C>T - - BMPR1A_000014 - PubMed: Aretz 2007, PubMed: Friedl 2002 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen
?/. 1 - c.629T>C r.(?) p.(Ile210Thr) - VUS g.88672095T>C g.86912338T>C BMPR1A(NM_004329.2):c.629T>C (p.I210T) - BMPR1A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 8 c.665dup r.(?) p.(Pro223Thrfs*20) - pathogenic g.88672131dup g.86912374dup 665insT - BMPR1A_000015 - PubMed: Zhou 2001, Journal: Zhou 2001 - - Germline - - - - - Global Variome, with Curator vacancy
?/+ 3 8 c.674del r.(?) p.(Leu225Trpfs*36) ACMG VUS g.88672140del g.86912383del 673delT, 674delT - BMPR1A_000016 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2004, Journal: Howe 2004, 1 more item - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
-/. 3 - c.675+12G>A r.(=) p.(=) - benign g.88672153G>A g.86912396G>A BMPR1A(NM_004329.2):c.675+12G>A - BMPR1A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.675+17T>C r.(=) p.(=) - likely benign g.88672158T>C - - - BMPR1A_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/., ?/+ 4 7, 9 c.682C>T r.(?) p.(Arg228*) ACMG pathogenic, pathogenic (dominant), VUS g.88676897C>T g.86917140C>T - - BMPR1A_000017, BMPR1A_000094 ACMG PVS1, PM2, PM4, PP3, disruptive variant Journal: Ngeow 2013, PubMed: Aretz 2007, PubMed: Baert-Desurmont 2018, PubMed: Friedl 2002 - - Germline - - - - - Global Variome, with Curator vacancy, Johan den Dunnen, Karl Heinimann, Stephanie Baert-Desurmont
?/+ 1 9 c.697C>T r.(?) p.(Gln233*) ACMG VUS g.88676912C>T g.86917155C>T - - BMPR1A_000125 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
?/+ 25 9 c.715C>T r.(?) p.(Gln239*) ACMG VUS g.88676930C>T g.86917173C>T - - BMPR1A_000018 ACMG PVS1, PM2, PM4, PP1, PP3, ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2001, Journal: Howe 2001, 2 more items - rs199476084 Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/. 1 - c.718G>A r.(?) p.Val240Ile ACMG VUS g.88676933G>A g.86917176G>A - - BMPR1A_000157 ACMG grading: PM2 - - - Germline - - - - - Andreas Laner
+/., ?/. 2 - c.730C>T r.(?) p.(Arg244*), p.(Arg244Ter) - pathogenic g.88676945C>T g.86917188C>T - - BMPR1A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - James Whitworth, VKGL-NL_Nijmegen
?/+ 7 9 c.735_736delinsAT r.(?) p.(Tyr245*) ACMG VUS g.88676950_88676951delinsAT g.86917193_86917194delinsAT 732-6 TG>AT, 733-6 TG>AT, 734-6 TG>AT, 735-6 TG>AT, 735T>A;736G>T - BMPR1A_000019 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009, PubMed: Howe 2008, Journal: Howe 2008 - - Germline - - - - - Global Variome, with Curator vacancy, Karl Heinimann
?/? 1 9 c.761G>A r.(?) p.(Arg254His) - VUS g.88676976G>A g.86917219G>A - - BMPR1A_000020 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - - - Global Variome, with Curator vacancy
?/+ 1 9 c.769A>T r.(?) p.(Lys257*) ACMG VUS g.88676984A>T g.86917227A>T - - BMPR1A_000126 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - - - Karl Heinimann
-?/. 1 - c.777G>A r.(?) p.(Ala259=) - likely benign g.88676992G>A g.86917235G>A BMPR1A(NM_004329.2):c.777G>A (p.A259=) - BMPR1A_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/+ 1 9 c.784_805del r.(?) p.(Val262Profs*14) ACMG VUS g.88676999_88677020del g.86917242_86917263del 784-805del22 - BMPR1A_000127 ACMG PVS1, PM2, PM4 Journal: Zhou 2001 - - Germline/De novo (untested) - - - - - Karl Heinimann
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