Full data view for gene BMPR1A

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

412 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.? r.(?) p.(Phe397Ser) Unknown - VUS g.? - - - CYP2C9_001038 - PubMed: Heidet 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K100 PubMed: Heidet 2017 - - - France - - 0 - - 1 Johan den Dunnen
+/. _1_3i c.(?_-119300)_(67+1_68-1)del r.0? p.0? Unknown - pathogenic (dominant) g.(?_88397644)_(88635843_88649818)del - ‐119300‐?_67+?del - BMPR1A_000106 - PubMed: Aretz 2007 - - Germline - - - 0 - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat38 PubMed: Aretz 2007 - - - - Germany - 0 - - 1 Johan den Dunnen
+/. _1_13_ c.(?_-119300)_(*1469_?)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_88397644)_(89728532_?)del - BMPR1A,‐119300‐?_1599+?del + PTEN,1‐?_1212+?del - BMPR1A_000107 - PubMed: Aretz 2007 - - Germline - - - 0 - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat26 PubMed: Aretz 2007 - - - - Germany - 0 - - 1 Johan den Dunnen
-?/. - c.-1077T>C r.(?) p.(=) Unknown - likely benign g.88515867T>C g.86756110T>C BMPR1A(NM_004329.2):c.-1077T>C - BMPR1A_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1063G>C r.(?) p.(=) Unknown - benign g.88515881G>C g.86756124G>C BMPR1A(NM_004329.2):c.-1063G>C - BMPR1A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-978G>A r.(?) p.(=) Unknown - benign g.88515966G>A g.86756209G>A BMPR1A(NM_004329.2):c.-978G>A - BMPR1A_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-934G>A r.(?) p.(=) Unknown - benign g.88516010G>A g.86756253G>A BMPR1A(NM_004329.2):c.-934G>A - BMPR1A_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-876G>T r.(?) p.(=) Unknown - likely benign g.88516068G>T g.86756311G>T BMPR1A(NM_004329.2):c.-876G>T - BMPR1A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-854G>C r.(?) p.(=) Unknown - benign g.88516090G>C g.86756333G>C BMPR1A(NM_004329.2):c.-854G>C - BMPR1A_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-785T>C r.(?) p.(=) Unknown - likely benign g.88516159T>C g.86756402T>C BMPR1A(NM_004329.2):c.-785T>C - BMPR1A_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-774T>G r.(?) p.(=) Unknown - benign g.88516170T>G g.86756413T>G BMPR1A(NM_004329.2):c.-774T>G - BMPR1A_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-658C>T r.(?) p.(=) Unknown - likely benign g.88516286C>T g.86756529C>T BMPR1A(NM_004329.2):c.-658C>T - BMPR1A_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-602C>T r.(?) p.(=) Unknown - benign g.88516342C>T g.86756585C>T BMPR1A(NM_004329.2):c.-602C>T - BMPR1A_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? _1_1i c.(?_-548)_(-268+1_-267-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88516677_88598621)del - del promotor_first non-coding exon - BMPR1A_000108 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA MLPA - screening JPS proband 3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_1i c.(?_-548)_(-268+1_-267-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88516677_88598621)del - del promotor_first non-coding exon - BMPR1A_000108 ACMG PVS1, PS2 Journal: Barros 2009 - - Germline - - - 0 - DNA SEQ - - JPS patient Journal: Barros 2009 - - - (Portugal) (European) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 219 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 222 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 202 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 203 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 213 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 302 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 320 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 330 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 340 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA MLPA - screening JPS 350 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 901 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 920 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 906 Journal: Calva-Cerqueira 2010 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_2i c.(?_-548)_(-153+1_-152-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88598737_88635623)del - del promotor B_ex2 - BMPR1A_000109 ACMG PVS1, PP1-S Journal: Calva-Cerqueira 2010 - - Germline - - - 0 - DNA SEQ - - JPS 915 Journal: Calva-Cerqueira 2010 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat2 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 10 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat3 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat5 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat7 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat9 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat11 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat19 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat21 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat22 Journal: Cao 2006, Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
+/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG pathogenic g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PP1-S, PM2 Journal: Cao 2006, Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA - screening HMPS2 Fam1Pat30 Journal: Cao 2006, Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/+ _1_3i c.(?_-548)_(67+1_68-1)del r.0? p.0? Unknown ACMG VUS g.(?_88516396)_(88635843_88649818)del - 5'UTR - Exon 1 del - BMPR1A_000110 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - 0 - DNA MLPA, PCRlr - - HMPS2 1 Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/? _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - hemizygous deletion - BMPR1A_000111 ACMG PVS1 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - Germline - - - 0 - DNA MLPA - screening JPS 18 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - 1 Karl Heinimann
?/? _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - hemizygous deletion - BMPR1A_000111 ACMG PVS1 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - Germline - - - 0 - DNA MLPA - screening JPS 24 PubMed: van Hattem 2008, Journal: van Hattem 2008 - - - (Netherlands) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XY,del(10)(q23.2q24.1) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline - - - 0 - DNA microscope - screening JPS 3 Journal: Dadaleh 2012 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline/De novo (untested) - - - 0 - DNA DGGE, FISH, PCRlr - screening BRRS patient 1 Journal: Dadaleh 2012 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - Germline - - - 0 - DNA FISH, PCRlr - screening JPS patient 2 Journal: Dadaleh 2012 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.3) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Dadaleh 2012 - - De novo - - - 0 - DNA FISH, PCRlr - screening JPS patient 3 Journal: Dadaleh 2012 - M - (France) (European) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 10q23 deletion - BMPR1A_000111 ACMG PVS1, PM2 Journal: Hiljadnikova Bajro 2013 - - Germline/De novo (untested) - - - 0 - DNA arrayCGH, microscope - screening JPS patient Journal: Hiljadnikova Bajro 2013 - M - (Macedonia) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG pathogenic g.(?_88516396)_(88684945_?)del - del(10)(q.22.3q.24.1) - BMPR1A_000111 ACMG PVS1, PM2 {DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W} - - De novo - - - 0 - DNA microscope - screening JPS patient {DOI:Jacoby 1997:10.1002/(SICI)1096-8628(19970627)70:4<361::AID-AJMG6>3.0.CO;2-W} - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - De novo - - - 0 - DNA arraySNP, FISH, SEQ, MLPA - screening JPS case 1 Journal: Menko 2008 - M - - maroccan - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q24.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - Germline - - - 0 - DNA arraySNP, MLPA - screening JPS case 2 Journal: Menko 2008 - M - - turkish iranian - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XX.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - De novo - - - 0 - DNA arraySNP, MLPA - screening JPS case 3 Journal: Menko 2008 - F - Belgium European - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XY.ish del(10)(q23.2q23.31) - BMPR1A_000111 ACMG PVS1, PS2 Journal: Menko 2008 - - Germline - - - 0 - DNA arraySNP, MLPA - screening JPS case 4 Journal: Menko 2008 - M - - - - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 1-?_1599del? - BMPR1A_000111 ACMG PVS1, PM2 Journal: Ngeow 2013 - - Germline - - - 0 - DNA MLPA - screening JPS 5062 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 46,XX del(10)(q22.3q23.33)dn - BMPR1A_000111 ACMG PVS1, PM2, PS2 Journal: Salviati 2006 - - De novo - - - 0 - DNA microscope, FISH - screening JPS patient Journal: Salviati 2006 - F - (Italy) (European) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - 10q23del and 1p31.3del - BMPR1A_000111 ACMG PVS1, PM2 Journal: Septer 2013 - - Germline - - - 0 - DNA microscope - screening JPS patient Journal: Septer 2013 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.(?_-548)_(*1469_?)del r.0 p.0 Unknown ACMG VUS g.(?_88516396)_(88684945_?)del - del(10)(q23.2q23.33) - BMPR1A_000111 ACMG PVS1, PM2 {DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3} - - Germline/De novo (untested) - - - 0 - DNA microscope - screening ? patient {DOI:Tsuchiya 1998:10.1002/(sici)1098-2264(199802)21:2<113::aid-gcc6>3.0.co;2-3} - M - (United States) african-American - 0 - - 1 Karl Heinimann
-?/. - c.-547C>T r.(?) p.(=) Unknown - likely benign g.88516397C>T g.86756640C>T BMPR1A(NM_004329.2):c.-547C>T - BMPR1A_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3i c.(-153+1_-152-1)_(67+1_68-1)del p.0? p.0? Unknown - pathogenic (dominant) g.(88598737_88635623)_(88635843_88649818)del - ‐50‐?_67+?del - BMPR1A_000112 - PubMed: Aretz 2007 - - Germline - - - 0 - DNA SEQ, MLPA - target gene panel (SMAD4, BMPR1A, PTEN, CDH1) JPS 17873119-Pat22 PubMed: Aretz 2007 - - - - Germany - 0 - - 1 Johan den Dunnen
-/. - c.-25A>G r.(=) p.(=) Parent #1 - benign g.88635751A>G g.86875994A>G - - BMPR1A_000007 - - - rs116346662 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/+ 3 c.-24_-14del r.(?) p.(?) Unknown ACMG VUS g.88635752_88635762del g.86875995_86876005del ex2 11 bp del - BMPR1A_000113 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - 0 - DNA PCR - screening HMPS2 12 Journal: Cheah 2009 - F - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/+ 3 c.-24_-14del r.(?) p.(?) Unknown ACMG VUS g.88635752_88635762del g.86875995_86876005del ex2 11 bp del - BMPR1A_000113 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - 0 - DNA PCR - - HMPS2 5 Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/+ 3 c.-24_-14del r.(?) p.(?) Unknown ACMG VUS g.88635752_88635762del g.86875995_86876005del ex2 11 bp del - BMPR1A_000113 ACMG PVS1, PM2 Journal: Cheah 2009 - - Germline - - - 0 - DNA PCR - - HMPS2 9 Journal: Cheah 2009 - M - Singapore (Asian) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.0 r.0 p.0 Unknown ACMG VUS g.(?_88490000_89750000_?)del - del entire BMPR1a and PTEN genes - BMPR1A_000105 ACMG PVS1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA MLPA - screening JPS proband 4 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ _1_13_ c.0 r.0 p.0 Unknown ACMG VUS g.(?_88490000_89750000_?)del - hemizygous del BMPR1A and PTEN - BMPR1A_000105 ACMG PVS1, PM2 PubMed: Sweet 2005, Journal: Sweet 2005 - - Germline - - - 0 - DNA PCR, DGGE, PCRm, DHPLC - screening JPS Group 1/B PubMed: Sweet 2005, Journal: Sweet 2005 - F - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ 1_13_ c.0 r.0 p.0 Unknown - pathogenic (?_88450000)_(89750000_?)del - >1.2Mb del BMPR1A/PTEN - BMPR1A_000105 patient also carries 46,XX,t(2;10)(q31;p15) (?_88450000)_(89750000_?)del PubMed: Delnatte 2006 - - Germline - - - 0 - DNA FISH, PCRlr - screening JPS 16685657-Pat4 PubMed: Delnatte 2006 - F - (France) (European) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.0 r.0 p.0 Unknown ACMG pathogenic g.(97000001_99300000)_qterdelins[NC_000009.11:pter_(4600001_9000000)inv] - - 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, PS2 PubMed: Zigman 1997 - - De novo - - - 0 - DNA microscope - screening BRRS 09352843-Pat1 PubMed: Zigman 1997 - M - (United States) (American) - 0 - - 1 Karl Heinimann
+/+ _1_13_ c.0 r.0 p.0 Unknown ACMG pathogenic g.(82000001_87900000)_(99300001_101900000)del - 46,XX,del(10)(q23.1q24.2) - BMPR1A_000105 ACMG PVS1, PS2 82000001_101900000 PubMed: Zigman 1997 - - De novo - - - 0 - DNA microscope - screening JPS 09352843-Pat2 PubMed: Zigman 1997 - F - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.1A>C r.0? p.0? Unknown - VUS g.88635776A>C g.86876019A>C M1L - BMPR1A_000059 - PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP91-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Global Variome, with Curator vacancy
+?/. - c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.88635778G>A g.86876021G>A - - BMPR1A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4C>A r.(?) p.(Pro2Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4C>A r.(?) p.(Pro2Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4C>A r.(?) p.(Pro2Thr) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D2 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - 8 Global Variome, with Curator vacancy
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-1 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 9 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-2 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-4 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-5 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-6 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-7 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-8 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_7delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - Germline - - - 0 - DNA PCR, SEQ - screening JPS JP10-9 PubMed: Calva-Cerqueira 2009, Journal: Calva-Cerqueira 2009 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D3 PubMed: Howe 2001, Journal: Howe 2001 - F - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D4 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D6 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D8 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D11 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D13 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP1, PP3 PubMed: Howe 2001, Journal: Howe 2001 - - Germline - - - 0 - DNA PCR, SEQ - test JPS D15 PubMed: Howe 2001, Journal: Howe 2001 - M - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-1 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-2 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-3 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-4 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-5 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-6 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-7 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-8 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Howe 2004, Journal: Howe 2004 - - Germline - - - 0 - DNA PCR, SEQ - - JPS JP17-9 PubMed: Howe 2004, Journal: Howe 2004 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44-47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 PubMed: Sayed 2002, Journal: Sayed 2002 - - Germline - - - 0 - DNA PCR - screening JPS JP16 PubMed: Sayed 2002, Journal: Sayed 2002 - - - (United States) (American) - 0 - - 1 Karl Heinimann
?/+ 3 c.44_47del r.(?) p.(Leu15Serfs*20) Unknown ACMG VUS g.88635819_88635822del g.86876062_86876065del 44_47delTGTT - BMPR1A_000060 ACMG PVS1, PM2, PM4, PP3 Journal: Ngeow 2013 - - Germline - - - 0 - DNA SEQ - screening ? 5656 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
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