Full data view for gene BMPR1A

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

29 entries on 1 page. Showing entries 1 - 29.
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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     
?/+ 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
?/+ 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 JPS 5659 Journal: Ngeow 2013 - - - (United States) (American) - 0 - - 1 Karl Heinimann
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