Full data view for gene BMP2

Information The variants shown are described using the NM_001200.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.= Paternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAGMET101PatIII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 3-generation family, 1 affected, unaffected heterozygous carrier mother (de novo) M - - - - - - - 2 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAGMET104-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 2 affected, unaffected heterozygous carrier father M - - - - - - - 3 Johan den Dunnen
?/. - c.= r.= p.= Unknown - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAGMET100-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 3-generation family, 2 affected, unaffected heterozygous carrier sister F - - - - - - - 3 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAG2220-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 2 affected, unaffected heterozygous carrier father M - - - - - - - 2 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAG210-1PatIII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 3-generation family, 1 affected, unaffected heterozygous carrier father/grandmother F - - - - - - - 3 Johan den Dunnen
?/. - c.= r.= p.= Both (homozygous) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAG158-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 2 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 digenic inheritance, 2nd variant? PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET179-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - - - - 2 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET127-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 1 affected, unaffected heterozygous carrier father/sister F - - - - - - - 3 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET148-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 1 affected, unaffected heterozygous carrier father/sister M - - - - - - - 2 Johan den Dunnen
-/. - c.= r.= p.= Maternal (confirmed) - benign g.7106289= g.7125642= - - BMP2_000007 digenic inheritance, 2nd variant? PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET153-1PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET154-1PatII1/2 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, affected twin pair, unaffected heterozygous carrier father M - - - - - - - 3 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET111-1PatII1/2 PubMed: Timberlake 2016, Journal: Timberlake 2016 2-generation family, affected twin pair, unaffected heterozygous carrier parents M - - - - - - - 2 Johan den Dunnen
?/. - c.= r.= p.= Maternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS MET115-1PatIII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 3-generation family, 1 affected, unaffected heterozygous carrier father/grandfather M - - - - - - - 3 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAGMET101PatII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier mother F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAGMET104-1PatI2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 digenic inheritance, 2nd variant? PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAGMET104-1PatII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 brother M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAGMET100-1PatII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier sister F - - - - - - - 1 Johan den Dunnen
?/. - c.= r.= p.= Paternal (confirmed) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 digenic inheritance PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - WES CRS SAGMET100-1PatIII1 PubMed: Timberlake 2016, Journal: Timberlake 2016 nephew M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAG2220-1PatI2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAG210-1PatII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control SAG210-1PatI1 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier grandmother F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET179-1PatI1 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier mother F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET127-1PatI2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET127-1PatII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier sister F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET148-1PatI2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET154-1PatI1 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET115-1PatII2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier father M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Unknown - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2016, Journal: Timberlake 2016 - rs1884302 Germline - - - - - DNA SEQ - - Healthy/Control MET115-1PatI2 PubMed: Timberlake 2016, Journal: Timberlake 2016 unaffected carrier grandfather M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2018 - rs1884302 Germline - - - - - DNA SEQ, SEQ-NG - - CRS Fam18PatII2/FamPat1 PubMed: Timberlake 2017, PubMed: Timberlake 2018 2-generation family, 1 affected, unaffected parents F no United States - - - - - 2 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam14PatI1 PubMed: Timberlake 2017 2-generation family, 1 affected F - - - - - - - 3 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CRS Fam14PatII1 PubMed: Timberlake 2017 - M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam14PatII2 PubMed: Timberlake 2017 sister F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam15PatI1 PubMed: Timberlake 2017 3-generation family, 1 affected F - - - - - - - 4 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam15PatII1 PubMed: Timberlake 2017 daughter F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CRS Fam15PatIII1 PubMed: Timberlake 2017 grandson M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam15PatIII2 PubMed: Timberlake 2017 granddaughter F - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CRS Fam16PatII1 PubMed: Timberlake 2017 2-generation family, 1 affected M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam17PatI2 PubMed: Timberlake 2017 3-generation family, 1 affected M - - - - - - - 3 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam17PatII2 PubMed: Timberlake 2017 son M - - - - - - - 1 Johan den Dunnen
?/. - c.= r.= p.= Both (homozygous) - VUS (!) g.7106289T>C g.7125642T>C - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CRS Fam17PatIII2 PubMed: Timberlake 2017 grandson M - - - - - - - 1 Johan den Dunnen
-/. - c.= r.= p.= Both (homozygous) - benign g.7106289= g.7125642= - - BMP2_000007 - PubMed: Timberlake 2017 - - Germline - - - - - DNA SEQ - - Healthy/Control Fam18PatI2 PubMed: Timberlake 2017 father M - - - - - - - 1 Johan den Dunnen
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