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Gene: BMPR2 & Disease: Pulmonary Arterial Hypertension Associated with Congenital Heart Disease, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
409828	BMPR2	c.1509A>C	p.Glu503Asp (p.E503D)	NM_001204.7 M	SNV	P	4 +	5
425911	BMPR2	c.1276+1G>A	--	NM_001204.7 M	SNV	P	2 +	2
548686	BMPR2	c.529+1G>A	--	NM_001204.7 M	SNV	P	4 +	2
548687	BMPR2	c.2353G>A	p.Glu785Lys (p.E785K)	NM_001204.7 M	SNV	LB	3 +	1
548926	BMPR2	c.1271_1277delinsAGA	p.Phe424_Gly426delinsTer	NM_001204.7 M	Indel	LP	1 +	1
1339401	BMPR2	c.1175T>A	p.Val392Glu (p.V392E)	NM_001204.7 M	SNV	VUS	3 +	1
425805	BMPR2	c.556A>G	p.Met186Val (p.M186V)	NM_001204.7 M	SNV	P	1 +	1
548685	BMPR2	c.419-38del	--	NM_001204.7 M	Del	LB	2 +	1
425756	BMPR2	c.304A>G	p.Thr102Ala (p.T102A)	NM_001204.7 M	SNV	P	1 +	1
425757	BMPR2	c.319T>C	p.Ser107Pro (p.S107P)	NM_001204.7 M	SNV	P	1 +	1
548688	BMPR2	c.211G>A	p.Glu71Lys (p.E71K)	NM_001204.7 M	SNV	VUS	1 +	1
425707	BMPR2	c.140G>A	p.Gly47Asp (p.G47D)	NM_001204.7 M	SNV	P	1 +	1
425706	BMPR2	c.125A>G	p.Gln42Arg (p.Q42R)	NM_001204.7 M	SNV	P	1 +	1

13 Results, 20 per Page

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