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Gene: BMPR1B & Disease: BDA2, 528 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2171652	BMPR1B	c.247-3T>C	--	NM_001203.3 M	SNV	VUS	3 +	2
906582	BMPR1B	c.11G>A	p.Arg4Gln (p.R4Q)	NM_001203.3 M	SNV	LB	5 +	2
2171652	BMPR1B	c.247-3T>C	--	NM_001256792.2	SNV	VUS	3 +	2
	BMPR1B	c.337-3T>C	--	NM_001256793.2	SNV	VUS	3 +	2
	BMPR1B	c.247-3T>C	--	NM_001256794.1	SNV	VUS	3 +	2
906582	BMPR1B	c.11G>A	p.Arg4Gln (p.R4Q)	NM_001256792.2	SNV	LB	5 +	2
	BMPR1B	c.101G>A	p.Arg34Gln (p.R34Q)	NM_001256793.2	SNV	LB	5 +	2
	BMPR1B	c.11G>A	p.Arg4Gln (p.R4Q)	NM_001256794.1	SNV	LB	5 +	2
653555	BMPR1B	c.726C>G	p.Phe242Leu (p.F242L)	NM_001203.3 M	SNV	VUS	3 +	1
1950070	BMPR1B	c.1171C>T	p.His391Tyr (p.H391Y)	NM_001203.3 M	SNV	VUS	3 +	1
6555	BMPR1B	c.599T>A	p.Ile200Lys (p.I200K)	NM_001203.3 M	SNV	P	1 +	1
6558	BMPR1B	c.1457G>A	p.Arg486Gln (p.R486Q)	NM_001203.3 M	SNV	P	1 +	1
6556	BMPR1B	c.1456C>T	p.Arg486Trp (p.R486W)	NM_001203.3 M	SNV	P	1 +	1
2230970	BMPR1B	c.1396A>T	p.Met466Leu (p.M466L)	NM_001203.3 M	SNV	VUS	3 +	1
2048766	BMPR1B	c.1394A>G	p.Gln465Arg (p.Q465R)	NM_001203.3 M	SNV	LB	3 +	1
1598293	BMPR1B	c.1035T>A	p.Thr345= (p.T345=)	NM_001203.3 M	SNV	LB	3 +	1
1617147	BMPR1B	c.778+17A>G	--	NM_001203.3 M	SNV	LB	3 +	1
1357550	BMPR1B	c.892G>A	p.Ala298Thr (p.A298T)	NM_001203.3 M	SNV	LB	3 +	1
653555	BMPR1B	c.726C>G	p.Phe242Leu (p.F242L)	NM_001256792.2	SNV	VUS	3 +	1
653555	BMPR1B	c.816C>G	p.Phe272Leu (p.F272L)	NM_001256793.2	SNV	VUS	3 +	1

528 Results, 20 per Page

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