The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis

Table 2 Pathogenic and likely pathogenic variants of IPAH/HPAH genes

Pts No	Gene	Chr	Pos	Id	Ref	Alt	TYPE	HGVSc	HGVSp	ACMG	HGMD	ClinVar
1,2	BMPR2	2	202467648	rs863223426	A	G	Missense variant	c.377A > G	p.Asn126Ser	LP	DM	P/LP
3	BMPR2	2	202520195	rs1060502581	C	T	Stop gained	c.961C > T	p.Arg321Ter	P	DM	P
4	BMPR2	2	202530820	rs137852751	C	T	Stop gained	c.994C > T	p.Arg332Ter	P	DM	P
5	BMPR2	2	202532663	rs946132834	C	T	Stop gained	c.1207C > T	p.Gln403Ter	P	DM	P
6	BMPR2	2	202518992	NA	TGA	T	Frameshift variant	c.793_794delGA	–	LP	NA	NA
7	BMPR2	2	202377512	rs1085307151	G	A	Stop gained	c.38G > A	p.Trp13Ter	P	DM	P
8	BMPR2	2	202532715	rs1085307325	G	A	Missense variant	c.1259G > A	p.Cys420Tyr	LP	DM	P
9	BMPR2	2	202513718	NA	G	A	Splice acceptor variant	c.419-1G > A	–	P	NA	NA
10	BMPR2	2	202552773	rs137852746	C	T	Missense variant	c.1471C > T	p.Arg491Trp	LP	DM	P
11	BMPR2	2	202514389	NA	G*	–	SV (del)	g.202514389_202517603del	–	P	NA	NA
12	ATP13A3	3	194430969	NA	CT	C	Frameshift variant	c.2597_2598delinsG	p.Gln866ArgfsTer2	LP	NA	NA
13	AQP1	7	30922075	NA	G	T	Missense variant	c.394G > T	p.Gly132Cys	LP	NA	NA
13	TBX4	17	61467644	NA	AC	A	Frameshift variant	c.536_537delinsA	p.Phe181LeufsTer47	LP	NA	NA
14	TBX4	17	61482932	rs1603256040	C	T	Stop gained	c.1054C > T	p.Arg352Ter	P	NA	P

Pts: patients; ACMG 2015: The American College of Medical Genetics and Genomics guidelines

ISSN: 1465-993X