肺動脈性肺高血圧症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Duplication	NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)	BMPR2	Pathogenic	2	203397319	203397320	C	CA	criteria provided, single submitter	ClinGen:CA645293822
single nucleotide variant	NM_001204.7(BMPR2):c.1129-3C>G	BMPR2	Pathogenic	2	203397305	203397305	C	G	criteria provided, single submitter	ClinGen:CA538975626
Deletion	NC_000002.12:g.(?_202513699)_(202530974_?)del	BMPR2	Pathogenic	2	203378422	203395697	na	na	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.1125_1128+16del	BMPR2	Pathogenic	2	203395674	203395693	GCGAGGTGAGTGTATACAAAA	G	criteria provided, single submitter	ClinGen:CA10581912
single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>C	BMPR2	Pathogenic	2	203395678	203395678	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602826
single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>A	BMPR2	Pathogenic	2	203395678	203395678	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322054
Deletion	NM_001204.7(BMPR2):c.1097del (p.Pro366fs)	BMPR2	Pathogenic	2	203395644	203395644	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293976
single nucleotide variant	NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg)	BMPR2	Pathogenic	2	203395588	203395588	T	C	criteria provided, single submitter	ClinGen:CA350341421
single nucleotide variant	NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter)	BMPR2	Pathogenic	2	203395543	203395543	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278095,OMIM:600799.0017
Duplication	NM_001204.7(BMPR2):c.969dup (p.His324fs)	BMPR2	Pathogenic	2	203395517	203395518	A	AT	criteria provided, single submitter	ClinGen:CA645293969