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
single nucleotide variant	NM_001204.7(BMPR2):c.1276+1G>A	BMPR2	Likely pathogenic	2	203397456	203397456	G	A	criteria provided, single submitter	ClinGen:CA2061325
Deletion	NM_001204.7(BMPR2):c.1342del (p.Asp448fs)	BMPR2	Pathogenic	2	203407098	203407098	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter)	BMPR2	Pathogenic	2	203407105	203407105	C	T	criteria provided, single submitter	ClinGen:CA64034679
single nucleotide variant	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2	Pathogenic	2	203407155	203407155	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610567
single nucleotide variant	NM_001204.7(BMPR2):c.1414-2A>T	BMPR2	Pathogenic	2	203417437	203417437	A	T	criteria provided, single submitter	ClinGen:CA350344399
single nucleotide variant	NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)	BMPR2	Pathogenic	2	203417476	203417476	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350344485
single nucleotide variant	NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr)	BMPR2	Likely pathogenic	2	203417484	203417484	G	T	criteria provided, single submitter	ClinGen:CA324334
single nucleotide variant	NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp)	BMPR2	Pathogenic	2	203417496	203417496	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278081,UniProtKB:Q13873#VAR_013681,OMIM:600799.0008
single nucleotide variant	NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln)	BMPR2	Pathogenic	2	203417497	203417497	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA278089,UniProtKB:Q13873#VAR_013680,OMIM:600799.0013
single nucleotide variant	NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr)	BMPR2	Likely pathogenic	2	203417512	203417512	G	A	criteria provided, single submitter	ClinGen:CA350344634