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.1513dup (p.Met505fs)	BMPR2	Pathogenic	2	203417537	203417538	T	TA	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.1506del (p.Glu503fs)	BMPR2	Pathogenic	2	203417531	203417531	CT	C	criteria provided, single submitter	ClinGen:CA645509116
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
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.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.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.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.1414-2A>T	BMPR2	Pathogenic	2	203417437	203417437	A	T	criteria provided, single submitter	ClinGen:CA350344399
Deletion	NC_000002.12:g.(?_202513699)_(202542467_?)del	BMPR2	Pathogenic	2	203378422	203407190	na	na	criteria provided, single submitter	-
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