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.354T>G (p.Cys118Trp)	BMPR2	Pathogenic	2	203332348	203332348	T	G	criteria provided, single submitter	ClinGen:CA278075,UniProtKB:Q13873#VAR_013672,OMIM:600799.0005
single nucleotide variant	NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter)	BMPR2	Pathogenic	2	203421083	203421083	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278069,OMIM:600799.0002