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.2695C>T (p.Arg899Ter)	BMPR2	Pathogenic	2	203421083	203421083	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278069,OMIM:600799.0002
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.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.2617C>T (p.Arg873Ter)	BMPR2	Pathogenic/Likely pathogenic	2	203421005	203421005	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278086,OMIM:600799.0012
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.994C>T (p.Arg332Ter)	BMPR2	Pathogenic	2	203395543	203395543	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278095,OMIM:600799.0017
single nucleotide variant	NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter)	BMPR2	Pathogenic	2	203383554	203383554	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA119933,OMIM:600799.0019
Duplication	NM_001204.7(BMPR2):c.186dup (p.Gly63fs)	BMPR2	Pathogenic	2	203329638	203329639	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322535
single nucleotide variant	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2	Pathogenic	2	203332289	203332289	T	C	criteria provided, single submitter	ClinGen:CA320754
single nucleotide variant	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2	Pathogenic/Likely pathogenic	2	203332371	203332371	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA323070