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_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro)	ACVRL1	Pathogenic	12	52310003	52310003	G	C	criteria provided, single submitter	ClinGen:CA119413,UniProtKB:P37023#VAR_026808,OMIM:601284.0015
single nucleotide variant	NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)	CAV1	Pathogenic	7	116166660	116166660	G	T	criteria provided, single submitter	ClinGen:CA277955,OMIM:601047.0001
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
single nucleotide variant	NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9	Pathogenic	13	37439797	37439797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211296,OMIM:603295.0003