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.1377+1G>A	ACVRL1	Pathogenic	12	52312900	52312900	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322270
single nucleotide variant	NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter)	ACVRL1	Pathogenic	12	52314580	52314580	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	ACVRL1	Pathogenic	12	52314616	52314616	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323134
single nucleotide variant	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2	Pathogenic	2	203378462	203378462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351778
single nucleotide variant	NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg)	BMPR2	Likely pathogenic	2	203397455	203397455	G	C	criteria provided, single submitter	ClinGen:CA351929
single nucleotide variant	NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro)	BMPR2	Likely pathogenic	2	203384858	203384858	T	C	criteria provided, single submitter	ClinGen:CA10576586
Deletion	NM_001204.7(BMPR2):c.1125_1128+16del	BMPR2	Pathogenic	2	203395674	203395693	GCGAGGTGAGTGTATACAAAA	G	criteria provided, single submitter	ClinGen:CA10581912
single nucleotide variant	NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter)	ACVRL1	Pathogenic	12	52309058	52309058	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6573002
single nucleotide variant	NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter)	BMPR2	Pathogenic	2	203420177	203420177	C	T	criteria provided, single submitter	ClinGen:CA10588330
single nucleotide variant	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2	Pathogenic	2	203383560	203383560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602824