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.1128+1G>C	BMPR2	Pathogenic	2	203395678	203395678	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602826
Deletion	NM_001204.6(BMPR2):c.77-?_418+?del	BMPR2	Pathogenic	2	203329532	203332412	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
single nucleotide variant	NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)	BMPR2	Pathogenic	2	203384918	203384918	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610660
single nucleotide variant	NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)	BMPR2	Pathogenic	2	203242235	203242235	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350396647
single nucleotide variant	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2	Pathogenic	2	203242245	203242245	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350396691
single nucleotide variant	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2	Pathogenic	2	203329655	203329655	A	G	criteria provided, single submitter	ClinGen:CA350399384
single nucleotide variant	NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)	BMPR2	Pathogenic	2	203329656	203329656	T	G	criteria provided, single submitter	ClinGen:CA350399387
single nucleotide variant	NM_001204.7(BMPR2):c.248-2A>G	BMPR2	Likely pathogenic	2	203332240	203332240	A	G	criteria provided, single submitter	ClinGen:CA350399499
Duplication	NM_001204.7(BMPR2):c.260dup (p.His87fs)	BMPR2	Pathogenic	2	203332253	203332254	C	CA	criteria provided, single submitter	ClinGen:CA645294006