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
Deletion	NC_000002.12:g.(?_202513709)_(202520211_?)del	BMPR2	Pathogenic	2	203378432	203384934	na	na	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.961del (p.Arg321fs)	BMPR2	Pathogenic	2	203384918	203384918	AC	A	criteria provided, single submitter	ClinGen:CA645293984
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.901T>C (p.Ser301Pro)	BMPR2	Likely pathogenic	2	203384858	203384858	T	C	criteria provided, single submitter	ClinGen:CA10576586
single nucleotide variant	NM_001204.7(BMPR2):c.853-2A>G	BMPR2	Pathogenic	2	203384808	203384808	A	G	criteria provided, single submitter	ClinGen:CA324144
single nucleotide variant	NM_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)	BMPR2	Pathogenic	2	203383769	203383769	T	G	criteria provided, single submitter	ClinGen:CA324555
single nucleotide variant	NM_001204.7(BMPR2):c.712C>T (p.Gln238Ter)	BMPR2	Pathogenic	2	203383635	203383635	C	T	criteria provided, single submitter	-
Indel	NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs)	BMPR2	Pathogenic	2	203383613	203383614	AG	T	criteria provided, single submitter	ClinGen:CA645293812,OMIM:600799.0014
Deletion	NM_001204.7(BMPR2):c.689_690del (p.Lys230fs)	BMPR2	Pathogenic	2	203383610	203383611	TAA	T	criteria provided, single submitter	ClinGen:CA645293811
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