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.1750C>T (p.Arg584Ter)	BMPR2	Pathogenic	2	203420138	203420138	C	T	criteria provided, single submitter	ClinGen:CA350346158
single nucleotide variant	NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)	BMPR2	Pathogenic/Likely pathogenic	2	203420159	203420159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2061449
Deletion	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2	Pathogenic	2	203420967	203420967	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293960,OMIM:600799.0001
single nucleotide variant	NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter)	BMPR2	Pathogenic	2	203421140	203421140	C	T	criteria provided, single submitter	ClinGen:CA350349629
single nucleotide variant	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52307020	52307020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897887
single nucleotide variant	NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)	ACVRL1	Pathogenic	12	52309054	52309054	T	C	criteria provided, single submitter	ClinGen:CA384900434
single nucleotide variant	NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309089	52309089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900562
single nucleotide variant	NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro)	ACVRL1	Likely pathogenic	12	52309090	52309090	T	C	criteria provided, single submitter	ClinGen:CA384900566
single nucleotide variant	NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg)	ACVRL1	Pathogenic	12	52309191	52309191	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901287
single nucleotide variant	NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309826	52309826	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901981