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	NM_001204.7(BMPR2):c.2216del (p.Pro739fs)	BMPR2	Pathogenic	2	203420603	203420603	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1	Pathogenic	12	52307011	52307011	C	T	criteria provided, single submitter	-
Duplication	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)	ACVRL1	Pathogenic	12	52307053	52307054	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp)	ACVRL1	Likely pathogenic	12	52307088	52307088	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52307091	52307091	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter)	ACVRL1	Pathogenic	12	52308248	52308248	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg)	ACVRL1	Pathogenic	12	52308252	52308252	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu)	ACVRL1	Pathogenic	12	52308282	52308282	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro)	ACVRL1	Likely pathogenic	12	52309261	52309261	T	C	criteria provided, single submitter	-