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.1046T>C (p.Leu349Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52309282	52309282	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52309266	52309266	T	C	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.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.1321G>A (p.Val441Met)	ACVRL1	Pathogenic/Likely pathogenic	12	52312843	52312843	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)	ACVRL1	Pathogenic/Likely pathogenic	12	52309886	52309886	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52308274	52308274	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.526-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52307757	52307757	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001204.7(BMPR2):c.529+1G>A	BMPR2	Pathogenic/Likely pathogenic	2	203378553	203378553	G	A	criteria provided, multiple submitters, no conflicts	-