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_001127217.3(SMAD9):c.781+2T>A	SMAD9	Likely pathogenic	13	37441408	37441408	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6950480
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	-