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.880C>T (p.Arg294Ter)	SMAD9	Pathogenic	13	37439797	37439797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211296,OMIM:603295.0003
single nucleotide variant	NM_002246.3(KCNK3):c.365T>C (p.Leu122Pro)	KCNK3	Likely pathogenic	2	26950616	26950616	T	C	criteria provided, single submitter	-