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.1157G>A (p.Arg386His)	ACVRL1	Likely pathogenic	12	52309928	52309928	G	A	criteria provided, single submitter	ClinGen:CA211329
single nucleotide variant	NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)	ACVRL1	Likely pathogenic	12	52309967	52309967	G	C	criteria provided, single submitter	ClinGen:CA119410,UniProtKB:P37023#VAR_026806,OMIM:601284.0013