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.1127T>G (p.Met376Arg)	ACVRL1	Pathogenic	12	52309898	52309898	T	G	criteria provided, single submitter	ClinGen:CA254367,UniProtKB:P37023#VAR_006212,OMIM:601284.0002
single nucleotide variant	NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52310003	52310003	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119395,UniProtKB:P37023#VAR_006213,OMIM:601284.0001