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.625+2T>C	ACVRL1	Pathogenic	12	52307859	52307859	T	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51920691)_(51920903_?)del	ACVRL1	Pathogenic	12	52314475	52314687	na	na	criteria provided, single submitter	-