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_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)	BMPR2	Likely pathogenic	2	203332347	203332347	G	A	criteria provided, single submitter	ClinGen:CA350399738
single nucleotide variant	NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)	BMPR2	Likely pathogenic	2	203397420	203397420	G	A	criteria provided, single submitter	ClinGen:CA350341931
single nucleotide variant	NM_001204.7(BMPR2):c.1276+1G>A	BMPR2	Likely pathogenic	2	203397456	203397456	G	A	criteria provided, single submitter	ClinGen:CA2061325
single nucleotide variant	NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr)	BMPR2	Likely pathogenic	2	203417512	203417512	G	A	criteria provided, single submitter	ClinGen:CA350344634
single nucleotide variant	NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro)	ACVRL1	Likely pathogenic	12	52309090	52309090	T	C	criteria provided, single submitter	ClinGen:CA384900566
single nucleotide variant	NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro)	ACVRL1	Likely pathogenic	12	52309913	52309913	T	C	criteria provided, single submitter	ClinGen:CA384902555
single nucleotide variant	NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)	ACVRL1	Likely pathogenic	12	52309966	52309966	T	C	criteria provided, single submitter	ClinGen:CA384902882
single nucleotide variant	NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	A	criteria provided, single submitter	ClinGen:CA384903725
single nucleotide variant	NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)	ACVRL1	Likely pathogenic	12	52314625	52314625	A	C	criteria provided, single submitter	ClinGen:CA384905912
single nucleotide variant	NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu)	ACVRL1	Likely pathogenic	12	52312807	52312807	G	T	criteria provided, single submitter	ClinGen:CA384903827