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.1771C>T (p.Arg591Ter)	BMPR2	Pathogenic/Likely pathogenic	2	203420159	203420159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2061449
single nucleotide variant	NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52312858	52312858	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619571
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52314542	52314542	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613756
single nucleotide variant	NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309990	52309990	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607366
single nucleotide variant	NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52306961	52306961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607361
single nucleotide variant	NM_000020.3(ACVRL1):c.986G>A (p.Arg329His)	ACVRL1	Pathogenic/Likely pathogenic	12	52309222	52309222	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321832
Deletion	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1	Pathogenic/Likely pathogenic	12	52307433	52307436	CTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321394
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320646
single nucleotide variant	NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
single nucleotide variant	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2	Pathogenic/Likely pathogenic	2	203332371	203332371	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA323070