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.265T>C (p.Cys89Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52307086	52307086	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384898033
Deletion	NM_001204.7(BMPR2):c.1506del (p.Glu503fs)	BMPR2	Pathogenic	2	203417531	203417531	CT	C	criteria provided, single submitter	ClinGen:CA645509116
Duplication	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1	Pathogenic	12	52306920	52306921	C	CT	criteria provided, single submitter	ClinGen:CA658653654
single nucleotide variant	NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	ACVRL1	Pathogenic/Likely pathogenic	12	52308369	52308369	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900266
single nucleotide variant	NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	ACVRL1	Pathogenic	12	52309975	52309975	G	A	criteria provided, single submitter	ClinGen:CA384902923
Deletion	NC_000002.12:g.(?_202467499)_(202514999_?)del	BMPR2	Pathogenic	2	203332222	203379722	na	na	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.1148del (p.Met383fs)	BMPR2	Pathogenic	2	203397327	203397327	AT	A	criteria provided, single submitter	ClinGen:CA658655725
single nucleotide variant	NM_001204.7(BMPR2):c.621+1G>T	BMPR2	Likely pathogenic	2	203379703	203379703	G	T	criteria provided, single submitter	ClinGen:CA350339202
Deletion	NC_000012.11:g.(?_52306239)_(52314697_?)del	ACVRL1	Pathogenic	12	52306239	52314697	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.313+1G>T	ACVRL1	Pathogenic	12	52307135	52307135	G	T	criteria provided, single submitter	ClinGen:CA384898146