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_002246.3(KCNK3):c.365T>C (p.Leu122Pro)	KCNK3	Likely pathogenic	2	26950616	26950616	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9	Pathogenic	13	37439797	37439797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211296,OMIM:603295.0003
single nucleotide variant	NM_001127217.3(SMAD9):c.781+2T>A	SMAD9	Likely pathogenic	13	37441408	37441408	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6950480
single nucleotide variant	NM_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000012.11:g.(?_52306239)_(52314697_?)del	ACVRL1	Pathogenic	12	52306239	52314697	na	na	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Pathogenic	12	52306249	52314687	na	na	criteria provided, single submitter	-
Duplication	NM_000020.3(ACVRL1):c.41dup (p.Met15fs)	ACVRL1	Pathogenic	12	52306298	52306299	C	CT	criteria provided, single submitter	ClinGen:CA16614035
single nucleotide variant	NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter)	ACVRL1	Pathogenic	12	52306316	52306316	C	T	criteria provided, single submitter	ClinGen:CA384896740
Deletion	NC_000012.12:g.(?_51913079)_(51913790_?)del	ACVRL1	Pathogenic	12	52306863	52307574	na	na	criteria provided, single submitter	-
Duplication	NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	ACVRL1	Pathogenic	12	52306920	52306921	C	CT	criteria provided, single submitter	ClinGen:CA658653654