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
Deletion	NM_000020.3(ACVRL1):c.145del (p.Ala49fs)	ACVRL1	Pathogenic	12	52306961	52306961	CG	C	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797915
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
Duplication	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA319771
Deletion	NM_000020.3(ACVRL1):c.105del (p.Cys36fs)	ACVRL1	Pathogenic	12	52306926	52306926	CG	C	criteria provided, single submitter	ClinGen:CA658683789
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.58C>T (p.Gln20Ter)	ACVRL1	Pathogenic	12	52306316	52306316	C	T	criteria provided, single submitter	ClinGen:CA384896740
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_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
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