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.105del (p.Cys36fs)	ACVRL1	Pathogenic	12	52306926	52306926	CG	C	criteria provided, single submitter	ClinGen:CA658683789
Duplication	NM_000020.3(ACVRL1):c.145dup (p.Ala49fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA319771
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
Deletion	NM_000020.3(ACVRL1):c.145del (p.Ala49fs)	ACVRL1	Pathogenic	12	52306961	52306961	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52306964	52306964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270765,OMIM:601284.0005
single nucleotide variant	NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	ACVRL1	Likely pathogenic	12	52306969	52306969	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897700
single nucleotide variant	NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)	ACVRL1	Pathogenic	12	52306971	52306971	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254373,UniProtKB:P37023#VAR_006204,OMIM:601284.0004
single nucleotide variant	NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr)	ACVRL1	Pathogenic	12	52306973	52306973	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324720,UniProtKB:P37023#VAR_006205
Deletion	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1	Pathogenic	12	52307003	52307003	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613747