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.1129G>A (p.Ala377Thr)	ACVRL1	Pathogenic	12	52309900	52309900	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly)	ACVRL1	Likely pathogenic	12	52309991	52309991	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1246+1G>A	ACVRL1	Pathogenic	12	52310018	52310018	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.145del (p.Ala49fs)	ACVRL1	Pathogenic	12	52306961	52306961	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.1042del (p.Asp348fs)	ACVRL1	Pathogenic	12	52309278	52309278	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg)	ACVRL1	Pathogenic	12	52309284	52309284	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr)	ACVRL1	Pathogenic	12	52309176	52309176	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.526-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52307757	52307757	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)	ACVRL1	Pathogenic	12	52309992	52309992	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-216C>G	ACVRL1	Pathogenic	12	52314327	52314327	C	G	criteria provided, single submitter	OMIM:601284.0016