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.1135G>A (p.Glu379Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309906	52309906	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902497
single nucleotide variant	NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu)	ACVRL1	Likely pathogenic	12	52312807	52312807	G	T	criteria provided, single submitter	ClinGen:CA384903827
single nucleotide variant	NM_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter)	ACVRL1	Pathogenic	12	52308236	52308236	T	G	criteria provided, single submitter	ClinGen:CA384899973
single nucleotide variant	NM_000020.3(ACVRL1):c.1048+2T>G	ACVRL1	Likely pathogenic	12	52309286	52309286	T	G	criteria provided, single submitter	ClinGen:CA384901886
Deletion	NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	ACVRL1	Pathogenic	12	52307092	52307092	CG	C	criteria provided, single submitter	ClinGen:CA645509322
single nucleotide variant	NM_000020.3(ACVRL1):c.626-3C>G	ACVRL1	Pathogenic	12	52308220	52308220	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509324
single nucleotide variant	NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309150	52309150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900954
single nucleotide variant	NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser)	ACVRL1	Likely pathogenic	12	52312792	52312792	C	T	criteria provided, single submitter	ClinGen:CA384903729
single nucleotide variant	NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu)	ACVRL1	Pathogenic/Likely pathogenic	12	52312877	52312877	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384904714
single nucleotide variant	NM_000020.3(ACVRL1):c.525+1G>A	ACVRL1	Pathogenic	12	52307555	52307555	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899370