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.206G>T (p.Cys69Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307027	52307027	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897900
single nucleotide variant	NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)	ACVRL1	Pathogenic/Likely pathogenic	12	52309897	52309897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902445
single nucleotide variant	NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	ACVRL1	Pathogenic/Likely pathogenic	12	52308369	52308369	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900266
single nucleotide variant	NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg)	ACVRL1	Pathogenic/Likely pathogenic	12	52307086	52307086	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384898033
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.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.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.1055C>A (p.Ala352Asp)	ACVRL1	Pathogenic/Likely pathogenic	12	52309826	52309826	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384901981
single nucleotide variant	NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52309089	52309089	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384900562
single nucleotide variant	NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	ACVRL1	Pathogenic/Likely pathogenic	12	52307020	52307020	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384897887