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.200G>A (p.Arg67Gln)	ACVRL1	Pathogenic/Likely pathogenic	12	52307021	52307021	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA325011,UniProtKB:P37023#VAR_006206
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
single nucleotide variant	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1	Pathogenic	12	52307011	52307011	C	T	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.190del (p.Gln64fs)	ACVRL1	Pathogenic	12	52307007	52307007	AC	A	criteria provided, single submitter	ClinGen:CA16614036
Deletion	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1	Pathogenic	12	52307003	52307003	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613747
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
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.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.143G>A (p.Gly48Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52306964	52306964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270765,OMIM:601284.0005