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.525+1del	ACVRL1	Pathogenic	12	52307551	52307551	TG	T	criteria provided, single submitter	ClinGen:CA16613748
single nucleotide variant	NM_000020.3(ACVRL1):c.1378-1G>A	ACVRL1	Pathogenic/Likely pathogenic	12	52314542	52314542	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613756
single nucleotide variant	NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter)	ACVRL1	Pathogenic	12	52309077	52309077	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613819
Duplication	NM_000020.3(ACVRL1):c.41dup (p.Met15fs)	ACVRL1	Pathogenic	12	52306298	52306299	C	CT	criteria provided, single submitter	ClinGen:CA16614035
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.889del (p.His297fs)	ACVRL1	Pathogenic	12	52309122	52309122	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614159
single nucleotide variant	NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)	ACVRL1	Likely pathogenic	12	52309240	52309240	A	T	criteria provided, single submitter	ClinGen:CA16614166
single nucleotide variant	NM_000020.3(ACVRL1):c.1049-1G>A	ACVRL1	Likely pathogenic	12	52309819	52309819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614167
single nucleotide variant	NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	ACVRL1	Pathogenic	12	52309892	52309892	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614168
single nucleotide variant	NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter)	ACVRL1	Pathogenic	12	52309988	52309988	G	A	criteria provided, single submitter	ClinGen:CA16614169