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
Duplication	NM_000020.3(ACVRL1):c.237dup (p.Arg80fs)	ACVRL1	Pathogenic	12	52307053	52307054	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter)	ACVRL1	Pathogenic	12	52307011	52307011	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met)	ACVRL1	Pathogenic/Likely pathogenic	12	52312843	52312843	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.1144del (p.Asp382fs)	ACVRL1	Pathogenic	12	52309914	52309914	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile)	ACVRL1	Pathogenic/Likely pathogenic	12	52309886	52309886	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro)	ACVRL1	Pathogenic	12	52309149	52309149	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.870del (p.Arg291fs)	ACVRL1	Pathogenic	12	52309106	52309106	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52308274	52308274	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter)	ACVRL1	Pathogenic	12	52307085	52307085	C	G	criteria provided, single submitter	-
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