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.269G>A (p.Cys90Tyr)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA320646
single nucleotide variant	NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe)	ACVRL1	Pathogenic/Likely pathogenic	12	52307090	52307090	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52307091	52307091	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000020.3(ACVRL1):c.271del (p.Asp91fs)	ACVRL1	Pathogenic	12	52307092	52307092	CG	C	criteria provided, single submitter	ClinGen:CA645509322
Deletion	NM_000020.3(ACVRL1):c.295_299del (p.Val99fs)	ACVRL1	Pathogenic	12	52307115	52307119	ACGTGT	A	criteria provided, single submitter	ClinGen:CA645294069
Deletion	NM_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
single nucleotide variant	NM_000020.3(ACVRL1):c.313+1G>T	ACVRL1	Pathogenic	12	52307135	52307135	G	T	criteria provided, single submitter	ClinGen:CA384898146
Deletion	NC_000012.12:g.(?_51913539)_(51919135_?)del	ACVRL1	Pathogenic	12	52307323	52312919	na	na	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs)	ACVRL1	Pathogenic/Likely pathogenic	12	52307433	52307436	CTGGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321394
single nucleotide variant	NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)	ACVRL1	Pathogenic	12	52307459	52307459	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA321605