肺動脈性肺高血圧症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_001127217.3(SMAD9):c.204C>A (p.Cys68Ter)	SMAD9	Pathogenic/Likely pathogenic	13	37453623	37453623	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001127217.3(SMAD9):c.781+2T>A	SMAD9	Likely pathogenic	13	37441408	37441408	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6950480
single nucleotide variant	NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter)	SMAD9	Pathogenic	13	37439797	37439797	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA211296,OMIM:603295.0003
Deletion	NC_000012.12:g.(?_51920691)_(51920903_?)del	ACVRL1	Pathogenic	12	52314475	52314687	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.625+2T>C	ACVRL1	Pathogenic	12	52307859	52307859	T	C	criteria provided, single submitter	-
Deletion	NC_000012.12:g.(?_51912465)_(51920903_?)del	ACVRL1	Pathogenic	12	52306249	52314687	na	na	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.1428del (p.Ser477fs)	ACVRL1	Pathogenic	12	52314590	52314590	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys)	ACVRL1	Pathogenic	12	52314581	52314581	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val)	ACVRL1	Likely pathogenic	12	52309961	52309961	A	T	criteria provided, single submitter	-
Indel	NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)	ACVRL1	Likely pathogenic	12	52309959	52309960	TG	AA	criteria provided, single submitter	-