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
Duplication	NM_001204.7(BMPR2):c.1141dup (p.Arg381fs)	BMPR2	Pathogenic	2	203397319	203397320	C	CA	criteria provided, single submitter	ClinGen:CA645293822
single nucleotide variant	NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter)	BMPR2	Pathogenic	2	203397386	203397386	C	T	criteria provided, single submitter	ClinGen:CA64029555
single nucleotide variant	NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)	BMPR2	Likely pathogenic	2	203397420	203397420	G	A	criteria provided, single submitter	ClinGen:CA350341931
single nucleotide variant	NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr)	BMPR2	Pathogenic	2	203397438	203397438	G	A	criteria provided, single submitter	ClinGen:CA350341979
single nucleotide variant	NM_001204.7(BMPR2):c.1276+1G>A	BMPR2	Likely pathogenic	2	203397456	203397456	G	A	criteria provided, single submitter	ClinGen:CA2061325
single nucleotide variant	NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter)	BMPR2	Pathogenic	2	203407105	203407105	C	T	criteria provided, single submitter	ClinGen:CA64034679
single nucleotide variant	NM_001204.7(BMPR2):c.1414-2A>T	BMPR2	Pathogenic	2	203417437	203417437	A	T	criteria provided, single submitter	ClinGen:CA350344399
single nucleotide variant	NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter)	BMPR2	Pathogenic	2	203417476	203417476	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350344485
single nucleotide variant	NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr)	BMPR2	Likely pathogenic	2	203417512	203417512	G	A	criteria provided, single submitter	ClinGen:CA350344634
single nucleotide variant	NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter)	BMPR2	Pathogenic	2	203417550	203417550	G	T	criteria provided, single submitter	ClinGen:CA350344812