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_001204.7(BMPR2):c.1506del (p.Glu503fs)	BMPR2	Pathogenic	2	203417531	203417531	CT	C	criteria provided, single submitter	ClinGen:CA645509116
Duplication	NM_001204.7(BMPR2):c.1513dup (p.Met505fs)	BMPR2	Pathogenic	2	203417537	203417538	T	TA	criteria provided, single submitter	-
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
Deletion	NM_001204.7(BMPR2):c.1536del (p.Lys512fs)	BMPR2	Pathogenic	2	203417559	203417559	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter)	BMPR2	Pathogenic	2	203420138	203420138	C	T	criteria provided, single submitter	ClinGen:CA350346158
single nucleotide variant	NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter)	BMPR2	Pathogenic/Likely pathogenic	2	203420159	203420159	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2061449
single nucleotide variant	NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter)	BMPR2	Pathogenic	2	203420177	203420177	C	T	criteria provided, single submitter	ClinGen:CA10588330
Deletion	NM_001204.7(BMPR2):c.2216del (p.Pro739fs)	BMPR2	Pathogenic	2	203420603	203420603	GC	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001204.7(BMPR2):c.2580del (p.Asn861fs)	BMPR2	Pathogenic	2	203420967	203420967	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293960,OMIM:600799.0001
single nucleotide variant	NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter)	BMPR2	Pathogenic/Likely pathogenic	2	203421005	203421005	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278086,OMIM:600799.0012