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.1148del (p.Met383fs)	BMPR2	Pathogenic	2	203397327	203397327	AT	A	criteria provided, single submitter	ClinGen:CA658655725
Deletion	NC_000002.12:g.(?_202467499)_(202514999_?)del	BMPR2	Pathogenic	2	203332222	203379722	na	na	criteria provided, single submitter	-
Deletion	NM_001204.7(BMPR2):c.1506del (p.Glu503fs)	BMPR2	Pathogenic	2	203417531	203417531	CT	C	criteria provided, single submitter	ClinGen:CA645509116
single nucleotide variant	NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter)	BMPR2	Pathogenic	2	203421140	203421140	C	T	criteria provided, single submitter	ClinGen:CA350349629
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.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.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.1525G>T (p.Glu509Ter)	BMPR2	Pathogenic	2	203417550	203417550	G	T	criteria provided, single submitter	ClinGen:CA350344812
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.1451G>A (p.Trp484Ter)	BMPR2	Pathogenic	2	203417476	203417476	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350344485