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_001204.7(BMPR2):c.846T>G (p.Tyr282Ter)	BMPR2	Pathogenic	2	203383769	203383769	T	G	criteria provided, single submitter	ClinGen:CA324555
single nucleotide variant	NM_001204.7(BMPR2):c.853-2A>G	BMPR2	Pathogenic	2	203384808	203384808	A	G	criteria provided, single submitter	ClinGen:CA324144
single nucleotide variant	NM_001204.7(BMPR2):c.1128+1G>A	BMPR2	Pathogenic	2	203395678	203395678	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA322054
single nucleotide variant	NM_001204.7(BMPR2):c.1459G>T (p.Asp487Tyr)	BMPR2	Likely pathogenic	2	203417484	203417484	G	T	criteria provided, single submitter	ClinGen:CA324334
single nucleotide variant	NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter)	BMPR2	Pathogenic	2	203378462	203378462	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA351778
single nucleotide variant	NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg)	BMPR2	Likely pathogenic	2	203397455	203397455	G	C	criteria provided, single submitter	ClinGen:CA351929
single nucleotide variant	NM_001204.7(BMPR2):c.901T>C (p.Ser301Pro)	BMPR2	Likely pathogenic	2	203384858	203384858	T	C	criteria provided, single submitter	ClinGen:CA10576586
Deletion	NM_001204.7(BMPR2):c.1125_1128+16del	BMPR2	Pathogenic	2	203395674	203395693	GCGAGGTGAGTGTATACAAAA	G	criteria provided, single submitter	ClinGen:CA10581912
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
single nucleotide variant	NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter)	BMPR2	Pathogenic	2	203383560	203383560	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602824