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
Duplication	NM_001204.7(BMPR2):c.969dup (p.His324fs)	BMPR2	Pathogenic	2	203395517	203395518	A	AT	criteria provided, single submitter	ClinGen:CA645293969
Deletion	NM_001204.7(BMPR2):c.961del (p.Arg321fs)	BMPR2	Pathogenic	2	203384918	203384918	AC	A	criteria provided, single submitter	ClinGen:CA645293984
Indel	NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs)	BMPR2	Pathogenic	2	203383613	203383614	AG	T	criteria provided, single submitter	ClinGen:CA645293812,OMIM:600799.0014
Deletion	NM_001204.7(BMPR2):c.689_690del (p.Lys230fs)	BMPR2	Pathogenic	2	203383610	203383611	TAA	T	criteria provided, single submitter	ClinGen:CA645293811
single nucleotide variant	NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter)	BMPR2	Pathogenic	2	203379622	203379622	C	T	criteria provided, single submitter	ClinGen:CA350338700
single nucleotide variant	NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr)	BMPR2	Likely pathogenic	2	203332347	203332347	G	A	criteria provided, single submitter	ClinGen:CA350399738
single nucleotide variant	NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr)	BMPR2	Pathogenic	2	203332344	203332344	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350399730
single nucleotide variant	NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr)	BMPR2	Pathogenic	2	203332290	203332290	G	A	criteria provided, single submitter	ClinGen:CA350399616
Duplication	NM_001204.7(BMPR2):c.260dup (p.His87fs)	BMPR2	Pathogenic	2	203332253	203332254	C	CA	criteria provided, single submitter	ClinGen:CA645294006
single nucleotide variant	NM_001204.7(BMPR2):c.248-2A>G	BMPR2	Likely pathogenic	2	203332240	203332240	A	G	criteria provided, single submitter	ClinGen:CA350399499