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_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
Deletion	NM_000020.3(ACVRL1):c.916del (p.Ala306fs)	ACVRL1	Pathogenic	12	52309152	52309152	CG	C	criteria provided, single submitter	ClinGen:CA16619569
single nucleotide variant	NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter)	ACVRL1	Pathogenic/Likely pathogenic	12	52312858	52312858	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619571
single nucleotide variant	NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter)	BMPR2	Pathogenic	2	203242235	203242235	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350396647
single nucleotide variant	NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter)	BMPR2	Pathogenic	2	203242245	203242245	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA350396691
single nucleotide variant	NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys)	BMPR2	Pathogenic	2	203329655	203329655	A	G	criteria provided, single submitter	ClinGen:CA350399384
single nucleotide variant	NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter)	BMPR2	Pathogenic	2	203329656	203329656	T	G	criteria provided, single submitter	ClinGen:CA350399387
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
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.296G>A (p.Cys99Tyr)	BMPR2	Pathogenic	2	203332290	203332290	G	A	criteria provided, single submitter	ClinGen:CA350399616