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
Indel	NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)	CAV1	Pathogenic	7	116199205	116199206	TT	A	criteria provided, single submitter	ClinGen:CA211312
single nucleotide variant	NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu)	ACVRL1	Pathogenic/Likely pathogenic	12	52306964	52306964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA270765,OMIM:601284.0005
single nucleotide variant	NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His)	ACVRL1	Likely pathogenic	12	52309928	52309928	G	A	criteria provided, single submitter	ClinGen:CA211329
Deletion	NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)	CAV1	Pathogenic	7	116199282	116199283	CTT	C	criteria provided, single submitter	ClinGen:CA204643,OMIM:601047.0006
Duplication	NM_001204.7(BMPR2):c.186dup (p.Gly63fs)	BMPR2	Pathogenic	2	203329638	203329639	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322535
single nucleotide variant	NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg)	BMPR2	Pathogenic	2	203332289	203332289	T	C	criteria provided, single submitter	ClinGen:CA320754
single nucleotide variant	NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser)	BMPR2	Pathogenic/Likely pathogenic	2	203332371	203332371	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA323070
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