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_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)	ACVRL1	Likely pathogenic	12	52309967	52309967	G	C	criteria provided, single submitter	ClinGen:CA119410,UniProtKB:P37023#VAR_026806,OMIM:601284.0013
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
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.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
Duplication	NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs)	ACVRL1	Likely pathogenic	12	52314567	52314568	A	ATGCGGGAG	criteria provided, single submitter	ClinGen:CA16043812
single nucleotide variant	NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile)	ACVRL1	Likely pathogenic	12	52309240	52309240	A	T	criteria provided, single submitter	ClinGen:CA16614166
single nucleotide variant	NM_000020.3(ACVRL1):c.1049-1G>A	ACVRL1	Likely pathogenic	12	52309819	52309819	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614167
Deletion	NM_000020.3(ACVRL1):c.302del (p.Leu101fs)	ACVRL1	Likely pathogenic	12	52307123	52307123	CT	C	criteria provided, single submitter	ClinGen:CA16619568
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