肺動脈性肺高血圧症 - MGenReviews

肺動脈性肺高血圧症

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1128+1G>C	BMPR2	Pathogenic	2	203395678	203395678	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602826
single nucleotide variant	NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	ACVRL1	Pathogenic	12	52314600	52314600	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042853
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.140G>C (p.Arg47Pro)	ACVRL1	Pathogenic/Likely pathogenic	12	52306961	52306961	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607361
single nucleotide variant	NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys)	ACVRL1	Pathogenic/Likely pathogenic	12	52309990	52309990	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607366
Deletion	NM_001204.6(BMPR2):c.77-?_418+?del	BMPR2	Pathogenic	2	203329532	203332412	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter)	BMPR2	Pathogenic	2	203407155	203407155	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610567
single nucleotide variant	NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter)	BMPR2	Pathogenic	2	203384918	203384918	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610660
Deletion	NC_000012.12:g.(?_51920759)_(51923361_?)del	ACVRL1	Pathogenic	12	52314543	52317145	na	na	criteria provided, single submitter	-
Deletion	NM_000020.3(ACVRL1):c.183del (p.Arg61fs)	ACVRL1	Pathogenic	12	52307003	52307003	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613747

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