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_000020.3(ACVRL1):c.992T>C (p.Phe331Ser)	ACVRL1	Pathogenic	12	52309228	52309228	T	C	criteria provided, single submitter	ClinGen:CA384901479
single nucleotide variant	NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter)	ACVRL1	Pathogenic	12	52314578	52314578	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA384905493
single nucleotide variant	NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val)	ACVRL1	Pathogenic/Likely pathogenic	12	52309897	52309897	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA384902445
single nucleotide variant	NM_000020.3(ACVRL1):c.1246+2T>C	ACVRL1	Pathogenic	12	52310019	52310019	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA384903098
Deletion	NM_000020.3(ACVRL1):c.105del (p.Cys36fs)	ACVRL1	Pathogenic	12	52306926	52306926	CG	C	criteria provided, single submitter	ClinGen:CA658683789
Insertion	NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs)	ACVRL1	Pathogenic	12	52306960	52306961	C	CCG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797915
Deletion	NM_001204.6(BMPR2):c.(?_-63)_(76_?)+61del	BMPR2	Pathogenic	2	203242135	203242334	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)	ACVRL1	Pathogenic	12	52307468	52307468	C	T	criteria provided, single submitter	ClinGen:CA384898875
single nucleotide variant	NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter)	ACVRL1	Pathogenic	12	52307833	52307833	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA384899825
Duplication	NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs)	BMPR2	Pathogenic	2	203397319	203397320	C	CAG	criteria provided, single submitter	ClinGen:CA658796144

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